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Sample records for syndrome therapie cellulaire

  1. Therapy of autoinflammatory syndromes

    PubMed Central

    Hoffman, Hal M.

    2015-01-01

    The therapy of autoinflammatory syndromes is an excellent example of the power of translational research. Recent advances in our understanding of the molecular and immunologic basis of this newly identified classification of disease have allowed for the application of novel, effective, targeted treatments with life-changing effects on patients. Although colchicine and TNF-? inhibitors are important therapies for specific autoinflammatory syndromes, the novel IL-1targeted drugs are particularly effective for many of these diseases. Recently, the pharmaceutical industry has adopted a strategy of confirming the efficacy of new targeted drugs in often-ignored patients with orphan diseases, and US Food and Drug Administration policies have allowed for accelerated approval of these drugs, creating a win-win situation for patients and industry. This article reviews the general approach to the therapy of autoinflammatory diseases, focusing on current approved therapies and novel approaches that might be used in the future. PMID:20004774

  2. Electroconvulsive therapy and Klinefelter syndrome.

    PubMed

    Wei, Qiang; Xie, Xinhui; Chen, Yang; Tian, Yanghua; Wang, Honghao; Wang, Keyong; Wang, Kai

    2013-09-01

    Klinefelter syndrome is a common sex chromosome disorder characterized by the presence of 1 or more extra X chromosomes, and the most prevalent karyotype is 47,XXY. Epidemiological studies have showed that patients with Klinefelter syndrome had a significantly increased risk of psychosis. We presented a case of a patient with Klinefelter syndrome who was characterized by psychiatric symptoms. The patients had been refractory to clozapine and sodium valproate, but a remarkable improvement occurred after a cycle of 11 sessions of modified electroconvulsive therapy. PMID:23965608

  3. 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

  4. [Multidisciplinary therapy of Tourette syndrome].

    PubMed

    Bbel, B Tams; Nmeth, Attila; Gdoros, Jlia; Bihari, Katalin

    2003-02-01

    The marked fluctuation in symptoms with a spectrum of behavioral problems contribute to misdiagnosis of Tourette syndrome. The authors review the recent progress in diagnosis and management with an emphasis on multidisciplinary approach. Possible associations with various genes have been found in etiology of Tourette syndrome. Development of the disease comes of dopaminerg neurotransmission disorder resulting in cortico-striato-thalamic system dysfunction. Tics are brief movements or sounds that occur intermittently and unpredictably mimicking fragments of normal behavior. Diagnostic criteria are based on the motor and vocal phenomena and their dynamics. The key concept in management are the tic severity scaling correlating with quality of life measurements. Therapeutic interventions indicated at severe alteration in patient's quality of life. Treatment plan combines various drug protocols, psychotherapy and behavioral therapy which should be optimalized for most disabling symptom. Social isolation and self injurious behavior complicates the treatment resistant, severe cases. In these subgroup of patient, an adequate selection of stereotactic intervention could provide an effective control of tic severity or behavioral disorder. Tourette syndrome, as a typical neuropsychiatric disorder, is a striking example for improved efficacy of multidisciplinary approach. PMID:12647549

  5. 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,

  6. 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,…

  7. Complementary and alternative therapies for Down syndrome.

    PubMed

    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, and a host of other therapies such as massage therapy have been used. There is a lack of well-designed scientific studies on the use of alternative therapies in individuals with Down syndrome. Antioxidants hold theoretical promise for treatment of the cognitive, immune, malignancy, and premature aging problems associated with Down syndrome. Medications for treatment of Alzheimer's disease may also result in benefit for the population of individuals with Down syndrome. PMID:15977315

  8. Emerging Therapies in Antiphospholipid Syndrome.

    PubMed

    Andrade, Danieli; Tektonidou, Maria

    2016-04-01

    Antiphospholipid syndrome (APS) is a hypercoagulable state characterized by arterial and venous thromboses and pregnancy morbidity in the presence of antiphospholipid antibodies. Although warfarin remains the main therapeutic choice in APS, there is still concern about its efficacy, safety, and patient compliance. Patients with refractory APS to conventional therapy as well as patients with non-classical manifestations of APS may have alternative treatment approaches. APS pathogenesis has been further elucidated over the past years identifying new molecules as potential new treatment targets. This review summarizes available data from in vitro and animal models and clinical studies on the role of new potential treatment approaches including new oral anticoagulants and immunoregulatory agents: direct thrombin or factor Xa inhibitors, hydroxychloroquine, statins, B cell inhibition, complement inhibition, peptide therapy, nuclear factor κB and p38 mitogen-activated kinase inhibitors, defibrotide, abciximab, mTOR inhibitor, and other potential targets. Large multicenter prospective studies of well-characterized APS patients are needed to assess the efficacy and safety profile of these potential treatment alternatives. PMID:26995745

  9. Delayed Stress Response Syndrome: Family Therapy Indications

    ERIC Educational Resources Information Center

    Figley, Charles R.; Sprenkle, Douglas H.

    1978-01-01

    The delayed stress response syndrome is a form of chronic catastrophic stress disorder. The theoretical nature of the syndrome and its most characteristic symptoms are delineated within the context of treating Vietnam combat veterans. The paper outlines treatment implications within a family therapy program. (Author)

  10. 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,

  11. 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,…

  12. Immunobiologic therapies for myelodysplastic syndrome.

    PubMed

    Appelbaum, Frederick R

    2004-12-01

    Recent progress in understanding the pathobiology of the myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) have led to the development of various immunologically oriented therapies for these diseases. The existence of elevated levels of tumor necrosis factor-alpha (TNF-alpha) in bone marrow during early stages of MDS, and the possibility that TNF- proportional, variant suppresses normal hematopoiesis led to studies of attempts to block the activity of TNF-alpha. An anti-TNF monoclonal antibody and an antibody comprised of the soluble extracellular ligand-binding portion of the TNF receptor have both been evaluated recently in several small pilot studies. The recognition that marrow suppression in MDS may, in part, be a T-cell mediated autoimmune process has stimulated various trials of antithymocyte globulin and other similar agents. Gemtuzumab ozogamicin, an antibody against CD33 conjugated to the cytotoxic agent calicheamicin, is approved for use in AML and is currently being investigated as a potential therapeutic agent in MDS. Clinical trials were conducted as either monotherapy or in combination with cytokines such as IL-11 and chemotherapeutic agents including idarubicin, fludarabine, and/or cytarabine. Other antibodies are being developed as immunoconjugates with radioisotopes as part of conditioning regimens prior to bone marrow transplantation for AML or MDS. These include (131)I-anti-CD45 antibody (BC8), (131)I anti-CD33 antibody (p67), (213)Bi-M195 antibody, and (188)Re-labeled anti-CD66 antibody. The clearest example of successful immunotherapy for MDS (and AML) is the use of the graft-versus-tumor effect associated with allogeneic hematopoietic cell transplantation. Recently, nonmyeloablative transplants have been explored with encouraging results. Vaccines using overexposed self-antigens such as WT1 and PR1 are other attempts to induce a T-cell mediated response against MDS. PMID:15494301

  13. 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

  14. Anton syndrome during oxygen-ozone therapy.

    PubMed

    Avc?, Sema; Bykcam, Fatih; Demir, mer Faruk; zkan, Seda

    2015-06-01

    Ozone (O?) gas is a molecule that consists of 3 oxygen atoms, found out in the mid-19th century [1]. Ozone gas preserves humans from detrimental influences of ultraviolet radiation [1]. In spite of harmful effects of O? gas, investigators think that it has excessive curative effects [1]. Nowadays, O? therapy is used for many fields of medicine in precise therapeutic doses [1] and [2]. It is known that O? therapy is helpful in dental procedures, cerebrovascular diseases, tinnitus, acquired immunodeficiency syndrome, hypercholesterolemia, sensorial hypoacusis, senile dementia, multiple sclerosis, irradiation sensitive tumors, herpes simplex and herpes zoster virus infections, muscular hypertonia, and chronic otitis media, etc.[2]. The complications and disadvantages of O? therapy could be observed in the future. Herein, we presented a case of ischemic stroke after an oxygen-O? therapy, which is called also Anton syndrome. PMID:25511367

  15. Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus 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

    2015-02-01

    Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. PMID:25725225

  16. Benefit of corticosteroid therapy in Angelman syndrome.

    PubMed

    Forrest, Katharine M L; Young, Helen; Dale, Russell C; Gill, Deepak S

    2009-08-01

    Angelman syndrome is often associated with an intractable seizure disorder. We describe 4 children who demonstrated an excellent response to corticosteroid therapy. The benefits included not only reduction in clinical seizures but also modification of the "typical'' Angelman electroencephalogram. In addition, there was improvement in the myoclonic jerks, sleep pattern, and developmental progress. Corticosteroids appeared to have a broad benefit on the epileptic encephalopathy. We believe that these cases pose a challenge to the conventional management of intractable epilepsy in Angelman syndrome. PMID:19666884

  17. Acute Coronary Syndrome: Focus on Antiplatelet Therapy.

    PubMed

    Bobadilla, Rodel V

    2016-02-01

    The American Heart Association/American College of Cardiology in 2014 published a focused update of the 2007 and 2012 guidelines for non-ST-segment elevation acute coronary syndrome (NSTE-ACS). The management of ST-segment elevation myocardial infarction (STEMI) is described in a separate guideline published in 2013. The focused updates to the guidelines contain updated recommendations for dual antiplatelet therapy, including use of the P2Y12 inhibitor ticagrelor, which was recently approved by the Food and Drug Administration. Nurses caring for patients with acute coronary syndrome must have a good understanding of the current treatment guidelines for such patients, to help ensure delivery of evidence-based care. This review article uses a case study-based approach to describe how the new guidelines affect clinical decision making when choosing appropriate antiplatelet therapy for patients with NSTE-ACS or STEMI, depending on the patient's clinical history and presenting characteristics. PMID:26830177

  18. 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'…

  19. Role of epigenetic therapy in myelodysplastic syndrome

    PubMed Central

    Kadia, Tapan M; Garcia-Manero, Guillermo

    2013-01-01

    Myelodysplastic syndrome, characterized by ineffective hematopoiesis and cytopenias, remains a lethal disease. Until recently, patients with myelodysplastic syndrome have been managed supportively with blood product transfusions and growth factors, until they succumb to infections, bleeding complications or transformation to acute leukemia. The discovery that epigenetic factors play an important role in cancer, and specifically in myelodysplastic syndrome, has led to the recent approval of several new therapies that will make a significant impact on this disease. Epigenetics refers to a number of biochemical modifications to chromatin that do not alter the primary DNA sequence, but play an important role in genomic regulation at the level of gene transcription. Epigenetic factors can be passed on from a cell to its progeny and can mimic traditional genetic lesions that are implicated in cancer. Unlike genetic abnormalities, however, epigenetic changes, such as DNA methylation or histone deacetylation, can be manipulated pharmacologically. Recently developed hypomethylating agents and histone deacetylase inhibitors have shown significant biological and clinical activity in myelodysplastic syndrome. These drugs have been well-tolerated by patients and have been shown to alter the course of this disease. In order to use these drugs optimally, however, we need to better understand the role of these epigenetic changes: how they contribute to the disease process, how we can use them to better select patients and how we can use combinations to target them more effectively. PMID:21082921

  20. Novel biomarkers and therapies in cardiorenal syndrome.

    PubMed

    Latini, Roberto; Aleksova, Aneta; Masson, Serge

    2016-04-01

    Renal and cardiac diseases frequently co-exist and are associated with adverse outcomes. The clinical management of patients with a cardiorenal syndrome aims at reducing fluid overload and congestion, while improving kidney function. Early diagnosis and prompt therapies are key to better outcome. Biomarkers may help to gain insight on the ongoing pathological processes and since an accurate and early diagnosis of the cardiorenal syndrome based on clinical findings is not always possible. Serum creatinine, the derived eGFR and blood urea nitrogen are the standard tools for recognizing changes in renal function but suffer some limitations. In this review we will discuss the role of emerging biomarkers of renal tubular and glomerular injury, bone-mineral axis, or tubular cell-cycle arrest. PMID:26894469

  1. 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

  2. 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

  3. Glutamatergic modulatory therapy for Tourette syndrome.

    PubMed

    Singer, Harvey S; Morris, Christina; Grados, Marco

    2010-05-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by the presence of chronic, fluctuating motor and vocal (phonic) tics. The disorder is commonly associated with a variety of comorbidities including obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), school problems, anxiety, and depression. Therapeutically, if tics are causing psychosocial or physical problems, symptomatic medications are often prescribed, typically alpha-adrenergic agonists or dopamine antagonists. Recognizing that therapy is often ineffective and frequently associated with unacceptable side-effects, there is an ongoing effort to identify new tic-suppressing therapies. Several lines of evidence are presented that support the use of glutamate modulators in TS including glutamate's major role in cortico-striatal-thalamo-cortical circuits (CSTC), the recognized extensive interaction between glutamate and dopamine systems, results of familial genetic studies, and data from neurochemical analyses of postmortem brain samples. Since insufficient data is available to determine whether TS is definitively associated with a hyper- or hypo-glutamatergic state, potential treatment options using either glutamate antagonists or agonists are reviewed. Data from studies using these agents in the treatment of OCD are presented. If validated, modulation of the glutamate system could provide a valuable new pharmacological approach in the treatment of tics associated with Tourette syndrome. PMID:20022434

  4. [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

  5. 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

  6. 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

  7. Minimally invasive therapies for chronic pelvic pain syndrome.

    PubMed

    Wehbe, Salim A; Fariello, Jennifer Y; Whitmore, Kristene

    2010-07-01

    Chronic pelvic pain syndrome (CPPS) is a common problem among men and women worldwide. It is a symptoms-complex term for interstitial cystitis/painful bladder syndrome in women and chronic prostatitis/chronic pelvic pain syndrome in men. Patients often present with a combination of lower urinary tract symptoms with pelvic pain and sexual dysfunction. No gold standard exists for diagnosis or treatment of CPPS. The diagnosis is often challenging and is determined by elimination. Multiple treatment modalities exist, ranging from physical therapy to surgery. We discuss minimally invasive therapies for treatment of this complex of symptoms. Although data suggest reasonable efficacy of several medications, multimodal therapy remains the mainstay of treatment. We review the following minimally invasive therapeutic modalities: dietary modifications, physical therapy, mind-body therapies, medical therapy, intravesical therapies, trigger point injections, botulinum toxin injections to the pelvic floor, and neuromodulation. We report data supporting their use and efficacy and highlight the limitations of each. PMID:20449696

  8. Cognitive behaviour therapy in chronic fatigue syndrome.

    PubMed Central

    Butler, S; Chalder, T; Ron, M; Wessely, S

    1991-01-01

    Fifty patients fulfilling operational criteria for the chronic fatigue syndrome (CFS), and who had been ill for a mean of five years, were offered cognitive behaviour therapy in an open trial. Those fulfilling operational criteria for depressive illness were also offered tricyclic antidepressants. The rationale was that a distinction be drawn between factors that precipitate the illness and those that perpetuate it. Among the latter are cognitive factors such as the belief that physical symptoms always imply tissue damage, and behavioural factors such as persistent avoidance of activities associated with an increase in symptoms. Therapy led to substantial improvements in overall disability, fatigue, somatic and psychiatric symptoms. The principal problems encountered were a high refusal rate and difficulties in treating affective disorders. Outcome depended more on the strength of the initial attribution of symptoms to exclusively physical causes, and was not influenced by length of illness. These results suggest that current views on both treatment and prognosis in CFS are unnecessarily pessimistic. It is also suggested that advice currently offered to chronic patients, to avoid physical and mental activity, is counterproductive. PMID:2019842

  9. Upfront allogeneic stem cell transplantation after reduced-intensity/nonmyeloablative conditioning for patients with myelodysplastic syndrome: a study by the Société Française de Greffe de Moelle et de Thérapie Cellulaire.

    PubMed

    Damaj, Gandhi; Mohty, Mohammad; Robin, Marie; Michallet, Mauricette; Chevallier, Patrice; Beguin, Yves; Nguyen, Stephanie; Bories, Pierre; Blaise, Didier; Maillard, Natacha; Rubio, Marie Therese; Fegueux, Nathalie; Cornillon, Jerome; Clavert, Aline; Huynh, Anne; Adès, Lionel; Thiébaut-Bertrand, Anne; Hermine, Olivier; Vigouroux, Stephane; Fenaux, Pierre; Duhamel, Alain; Yakoub-Agha, Ibrahim

    2014-09-01

    Cytoreduction before allogeneic stem cell transplantation (allo-SCT) for patients with myelodysplastic syndromes remains a debatable issue. After excluding patients who had received preconditioning induction chemotherapy, we analyzed 128 consecutive patients with myelodysplastic syndrome who received reduced-intensity or nonmyeloablative conditioning (RIC/NMA) allo-SCT. Among them, 40 received azacitidine (AZA) before transplant (AZA group) and 88 were transplanted up front (best supportive care [BSC] group). At diagnosis, 55 patients had intermediate 2 or high-risk scores per the International Prognostic Scoring System and 33 had a high cytogenetic risk score. Progression to a more advanced disease before allo-SCT was recorded in 22 patients. Source of stem cells were blood (n = 112) or marrow (n = 16) from sibling (n = 78) or HLA-matched unrelated (n = 50) donors. With a median follow-up of 60 months, 3-year overall survival, relapse-free survival, cumulative incidence of relapse, and nonrelapse mortality were, respectively, 53% versus 53% (P = .69), 37% versus 42% (P = .78), 35% versus 36% (P = .99), and 20% versus 23% (P = .74), for the AZA group and BSC group, respectively. Multivariate analysis confirmed the absence of statistical differences in outcome between the AZA and BSC groups, after adjusting for potential confounders using the propensity score approach. The absence of cytoreduction before RIC/NMA allo-SCT did not seem to alter the outcome. However, our results emphasize the need to perform prospective protocols to delineate the role of debulking strategy and to identify subsets of patients who may benefit from this approach. PMID:24838178

  10. [Successful therapy of hepatorenal syndrome with norepinephrine].

    PubMed

    Pehl, C; Schepp, W

    2000-12-01

    A 39-year-old female with alcoholic cirrhosis was admitted with signs of an alcoholic hepatitis. Within one week a hepatorenal syndrome (HRS) (Creatinin 5.83 mg/100 ml, Harnstoff 235 mg/100 ml) evolved in the absence of additional causes. She had a diminished water (urine volume 31 ml/h) and sodium excretion (10 mmol/l). Urine flow was increased to 131 ml/h by plasma expansion with i.v. infusion of volume and albumin and with infusion of dopamine (3 micrograms/kg/min) and, as there was no diuretic pretreatment and thus, no HRS secondary to diuretic treatment, furosemide (500 mg/24 h). However, impairment of renal function remained unchanged with this therapy. Therefore, norepinephrine (NE) therapy was initiated. A dosage of 0.1-0.12 microgram/kg/min was necessary to achieve the desired increase in the mean arterial pressure of 10-20 mm Hg. During the NE infusion the urine volume increased further to 231 ml/h, the sodium excretion raised to 44 mmol/l, and serum levels of creatinine and urea decreased to 1.91 mg/100 ml and 141 mg/100 ml, respectively. With recovering liver function the NE infusions could be discontinued after 5 days without recurrence of a HRS until discharge after 3 weeks. Beside the vasopressin analogon ornipressin, the combination of norepinephrine and dopamine seems to be useful for the therapy of HRS. Norepinephrine has the advantage of an easy accessibility in ICUs and seems to exert less side effects. PMID:11194884

  11. Emerging pharmacologic therapies for irritable bowel syndrome.

    PubMed

    Manabe, Noriaki; Rao, Archana S; Wong, Banny S; Camilleri, Michael

    2010-10-01

    New therapies are being developed for irritable bowel syndrome (IBS). These advances are based on understanding pathophysiology or the development of medications with greater selectivity in classes of agents with known efficacy. Prucalopride, the newest European Medicines Agency-approved 5-hydroxytryptamine receptor 4 (5-HT(4)) agonist, is effective in the treatment of chronic constipation with improved cardiovascular safety relative to older 5-HT(4) drugs; similarly, ramosetron, the 5-hydroxytryptamine receptor 3 (5-HT(3)) antagonist, appears efficacious in diarrhea-predominant IBS. Secretagogues with different mechanisms of action target apical domains in enterocytes that are involved in chloride secretion, such as chloride channels, the cystic fibrosis transmembrane regulator, and guanylate cyclase C. As a class, such secretagogues have high efficacy and safety for constipation. With more data obtained from phase 2 and 3 trials, we expect other classes of medications, including bile acid modulators, anti-inflammatory agents, visceral analgesics, and newer centrally acting agents to be efficacious and enter the armamentarium for the treatment of IBS in the future. PMID:20694841

  12. Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni 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

    Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast to most cancers where these mutations are acquired, patients with hereditary cancer syndromes have inherited genomic aberrations. The understanding of the molecular pathobiology in hereditary cancer syndromes has advanced dramatically. In addition, many molecularly targeted therapies have been developed that could have potential roles in the treatment of patients with hereditary cancer syndromes. In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). We will also discuss other syndromes such as familial adenomatous polyposis and Li-Fraumeni syndrome (TP53). PMID:25549704

  13. Systemic therapy of Cushings syndrome

    PubMed Central

    2014-01-01

    Cushings disease (CD) in a stricter sense derives from pathologic adrenocorticotropic hormone (ACTH) secretion usually triggered by micro- or macroadenoma of the pituitary gland. It is, thus, a form of secondary hypercortisolism. In contrast, Cushings syndrome (CS) describes the complexity of clinical consequences triggered by excessive cortisol blood levels over extended periods of time irrespective of their origin. CS is a rare disease according to the European orphan regulation affecting not more than 5/10,000 persons in Europe. CD most commonly affects adults aged 2050 years with a marked female preponderance (1:5 ratio of male vs. female). Patient presentation and clinical symptoms substantially vary depending on duration and plasma levels of cortisol. In 80% of cases CS is ACTH-dependent and in 20% of cases it is ACTH-independent, respectively. Endogenous CS usually is a result of a pituitary tumor. Clinical manifestation of CS, apart from corticotropin-releasing hormone (CRH-), ACTH-, and cortisol-producing (malign and benign) tumors may also be by exogenous glucocorticoid intake. Diagnosis of hypercortisolism (irrespective of its origin) comprises the following: Complete blood count including serum electrolytes, blood sugar etc., urinary free cortisol (UFC) from 24h-urine sampling and circadian profile of plasma cortisol, plasma ACTH, dehydroepiandrosterone, testosterone itself, and urine steroid profile, Low-Dose-Dexamethasone-Test, High-Dose-Dexamethasone-Test, after endocrine diagnostic tests: magnetic resonance imaging (MRI), ultra-sound, computer tomography (CT) and other localization diagnostics. First-line therapy is trans-sphenoidal surgery (TSS) of the pituitary adenoma (in case of ACTH-producing tumors). In patients not amenable for surgery radiotherapy remains an option. Pharmacological therapy applies when these two options are not amenable or refused. In cases when pharmacological therapy becomes necessary, Pasireotide should be used in first-line in CD. CS patients are at an overall 4-fold higher mortality rate than age- and gender-matched subjects in the general population. The following article describes the most prominent substances used for clinical management of CS and gives a systematic overview of safety profiles, pharmacokinetic (PK)-parameters, and regulatory framework. PMID:25091295

  14. Allo-SCT for  Philadelphia-negative myeloproliferative neoplasms in blast phase: a study from the Societe Française de Greffe de Moelle et de Therapie Cellulaire (SFGM-TC).

    PubMed

    Cahu, X; Chevallier, P; Clavert, A; Suarez, F; Michallet, M; Vincent, L; Vigouroux, S; Blaise, D; Mariette, C; Bilger, K; Robin, M; Yakoub-Agha, I; Peffault de Latour, R; Mohty, M

    2014-06-01

    Progression of Philadelphia-negative myeloproliferative (MPN) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN) to acute myeloid leukemia (AML) is an adverse event in the course of the disease. Although allogeneic hematopoietic SCT (allo-SCT) is considered as the only curative therapy, few data exist on the outcome of patients with Philadelphia-negative MPN or MDS/MPN in blast phase who received an allo-SCT. Sixty patients were included in this retrospective study. AML was secondary to an MPN in 43 cases, whereas AML evolved from an MDS/MPN in 17 cases. Patients received allo-SCT in CR or advanced disease in 26 cases and 34 cases, respectively. With a median follow-up of 31 months (range, 25-44), OS and leukemia-free survival (LFS) were, respectively, 18% and 9% at 3 years. CR at transplant was associated with an improved LFS in univariate and multivariate analysis. The 3-year LFS was 18% for patients undergoing allo-SCT in CR versus 3% in advanced disease (P=0.008). Absence of thrombosis and an intermediate or favorable AML karyotype were associated with an improved outcome for patients who received allo-SCT in CR. New strategies are needed to improve the outcome of patients with MPN-MDS/MPN in blast phase. PMID:24614840

  15. Sick sinus syndrome as a complication of mediastinal radiation therapy

    SciTech Connect

    Pohjola-Sintonen, S.; Toetterman, K.J.K.; Kupari, M. )

    1990-06-01

    A 33-year-old man who had received mediastinal radiation therapy for Hodgkin's disease 12 years earlier developed a symptomatic sick sinus syndrome requiring the implantation of a permanent pacemaker. The sick sinus syndrome and a finding of an occult constrictive pericarditis were considered to be due to the previous mediastinal irradiation. A ventricular pacemaker was chosen because mediastinal radiotherapy also increases the risk of developing atrioventricular conduction defects.

  16. 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

  17. Bromocriptine augmentation therapy in a patient with Cotard's syndrome.

    PubMed

    Kondo, Shuko; Hayashi, Hiroshi; Eguchi, Takuya; Oyama, Takanobu; Wada, Tadashi; Otani, Koichi

    2003-06-01

    A 72-year-old female with bipolar I disorder developed Cotard's syndrome, i.e., various delusions of negation accompanied by severe depressive symptoms. She responded neither to the combination of antipsychotic drug and antidepressant nor to the lithium augmentation therapy. However, the delusions and depressive symptoms improved dramatically after the addition of bromocriptine 2.5-5 mg/day to the combination of clomipramine and lithium. This report suggests that bromocriptine augmentation therapy might be effective at least for some patients with Cotard's syndrome in mood disorders. PMID:12787862

  18. 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.

  19. Metabolic syndrome after hormone-modifying therapy: risks associated with antineoplastic therapy.

    PubMed

    Redig, Amanda J; Munshi, Hidayatullah G

    2010-08-01

    The incidence of metabolic syndrome is rapidly increasing. Metabolic syndrome is associated with elevated morbidity and mortality secondary to cardiovascular disease, insulin resistance, and hepatic dysfunction. A body of evidence has already implicated metabolic syndrome as a cancer risk factor; emerging evidence now suggests that cancer survivors themselves may be at risk for developing metabolic syndrome as a result of their anti-cancer therapy. Treatment of both breast cancer and prostate cancer often involves hormone-modifying agents that have been linked to features of metabolic syndrome. Androgen suppression in men with prostate cancer is associated with dyslipidemia, increasing risk of cardiovascular disease, and insulin resistance. Anti-estrogen therapy in women with breast cancer can affect lipid profiles, cardiovascular risk, and liver function. Similar findings have been noted in men with testicular cancer treated with chemotherapy. In addition, several emerging therapies, including mammalian target of rapamycin (mTOR) inhibitors and targeted kinase inhibitors, are increasingly associated with some features of metabolic syndrome. As the number of cancer survivors continues to grow, consideration of these factors and of the risk of metabolic syndrome will become increasingly important when choosing between therapy options and managing long-term follow-up. PMID:20923040

  20. Obesity Hypoventilation Syndrome: Weighing in on Therapy Options.

    PubMed

    Piper, Amanda

    2016-03-01

    Obesity hypoventilation syndrome is becoming an increasingly encountered condition both in respiratory outpatient clinics and in hospitalized patients. The health consequences and social disadvantages of obesity hypoventilation syndrome are significant. Unfortunately, the diagnosis and institution of appropriate therapy is commonly delayed when the syndrome is not recognized or misdiagnosed. Positive airway pressure therapy remains the mainstay of treatment and is effective in controlling sleep-disordered breathing and improving awake blood gases in the majority of individuals. Evidence supporting one mode of therapy over another is limited. Both continuous and bilevel therapy modes can successfully improve daytime gas exchange, with adherence to therapy an important modifiable factor in the response to treatment. Despite adherence to therapy, these individuals continue to experience excess mortality primarily due to cardiovascular events compared with those with eucapnic sleep apnea using CPAP. This difference likely arises from ongoing systemic inflammation secondary to the morbidly obese state. The need for a comprehensive approach to managing nutrition, weight, and physical activity in addition to reversal of sleep-disordered breathing is now widely recognized. Future studies need to evaluate the impact of a more aggressive and comprehensive treatment plan beyond managing sleep-disordered breathing. The impact of early identification and treatment of sleep-disordered breathing on the development and reversal of cardiometabolic dysfunction also requires further attention. PMID:26292036

  1. Dance Therapy with Physical Therapy for Children with Down Syndrome.

    ERIC Educational Resources Information Center

    Dupont, Blanche Burt; Schulmann, Diana

    This study sought to investigate effects of a dance program on bilateral toe-standing balance and single-point static balance skills of a group of children with Down Syndrome. Thirteen experimental and 10 control group students between the ages of 3 and 13 years were assessed on toe-standing balance and single-point standing balance on the right

  2. Asperger's syndrome: diagnosis, comorbidity and therapy.

    PubMed

    Tarazi, F I; Sahli, Z T; Pleskow, J; Mousa, S A

    2015-03-01

    Asperger's syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. This article reviews the clinical diagnosis of AS and discusses the comorbid disorders that may be present with AS, as well as the efficacy, safety, and tolerability of pharmacotherapies given to AS patients, as reported in preclinical and clinical studies. AS may be present with several comorbid disorders including: attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette's syndrome. The difficulty in distinguishing AS from autism results in treating the comorbid disorder symptoms, rather than treating the symptoms of AS. Accordingly, there is a great need to further understand the psychobiology of AS and its association with other disorders, which should expand the pharmacological and non-pharmacological therapeutic options and improve the quality of life for AS patients. PMID:25655905

  3. Complementary Therapy in Polycystic Ovary Syndrome

    PubMed Central

    Aquino, C. I.; Nori, S. L.

    2014-01-01

    Polycystic Ovary Syndrome (PCOS) is an endocrine disease. PCOS afflicts 5 to 10 % of women of reproductive age. The symptoms are: amenorrhea, oligomenorrhea, hirsutism, obesity, infertility, chronic hyperandrogenic anovulation and acne. Other risk factors aggravate this condition: insulin resistance, obesity, hypertension, dyslipidemia, inflammation and subclinical cardiovascular disease. Anxiety, depression and reduced quality of life are also common. This review highlights the mechanisms and the beneficial effects of acupuncture, exercise and resveratrol on animal models and on humans affected by PCOS. PMID:24809037

  4. 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

  5. Corticosteroids therapy and peptic ulcer disease in nephrotic syndrome patients

    PubMed Central

    Hsiang, Kuo-Wei; Ng, Yee-Yung; Lu, Ching-Liang; Chen, Tseng-Shing; Lin, Hsiao-Yi; Luo, Jiing-Chyuan; Wu, Jia-Min; Lin, Han-Chieh; Chang, Full-Young; Lee, Shou-Dong

    2010-01-01

    AIMS Whether corticosteroids induce peptic ulcer disease (PUD) remains uncertain. The study evaluated and compared the occurrence of PUD between nephrotic patients receiving oral prednisolone therapy and nephritic patients without steroid therapy. METHODS The prospective case control study compared 60 nephrotic syndrome patients who received 60 mg daily prednisolone therapy for 3 months with 30 age-and sex-matched nephritic patients without steroid therapy. Each patient underwent endoscopic examination and tissue and blood sampling before and after the study. Examined parameters included Helicobacter pylori (H. pylori) infection, and gastric and serum prostaglandin (PG) E2 and thromboxane (TX) B2 concentrations. The primary endpoint was the occurrence of endoscopic peptic ulcers between the two groups, while the secondary end point was the occurrence of ulcer complications. RESULTS The two groups were comparable in sex, age, smoking habits, alcohol drinking, past history of PUD, H. pylori infection rate and serum creatinine. There were no differences in the occurrence of endoscopic peptic ulcers (1.6% vs. 3.3%) and ulcer complications (0% vs. 0%), pre-therapy gastric PGE2, and pre- and post-therapy gastric TXB2, serum PGE2 and serum TXB2 between the two groups. However, there was significantly lower post-therapy gastric PGE2 concentrations in the prednisolone group. CONCLUSIONS Three-month therapy with 60 mg daily prednisolone caused few endoscopic ulcers (1.6%) and no ulcer complications in nephrotic patients. Corticosteroids therapy did not increase PUD in nephrotic syndrome patients [odds ratio 0.492 with 95% confidence interval (CI) 0.03, 8.142, P= 0.620]. Further larger studies are needed to clarify the role of corticosteroids in PUD.

  6. Pathogenesis of Hepatorenal Syndrome: Implications for Therapy.

    PubMed

    Durand, Franois; Graupera, Isabel; Gins, Pere; Olson, Jody C; Nadim, Mitra K

    2016-02-01

    Patients with cirrhosis are prone to develop acute kidney injury (AKI) due to a number of causes, including bacterial infections with or without septic shock, hypovolemia, administration of nephrotoxic drugs, and intrinsic kidney diseases, among others. Most importantly, patients with advanced cirrhosis develop a distinctive cause of AKI, characterized by rapidly progressive glomerular filtration rate loss associated with marked disturbances in circulatory function in the absence of obvious pathologic abnormalities in the kidneys, known as hepatorenal syndrome (HRS). Decreased kidney function results from intense renal vasoconstriction secondary to the complex circulatory changes of cirrhosis with splanchnic vasodilatation and effective hypovolemia. Beyond activation of vasoactive systems, factors including impaired renal blood flow autoregulation and systemic inflammation may play a role in the development of HRS. Most patients improve with albumin and vasopressors; however, the prognosis of HRS remains very poor. Novel biomarkers may be helpful in distinguishing HRS from other causes of AKI in patients with cirrhosis. PMID:26500178

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

    PubMed Central

    Kandemir, Melek; Kkkaya, Belgin; Tepe, Muzaffer Sava?; Yal?ner, Zehra Betl; Salepi, 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. PMID:26740904

  8. Dialysis disequilibrium syndrome occurring during continuous renal replacement therapy

    PubMed Central

    Tuchman, Shamir; Khademian, Zarir P.; Mistry, Kirtida

    2013-01-01

    The dialysis disequilibrium syndrome (DDS) is characterized by progressive neurological symptoms and signs attributable to cerebral edema that occurs due to fluid shifts into the brain following a relatively rapid decrease in serum osmolality during hemodialysis (HD). Since continuous renal replacement therapy (CRRT) is less efficient at solute clearance than intermittent HD, it seems logical that this mode of therapy is less likely to cause DDS. This entity has not been previously reported to occur with this modality. Here, we report two cases of DDS associated with CRRT that provide insights into its pathophysiological mechanisms and suggest strategies for its prevention. PMID:26120445

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

    DOEpatents

    Smith, Desmond J.; Rubin, Edward M.

    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.

  10. [Unidentified Inflammatory Disease Induced by Azacitidine Therapy for Myelodysplastic Syndrome].

    PubMed

    Inagaki, Shunichiro; Tamai, Yotaro; Yoshizawa, Masaki; Sato, Shuku; Kanbe, Emiko; Tanaka, Eri

    2015-11-01

    We report a 73-year-old woman with myelodysplastic syndromes (MDS) of the refractory anemia with excess of blasts-1 subtype, which was diagnosed in April 2014 on the basis of cytopenia for two cell types. After completing 3cycles of azacitidine (AZA) therapy, the patient was admitted to our hospital based on an initial presentation of high fever. During hospitalization, the high fever and increasing inflammatory reaction persisted. We reevaluated the effect of MDS in this patient and concluded that the AZA administration was successful and the MDS was extremely stable. On medical examination and inspection, the patient had an unidentified inflammatory disease. First, we treated her with high-dose steroid pulse therapy. However, the effect of the treatment was transient. Furthermore, the effects of cyclosporin A and oral steroid therapy were poor; therefore, we initiated tocilizumab administration. Nevertheless, she died of multiorgan failure. An increasing serum IL- 6 level induced by the AZA therapy was later confirmed. Recent studies have reported the immunomodulatory effects stimulated by AZA therapy in MDS. This case is a valuable reminder that an unidentified inflammatory disease can be induced in the course of AZA therapy for MDS. PMID:26602409

  11. 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

  12. 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 typeII 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

  13. Intravenous Therapies for Complex Regional Pain Syndrome: A Systematic Review.

    PubMed

    Xu, Jijun; Yang, Jing; Lin, Peirong; Rosenquist, Ellen; Cheng, Jianguo

    2016-03-01

    Complex regional pain syndrome (CRPS) remains a challenging clinical pain condition. Multidisciplinary approaches have been advocated for managing CRPS. Compared with spinal cord stimulation and intrathecal targeted therapy, IV treatments are less invasive and less costly. We aimed to systemically review the literature on IV therapies and determine the level of evidence to guide the management of CRPS. We searched PubMed, Embase, Scopus, and the Cochrane databases for articles published on IV therapies of CRPS up through February 2015. The search yielded 299 articles, of which 101 were deemed relevant by reading the titles and 63 by reading abstracts. All these 63 articles were retrieved for analysis and discussion. We evaluated the relevant studies and provided recommendations according to the level of evidence. We conclude that there is evidence to support the use of IV bisphosphonates, immunoglobulin, ketamine, or lidocaine as valuable interventions in selected patients with CRPS. However, high-quality studies are required to further evaluate the safety, efficacy, and cost-effectiveness of IV therapies for CRPS. PMID:26891396

  14. 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

  15. 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

  16. Compression Therapy in the Prevention of Postthrombotic Syndrome

    PubMed Central

    Tie, Hong-Tao; Luo, Ming-Zhu; Luo, Ming-Jing; Li, Ke; Li, Qiang; Wu, Qing-Chen

    2015-01-01

    Abstract Although compression therapy has been widely used after deep vein thrombosis (DVT), its efficacy in prevention of postthrombotic syndrome (PTS) remains disputable. We aimed to update the meta-analysis to comprehensively evaluate the effect of compression therapy on the prevention of PTS in adult patients after DVT. PubMed, Embase, and Cochrane library databases were systematically searched. Randomized controlled trials (RCTs) evaluating the preventive effect of compression therapy on PTS in adult patients after DVT were included. The primary outcome was the incidence of PTS. All meta-analyses were performed using random-effects models regardless of the heterogeneity. Subgroup and sensitivity analysis were also performed to examine the robustness of the pooled effects according to our predesigned plan. Potential publication bias was assessed. Eight RCTs with 1598 patients were included. Overall, compression therapy could significantly reduce the incidence of PTS (estimate 0.68, 95% confidence interval [CI] 0.520.90; P?=?0.007). However, it was only associated with a reduction in the incidence of mild/moderate PTS (relative risk [RR] 0.66, 95% CI 0.460.93; P?=?0.019) but not in the incidence of severe PTS (RR 0.64, 95% CI 0.271.50; P?=?0.31). Additionally, compression therapy failed to reduce the incidence of recurrent venous thromboembolism (RR 0.91, 95% CI 0.651.27; P?=?0.58), the incidence of ulceration (RR 0.74, 95% CI 0.361.53; P?=?0.42), or mortality (RR 0.99, 95% CI 0.721.37; P?=?0.96). No publication bias was observed. Current evidence still supports compression therapy to be a clinical practice for prophylaxis of PTS in adult patients after DVT. However, our findings should be cautiously interpreted because of heterogeneity and hence more large-scale and well-designed RCTs are still warranted. PMID:26252318

  17. Controversies on Rituximab Therapy in Sjgren Syndrome-Associated Lymphoproliferation

    PubMed Central

    Quartuccio, Luca; Fabris, Martina; Salvin, Sara; Maset, Marta; De Marchi, Ginevra; De Vita, Salvatore

    2009-01-01

    Sjgren's syndrome (SS) is a systemic autoimmune disease characterized by chronic inflammation of salivary and lachrymal glands, and frequently accompanied by systemic symptoms. A subgroup of SS patients develops malignant B cell non-Hodgkin's lymphoma (NHL), usually of the mucosa-associated lymphoid tissue (MALT) type and very often located in the major salivary glands. Currently, there is a lack of evidence-based intervention therapy which may influence SS-related chronic inflammation and lymphoproliferation. B cells are involved in the pathogenesis of SS, and B cell downregulation may lead to a decrease of disease activity. Rituximab (RTX), a chimeric monoclonal antibody targeting the CD20 antigen on the B cell surface, has been successfully investigated in other autoimmune diseases, such as rheumatoid arthritis, systemic lupus erythematosus, ANCA-associated vasculitis, and mixed cryoglobulinemic syndrome. Preliminary experiences of RTX therapy in SS patients with or without a lymphoproliferative disorder suggest that SS patients with more residual exocrine gland function might better benefit from RTX. Efficacy of RTX in SS-associated B-cell lymphoma, mainly in low-grade salivary gland lymphomas, remains an open issue. PMID:20148068

  18. 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 ZenicaDoboj 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 46.764,23. 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

  19. The effect of hand acupuncture therapy and hand moxibustion therapy on premenstrual syndrome among Korean women.

    PubMed

    Shin, Kyung Rim; Ha, Ju Young; Park, Hyo Jung; Heitkemper, Margaret

    2009-03-01

    Premenstrual syndrome (PMS) symptoms can reduce quality of life and impair daily functioning. This study examined the effects of Korean hand acupuncture therapy (HAT) and hand moxibustion therapy (HMT) on symptom severity in Korean women with PMS. This quasi-experimental pilot study based on the khi, yin, yang, and the five elements theory used a nonequivalent control group pretest-posttest design. Experimental groups received 10 sessions of either HAT or HMT treatment. Outcome measures included menstrual symptom severity as measured with the Menstrual Symptom Severity List and skin temperature change measured with Digital Infrared Thermographic Imaging. Both experimental groups had significantly reduced overall PMS symptom severity scores following therapy as compared to women in the control group. The HMT but not the HAT group showed improved flow of khi and balanced skin temperature in symmetric body areas. HAT and HMT may be effective strategies for women to reduce PMS symptoms. PMID:18829443

  20. Stem Cell Therapy for Interstitial Cystitis/Bladder Pain Syndrome.

    PubMed

    Kim, Aram; Shin, Dong-Myung; Choo, Myung-Soo

    2016-01-01

    Interstitial cystitis/bladder pain syndrome (IC/BPS) is a disease characterized by pelvic pain, usually with urinary frequency. These symptoms make patients suffer from a poor quality of life. However, there is still a lack of consensus on the pathophysiology and curable treatment of IC/BPS. We have reviewed several candidates for the pathophysiology of this disease and also treatments that have been used. Although several oral medications, bladder instillation therapies, fulguration for Hunner's lesion, and hydrodistention have been tried as IC/BPS treatments, their outcomes have not been satisfactory. As the application of stem cell therapy is expanding into the urologic field, innovative strategies have been tested with animal models of IC/BPS and have shown promising therapeutic effects for reversing the symptoms of this disorder. Although several concerns about stem cell sources and their safety should be addressed before initiating human clinical trials, we introduce stem cell therapy as a valuable future treatment approach for IC/BPS. PMID:26686192

  1. [Irritable bowel syndrome: diet and complementary medicine therapies?].

    PubMed

    Gerkens, A

    2012-09-01

    Irritable bowel syndrome (IBS) is a frequent and invalidating functional bowel disorder with entangled mechanisms. Its therapeutic approach is therefore complex. Classical therapies, prescribed alone or in combination in light of the predominant symptom, consist of antispasmodics, fibers, laxatives, antidiarrheals, and psychotropic agents. Other emerging pharmacological therapies, such as prokinetics, prosecretory or serotoninergic agents, bile acid modulators and antibiotics have been recently studied in clinical trials. Dietary measures can include reduction of short-chain poorly absorbed carbohydrates (FODMAPs) and gluten restriction. Assessment of food allergy can be proposed in a subgroup of IBS patients. Complementary and alternative medicine therapies, that are generally low cost and safe, appear to be appreciated by patients. Probiotics have demonstrated action on the gut microbiote modulation, and may be helpful in a subset of patients. Peppermint oil has an established visceral analgesic effect. Hypnotherapy represents an original, global and effective approach. Finally, education, reassurance and listening to the patient, leading to a solid therapeutic relationship, represents an essential backdrop of remedy or diet effectiveness. PMID:23091952

  2. Apixaban with antiplatelet therapy after acute coronary syndrome.

    TOXLINE Toxicology Bibliographic Information

    Alexander JH; Lopes RD; James S; Kilaru R; He Y; Mohan P; Bhatt DL; Goodman S; Verheugt FW; Flather M; Huber K; Liaw D; Husted SE; Lopez-Sendon J; De Caterina R; Jansky P; Darius H; Vinereanu D; Cornel JH; Cools F; Atar D; Leiva-Pons JL; Keltai M; Ogawa H; Pais P; Parkhomenko A; Ruzyllo W; Diaz R; White H; Ruda M; Geraldes M; Lawrence J; Harrington RA; Wallentin L; APPRAISE-2 Investigators

    2011-08-25

    BACKGROUND: Apixaban, an oral, direct factor Xa inhibitor, may reduce the risk of recurrent ischemic events when added to antiplatelet therapy after an acute coronary syndrome.METHODS: We conducted a randomized, double-blind, placebo-controlled clinical trial comparing apixaban, at a dose of 5 mg twice daily, with placebo, in addition to standard antiplatelet therapy, in patients with a recent acute coronary syndrome and at least two additional risk factors for recurrent ischemic events.RESULTS: The trial was terminated prematurely after recruitment of 7392 patients because of an increase in major bleeding events with apixaban in the absence of a counterbalancing reduction in recurrent ischemic events. With a median follow-up of 241 days, the primary outcome of cardiovascular death, myocardial infarction, or ischemic stroke occurred in 279 of the 3705 patients (7.5%) assigned to apixaban (13.2 events per 100 patient-years) and in 293 of the 3687 patients (7.9%) assigned to placebo (14.0 events per 100 patient-years) (hazard ratio with apixaban, 0.95; 95% confidence interval [CI], 0.80 to 1.11; P=0.51). The primary safety outcome of major bleeding according to the Thrombolysis in Myocardial Infarction (TIMI) definition occurred in 46 of the 3673 patients (1.3%) who received at least one dose of apixaban (2.4 events per 100 patient-years) and in 18 of the 3642 patients (0.5%) who received at least one dose of placebo (0.9 events per 100 patient-years) (hazard ratio with apixaban, 2.59; 95% CI, 1.50 to 4.46; P=0.001). A greater number of intracranial and fatal bleeding events occurred with apixaban than with placebo.CONCLUSIONS: The addition of apixaban, at a dose of 5 mg twice daily, to antiplatelet therapy in high-risk patients after an acute coronary syndrome increased the number of major bleeding events without a significant reduction in recurrent ischemic events. (Funded by Bristol-Myers Squibb and Pfizer; APPRAISE-2 ClinicalTrials.gov number, http://clinicaltrials.gov/ct2/show/NCT00831441 target=new>NCT00831441.).

  3. Toxic epidermal necrolysis associated with deflazacort therapy with nephrotic syndrome

    PubMed Central

    Lee, Eun Chae; Kim, Geun A; Koo, Ja Wook

    2014-01-01

    Toxic epidermal necrolysis (TEN) is a drug-related fatal disease. Extensive necrosis of the epidermis can lead to serious complications. This report describes two cases of TEN, associated with deflazacort (DFZ), in two boys, aged 4 years and 14 years, with nephrotic syndrome (NS). The 14-year-old male teenager received DFZ following NS relapse. After 17 days, pruritic papules appeared on the lower extremities. Another case involved a 4-year-old boy receiving DFZ and enalapril. After a 41-day DFZ treatment period, erythematous papules appeared on the palms and soles. Within 3 days, both boys developed widespread skin lesions (>50%) and were admitted to the intensive care unit for resuscitative and supportive treatment. The patients showed improvement after intravenous immunoglobulin-G therapy. Owing to the rapid, fatal course of TEN, clinicians need to be aware of the adverse effects of this drug when treating cases of NS.

  4. Interstitial cystitis/bladder pain syndrome and glycosaminoglycans replacement therapy

    PubMed Central

    2015-01-01

    Interstitial cystitis/bladder pain syndrome (IC/BPS) is a debilitating chronic disease characterized by discomfort or recurrent abdominal and pelvic pains in the absence of urinary tract infections. Its symptomatology includes discomfort, increased bladder pressure, sensitivity and intense pain in the bladder and pelvic areas, increased voiding frequency and urgency, or a combination of these symptoms. For these reasons, this pathology has a very negative impact on quality of life. The etiology of IC/BPS is still not well understood and different hypotheses have been formulated, including autoimmune processes, allergic reactions, chronic bacterial infections, exposure to toxins or dietary elements, and psychosomatic factors. The finding of an effective and specific therapy for IC/BPS remains a challenge for the scientific community because of the lack of a consensus regarding the causes and the inherent difficulties in the diagnosis. The last recent hypothesis is that IC/BPS could be pathophysiologically related to a disruption of the bladder mucosa surface layer with consequent loss of glycosaminoglycans (GAGs). This class of mucopolysaccharides has hydrorepellent properties and their alteration expose the urothelium to many urinary toxic agents. It has been hypothesized that when these substances penetrate the bladder wall a chain is triggered in the submucosa. In order to improve the integrity and function of the bladder lining, GAG layer replenishment therapy is widely accepted as therapy for patients with IC/BPS who have poor or inadequate response to conventional therapy. Currently, Chondroitin sulfate (CS), heparin, hyaluronic acid (HA), and pentosan polysulphate (PPS), and combinations of two GAGs (CS and HA) are the available substances with different effectiveness rates in patients with IC/BPS. There are four different commercially available products for GAG replenishment including CS, heparin, HA and PPS. Each product has different concentrations and dosage formulations. Recently, a combination of CS and HA is the latest commercially available product with promising results. PMID:26816865

  5. Interstitial cystitis/bladder pain syndrome and glycosaminoglycans replacement therapy.

    PubMed

    Cervigni, Mauro

    2015-12-01

    Interstitial cystitis/bladder pain syndrome (IC/BPS) is a debilitating chronic disease characterized by discomfort or recurrent abdominal and pelvic pains in the absence of urinary tract infections. Its symptomatology includes discomfort, increased bladder pressure, sensitivity and intense pain in the bladder and pelvic areas, increased voiding frequency and urgency, or a combination of these symptoms. For these reasons, this pathology has a very negative impact on quality of life. The etiology of IC/BPS is still not well understood and different hypotheses have been formulated, including autoimmune processes, allergic reactions, chronic bacterial infections, exposure to toxins or dietary elements, and psychosomatic factors. The finding of an effective and specific therapy for IC/BPS remains a challenge for the scientific community because of the lack of a consensus regarding the causes and the inherent difficulties in the diagnosis. The last recent hypothesis is that IC/BPS could be pathophysiologically related to a disruption of the bladder mucosa surface layer with consequent loss of glycosaminoglycans (GAGs). This class of mucopolysaccharides has hydrorepellent properties and their alteration expose the urothelium to many urinary toxic agents. It has been hypothesized that when these substances penetrate the bladder wall a chain is triggered in the submucosa. In order to improve the integrity and function of the bladder lining, GAG layer replenishment therapy is widely accepted as therapy for patients with IC/BPS who have poor or inadequate response to conventional therapy. Currently, Chondroitin sulfate (CS), heparin, hyaluronic acid (HA), and pentosan polysulphate (PPS), and combinations of two GAGs (CS and HA) are the available substances with different effectiveness rates in patients with IC/BPS. There are four different commercially available products for GAG replenishment including CS, heparin, HA and PPS. Each product has different concentrations and dosage formulations. Recently, a combination of CS and HA is the latest commercially available product with promising results. PMID:26816865

  6. Morquio A syndrome: diagnosis and current and future therapies.

    PubMed

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

    2014-09-01

    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

  7. 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; Montao, Adriana M.; Almciga-Daz, 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

  8. 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

  9. 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;…

  10. 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;

  11. Outcomes of Cord Blood Transplantation Using Reduced-Intensity Conditioning for Chronic Lymphocytic Leukemia: A Study on Behalf of Eurocord and Cord Blood Committee of Cellular Therapy and Immunobiology Working Party, Chronic Malignancies Working Party of the European Society for Blood and Marrow Transplantation, and the Societé Française de Greffe de Moelle et Therapie Cellulaire.

    PubMed

    Xavier, Erick; Cornillon, Jérôme; Ruggeri, Annalisa; Chevallier, Patrice; Cornelissen, Jan J; Andersen, Niels S; Maillard, Natacha; Nguyen, Stephanie; Blaise, Didier; Deconinck, Eric; Veelken, Hendrik; Milpied, Noel; Van Gelder, Michel; Peffault de Latour, Regis; Gluckman, Eliane; Kröger, Nicolaus; Schetelig, Johannes; Rocha, Vanderson

    2015-08-01

    Outcomes after umbilical cord blood transplantation (UCBT) for chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL) are unknown. We analyzed outcomes of 68 patients with poor-risk CLL/SLL who underwent reduced-intensity (RIC) UCBT from 2004 to 2012. The median age was 57 years and median follow-up 36 months; 17 patients had del 17p/p53mutation, 19 patients had fludarabine-refractory disease, 11 relapsed after autologous stem cell transplantation, 8 had diagnosis of prolymphocytic leukemia, 4 had Richter syndrome, and 8 underwent transplantation with progressive or refractory disease. The most common RIC used was cyclophosphamide, fludarabine, and total body irradiation (TBI) in 82%; 15 patients received antithymocyte globulin. Most of the cord blood grafts were HLA mismatched and 76% received a double UCBT. Median total nucleated cells collected was 4.7 × 10(7)/kg. The cumulative incidences (CI) of neutrophil and platelet engraftment were 84% and 72% at 60 and 180 days respectively; day 100 graft-versus-host disease (GVHD) (grade II to IV) was 43% and 3-year chronic GVHD was 32%. The CI of relapse, nonrelapse mortality, overall survival, and progression-free survival (PFS) at 3 years were 16%, 39%, 54%, and 45%, respectively. Fludarabine-sensitive disease at transplantation and use of low-dose TBI regimens were associated with acceptable PFS. In conclusion, use of RIC-UCBT seems to be feasible in patients with poor-risk CLL/SLL and improved outcomes were observed in patients with fludarabine-sensitive disease who received low-dose TBI regimens. PMID:25958294

  12. 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)

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

    PubMed

    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

  14. 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

  15. Targeted therapy for genetic cancer syndromes: Fanconi anemia, medullary thyroid cancer, tuberous sclerosis, and RASopathies.

    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

    2015-02-01

    With the advent of genomics-based treatment in recent years, the use of targeted therapies in the treatment of various malignancies has increased exponentially. Though much data is available regarding the efficacy of targeted therapies for common malignancies, genetic cancer syndromes remain a somewhat unexplored topic with comparatively less published literature. This review seeks to characterize targeted therapy options for the following genetic cancer syndromes: Fanconi anemia, inherited medullary thyroid cancer, tuberous sclerosis, and RASopathies. By understanding the pathophysiology of these conditions as well as available molecularly targeted therapies, oncologists, in collaboration with geneticists and genetic counsellors, can begin to develop effective clinical management options and therapy regimens for the patients with these genetic syndromes that they may encounter in their practice. PMID:25725224

  16. 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

  17. 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

  18. SMART syndrome (stroke-like migraine attacks after radiation therapy) in adult and pediatric patients.

    PubMed

    Armstrong, Amy E; Gillan, Eileen; DiMario, Francis Joseph

    2014-03-01

    SMART syndrome (stroke-like migraine attacks after radiation therapy) is a rare condition that involves complex migraines with focal neurologic findings in patients following cranial irradiation for central nervous system malignancies. Little is known about the mechanisms behind the disorder, making successful treatment challenging. We report 2 new cases of SMART syndrome in pediatric patients as well as review all documented cases of the syndrome. Each of our 2 pediatric patients suffered multiple episodes. Attacks were characterized by severe headache, visual disturbance, aphasia, and weakness. Recovery occurred over several days to weeks. The data from all documented reports of SMART syndrome indicate a greater prevalence for male gender. An age-dependent pattern of onset was also observed, with a greater variability of syndrome onset in patients who received cranial irradiation at a younger age. SMART appears to be a reversible, recurrent long-term complication of radiation therapy with possible age- and gender-related influences. PMID:23364656

  19. 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

  20. Changes in metabolic syndrome status after initiation of antiretroviral therapy

    PubMed Central

    Krishnan, S; Schouten, JT; Atkinson, B; Brown, TT; Wohl, D; McComsey, GA; Glesby, MJ; Shikuma, C; Haubrich, R; Jacobson, DL

    2014-01-01

    Background Data on changes in metabolic syndrome (MetS) status in HIV-infected adults on antiretroviral therapy (ART) are limited. Method MetS was assessed at ART initiation and every 48 weeks on ART in ART-nave HIV-infected individuals from the AIDS Clinical Trials Group Longitudinal Linked Randomized Trials (ALLRT) cohort. MetS, defined using the ATP-III criteria, required at least three of: elevated fasting glucose, hypertension, elevated waist circumference, elevated triglycerides, low HDL cholesterol. Prevalence of MetS and the individual criteria were compared between ART initiation and during follow-up using McNemars test. Results At ART initiation, 450 (20%) ALLRT participants had MetS. After 96 weeks of ART, 37% of the 411 with MetS at ART initiation and with available data at this time-point did not meet the MetS criteria. Among these participants, there was a dramatic decline in the proportion with low HDL (95% versus 26%, p<0.0001). Among the 63% that continued to meet MetS criteria at week 96, the proportion with ?4 criteria was higher at week 96 compared to ART initiation (48% versus 40%, p=0.03); at week 96, the proportion with high triglycerides was greater (87% versus 69%, p<0.0001) as was the proportion with high glucose (59% versus 42%, p<0.0001). Conclusion One in five ART-nave subjects met criteria for MetS at ART initiation. While more than half of these individuals continued to have MetS after 96 weeks of ART, 37% with MetS at ART initiation no longer met criteria for MetS; this decrease was driven largely by increases in HDL cholesterol. PMID:25321179

  1. 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,

  2. 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

  3. Massage Therapy Protocol for PostAnterior Cruciate Ligament Reconstruction Patellofemoral Pain Syndrome: A Case Report

    PubMed Central

    Zalta, Jennifer

    2008-01-01

    Background: The intent of the present study was to determine the effectiveness of massage therapy in the rehabilitation of postanterior cruciate ligament reconstruction patellofemoral pain syndrome. The primary complications following surgical repair of the anterior cruciate ligamentclassified as patellofemoral pain syndromeare hamstring flexion contracture and quadriceps weakness, leading to patellofemoral dysfunction and retropatellar pain. Methods: Treatment included lymphatic drainage, myofascial release, neuromuscular techniques including trigger point release, muscle energy techniques and cross-fiber friction. Orthopedic physical assessment tests were used to chart changes in patellofemoral function and changes in range of motion in the knee during the course of the massage interventions. Subjective reporting on pain level and function were also documented. Results: A decrease in pain level, hamstring flexion contracture and lateral tracking of the patella were documented. Conclusion: Massage therapy was determined to be an effective complementary therapy in the treatment of patellofemoral pain syndrome. PMID:21589717

  4. Bullous Sweet's syndrome after granulocyte colony-stimulating factor therapy in a child with congenital neutropenia.

    PubMed

    Akilov, Oleg E; Desai, Nisha; Jaffe, Ronald; Gehris, Robin P

    2014-01-01

    We present the case of a 20-month-old boy with congenital neutropenia for which he was being treated with granulocyte colony-stimulating factor (G-CSF) who developed bullous Sweet's syndrome. Because of the challenging and extensive differential diagnosis of an acute bullous eruption in an immunocompromised child, we highlight the importance of a prompt and precise diagnosis before initiation of any systemic therapy in children with Sweet's syndrome. PMID:24387761

  5. [Evidence-based therapy of polycystic ovarian syndrome].

    PubMed

    Gődény, Sándor; Csenteri, Orsolya Karola

    2015-11-01

    Polycystic ovary syndrome is recognized as the most common hormonal and metabolic disorder likely to affect women. The heterogeneous endocrinopathy is characterized by clinical and/or biochemical hyperandrogenism, oligo- or amenorrhoea, anovulatory infertility, and polycystic ovarian morphology. The syndrome is often associated with obesity, hyperinsulinemia and adversely affects endocrine, metabolic, and cardiovascular health. The symptoms and complaint of the patients vary with age. To maximise health gain of the syndrome, adequate, evidence based effective, efficient and safe treatment is necessary. This article summarises the highest available evidence provided by studies, meta-analysis and systematic reviews about the therapeutical possibilities for treating obesity, hyperandrogenism, menstrual abnormalities, infertility and psychological problems related to polycystic ovary syndrome. PMID:26551444

  6. Topiramate therapy of epilepsy associated with Angelman's syndrome.

    PubMed

    Franz, D N; Glauser, T A; Tudor, C; Williams, S

    2000-03-14

    Angelman's syndrome, a genetic disorder involving a defect in the DNA coding for subunits of the gamma-aminobutyric acid (GABA) type A receptor, often is associated with intractable epilepsy. Topiramate is a novel anticonvulsant that enhances GABAergic neurotransmission. Five children with Angelman's syndrome and epilepsy were treated with topiramate for clinical indications. The drug was effective and well tolerated, possibly because of its GABAergic properties. Further studies are necessary to confirm and elucidate this observation. PMID:10720296

  7. Abdominal Compartment Syndrome: Risk Factors, Diagnosis, and Current Therapy

    PubMed Central

    Luckianow, Gina M.; Ellis, Matthew; Governale, Deborah; Kaplan, Lewis J.

    2012-01-01

    Abdominal compartment syndrome's manifestations are difficult to definitively detect on physical examination alone. Therefore, objective criteria have been articulated that aid the bedside clinician in detecting intra-abdominal hypertension as well as the abdominal compartment syndrome to initiate prompt and potentially life-saving intervention. At-risk patient populations should be routinely monitored and tiered interventions should be undertaken as a team approach to management. PMID:22720147

  8. The Metabolic Syndrome and Mind-Body Therapies: A Systematic Review

    PubMed Central

    Anderson, Joel G.; Taylor, Ann Gill

    2011-01-01

    The metabolic syndrome, affecting a substantial and increasing percentage of the worldwide population, is comprised of a cluster of symptoms associated with increased risk of type 2 diabetes, cardiovascular disease, and other chronic conditions. Mind-body modalities based on Eastern philosophy, such as yoga, tai chi, qigong, and meditation, have become increasingly popular worldwide. These complementary therapies have many reported benefits for improving symptoms and physiological measures associated with the metabolic syndrome. However, clinical trial data concerning the effectiveness of these practices on the syndrome as a whole have not been evaluated using a systematic and synthesizing approach. A systematic review was conducted to critically evaluate the data from clinical trials examining the efficacy of mind-body therapies as supportive care modalities for management of the metabolic syndrome. Three clinical trials addressing the use of mind-body therapies for management of the metabolic syndrome were identified. Findings from the studies reviewed support the potential clinical effectiveness of mind-body practices in improving indices of the metabolic syndrome. PMID:21773016

  9. [Cushing syndrome: Physiopathology, etiology and principles of therapy].

    PubMed

    Chabre, Olivier

    2014-04-01

    The most frequent cause of Cushing's syndrome is iatrogenic, as Cushing's syndrome is the unavoidable consequence of long-term glucocorticoid treatment using more than 7.5mg prednisone per day. The most frequent cause of endogenous Cushing's syndrome is Cushing's disease (CD), which is an ACTH dependent hypercortisolism linked to a pituitary corticotroph adenoma. This adenoma is often very small, its diagnosis may require bilateral inferior petrosal sinus sampling and the first line treatment of CD is transsphenoidal surgery by an expert neurosurgeon. The second line treatments include drugs that can act either on the pituitary adenoma or on adrenal steroidogenesis, pituitary radiotherapy or bilateral adrenalectomy. Ectopic ACTH dependent Cushing's syndrome is linked either to poorly differentiated endocrine tumors with a very poor prognosis, such as small cell lung cancer, or to well differentiated endocrine tumors, such as bronchial carcinoid tumors, which have a good prognosis when treated by surgery, but may be very difficult to localize. Adrenal Cushing's syndromes, which are independent of pituitary ACTH secretion, include adrenal cortex carcinoma, which requires abdominal surgery with extended adrenalectomy by an expert surgeon, adrenal adenoma which is treated by laparoscopic unilateral adrenalectomy and bilateral macronodular hyperplasia, whose surgical treatment may require unilateral or bilateral adrenalectomy. Treatment of Cushing's syndrome generally leads to spectacular clinical results, which must not hide the fact that the reversibility of some signs is actually incomplete. This underlines the need for a timely multidisciplinary management of the patients by an expert team. PMID:24656295

  10. Plates-formes de microscopie et fluorescence par resonance de plasmons de surface appliquees a l'imagerie cellulaire

    NASA Astrophysics Data System (ADS)

    Chabot, Vincent

    L'elaboration de nouveaux medicaments repose sur les etudes pharmacologiques, dont le role est d'identifier de nouveaux composes actifs ou de nouvelles cibles pharmacologiques agissant entre autres au niveau cellulaire. Recemment, la detection basee sur la resonance des plasmons de surface (SPR) a ete appliquee a l'etude de reponses cellulaires. Cette methode de detection, permettant d'observer des variations d'indice de refraction associes a de faibles changements de masse a la surface d'un metal, a l'avantage de permettre l'etude d'une population de cellules vivantes en temps reel, sans necessiter l'introduction d'agents de marquage. Pour effectuer la detection au niveau de cellules individuelles, on peut employer la microscopie SPR, qui consiste a localiser spatialement la detection par un systeme d'imagerie. Cependant, la detection basee sur la SPR est une mesure sans marquage et les signaux mesures sont attribues a une reponse moyennee des differentes sources cellulaires. Afin de mieux comprendre et identifier les composantes cellulaires generant le signal mesure en SPR, il est pertinent de combiner la microscopie SPR avec une modalite complementaire, soit l'imagerie de fluorescence. C'est dans cette problematique que s'insere ce projet de these, consistant a concevoir deux plates-formes distinctes de microscopie SPR et de fluorescence optimisees pour l'etude cellulaire, de sorte a evaluer les possibilites d'integration de ces deux modalites en un seul systeme. Des substrats adaptes pour chaque plate-forme ont ete concus et realises. Ces substrats employaient une couche d'argent passivee par l'ajout d'une mince couche d'or. La stabilite et la biocompatibilite des substrats ont ete validees pour l'etude cellulaire. Deux configurations permettant d'ameliorer la sensibilite en sondant les cellules plus profondement ont ete evaluees, soit l'emploi de plasmons de surface a longue portee et de guides d'onde a gaine metallique. La sensibilite accrue de ces configurations a aussi ete demontree pour un usage en biodetection cellulaire. Une plate-forme permettant de mesurer la spectroscopie SPR simultanement avec l'acquisition d'images de fluorescence a ete realisee. Cette plate-forme a ensuite ete validee par l'etude de reponses cellulaires suite a une stimulation pharmacologique. Puis, un systeme base sur la microscopie SPR a ete concu et caracterise. Son emploi pour l'etude de reponses au niveau de cellules individuelles a ete demontre. Finalement, les forces et faiblesses des substrats et des plates-formes realisees au cours de la these ont ete evaluees. Des possibilites d'amelioration sont mises de l'avant et l'integration des modalites de microscopie SPR et de fluorescence suite aux travaux de la these est discutee. Les realisations au cours de cette etude ont donc permis d'identifier les composantes cellulaires impliquees dans la generation du signal mesure en biodetection SPR. Mots-cles : Resonance des plasmons de surface, microscopie SPR, plasmons de surface a longue portee LRSPR, guide d'onde a gaine metallique MCWG, fluorescence exaltee par plasmons de surface SPEF, biodetection cellulaire, imagerie SPR.

  11. Regulation therapy by Castillo-Morales in children with Down syndrome: primary and secondary orofacial pathology.

    PubMed

    Limbrock, G J; Hoyer, H; Scheying, H

    1990-01-01

    Since Castillo-Morales developed the Orofacial Regulation Therapy for children with Down syndrome in the mid 1970s, close observation of orofacial symptoms in the growing child has led to new findings. Primary orofacial signs are present at birth through age one; secondary alterations develop with untreated school-age children. A synopsis of the most important disorders in children with Down syndrome is given. Findings that relate to malfunction are summed up; these findings can be influenced by Orofacial Regulation Therapy. PMID:2147925

  12. Cotard's syndrome with schizophreniform disorder can be successfully treated with electroconvulsive therapy: case report

    PubMed Central

    Caliyurt, Okan; Vardar, Erdal; Tuglu, Cengiz

    2004-01-01

    We report a case of Cotard's syndrome associated with psychotic symptoms. A 27-year-old man was admitted to hospital with the diagnosis of schizophreniform disorder. His presenting symptoms, which had started 1 month before hospital admission, were somatic delusions of gastrointestinal and cardiovascular malfunction and the absence of a stomach, which resulted in a decrease in weight from 75 kg to 63 kg in 1 month. Cranial computed tomographic images showed dilatation of the lateral and third ventricles, whereas magnetic resonance imaging revealed central atrophy and lateral ventricle dilatation. Single- photon emission computed tomography demonstrated left temporal, left frontal and left parietal hypoperfusion. The patient did not respond to antipsychotic therapies, but he was successfully treated with electroconvulsive therapy. This report emphasizes that Cotard's syndrome may be accompanied by lesions of the left hemisphere and that electroconvulsive therapy could be the first-line therapy in such patients with psychotic disorder. PMID:15069468

  13. Cotard's syndrome with schizophreniform disorder can be successfully treated with electroconvulsive therapy: case report.

    PubMed

    Caliyurt, Okan; Vardar, Erdal; Tuglu, Cengiz

    2004-03-01

    We report a case of Cotard's syndrome associated with psychotic symptoms. A 27-year-old man was admitted to hospital with the diagnosis of schizophreniform disorder. His presenting symptoms, which had started 1 month before hospital admission, were somatic delusions of gastrointestinal and cardiovascular malfunction and the absence of a stomach, which resulted in a decrease in weight from 75 kg to 63 kg in 1 month. Cranial computed tomographic images showed dilatation of the lateral and third ventricles, whereas magnetic resonance imaging revealed central atrophy and lateral ventricle dilatation. Single- photon emission computed tomography demonstrated left temporal, left frontal and left parietal hypoperfusion. The patient did not respond to antipsychotic therapies, but he was successfully treated with electroconvulsive therapy. This report emphasizes that Cotard's syndrome may be accompanied by lesions of the left hemisphere and that electroconvulsive therapy could be the first-line therapy in such patients with psychotic disorder. PMID:15069468

  14. Iatrogenic Cushing's Syndrome After Topical Steroid Therapy for Psoriasis

    PubMed Central

    Sahıp, Birsen; Celık, Mehmet; Ayturk, Semra; Kucukarda, Ahmet; Mert, Onur; Dıncer, Nejla; Guldıken, Sıbel; Tugrul, Armagan

    2016-01-01

    Glucocorticoids are used for the treatment of many diseases, such as inflammatory, allergic, autoimmune, and neoplastic diseases. They can be used in the form of topical, oral, inhalable, rectal, and intra-articular agents. Many topical steroid-related iatrogenic Cushing's syndrome cases affecting especially children have been reported in the literature. Topical steroid-related Cushing's syndrome is rarely seen in adults. In this report, we present the case of a 32-year-old male patient with iatrogenic Cushing's syndrome related to long-term clobetasol propionate treatment for psoriasis. In the context of such treatment, the glucocorticoid withdrawal problem has to be overcome. At present there is no consensus on steroid withdrawal. Patients on long-term glucocorticoid treatment must be evaluated for potential adverse effects and withdrawal symptoms by their physician and their endocrinologist. PMID:26955131

  15. [Cotard's syndrome in depression and maintenance electroconvulsive therapy].

    PubMed

    Hagen, Susanne; Voss, Steen Harald

    2002-06-24

    We describe the case of a 65-year-old woman with long-standing, atypical facial pain and fluctuating mental symptoms. A variety of psychiatric diagnoses were made over a period of nine years but no effective treatment was found. Ultimately, the patient was found to suffer from a psychotic depression indicating Cotard's syndrome. Two series of ECT were then given with temporary short remissions. Subsequently, continuation ECT was introduced. To our knowledge, continuation ECT in Cotard's syndrome is rarely, if ever, described in the literature. PMID:12119758

  16. 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

  17. 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…

  18. Electropalatographic Therapy for Children and Young People with Down's Syndrome

    ERIC Educational Resources Information Center

    Cleland, Joanne; Timmins, Claire; Wood, Sara E.; Hardcastle, William J.; Wishart, Jennifer G.

    2009-01-01

    Articulation disorders in Down's syndrome (DS) are prevalent and often intractable. Individuals with DS generally prefer visual to auditory methods of learning and may therefore find it beneficial to be given a visual model during speech intervention, such as that provided by electropalatography (EPG). In this study, participants with Down's

  19. 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…

  20. 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…

  1. 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,

  2. 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

  3. 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

  4. Primary therapy for small cell lung cancer reversing the Eaton-Lambert syndrome

    SciTech Connect

    Kalter, S.; Dhingra, H.M.; Farha, P.

    1985-02-01

    A case report is presented of a patient with small cell carcinoma of the lung associated with the classic Eaton-Lambert syndrome. He received intermittent anticholinesterase therapy, with minimal improvement. Combined radiotherapy and chemotherapy for the primary neoplasm produced considerable improvement, with normal EMG findings after complete remission was achieved. 7 references, 1 table.

  5. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

    SciTech Connect

    Gahl, W.A.; Bernardini, I.; Dalakas, M.; Rizzo, W.B.; Harper, G.S.; Hoeg, J.M.; Hurko, O.; Bernar, J.

    1988-02-01

    11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced after 7-20 mo of carnitine therapy. Muscle lipid accumulation, which varied directly with duration of carnitine deficiency (r = 0.73), improved significantly in three of seven rebiopsied patients after carnitine therapy. One Lowe's syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-(/sup 3/H)carnitine normally. The half-life of plasma carnitine for cystinotic children given a single oral dose approximated 6.3 h; 14% of ingested L-carnitine was excreted within 24 h. Studies in a uremic patient with cystinosis showed that her plasma carnitine was in equilibrium with some larger compartment and may have been maintained by release of carnitine from the muscle during dialysis. Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined.

  6. 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

  7. Menopause, the metabolic syndrome, and mind-body therapies

    PubMed Central

    Innes, Kim E.; Selfe, Terry Kit; Taylor, Ann Gill

    2009-01-01

    Cardiovascular disease risk rises sharply with menopause, likely due to the coincident increase in insulin resistance and related atherogenic changes that together comprise the metabolic or insulin resistance syndrome, a cluster of metabolic and hemodynamic abnormalities strongly implicated in the pathogenesis and progression of cardiovascular disease. A growing body of research suggests that traditional mind-body practices such as yoga, tai chi, and qigong may offer safe and cost-effective strategies for reducing insulin resistance syndrome-related risk factors for cardiovascular disease in older populations, including postmenopausal women. Current evidence suggests that these practices may reduce insulin resistance and related physiological risk factors for cardiovascular disease; improve mood, well-being, and sleep; decrease sympathetic activation; and enhance cardiovagal function. However, additional rigorous studies are needed to confirm existing findings and to examine long-term effects on cardiovascular health. PMID:18779682

  8. [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

  9. 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

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

    PubMed

    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

  11. A practical guide to the therapy of narcolepsy and hypersomnia syndromes.

    PubMed

    Mignot, Emmanuel J M

    2012-10-01

    Narcolepsy and other syndromes associated with excessive daytime sleepiness can be challenging to treat. New classifications now distinguish narcolepsy/hypocretin deficiency (also called type 1 narcolepsy), a lifelong disorder with well-established diagnostic procedures and etiology, from other syndromes with hypersomnolence of unknown causes. Klein-Levin Syndrome, a periodic hypersomnia associated with cognitive and behavioral abnormalities, is also considered a separate entity with separate therapeutic protocols. Non hypocretin-related hypersomnia syndromes are diagnoses of exclusion. These diagnoses are only made after eliminating sleep deprivation, sleep apnea, disturbed nocturnal sleep, and psychiatric comorbidities as the primary cause of daytime sleepiness. The treatment of narcolepsy/hypocretin deficiency is well-codified, and involves pharmacotherapies using sodium oxybate, stimulants, and/or antidepressants, plus behavioral modifications. These therapies are almost always needed, and the risk-to-benefit ratio is clear, notably in children. Detailed knowledge of the pharmacological profile of each compound is needed to optimize use. Treatment for other syndromes with hypersomnolence is more challenging and less codified. Preferably, therapy should be conservative (such as modafinil, atomoxetine, behavioral modifications), but it may have to be more aggressive (high-dose stimulants, sodium oxybate, etc.) on a case-by-case, empirical trial basis. As cause and evolution are unknown in these conditions, it is important to challenge diagnosis and therapy over time, keeping in mind the possibility of tolerance and the development of stimulant addiction. Kleine-Levin Syndrome is usually best left untreated, although lithium can be considered in severe cases with frequent episodes. Guidelines are provided based on the literature and personal experience of the author. PMID:23065655

  12. FRAGILE X SYNDROME: PSYCHIATRIC MANIFESTATIONS, ASSESSMENT AND EMERGING THERAPIES

    PubMed Central

    Wadell, Paula M.; Hagerman, Randi J.; Hessl, David R.

    2015-01-01

    Fragile X Syndrome (FXS), the most common inherited cause of intellectual disabilities, is an X-linked dominant disorder caused by the amplification of a CGG repeat in the 5? untranslated region of the fragile X mental retardation gene 1 (FMR1). Prevalence estimates of the disorder are approximately 1/3600. Psychiatric manifestations of the disorder include anxiety, attention deficit hyperactivity disorder, autism, mood instability and aggression. In this article we review the above psychiatric manifestations and challenges to accurate assessment. We also discuss how the neurobiological underpinnings of these symptoms are beginning to be understood and can help guide treatment. PMID:25632275

  13. Fragile X syndrome neurobiology translates into rational therapy.

    PubMed

    Braat, Sien; Kooy, R Frank

    2014-04-01

    Causal genetic defects have been identified for various neurodevelopmental disorders. A key example in this respect is fragile X syndrome, one of the most frequent genetic causes of intellectual disability and autism. Since the discovery of the causal gene, insights into the underlying pathophysiological mechanisms have increased exponentially. Over the past years, defects were discovered in pathways that are potentially amendable by pharmacological treatment. These findings have inspired the initiation of clinical trials in patients. The targeted pathways converge in part with those of related neurodevelopmental disorders raising hopes that the treatments developed for this specific disorder might be more broadly applicable. PMID:24508819

  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. Straight Back Syndrome: positive response to spinal manipulation and adjunctive therapy – A case report

    PubMed Central

    Gold, Paul M.; Albright, Brianna; Anani, Sabine; Toner, Heather

    2013-01-01

    Straight Back Syndrome (SBS) has been recognized for over 50 years. Not to be confused with flat back syndrome in the lumbar spine, SBS patients present with an obvious loss of the thoracic kyphosis accompanied by apparent heart symptoms. The main purpose of this article is to describe a patient diagnosed with SBS, whose symptoms were successfully managed using spinal manipulative therapy as well as ancillary modalities. The use of diagnostic and laboratory tests are essential to differentially diagnose cardiac disease from SBS. Genesis and incidence of this condition is also discussed as well as roentgenometric analysis. A suggested diagnostic algorithm is presented as well. PMID:23754859

  16. A Case of Klippel-Trenaunay Syndrome with Acute Submassive Pulmonary Thromboembolism Treated with Thrombolytic Therapy

    PubMed Central

    Chu, Seong-Taek; Han, Yung-Hee; Koh, Jung-A; Kim, Seon-Jae; Lee, Hak-Cheol; Kim, Si-Eun; Shin, Yong-Chul; Choi, Seung Min; Joo, Shin Bae

    2015-01-01

    Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous hemangiomas, soft tissue and bony hypertrophy of limb. Potential complications such as deep venous thrombosis and pulmonary thromboembolism have not been reported in Korea to date. We demonstrate the case of a 48-year-old woman with Klippel-Trenaunay syndrome with extensive varicose veins on right lower limb, hypertrophy of left big toe and basilar artery tip aneurysm, complicated with acute submassive pulmonary thromboembolism treated successfully with intravenous thrombolytic therapy. PMID:26755937

  17. New insights into Brunner syndrome and potential for targeted therapy.

    PubMed

    Palmer, E E; Leffler, M; Rogers, C; Shaw, M; Carroll, R; Earl, J; Cheung, N W; Champion, B; Hu, H; Haas, S A; Kalscheuer, V M; Gecz, J; Field, M

    2016-01-01

    We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males had mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted and placid during clinical interview. The family disclosed episodic explosive aggression after a diagnosis was made. The second family had a missense variant in MAOA (p.R45W). Affected males had borderline-mild ID, attention deficit disorder and limited friendships. One had a history of explosive aggression in childhood and episodic symptoms of flushing, headaches and diarrhoea. Their carrier mother had normal intelligence but similar episodic symptoms. Characteristic biochemical abnormalities included high serum serotonin and urinary metanephrines and low urinary 5-hydroxyindoleacetic acid (5-HIAA) and vanillylmandelic acid (VMA). Symptomatic individuals in the second family had particularly high serotonin levels, and treatment with a serotonin reuptake inhibitor and dietary modification resulted in reversal of biochemical abnormalities, reduction of 'serotonergic' symptoms and behavioural improvement. Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms. It can be screened for with serum/urine metanephrine and serotonin measurement. Cautious treatment with a serotonin reuptake inhibitor, dietary modifications and avoidance of medications contraindicated in patients on monoamine oxidase inhibitors can improve symptoms. PMID:25807999

  18. 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

  19. Therapies in Aicardi-Goutières syndrome.

    PubMed

    Crow, Y J; Vanderver, A; Orcesi, S; Kuijpers, T W; Rice, G I

    2014-01-01

    Aicardi-Goutières syndrome (AGS) is a genetically determined disorder, affecting most particularly the brain and the skin, characterized by the inappropriate induction of a type I interferon-mediated immune response. In most, but not all, cases the condition is severe, with a high associated morbidity and mortality. A number of important recent advances have helped to elucidate the biology of the AGS-related proteins, thus providing considerable insight into disease pathology. In this study, we outline the clinical phenotype of AGS, paying particular attention to factors relevant to therapeutic intervention. We then discuss the pathogenesis of AGS from a molecular and cell biology perspective. Finally, we suggest possible treatment strategies in light of these emerging insights. PMID:23607857

  20. 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

  1. Down Syndrome: From Understanding the Neurobiology to Therapy

    PubMed Central

    Gardiner, Katheleen; Herault, Yann; Lott, Ira T.; Antonarakis, Stylianos E.; Reeves, Roger H.

    2010-01-01

    Down syndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior. PMID:21068296

  2. Down syndrome: from understanding the neurobiology to therapy.

    PubMed

    Gardiner, Katheleen; Herault, Yann; Lott, Ira T; Antonarakis, Stylianos E; Reeves, Roger H; Dierssen, Mara

    2010-11-10

    Down syndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. Understanding the consequences of dosage imbalance attributable to trisomy 21 (T21) has accelerated because of recent advances in genome sequencing, comparative genome analysis, functional genome exploration, and the use of model organisms. This has led to new evidence-based therapeutic approaches to prevention or amelioration of T21 effects on brain structure and function (cognition) and has important implications for other areas of research on the neurogenomics of cognition and behavior. PMID:21068296

  3. Donohue syndrome and use of continuous subcutaneous insulin pump therapy.

    PubMed

    Huggard, Dean; Stack, Tom; Satas, Saulius; Gorman, Clodagh O

    2015-01-01

    Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. Mutations are found on chromosome 19p13.2, and code for mutations in the INSR gene. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and avoiding fasting; in some patients, recombinant human insulin-like growth factor (rhIGF-1) has been trialled. The prognosis is poor, with most babies dying in infancy. Ethically, it is important to consider the benefit versus burden of treatment, the quality of life of the surviving patient and the parents' wishes, when making decisions regarding withholding or withdrawing care. PMID:26508115

  4. 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

  5. A meta-analysis of ursodeoxycholic acid therapy versus combination therapy with corticosteroids for PBC-AIH-overlap syndrome: evidence from 97 monotherapy and 117 combinations

    PubMed Central

    Zhang, Huawei; Li, Sainan; Yang, Jing; Zheng, Yuanyuan; Wang, Jianrong; Lu, Wenxia; Zhou, Yuqing; Yin, Qin; Zhu, Rong

    2015-01-01

    In this study, a meta-analysis of randomised controlled trials that compared ursodeoxycholic acid (UDCA) monotherapy with therapies combining UDCA and corticosteroids was performed. We found that combination therapy with UDCA and corticosteroids was more effective than UDCA monotherapy for primary biliary cirrhosis-autoimmune hepatitis-overlap syndrome. PMID:26516380

  6. Growth hormone therapy for Prader-Willi and Down syndromes: a post-modern medical dilemma.

    PubMed

    Lantos, J D

    2000-04-01

    Post-modernism means the end of traditional certainties. In this paper, growth hormone (GH) is conceptualized as a post-modern medical therapy. It is used in the treatment of conditions that are not traditional diseases, for indications that are not precisely defined. Down syndrome and Prader-Willi syndrome represent two clinical conditions in which GH can possibly be used. It is argued that the difference between the two syndromes instructs us as to the principles that might guide appropriate use of GH in the future. In particular, for children, the more GH treatment can be shown to produce benefits other than increased height, the more justifiable its use will be. PMID:10984261

  7. [Efficiency of meldonium in the complex therapy of acute coronary syndrome].

    PubMed

    Mikhin, V P; Cherniatina, M A; Panchenko, G V; Kharchenko, A V; Tsukanova, Iu A

    2014-01-01

    We examined 140 patients (mean age 54.83.1 years) with ST elevation acute coronary syndrome resulting in Q-wave myocardial infarction of the left ventricle. From the first hours complex therapy of these patients comprised meldonium (1 g/day intravenously for 2 weeks then orally until 1.5 months). Therapy with meldonium accelerated restoration of left ventricular diastolic function what was in agreement with lowering of NT-proBNT concentration in blood. It was established that administration of meldonium led to reduction of number of high grade ventricular extrasystoles during first 6 hours after thrombolysis, to lowering of blood concentration of lipoperoxide degradation products. Early use of meldonium decreases probability of emergence of fatal arrhythmias and improves prognosis of hospital stage of rehabilitation of patients with acute coronary syndrome resulting in Q-wave myocardial infarction. PMID:25902653

  8. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.

    PubMed

    Glaser, Rachel L; Goldbach-Mansky, Raphaela

    2008-07-01

    Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases present clinically with episodes of seemingly unprovoked inflammation (fever, rashes, and elevation of acute phase reactants). Understanding the genetics has led to discovery of new molecules involved in recognizing exogenous and endogenous danger signals, and the inflammatory response to these stimuli. These advances have furthered understanding of innate inflammatory pathways and spurred collaborative research in rheumatology and infectious diseases. The pivotal roles of interleukin (IL)-1beta in cryopyrin-associated periodic syndromes, tumor necrosis factor (TNF) in TNF receptor-associated periodic syndrome, and links to inflammatory cytokine dysregulation in other monogenic autoinflammatory diseases have resulted in effective therapies targeting proinflammatory cytokines IL-1beta and TNF and uncovered other new potential targets for anti-inflammatory therapies. PMID:18606080

  9. 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

  10. Effectiveness of Electroconvulsive Therapy for Depression and Cotard's Syndrome in a Patient with Frontotemporal Lobe Dementia.

    PubMed

    Kobayashi, Toshiyuki; Inoue, Koju; Shioda, Katsutoshi; Kato, Satoshi

    2012-01-01

    In the field of psychogeriatrics, the differential diagnosis of depression and dementia, as well as the treatment of depression and comorbid dementia, is an important issue. In this paper, the authors present the case of a 72-year-old woman with Cotard's syndrome and frontotemporal dementia (FTD) who was admitted to a psychiatric hospital with delusions of negation accompanied by depressive symptoms. Pharmacotherapy over a 2-year hospitalization was unsuccessful, and she was subsequently transferred to our university hospital. A total of 18 sessions of electroconvulsive therapy released her from psychomotor inhibition, appetite loss, and Cotard's delusions. The indication for electroconvulsive therapy in patients with dementia is discussed. PMID:23119214

  11. Effectiveness of Electroconvulsive Therapy for Depression and Cotard's Syndrome in a Patient with Frontotemporal Lobe Dementia

    PubMed Central

    Kobayashi, Toshiyuki; Inoue, Koju; Shioda, Katsutoshi; Kato, Satoshi

    2012-01-01

    In the field of psychogeriatrics, the differential diagnosis of depression and dementia, as well as the treatment of depression and comorbid dementia, is an important issue. In this paper, the authors present the case of a 72-year-old woman with Cotard's syndrome and frontotemporal dementia (FTD) who was admitted to a psychiatric hospital with delusions of negation accompanied by depressive symptoms. Pharmacotherapy over a 2-year hospitalization was unsuccessful, and she was subsequently transferred to our university hospital. A total of 18 sessions of electroconvulsive therapy released her from psychomotor inhibition, appetite loss, and Cotard's delusions. The indication for electroconvulsive therapy in patients with dementia is discussed. PMID:23119214

  12. 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

  13. Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy.

    PubMed

    Wiltshire, Esko; Wickremesekera, Agadha; Dixon, Joanne

    2005-07-01

    Floating-Harbor syndrome is a rare syndrome with short stature, severely delayed bone age, typical facies and delay in expressive speech. Structural malformations are uncommon, and tethered cord or other forms of spinal dysraphism have not previously been reported. We report on a case of Floating-Harbor syndrome, complicated by tethered cord and discuss the possibility that growth hormone therapy may contribute to the development of symptoms of this malformation. PMID:15889416

  14. Combination of Steven-Johnson syndrome and neuroleptic malignant syndrome following carbamazepine therapy: a rare occurrence

    PubMed Central

    Sharma, Bhawna; Sannegowda, Raghavendra Bakki; Gandhi, Pankaj; Dubey, Parul; Panagariya, Ashok

    2013-01-01

    StevensJohnson syndrome (SJS) is a severe, episodic, acute mucocutaneous reaction that is most often elicited by drugs and occasionally by infections. The drugs commonly implicated as the cause of SJS are anticonvulsants, sulfonamides, non-steroidal anti-inflammatory drugs and antibiotics. Carbamazepine (CBZ) has been commonly implicated in SJS. Neuroleptic malignant syndrome (NMS) is a rare, life-threatening but potentially treatable condition. Among the neuroleptics, haloperidol (parenteral) is implicated as a most common drug for NMS. Though rare, association of NMS with CBZ and association of NMS with toxic epidermal necrolysis (TEN) in a single patient after administration of neuroleptics has been reported in the literature before. However, a combination of NMS and SJS in a single patient after administration of CBZ has not been reported so far. We present a patient with seizure who developed SJS and NMS following administration of CBZ. PMID:23761563

  15. Normalization of central cord syndrome spinal cord injury urodynamics after intrathecal baclofen therapy: a case report.

    PubMed

    Schreiber, Adam L; Fried, Guy W; Formal, Christopher S

    2009-10-01

    Objective.?To report a case of improved urodynamics in a central cord syndrome spinal cord injury after intrathecal baclofen therapy. Methods.?A 47-year-old man fell resulting in C4-C5 disc herniation with ventral spinal cord compression and cord edema. Results.?He underwent an anterior cervical discectomy and fusion. Postoperatively, his examination revealed a C4 ASIA D injury in a central cord syndrome pattern. Cystometrogram (CMG) revealed a hyperactive detrusor with sphincter dyssynergia managed with intermittent self-catheterization. One and a half years later, he was impaired by severe lower limb spasticity, despite oral medications and botulinum toxin injections. After intrathecal pump therapy, CMG revealed relatively normal detrusor and minimal sphincter tone. He volitionally voids with urgency but improved continence, which was maintained in one-year follow-up. Conclusion.?Although the main indication for intrathecal baclofen therapy is spasticity, improved urodynamics can be an additional benefit in central cord syndrome spinal cord injury. PMID:22151422

  16. DRESS syndrome due to antibiotic therapy of osteoarticular infections in children: two case reports.

    PubMed

    Ramírez, A; Abril, J C; Cano, J

    2015-01-01

    Osteoarticular infection in children frequently occurs before 10 years of age. Surgical drainage is sometimes required, whereas acute osteomyelitis can be treated with antibiotic therapy alone. The duration of antibiotic therapy varies, 2 weeks is sufficient for septic arthritis, whereas 6 weeks is often required for complicated cases. Some of these antibiotic drugs present direct complications with low clinical impact in certain individuals. Hypersensitivity to these drugs causes different reactions in children. DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) is a severe and potentially life-threatening drug reaction. It is characterised by high fever, malaise, lymphadenopathy and skin rash. From a clinical perspective, these symptoms can lead to an exacerbation of the initial infectious process for which treatment was commenced. The liver is the organ most often affected in DRESS syndrome associated with haematological changes, potentially similar to sepsis. We present two cases of children with osteoarticular infections who developed DRESS syndrome after antibiotic therapy. Both patients made a complete recovery after cessation of the antibiotic drugs used. PMID:25052739

  17. Aging and Down syndrome: implications for physical therapy.

    PubMed

    Barnhart, Robert C; Connolly, Barbara

    2007-10-01

    The number of people over the age of 60 years with lifelong developmental delays is predicted to double by 2030. Down syndrome (DS) is the most frequent chromosomal cause of developmental delays. As the life expectancy of people with DS increases, changes in body function and structure secondary to aging have the potential to lead to activity limitations and participation restrictions for this population. The purpose of this update is to: (1) provide an overview of the common body function and structure changes that occur in adults with DS as they age (thyroid dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer disease, depression) and (2) apply current research on exercise to the prevention of activity limitations and participation restrictions. As individuals with DS age, a shift in emphasis from disability prevention to the prevention of conditions that lead to activity and participation limitations must occur. Exercise programs appear to have potential to positively affect the overall health of adults with DS, thereby increasing the quality of life and years of healthy life for these individuals. PMID:17712035

  18. 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

  19. Therapy-related myelodysplastic syndrome developed by dacarbazine, nimustine hydrochloride and vincristine sulfate (DAV) therapy for patient with malignant melanoma.

    PubMed

    Nitta, Yukiko; Ikeya, Toshihiko; Sakakibara, Akihiro; Tomita, Yasushi

    2011-02-01

    Therapy-related myelodysplastic syndrome (t-MDS) is mostly attributed to chemotherapeutic agents of alkylating agents. Few studies have evaluated the late effects of chemotherapy for malignant melanoma (MM). To evaluate whether dacarbazine, nimustine hydrochloride and vincristine sulfate (DAV) therapy for MM related to t-MDS or not, a retrospective analysis was performed. We conducted a retrospective case-control study in a cohort of the 217 patients diagnosed with MM from 1989-2007 in Aichi Medical University Department of Dermatology and Nagoya University Graduate School of Medicine Department of Dermatology. One hundred and fifty-five of the 217 patients with MM were prospectively followed after DAV therapy or with or without local injection of ?-interferon, of whom two patients developed t-MDS. Cytogenetic abnormalities were found in two of the 35 patients by chromosome banding method - leukemia (G-Banding). The karyotypes were found in the chromosome of -5, deletion (5), addition (7) and 7q-. In conclusion, DAV therapy should be used carefully for older patients with MM after satisfactory operation. PMID:21269313

  20. 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; Schlmerich, J; Mller-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

  1. [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

  2. 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

  3. 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

  4. The Effect of Polarized Polychromatic Noncoherent Light (Bioptron) Therapy on Patients with Carpal Tunnel Syndrome

    PubMed Central

    Raeissadat, Seyed Ahmad; Rayegani, Seyed Mansoor; Rezaei, Sajad; Bahrami, Mohammad Hasan; Eliaspour, Dariush; Karimzadeh, Afshin

    2014-01-01

    Introduction: To study the effects of Polarized Polychromatic Noncoherent Light (Bioptron) therapy on patients with carpal tunnel syndrome (CTS). Methods: This study was designed as a randomized clinical trial. Forty four patients with mild or moderate CTS (confirmed by clinical and electrodiagnostic studies) were assigned randomly into two groups (intervention and control goups). At the beginning of the study, both groups received wrist splinting for 8 weeks. Bioptron light was applied for the intervention group (eight sessions, for 3/weeks). Bioptron was applied perpendicularly to the wrist from a 10 centimeter sdistance. Pain severity and electrodiagnostic measurements were compared from before to 8 weeks after initiating each treatment. Results: Eight weeks after starting the treatments, the mean of pain severity based on Visual Analogue Scale (VAS) scores decreased significantly in both groups. Median Sensory Nerve Action Potential (SNAP) latency decreased significantly in both groups. However, other electrophysiological findings (median Compound Motor Action Potential (CMAP) latency and amplitude, also SNAP amplitude) did not change after the therapy in both groups. There was no meaningful difference between two groups regarding the changes in the pain severity. Conclusion: Bioptron with the above mentioned parameters led to therapeutic effects equal to splinting alone in patients with carpal tunnel syndrome. However, applying Bioptron with different therapeutic protocols and light parameters other than used in this study, perhaps longer duration of therapy and long term assessment may reveal different results favoring Bioptron therapy. PMID:25606338

  5. Emerging therapies for treatment of acute lung injury and acute respiratory distress syndrome.

    PubMed

    Bosma, Karen J; Lewis, James F

    2007-09-01

    Acute lung injury/acute respiratory distress syndrome (ALI/ARDS) is a life-threatening form of respiratory failure that affects a heterogeneous population of critically ill patients. Although overall mortality appears to be decreasing in recent years due to improvements in supportive care, there are presently no proven, effective pharmacological therapies to treat ARDS and prevent its associated complications. The most common cause of death in ARDS is not hypoxemia or pulmonary failure, but rather multiple organ dysfunction syndrome (MODS), suggesting that improving survival in patients with ARDS may be linked to decreasing the incidence or severity of MODS. The key to developing novel treatments depends, in part, on identifying and understanding the mechanisms by which ARDS leads to MODS, although the heterogeneity and complexity of this disorder certainly poses a challenge to investigators. Novel therapies in development for treatment of ALI/ARDS include exogenous surfactant, therapies aimed at modulating neutrophil activity, such as prostaglandin and complement inhibitors, and treatments targeting earlier resolution of ARDS, such as beta-agonists and granulocyte macrophage colony-stimulating factor. From a clinical perspective, identifying subpopulations of patients most likely to benefit from a particular therapy and recognising the appropriate stage of illness in which to initiate treatment could potentially lead to better outcomes in the short term. PMID:17874973

  6. Thrombolytic therapy at systemic lupus onset with secondary antiphospholipid syndrome

    PubMed Central

    Loharia, Juned J.; Alam, Junaid M.; Abdelhadi, Hassan A.; Marei, Tamer F.

    2015-01-01

    Strokes are a major cause of disability in systemic lupus erythematosus (SLE). Classical neurological manifestations are rare at onset. The use of thrombolytic therapy improves clinical outcome in eligible stroke patients who present early. Modern imaging modalities augment decision making. This 37-year-old woman presented with an acute stroke with National Institute of Health stroke scale 10. The CT showed a hyperdense middle cerebral artery (MCA) dot sign. The magnetic resonance angiography revealed focal thromboembolic occlusion at the insular MCA segment (M2). Intravenous recombinant tissue plasminogen activator (rtPA) was administered with successful recanalization. The present case was a rare event for rtPA use in acute MCA occlusion with underlying latent lupus. Acute vascular event thrombolysis as the presenting manifestation of autoimmune disease has not previously been encountered on literature review. Stroke pathophysiology in conditions of hypercoagulability is a significant clinical entity where the implication for thrombolytic use requires further studies. An ischemic stroke with underlying connective tissue disease benefits from timely multimodal brain imaging and should be considered for reperfusion. PMID:25630783

  7. Combination therapy of ursodeoxycholic acid and budesonide for PBCAIH overlap syndrome: a meta-analysis

    PubMed Central

    Zhang, Huawei; Yang, Jing; Zhu, Rong; Zheng, Yuanyuan; Zhou, Yuqing; Dai, Weiqi; Wang, Fan; Chen, Kan; Li, Jingjing; Wang, Chengfen; Li, Sainan; Liu, Tong; Abudumijiti, Huerxidan; Zhou, Zheng; Wang, Jianrong; Lu, Wenxia; Wang, Junshan; Xia, Yujing; Zhou, Yingqun; Lu, Jie; Guo, Chuanyong

    2015-01-01

    In this study, a meta-analysis of randomized controlled trials comparing ursodeoxycholic acid (UDCA) monotherapy with combination therapies utilizing UDCA and budesonide was performed. We found that combination therapy with UDCA and budesonide was more effective than UDCA monotherapy for primary biliary cirrhosisautoimmune hepatitis overlap syndrome. Moreover, compared to prednisone, budesonide has fewer side effects. PMID:25632224

  8. 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

  9. Pharmacologic and complementary and alternative medicine therapies for irritable bowel syndrome.

    PubMed

    Chey, William D; Maneerattaporn, Monthira; Saad, Richard

    2011-09-01

    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

  10. When should iron chelation therapy be considered in patients with myelodysplasia and other bone marrow failure syndromes with iron overload?

    PubMed

    Bird, R J; Kenealy, M; Forsyth, C; Wellwood, J; Leahy, M F; Seymour, J F; To, L B

    2012-04-01

    Despite the absence of a robust evidence base, there is growing consensus that effective treatment of iron overload leads to decreased morbidity and premature mortality in patients with good prognosis myelodysplastic syndromes (MDSs). Furthermore, new treatment modalities, including disease-modifying therapies (lenalidamide and azacytidine) and reduced intensity conditioning therapies for allogeneic blood stem cell transplants, are offering the prospect of longer survival for patients with traditionally less favourable prognosis MDS, who might also benefit from iron chelation. This article proposes assessment of patients with MDS and related bone marrow failure syndromes to determine suitability for iron chelation. Iron chelation therapy options and monitoring are discussed. PMID:22498118

  11. Highly active antiretroviral therapy-associated metabolic syndrome: pathogenesis and cardiovascular risk.

    PubMed

    Barbaro, Giuseppe

    2006-01-01

    The introduction of highly active antiretroviral therapy (HAART) has significantly modified the course of HIV disease, with longer survival and improved quality of life of HIV-infected subjects. However, HAART regimens, especially those including protease inhibitors (PIs) have been shown to cause in a high proportion of HIV-infected patients a metabolic syndrome that may be associated with an increased risk of cardiovascular disease (about 1.4 cardiac events per 1,000 years of therapy according to the Framingham score). Metabolic features associated with somatic changes (lipodystrophy/lipoatrophy) include dyslipidemia (about 70% of patients), insulin resistance (elevated C-peptide and insulin), type 2 diabetes mellitus (8%-10% of the patients), hypertension (up to 75% of patients), coagulation abnormalities (25% of patients), lactic acidemia, and elevated hepatic transaminases (nonalcoholic steatohepatitis). HAART-associated metabolic syndrome is an increasingly recognized clinical entity. A better understanding of the molecular mechanisms responsible for this syndrome will lead to the discovery of new drugs that will reduce the cardiovascular risk in patients under HAART. A careful stratification of the cardiovascular risk and cardiovascular monitoring of patients under HAART is needed according to the most recent clinical guidelines. PMID:16772767

  12. 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

  13. Conus magus vs. Irukandji syndrome: a computational approach of a possible new therapy.

    PubMed

    Andrs, Csaba D; Albert, Csilla; Salamon, Szidnia; Glicza, Judit; Andrs, Rka; Andrs, Emil

    2011-10-10

    The Irukandji syndrome is caused by the sting of some small jellyfish species. The syndrome has severe life-threatening consequences. The exacerbating pain and cardiovascular symptoms (tachycardia and hypertension) are hard to control in many cases. We suggest a way to experiment a new possible therapy with an FDA approved analgesic, ziconotide, a synthetic derivative from a marine cone snail (Conus magus) venom component, which is administrated intravenously. The proposed experimental plasma concentration of ziconotide for rats is in the range of 0-6?gml(-1). Based on a molecular biological scenario of the venom action mechanism at cellular level, we suggest that the proposed method should be functional in re-establishing the normal cardiovascular parameters of the experimental animals and concomitantly it should abolish the severe pain caused by envenomation. We expect that positive experimental results in agreement with our theory will lead to the possibility of a new therapy for the Irukandji syndrome and possibly for other envenomations with similar ethyology. PMID:21777663

  14. The Effect of Extracorporeal Shock Wave Therapy on Myofascial Pain Syndrome

    PubMed Central

    Jeon, Jong Hyun; Jung, Yun Jae; Lee, Ju Youn; Choi, Ji Soo; Mun, Jeong Hyeon; Park, Won Yong; Seo, Cheong Hoon

    2012-01-01

    Objective To investigate the effect of extracorporeal shock wave therapy (ESWT) on myofascial pain syndrome (MPS). Method Thirty patients with MPS in trapezius muscle were randomly divided into two groups, ESWT group (n=15), and trigger point injections (TPI)+transcutaneous electrical nerve stimulation (TENS) group (n=15). For a total of 3 weeks, ESWT was undertaken with 1,500 pulse each time at one week interval totaling 4,500 pulse, TPI for once a week totaling three times and TENS for five times a week totaling three weeks. Results The changes in pain threshold (lb/cm2) showed the values of 6.861.35 before first therapy, 11.430.27 after first therapy, and 12.570.72 after third therapy, while TPI+TENS group showed the values of 6.201.92 before first therapy, 8.800.48 after first therapy, and 9.602.19 after third therapy, and the changes between the groups were significantly different (p=0.045). The changes in visual analog scale were estimated to be 6.860.90 before first therapy, 2.860.90 after first therapy, and 1.860.69 after third therapy in case of ESWT group, whereas the figures were estimated to be 7.201.30 before first therapy, 4.600.55 after first therapy, and 2.800.84 after third therapy in case of TPI+TENS group, and the changes between the groups were significantly different (p=0.010). The changes in McGill pain questionnaire (p=0.816) and pain rating scale (p=0.644) between the groups were not significantly different. The changes in neck ROM were also not significantly different between the groups (p>0.05). Conclusion The ESWT in patients with MPS in trapezius muscle are as effective as TPI and TENS for the purpose of pain relief and improving cervical range of motion. PMID:23185731

  15. Hematologic responses to deferasirox therapy in transfusion-dependent patients with myelodysplastic syndromes

    PubMed Central

    Gattermann, Norbert; Finelli, Carlo; Della Porta, Matteo; Fenaux, Pierre; Stadler, Michael; Guerci-Bresler, Agnes; Schmid, Mathias; Taylor, Kerry; Vassilieff, Dominique; Habr, Dany; Marcellari, Andrea; Roubert, Bernard; Rose, Christian

    2012-01-01

    Background Reductions in transfusion requirements/improvements in hematologic parameters have been associated with iron chelation therapy in transfusion-dependent patients, including those with myelodysplastic syndromes; data on there reductions/improvements have been limited to case reports and small studies. Design and Methods To explore this observation in a large population of patients, we report a post-hoc analysis evaluating hematologic response to deferasirox in a cohort of iron-overloaded patients with myelodysplastic syndromes enrolled in the Evaluation of Patients Iron Chelation with Exjade (EPIC) study using International Working Group 2006 criteria. Results Two-hundred and forty-seven, 100 and 50 patients without concomitant medication for myelodysplastic syndromes were eligible for analysis of erythroid, platelet and neutrophil responses, respectively. Erythroid, platelet and neutrophil responses were observed in 21.5% (53/247), 13.0% (13/100) and 22.0% (11/50) of the patients after a median of 109, 169 and 226 days, respectively. Median serum ferritin reductions were greater in hematologic responders compared with non-responders at end of study, although these differences were not statistically significant. A reduction in labile plasma iron to less than 0.4 ?mol/L was observed from week 12 onwards; this change did not differ between hematologic responders and non-responders. Conclusions This analysis suggests that deferasirox treatment for up to 1 year could lead to improvement in hematologic parameters in some patients with myelodysplastic syndromes. PMID:22419577

  16. The role of nutritional therapy in the treatment of equine Cushing's syndrome and laminitis.

    PubMed

    Harman, J; Ward, M

    2001-09-01

    Equine Cushing's syndrome, a relatively common and complex condition, is difficult to treat with conventional medicine. Cushing's syndrome involves a hyperplasia or adenoma of the anterior pituitary gland. Biochemical alterations include increased endogenous cortisol, insulin resistance, elevated adrenocorticotrophic hormone, and decreased thyroid hormone levels. Symptoms include hirsutism with no loss of the winter coat in summer, refractory laminitis, weight problems (over- or underweight), polyuria/polydipsia (Pu/Pd), frequent infections, lowered immunity to intestinal parasites, decreased intestinal wall integrity, and infertility. Laminitis (an inflammation of the laminae of the foot) is a common and often fatal complication of Cushing's syndrome that tends to be refractory to conventional treatment. One of the most common therapies is phenylbutazone, a non-steroidal anti-inflammatory drug (NSAID) known to cause significant changes in the permeability of the intestinal wall. Recent research has shown an intestinal bacterial exotoxin to be one of the triggering factors in laminitis. By removing phenylbutazone and healing the intestinal wall, laminitis becomes more responsive to treatment. Good hoof-care combined with nutritional management and the application of other modalities, including acupuncture and Chinese and Western herbs, can complete the healing process. The successful treatment of equine Cushing's syndrome is one of the best examples of treating a disease using the holistic approach. While each case requires different combinations of modalities, the outcome is usually positive with individually selected treatments. PMID:11591169

  17. Antibiotic or bacterial therapy in post-giardiasis irritable bowel syndrome.

    PubMed

    Morken, Mette Helvik; Valeur, Jrgen; Norin, Elisabeth; Midtvedt, Tore; Nysaeter, Gunnar; Berstad, Arnold

    2009-01-01

    OBJECTIVE. Intestinal infection with Giardia lamblia may lead to therapy-resistant, long-lasting post-giardiasis irritable bowel syndrome (IBS). We report two open pilot studies aiming to treat this condition, using either antibiotics or bacterio-therapy. MATERIAL AND METHODS. Twenty-eight patients with persistent abdominal symptoms, following clearance of G. lamblia infection, were investigated. Eighteen received treatment with rifaximin plus metronidazole (8-10 days) whereas 10 received a suspension of live faecal flora, installed into the duodenum during gastro-duodenoscopy. Customary abdominal symptoms and symptoms following a lactulose breath test were quantified by questionnaires. Hydrogen and methane production after lactulose were analysed in expired air and excretion of fat and short-chain fatty acids (SCFAs) was examined in faeces. RESULTS. As compared with pre-treatment values, total customary symptom scores were barely significantly reduced (p = 0.07) after antibiotics, but were highly significantly reduced (p = 0.0009) after bacterio-therapy. However, symptom improvement following bacterio-therapy did not persist 1 year later. Hydrogen breath excretion was slightly reduced after antibiotics, but not after bacterio-therapy. Compared with healthy persons, faecal excretion of fat was significantly increased in Giardia-cured patients. SCFAs were increased in the bacterio-therapy group, and were not influenced by therapy. CONCLUSIONS. Both antibiotics and bacterio-therapy were ineffective with respect to cure of post-giardiasis IBS. High faecal excretion of fat and SCFAs suggests that intestinal malabsorption of fat and carbohydrates may play a role in the IBS-like complaints of these patients. PMID:19821794

  18. The effect of biofeedback therapy on dyssynergic constipation in patients with or without Irritable Bowel Syndrome

    PubMed Central

    Ahadi, Tannaz; Madjlesi, Faezeh; Mahjoubi, Bahar; Mirzaei, Rezvan; Forogh, Bijan; Daliri, Seyedeh Somayeh; Derakhshandeh, Seyed Majid; Behbahani, Roxana Bazaz; Raissi, G. Reza

    2014-01-01

    Background: The Rome II and III diagnostic criteria for dyssynergic defecation recommended the exclusion of irritable bowel syndrome (IBS). This study determined the effect of biofeedback therapy on dyssynergic constipation in patients with or without IBS. Materials and Methods: This study was a nonrandomized, single blinded, semi experimental study. Dyssynergic defecation patients with and without IBS were asked to undergo biofeedback therapy 8 sessions. The defecation dynamics and balloon expulsion time were evaluated before, at the end and 1 month after the biofeedback therapy. IBS symptoms were graded using a 4-point Likert scale. Mann–Whitney U-test, Wilcoxon test and Friedman test were applied to analyze data using SPSS software package (SPSS Inc., Chicago, IL, USA). Results: After the biofeedback therapy, the IBS symptoms have been decreased significantly (the median of 2 before and 1 after therapy, P < 0.01). The biofeedback therapy significantly decreased the anismus index in IBS group by the mean of 0.75 ± 0.31, 0.28 ± 0.07 and 0.28 ± 0.06 in three phases, respectively. Similar results were found in non-IBS patients (the mean of 0.74 ± 0.32, 0.28 ± 0.08, 0.27 ± 0.08 in three phases, respectively). The symptoms of constipation (sensation of incomplete evacuation, difficult and painful defecation), defecation facilitative manual maneuver frequency, pelvic floor muscles resting amplitude and strain amplitude decreased and squeezing amplitude improved significantly after biofeedback therapy in both groups with and without IBS (P < 0.001). There were not significant differences between patients with and without IBS (P > 0.05) with respect to outcome. No complication was observed in treatment groups. Conclusion: Dyssynergic constipation patients with and without IBS will likely benefit from biofeedback therapy. PMID:25538778

  19. [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

  20. Review of intravesical therapies for bladder pain syndrome/interstitial cystitis.

    PubMed

    Cvach, Kristina; Rosamilia, Anna

    2015-12-01

    Bladder pain syndrome/interstitial cystitis (BPS/IC) is a chronic pain condition characterised by urinary frequency, urgency and pain or discomfort which the patient attributes to the bladder. It is a complex condition to manage and treat and requires a multi-disciplinary and multi-modal approach. As well as lifestyle and behavioural modifications, physical therapy and oral medications, intravesical treatments can be used in the treatment algorithm for BPS/IC. A number of intravesical agents are reviewed in this paper along with the available evidence for their use. PMID:26816864

  1. Review of intravesical therapies for bladder pain syndrome/interstitial cystitis

    PubMed Central

    Rosamilia, Anna

    2015-01-01

    Bladder pain syndrome/interstitial cystitis (BPS/IC) is a chronic pain condition characterised by urinary frequency, urgency and pain or discomfort which the patient attributes to the bladder. It is a complex condition to manage and treat and requires a multi-disciplinary and multi-modal approach. As well as lifestyle and behavioural modifications, physical therapy and oral medications, intravesical treatments can be used in the treatment algorithm for BPS/IC. A number of intravesical agents are reviewed in this paper along with the available evidence for their use. PMID:26816864

  2. Cauda equina syndrome associated with multiple lumbar arachnoid cysts in ankylosing spondylitis: improvement following surgical therapy.

    PubMed Central

    Shaw, P J; Allcutt, D A; Bates, D; Crawford, P J

    1990-01-01

    A case of cauda equina syndrome with multiple lumbar arachnoid cysts complicating ankylosing spondylitis (AS) is described. The value of computerised tomography (CT) and magnetic resonance imaging (MRI) as a non-invasive means of establishing the diagnosis is emphasised. In contrast to previously reported cases the patient showed neurological improvement following surgical therapy. Surgery may be indicated in some patients, particularly when there is nerve root compression by the arachnoid cysts and when the patient is seen early before irreversible damage to the cauda equina has occurred. Images PMID:2292702

  3. Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant

    PubMed Central

    Arranz, Leonor; Aldamiz-Echevarria, Luis

    2015-01-01

    The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development. PMID:26937401

  4. Drug-induced lupus and antiphospholipid syndrome associated with cysteamine therapy.

    PubMed

    Krischock, Leah; Horsfield, Catherine; D'Cruz, David; Rigden, Susan P A

    2009-06-01

    Serological evidence of drug-induced lupus (DIL) and antiphospholipid syndrome (APS) were detected in a paediatric patient with nephropathic cystinosis during work-up for live related renal transplantation. Cysteamine was considered the most likely cause. Antinuclear (ANA) and antihistone antibodies disappeared after stopping cysteamine. ANA became positive after reintroduction of cysteamine. The patient's post-transplant course was complicated by severe thrombosis, with histological findings in her native nephrectomy consistent with APS. This is the first reported case of DIL and APS secondary to cysteamine therapy. Clinicians should exclude autoimmune abnormalities in patients with cystinosis, especially if patients report non-specific, unusual or unexplained symptoms. PMID:19324914

  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. 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-α 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.

  7. 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

  8. NTOS symptoms and mobility: a case study on neurogenic thoracic outlet syndrome involving massage therapy.

    PubMed

    Streit, Robin S

    2014-01-01

    Neurogenic thoracic outlet syndrome (NTOS) is a neuromuscular condition affecting brachial plexus functionality. NTOS is characterized by paresthesia, pain, muscle fatigue, and restricted mobility in the upper extremity. This study quantified massage therapy's possible contribution to treatment of NTOS. A 24-year-old female with NTOS received eight treatments over 35 days. Treatment included myofascial release, trigger point therapy, cross fiber friction, muscle stripping, and gentle passive stretching. Abduction and lateral rotation at the glenohumeral (GH joint) assessments measured range of motion (ROM). A resisted muscle test evaluated upper extremity strength. The client rated symptoms daily via a visual analog scale (VAS). Findings showed improvement in ROM at the GH joint. VAS ratings revealed a reduction in muscle weakness, pain, numbness, and 'paresthesia'. Results suggest massage may be useful as part of a broad approach to managing NTOS symptoms and improving mobility. PMID:24411148

  9. Hyperglycemic Hyperosmolar Syndrome Caused by Steroid Therapy in a Patient with Lupus Nephritis

    PubMed Central

    Kang, Seok-Hui; Lee, Ja-Young; Park, Hoon-Suk; Sun, In-O; Choi, Sun-Ryoung; Chung, Byung-Ha; Choi, Bum-Soon; Yang, Chul-Woo; Kim, Yong-Soo

    2011-01-01

    A 51-yr-old female was referred to our outpatient clinic for the evaluation of generalized edema. She had been diagnosed with idiopathic thrombocytopenic purpura (ITP). She had taken no medicine. Except for the ITP, she had no history of systemic disease. She was diagnosed with systemic lupus erythematosus. Immunosuppressions consisting of high-dose steroid were started. When preparing the patient for discharge, a generalized myoclonic seizure occurred at the 47th day of admission. At that time, the laboratory and neurology studies showed hyperglycemic hyperosmolar syndrome. Brain MRI and EEG showed brain atrophy without other lesion. The seizure stopped after the blood sugar and serum osmolarity declined below the upper normal limit. The patient became asymptomatic and she was discharged 10 weeks after admission under maintenance therapy with prednisolone, insulin glargine and nateglinide. The patient remained asymptomatic under maintenance therapy with deflazacort and without insulin or medication for blood sugar control. PMID:21394317

  10. [Ventricular arrhythmias and cardiac late potentials inpatients with acute coronary syndrome after reperfusion therapy].

    PubMed

    Tatarchenko, I P; Pozdniakova, N V; Petranin, A Iu; Morozova, O I

    2005-01-01

    The prognostic value of ventricular late potentials (VLP) and the character of rhythm disturbance were studied in 64 patients with acute coronary syndrome. 8 hours after system thrombolysis procedure VLP rate increased from 68.6% up to 85.7%. In all cases of reperfusion arrhythmia deterioration of signal-averaged ECG (SAECG) parameters and VLP were observed. Within the hospital treatment period VLP rate in the 1st group (patients receiving thrombolytic therapy) was lower than in the 2nd (no thrombolytic therapy). In the 1st group VLP was observed in 31.4% of the patients on the 10th day and in 11.4% by the end of hospital treatment; in the 2nd group--in 48.3% and 41.4% of the patients, respectively (p < 0.05). Administration of beta-adrenoblockers in both groups allowed improvement of SAECG parameters and cardiac rhythm variability. PMID:15984576

  11. Multimodal therapy for category III chronic prostatitis/chronic pelvic pain syndrome in UPOINTS phenotyped patients

    PubMed Central

    MAGRI, VITTORIO; MARRAS, EMANUELA; RESTELLI, ANTONELLA; WAGENLEHNER, FLORIAN M.E.; PERLETTI, GIANPAOLO

    2015-01-01

    The complex network of etiological factors, signals and tissue responses involved in chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) cannot be successfully targeted by a single therapeutic agent. Multimodal approaches to the therapy of CP/CPPS have been and are currently being tested, as in the frame of complex diagnostic-therapeutic phenotypic approaches such as the urinary, psychosocial, organ-specific, infection, neurological and muscle tenderness (UPOINTS) system. In this study, the effect of combination therapy on 914 patients diagnosed, phenotyped and treated in a single specialized prostatitis clinic was analyzed. Patients received ?-blockers, Serenoa repens (S. repens) extracts combined or not with supplements (lycopene and selenium) and, in the presence of documented or highly suspected infection, antibacterial agents. Combination treatment induced marked and significant improvements of National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) prostatitis symptom scores, International Index of Erectile Function (IIEF) sexual dysfunction scores, urinary peak flow rates and bladder voiding efficiency. These improvements, assessed after a 6-month course of therapy, were sustained throughout a follow-up period of 18 months. A clinically appreciable reduction of ?6 points of the total NIH-CPSI score was achieved in 77.5% of patients subjected to combination therapy for a period of 6 months. When the patients were divided in two cohorts, depending on the diagnosis of CP/CPPS [inflammatory (IIIa) vs. non-inflammatory (IIIb) subtypes], significant improvements of all signs and symptoms of the syndrome were observed in both cohorts at the end of therapy. Intergroup comparison showed that patients affected by the IIIa sub-category of CP/CPPS showed more severe signs and symptoms (NIH-CPSI total, pain and quality of life impact scores, and Qmax) at baseline when compared with IIIb patients. However, the improvement of symptoms after therapy was significantly more pronounced in IIIa patients when compared with IIIb patients. In contrast to current opinion, the evidence emerging from the present investigation suggests that the inflammatory and non-inflammatory sub-categories of CP/CPPS may represent two distinct pathological conditions or, alternatively, two different stages of the same condition. In conclusion, a simple protocol based on ?-blockers, S. repens extracts and supplements and antibacterial agents, targeting the urinary, organ specific and infection domains of UPOINTS, may induce a clinically appreciable improvement of the signs and symptoms of CP/CPPS in a considerable percentage of patients. In patients not responding sufficiently to such therapy, second-line agents (antidepressants, anxiolytics, muscle relaxants, 5-phosphodiesterase inhibitors and others) may be administered in order to achieve a satisfactory therapeutic response. PMID:25667610

  12. The effect of cetylated fatty esters and physical therapy on myofascial pain syndrome of the neck.

    PubMed

    Sharan, Deepak; Jacob, Biju Nirmal; Ajeesh, P S; Bookout, Jack B; Barathur, Raj R

    2011-07-01

    Participants with Myofascial Pain Syndrome (MPS) of the neck were randomly assigned into 2 groups of the double-blinded study: topical cetylated fatty ester complex (CFEC) cream application plus physical therapy (CF-PT; n=37), and placebo cream application plus physical therapy (PL-PT; n=35). There were 3 visits during 4 weeks of treatment. Physical Therapy (PT), given twice/week, included Ischaemic Compression, Deep Pressure Trigger Point Massage and Myofascial Releases. Topical cream [CFEC cream (5.6%) and 1.5% menthol] or placebo cream [1.5% menthol, in a cream base] was applied twice/day. CF-PT provided the fastest and most effective study treatment modality. The addition of CFEC cream to PT resulted in statistically significant improvements, compared to PL-PT, for reduction of pain, neck disability and life quality indicators. Our results indicate that cetylated derivatives of fatty acids can effectively reduce pain and symptoms associated with neck MPS, when combined with physical therapy. PMID:21665114

  13. 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 Adsons 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

  14. Biofeedback therapy for chronic constipation in a patient with Prader-Willi syndrome

    PubMed Central

    Corral, Juan E.; Kataria, Rahul; Vickers, Dawn; Koutouby, Raghad; Moshiree, Baharak

    2015-01-01

    Constipation is a common feature of Prader-Willi syndrome. Research exploring the prevalence, cause and treatment options for constipation is limited and lacks objective measurements such as anorectal manometry. We report a case of a 16-year-old lady with Prader-Willi syndrome presenting with rectal pain and constipation for 2 years despite multiple medications and weekly enemas. She also noted passive fecal incontinence that required frequent manual disimpactions. Anorectal manometry revealed an abnormal relaxation of the puborectalis and external sphincter muscles on push maneuvers suggesting dyssynergic defecation and rectal hypersensitivity. Contraction and relaxation of her pelvic muscles were recorded with electromyography. Relaxation of the puborectalis muscle improved significantly after three biofeedback sessions. Patient was successfully tapered off laxatives and has been maintained on linaclotide only. Dyssynergic defecation may be a common finding in Prader-Willi syndrome. In selected cases we recommend anorectal manometry to identify neuromuscular dysfunction and subsequent biofeedback therapy depending on the degree of mental retardation to minimize overuse of laxatives. PMID:26423048

  15. Biofeedback therapy for chronic constipation in a patient with Prader-Willi syndrome.

    PubMed

    Corral, Juan E; Kataria, Rahul; Vickers, Dawn; Koutouby, Raghad; Moshiree, Baharak

    2015-01-01

    Constipation is a common feature of Prader-Willi syndrome. Research exploring the prevalence, cause and treatment options for constipation is limited and lacks objective measurements such as anorectal manometry. We report a case of a 16-year-old lady with Prader-Willi syndrome presenting with rectal pain and constipation for 2 years despite multiple medications and weekly enemas. She also noted passive fecal incontinence that required frequent manual disimpactions. Anorectal manometry revealed an abnormal relaxation of the puborectalis and external sphincter muscles on push maneuvers suggesting dyssynergic defecation and rectal hypersensitivity. Contraction and relaxation of her pelvic muscles were recorded with electromyography. Relaxation of the puborectalis muscle improved significantly after three biofeedback sessions. Patient was successfully tapered off laxatives and has been maintained on linaclotide only. Dyssynergic defecation may be a common finding in Prader-Willi syndrome. In selected cases we recommend anorectal manometry to identify neuromuscular dysfunction and subsequent biofeedback therapy depending on the degree of mental retardation to minimize overuse of laxatives. PMID:26423048

  16. Perioperative Endocrine Therapy for Patients with Cushing's Syndrome Undergoing Retroperitoneal Laparoscopic Adrenalectomy

    PubMed Central

    Cui, Xiaobo; Yang, Lu; Li, Jianwei; Bu, Siyuan; Wei, Qiang; An, Zhenmei; Fan, Tianyong

    2012-01-01

    Objectives. To investigate the efficacy and safety of perioperative endocrine therapy (PET) for patients with Cushing's syndrome (CS) undergoing retroperitoneal laparoscopic adrenalectomy (RLA). Methods. The novel, simplified PET modality of 82 patients who underwent RLA procedures for CS were studied. Clinical manifestations were observed for all patients on days 1 and 5 postoperatively, and clinical data, such as blood pressure (BP), levels of serum cortisol, adrenocorticotropin (ACTH), blood glucose, and electrolytes, were acquired and analyzed. Results. Supraphysiological doses of glucocorticoid were administered during the perioperative period, and the dosage was reduced gradually. In all 82 cases, the RLAs were performed successfully without any perioperative complication, such as steroid withdrawal symptoms. The patient's symptoms and signs were improved quickly and safely during the hospital days. The serum cortisol and potassium levels were rather stable on days 1 and 5 postoperatively, and most were within the normal range. The clinical manifestations, serum levels of cortisol, ACTH, and potassium in most patients restored to normal gradually after several months (mean, 6.7 1.2 months), except for one patient undergoing bilateral adrenalectomy. Conclusions. This perioperative endocrine therapy for patients with Cushing's syndrome (mainly for adrenocortical adenoma) undergoing retro-laparoscopic adrenalectomy is both effective and safe. PMID:23193401

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

    PubMed Central

    Demir, Nihat; Peker, Erdal; Ece, İbrahim; Kaba, Sultan; Ağengin, Kemal; Tuncer, Oğuz

    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

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

    PubMed

    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

  19. 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

  20. 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.

  1. [Pathogenetic therapy of metabolic syndrome at the stage of visceral lesions].

    PubMed

    Stel'makh, V V; Kozlov, V K; Radchenko, V G; Nekrasova, A S

    2012-01-01

    Insulin resistance and oxidative stress play an important role in the pathogenetic mechanism of non-alcoholic fatty liver disease. Hepatoprotective therapy that blocks the second phase of pathogenesis (oxidative stress) is a promising modality for the treatment of non-alcoholic steatohepatitis (NACH). An alternative approach is the use of medicines recovering the mitochondrial membrane, lipid bi-layer of the plasma membrane, oxidative phosphorilation, and cellular metabolism. In this context, succinic acid-based remaxol showing antioxidative, antihypoxic and cytoprotective activities can be regarded as a promising metabolic hepatoprotector for the treatment of non-alcoholic fatty liver disease. The present original study demonstrated the clinical efficacy of remaxol in pathogenetic therapy of NACH in patients with metabolic syndrome. Its introduction in the combined treatment of NACH increased functional capacity of the liver by decreasing the severity of cytolysis, cholestasis, hepatomegalia, and steatosis (ultrasonic study), improved lipid metabolism, reduced cholesterol level, triglyceridemia, and atherogenic index. Remaxol exerted nephroprotective action in patients with diabetic nephropathy at stage 1 of chronic renal insufficiency (increased glomerular filtration rate and decreased blood creatinine level). The study demonstrated the advantage of medications with antihypoxic properties over traditional therapy of NACH. PMID:22997724

  2. 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 2032 months. Although extended clinical observation is required to establish long-term safety, lentiviral gene therapy represents a promising treatment for WAS. PMID:23845947

  3. 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…

  4. [Efficacy and tolerability of the combined therapy with mesipol and baclosan in chronic recurrent vertebrogenic pain syndrome].

    PubMed

    Karneev, A N; Solov'eva, E Iu; Fedin, A I

    2008-01-01

    An article highlights the pathogenetic aspects of treatment of reflex pain syndromes in the degenerative-dystrophic spinal lesions. Attention is focused on a rational combination of medications that may shorten the duration of analgesic and anti-inflammatory therapy to prevent the development of side-effects caused by non-steroid anti-inflammatory medications. The results of own research of analgesic efficacy and tolerability of treatment in 50 patients with chronic skeletal-muscle pain syndromes in the state of exacerbation assigned to the combination of a non-steroid anti-inflammatory medication mesipol (meloxicam) with a central myorelaxant baclosan (baclofen) are discussed. It was found the positive effect of therapy not only on pain syndrome but on comorbid symptoms as well. PMID:18833172

  5. Comparison of adaptive pacing therapy, cognitive behaviour therapy, graded exercise therapy, and specialist medical care for chronic fatigue syndrome (PACE): a randomised trial

    PubMed Central

    White, PD; Goldsmith, KA; Johnson, AL; Potts, L; Walwyn, R; DeCesare, JC; Baber, HL; Burgess, M; Clark, LV; Cox, DL; Bavinton, J; Angus, BJ; Murphy, G; Murphy, M; O'Dowd, H; Wilks, D; McCrone, P; Chalder, T; Sharpe, M

    2011-01-01

    Summary Background Trial findings show cognitive behaviour therapy (CBT) and graded exercise therapy (GET) can be effective treatments for chronic fatigue syndrome, but patients' organisations have reported that these treatments can be harmful and favour pacing and specialist health care. We aimed to assess effectiveness and safety of all four treatments. Methods In our parallel-group randomised trial, patients meeting Oxford criteria for chronic fatigue syndrome were recruited from six secondary-care clinics in the UK and randomly allocated by computer-generated sequence to receive specialist medical care (SMC) alone or with adaptive pacing therapy (APT), CBT, or GET. Primary outcomes were fatigue (measured by Chalder fatigue questionnaire score) and physical function (measured by short form-36 subscale score) up to 52 weeks after randomisation, and safety was assessed primarily by recording all serious adverse events, including serious adverse reactions to trial treatments. Primary outcomes were rated by participants, who were necessarily unmasked to treatment assignment; the statistician was masked to treatment assignment for the analysis of primary outcomes. We used longitudinal regression models to compare SMC alone with other treatments, APT with CBT, and APT with GET. The final analysis included all participants for whom we had data for primary outcomes. This trial is registered at http://isrctn.org, number ISRCTN54285094. Findings We recruited 641 eligible patients, of whom 160 were assigned to the APT group, 161 to the CBT group, 160 to the GET group, and 160 to the SMC-alone group. Compared with SMC alone, mean fatigue scores at 52 weeks were 3·4 (95% CI 1·8 to 5·0) points lower for CBT (p=0·0001) and 3·2 (1·7 to 4·8) points lower for GET (p=0·0003), but did not differ for APT (0·7 [−0·9 to 2·3] points lower; p=0·38). Compared with SMC alone, mean physical function scores were 7·1 (2·0 to 12·1) points higher for CBT (p=0·0068) and 9·4 (4·4 to 14·4) points higher for GET (p=0·0005), but did not differ for APT (3·4 [−1·6 to 8·4] points lower; p=0·18). Compared with APT, CBT and GET were associated with less fatigue (CBT p=0·0027; GET p=0·0059) and better physical function (CBT p=0·0002; GET p<0·0001). Subgroup analysis of 427 participants meeting international criteria for chronic fatigue syndrome and 329 participants meeting London criteria for myalgic encephalomyelitis yielded equivalent results. Serious adverse reactions were recorded in two (1%) of 159 participants in the APT group, three (2%) of 161 in the CBT group, two (1%) of 160 in the GET group, and two (1%) of 160 in the SMC-alone group. Interpretation CBT and GET can safely be added to SMC to moderately improve outcomes for chronic fatigue syndrome, but APT is not an effective addition. Funding UK Medical Research Council, Department of Health for England, Scottish Chief Scientist Office, Department for Work and Pensions. PMID:21334061

  6. Stem-Cell Gene Therapy for the WiskottAldrich Syndrome

    PubMed Central

    Boztug, Kaan; Schmidt, Manfred; Schwarzer, Adrian; Banerjee, Pinaki P.; Dez, Ins Avedillo; Dewey, Ricardo A.; Bhm, Marie; Nowrouzi, Ali; Ball, Claudia R.; Glimm, Hanno; Naundorf, Sonja; Khlcke, Klaus; Blasczyk, Rainer; Kondratenko, Irina; Mardi, Lszl; Orange, Jordan S.; von Kalle, Christof; Klein, Christoph

    2010-01-01

    SUMMARY The WiskottAldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, eczema, and autoimmunity. We treated two patients who had this disorder with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). We found sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer (NK) cells, and monocytes were functionally corrected. After treatment, the patients clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis. (Funded by Deutsche Forschungsgemeinschaft and others; German Clinical Trials Register number, DRKS00000330.) PMID:21067383

  7. 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.

  8. [Indications for statin therapy in patients with acute coronary syndrome of ischemic origin].

    PubMed

    Raddino, Riccardo; Della Pina, Paolo; Gorga, Elio; Caretta, Giorgio; Madureri, Alberto; Dei Cas, Livio

    2010-10-01

    Recent evidence has increasingly demonstrated that statins, besides reducing cholesterol levels, are as effective as other therapeutic approaches in the treatment of patients with acute coronary syndromes. Appropriate control of cardiovascular risk factors accounts for 44% of the overall reduction in mortality. The decrease in plasma cholesterol concentrations, however, remains the most effective therapeutic target, leading to a -24% reduction of total mortality. Statins have proved to be effective within the first few weeks after an acute coronary event. As a consequence, their use is recommended by current guidelines (class IB) in patients with non-ST-elevation myocardial infarction. Data from recent trials suggest that early statin therapy is a reasonable option for patients with ST-elevation myocardial infarction (class IA recommendation). PMID:21416832

  9. Photodynamic Therapy for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome

    PubMed Central

    Monteiro, Sílvia; Casal, Inês; Santos, Marinho

    2014-01-01

    Purpose. To report the treatment outcome of photodynamic therapy with verteporfin (PDT) for exudative retinal detachment (RD) associated with diffuse choroidal hemangioma in Sturge-Weber syndrome (SWS). Methods. An interventional case report of a 10-year-old girl with SWS who developed an exudative RD (visual acuity hand motions) that was treated with PDT. She was treated with a first session of multispot PDT. Posteriorly, a choroidotomy for drainage of subretinal fluid was created, combined with an intravitreal injection of gas (SF6) and cryoapplication. Finally, a second session of PDT was applied. Results. Subretinal fluid resolved over a period of one year and visual acuity increased to 20/125. Conclusions. PDT is an effective therapeutic option for exudative RD associated with diffuse choroidal hemangioma. PMID:24955093

  10. Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

    PubMed

    Boztug, Kaan; Schmidt, Manfred; Schwarzer, Adrian; Banerjee, Pinaki P; Díez, Inés Avedillo; Dewey, Ricardo A; Böhm, Marie; Nowrouzi, Ali; Ball, Claudia R; Glimm, Hanno; Naundorf, Sonja; Kühlcke, Klaus; Blasczyk, Rainer; Kondratenko, Irina; Maródi, László; Orange, Jordan S; von Kalle, Christof; Klein, Christoph

    2010-11-11

    The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, eczema, and autoimmunity. We treated two patients who had this disorder with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). We found sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer (NK) cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis. (Funded by Deutsche Forschungsgemeinschaft and others; German Clinical Trials Register number, DRKS00000330.). PMID:21067383

  11. Cross-Sectional Study of Patients With Onset of Acute Coronary Syndrome During Statin Therapy

    PubMed Central

    Akuzawa, Nobuhiro; Hatori, Takashi; Imai, Kunihiko; Kitahara, Yonosuke; Kurabayashi, Masahiko

    2015-01-01

    Background Although statin therapy significantly reduces cardiovascular morbidity and mortality, atherosclerotic plaque progresses in some patients taking statins. This study investigated the factors associated with onset of acute coronary syndrome (ACS) early after the initiation of statin therapy. Methods Consecutive patients taking statins who presented with ACS (n = 64) were divided into < 1-year and > 1-year groups based on the duration of statin therapy. Patient characteristics, coronary risk factors, lesion locations, and percutaneous intervention procedures were compared between groups. Results The < 1-year group was significantly younger (57.6 11.9 years vs. 76.6 9.1 years, P < 0.01), had significantly higher body mass index (27.22 4.20 kg/m2 vs. 24.60 4.65 kg/m2, P < 0.05), higher proportion of males (94% vs. 70%, P < 0.05), higher proportion of current smokers (61% vs. 17%, P < 0.01), and lower proportions taking aspirin and calcium antagonists (both 17% vs. 57%, P < 0.05) than the > 1-year group. In the < 1-year group, there were significant correlations between the low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) levels (r = 0.649, P = 0.004) and between the TG and hemoglobin (Hb)A1c levels (r = 0.552, P = 0.018), but these correlations were not observed a year before admission. TG level was the only parameter associated with LDL-C and HbA1c levels. Conclusions A linear correlation between the LDL-C and TG levels, obesity, older age, male sex, and smoking may be associated with increased risk of onset of ACS early after the initiation of statin therapy. Prospective cohort studies are needed to further explore these interactions. PMID:25780481

  12. TNF receptor inhibitor therapy for the treatment of children with idiopathic pneumonia syndrome (IPS)

    PubMed Central

    Yanik, Gregory A.; Grupp, Stephan A.; Pulsipher, Michael A.; Levine, John E.; Schultz, Kirk R.; Wall, Donna A.; Langholz, Bryan; Dvorak, Christopher C.; Alangaden, Keith; Goyal, Rakesh K.; White, Eric S.; Collura, Jennifer M.; Skeens, Micah A.; Eid, Saada; Pierce, Elizabeth M; Cooke, Kenneth R.

    2014-01-01

    Idiopathic pneumonia syndrome (IPS) is an acute, non-infectious lung disorder associated with high morbidity and mortality following hematopoietic cell transplantation. Previous studies have suggested a role for TNF? in the pathogenesis of IPS. We report a multi-center phase II trial investigating a soluble TNF binding protein, etanercept (Enbrel, Amgen) for the treatment of pediatric patients with IPS. Eligible patients were <18 years, within 120 days post-transplant, with radiographic evidence of a diffuse pneumonitis. All patients underwent a pre-therapy broncho-alveolor lavage (BAL) to establish the diagnosis of IPS. Systemic corticosteroids (2.0 mg/kg/day) plus etanercept (0.4 mg/kg twice weekly 8 doses) were administered. Response was defined as survival and discontinuation of supplemental oxygen support by day 28 of study. Thirty-nine patients (median age 11y, range 117y) were enrolled, with 11 of 39 patients non-evaluable due to identification of pathogens from their pre-therapy BAL. In the remaining 28 patients, the median FiO2 at study entry was 45%, with 17 of 28 requiring mechanical ventilation. Complete responses were seen in 20 (71%) patients, with a median time to response 10 days (range 124). Response rates were higher for patients not requiring mechanical ventilation at study entry (100% vs. 53%,p=0.01). Overall survival at 28 days and 1-year post-therapy were 89% (95% CI:7096) and 63% (95% CI:4279) respectively. Plasma levels of pro-inflammatory cytokines were significantly increased at onset of therapy, subsequently decreasing in responding patients. The addition of etanercept to high dose corticosteroids was associated with high response rates and survival in children with IPS. PMID:25270958

  13. Manual Therapy and Exercise for a Patient With Neck-Tongue Syndrome: A Case Report.

    PubMed

    Niethamer, Lisa; Myers, Robin

    2016-03-01

    Study Design Case report. Background Neck-tongue syndrome (NTS) is defined as neck and/or head pain accompanied by ipsilateral dysesthesia of the tongue with sudden rotation of the head. Proposed causes include compression or irritation of the C2 nerve root as it courses behind the atlantoaxial joint or hypertrophy of the inferior oblique muscle. The primary purpose of this case report was to describe the conservative physical therapy treatment of a patient with uncomplicated NTS. Case Description The patient was a 13-year-old girl who reported insidious onset of sharp pain in the neck, numbness/tingling of the ipsilateral tongue/face, and tinnitus with cervical rotation. Symptoms occurred several times a week for approximately 10 seconds. Examination revealed impaired function, increased forward head posture, decreased cervical range of motion, and positive neurodynamic assessment. The patient's treatment included manual therapy and exercise for postural stabilization. Outcomes Following 8 visits, pain of the neck and tongue numbness had resolved. Score on the Patient-Specific Functional Scale (PSFS), cervical range of motion, and posture had also improved. At the 22-month follow-up, infrequent, momentary symptoms in the neck and dysesthesia of the tongue were reported. The PSFS remained the same. Objective measures were normal. Discussion This case report describes the physical therapy management of an individual with NTS. The management strategy followed a protocol similar to that used for cervicogenic headaches, due to the involvement of the upper cervical spine with both NTS and cervicogenic headache and the lack of evidence for the treatment of NTS. Level of Evidence Therapy, level 4. J Orthop Sports Phys Ther 2016;46(3):217-224. Epub 11 Feb 2016. doi:10.2519/jospt.2016.6195. PMID:26868897

  14. 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

  15. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

    PubMed Central

    Williams, David S.

    2009-01-01

    Usher syndrome is a deafness-blindness disorder. The blindness occurs from a progressive retinal degeneration that begins after deafness and after the retina has developed. Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes giving rise to type 1, in any one of three different genes to type 2, and in one identified gene causing Usher type 3. Mutant mice for most of the genes have been studied; while they have clear inner ear defects, retinal phenotypes are relatively mild and have been difficult to characterize. The retinal functions of the Usher proteins are still largely unknown. Protein binding studies have suggested many interactions among the proteins, and a model of interaction among all the proteins in the photoreceptor synapse has been proposed. However this model is not supported by localization data from some laboratories, or the indication of any synaptic phenotype in mutant mice. An earlier suggestion, based on patient pathologies, of Usher protein function in the photoreceptor cilium continues to gain support from immunolocalization and mutant mouse studies, which are consistent with Usher protein interaction in the photoreceptor ciliary/periciliary region. So far, the most characterized Usher protein is myosin VIIa. It is present in the apical RPE and photoreceptor ciliary/periciliary region, where it is required for organelle transport and clearance of opsin from the connecting cilium, respectively. Usher syndrome is amenable to gene replacement therapy, but also has some specific challenges. Progress in this treatment approach has been achieved by correction of mutant phenotypes in Myo7a-null mouse retinas, following lentiviral delivery of MYO7A. PMID:17936325

  16. Antibody Therapy in the Management of Shiga Toxin-Induced Hemolytic Uremic Syndrome

    PubMed Central

    Tzipori, Saul; Sheoran, Abhineet; Akiyoshi, Donna; Donohue-Rolfe, Arthur; Trachtman, Howard

    2004-01-01

    Hemolytic uremic syndrome (HUS) is a disease that can lead to acute renal failure and often to other serious sequelae, including death. The majority of cases are attributed to infections with Escherichia coli, serotype O157:H7 strains in particular, which cause bloody diarrhea and liberate one or two toxins known as Shiga toxins 1 and 2. These toxins are thought to directly be responsible for the manifestations of HUS. Currently, supportive nonspecific treatment is the only available option for the management of individuals presenting with HUS. The benefit of antimicrobial therapy remains uncertain because of several reports which claim that such intervention can in fact exacerbate the syndrome. There have been only a few specific therapies directed against neutralizing the activities of these toxins, but none so far has been shown to be effective. This article reviews the literature on the mechanism of action of these toxins and the clinical manifestations and current management and treatment of HUS. The major focus of the article, however, is the development and rationale for using neutralizing human antibodies to combat this toxin-induced disease. Several groups are currently pursuing this approach with either humanized, chimeric, or human antitoxin antibodies produced in transgenic mice. They are at different phases of development, ranging from preclinical evaluation to human clinical trials. The information available from preclinical studies indicates that neutralizing specific antibodies directed against the A subunit of the toxin can be highly protective. Such antibodies, even when administered well after exposure to bacterial infection and onset of diarrhea, can prevent the occurrence of systemic complications. PMID:15489355

  17. Safety of "pain exposure" physical therapy in patients with complex regional pain syndrome type 1.

    PubMed

    van de Meent, Hendrik; Oerlemans, Margreet; Bruggeman, Almar; Klomp, Frank; van Dongen, Robert; Oostendorp, Rob; Frlke, Jan Paul

    2011-06-01

    "Pain exposure" physical therapy (PEPT) is a new treatment for patients with complex regional pain syndrome type 1 (CRPS-1) that consists of a progressive-loading exercise program and management of pain-avoidance behavior without the use of specific CRPS-1 medication or analgesics. The aim of this study was to investigate primarily whether PEPT could be applied safely in patients with CRPS-1. Twenty patients with CRPS-1 were consecutively enrolled in the study after giving informed consent. The diagnosis of CRPS-1 was defined using the Bruehl and Harden/IASP diagnostic criteria. CRPS-1 was diagnosed between 3 and 18 months after the inciting event (trauma). According to a multiple single-case design (baseline [A1], treatment [B], follow-up [A2]), multiple baseline and follow-up measurements were performed to evaluate changes in CRPS signs and symptoms and to assess functional parameters. When comparing the baseline with the follow-up phase, patients improved significantly with respect to pain on the visual analogue scale (57%), pain intensity (48%), muscle strength (52%), arm/shoulder/hand disability (36%), 10-meter walking speed (29%), pain disability index (60%), kinesiophobia (18%), and the domains of perceived health change in the SF-36 survey (269%). Three patients initially showed increased vegetative signs but improved in all other CRPS parameters and showed good functional recovery at follow-up. We conclude that PEPT is a safe and effective treatment for patients with CRPS-1. A progressive-loading exercise program and management of pain-avoidance behavior without the use of specific medication ("pain exposure" physical therapy) is safe and effective for patients with complex regional pain syndrome. PMID:21474244

  18. [Therapy of pain syndromes in multiple sclerosis -- an overview with evidence-based recommendations].

    PubMed

    Pllmann, W; Feneberg, W; Steinbrecher, A; Haupts, M R; Henze, T

    2005-05-01

    While pain is a common problem in multiple sclerosis (MS) patients, it is frequently overlooked and has to be asked for actively. Pain can be classified into 4 diagnostically and therapeutically relevant categories. 1. PAIN DIRECTLY RELATED TO MS: Painful paroxysmal symptoms like trigeminal neuralgia or painful tonic spasms are treated with carbamazepine as first choice, or lamotrigine, gabapentin, oxcarbazepine and other anticonvulsants. Painful "burning" dysaesthesia, the most frequent chronic pain syndrome, are treated with tricyclic antidepressants or carbamazepine, further options include gabapentin or lamotrigine. While escalation therapy may require opioids, the role of cannabinoids in the treatment of pain still has to be determined. 2. PAIN INDIRECTLY RELATED TO MS: Pain related to spasticity often improves with adequate physiotherapy. Drug treatment includes antispastic agents like baclofen or tizanidine, alternatively gabapentin. In severe cases botulinum toxin injections or intrathecal baclofen merit consideration. Physiotherapy and physical therapy may ameliorate malposition-induced joint and muscle pain. Moreover, painful pressure lesions should be avoided using optimally adjusted aids. 3. Treatment-related pain can occur with subcutaneous injections of beta interferons or glatiramer acetate and may be reduced by optimizing the injection technique and by local cooling. Systemic side effects of interferons like myalgias can be reduced by paracetamol or ibuprofen. 4. Pain unrelated to MS such as back pain or headache are frequent in MS patients and may be worsened by the disease. Treatment should be follow established guidelines. In summary, a careful analysis of the pain syndrome will allow the design of the appropriate treatment plan using various medical and non-medical options and thus will help to ameliorate the patients' quality of life. PMID:15880305

  19. Tacrolimus therapy in pediatric patients with treatment-resistant nephrotic syndrome.

    PubMed

    Loeffler, Kim; Gowrishankar, Manjula; Yiu, Verna

    2004-03-01

    This is a retrospective analysis of 16 children started on tacrolimus with various types of treatment-resistant nephrotic syndrome. There are 13 patients with focal glomerulosclerosis, 1 minimal change disease, and 2 IgA nephropathy with nephrosis. The mean age of the children was 11.4 years (range 3.5-18.1 years) with a mean age at diagnosis of 5.6 years (range 1.6-13.3 years). All patients initially received prednisone 2 mg/kg per day. Other therapies for 15 of 16 included cyclosporine (n=15), chlorambucil (n=5), mycophenolate mofetil (n=5), levamisole (n=3), i.v. methylprednisolone (n=3), and cyclophosphamide (n=2). The major indication for the initiation of tacrolimus included treatment resistance/dependence (n=15) and intolerable side effects from other therapies (n=1). The average time from the diagnosis to initiation of tacrolimus was 5.3 years (range 0.3-13.3 years, median 6 years). The initial dosage of tacrolimus utilized was 0.1 mg/kg per day divided into two doses. The mean follow-up period was 6.5 months (range 2.5-18 months). Thirteen patients (81%) went into a complete remission within an average of 2 months (range 0.5-5.5 months), with 3 patients relapsing while on treatment. Three patients did not respond. Of these, 2 had partial remissions (13%) and 1 failed to respond. Adverse events included anemia (n=1), seizure (n=1), worsening or new-onset hypertension (n=5), and sepsis (n=1). All patients remain on tacrolimus. Tacrolimus is an effective, well-tolerated medication for treatment-resistant forms of nephrotic syndrome in children, with a complete remission rate of 81% and a partial remission rate of 13% (totaling 94%). PMID:14758528

  20. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

    PubMed

    Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Monica, Matteo Della; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe

    2014-07-01

    Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutational screening on 303 Kabuki patients by direct sequencing, MLPA, and quantitative PCR identifying 133 KMT2D, 62 never described before, and four KDM6A mutations, three of them are novel. We found that a number of KMT2D truncating mutations result in mRNA degradation through the nonsense-mediated mRNA decay, contributing to protein haploinsufficiency. Furthermore, we demonstrated that the reduction of KMT2D protein level in patients' lymphoblastoid and skin fibroblast cell lines carrying KMT2D-truncating mutations affects the expression levels of known KMT2D target genes. Finally, we hypothesized that the KS patients may benefit from a readthrough therapy to restore physiological levels of KMT2D and KDM6A proteins. To assess this, we performed a proof-of-principle study on 14 KMT2D and two KDM6A nonsense mutations using specific compounds that mediate translational readthrough and thereby stimulate the re-expression of full-length functional proteins. Our experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with readthrough inducers. PMID:24633898

  1. Clobazam as an adjunctive therapy in treating seizures associated with LennoxGastaut syndrome

    PubMed Central

    Leahy, Jennifer T; Chu-Shore, Catherine J; Fisher, Janet L

    2011-01-01

    LennoxGastaut syndrome (LGS) is a devastating childhood epilepsy syndrome characterized by the occurrence of multiple types of seizures and cognitive decline. Most children suffer from frequent seizures that are refractory to current medical management. Recent clinical trials have suggested that addition of clobazam may improve the clinical outcome for some LGS patients. Although clobazam has been available for over five decades, it has only recently been approved by the US Food and Drug Administration for this indication. As a 1,5-benzodiazepine, clobazam is structurally related to the widely used 1,4-benzodiazepines, which include diazepam. Clobazam has been shown to modulate GABAergic neurotransmission by positive allosteric modulation of GABAA receptors, and to increase expression of transporters for both GABA and glutamate. The active metabolite n-desmethylclobazam (norclobazam) also modulates GABAA receptors, and the relative importance of these two compounds in the clinical effectiveness of clobazam remains an open question. Clinical trials involving clobazam as an addon therapy in a variety of pediatric epilepsy populations have found a significant improvement in seizure control. In patients with LGS, clobazam may have greatest efficacy for drop seizures. Longstanding clinical experience suggests that clobazam is a safe and well tolerated antiepileptic drug with infrequent and mild adverse effects. These results suggest that adjunctive treatment with clobazam may be a reasonable option for LGS patients, particularly those who are treatment-resistant. PMID:22128252

  2. Gene/cell therapy approaches for Immune Dysregulation Polyendocrinopathy Enteropathy X-linked syndrome.

    PubMed

    Passerini, Laura; Santoni de Sio, Francesca R; Porteus, Matthew H; Bacchetta, Rosa

    2014-01-01

    Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare autoimmune disease due to mutations in the gene encoding for Forkhead box P3 (FOXP3), a transcription factor fundamental for the function of thymus-derived (t) regulatory T (Treg) cells. The dysfunction of Treg cells results in the development of devastating autoimmune manifestations affecting multiple organs, eventually leading to premature death in infants, if not promptly treated by hematopoietic stem cell transplantation (HSCT). Novel gene therapy strategies can be developed for IPEX syndrome as more definitive cure than allogeneic HSCT. Here we describe the therapeutic approaches, alternative to HSCT, currently under development. We described that effector T cells can be converted in regulatory T cells by LV-mediated FOXP3-gene transfer in differentiated T lymphocytes. Despite FOXP3 mutations mainly affect a highly specific T cell subset, manipulation of stem cells could be required for long-term remission of the disease. Therefore, we believe that a more comprehensive strategy should aim at correcting FOXP3-mutated stem cells. Potentials and hurdles of both strategies will be highlighted here. PMID:25274247

  3. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

    PubMed Central

    Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Monica, Matteo Della; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe

    2014-01-01

    Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutational screening on 303 Kabuki patients by direct sequencing, MLPA, and quantitative PCR identifying 133 KMT2D, 62 never described before, and four KDM6A mutations, three of them are novel. We found that a number of KMT2D truncating mutations result in mRNA degradation through the nonsense-mediated mRNA decay, contributing to protein haploinsufficiency. Furthermore, we demonstrated that the reduction of KMT2D protein level in patients lymphoblastoid and skin fibroblast cell lines carrying KMT2D-truncating mutations affects the expression levels of known KMT2D target genes. Finally, we hypothesized that the KS patients may benefit from a readthrough therapy to restore physiological levels of KMT2D and KDM6A proteins. To assess this, we performed a proof-of-principle study on 14 KMT2D and two KDM6A nonsense mutations using specific compounds that mediate translational readthrough and thereby stimulate the re-expression of full-length functional proteins. Our experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with readthrough inducers. PMID:24633898

  4. Early extracorporeal life support as rescue therapy for severe acute respiratory distress syndrome after inhalation injury.

    PubMed

    Nelson, Jennifer; Cairns, Bruce; Charles, Anthony

    2009-01-01

    Acute respiratory distress syndrome (ARDS) remains a challenging disease leading to increased mortality in burn patients, and inhalation injury may contribute to the development of severe ARDS. Extracorporeal life support (ECLS) provides a method of gas exchange while allowing time for lung recovery in the setting of early, severe ARDS. Recent study suggests that a selected population of patients with severe ARDS may benefit from ECLS, especially if initiated early. We report a case of a 22-year-old man with Down syndrome who presented with isolated fire-induced smoke inhalation injury. He sustained no cutaneous burns. Forty-eight hours after presentation, the patient developed respiratory failure and hemodynamic instability refractory to conventional therapy, and ECLS was initiated on hospital day 2. By using "rest" ventilator settings and venovenous ECLS, the patient remained stable for a total of 6.5 days (160 hours) when he was successfully transitioned to a conventional ventilator and decannulated. The patient was discharged home on hospital day 50 on room air. ECLS aids innate lung recovery by allowing time for the diminution of high peak inspiratory pressures, prevention of barotrauma, and ultimately mitigating ventilator-induced lung injury. ECLS should be considered early as a viable supportive modality after inhalational injury in patients failing advanced ARDS management strategies. PMID:19826265

  5. Gene/Cell Therapy Approaches for Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome

    PubMed Central

    Passerini, Laura; Santoni de Sio, Francesca R.; Porteus, Matthew H.; Bacchetta, Rosa

    2014-01-01

    Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare autoimmune disease due to mutations in the gene encoding for Forkhead box P3 (FOXP3), a transcription factor fundamental for the function of thymus-derived (t) regulatory T (Treg) cells. The dysfunction of Treg cells results in the development of devastating autoimmune manifestations affecting multiple organs, eventually leading to premature death in infants, if not promptly treated by hematopoietic stem cell transplantation (HSCT). Novel gene therapy strategies can be developed for IPEX syndrome as more definitive cure than allogeneic HSCT. Here we describe the therapeutic approaches, alternative to HSCT, currently under development. We described that effector T cells can be converted in regulatory T cells by LV-mediated FOXP3-gene transfer in differentiated T lymphocytes. Despite FOXP3 mutations mainly affect a highly specific T cell subset, manipulation of stem cells could be required for long-term remission of the disease. Therefore, we believe that a more comprehensive strategy should aim at correcting FOXP3-mutated stem cells. Potentials and hurdles of both strategies will be highlighted here. PMID:25274247

  6. The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

    PubMed

    Noonan, Jacqueline A; Kappelgaard, Anne-Marie

    2015-01-01

    Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.26 SDS. Among studies reporting adult or near-adult height, GH therapy over 5-7 years resulted in adult height SDS from -0.6 to -2.1, with up to 60% of subjects in some studies achieving adult height within 1 SDS of mid-parental height. GH treatment results in an acceleration of bone age, likely reflecting normalization from the retarded bone age common in Noonan syndrome patients at the start of therapy. BMI is not affected by GH treatment, but favorable changes in fat mass and body composition are achievable. Longer-term studies and observational studies suggest a waning of the effect of GH therapy over time, as is seen in other GH-treated conditions, and early initiation of therapy and prepubertal status are important predictors of response. GH treatment does not appear to be associated with adverse cardiac or metabolic effects, and data on malignancy during GH treatment give no cause for concern, although they are limited. PMID:25503994

  7. [The use of baclosan in the complex therapy of muscle-tonic and myofascial pain syndromes in patients with dorsopathy].

    PubMed

    Batysheva, T T; Bo?ko, A N; Za?tsev, K A; Bagir', L V; Kostenko, E V

    2008-01-01

    Baclosan (baclofen), a GABA analogue, has been used in the treatment of 20 patients, aged 20-56 years, with a pain syndrome in dorsopathy of lumbar spine. Baclosan has been administered in the increasing dosages (from 10 mg to 30 mg per day) for 4 weeks in conjunction with traditional therapy (symptomatic pharmacotherapy, physiotherapy, reflexotherapy etc).The control group consisted of 10 patients who received only basic therapy (without baclosan). Patient's status has been measured clinically and with several scales. The results obtained allow to conclude that baclosan exerts a positive effect in the pain syndrome caused by dorsopathy. Its inclusion to the complex therapy reduces both the pain intensity and the degree of muscle-tonic tension as well as improves the motor function and emotional state of patients. PMID:18577932

  8. IMPACT OF CHRONIC ANTI-CHOLESTEROL THERAPY ON DEVELOPMENT OF MICROVASCULAR RAREFACTION IN THE METABOLIC SYNDROME

    PubMed Central

    Goodwill, Adam G.; Frisbee, Stephanie J.; Stapleton, Phoebe A.; James, Milinda E.; Frisbee, Jefferson C.

    2011-01-01

    Object The obese Zucker rat (OZR) model of the metabolic syndrome is partly characterized by moderate hypercholesterolemia in addition to other contributing co-morbidities. Previous results suggest that vascular dysfunction in OZR is associated with chronic reduction in vascular nitric oxide (NO) bioavailability and chronic inflammation, both frequently associated with hypercholesterolemia. As such, we evaluated the impact of chronic cholesterol reducing therapy on the development of impaired skeletal muscle arteriolar reactivity and microvessel density in OZR and its impact on chronic inflammation and NO bioavailability. Materials and Methods Beginning at 7 weeks of age, male OZR were treated with gemfibrozil, probucol, atorvastatin or simvastatin (in chow) for 10 weeks. Subsequently, plasma and vascular samples were collected for biochemical/molecular analyses, while arteriolar reactivity and microvessel network structure were assessed using established methodologies after 3, 6 and 10 weeks of drug therapy Results All interventions were equally effective at reducing total cholesterol, although only the statins also blunted the progressive reductions to vascular NO bioavailability, evidenced by greater maintenance of acetylcholine-induced dilator responses, an attenuation of adrenergic constrictor reactivity, and an improvement in agonist-induced NO production. Comparably, while minimal improvements to arteriolar wall mechanics were identified with any of the interventions, chronic statin treatment reduced the rate of microvessel rarefaction in OZR. Associated with these improvements was a striking statin-induced reduction in inflammation in OZR, such that numerous markers of inflammation were correlated with improved microvascular reactivity and density. However, using multivariate discriminant analyses, plasma RANTES, IL-10, MCP-1 and TNF-? were determined to be the strongest contributors to differences between groups, although their relative importance varied with time. Conclusions While the positive impact of chronic statin treatment on vascular outcomes in the metabolic syndrome are independent of changes to total cholesterol, and are more strongly associated with improvements to vascular NO bioavailability and attenuated inflammation, these results provide both a spatial and temporal framework for targeted investigation into mechanistic determinants of vasculopathy in the metabolic syndrome. PMID:19905967

  9. Predictors of Physical Therapy Clinic Performance in the Treatment of Patients With Low Back Pain Syndromes

    PubMed Central

    Resnik, Linda; Liu, Dawei; Mor, Vince; Hart, Dennis L

    2008-01-01

    Background and Purpose: Little is known about organizational and service delivery factors related to quality of care in physical therapy. This study sought to identify characteristics related to differences in practice outcomes and service utilization. Subjects: The sample comprised 114 outpatient clinics and 1,058 therapists who treated 16,281 patients with low back pain syndromes during the period 20002001. Clinics participated with the Focus on Therapeutic Outcomes, Inc (FOTO) database. Methods: Hierarchical linear models were used to risk adjust treatment outcomes and number of visits per treatment episode. Aggregated residual scores from these models were used to classify each clinic into 1 of 3 categories in each of 3 types of performance groups: (1) effectiveness, (2) utilization, and (3) overall performance (ie, composite measure of effectiveness and utilization). Relationships between clinic classification and the following independent variables were examined by multinomial logistic regression: years of therapist experience, number of physical therapists, ratio of physical therapists to physical therapist assistants, proportion of patients with low back pain syndromes, number of new patients per physical therapist per month, utilization of physical therapist assistants, and setting. Results: Clinics that were lower utilizers of physical therapist assistants were 6.6 times more likely to be classified into the high effectiveness group compared with the low effectiveness group, 6.7 times more likely to be classified in the low utilization group compared with the high utilization group, and 12.4 times more likely to be classified in the best performance group compared with the worst performance group. Serving a higher proportion of patients with low back pain syndromes was associated with an increased likelihood of being classified in the lowest or middle group. Years of physical therapist experience was inversely associated with being classified in the middle utilization group compared with the highest utilization group. Discussion and Conclusion: These findings suggest that, in the treatment of patients with low back pain syndromes, clinics that are low utilizers of physical therapist assistants are more likely to provide superior care (ie, better patient outcomes and lower service use). PMID:18689610

  10. Injury to the lung from cancer therapy: Clinical syndromes, measurable endpoints, and potential scoring systems

    SciTech Connect

    McDonald, S.; Rubin, P.; Phillips, T.L.

    1995-03-30

    Toxicity of the respiratory system is a common side effect and complication of anticancer therapy that can result in significant morbidity. The range of respiratory compromise can extend from acute lethal events to degrees of chronic pulmonary decompensation, manifesting years after the initial cancer therapy. This review examines the anatomic-histologic background of the lung and the normal functional anatomic unit. The pathophysiology of radiation and chemotherapy induced lung injury is discussed as well as the associated clinical syndromes. Radiation tolerance doses and volumes are assessed in addition to chemotherapy tolerance and risk factors and radiation-chemotherapy interactions. There are a variety of measurable endpoints for detection and screening. Because of the wide range of available quantitative tests, it would seem that the measurement of impaired lung function is possible. The development of staging systems for acute and late toxicity is discussed an a new staging system for Late Effects in Normal Tissues :(LENT) is proposed. 115 refs., 2 figs., 9 tabs.

  11. 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

  12. Evaluation and art therapy treatment of the burnout syndrome in oncology units.

    PubMed

    Italia, Simona; Favara-Scacco, Cinzia; Di Cataldo, Andrea; Russo, Giovanna

    2008-07-01

    We undertook a pilot study to evaluate and potentially reduce the level of burnout in the operators of two oncology centers. The study included 65 doctors and nurses of an adult (Group A) and a pediatric oncology unit (Group B). We used the Maslach Burnout Inventory to estimate the level of burnout obtained in three dimensions: emotional exhaustion, distancing (cognitive and emotional) and reduced personal achievement. Data showed a medium-high level of burnout in Group A and a medium-low level in Group B. In the second part of the study, Group B underwent a program of art therapy interventions with the aim of reducing the level of burnout. Comparing the responses from Group B participants before and after the intervention indicated a statistically significant decreased level of burnout. In conclusion, burnout syndrome exists among oncology unit personnel and can be effectively treated with art therapies. Attention devoted to this aspect is required in order to improve the workers' well-being, thus enhancing attention and dedication to patients. PMID:17992704

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

    PubMed

    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

  14. Correction of Murine BernardSoulier Syndrome by Lentivirus-mediated Gene Therapy

    PubMed Central

    Kanaji, Sachiko; Kuether, Erin L; Fahs, Scot A; Schroeder, Jocelyn A; Ware, Jerry; Montgomery, Robert R; Shi, Qizhen

    2012-01-01

    BernardSoulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib-IX-V complex. The main treatment for BSS is platelet transfusion but it is often limited to severe bleeding episodes or surgical interventions due to the risk of alloimmunization. We have previously reported successful expression of human GPIb? (hGPIb?) in human megakaryocytes using a lentiviral vector (LV) encoding human GP1BA under control of the platelet-specific integrin ?IIb promoter (2bIb?). In this study, we examined the efficacy of this strategy for the gene therapy of BSS using GPIb?null as a murine model of BSS. GPIb?null hematopoietic stem cells (HSC) transduced with 2bIb? LV were transplanted into lethally irradiated GPIb?null littermates. Therapeutic levels of hGPIb? expression were achieved that corrected the tail bleeding time and improved the macrothrombocytopenia. Sequential bone marrow (BM) transplants showed sustained expression of hGPIb? with similar phenotypic correction. Antibody response to hGPIb? was documented in 1 of 17 total recipient mice but was tolerated without any further treatment. These results demonstrate that lentivirus-mediated gene transfer can provide sustained phenotypic correction of murine BSS, indicating that this approach may be a promising strategy for gene therapy of BSS patients. PMID:22044935

  15. Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy.

    PubMed

    Kanaji, Sachiko; Kuether, Erin L; Fahs, Scot A; Schroeder, Jocelyn A; Ware, Jerry; Montgomery, Robert R; Shi, Qizhen

    2012-03-01

    Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder caused by a defect in the platelet glycoprotein (GP) Ib-IX-V complex. The main treatment for BSS is platelet transfusion but it is often limited to severe bleeding episodes or surgical interventions due to the risk of alloimmunization. We have previously reported successful expression of human GPIb? (hGPIb?) in human megakaryocytes using a lentiviral vector (LV) encoding human GP1BA under control of the platelet-specific integrin ?IIb promoter (2bIb?). In this study, we examined the efficacy of this strategy for the gene therapy of BSS using GPIb?(null) as a murine model of BSS. GPIb?(null) hematopoietic stem cells (HSC) transduced with 2bIb? LV were transplanted into lethally irradiated GPIb?(null) littermates. Therapeutic levels of hGPIb? expression were achieved that corrected the tail bleeding time and improved the macrothrombocytopenia. Sequential bone marrow (BM) transplants showed sustained expression of hGPIb? with similar phenotypic correction. Antibody response to hGPIb? was documented in 1 of 17 total recipient mice but was tolerated without any further treatment. These results demonstrate that lentivirus-mediated gene transfer can provide sustained phenotypic correction of murine BSS, indicating that this approach may be a promising strategy for gene therapy of BSS patients. PMID:22044935

  16. 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.

  17. The role of multicomponent therapy in the metabolic syndrome, inflammation and cardiovascular risk in obese adolescents.

    PubMed

    Masquio, Deborah C L; de Piano, Aline; Campos, Raquel M S; Sanches, Priscila L; Carnier, June; Corgosinho, Flvia C; Netto, Brbara D M; Carvalho-Ferreira, Joana P; Oyama, Lila M; Nascimento, Claudia M O; de Mello, Marco T; Tufik, Sergio; Dmaso, Ana R

    2015-06-28

    Obesity is characterised by low-grade inflammation, which increases the metabolic syndrome (MetS) and cardiovascular risks. The aim of the present study was to verify the role of multicomponent therapy in controlling the MetS, inflammation and carotid intima-media thickness (cIMT) in obese adolescents. The second aim was to investigate the relationships between adipokines, the MetS parameters and cIMT. A total of sixty-nine obese adolescents participated in the present study and completed 1 year of multicomponent therapy (a combination of strategies involving nutrition, psychology, physical exercise and clinical therapy), and were divided according to their MetS diagnosis as follows: MetS (n 19); non-MetS (n 50). Blood analyses of glucose, lipid and adipokine concentrations (adiponectin, leptin, plasminogen activator inhibitor 1 (PAI-1) and C-reactive protein) were collected. Insulin resistance was assessed using the homeostasis model assessment for insulin resistance, quantitative insulin sensitivity check index and homeostasis model assessment-adiponectin. cIMT and visceral and subcutaneous fat were estimated using ultrasonography. At baseline, the MetS group presented higher waist circumference, glucose and insulin levels, and systolic and median blood pressures compared with the non-MetS group. After therapy, both groups showed improvements in the anthropometric profile, body composition, insulin level, insulin resistance, insulin sensibility, TAG and VLDL-cholesterol, adiponectin, leptin and PAI-1 levels, blood pressure and cIMT. The prevalence of the MetS was reduced from 275 to 130%. Metabolic syndrome patients showed resistance in the attenuation of total cholesterol and LDL-cholesterol (LDL-C) levels and leptin:adiponectin and adiponectin:leptin ratios. In the MetS group, the variation in the adiponectin:leptin ratio was correlated with variations in glucose, insulin sensibility, total cholesterol, LDL-c and systolic blood pressure. Additionally, the number of MetS parameters was correlated with the carotid measurement. Moreover, the variation in cIMT was correlated with the variations in insulin sensibility, total cholesterol and LDL-c. For the entire group, the number of MetS alterations was correlated with the leptin level and leptin:adiponectin ratio and adiponectin:leptin ratio after therapy. In conclusion, multicomponent therapy was effective in controlling the MetS, inflammation and cIMT in the obese adolescents. However, the MetS patients showed resistance in the attenuation of the atherogenic lipid profile and leptin:adiponectin ratio and adiponectin:leptin ratio. These results suggest that the MetS patients have increased cardiovascular risks, and that it is important to attempt to control the inflammatory process that occurs due to obesity in clinical practice in order to improve the health of adolescents. PMID:25907896

  18. 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

  19. Cardiac dysfunction and oxidative stress in the metabolic syndrome: an update on antioxidant therapies.

    PubMed

    Ilkun, Olesya; Boudina, Sihem

    2013-01-01

    The metabolic syndrome (MetS) is a cluster of risk factors including obesity, insulin resistance, dyslipidemia, elevated blood pressure and glucose intolerance. The MetS increases the risk for cardiovascular disease (CVD) and type 2 diabetes. Each component of the MetS causes cardiac dysfunction and their combination carries additional risk. The mechanisms underlying cardiac dysfunction in the MetS are complex and might include lipid accumulation, increased fibrosis and stiffness, altered calcium homeostasis, abnormal autophagy, altered substrate utilization, mitochondrial dysfunction and increased oxidative stress. Mitochondrial and extra-mitochondrial sources of reactive oxygen species (ROS) and reduced antioxidant defense mechanisms characterize the myocardium of humans and animals with the MetS. The mechanisms for increased cardiac oxidative stress in the MetS are not fully understood but include increased fatty acid oxidation, mitochondrial dysfunction and enhanced NADPH oxidase activity. Therapies aimed to reduce oxidative stress and enhance antioxidant defense have been employed to reduce cardiac dysfunction in the MetS in animals. In contrast, large scale clinical trials using antioxidants therapies for the treatment of CVD have been disappointing because of the lack of efficacy and undesired side effects. The focus of this review is to summarize the current knowledge about the mechanisms underlying cardiac dysfunction in the MetS with a special interest in the role of oxidative stress. Finally, we will update the reader on the results obtained with natural antioxidant and mitochondria-targeted antioxidant therapies for the treatment of CVD in the MetS. PMID:23323621

  20. 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

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

    PubMed

    Isert, Mecki; Miesbach, Wolfgang; Schttfort, 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 4.5s, 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

  2. Cardiac Dysfunction and Oxidative Stress in the Metabolic Syndrome: an Update on Antioxidant Therapies

    PubMed Central

    Ilkun, Olesya; Boudina, Sihem

    2013-01-01

    The metabolic syndrome (MetS) is a cluster of risk factors including obesity, insulin resistance, dyslipidemia, elevated blood pressure and glucose intolerance. The MetS increases the risk for cardiovascular disease (CVD) and type 2 diabetes. Each component of the MetS causes cardiac dysfunction and their combination carries additional risk. The mechanisms underlying cardiac dysfunction in the MetS are complex and might include lipid accumulation, increased fibrosis and stiffness, altered calcium homeostasis, abnormal autophagy, altered substrate utilization, mitochondrial dysfunction and increased oxidative stress. Mitochondrial and extra-mitochondrial sources of reactive oxygen species (ROS) and reduced antioxidant defense mechanisms characterize the myocardium of humans and animals with the MetS. The mechanisms for increased cardiac oxidative stress in the MetS are not fully understood but include increased fatty acid oxidation, mitochondrial dysfunction and enhanced NADPH oxidase activity. Therapies aimed to reduce oxidative stress and enhance antioxidant defense have been employed to reduce cardiac dysfunction in the MetS in animals. In contrast, large scale clinical trials using antioxidants therapies for the treatment of CVD have been disappointing because of the lack of efficacy and undesired side effects. The focus of this review is to summarize the current knowledge about the mechanisms underlying cardiac dysfunction in the MetS with a special interest in the role of oxidative stress. Finally, we will update the reader on the results obtained with natural antioxidant and mitochondria-targeted antioxidant therapies for the treatment of CVD in the MetS. PMID:23323621

  3. 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

  4. 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 (204.265.7 vs 254.972 ?mol/L, p<0.001) and lipid peroxidation levels (13.16.2 vs 8.43.1 ?mol/L, p<0.01).There was a significant decrease in both systolic (132.116.1 vs 127.214.3 mmHg, p<0.01) and diastolic blood pressure (86.49.4 vs 81.29.8 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

  5. Forearm Compartment Syndrome following Thrombolytic Therapy for Massive Pulmonary Embolism: A Case Report and Review of Literature

    PubMed Central

    Badge, Ravi; Hemmady, Mukesh

    2011-01-01

    Use of thrombolytic therapy in pulmonary embolism is restricted in cases of massive embolism. It achieves faster lysis of the thrombus than the conventional heparin therapy thus reducing the morbidity and mortality associated with PE. The compartment syndrome is a well-documented, potentially lethal complication of thrombolytic therapy and known to occur in the limbs involved for vascular lines or venepunctures. The compartment syndrome in a conscious and well-oriented patient is mainly diagnosed on clinical ground with its classical signs and symptoms like disproportionate pain, tense swollen limb and pain on passive stretch. However these findings may not be appropriately assessed in an unconscious patient and therefore the clinicians should have high index of suspicion in a patient with an acutely swollen tense limb. In such scenarios a prompt orthopaedic opinion should be considered. In this report, we present a case of acute compartment syndrome of the right forearm in a 78 years old male patient following repeated attempts to secure an arterial line for initiating the thrombolytic therapy for the management of massive pulmonary embolism. The patient underwent urgent surgical decompression of the forearm compartments and thus managed to save his limb. PMID:23198222

  6. 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

  7. Frequency of impulse control behaviours associated with dopaminergic therapy in restless legs syndrome

    PubMed Central

    2011-01-01

    Background Low doses of dopamine agonists (DA) and levodopa are effective in the treatment of restless legs syndrome (RLS). A range of impulse control and compulsive behaviours (ICBs) have been reported following the use of DAs and levodopa in patients with Parkinson's disease. With this study we sought to assess the cross-sectional prevalence of impulse control behaviours (ICBs) in restless legs syndrome (RLS) and to determine factors associated with ICBs in a population cohort in Germany. Methods Several questionnaires based on validated and previously used instruments for assessment of ICBs were mailed out to patients being treated for RLS. Final diagnoses of ICBs were based on stringent diagnostic criteria after psychiatric interviews were performed. Results 10/140 RLS patients of a clinical cohort (7.1%) were finally diagnosed with ICBs, 8 of 10 on dopamine agonist (DA) therapy, 2 of 10 on levodopa. 8 of the 10 affected patients showed more than one type of abnormal behaviour. Among those who responded to the questionnaires 6/140 [4.3%] revealed binge eating, 5/140 [3.6%] compulsive shopping, 3/140 [2.1%] pathological gambling, 3/140 [2.1%] punding, and 2/140 [1.4%] hypersexuality in psychiatric assessments. Among those who did not respond to questionnaires, 32 were randomly selected and interviewed: only 1 patient showed positive criteria of ICBs with compulsive shopping and binge eating. ICBs were associated with higher DA dose (p = 0.001), younger RLS onset (p = 0.04), history of experimental drug use (p = 0.002), female gender (p = 0.04) and a family history of gambling disorders (p = 0.02), which accounted for 52% of the risk variance. Conclusion RLS patients treated with dopaminergic agents and dopamine agonists in particular, should be forewarned of potential side effects. A careful history of risk factors should be taken. PMID:21955669

  8. Complementary and alternative medicine and mind-body therapies for treatment of irritable bowel syndrome in women.

    PubMed

    Magge, Suma S; Wolf, Jacqueline L

    2013-11-01

    Irritable bowel syndrome (IBS) is a common gastrointestinal disorder, characterized by chronic or recurrent abdominal pain with constipation, diarrhea and/or an alternation of the two, and often bloating. Complementary and alternative medicine (CAM) consists of a group of medical treatments that are not commonly considered to be a part of traditional medicine. CAM is commonly used for difficult-to-treat chronic medical conditions. Many patients choose CAM because there are only a limited number of treatments available for IBS or because they would like to have a 'natural therapy'. Mind-body therapies for IBS have proven efficacy, but have not been well accepted by patients or practitioners for treatment. This article reviews the use of CAM and mind-body therapies in IBS, with a focus on probiotics, acupuncture, herbal medicines and psychological therapies. PMID:24161308

  9. Hepatorenal syndrome and type 1 and 2 cardiorenal syndromes: distinct competing medical therapies applied to a similar background of vasomotor reactive nephropathy.

    PubMed

    De Vecchis, R; Esposito, C; Di Biase, G; Ariano, C

    2014-02-01

    The authors summarize some current views regarding the pharmacologic therapies of hepatorenal and cardiorenal syndromes, respectively. A common pathogenetic background of the two edematous disorders is outlined, consisting in reduced effective blood arterial volume ‑ due to the splanchnic vasodilation in the hepatorenal syndrome (HRS) and to the fall in cardiac output and the rise in central venous pressure in cardiorenal syndrome (CRS). In both diseases, arterial underfilling elicits multiple water- and sodium- retentive mechanisms, by activating sympathetic nervous system and stimulating both rennin-angiotensin-aldosterone and vasopressin systems. These neurohormonal adjustments subsequently concur to a vasomotor nephropathy which originates - as a same kind of vasoconstrictor reflex renal response ‑ from the splanchnic vasodilation, in the case of liver cirrhosis, or from the fall in renal perfusion and filtration gradients in the case of cardiorenal syndrome. Despite these pathogenetic similarities, the renal insufficiency of HRS compared to that of CRS is treated using diametrically opposite approaches: actually withdrawal of diuretics and administration of vasoconstrictor agents is the first choice in the case of HRS, while CRS is tackled by forcing diuretic regimen and by continuing vasodilator treatment with ACE-inhibitors. The pros and cons of these strategies ‑ which are still matter of debate among the physicians and researchers ‑ are then succinctly presented and discussed. PMID:24500221

  10. The effectiveness of low laser therapy in subacromial impingement syndrome: a randomized placebo controlled double‐blind prospective study

    PubMed Central

    Dogan, Sebnem Koldas; AY, Saime; Evcik, Deniz

    2010-01-01

    OBJECTIVES: Conflicting results were reported about the effectiveness of Low level laser therapy on musculoskeletal disorders. The aim of this study was to investigate the effectiveness of 850‐nm gallium arsenide aluminum (Ga‐As‐Al) laser therapy on pain, range of motion and disability in subacromial impingement syndrome. METHODS: A total of 52 patients (33 females and 19 males with a mean age of 53.59±11.34 years) with subacromial impingement syndrome were included. The patients were randomly assigned into two groups. Group I (n = 30, laser group) received laser therapy (5 joule/cm2 at each point over maximum 5‐6 painful points for 1 minute). Group II (n = 22, placebo laser group) received placebo laser therapy. Initially cold pack (10 minutes) was applied to all of the patients. Also patients were given an exercise program including range of motion, stretching and progressive resistive exercises. The therapy program was applied 5 times a week for 14 sessions. Pain severity was assessed by using visual analogue scale. Range of motion was measured by goniometer. Disability was evaluated by using Shoulder Pain and Disability Index. RESULTS: In group I, statistically significant improvements in pain severity, range of motion except internal and external rotation and SPADI scores were observed compared to baseline scores after the therapy (p<0.05). In Group II, all parameters except range of motion of external rotation were improved (p<0.05). However, no significant differences were recorded between the groups (p>0.05). CONCLUSIONS: The Low level laser therapy seems to have no superiority over placebo laser therapy in reducing pain severity, range of motion and functional disability. PMID:21120304

  11. Comparison of efficacy of kinesiological taping and subacromial injection therapy in subacromial impingement syndrome.

    PubMed

    Subaşı, Volkan; Çakır, Tuncay; Arıca, Zuhal; Sarıer, Rahime Nur; Bilgilisoy Filiz, Meral; Koldaş Doğan, Şebnem; Toraman, Naciye Füsun

    2016-03-01

    The aim of the study was to compare the efficacy of kinesiological taping and subacromial injection therapy in patients with subacromial impingement syndrome (SIS). Seventy patients diagnosed with SIS were randomly assigned to group 1 (n = 35, injection group) or group 2 (n = 35, kinesiological taping group). Betamethasone plus prilocaine was injected to subacromial space in the patients in group 1. In group 2, tape was applied three times for a period of five consecutive days with a 2-day recovery interval. A 3-month exercise program was prescribed for both groups including stretching and strengthening exercises. All patients were assessed at baseline and at 1 and 3 months post-intervention. Assessments were made by visual analog scale (VAS) for pain, range of motion (ROM) measurements, specific tests, and Shoulder Pain and Disability Index (SPADI). Significant differences were detected in VAS and SPADI scores as well as ROM measurements in both groups when compared to baseline (p > 0.05). No significant differences were detected between the groups except for active flexion degree in favor of group 1 (p = 0.004). Both kinesiological taping and steroid injection in conjunction with an exercise program were found to be effective in the treatment of SIS. Kinesio taping may be an alternative treatment option in the rehabilitation of SIS especially when a non-invasive technique is needed. PMID:25403253

  12. Risk factors for immune reconstitution inflammatory syndrome under combination antiretroviral therapy can be aetiology-specific.

    PubMed

    Espinosa, E; Ormsby, C E; Vega-Barrientos, R S; Ruiz-Cruz, M; Moreno-Coutio, G; Pea-Jimnez, A; Peralta-Prado, A B; Cantoral-Daz, M; Romero-Rodrguez, D P; Reyes-Tern, G

    2010-08-01

    In order to discriminate general from aetiology-specific risk factors for immune reconstitution inflammatory syndrome (IRIS), we followed up, during six months, 99 patients with advanced HIV infection commencing antiretroviral therapy (ART) without active opportunistic infections or evident inflammation. IRIS predictors were determined by univariate analysis using clinical data from 76 ART-responding patients either completing follow-up or developing IRIS, and by multivariate analysis of inflammation, disease progression and nutrition status variables. We identified 23 primary IRIS events (30.3%). Univariate predictors for all IRIS events were higher platelet counts and lower CD4/CD8 ratio, whereas subclinical inflammation was the multivariate predictor. Platelets, alkaline phosphatase levels and %CD8 T-cells in univariate analysis also predicted mycobacteria-associated IRIS independently, remaining elevated during follow-up. Herpesvirus IRIS was predicted by platelets and inflammation. Indicators of advanced HIV disease and subclinical inflammation jointly predict IRIS, and some are specific of the underlying microbial aetiology, possibly explaining previous reports. PMID:20975091

  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. [Anesthetic management for electroconvulsive therapy in the patients with a history of neuroleptic malignant syndrome].

    PubMed

    Setoyama, Keiko; Hirata, Takao; Saeki, Hitoshi; Morimoto, Yasuhiro; Tsuruta, Syunsuke; Matsumoto, Mishiya; Sakabe, Takefumi

    2009-05-01

    We report three patients with a history of neuroleptic malignant syndrome for whom modified electroconvulsive therapy (m-ECT) was scheduled. Two patients suffered from schizophrenia, and one suffered from depression. Their symptoms, such as hyperthermia, consciousness disturbance, myotonus, tremor, sweating, and tachycardia, improved gradually with administration of dantrolene and fluid infusion. However, their psychotic state was exacerbated. Therefore, m-ECT was scheduled. When patients were restless at the hospital ward, they were sedated with propofol and transferred to the operating room. General anesthesia was induced with thiopental 2.5-5 mg x kg(-1). After loss of consciousness, vecuronium bromide 0.01 mg x kg(-1) followed by a dose of 0.1 mg x kg(-1) was administered and ventilation was assisted using a face mask and 100% oxygen. After the ECT stimulus, the patients were sedated with propofol until full recovery from muscle relaxation. Although anesthesia time (mean 38 min) was slightly longer (19 min) than in those anesthetized with thiopental and suxamethonium chloride, m-ECT was performed safely and effectively. PMID:19462806

  15. Advances in pathogenesis and therapy of hemolytic uremic syndrome caused by Shiga toxin-2.

    PubMed

    Ibarra, Cristina; Amaral, Mara Marta; Palermo, Marina S

    2013-10-01

    Shiga toxin (Stx) producing Escherichia coli (STEC) is responsible to bloody diarrhea (hemorrhagic colitis) and the hemolytic uremic syndrome (HUS). STEC strains carry inducible lambda phages integrated into their genomes that encode Stx 1 and/or 2, with several allelic variants each one. O157:H7 is the serotype that was documented in the vast majority of HUS cases although non-O157 serotypes have been increasingly reported to account for HUS cases. However, the outbreak that occurred in central Europe during late spring of 2011 showed that the pathogen was E. coli O104:H4. More than 4,000 persons were infected mainly in Germany, and it produced more than 900 cases of HUS resulting in 54 deaths. E. coli O104:H4 is a hybrid organism that combines some of the virulence genes of STEC and enteroaggregative E. coli specially production of Stx2 and the adherence mechanisms to intestinal epithelium. The differences in the epidemiology and presentation of E. coli pathogen meant a challenge for public health and scientific research to increase the knowledge of HUS-pathophysiology and to improve available therapies to treat HUS. PMID:24014500

  16. Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients

    PubMed Central

    Pala, Francesca; Morbach, Henner; Castiello, Maria Carmina; Schickel, Jean-Nicolas; Scaramuzza, Samantha; Chamberlain, Nicolas; Cassani, Barbara; Glauzy, Salome; Romberg, Neil; Candotti, Fabio; Aiuti, Alessandro; Bosticardo, Marita; Villa, Anna; Meffre, Eric

    2015-01-01

    Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and high susceptibility to developing tumors and autoimmunity. Recent evidence suggests that B cells may be key players in the pathogenesis of autoimmunity in WAS. Here, we assessed whether WAS protein deficiency (WASp deficiency) affects the establishment of B cell tolerance by testing the reactivity of recombinant antibodies isolated from single B cells from 4 WAS patients before and after gene therapy (GT). We found that pre-GT WASp-deficient B cells were hyperreactive to B cell receptor stimulation (BCR stimulation). This hyperreactivity correlated with decreased frequency of autoreactive new emigrant/transitional B cells exiting the BM, indicating that the BCR signaling threshold plays a major role in the regulation of central B cell tolerance. In contrast, mature naive B cells from WAS patients were enriched in self-reactive clones, revealing that peripheral B cell tolerance checkpoint dysfunction is associated with impaired suppressive function of WAS regulatory T cells. The introduction of functional WASp by GT corrected the alterations of both central and peripheral B cell tolerance checkpoints. We conclude that WASp plays an important role in the establishment and maintenance of B cell tolerance in humans and that restoration of WASp by GT is able to restore B cell tolerance in WAS patients. PMID:26368308

  17. [Intravenous immunoglobulin therapy in Morvan syndrome secondary to recurrent thymic carcinoma].

    PubMed

    Horta Baas, Gabriel

    2015-01-01

    Morvan's syndrome is a rare autoimmune channelopathy. A case of Morvan's syndrome is presented as a paraneoplastic syndrome associated to the recurrence of a well-differentiated thymic carcinoma, which showed a good clinical response to treatment with intravenous immunoglobulin. PMID:26639057

  18. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    PubMed

    Grgić, Vjekoslav

    2013-01-01

    The term 'piriformis syndrome' (PS), introduced by Robinson in 1947, implies a group of signs and symptoms caused by piriformis muscle (PM) disorders. Since PM disorders lead to irritation/compression of the anatomic structures passing under its belly, the main clinical PS signs and symptoms are actually the clinical signs and symptoms of irritation/ compression of neural and vascular structures passing through the infrapiriform foramen: sciatic nerve/SN, inferior gluteal nerve, posterior femoral cutaneous nerve, pudendal nerve, inferior gluteal artery and vein and inferior pudendal artery and vein. The clinical picture is usually dominated by signs and symptoms of irritation/compression of SN (SN irritation --> low back and buttock pain, sciatica,paresthesias in distribution of SN; SN compression --> low back and buttock pain,sciatica, paresthesias and neurologic deficit in distribution of SN). Irritation/compression of other structures can result in the following signs and symptoms: inferior gluteal nerve --> atrophy of gluteal muscles; posterior femoral cutaneous nerve --> pain, paresthesias and sensory disturbances in the posterior thigh; pudendal nerve --> pudendal neuralgia, painful sexual intercourse (dyspareunia), sexual dysfunction, urination and defecation problems; inferior gluteal artery --> ischemic buttock pain; inferior pudendal artery --> ischemic pain in the area of external sex organs, perineum and rectum, sexual dysfunction, urination and defecation problems; inferior gluteal vein --> venous stasis in gluteal area; inferior pudendal vein --> venous stasis in external sex organs and rectum. Functional/non-organic and organic PM disorders can cause PS: spasm, shortening, hypertrophy, anatomic variations, edema, fibrosis, adhesions, hematoma, atrophy, cyst, bursitis, abscess, myositis ossificans, endometriosis, tumors (functional disorders: PM spasm and shortening). The most common causes for PS are PM spasm, shortening and hypertrophy and anatomic variations of PM and SN. In 5-6% of patients with low back pain and/or unilateral sciatica, the pain is caused by PM disorders. PS diagnosis can be made on the basis of anamnesis, clinical picture, clinical examination, EMNG, perisciatic anesthetic block of PM and radiological exams (pelvis/PM MRI; MR neurography of LS plexus and SN). PS therapy includes medicamentous therapy, physical therapy, kynesitherapy, acupuncture, therapeutic perisciatic blocks, botulinum toxin injections and surgical treatment (tenotomy of PM, neurolysis of SN). PMID:23607175

  19. Risk factors for therapy-related myelodysplastic syndrome and acute myeloid leukemia treated with allogeneic stem cell transplantation

    PubMed Central

    Krger, Nicolaus; Brand, Ronald; van Biezen, Anja; Zander, Axel; Dierlamm, Judith; Niederwieser, Dietger; Devergie, Agns; Ruutu, Tapani; Cornish, Jackie; Ljungman, Per; Gratwohl, Alois; Cordonnier, Catherine; Beelen, Dietrich; Deconinck, Eric; Symeonidis, Argiris; de Witte, Theo

    2009-01-01

    Background After successful treatment of malignant diseases, therapy-related myelodysplastic syndrome and acute myeloid leukemia have emerged as significant problems. Design and Methods The aim of this study was to investigate outcome and risk factors in patients with therapy-related myelodysplastic syndrome or acute myeloid leukemia who underwent allogeneic stem cell transplantation. Between 1981 and 2006, 461 patients with therapy-related myelodysplastic syndrome or acute myeloid, a median age of 40 years and a history of solid tumor (n=163), malignant lymphoma (n=133), or other hematologic diseases (n=57) underwent stem cell transplantation and their data were reported to the European Group for Blood and Marrow Transplantation. Results The cumulative incidence of non-relapse mortality and relapse at 3 years was 37% and 31%, respectively. In a multivariate analysis significant factors for relapse were not being in complete remission at the time of transplantation (p=0.002), abnormal cytogenetics (p=0.005), higher patients age (p=0.03) and therapy-related myelodysplastic syndrome (p=0.04), while higher non-relapse mortality was influenced by higher patients age. Furthermore, there was a marked reduction in non-relapse mortality per calendar year during the study period (p<0.001). The 3-year relapse-free and overall survival rates were 33% and 35%, respectively. In a multivariate analysis significant higher overall survival rates were seen per calendar year (p<0.001), for younger age (<40 years) and normal cytogenetics (p=0.05). Using age (<40 years), abnormal cytogenetics and not being in complete remission at the time of transplantation as risk factors, three different risk groups with overall survival rates of 62%, 33% and 24% could be easily distinguished. Conclusions Allogeneic stem cell transplantation can cure patients with therapy-related myelodysplastic syndrome and acute myeloid leukemia and has markedly improved over time. Non-complete remission, abnormal cytogenetics and higher patients age are the most significant factors predicting survival. PMID:19278968

  20. 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

  1. 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

  2. Rituximab Therapy for Primary Sjgrens 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 Sjgrens syndrome, as well as investigate its mechanisms. Methods Patients with primary Sjgrens 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 Sjgrens syndrome were administered rituximab. They had a median (range) age of 51 (3469) years and a median (range) disease duration of 8.0 (218) 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 Sjgrens 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

  3. 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

  4. 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; Mricke, Anja; Bienemann, Kirsten; Mauz-Krholz, Christine; Escherich, Gabriele; Zimmermann, Martin; Krholz, 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-Mnster (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 37 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

  5. 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

  6. [Efficacy of alcohol withdrawal syndrome therapy in patients from Independent Public Hospital for Mental Diseases in Miedzyrzecz].

    PubMed

    Szymański, Michal; Korzeniowska, Katarzyna; Jabłecka, Anna

    2015-01-01

    Consumption of alcohol is a serious social problem. Research on alcohol addicts prove that its consumption affects the physical and mental health of drinking person, his/her family and the social dimension (eg. crime, unemployment, poverty). The aim of this study was to evaluate the effectiveness of the treatment of alcohol withdrawal syndrome (AW) in patients of 2417 Unit of Treatment of Alcohol Withdrawal Syndromes of Independent Public Hospital for Mental Diseases (SPSNPCH) in Miedzyrzecz. The study was conducted in 122 of 24/7 Unit of Treatment of Alcohol Withdrawal Syndromes (SPSNPCH) treated from January to March 2015. Patients during hospitalization were subjected to intensive pharmacotherapy of AW (Stage I) and cognitive-behavioral therapy (Stage II). Of the group of 122 people starting treatment Stage I was completed by 112 patients (90%); 10 patients (8%) have been discharged at their own request. The participation in Stage II was consented only by 54 patients, of which 6 (4%) withdrew from this form of therapy. Full two-stage treatment consisting of pharmacotherapy of AWS and then psychotherapy was completed only by 48 (39%) patients. PMID:26946557

  7. Metabolic Syndrome and Elevated C-Reactive Protein in Breast Cancer Survivors on Adjuvant Hormone Therapy

    PubMed Central

    Thompson, Patricia A.; Wright-Bea, Jennifer; Nardi, Emily; Frey, Georgette R.; Stopeck, Alison

    2009-01-01

    Abstract Aims As the efficacy of treatment for breast cancer has improved, particularly with the use of antiestrogenic therapies, there is an increasing population of long-term breast cancer survivors who seeks care with unique health issues. These patients may be at increased risk for cardiovascular disease (CVD) resulting from excess adiposity and treatment effects. Metabolic syndrome (MetS) and elevated C-reactive protein (CRP), two predictors of CVD, have not been fully evaluated in overweight breast cancer survivors on hormone-modulating agents. Methods Anthropometric measures, including weight, height, waist and hip circumferences; clinical laboratory assessments, including lipids, glucose, glycoslyated hemoglobin (HbA1c), insulin, and high sensitivity CRP; and body composition and blood pressure (BP) were collected from overweight breast cancer survivors (n?=?42). Select measures were used to derive MetS using the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) diagnostic criteria. Results Participants had a mean body weight of 83.8?kg and body mass index (BMI) of 31.4?kg/m2. Mean fasting glucose (98??12.9?mg/dL), HbA1c (6.0??0.5?mg/dL), cholesterol (199??33.7?mg/dL), and insulin (16?13.2?mg/dL) were all at the upper end of the normal range. MetS was diagnosed in 54.8% of overweight postmenopausal breast cancer survivors. CRP was moderately or severely elevated in 90.5% of the population (mean of 5.1??5.3?mg/dL). Conclusions In our sample, overweight breast cancer survivors commonly have MetS and elevated CRP that place them at increased risk for cardiovascular and other metabolic diseases. If replicated in a larger sample, this warrants close medical monitoring to prevent and reduce morbidity and mortality unrelated to breast cancer. PMID:20044868

  8. Targeted therapy of short-bowel syndrome with teduglutide: the new kid on the block

    PubMed Central

    Vipperla, Kishore; O’Keefe, Stephen J

    2014-01-01

    Extensive intestinal resection impairs the absorptive capacity and results in short-bowel syndrome-associated intestinal failure (SBS-IF), when fluid, electrolyte, acid-base, micro-, and macronutrient homeostasis cannot be maintained on a conventional oral diet. Several factors, including the length and site of the resected intestine, anatomical conformation of the remnant bowel, and the degree of postresection intestinal adaptation determine the disease severity. While mild SBS patients achieve nutritional autonomy with dietary modification (eg, hyperphagia, small frequent meals, and oral rehydration fluids), those with moderate-to-severe disease may develop SBS-IF and become dependent on parenteral support (PS) in the form of intravenous fluids and/or nutrition for sustenance of life. SBS-IF is a chronic debilitating disease associated with a poor quality of life, and carries significant morbidity and health care costs. Medical management of SBS-IF is primarily focused on individually tailored symptomatic treatment strategies, such as antisecretory and antidiarrheal agents to mitigate fluid losses, and PS. However, PS administration is associated with potentially life-threatening complications, such as central venous thromboses, bloodstream infections, and liver disease. In pursuit of a targeted therapy to augment intestinal adaptation, research over the past 2 decades has identified glucagon-like peptide, an intestinotrophic gut peptide that has been shown to enhance intestinal absorptive capacity by causing an increase in the villus length, crypt depth, and mesenteric blood flow and by decreasing gastrointestinal motility and secretions. Teduglutide, a recombinant analog of glucagon-like peptide-2, is the first targeted therapeutic agent to gain approval for use in adult SBS-IF. Teduglutide was shown to result in significant (20%–100%) reduction in PS-volume requirement and have a satisfactory safety profile in three randomized control trials. Further research is warranted to see if reduction in PS dependency translates to improved quality of life and reduced PS-associated complications. PMID:25525380

  9. Antioxidant therapy improves non-thyroidal illness syndrome in uremic rats.

    PubMed

    Yang, Pingping; Li, Yun; Xu, Gaosi

    2016-05-01

    Background The roles of antioxidant therapy on non-thyroidal illness syndrome (NTIS) in uremic rats is still unclear. Materials and methods Twenty-four Sprague-Dawley (SD) rats were randomly divided into blank, 5/6 nephrectomy (Nx), pyrrolidine dithiocarbamate (PDTC, 10 mg/100 g), sodium bicarbonate (SB, 0.1 g/100 g), N-acetylcysteine (NAC, 80 mg/100 g) and thyroid hormones (TH, levothyroxine 2 μg/100 g) groups. The serum levels of malondialdehyde (MDA), superoxide dismutase (SOD), advanced oxidation protein products (AOPP), interleukin (IL)-1β, free triiodothyronine (FT3), and thyroid stimulating hormone (TSH) were detected in the sixth week. The expressions of IL-1β and deiodinase type 1 (DIO1) were assessed by western blotting. The nuclear factor kappa B (NF-κB) inflammatory signal pathway was confirmed by electrophoretic mobility shift assay (EMSA). Results Compared with 5/6 Nx group, PDTC and NAC significantly reduced the levels (p < 0.01, respectively) of serum MDA, AOPP, TSH, and elevated levels of serum SOD (p < 0.01, respectively) and FT3 (p = 0.016 and p < 0.01). Neither had significant effects on serum IL-1β content (p = 0.612 and p = 0.582). PDTC and NAC markedly decreased the protein expression of IL-1β (p < 0.01) and increased the protein expression of DIO1 (p < 0.01), respectively. Both had been considerably blunted NF-κB activity (p < 0.01). Conclusions In uremic rat model, PDTC and NAC can effectively improve oxidative stress level and NTIS. In terms of improving oxidative stress level, NAC is probably superior to PDTC. PMID:26895214

  10. 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-1β and TNF-α) 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-α and IL-1β 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

  11. [Acquired immunodeficiency syndrome-associated progressive multifocal leukoencephalopathy treated with highly active anti-retroviral therapy].

    PubMed

    Shimizu, Y; Ota, K; Takeuchi, M; Iwata, M; Yogo, Y

    2000-08-01

    We reported a patient with acquired immunodeficiency syndrome (AIDS)-associated progressive multifocal leukoencephalopathy (AIDS-PML), whose condition improved after highly active anti-retroviral therapy (HAART). A 70-year-old man was admitted to our hospital because of worsening left hemiplegia and disturbance of consciousness. During the past 30 years, he frequently traveled to the United States and southeast Asia. On neurological examination, he was somnolent and left hemiplegia with severe rigospasticity was present. The deep tendon reflexes showed hyper-reflexes with extensor plantar responses. Laboratory studies showed pancytopenia and positive HIV-1 antibodies. The CD4 cell count was 38/mm3 and his HIV viral RNA load in the blood was 9,500 copies/ml. T2-weighted magnetic resonance imaging (MRI) of the brain revealed asymmetrical high intensity white matter lesions in the right fronto-parietal, and left frontal regions and in the cerebellar hemisphere. The cerebrospinal fluid (CSF) protein elevated to 91 mg/dl with a normal cell count. The diagnosis of PML was confirmed by the detection of JC virus DNA in the CSF using a nested polymerase chain reaction assay. Three weeks after starting HAART with zidovudine, lamivudine, and indinavir, he was able to respond to simple commands. Two months later, the HIV viral RNA load decreased to less than 400 copies/mm3, and no JC virus DNA was detected in the CSF, with an increase of the CD4 cell count to 285/mm3 in the blood. A follow-up MRI of the brain showed a reduction in the cerebellar and cerebral white matter lesions. The recovering immune function by decreasing of the HIV load after HAART might suppress JC virus replication. It was suggested that HAART would become a beneficial treatment for patients with AIDS-PML. PMID:11218704

  12. The prevalence and correlates of mind-body therapy practices in patients with acute coronary syndrome

    PubMed Central

    Leung, Yvonne W.; Tamim, Hala; Stewart, Donna E.; Arthur, Heather M.; Grace, Sherry L.

    2010-01-01

    Summary Objectives While the benefits of mind-body therapy (MBT) for cardiac secondary prevention continues to be investigated, the prevalence of such practices by cardiac patients is not well known. The aim of this study was to quantitatively examine the prevalence of MBT practice and its sociodemographic, clinical, psychosocial and behavioral correlates among patients with acute coronary syndrome (ACS). Methods Six hundred and sixty-one ACS in-patients (75% response rate) recruited from three hospitals completed a demographic survey, and clinical data were extracted from charts. Four hundred and sixty five patients (81% retention rate; 110 (23.7%) female) responded to an 18-month post-discharge survey that queried about MBT use and its correlates. Results One hundred and sixty-three (35.1%) ACS patients practised MBT in their lifetime, and 118 (25.4%) were currently practising. MBT users were more often women (OR = 2.98), non-white (OR = 2.17), had higher levels of education (OR = 2.22), past smokers (OR = 3.33), reported poorer mental health (OR =2.15), and engaged in more exercise (OR = 1.65). Conclusion One-third of ACS patients practised some form of MBT. The greater MBT practice among female ACS patients is noteworthy, given their generally lower physical activity and lower receipt of evidence-based treatments including cardiac rehabilitation. In addition, there is some evidence that MBT can promote mental well-being, and thus such practice might reduce risk related to negative affect in cardiac patients. PMID:19186341

  13. Monitoring of oral anticoagulant therapy in lupus anticoagulant positive patients with the anti-phospholipid syndrome.

    PubMed

    Lawrie, A S; Purdy, G; Mackie, I J; Machin, S J

    1997-09-01

    Introduction of the International Normalized Ratio (INR) has improved the standardization of laboratory control of oral anticoagulant therapy (OAT). However, it has been reported that misleading INR results can be obtained from OAT patients with lupus anticoagulant (LA). To investigate this claim, we studied 35 OAT patients, 14 of whom had anti-phospholipid syndrome (APS) with a documented LA. Attainment of anticoagulation was confirmed by chromogenic assay of factor VII and factor X. Prothrombin times were performed using eight thromboplastins (five derived from rabbit brain, two recombinant human tissue factor and one made from human placenta) with an International Sensitivity Index (ISI) of <1.40. When using the thromboplastin manufacturers' ISI there was a significant difference (ANOVA, P<0.0001) between INR results obtained with the eight reagents for both APS (average CV = 12.4%) and non-APS (average CV = 12.5%) patient groups. Variation using the eight thromboplastins was assessed by calculating the CV for each sample; these values were then pooled for each patient group to give the average CV for all samples with all reagents for the two patient groups. Results for both patient groups exhibited markedly reduced variation (APS group average CV = 6.5%, non-APS group average CV = 5.8%) when locally assigned ISI values were employed in the calculation of INRs. Our data does not support the suggestion that the INR may not reflect the true level of anticoagulation in the long-term warfarin-treated patient, in whom lupus anticoagulant was detected. However, there was strong evidence that thromboplastin use should be restricted to those clot detection systems for which the reagent's manufacturer has assigned an ISI, or local ISI assignment must be undertaken. The inappropriate use of a generic (i.e. optical or mechanical clot detection system without regard to specific analyser type) ISI value can lead to ambiguous results. PMID:9326184

  14. Optimizing therapy for iron overload in the myelodysplastic syndromes: recent developments.

    PubMed

    Leitch, Heather A

    2011-01-22

    The myelodysplastic syndromes (MDS) are characterized by cytopenias and risk of progression to acute myeloid leukaemia (AML). Most MDS patients eventually require transfusion of red blood cells for anaemia, placing them at risk of transfusional iron overload. In β-thalassaemia major, transfusional iron overload leads to organ dysfunction and death; however, with iron chelation therapy, organ function is improved, and survival improved to near normal and correlated with the degree of compliance with chelation. In lower-risk MDS, several nonrandomized studies suggest an adverse effect of iron overload on survival and that lowering iron with chelation may minimize this impact. Emerging data indicate that chelation may improve organ function, particularly hepatic function, and a minority of patients may have improvement in cell counts and decreased transfusion requirements. While guidelines for MDS generally recommend chelation in selected lower-risk patients, data from nonrandomized trials suggest iron overload may impact adversely on the outcome of higher-risk MDS and stem cell transplantation (SCT). This effect may be due to increased transplant-related mortality, infection and AML progression, and preliminary data suggest that lowering iron may be beneficial in this patient group. Other areas of active and future investigation include optimizing the monitoring of iron overload using imaging such as T2* MRI and measures of labile iron and oxidative stress; correlating new methods of measuring iron to clinical outcomes; clarifying the contribution of different cellular and extracellular iron pools to iron toxicity; optimizing chelation by using agents that access the appropriate iron pools to minimize the relevant clinical consequences in individual patients; and incorporating measures of quality of life and co-morbidities into clinical trials of chelation in MDS. It should be noted that chelation is costly and potentially toxic, and in MDS should be initiated after weighing potential risks and benefits for each patient until more definitive data are available. In this review, data on the impact of iron overload in MDS and SCT are discussed; for example, several noncontrolled studies show inferior survival in patients with iron overload in these clinical settings, including an increase in transplant-related mortality and infection risk. Possible mechanisms of iron toxicity include oxidative stress, which can damage cellular components, and the documented impact of lowering iron on organ function with measures such as iron chelation therapy includes an improvement in elevated liver transaminases. Lowering iron also appears to improve survival in both lower-risk MDS and SCT in nonrandomized studies. Selected aspects of iron metabolism, transport, storage and distribution that may be amenable to future intervention and improved removal of iron from important cellular sites are discussed, as are attempts to quantify quality of life and the importance of co-morbidities in measures to treat MDS, including chelation therapy. PMID:21275444

  15. 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

  16. 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 face10% risk of another event within 1215 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

  17. [ACUTE CORONARY SYNDROME AND LIPID-LOWERING THERAPY. DOES THE IMPROVE-IT STUDY MAKE ANY DIFFERENCE?].

    PubMed

    Lancellotti, P; Pierard, L A; Scheen, A J

    2015-09-01

    Statins reduce both LDL cholesterol (LDL-C) levels and the risk of cardiovascular events in patients with and without cardiovascular disease. Intensive statin therapy, compared with moderate-dose statin therapy, incrementally lowers LDL-C levels and rates of cardiovascular events in patients presenting with acute coronary syndrome. Ezetimibe, by diminishing the absorption of cholesterol from the intestine, additionally reduces LDL-C when added to statins. In this article, we discuss the potential benefits of the combination of simvastatin and ezetimibe for the long-term management of patients with acute coronary syndrome through an analysis of the IMPROVE-IT results (IMProved Reduction of Outcomes: Vytorin Efficacy International Trial). This randomised double blind trial included 18,144 patients with a LDL-C of 50 to 100 (with statin) or 125 (without statin) mg/dl and had a median follow-up of 6 years. The objective of the study was to test the efficacy of simvastatin 40 mg versus simvastatin 40 mg and 10 mg ezetimibe. The primary endpoint included cardiovascular death, myocardial infarction, stroke, hospitalization for unstable angina and coronary revascularization. The addition of ezetimibe to simvastatin resulted in an incremental lowering of LDL-C (reached value 53.2 versus 69.9 mg/dl, p < 0.001) and a further improvement of the patient prognosis (relative reduction of primary endpoint: -6.4%, p = 0.016). In addition, the combined therapy showed no significant adverse effects, particularly regarding the risk of cancers, which confirms the safety of ezetimibe. In acute coronary syndrome, the prescription of ezetimibe should be considered (class HA, level of evidence B) in patients with a LDL-C a 70 mg/dl despite maximally tolerated dose of statin. PMID:26638446

  18. Linezolid-Induced Near-Fatal Serotonin Syndrome During Escitalopram Therapy: Case Report and Review of Literature

    PubMed Central

    Kulkarni, Ranganath R.; Kulkarni, Pratibha R.

    2013-01-01

    Linezolid is a synthetic antimicrobial agent of the oxazolidinone class with weak, nonspecific inhibitor of monoamine oxidase enzymes. Concomitant therapy with an adrenergic or serotonergic agent or consuming tyramine (>100 mg/day) may induce serotonin syndrome (SS). We present a case report of near-fatal adverse interaction between linezolid and escitalopram inducing SS in a 65-year-old woman with sepsis, under empirical antibiotic treatment. This report also summarizes the current relevant literature as identified via PubMed, EMBASE, and PsycINFO, supplemented with a manual search of cross references. PMID:24379509

  19. 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

  20. Chronic Ocular Complications of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: The Role of Systemic Immunomodulatory Therapy.

    PubMed

    Chang, Victoria S; Chodosh, James; Papaliodis, George N

    2016-01-01

    Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare, but potentially blinding diseases that affect the skin and mucous membranes. Although the cutaneous manifestations tend to be self-limited and resolve without sequelae, the chronic ocular complications associated with SJS/TEN can persist despite local therapy. Poor understanding of the underlying pathophysiology and lack of a standardized clinical approach have resulted in a paucity of data in regards to suitable treatment options. Inflammatory cellular infiltration and elevated levels of ocular surface cytokines in the conjunctival specimens of affected patients give credence to an underlying immunogenic etiology. Furthermore, the presence of ongoing ocular surface inflammation and progressive conjunctival fibrosis in the absence of exogenous aggravating factors suggest a possible role for systemic immunomodulatory therapy (IMT). We review in detail the proposed immunogenesis underlying chronic ocular SJS/TEN and the possible utility of systemic IMT. PMID:26959145

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

    PubMed Central

    Souparnika, Sreelatha; DSouza, 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

  2. In what type of interstitial cystitis/bladder pain syndrome is DMSO intravesical instillation therapy effective?

    PubMed Central

    2015-01-01

    Background Dimethylsulfoxide (DMSO) is the most-used agent for intravesical instillation. We conducted this retrospective clinical study to determine in what type of the interstitial cystitis (IC)/bladder pain syndrome (BPS) DMSO was effective. Methods We combined DMSO with hydrodistension in 2003 and from 2004 we performed hydrodistension alone. Hydrodistension had been performed in 7 cases of IC/BPS with Hunner’s lesions (H group) and 7 cases of IC/BPS without Hunner’s lesions (non-H group), and they served as the control group (C group; n=14). There was also a DMSO group (D group; n=14) that consisted of an H group of 7 cases and an non-H group of 7 cases in which the hydrodistension had been immediately followed by intravesical instillation of 50% DMSO 50 mL. Before, and 2, 6, 12, 18, and 24 months (M) after the intervention, the patients were asked to complete a 4-day frequency-volume chart (FVC) and the O’Leary-Sant IC symptom index (ICSI) questionnaire and IC problem index (ICPI) questionnaire, and to rate their pain on a visual analogue scale (VAS). Results All parameters were improved after hydrodistension in both the C group and the D group. However, comparison of the C group and D group according to whether Hunner lesions were present showed that there were no significant differences in any of the postoperative parameters between the non-H groups in the C group and D group, but in the H groups, average and maximum voided volume were significantly higher and the ICSI, ICPI, and VAS scores were lower in the D group. Moreover, the significant differences increased with the duration of the postoperative period. Conclusions DMSO intravesical instillation therapy was useful in both maintaining and improving the effectiveness of hydrodistension in IC/BPS with Hunner lesions. However, DMSO did not have any particular efficacy in the treatment of IC/BPS in the absence of Hunner lesions. PMID:26816859

  3. 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 (0.10.2 mg/kg/day compared with the FDA-approved 2045 mg/m2/day dosage, a 75%90% reduction) to avoid cytotoxicity. These well-tolerated doses were frequently administered 13 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-phasedependent DNMT1 depletion. RESULTS. The median subject age was 73 years (range, 4685 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, 1861,152 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

  4. 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

  5. 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

  6. Rationale and Design of a Randomized Clinical Trial of Beta Blocker Therapy (Atenolol) vs. Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals with Marfan Syndrome

    PubMed Central

    Lacro, Ronald V.; Dietz, Harry C.; Wruck, Lisa M.; Bradley, Timothy J.; Colan, Steven D.; Devereux, Richard B.; Klein, Gloria L.; Li, Jennifer S.; Minich, L. LuAnn; Paridon, Stephen M.; Pearson, Gail D.; Printz, Beth F.; Pyeritz, Reed E.; Radojewski, Elizabeth; Roman, Mary J.; Saul, J. Philip; Stylianou, Mario P.; Mahony, Lynn

    2009-01-01

    Background Cardiovascular pathology, including aortic root dilation, dissection, and rupture, is the leading cause of mortality in patients with Marfan syndrome (MFS). The maximal aortic root diameter at the sinuses of Valsalva is considered the best predictor of adverse cardiovascular outcome. Although advances in therapy have improved life expectancy, affected individuals continue to suffer cardiovascular morbidity and mortality. Recent studies in a FBN1-targeted mouse model of MFS with aortic pathology similar to that seen in humans showed that treatment with losartan normalized aortic root growth and aortic wall architecture. Methods The Pediatric Heart Network designed a randomized clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in MFS subjects receiving atenolol or losartan. Individuals 6 months to 25 years of age with a body surface area-adjusted aortic root Z-score > 3.0 will be eligible for inclusion. The primary aim is to compare the effect of atenolol therapy to that of losartan therapy on the rate of aortic root growth over 3 years. Secondary endpoints include progression of aortic regurgitation; incidence of aortic dissection, aortic root surgery, and death; progression of mitral regurgitation; left ventricular size and function; echocardiographically-derived measures of central aortic stiffness; skeletal and somatic growth; and incidence of adverse drug reactions. Conclusion This randomized trial should make a substantial contribution to the management of individuals with MFS and expand our understanding of the mechanisms responsible for the aortic manifestations of this disorder. PMID:17892982

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

    MedlinePLUS

    ... shoulder impingement syndrome is a common cause of shoulder pain that may result from such conditions as rotator ... follow-up. The patients responded to questionnaires about shoulder pain and function before receiving any treatments during the ...

  8. 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

  9. 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

  10. Duration of dual antiplatelet therapy following percutaneous coronary intervention on re-hospitalization for acute coronary syndrome

    PubMed Central

    2014-01-01

    Background The optimal duration of dual antiplatelet therapy after percutaneous coronary intervention (PCI) remains uncertain. The objective of this study was to examine the association between duration of dual antiplatelet therapy and re-hospitalization for acute coronary syndrome (ACS) in ACS patients who underwent PCI. Methods We identified 975 newly diagnosed ACS patients who underwent PCI between July, 2007 and June, 2009, at a medical center in Taiwan. Cox proportional hazard models were used to examine the association between duration of dual antiplatelet therapy (9months, 12months and 15months) and risks of re-hospitalization for ACS. Results At a mean follow-up of 2.3years, we found that use of clopidogrel for???12months was associated with a decreased risk of re-hospitalization for ACS (adjusted HR 0.59, 95% CI 0.36-0.95; p?=?0.03). However, use of clopidogrel for???15months was not associated with a decreased risk of re-hospitalization for ACS (adjusted HR 0.57, 95% CI 0.29-1.13; p?=?0.11). Similar results were found in patients who implanted drug-eluting stents (DES), for whom at least 12months of clopidogrel therapy is especially critical. Conclusion The benefit of???12months of clopidogrel use in reducing the risk of re-hospitalization for ACS was significant among ACS patients who underwent PCI and was especially critical for those who implanted DES. PMID:24533683

  11. Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.

    PubMed

    Gross, Oliver; Perin, Laura; Deltas, Constantinos

    2014-09-01

    The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the 'inevitable' course to a treatable disease. Tomorrow, researchers hope to erase the 'always' from 'always leads to renal failure' in the textbooks. This review elucidates therapeutic targets that evolve from research: (i) kidney embryogenesis and pathogenesis; (ii) phenotype-genotype correlation and the role of collagen receptors and podocytes; (iii) the malfunctioning Alport-GBM; (iv) tubulointerstitial fibrosis; (v) the role of proteinuria in pathogenesis and prognosis; and (vi) secondary events such as infections, hyperparathyroidism and hypercholesterolaemia. Therefore, moderate lifestyle, therapy of bacterial infections, Paricalcitol in adult patients with hyperparathyroidism and HMG-CoA-reductase inhibitors in adult patients with dyslipoproteinemia might contribute to a slower progression of AS and less cardiovascular events. In the future, upcoming treatments including stem cells, chaperon therapy, collagen receptor blockade and anti-microRNA therapy will expand our perspective in protecting the kidneys of Alport patients from further damage. This perspective on current and future therapies is naturally limited by our personal focus in research, but aims to motivate young scientists and clinicians to find a multimodal cure for AS. PMID:25165179

  12. The effectiveness and cost evaluation of pain exposure physical therapy and conventional therapy in patients with complex regional pain syndrome type 1. Rationale and design of a randomized controlled trial

    PubMed Central

    2012-01-01

    Background Pain Exposure Physical Therapy is a new treatment option for patients with Complex Regional Pain Syndrome type 1. It has been evaluated in retrospective as well as in prospective studies and proven to be safe and possibly effective. This indicates that Pain Exposure Physical Therapy is now ready for clinical evaluation. The results of an earlier performed pilot study with an n = 1 design, in which 20 patients with Complex Regional Pain Syndrome type 1 were treated with Pain Exposure Physical Therapy, were used for the design and power calculation of the present study. After completion and evaluation of this phase III study, a multi-centre implementation study will be conducted. The aim of this study is to determine whether Pain Exposure Physical Therapy can improve functional outcomes in patients with Complex Regional Pain Syndrome type 1. Methods/design This study is designed as a single-blinded, randomized clinical trial. 62 patients will be randomized with a follow-up of 9 months to demonstrate the expected treatment effect. Complex Regional Pain Syndrome type 1 is diagnosed in accordance with the Bruehl/International Association for the Study of Pain criteria. Conventional therapy in accordance with the Dutch guideline will be compared with Pain Exposure Physical Therapy. Primary outcome measure is the Impairment level SumScore, restricted version. Discussion This is the first randomized controlled study with single blinding that has ever been planned in patients with Complex Regional Pain Syndrome type 1 and does not focus on a single aspect of the pain syndrome but compares treatment strategies based on completely different pathophysiological and cognitive theories. Trial registration Clinical trials NCT00817128; National Trial Register NTR2090 PMID:22515496

  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. NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy?

    PubMed

    Mishra, Om P; Kakani, Neha; Singh, Arun K; Narayan, Gopeshwar; Abhinay, Abhishek; Prasad, Rajniti; Batra, Vineeta V

    2014-06-01

    Steroid-resistant nephrotic syndrome (SRNS) patients with NPHS2 gene mutations have been reported as non-responsive to immunosuppressive therapy. Inter-ethnic differences can have influence over the frequency of mutations. The present study was undertaken to find out the incidence and treatment response. Mutational analysis of NPHS2 gene was performed in 20 sporadic idiopathic SRNS, 90 steroid-sensitive nephrotic syndrome (SSNS) and 50 normal controls. NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%). The polymorphism (G?A) showed Hardy-Weinberg distribution and risk allele (G) had strong association with the disease (odds ratio 3.14, 95% CI 1.33-7.43) than controls. Five cases of SRNS having polymorphism showed partial remission to cyclosporine and prednisolone. Overall, partial remission was achieved in 14(70%), complete remission in four (20%), one(5%) patient had no response and one(5%) died. Thus, NPHS2 gene showed R229Q polymorphism and patients achieved partial remission to therapy. PMID:24519673

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

    PubMed Central

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

    2013-01-01

    Primary de Toni-Debr-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-Debr-Fanconi syndrome was subsequently made. Respiratory chain enzyme analysis identified a complex I mitochondrial deficiency as the underlying cause. She was treated with phosphate (5070?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

  17. Stroke-like migraine attacks after radiation therapy (SMART) syndrome is not always completely reversible: a case series.

    PubMed

    Black, D F; Morris, J M; Lindell, E P; Krecke, K N; Worrell, G A; Bartleson, J D; Lachance, D H

    2013-12-01

    We retrospectively reviewed clinical and imaging findings in 11 patients with stroke-like migraine attacks after radiation therapy (SMART) syndrome to better understand this disorder previously thought to be reversible. Six men and 5 women had complex bouts of neurologic impairment beginning, on average, 20 years after cerebral irradiation. All had characteristic, unilateral gyriform enhancement on MR imaging that developed within 2-7 days and typically resolved in 2-5 weeks. Unlike prior reports, 45% had incomplete neurologic recovery manifesting as dysphasia, cognitive impairment, or hemiparesis. The remaining 55% recovered completely over an average of 2 months. Three of 11 patients developed cortical laminar necrosis. Brain biopsies in 4 of 11 did not demonstrate a specific pathologic substrate. These additional 11 patients contribute to the understanding of variability in stroke-like migraine attacks after radiation therapy syndrome, which often but not uniformly manifests with headaches and seizures, demonstrates a typical evolution of imaging findings, and may result in permanent neurologic and imaging sequelae. PMID:23788601

  18. Acute Human Immunodeficiency Virus (HIV) Syndrome After Nonadherence to Antiretroviral Therapy in a Patient With Chronic HIV Infection: A Case Report

    PubMed Central

    Choi, Seong K.; Graber, Christopher J.

    2014-01-01

    We report a rare case of acute human immunodeficiency virus (HIV) syndrome in a patient with chronic HIV infection with acute illness indistinguishable from acute retroviral syndrome. The patient presented with an acute febrile mononucleosis-like illness after increasing nonadherence to antiretroviral therapy. A marked increase in HIV RNA level of 1 220 000 copies/mL from less than 20 copies/mL occurred within 3 weeks. The diagnosis of acute HIV syndrome was made after alternative causes of illness were ruled out. PMID:25734180

  19. Ezetimibe combined with standard diet and exercise therapy improves insulin resistance and atherosclerotic markers in patients with metabolic syndrome

    PubMed Central

    Ohbu-Murayama, Kyoko; Adachi, Hisashi; Hirai, Yuji; Enomoto, Mika; Fukami, Ako; Obuchi, Aya; Yoshimura, Ayako; Nakamura, Sachiko; Nohara, Yume; Nakao, Erika; Umeki, Yoko; Fukumoto, Yoshihiro

    2015-01-01

    Aims/Introduction Ezetimibe lowers serum lipid levels by inhibiting intestinal absorption of dietary and biliary cholesterol. However, the effect of ezetimibe on insulin resistance remains unclear. The aim of the present study was to examine this issue in patients with metabolic syndrome in local-dwelling Japanese, who were not being treated with lipid-lowering drugs. Materials and Methods In 2009, 1,943 participants received a health examination in the Tanushimaru Study, a Japanese cohort of the Seven Countries Study, of whom 490 participants had metabolic syndrome. Among them, 61 participants (41 men and 20 women) were examined in the present study. They were treated with 10mg of ezetimibe once a day for 24weeks, combined with standard diet and exercise therapy. Results Bodyweight (P<0.001), body mass index (P<0.001), systolic blood pressure (P=0.003), diastolic blood pressure (P<0.001), triglycerides (P=0.002), non-high-density lipoprotein cholesterol (P=0.001), low-density lipoprotein cholesterol (P<0.001) and homeostasis model assessment of insulin resistance (P=0.011) significantly decreased after the observational period. There were no statistically significant differences in the effects of ezetimibe between men and women. Univariate analysis showed that the reduction of homeostasis model assessment of insulin resistance was not associated with the improvement of other metabolic components. Conclusions Ezetimibe combined with standard diet and exercise therapy improves not only bodyweight and atherogenic lipid profiles, but also insulin resistance, blood pressure and anthropometric factors in metabolic syndrome in local-dwelling Japanese. Interestingly, the improvement of insulin resistance had no correlation with other metabolic components. PMID:25969718

  20. Effectiveness of low-level laser therapy for patients with carpal tunnel syndrome: design of a randomized single-blinded controlled trial

    PubMed Central

    2012-01-01

    Background Carpal tunnel syndrome is the most common neuropathy in the upper extremity, resulting from the compression of the median nerve at wrist level. Clinical studies are essentials to present evidence on therapeutic resources use at early restoration on peripheral nerve functionality. Low-level laser therapy has been widely investigated in researches related to nerve regeneration. Therefore, it is suggested that the effect of low-level laser therapy associated with other conservative rehabilitation techniques may positively affect symptoms and overall hand function in compressive neuropathies such as carpal tunnel syndrome. The aim of this study is to evaluate the effectiveness of low-level laser therapy in addition to orthoses therapy and home orientations in patients with carpal tunnel syndrome. Methods/Design Patients older than 18?years old will be included, with clinical diagnosis of carpal tunnel syndrome, excluding comorbidies. A physiotherapist will conduct intervention, with a blinding evaluator. Randomization will be applied to allocate the patients in each group: with association or not to low-level laser therapy. All of them will be submitted to orthoses therapy and home orientations. Outcome will be assessed through: pain visual analogic scale, Semmes Weinstein monofilaments threshold sensibility test, Pinch Gauge, Boston Carpal Tunnel Questionnaire and two point discrimination test. Discussion This paper describes the design of a randomized controlled trial, which aim to assess the effectiveness of conservative treatment added to low-level laser therapy for patients with carpal tunnel syndrome. Trial registration Brazilian Clinical Trials Registry (ReBec) - 75ddtf / Universal Trial Number: U1111-1121-5184 PMID:23237204

  1. Post reperfusion syndrome during liver transplantation: From pathophysiology to therapy and preventive strategies.

    PubMed

    Siniscalchi, Antonio; Gamberini, Lorenzo; Laici, Cristiana; Bardi, Tommaso; Ercolani, Giorgio; Lorenzini, Laura; Faenza, Stefano

    2016-01-28

    This review aims at evaluating the existing evidence regarding post reperfusion syndrome, providing a description of the pathophysiologic mechanisms involved and possible management and preventive strategies. A PubMed search was conducted using the MeSH database, "Reperfusion" AND "liver transplantation" were the combined MeSH headings; EMBASE and the Cochrane library were also searched using the same terms. 52 relevant studies and one ongoing trial were found. The concept of post reperfusion syndrome has evolved through years to a multisystemic disorder. The implications of the main organ, recipient and procedure related factors in the genesis of this complex syndrome are discussed in the text as the novel pharmacologic and technical approaches to reduce its incidence. However the available evidence about risk factors, physiopathology and preventive measures is still confusing, the presence of two main definitions and the numerosity of possible confounding factors greatly complicates the interpretation of the studies. PMID:26819522

  2. Post reperfusion syndrome during liver transplantation: From pathophysiology to therapy and preventive strategies

    PubMed Central

    Siniscalchi, Antonio; Gamberini, Lorenzo; Laici, Cristiana; Bardi, Tommaso; Ercolani, Giorgio; Lorenzini, Laura; Faenza, Stefano

    2016-01-01

    This review aims at evaluating the existing evidence regarding post reperfusion syndrome, providing a description of the pathophysiologic mechanisms involved and possible management and preventive strategies. A PubMed search was conducted using the MeSH database, “Reperfusion” AND “liver transplantation” were the combined MeSH headings; EMBASE and the Cochrane library were also searched using the same terms. 52 relevant studies and one ongoing trial were found. The concept of post reperfusion syndrome has evolved through years to a multisystemic disorder. The implications of the main organ, recipient and procedure related factors in the genesis of this complex syndrome are discussed in the text as the novel pharmacologic and technical approaches to reduce its incidence. However the available evidence about risk factors, physiopathology and preventive measures is still confusing, the presence of two main definitions and the numerosity of possible confounding factors greatly complicates the interpretation of the studies. PMID:26819522

  3. [The otilonium bromide-benzodiazepine combination in the therapy of the irritable colon syndrome].

    PubMed

    Capurso, L; Del Sette, F; Ferrario, F; Tarquini, M

    1992-08-01

    The irritable bowel syndrome is classified ad "disturbance of intestinal motility without an identifiable anatomic substrate". However, the clear etiopathogenetic implications of a psychosomatic nature complicate the search for an adequate therapeutic strategy. Based on this clinical experience, we set out to check the importance of a spasmolytic with a benzodiazepine and the tolerability of this type of combination. We therefore compared the results in 60 patients with irritable bowel syndrome of 8 weeks' treatment with tablets containing octylonium bromide (OB) 20 mg plus diazepam (DZ) 2 mg or OB 40 mg + 2 mg DZ. The doubling of the spasmolytic without increasing the daily dose of anxiolytic appeared to be useful for reducing the symptoms typical for the irritable bowel syndrome. In addition, the combination was found to be perfectly tolerated. PMID:1395454

  4. Fatal Stevens-Johnson syndrome/toxic epidermal necrolysis induced by allopurinol-rituximab-bendamustine therapy.

    PubMed

    Fallon, Michael J; Heck, Jessica N

    2015-10-01

    Stevens-Johnson syndrome/toxic epidermal necrolysis overlap is an acute hypersensitivity reaction that compromises the integrity of mucous membranes and cutaneous tissue. While the pathophysiology of this syndrome has not been fully elucidated, it is commonly associated with the medication use and carries a significant mortality risk of approximately 30%. No commonalities among causative medications have been identified, and determining the offending agent can be challenging. This case report describes fatal Stevens-Johnson syndrome/toxic epidermal necrolysis overlap in a patient after receiving his first cycle of allopurinol, rituximab, and bendamustine treatment for non-Hodgkin's B-cell lymphoma. An analysis of FDA Medwatch adverse reaction case reports involving allopurinol, rituximab, and bendamustine is also presented. PMID:25005569

  5. The evolution of dual antiplatelet therapy in the setting of acute coronary syndrome: ticagrelor versus clopidogrel.

    PubMed

    Amico, Frank; Amico, Angela; Mazzoni, Jennifer; Moshiyakhov, Mark; Tamparo, William

    2016-03-01

    Review of: Wallentin L, Becker RC, Budaj A, et al. Ticagrelor versus clopidogrel in patients with acute coronary syndromes. N Eng J Med 2009; 361(11): 1045-1057. For acute coronary syndrome (ACS), a dual antiplatelet regimen comprised of treatment with aspirin and either P2Y12 adenosine diphosphate receptor antagonists, clopidogrel, prasugrel or ticagrelor is usually employed. This article compares clopidogrel with ticagrelor for the prevention of vascular events and death in broad population of ACS patients ranging from UA, NSTEMI to STEMI, utilizing planned strategies of medical or invasive treatment strategy. PMID:26560350

  6. Treatment of fibromyalgia syndrome: recommendations of recent evidence-based interdisciplinary guidelines with special emphasis on complementary and alternative therapies.

    PubMed

    Ablin, Jacob; Fitzcharles, Mary-Ann; Buskila, Dan; Shir, Yoram; Sommer, Claudia; Häuser, Winfried

    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

  7. 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

  8. Adverse events and deterioration reported by participants in the PACE trial of therapies for chronic fatigue syndrome

    PubMed Central

    Dougall, Dominic; Johnson, Anthony; Goldsmith, Kimberley; Sharpe, Michael; Angus, Brian; Chalder, Trudie; White, Peter

    2014-01-01

    Objective Adverse events (AEs) are health related events, reported by participants in clinical trials. We describe AEs in the PACE trial of treatments for chronic fatigue syndrome (CFS) and baseline characteristics associated with them. Methods AEs were recorded on three occasions over one year in 641 participants. We compared the numbers and nature of AEs between treatment arms of specialist medical care (SMC) alone, or SMC supplemented by adaptive pacing therapy (APT), cognitive behaviour therapy (CBT) or graded exercise therapy (GET). We examined associations with baseline measures by binary logistic regression analyses, and compared the proportions of participants who deteriorated by clinically important amounts. Results Serious adverse events and reactions were infrequent. Non-serious adverse events were common; the median (quartiles) number was 4 (2, 8) per participant, with no significant differences between treatments (P = .47). A greater number of NSAEs were associated with recruitment centre, and baseline physical symptom count, body mass index, and depressive disorder. Physical function deteriorated in 39 (25%) participants after APT, 15 (9%) after CBT, 18 (11%) after GET, and 28 (18%) after SMC (P < .001), with no significant differences in worsening fatigue. Conclusions The numbers of adverse events did not differ significantly between trial treatments, but physical deterioration occurred most often after APT. The reporting of non-serious adverse events may reflect the nature of the illness rather than the effect of treatments. Differences between centres suggest that both standardisation of ascertainment methods and training are important when collecting adverse event data. PMID:24913337

  9. Long-term effects of recombinant human growth hormone therapy in children with PraderWilli syndrome

    PubMed Central

    Wolfgram, Peter M.; Carrel, Aaron L.; Allen, David B.

    2015-01-01

    Purpose of review Recombinant human growth hormone (hGH) therapy in children with PraderWilli syndrome (PWS) improves linear growth, body composition, physical strength and agility, and other metabolic parameters. These benefits must be weighed against potential adverse effects, including rare occurrences of sudden death. This review summarizes recent evidence important to a benefitrisk analysis of hGH use in children with PWS. Recent findings Studies consistently show that hGH improves stature, body composition, fat percentage and distribution, and other metabolic markers in children with PWS. Preliminary reports of improved cognitive development during hGH have also emerged. Scoliosis progression is influenced by growth rate, but frequency of occurrence and severity are not increased by hGH exposure. PWS genotype does not appear to affect response to hGH. Concerns about hGH-associated sudden death persist, but recent studies show either absence of change in sleep-disordered breathing or improved sleep cardiovascular function during hGH therapy. Summary Recent studies confirm and expand reported benefits of hGH therapy in children with PWS, including a possible salutary role in cognitive development. These findings support previous assertions that hGH can reduce morbidity and improve function in children with PWS, and suggest that potential risks of such treatment are favorably balanced by its benefits. PMID:23782572

  10. 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

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

    PubMed

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

    2015-11-01

    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

  12. 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

  13. Thoracic manifestations of paradoxical immune reconstitution inflammatory syndrome during or after antituberculous therapy in HIV-negative patients.

    PubMed

    Pornsuriyasak, Prapaporn; Suwatanapongched, Thitiporn

    2015-01-01

    Immune reconstitution inflammatory syndrome (IRIS) is a consequence of exaggerated and dysregulated host's inflammatory response to invading microorganism, leading to uncontrolled inflammatory reactions. IRIS associated with tuberculosis (TB) is well recognized among human immunodeficiency virus (HIV)-infected patients receiving highly active antiretroviral therapy, but it is less common among HIV-negative patients. IRIS can manifest as a paradoxical worsening or recurring of preexisting tuberculous lesions or development of new lesions despite successful antituberculous treatment. Hence, the condition might be misdiagnosed as superimposed infections, treatment failure, or relapse of TB. This pictorial essay reviewed diagnostic criteria and various thoracic manifestations of the paradoxical form of TB-associated IRIS (TB-IRIS) that might aid in early recognition of this clinical entity among HIV-negative patients. The treatment and outcomes of TB-IRIS were also discussed. PMID:25698091

  14. Increased uptake of guideline-recommended oral antiplatelet therapy: insights from the Canadian acute coronary syndrome reflective.

    PubMed

    Gandhi, Sumeet; Zile, Brigita; Tan, Mary K; Saranu, Jhansi; Bucci, Claudia; Yan, Andrew T; Robertson, Patrick; Quantz, Mackenzie A; Letovsky, Eric; Tanguay, Jean-Francois; Dery, Jean-Pierre; Fitchett, David; Madan, Mina; Cantor, Warren J; Heffernan, Michael; Natarajan, Madhu K; Wong, Graham C; Welsh, Robert C; Goodman, Shaun G

    2014-12-01

    Current guideline-based recommendations for oral dual-antiplatelet therapy in an acute coronary syndrome (ACS) include the use of newer adenosine diphosphate receptor inhibitor (ADPri) regimens and agents. The Canadian ACS Reflective Program is a multicenter observational quality-enhancement project that compared the use of ADPri therapy in 2 phases (November 2011-March 2013 and April 2013-November 2013) and also compared ADPri use with previous national data from the Canadian Global Registry of Acute Coronary Events (2000-2008). Of 3099 patients with ACS, 30.6% had ST-segment elevation myocardial infarction (STEMI), 52.3% had non-STEMI, and 17% had unstable angina. There was high use of dual-antiplatelet therapy for ? 24 hours, with important increases noted when compared with previous national experience (P for trend, < 0.0001). Clopidogrel was the most commonly used ADPri (82.2%), with lower use of the newer agents ticagrelor (9.0%) and prasugrel (3.1%). Ticagrelor and prasugrel use was most frequent in patients with STEMI undergoing percutaneous coronary intervention PCI (34.3%). There was relatively lower use of ADPri therapy at discharge; it was given mainly to patients who did not undergo PCI (68.2%) and to those with non-ST-elevation ACS (82%). When comparing the 2 consecutive phases of data collection in the ACS Reflective, there was an approximate 3- and 2-fold increase in the early and discharge use of the newer ADPri agents, respectively. In conclusion, there has been a temporal increase in ADPri use compared with previous national experience and an increased uptake of newer ADPri agents. Additional work is needed to identify and address barriers limiting optimal implementation of these newer guideline-recommended agents into routine Canadian practice. PMID:25475475

  15. Therapy-related acute myeloid leukemia and myelodysplastic syndrome: a clinical and morphologic study of 65 cases

    SciTech Connect

    Michels, S.D.; McKenna, R.W.; Arthur, D.C.; Brunning, R.D.

    1985-06-01

    This study consists of 65 patients (pts) who developed a myelodysplastic syndrome (MDS) (39 pts) or acute myeloid leukemia (AML) (26 pts) following chemotherapy and/or radiotherapy; the interval from the onset of therapy to bone marrow abnormality ranged from 11 to 192 months (median, 58). Thirty-three patients had been previously treated for lymphoproliferative diseases, 29 for carcinoma, and three for a nonneoplastic disorder. Approximately 30% of the cases presenting in the MDS phase evolved to AML in one to 12 months (median, 3.5). The AML in 49% of the cases was not readily classified according to French-American-British (FAB) criteria; the primary difficulty in classification related to the involvement of multiple cell lines. Among the cases that could be classified, all FAB types were represented except for M1; M2 was the most frequent type. Clonal chromosome abnormalities were found in marrow specimens from 22 of 24 (92%) patients studied with G banding; 11 had abnormalities of chromosomes 5 and/or 7. The median survival for all patients was four months with no significant difference between those treated and not treated with antileukemic therapy. The median survival was three months for the patients presenting with AML, six months for the patients with AML following an MDS, and four months for the patients with an MDS that did not evolve to AML. The findings in the present study suggest that there are three stages of therapy-related panmyelosis: (1) pancytopenia with associated myelodysplastic changes, (2) a frank MDS, and (3) overt AML. Many patients will present in the stage of overt AML that differs from de novo AML primarily by the high incidence of trilineage involvement, difficulty in classification, frequent cytogenetic abnormalities, and poor response to antileukemic therapy.

  16. 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

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

    PubMed

    Peraire, J; Lpez-Dupla, M; Alba, V; Beltrn-Debn, R; Martinez, E; Domingo, P; Asensi, V; Leal, M; Vilads, C; Inza, M-I; Escot, 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

  18. Activities of Daily Living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

    PubMed Central

    Tanjuakio, Julian; Suzuki, Yasuyuki; Patel, Pravin; Yasuda, Eriko; Kubaski, Francyne; Tanaka, Akemi; Yabe, Hiromasa; Mason, Robert W.; Montaño, Adriana M.; Orii, Kenji E.; Orii, Koji O.; Fukao, Toshiyuki; Orii, Tadao; Tomatsu, Shunji

    2014-01-01

    The aim of this study was to assess the Activities of Daily Living (ADL) in patients with Hunter syndrome (mucopolysaccharidosis II; MPS II) using a newly designed ADL questionnaire. We applied the questionnaire to evaluate clinical phenotypes and therapeutic efficacies of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). We also explored early signs and symptoms to make early diagnosis feasible. We devised a new ADL questionnaire with three domains: “Movement,” “Movement with Cognition,” and “Cognition.” Each domain has four subcategories rated on a 5-point scale based on level of assistance. We also scored signs and symptoms unique to MPS by 12 subcategories (five points per category), providing 60 points in total. The questionnaire was first administered to 138 healthy Japanese controls (0.33 – 50 years), and successively, to 74 Japanese patients with Hunter syndrome (4 – 49 years). The patient cohort consisted of 51 severe and 23 attenuated phenotypes; 20 patients treated with HSCT, 23 patients treated early with ERT (≤ 8 years), and 25 patients treated late with ERT (> 8 years), and 4 untreated patients. Among 18 severe phenotypic patients treated by HSCT, 10 were designated as early HSCT (≤ 5 years), while 8 were designated as late HSCT (> 5 years). Scores from patients with severe phenotypes were lower than controls and attenuated phenotypes in all categories. Among patients with severe phenotypes, there was a trend that HSCT provides a higher ADL score than early ERT, and there was a significant difference in ADL scores between late ERT and HSCT groups. Early ERT and early HSCT provided a higher score than late ERT and late HSCT, respectively. In conclusion, we have evaluated the feasibility of a new questionnaire in control population and patients with Hunter syndrome, leading to a novel evaluation method for clinical phenotypes and therapeutic efficacy. Early treatment with HSCT provides a better consequence in ADL of patients. PMID:25468646

  19. 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

  20. Radiation Therapy for Gorham-Stout Syndrome: Results of a National Patterns-of-Care Study and Literature Review

    SciTech Connect

    Heyd, Reinhard; Micke, Oliver; Surholt, Christine; Berger, Bernhard; Martini, Carmen; Fueller, Juergen; Schimpke, Thomas; Seegenschmiedt, M. Heinrich

    2011-11-01

    Purpose: The German Cooperative Group on Radiotherapy for Benign Diseases conducted a national patterns-of-care study to investigate the value of radiation therapy (RT) in the management of Gorham-Stout syndrome. Methods and Materials: In 2009 a structured questionnaire was circulated to 230 German RT institutions to assess information about the number of patients, the RT indication and technique, and the target volume definition, as well as accompanying treatments, outcome data, and early or late radiation toxicity. Results: In November 2009 responses were available from 197 departments (85.6%): 29 university hospitals (14.7%), 89 community hospitals (45.2%), and 79 private RT offices (40.1%). Of these institutions, 8 (4.0%) had experience using RT, for a total of 10 cases in various anatomic sites. Four patients underwent irradiation postoperatively, and six patients received primary RT. The total doses applied after computed tomography-based treatment planning ranged from 30 to 45 Gy. After a median follow-up period of 42 months, local disease progression was avoided in 8 cases (80.0%). In 2 of these cases a progression occurred beyond the target volume. Acute and late toxicity was mild; in 4 patients RT was associated with Grade I side effects according to Radiation Therapy Oncology Group/European Organisation for Research and Treatment of Cancer criteria. The literature analysis of 38 previously published articles providing results after the use of RT in 44 patients showed stable or regressive disease in 77.3%. Conclusions: RT may prevent disease progression effectively in Gorham-Stout syndrome in 77% to 80% of cases. Total doses ranging from 30 to 45 Gy applied after computed tomography-based treatment planning are recommended.

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

    PubMed Central

    Canals, Isaac; Benet, Noelia; Cozar, Mnica; Vilageliu, Llusa; 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 (3060%) 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

  2. 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

  3. 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

  4. Yang/Qi Invigoration: An Herbal Therapy for Chronic Fatigue Syndrome with Yang Deficiency?

    PubMed Central

    Wong, Hoi Shan; Chen, Jihang; Ko, Kam Ming

    2015-01-01

    According to traditional Chinese medicine (TCM) theory, Yang and Qi are driving forces of biological activities in the human body. Based on the crucial role of the mitochondrion in energy metabolism, we propose an extended view of Yang and Qi in the context of mitochondrion-driven cellular and body function. It is of interest that the clinical manifestations of Yang/Qi deficiencies in TCM resemble those of chronic fatigue syndrome in Western medicine, which is pathologically associated with mitochondrial dysfunction. By virtue of their ability to enhance mitochondrial function and its regulation, Yang- and Qi-invigorating tonic herbs, such as Cistanches Herba and Schisandrae Fructus, may therefore prove to be beneficial in the treatment of chronic fatigue syndrome with Yang deficiency. PMID:25763095

  5. Colchicine therapy in amyloidosis related with plasmacytic Castleman disease presenting with nephrotic syndrome.

    PubMed

    Paydas, Saime; Paydas, Semra; Ergin, Melek

    2015-09-01

    Castleman disease (CD) is a neoplasm that presents with single or multiple lymphadenopathy. The disease is characterized by fever, weight loss, anemia, polyclonal hyperglobulinemia, splenomegaly, thrombocytosis and peripheral lymphadenopathy. In this paper, we report a young man with plasmacytic type CD and amyloid A (AA) deposition who presented with intra-abdominal mass and nephrotic syndrome. He was successfully treated with colchicine following surgery. PMID:26354576

  6. [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

  7. Down Syndrome

    MedlinePLUS

    ... chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person ... can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and ...

  8. 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

  9. [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

  10. 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

  11. 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 patients response suggests that iron chelation might alter the natural history of mds in some patients. PMID:25908918

  12. Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome

    PubMed Central

    Ali, Saba F.; Sonu, Rebecca J.; Dwyre, Denis M.; Jonas, Brian A.; Rashidi, Hooman H.

    2015-01-01

    Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value. PMID:26798525

  13. Myelodysplastic syndromes following therapy with hypomethylating agents (HMAs): development of acute erythroleukemia may not influence assessment of treatment response.

    PubMed

    Peng, Jie; Hasserjian, Robert P; Tang, Guilin; Patel, Keyur P; Goswami, Maitrayee; Jabbour, Elias J; Garcia-Manero, Guillermo; Jeffrey Medeiros, L; Wang, Sa A

    2016-04-01

    This study followed 28 patients with myelodysplastic syndromes (MDS) who showed a rise of bone marrow (BM) erythroids to ≥ 50% following three cycles (1-60) of hypomethylating agent (HMA) therapy. If BM blasts were calculated as a percentage of non-erythroids, 12 (42.9%) patients met the diagnostic criteria for acute erythroleukemia, erythroid/myeloid (AEL). However, none of the patients showed clonal cytogenetic evolution or new mutations. When compared to 47 de novo AEL patients, these 12 patients were less anemic and thrombocytopenic, had less complex karyotypes (p = 0.044) and showed a longer survival, either calculated from diagnosis (p < 0.001) or from the time of AEL (p = 0.005). These findings illustrate that ≥ 50% erythroids may appear in BM post-HMA therapy, likely a combination of reduction of BM granulocytes (p < 0.001) and promotion of normal or abnormal erythroid proliferation. Enumeration of blasts as a percentage of non-erythroid cells may lead to a diagnosis of AEL and mis-interpretation as disease progression. PMID:26293512

  14. Grade 4 febrile neutropenia and Fourniers Syndrome associated with triple therapy for hepatitis C virus: A case report

    PubMed Central

    Oliveira, Kelly Cristhian Lima; Cardoso, Emili de Oliveira Bortolon; de Souza, Suzana Carla Pereira; Machado, Flvia Souza; Zangirolami, Carlos Eduardo Alves; Moreira, Alecsandro; Silva, Giovanni Faria; de Oliveira, Cssio Vieira

    2014-01-01

    The use of triple therapy for hepatitis C not only increases the rate of sustained virological responses compared with the use of only interferon and ribavirin (RBV) but also leads to an increased number of side effects. The subject of this study was a 53-year-old male who was cirrhotic with hepatitis C virus genotype 1 A and was a previous null non-responder. We initially attempted retreatment with boceprevir (BOC), Peg-interferon and RBV, and a decrease in viral load was observed in the 8th week. In week 12, he presented with disorientation, flapping, fever, tachypnea, arterial hypotension and tachycardia. He also exhibited leucopenia with neutropenia. Cefepime and filgrastim were initiated, and treatment for hepatitis C was suspended. A myelogram revealed hypoplasia, cytotoxicity and maturational retardation. After 48 h, he developed bilateral inguinal erythema that evolved throughout the perineal area to the root of the thighs, with exulcerations and an outflow of seropurulent secretions. Because we hypothesized that he was suffering from Fourniers Syndrome, treatment was replaced with the antibiotics imipenem, linezolid and clindamycin. After this new treatment paradigm was initiated, his lesions regressed without requiring surgical debridement. Triple therapy requires knowledge regarding the management of adverse effects and drug interactions; it also requires an understanding of the importance of respecting the guidelines for the withdrawal of treatment. In this case report, we observed an adverse event that had not been previously reported in the literature with the use of BOC. PMID:25018856

  15. 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

  16. [Phantom limb pain syndrome: therapeutic approach using mirror therapy in a Geriatric Department].

    PubMed

    Gonzlez Garca, Paloma; Manzano Hernndez, M Pilar; Muoz Toms, M Teresa; Martn Hernndez, Carlos; Forcano Garca, Mercedes

    2013-01-01

    The clinical use of mirror visual feedback was initially introduced to alleviate phantom pain by restoring motor function through plastic changes in the human primary motor cortex. It is a promising novel technique that gives a new perspective to neurological rehabilitation. Using this therapy, the mirror neuron system is activated and decrease the activity of those systems that perceive protopathic pain, making somatosensory cortex reorganization possible. This paper reports the results of the mirror therapy in three patients with phantom limb pain after recent lower limb amputation, showing its analgesic effects and its benefits as a comprehensive rehabilitation instrument for lower limb amputee geriatric patients. PMID:23498652

  17. Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3

    PubMed Central

    Mazzanti, Andrea; Maragna, Riccardo; Faragli, Alessandro; Monteforte, Nicola; Bloise, Raffaella; Memmi, Mirella; Novelli, Valeria; Baiardi, Paola; Bagnardi, Vincenzo; Etheridge, Susan P.; Napolitano, Carlo; Priori, Silvia G.

    2016-01-01

    Background Long QT syndrome type 3 (LQT3) is a lethal disease caused by gain-of-function mutations in the SCN5A gene, coding for the alpha-subunit of the sodium channel NaV1.5. Mexiletine is used to block late sodium current and to shorten QT interval in LQT3 patients. Objectives The aim of this study was to determine whether mexiletine prevents arrhythmic events (arrhythmic syncope, aborted cardiac arrest, or sudden cardiac death) in LQT3 patients. Methods The endpoint of this retrospective cohort study, which studied consecutive LQT3 patients who were referred to our center and treated with mexiletine, was to evaluate the antiarrhythmic efficacy of mexiletine by comparing the number of arrhythmic events per patient and the annual rate of arrhythmic events during observation periods of equal duration before and after the beginning of therapy with mexiletine. Results The study population comprised 34 LQT3 patients, 19 (56%) of whom were male. The median age at beginning of treatment with mexiletine was 22 years, and median QTc interval before therapy 509 ms. The median duration of oral mexiletine therapy was 36 months, at an average daily dose of 8 ± 0.5 mg/kg. Mexiletine significantly shortened QTc (by 63 ± 6 ms; p < 0.0001) and reduced the percentage of patients with arrhythmic events (from 22% to 3%; p = 0.031), the mean number of arrhythmic events per patient (from 0.43 ± 0.17 to 0.03 ± 0.03; p = 0.027), and the annual rate of arrhythmic events (from 10.3% to 0.7%; p = 0.0097). Conclusions Besides shortening QTc interval, mexiletine caused a major reduction of life-threatening arrhythmic events in LQT3 patients, thus representing an efficacious therapeutic strategy. PMID:26940925

  18. Pulmonary Complications of Azanucleoside Therapy in Patients with Myelodysplastic Syndrome and Acute Myelogenous Leukemia

    PubMed Central

    Molina, Manuel; Yellapragada, Sarvari; Mims, Martha; Rahman, Effie; Rivero, Gustavo

    2015-01-01

    Our primary aim was to identify potential risk factors and clinical outcome of azanucleoside induced pulmonary complications in patients with myelodysplastic syndrome (MDS) and Acute Myelogenous Leukemia (AML). We present an 89-year-old female with MDS derived AML who developed fatigability, hypoxemia, and bilateral lung infiltrates indicating interstitial lung disease after 11 cycles of azanucleoside. In addition, we describe a cohort of six MDS patients with fever, cough, dyspnea, and pulmonary infiltrates at early time point during azanucleoside treatment. Early and late onset of pulmonary manifestations suggest different pathogenic mechanisms. Brief azanucleoside discontinuation and steroids led to rapid improvement in symptoms. PMID:26798526

  19. Prostate Cancer and Li-Fraumeni Syndrome: Implications for Screening and Therapy

    PubMed Central

    Spees, Colleen K.; Kelleher, Kelly J.; Abaza, Ronney; Clinton, Steven K.

    2015-01-01

    Li-Fraumeni Syndrome (LFS) is an autosomal dominant genetic disorder associated with mutations in the TP53 gene and characterized by a propensity to develop a variety of malignancies resulting in a shortened lifespan. We report a case of prostate cancer in a 50 year old male with LFS. Experimental studies suggest that TP53 mutations in prostate cancer are associated with therapeutic resistance to radiation, chemotherapy, and anti-androgens, implying that LFS men may experience more aggressive cancer biology with implications for therapeutic decisions. The potential of prostate cancer to develop earlier in LFS favors institution of screening at earlier ages.

  20. Disorder resembling Guillain-Barr syndrome on initiation of statin therapy.

    PubMed

    Rajabally, Yusuf A; Varakantam, Vivek; Abbott, Richard J

    2004-11-01

    We report a disorder resembling Guillain-Barre syndrome, occurring on initiation of simvastatin, in a 58-year-old man, who had experienced a similar but milder episode after starting pravastatin 6 months earlier. This case suggests that acute polyradiculoneuropathy may represent a rare but serious side-effect of statin treatment. It also raises the issue of the pathophysiology of acute neuropathy on statin exposure, with a hypersensitivity reaction resulting in an immune-mediated process being possible instead of the hypothesized mitochondrial dysfunction in chronic cases. PMID:15389662

  1. A randomised trial of adaptive pacing therapy, cognitive behaviour therapy, graded exercise, and specialist medical care for chronic fatigue syndrome (PACE): statistical analysis plan

    PubMed Central

    2013-01-01

    Background The publication of protocols by medical journals is increasingly becoming an accepted means for promoting good quality research and maximising transparency. Recently, Finfer and Bellomo have suggested the publication of statistical analysis plans (SAPs).The aim of this paper is to make public and to report in detail the planned analyses that were approved by the Trial Steering Committee in May 2010 for the principal papers of the PACE (Pacing, graded Activity, and Cognitive behaviour therapy: a randomised Evaluation) trial, a treatment trial for chronic fatigue syndrome. It illustrates planned analyses of a complex intervention trial that allows for the impact of clustering by care providers, where multiple care-providers are present for each patient in some but not all arms of the trial. Results The trial design, objectives and data collection are reported. Considerations relating to blinding, samples, adherence to the protocol, stratification, centre and other clustering effects, missing data, multiplicity and compliance are described. Descriptive, interim and final analyses of the primary and secondary outcomes are then outlined. Conclusions This SAP maximises transparency, providing a record of all planned analyses, and it may be a resource for those who are developing SAPs, acting as an illustrative example for teaching and methodological research. It is not the sum of the statistical analysis sections of the principal papers, being completed well before individual papers were drafted. Trial registration ISRCTN54285094 assigned 22 May 2003; First participant was randomised on 18 March 2005. PMID:24225069

  2. Serious air leak syndrome complicating high-flow nasal cannula therapy: a report of 3 cases.

    PubMed

    Hegde, Satyanarayan; Prodhan, Parthak

    2013-03-01

    Despite the absence of clinical safety data, heated, humidified high-flow nasal cannula (HHFNC) therapy is increasingly being used as an alternative to positive-pressure ventilation in pediatrics. This use of HHFNC is "off label" because the US Food and Drug Administration's approval for these devices was only for air humidification and not as a modality to provide positive distending pressure. For the first time we describe 3 cases who developed serious air leaks related to HHFNC therapy. The first child was a previously healthy 2-month-old male infant with respiratory syncytial virus bronchiolitis who developed a right pneumothorax on day 5 of his illness at 8 liters per minute (lpm). He subsequently required intubation and ventilation for 14 days. The second case involved an otherwise healthy 16-year-old boy with cerebral palsy who developed pneumomediastinum and died of its complications. He was receiving 20 lpm HHFNC therapy when he developed pneumomediastinum. The third case involved a 22-month-old, previously healthy boy who developed subdural hematoma secondary to abuse. He developed a right pneumothorax while receiving HHFNC at a flow of 6 lpm, requiring chest tube placement. These cases emphasize the need for extreme caution while using HHFNC for the off-label indication of providing positive distending pressure in children, especially at flows higher than the patient's minute ventilation. A more detailed study to specifically look at the serious adverse events related to HHFNC is urgently needed. PMID:23382446

  3. 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

  4. 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

  5. Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy: immune mechanisms and update on current therapies.

    PubMed

    van der Meché, F G; van Doorn, P A

    1995-05-01

    The relation between Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy is discussed. Most likely they represent parts of a continuum, arbitrarily separated by their time course. Within the concept of chronic inflammatory demyelinating polyneuropathy the presence of a monoclonal gammopathy of undetermined significance is discussed. The pathogenesis of inflammatory demyelinating polyneuropathies has not been elucidated yet, but involvement of the immune system has been firmly established. Preceding infections, especially with Campylobacter jejuni, and the analysis of antiganglioside antibodies lend new support to the hypothesis of molecular mimicry between epitopes on infectious agents and peripheral nerve constituents as one of the mechanisms in Guillain-Barré syndrome. In the future, a further classification of individual patients based on clinical, epidemiological, electrophysiological, pathological, microbiological, and immunological criteria may give a basis for more individualized treatment strategies. In Guillain-Barré syndrome the efficacy of high-dose intravenous immune globulin treatment was established after earlier positive findings with plasma exchange; immune globulins are easier to administer and may be superior. Even with these treatments it should be anticipated that one fourth of patients after immune globulin treatment and one third of patients after plasma exchange will show further deterioration in the first 2 weeks after onset of treatment. Despite this, just one treatment course usually is indicated in the individual patient, and no valid arguments were found to switch to the other treatment modality. In chronic inflammatory demyelinating polyneuropathy, prednisone, plasma exchange, and immune globulins are effective in a proportion of patients. The last two are equally effective. Patients may respond to one of these if a previous treatment failed, and here switching therapy may be effective due to the chronic course of the disease. Complexity and costs make plasma exchange the last choice. Whether prednisone or immune globulin is the first choice depends on the speed of recovery and the estimation of long-term loss of quality of life due to side effects of prednisone versus the costs of immune globulins. The mechanism of immune globulins in inflammatory polyneuropathies is discussed. There is evidence that idiotypic-antiidiotypic interaction may play a role, but several other mechanisms also may be involved. PMID:8968214

  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 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

  8. Complete Remission of Nephrotic Syndrome Without Resolution of Amyloid Deposit After Anti-Tumor Necrosis Factor α Therapy in a Patient With Ankylosing Spondylitis.

    PubMed

    Lee, Yu Ho; Kim, Eun Young; Jeong, Da Wun; Kim, Yang-Gyun; Lee, Sang-Ho; Song, Ran; Yang, Hyung In; Lim, Sung Jig; Moon, Ju-Young; Lee, Sang-Hoon

    2016-03-01

    In secondary amyloid A amyloidosis resulting from rheumatologic diseases, tumor necrosis factor α blockers have been reported to be effective in the treatment of both arthritis and amyloidosis. However, there have been few reports concerning the alterations of renal tissue histology before and after long-term tumor necrosis factor α blockers therapy in secondary renal amyloidosis. We report the histological change after tumor necrosis factor α blocker therapy in patient with amyloid A amyloidosis and nephrotic syndrome secondary to underlying ankylosing spondylitis. The patient achieved complete remission of nephrotic syndrome after 17 months of etanercept treatment. We performed the second kidney biopsy after 40 months, and there was little change in the degree of amyloid deposition in the mesangial area and capillary loops compared with the first biopsy. The interstitial inflammation and foot process effacement, however, were fully recovered. PMID:26906302

  9. 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)

  10. Purinergic signaling and human immunodeficiency virus/acquired immune deficiency syndrome: From viral entry to therapy

    PubMed Central

    Passos, Daniela F; Schetinger, Maria Rosa C; Leal, Daniela BR

    2015-01-01

    Human immunodeficiency virus (HIV) infection is a serious condition associated to severe immune dysfunction and immunodeficiency. Mechanisms involved in HIV-associated immune activation, inflammation and loss of CD4+ T cells have been extensively studied, including those concerning purinergic signaling pathways. Purinergic signaling components are involved in viral entry and replication and disease progression. Research involving the participation of purinergic signaling in HIV infection has been not only important to elucidate disease mechanisms but also to introduce new approaches to therapy. The involvement of purinergic signaling in the pathogenesis of HIV infection and its implications in the control of the HIV infection are reviewed in this paper. PMID:26279989

  11. Neurodevelopmental outcome at 6 years of age after intrauterine laser therapy for twin-twin transfusion syndrome.

    PubMed

    Graeve, Pauline; Banek, Corinna; Stegmann-Woessner, Gaby; Maschke, Cornelia; Hecher, Kurt; Bartmann, Peter

    2012-12-01

    This study was undertaken to evaluate neurodevelopmental outcome of children at 6 years of age after intrauterine laser therapy for Twin-twin transfusion syndrome (TTTS). This is part of a longitudinal study in children after intrauterine laser therapy for TTTS; 190 of 254 (74.8%) children, previously investigated at a median age of 2 years 10 months, were re-evaluated at 6 years 5 months (range 4 years 11 months -10 years 4 months). Sixty-four patients were not examined due to loss of contact. The median gestational age at birth was 34 + 3 weeks. The study included a physical/neurological examination, a standardized neurodevelopmental test (Kaufman-ABC) and/or results from the national screening programme for children as well as questionnaires. Patients were grouped in three outcome categories: group I: normal examination and test result; group II: minor neurological deficiencies and normal test results; group III: major neurological deficiencies and/or test results below minus two standard deviations. The following results were obtained at 6 years 5 months (for comparison, results of the same patients at 2 years 10 months in brackets). Group I: 79.5% (84.2%); group II: 11.6% (8.9%); group III: 8.9% (6.8%). Twenty-one (11%) patients had a worse and 8 (4.2%) an improved classification at 6 years 5 months as compared to 2 years 10 months. Overall, the results with 6 years did not significantly differ from the results with 2 years. Neurodevelopmental outcome at 6 years 5 months was not statistically, significantly different from outcome at 2 years 10 months. PMID:22946904

  12. Type 2 diabetes mellitus and the cardiometabolic syndrome: impact of incretin-based therapies

    PubMed Central

    Schwartz, Stanley; Kohl, Benjamin A

    2010-01-01

    The rates of type 2 diabetes mellitus, obesity, and cardiovascular disease (CVD) continue to increase at epidemic proportions. It has become clear that these disease states are not independent but are frequently interrelated. By addressing conditions such as obesity, insulin resistance, stress hyperglycemia, impaired glucose tolerance, and diabetes mellitus, with its micro- and macrovascular complications, a specific treatment strategy can be developed. These conditions can be addressed by early identification of patients at high risk for type 2 diabetes, prompt and aggressive treatment of their hyperglycemia, recognition of the pleiotropic and synergistic benefits of certain antidiabetes agents on CVD, and thus, avoiding potential complications including hypoglycemia and weight gain. Incretin-based therapies, which include glucagon-like peptide-1 (GLP-1) receptor agonists and dipeptidyl peptidase-IV (DPP-IV) inhibitors, have the potential to alter the course of type 2 diabetes and associated CVD complications. Advantages of these therapies include glucose-dependent enhancement of insulin secretion, infrequent instances of hypoglycemia, weight loss with GLP-1 receptor agonists, weight maintenance with DPP-IV inhibitors, decreased blood pressure, improvements in dyslipidemia, and potential beneficial effects on CV function. PMID:21437091

  13. Are Pain-Related Fears Mediators for Reducing Disability and Pain in Patients with Complex Regional Pain Syndrome Type 1? An Explorative Analysis on Pain Exposure Physical Therapy

    PubMed Central

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

    2015-01-01

    Objective To investigate whether pain-related fears are mediators for reducing disability and pain in patients with Complex Regional Pain Syndrome type 1 when treating with Pain Exposure Physical Therapy. Design An explorative secondary analysis of a randomised controlled trial. Participants Fifty-six patients with Complex Regional Pain Syndrome type 1. Interventions The experimental group received Pain Exposure Physical Therapy in a maximum of five treatment sessions; the control group received conventional treatment following the Dutch multidisciplinary guideline. Outcome measures Levels of disability, pain, and pain-related fears (fear-avoidance beliefs, pain catastrophizing, and kinesiophobia) were measured at baseline and after 3, 6, and 9 months follow-up. Results The experimental group had a significantly larger decrease in disability of 7.77 points (95% CI 1.09 to 14.45) and in pain of 1.83 points (95% CI 0.44 to 3.23) over nine months than the control group. The potential mediators pain-related fears decreased significantly in both groups, but there were no significant differences between groups, which indicated that there was no mediation. Conclusion The reduction of pain-related fears was comparable in both groups. We found no indication that pain-related fears mediate the larger reduction of disability and pain in patients with Complex Regional Pain Syndrome type 1 treated with Pain Exposure Physical Therapy compared to conventional treatment. Trial registration International Clinical Trials Registry NCT00817128 PMID:25919011

  14. 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

  15. Pathogenesis of macrophage activation syndrome and potential for cytokine- directed therapies.

    PubMed

    Schulert, Grant S; Grom, Alexei A

    2015-01-01

    Macrophage activation syndrome (MAS) is an acute episode of overwhelming inflammation characterized by activation and expansion of T lymphocytes and hemophagocytic macrophages. In rheumatology, it occurs most frequently in patients with systemic juvenile idiopathic arthritis (SJIA) and systemic lupus erythematosus. The main clinical manifestations include cytopenias, liver dysfunction, coagulopathy resembling disseminated intravascular coagulation, and extreme hyperferritinemia. Clinically and pathologically, MAS bears strong similarity to hemophagocytic lymphohistiocytosis (HLH), and some authors prefer the term secondary HLH to describe it. Central to its pathogenesis is a cytokine storm, with markedly increased levels of numerous proinflammatory cytokines including IL-1, IL-6, IL-18, TNF?, and IFN?. Although there is evidence that IFN? may play a central role in the pathogenesis of MAS, the role of other cytokines is still not clear. There are several reports of SJIA-associated MAS dramatically benefiting from anakinra, a recombinant IL-1 receptor antagonist, but the utility of other biologics in MAS is not clear. The mainstay of treatment remains corticosteroids; other medications, including cyclosporine, are used in patients who fail to respond. PMID:25386930

  16. 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

  17. Oxidative stress and Down syndrome. Do antioxidants play a role in therapy?

    PubMed

    Muchov, J; it?anov, I; ?ura?kov, Z

    2014-01-01

    Oxidative stress is a phenomenon associated with imbalance between production of free radicals and reactive metabolites (e.g. superoxide and hydrogen peroxide) and the antioxidant defences. Oxidative stress in individuals with Down syndrome (DS) has been associated with trisomy of the 21st chromosome resulting in DS phenotype as well as with various morphological abnormalities, immune disorders, intellectual disability, premature aging and other biochemical abnormalities. Trisomy 21 in patients with DS results in increased activity of an important antioxidant enzyme Cu/Zn superoxide dismutase (SOD) which gene is located on the 21st chromosome along with other proteins such as transcription factor Ets-2, stress inducing factors (DSCR1) and precursor of beta-amyloid protein responsible for the formation of amyloid plaques in Alzheimer disease. Mentioned proteins are involved in the management of mitochondrial function, thereby promoting mitochondrial theory of aging also in people with DS. In defence against toxic effects of free radicals and their metabolites organism has built antioxidant defence systems. Their lack and reduced function increases oxidative stress resulting in disruption of the structure of important biomolecules, such as proteins, lipids and nucleic acids. This leads to their dysfunctions affecting pathophysiology of organs and the whole organism. This paper examines the impact of antioxidant interventions as well as positive effect of physical exercise on cognitive and learning disabilities of individuals with DS. Potential therapeutic targets on the molecular level (oxidative stress markers, gene for DYRK1A, neutrophic factor BDNF) after intervention of natural polyphenols are also discussed. PMID:24908086

  18. Early environmental therapy rescues brain development in a mouse model of Down syndrome.

    PubMed

    Begenisic, Tatjana; Sansevero, Gabriele; Baroncelli, Laura; Cioni, Giovanni; Sale, Alessandro

    2015-10-01

    Down syndrome (DS), the most common genetic disorder associated with intellectual disabilities, is an untreatable condition characterized by a number of developmental defects and permanent deficits in the adulthood. Ts65Dn mice, the major animal model for DS, display severe cognitive and synaptic plasticity defects closely resembling the human phenotype. Here, we employed a multidisciplinary approach to investigate, for the first time in developing Ts65Dn mice, the effects elicited by early environmental enrichment (EE) on brain maturation and function. We report that exposure to EE resulted in a robust increase in maternal care levels displayed by Ts65Dn mothers and led to a normalization of declarative memory abilities and hippocampal plasticity in trisomic offspring. The positive effects of EE on Ts65Dn phenotype were not limited to the cognitive domain, but also included a rescue of visual system maturation. The beneficial EE effects were accompanied by increased BDNF and correction of over-expression of the GABA vesicular transporter vGAT. These findings highlight the beneficial impact of early environmental stimuli and their potential for application in the treatment of major functional deficits in children with DS. PMID:26244989

  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

    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

  1. 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

  2. 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

  3. Treatment pattern of contemporary dual antiplatelet therapies after acute coronary syndrome: a Swedish nationwide population-based cohort study.

    PubMed

    Angerås, Oskar; Hasvold, Pål; Thuresson, Marcus; Deleskog, Anna; ÖBraun, Oscar

    2016-04-01

    Objectives New dual antiplatelet therapies (DAPTs) have been introduced in clinical practice for patients with acute coronary syndrome (ACS). This nationwide study investigated DAPT patterns over time and patient characteristics associated with the various treatments in a population with ACS. Design This observational cohort study linked morbidity, mortality and medication data from Swedish national registries. Results Overall, 91% (104 012 patients) of all patients admitted to the hospital with an ACS (2009-2013) were alive after discharge and included in this study. Compared with 2009, in 2013 patients investigated with angiography increased by 10%, patients revascularized with percutaneous coronary intervention (PCI) increased by 11% and patients prescribed DAPT increased by 8%. Mean DAPT duration increased from 225 to 298 days in patients investigated with angiography, and from 155 to 208 days in patients who were not investigated with angiography. Furthermore, in patients undergoing angiography a treatment switch from clopidogrel to ticagrelor was observed. DAPT with prasugrel was used to a low extent. Approximately 10% of patients initiated on prasugrel or ticagrelor switched to clopidogrel during the first year of treatment. Conclusion During the study more patients underwent angiography and PCI. There was an increase in the proportion of ACS patients receiving DAPT, as well as longer duration of DAPT in line with ESC guidelines. Among DAPT-treated patients, ticagrelor has emerged as the preferred P2Y12 antagonist in patients undergoing angiography, whereas clopidogrel tended to be prescribed to patients treated non-invasively. PMID:26564402

  4. 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.

  5. Chronic pelvic pain syndrome: reduction of medication use after pelvic floor physical therapy with an internal myofascial trigger point wand.

    PubMed

    Anderson, Rodney U; Harvey, Richard H; Wise, David; Nevin Smith, J; Nathanson, Brian H; Sawyer, Tim

    2015-03-01

    This study documents the voluntary reduction in medication use in patients with refractory chronic pelvic pain syndrome utilizing a protocol of pelvic floor myofascial trigger point release with an FDA approved internal trigger point wand and paradoxical relaxation therapy. Self-referred patients were enrolled in a 6-day training clinic from October, 2008 to May, 2011 and followed the protocol for 6 months. Medication usage and symptom scores on a 1-10 scale (10 = most severe) were collected at baseline, and 1 and 6 months. All changes in medication use were at the patient's discretion. Changes in medication use were assessed by McNemar's test in both complete case and modified intention to treat (mITT) analyses. 374 out of 396 patients met inclusion criteria; 79.7 % were male, median age of 43 years and median symptom duration of 5 years. In the complete case analysis, the percent of patients using medications at baseline was 63.6 %. After 6 months of treatment the percentage was 40.1 %, a 36.9 % reduction (p < 0.001). In the mITT analysis, there was a 22.7 % overall reduction from baseline (p < 0.001). Medication cessation at 6 months was significantly associated with a reduction in total symptoms (p = 0.03). PMID:25708131

  6. A non-complement-fixing antibody to β2 glycoprotein I as a novel therapy for antiphospholipid syndrome.

    PubMed

    Agostinis, Chiara; Durigutto, Paolo; Sblattero, Daniele; Borghi, Maria O; Grossi, Claudia; Guida, Filomena; Bulla, Roberta; Macor, Paolo; Pregnolato, Francesca; Meroni, Pier Luigi; Tedesco, Francesco

    2014-05-29

    A single-chain fragment variable (scFv) recognizing β2-glycoprotein 1 (β2GPI) from humans and other species was isolated from a human phage display library and engineered to contain an IgG1 hinge-CH2-CH3 domain. The scFv-Fc directed against β2GPI domain I-induced thrombosis and fetal loss, thus mimicking the effect of antibodies from patients with antiphospholipid syndrome (APS). Complement is involved in the biological effect of anti-β2GPI scFv-Fc, as demonstrated by its ability to promote in vitro and in vivo complement deposition and the failure to induce vascular thrombosis in C6-deficient rats and fetal loss in C5-depleted mice. A critical role for complement was also supported by the inability of the CH2-deleted scFv-Fc to cause vessel occlusion and pregnancy failure. This antibody prevented the pathological effects of anti-β2GPI antibodies from APS patients and displaced β2GPI-bound patient antibodies. The CH2-deleted antibody represents an innovative approach potentially useful to treat APS patients refractory to standard therapy. PMID:24642748

  7. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis - A Comprehensive Review and Guide to Therapy. I. Systemic Disease.

    PubMed

    Kohanim, Sahar; Palioura, Sotiria; Saeed, Hajirah N; Akpek, Esen K; Amescua, Guillermo; Basu, Sayan; Blomquist, Preston H; Bouchard, Charles S; Dart, John K; Gai, Xiaowu; Gomes, José A P; Gregory, Darren G; Iyer, Geetha; Jacobs, Deborah S; Johnson, Anthony J; Kinoshita, Shigeru; Mantagos, Iason S; Mehta, Jodhbir S; Perez, Victor L; Pflugfelder, Stephen C; Sangwan, Virender S; Sippel, Kimberly C; Sotozono, Chie; Srinivasan, Bhaskar; Tan, Donald T H; Tandon, Radhika; Tseng, Scheffer C G; Ueta, Mayumi; Chodosh, James

    2016-01-01

    The intent of this review is to comprehensively appraise the state of the art with regard to Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), with particular attention to the ocular surface complications and their management. SJS and TEN represent two ends of a spectrum of immune-mediated, dermatobullous disease, characterized in the acute phase by a febrile illness followed by skin and mucous membrane necrosis and detachment. The widespread keratinocyte death seen in SJS/TEN is rapid and irreversible, and even with early and aggressive intervention, morbidity is severe and mortality not uncommon. We have divided this review into two parts. Part I summarizes the epidemiology and immunopathogenesis of SJS/TEN and discusses systemic therapy and its possible benefits. We hope this review will help the ophthalmologist better understand the mechanisms of disease in SJS/TEN and enhance their care of patients with this complex and often debilitating disease. Part II (April 2016 issue) will focus on ophthalmic manifestations. PMID:26549248

  8. 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

  9. Acute coronary syndrome presenting after pseudoephedrine use and regression with beta-blocker therapy

    PubMed Central

    Akay, Serhat; Ozdemir, Metehan

    2008-01-01

    Pseudoephedrine, a common ingredient in cold relief drugs, dietary supplements and Chinese herbal tea, has potent sympathomimetic effects, impacting the cardiovascular system. The chemical properties and clinical effects of pseudoephedrine are similar to those of ephedrine, and its main effect is caused by the release of endogenous norepinephrine. A 45-year-old man who presented with chest pain following ingestion of pseudoephedrine-containing prescription medication is described. The patient was initially diagnosed with inferior myocardial infarction based on an electrocardiogram, and intravenous metoprolol was started pending coronary artery angiography. Metoprolol reversed the ST segment elevation and relieved the symptoms, and coronary angiography showed normal coronary arteries. The present case highlights beta-blocker therapy as part of an initial intervention of pseudoephedrine-related cardiac symptoms. PMID:18987767

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

    PubMed

    Remacha, ngel F; Arrizabalaga, Beatriz; Villegas, Ana; Durn, Mara Soledad; Hermosn, 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

  11. 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

  12. 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

  13. 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

  14. Maintenance Therapy with Decitabine after Allogeneic Stem Cell Transplantation for Acute Myelogenous Leukemia and Myelodysplastic Syndrome.

    PubMed

    Pusic, Iskra; Choi, Jaebok; Fiala, Mark A; Gao, Feng; Holt, Matthew; Cashen, Amanda F; Vij, Ravi; Abboud, Camille N; Stockerl-Goldstein, Keith E; Jacoby, Meghan A; Uy, Geoffrey L; Westervelt, Peter; DiPersio, John F

    2015-10-01

    Decitabine is a hypomethylating agent that irreversibly inhibits DNA methyltransferase I, inducing leukemic differentiation and re-expression of epigenetically silenced putative tumor antigens. We assessed safety and efficacy of decitabine maintenance after allogeneic transplantation for acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Decitabine maintenance may help eradicate minimal residual disease, decrease the incidence of graft-versus-host disease (GVHD), and facilitate a graft-versus-leukemia effect by enhancing the effect of T regulatory lymphocytes. Patients with AML/MDS in complete remission (CR) after allotransplantation started decitabine between day +50 and +100. We investigated 4 decitabine doses in cohorts of 4 patients: 5, 7.5, 10, and 15 mg/m(2)/day 5 days every 6 weeks, for a maximum 8 cycles. The maximum tolerated dose (MTD) was defined as the maximum dose at which ? 25% of people experience dose-limiting toxicities during the first cycle of treatment. Twenty-four patients were enrolled and 22 were evaluable. All 4 dose levels were completed and no MTD was reached. Overall, decitabine maintenance was well tolerated. Grade 3 and 4 hematological toxicities were experienced by 75% of patients, including all patients treated at the highest dose level. Nine patients completed all 8 cycles and 8 of them remain in CR. Nine patients died from relapse (n = 4), infectious complications (n = 3), and GVHD (n = 2). Most occurrences of acute GVHD were mild and resolved without interruption of treatment; 1 patient died of acute gut GVHD. Decitabine maintenance did not clearly impact the rate of chronic GVHD. Although there was a trend of increased FOXP3 expression, results were not statistically significant. In conclusion, decitabine maintenance is associated with acceptable toxicities when given in the post-allotransplantation setting. Although the MTD was not reached, the dose of 10 mg/m(2) for 5 days every 6 weeks appeared to be the optimal dose rather than 15 mg/m(2), where most hematological toxicities occurred. PMID:26055299

  15. Subchronic Administration and Combination Metabotropic Glutamate and GABAB Receptor Drug Therapy in Fragile X Syndrome

    PubMed Central

    Pacey, Laura K. K.; Tharmalingam, Sujeenthar

    2011-01-01

    The most common cause of inherited mental retardation, fragile X syndrome, results from a triplet repeat expansion in the FMR1 gene and loss of the mRNA binding protein, fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling through group I metabotropic glutamate receptors (mGluRs) is enhanced. We previously proposed a mechanism whereby the audiogenic seizures exhibited by FMR1 null mice result from an imbalance in excitatory mGluR and inhibitory GABAB receptor (GABABR) signaling (Mol Pharmacol 76:18–24, 2009). Here, we tested the mGluR5-positive allosteric modulator 3-cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide (CDPPB), the mGluR5 inverse agonist 2-methyl-6-(phenylethynyl)pyridine (MPEP), and GABAB receptor agonists, alone and in combination on receptor protein expression and audiogenic seizures in FMR1 mice. Single doses of MPEP (30 mg/kg), the GABABR orthosteric agonist R-baclofen (1 mg/kg), or the GABABR-positive allosteric modulator N,N′-dicyclopentyl-2-(methylthio)-5-nitro-4,6-pyrimidine diamine (GS-39783) (30 mg/kg), reduced the incidence of seizures. However, when administered subchronically (daily injections for 6 days), MPEP retained its anticonvulsant activity, whereas R-baclofen and GS-39783 did not. When administered at lower doses that had no effect when given alone, a single injection of MPEP plus R-baclofen also reduced seizures, but the effect was lost after subchronic administration. We were surprised to find that subchronic treatment with R-baclofen also induced tolerance to a single high dose of MPEP. These data demonstrate that tolerance develops rapidly to the antiseizure properties of R-baclofen alone and R-baclofen coadministered with MPEP, but not with MPEP alone. Our findings suggest that cross-talk between the G-protein signaling pathways of these receptors affects drug efficacy after repeated treatment. PMID:21636656

  16. Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations

    PubMed Central

    Tomatsu, Shunji; Sawamoto, Kazuki; Shimada, Tsutomu; Bober, Michael B.; Kubaski, Francyne; Yasuda, Eriko; Mason, Robert W.; Khan, Shaukat; Alméciga-Díaz, Carlos J.; Barrera, Luis A.; Mackenzie, William G.

    2015-01-01

    Introduction Following a Phase III, randomized, double-blind, placebo (PBO)-controlled, multinational study in subjects with mucopolysaccharidosis IVA (MPS IVA), enzyme replacement therapy (ERT) of elosulfase alfa has been approved in several countries. The study was designed to evaluate safety and efficacy of elosulfase alfa in patients with MPS IVA aged 5 years and older. Areas covered Outcomes of clinical trials for MPS IVA have been described. Subjects received either 2.0 mg/kg/week, 2.0 mg/kg/every other week, or PBO, for 24 weeks. The primary endpoint was the change from baseline 6-min walk test (6MWT) distance compared to PBO. The 6MWT results improved in patients receiving 2 mg/kg weekly compared to PBO. The every other week regimen resulted in walk distances comparable to PBO. There was no change from baseline in the 3 Min Stair Climb Test in both treatment groups. Following completion of the initial study, patients, who continued to receive elosulfase alfa 2 mg/kg weekly (QW) for another 48 weeks (for a total of up to 72-week exposure), did not show additional improvement on 6MWT. Expert opinion We suggest that ERT is a therapeutic option for MPS IVA, providing a modest effect and the majority of the effects are seen in the soft tissues. PMID:26973801

  17. Thrombolytic Therapy for Cerebral Vein Thrombosis in Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus

    PubMed Central

    Hajialilo, Mehrzad; Noshad, Hamid; Mohammadian, Reza; Khabbazi, Ali Reza; Daghighi, Mohammad Hossein; Saleh, Parviz

    2012-01-01

    A 20-year-old woman was admitted to a Gynecology Hospital in her 6th month of pregnancy for high blood pressure and tonic-clonic seizure. Primary diagnosis was eclampsia, and for that reason she underwent cesarean section. She also had headache on frontal and parietal areas without nausea or vomiting. There was not a focal neurological sign. Rheumatology consultation was requested. Systemic lupus erythematosus and secondary antiphospholipid (APS) was confirmed. The patient had headache that continued several days after cesarean section, therefore, brain magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) were performed, and cerebral vein thrombosis was documented. Distal segment of right lateral sinus and sigmoid sinus were not appeared in brain MRV. Abnormal hypersignal intensity of right lateral sinus/coronal T2 was detected. Thrombolytic therapy with 20 mg tissue plasminogen activator on right sigmoid and transverse sinus was performed by an interventional neurologist. After this procedure, the patient's headache healed and she was discharged in a good condition. PMID:23115432

  18. 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

  19. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

    PubMed

    Canton, Ana Pinheiro Machado; Nishi, Mirian Yumie; Furuya, Tatiane Katsue; Roela, Rosimeire Aparecida; Jorge, Alexander Augusto Lima

    2016-04-01

    The 9p trisomy syndrome is a rare condition, clinically characterized by a wide range of dysmorphic features, intellectual disability, and, in most patients, by short stature. Recombinant human growth hormone (rhGH) therapy is still controversial in syndromic disorders, the reason for which it is not currently indicated. Here we report a 7-year-old boy with 9p trisomy syndrome and marked short stature. Results of routine laboratory assessments were normal. IGF1 and IGFBP3 levels were both in the normal range (-1.6 and -0.7 SDS, respectively). GH peak in response to oral clonidine stimulation test was 3.5 μg/L, which is considered a normal response. Chromosomal analysis revealed the karyotype 47,XY, + del(9)(pter-q11:) dn. SNP array data indicated absence of mosaicism [arr 9p24.3-p13.1 (203,861-38,787,480) x3]. By the age of 8.3 years, the patient had persistent short stature (-2.9 SDS) with normal growth velocity (4.9 cm/y; -0.7 SDS), not showing spontaneous catch-up. After 5.6 years of rhGH therapy (50 μg/kg/d), height SDS improved from -2.9 to -1.0. This result suggests that rhGH therapy could be considered for patients with 9p trisomy syndrome who present with short stature. The degree of intellectual disability and the potential for social inclusion should be taken into account when recommending this treatment. Additional studies are needed to establish the benefits of height gain in these patients. © 2015 Wiley Periodicals, Inc. PMID:26689153

  20. Pioglitazone therapy for HIV/HAART-associated lipodystrophy syndrome could increase subcutaneous fat mass in non-lipoatrophic but not in lipoatrophic regions.

    PubMed

    Okada, Sadanori; Konishi, Mitsuru; Ishii, Hitoshi

    2016-01-01

    Highly active antiretroviral therapy (HAART) is associated with multiple metabolic disorders, including lipodystrophy, dyslipidaemia and insulin resistance. HIV/HAART-associated lipodystrophy syndrome (HALS) is characterised by subcutaneous fat wasting, central fat accumulation and increased risk of diabetes. Thiazolidinediones are considered a promising treatment for HALS, because they improve insulin sensitivity and increase subcutaneous fat mass. In previous studies, pioglitazone increased overall fat mass in patients with HALS but whether fat distribution changes remains unclear. We describe a HALS patient with diabetes treated with pioglitazone. Prior to pioglitazone therapy, he had hollowed cheeks, loss of fat in the extremities and abdominal obesity. 18 months after starting pioglitazone and switching his HAART regimens, T1-weighted MRI showed obvious increases in the subcutaneous fat mass of the neck and upper trunk, but no changes in the cheeks and extremities. Pioglitazone therapy for HALS could increase subcutaneous fat mass in non-lipoatrophic but not in lipoatrophic regions. PMID:26917795

  1. A single-institution experience with treatment of severe acute chest syndrome: lack of rebound pain with dexamethasone plus transfusion therapy.

    PubMed

    Isakoff, Michael S; Lillo, J Alyssa; Hagstrom, J Nathan

    2008-04-01

    The use of corticosteroid therapy for the treatment of acute chest syndrome (ACS) in patients with sickle cell disease has been infrequently used owing to concerns for rebound pain. Here, we report a cohort of patients<21 years of age with sickle cell disease treated between January 2001 and June 2006 for severe ACS with both corticosteroids and transfusion therapy. We reviewed 53 episodes of severe ACS with an average hospital duration of 4.9 days. Only 1 patient out of 6 who were transferred to the intensive care unit required intubation. None of the ACS episodes resulted in death and none of the 4 readmissions after discharge were due to pain. There was no acute toxicity related to either corticosteroid or transfusion therapy. PMID:18391705

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

    PubMed

    Tomatsu, Shunji; Sawamoto, Kazuki; Almciga-Daz, Carlos J; Shimada, Tsutomu; Bober, Michael B; Chinen, Yasutsugu; Yabe, Hiromasa; Montao, Adriana M; Giugliani, Roberto; Kubaski, Francyne; Yasuda, Eriko; Rodrguez-Lpez, Alexander; Espejo-Mojica, Angela J; Snchez, 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 0.480.054 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

  3. 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

  4. A critique of oral therapy of dehydration due to diarrheal syndromes.

    PubMed

    Nichols, B L; Soriano, H A

    1977-09-01

    Under the circumstances of limited health resources and immediate need for preventing the dehydration associated with diarrhea in infants, breastfeeding should be encouraged throughout the diarrheal episode. When this is not possible because of cessation or failure of lactation, an oral electrolyte solution should be administered. It should be sterile and provide a quantity of electrolytes not greatly in excess of 30 mEq/liter of sodium and potassium. There should be little possibility of an error in the dilution of the mixture if it is to be supplied in powdered form. Milk should be reintroduced after 24 hours and the electrolyte mix rapidly discontinued so as to minimize nutritional deficits. If no such electrolyte mixture is available, it is reasonable to alternate feedings of commercial soft drinks or bland teas with milk feedings. There should be specific instructions that the infant should be brought to the hydration center if more than 3 sequential feedings are lost by vomiting, if fever is present, or it the stools exceed the volume of 3 feedings. In general, dehydration of less than 5% of body weight can be managed by this program in the house, dehydration greater than 5% but less than 10% requires supervision by health authorities, and dehydration greater than 10% requires intravenous therapy in a hydration center. In those countries with cholera and during epidemics of shigellosis or enterotoxigenic Escherichia coli, solutions containing 90 mEq/liter of sodium should be given under ambulatory supervision. This solution should be discontinued when fecal losses moderate (less than 60 ml/kg/day) and the lower electrolyte solution (30 mEq/liter) substituted. PMID:331934

  5. 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.

  6. Chinese Herbal Decoction Based on Syndrome Differentiation as Maintenance Therapy in Patients with Extensive-Stage Small-Cell Lung Cancer: An Exploratory and Small Prospective Cohort Study

    PubMed Central

    Liu, Rui; He, Shu lin; Zhao, Yuan chen; Zheng, Hong gang; Li, Cong huang; Bao, Yan ju; Qin, Ying gang; Hou, Wei; Hua, Bao Jin

    2015-01-01

    Objective. To investigate the treatment effect and treatment length of Chinese herbal decoction (CHD) as maintenance therapy on patients with extensive-stage small-cell lung cancer (ES-SCLC) and to reflect the real syndrome differentiation (Bian Zheng) practices of traditional Chinese medicine (TCM). Patients and Methods. Different CHDs were prescribed for each patient based on syndrome differentiation. The length of CHD treatment was divided into two phases for analyzing progression-free survival (PFS) and postprogression survival (PPS). Results. Three hundred and fifty-seven CHDs were prescribed based on syndrome differentiation during the study period. Median PFS was significantly longer in patients who received CHD >3 months than patients who received CHD ≤3 months in the first phase (8.7 months versus 4.5 months; hazard ratio (HR), 0.52; 95% confidence interval (CI), 0.41–0.99; P = 0.0009). Median PPS was significantly longer in patients who received CHD >7 months than patients who received CHD ≤7 months in the second phase (11.7 months versus 5.1 months; HR, 2.32; 95% CI, 1.90–2.74; P = 0.002). Conclusion. CHD could improve PFS and PPS, which are closely related to treatment time and deepness of response of first-line therapy. In addition, CHD could improve body function and keep patients in a relatively stable state. PMID:25815038

  7. Anti-M?llerian hormone a prognostic marker for metformin therapy efficiency in the treatment of women with infertility and polycystic ovary syndrome

    PubMed Central

    Neagu, M; Cristescu, C

    2012-01-01

    Background: The anti- M?llerian hormone (AMH) is secreted in women exclusively by the granulosa cells of the ovarian follicles. The serum level of AMH is a precise marker of follicle pool size. In recent clinical studies of polycystic ovary syndrome (PCOS), the serum levels of AMH were elevated about two to threefold. The use of metformin in women with infertility and PCOS has proved to be efficient: restoring ovulation and reducing metabolic dysfunctions. The aim of our study is to assess AMH as a prognostic marker for metformin therapy efficiency in the treatment of women with infertility and polycystic ovary syndrome (PCOS). Methods: Eleven patients with infertility and PCOS were enrolled; PCOS was diagnosed according to the criteria of Androgen Excess and Polycystic Ovarian Syndrome Society 2006 (AE/PCOS). All patients have received metformin therapy. Serum AMH was recorded before and after 2 months of treatment; the normal laboratory values were 2.0-6.8 ng/ml. Results: The primary serum AMH level of all women in study was very high: 8.990.99 ng/ml. After 2 months of treatment with metformin ovulation was restored in all the patients and the serum AMH levels were significantly decreased. Conclusions: In clinical practice, serum AMH levels of women with infertility and PCOS receiving metformin are a useful predictive marker for the treatment efficiency. PMID:23346251

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

    PubMed

    Spanemberg, Juliana Cassol; Lpez Lpez, Jos; de Figueiredo, Maria Antonia Zancanaro; Cherubini, Karen; Salum, Fernanda Gonalves

    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

  9. The General Weakness Syndrome Therapy (GymNAST) study: protocol for a cohort study on recovery on walking function

    PubMed Central

    Mehrholz, Jan; Mckel, Simone; Oehmichen, Frank; Pohl, Marcus

    2014-01-01

    Introduction Critical illness myopathy (CIM) and polyneuropathy (CIP) are common complications of critical illness that frequently occur together. Both cause so called intensive care unit (ICU)-acquired muscle weakness. This weakness of limb muscles increases morbidity and delay rehabilitation and recovery of walking ability. Although full recovery has been reported people with severe weakness may take months to improve walking. Focused physical rehabilitation of people with ICU-acquired muscle weakness is therefore of great importance. However, although physical rehabilitation is common, detailed knowledge about the pattern and the time course of recovery of walking function are not well understood. Therefore, the aim of the General Weakness Syndrome Therapy (GymNAST) study is to describe the time course of recovery of walking function and other activities of daily living in these patients. Methods and analysis We conduct a prospective cohort study of people with ICU-acquired muscle weakness with defined diagnosis of CIM or CIP. Based on our sample size calculation, approximately 150 patients will be recruited from the ICU of our hospital in Germany. Amount and content of physical rehabilitation, clinical tests for example, muscle strength and motor function and neuropsychological assessments will be used as independent variables. The primary outcomes will include recovery of walking function and mobility. Secondary outcomes will include global motor function, activities in daily life and participation. Ethics and dissemination The study is being carried out in agreement with the Declaration of Helsinki and conducted with the approval of the local medical Ethics Committee (Landesrztekammer Sachsen, Germany, reference number EK-BR-32/13-1) and with the understanding and written consent of each patient's guardian. The results of this study will be published in peer-reviewed journals and disseminated to the medical society and general public. PMID:25344484

  10. 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

  11. 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.

  12. 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

  13. 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

  14. Country, Sex, EDSS Change and Therapy Choice Independently Predict Treatment Discontinuation in Multiple Sclerosis and Clinically Isolated Syndrome

    PubMed Central

    Jokubaitis, Vilija G.; Trojano, Maria; Izquierdo, Guillermo; GrandMaison, Franois; Oreja-Guevara, Celia; Boz, Cavit; Lugaresi, Alessandra; Girard, Marc; Grammond, Pierre; Iuliano, Gerardo; Fiol, Marcela; Cabrera-Gomez, Jose Antonio; Fernandez-Bolanos, Ricardo; Giuliani, Giorgio; Lechner-Scott, Jeannette; Cristiano, Edgardo; Herbert, Joseph; Petkovska-Boskova, Tatjana; Bergamaschi, Roberto; van Pesch, Vincent; Moore, Fraser; Vella, Norbert; Slee, Mark; Santiago, Vetere; Barnett, Michael; Havrdova, Eva; Young, Carolyn; Sirbu, Carmen-Adella; Tanner, Mary; Rutherford, Michelle; Butzkueven, Helmut

    2012-01-01

    Objectives We conducted a prospective study, MSBASIS, to assess factors leading to first treatment discontinuation in patients with a clinically isolated syndrome (CIS) and early relapsing-remitting multiple sclerosis (RRMS). Methods The MSBASIS Study, conducted by MSBase Study Group members, enrols patients seen from CIS onset, reporting baseline demographics, cerebral magnetic resonance imaging (MRI) features and Expanded Disability Status Scale (EDSS) scores. Follow-up visits report relapses, EDSS scores, and the start and end dates of MS-specific therapies. We performed a multivariable survival analysis to determine factors within this dataset that predict first treatment discontinuation. Results A total of 2314 CIS patients from 44 centres were followed for a median of 2.7 years, during which time 1247 commenced immunomodulatory drug (IMD) treatment. Ninety percent initiated IMD after a diagnosis of MS was confirmed, and 10% while still in CIS status. Over 40% of these patients stopped their first IMD during the observation period. Females were more likely to cease medication than males (HR 1.36, p?=?0.003). Patients treated in Australia were twice as likely to cease their first IMD than patients treated in Spain (HR 1.98, p?=?0.001). Increasing EDSS was associated with higher rate of IMD cessation (HR 1.21 per EDSS unit, p<0.001), and intramuscular interferon-?-1a (HR 1.38, p?=?0.028) and subcutaneous interferon-?-1a (HR 1.45, p?=?0.012) had higher rates of discontinuation than glatiramer acetate, although this varied widely in different countries. Onset cerebral MRI features, age, time to treatment initiation or relapse on treatment were not associated with IMD cessation. Conclusion In this multivariable survival analysis, female sex, country of residence, EDSS change and IMD choice independently predicted time to first IMD cessation. PMID:22768046

  15. Hyperbaric Oxygen Therapy Can Improve Post Concussion Syndrome Years after Mild Traumatic Brain Injury - Randomized Prospective Trial

    PubMed Central

    Fishlev, Gregori; Bechor, Yair; Volkov, Olga; Bergan, Jacob; Friedman, Mony; Hoofien, Dan; Shlamkovitch, Nathan; Ben-Jacob, Eshel; Efrati, Shai

    2013-01-01

    Background Traumatic brain injury (TBI) is the leading cause of death and disability in the US. Approximately 70-90% of the TBI cases are classified as mild, and up to 25% of them will not recover and suffer chronic neurocognitive impairments. The main pathology in these cases involves diffuse brain injuries, which are hard to detect by anatomical imaging yet noticeable in metabolic imaging. The current study tested the effectiveness of Hyperbaric Oxygen Therapy (HBOT) in improving brain function and quality of life in mTBI patients suffering chronic neurocognitive impairments. Methods and Findings The trial population included 56 mTBI patients 1–5 years after injury with prolonged post-concussion syndrome (PCS). The HBOT effect was evaluated by means of prospective, randomized, crossover controlled trial: the patients were randomly assigned to treated or crossover groups. Patients in the treated group were evaluated at baseline and following 40 HBOT sessions; patients in the crossover group were evaluated three times: at baseline, following a 2-month control period of no treatment, and following subsequent 2-months of 40 HBOT sessions. The HBOT protocol included 40 treatment sessions (5 days/week), 60 minutes each, with 100% oxygen at 1.5 ATA. “Mindstreams” was used for cognitive evaluations, quality of life (QOL) was evaluated by the EQ-5D, and changes in brain activity were assessed by SPECT imaging. Significant improvements were demonstrated in cognitive function and QOL in both groups following HBOT but no significant improvement was observed following the control period. SPECT imaging revealed elevated brain activity in good agreement with the cognitive improvements. Conclusions HBOT can induce neuroplasticity leading to repair of chronically impaired brain functions and improved quality of life in mTBI patients with prolonged PCS at late chronic stage. Trial Registration ClinicalTrials.gov NCT00715052 PMID:24260334

  16. 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

  17. Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

    PubMed

    Ponti, Giovanni; Tomasi, Aldo; Manfredini, Marco; Pellacani, Giovanni

    2016-05-10

    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers. PMID:26850131

  18. Effects of immunosuppressive therapy in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria (AA-PNH) syndrome during ongoing eculizumab treatment.

    PubMed

    Asano, Jin; Ueda, Ryosuke; Tanaka, Yasuhiro; Shinzato, Isaku; Takafuta, Toshiro

    2014-01-01

    A 65-year-old woman experienced a hemolytic attack triggered by sepsis. She presented with markedly increased CD55(-) CD59(-) erythrocytes and the signs of bone marrow failure, which led to a diagnosis of aplastic anemia-paroxysmal nocturnal hemoglobinuria (AA-PNH) syndrome. There was a possibility of increasing hemolysis, as large PNH clones remained after immunosuppressive therapy (IST). Accordingly, eculizumab was first used to control the hemolytic attack followed by IST with antithymocyte globulin and cyclosporine A. The patient was successfully weaned from blood transfusions and has been followed up without any recurrence of hemolytic attacks. PMID:24429452

  19. Long term prognosis of acute coronary syndrome with chronic renal dysfunction treated in different therapy units at department of cardiology: a retrospective cohort study

    PubMed Central

    Fu, Cong; Sheng, Zulong; Yao, Yuyu; Wang, Xin; Yu, Chaojun; Ma, Genshan

    2015-01-01

    Coronary care unit is common in hospitals and clinical centers which offer intensive care and therapy for severe coronary artery disease patients. However, if coronary care unit could improve the long term prognosis of acute coronary syndrome patients with renal dysfunction remain unknown. Accordingly, we designed this study to evaluate the differences of incidence of major adverse cardiovascular events for acute coronary syndromes patients with renal dysfunction who treated in coronary care unit or normal unit. The primary end point was all cause mortality. A total of 414 acute coronary syndromes patients with renal dysfunction involved in the study. The results showed that during 12-48 months follow-up, death of any cause occurred in 1.8% patients (4 of 247) in coronary care unit group, as compared with 1.8% in the normal group (3 of 167) (hazard ratio, 1.098; 95% confidence interval, 0.246 to 4.904; P=0.903). Kaplan-Meier survival analysis showed that there were no significant differences between the two groups with respect to the risk of death (P=0.903), revascularization (P=0.948), stroke (P=0.542), heart failure (P=0.198). This trial firstly revealed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit and normal units. Our study showed that acute coronary syndromes patients with renal dysfunction treated in coronary care unit obtained no significant benefits compared with patients in normal units, although there was a declining tendency of the risk of major adverse cardiovascular effectswith patients in coronary care unit.

  20. 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

  1. 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 providers 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

  2. Nephrotic syndrome.

    PubMed

    Andolino, Tecile Prince; Reid-Adam, Jessica

    2015-03-01

    On the basis of observational studies, the most common cause of nephrotic syndrome in school-aged children is minimal change disease. On the basis of research evidence and consensus, corticosteroids are considered first-line therapy for treatment of nephrotic syndrome. On the basis of consensus, prednisone therapy should be initiated at doses of 60 mg/m2 per day (2 mg/kg per day) administered for 4 to 6 weeks, followed by 40 mg/m2 per dose (1.5 mg/kg) every other day for at least 6 to 8 weeks. On the basis of consensus and expert opinion, it is important to recognize and manage the complications that can arise in patients with nephrotic syndrome, such as dyslipidemia, infection, and thrombosis. On the basis of research evidence, consensus, and expert opinion, several alternative therapies have been observed to have variable efficacy in children with both corticosteroid-dependent and corticosteroid-resistant nephrotic syndrome, although caution must be exercised in the administration of these corticosteroid-sparing medications secondary to toxic adverse effects. On the basis of observational studies, the course of nephrotic syndrome in most patients is that of relapse and remission. PMID:25733763

  3. 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

  4. Using a digital game for training desirable behavior in cognitive-behavioral therapy of burnout syndrome: a controlled study.

    PubMed

    Zielhorst, Thomas; van den Brule, Daphne; Visch, Valentijn; Melles, Marijke; van Tienhoven, Sam; Sinkbaek, Helle; Schrieken, Bart; Tan, Eduard S-H; Lange, Alfred

    2015-02-01

    Burnout is a globally increasing illness, and as a result, many forms of burnout therapy have arisen. The use of digital games can be psychotherapeutically effective because they can transform exercises that are by themselves unattractive into intrinsically motivated action. This pilot study aims to test whether a specially designed game contributes to patients learning desired behavior and achieving other specific therapeutic goals in an online cognitive-behavioral therapy (CBT)-based burnout treatment context. In total, 101 participants took part in the experiment, under four conditions: (a) Game+Therapy, (b) Therapy Only, (c) Game Only, and (d) No Game+No Therapy. Pre- and postmeasures were taken online. Results showed that the two therapy conditions (Game+Therapy and Therapy Only) showed a greater decrease in complaints and disengagement, and a stronger increase in coping skills than the nontherapy conditions (Game Only and No Game+No Therapy). As expected, the Game+Therapy condition outperformed the Therapy Only condition on combined improvement measures of burnout symptoms. However, analyses of individual measures showed no effects. It can be cautiously concluded that the therapeutic digital game may be a useful tool when embedded in a therapeutic burnout treatment program and is probably more efficient than CBT, as it is used in current practice. PMID:25684611

  5. Detection of the Metabolic Syndrome in Schizophrenia and Implications for Antipsychotic Therapy: Is There a Role for Folate?

    PubMed Central

    Burghardt, Kyle J; Ellingrod, Vicki L

    2014-01-01

    In general, presence of the metabolic syndrome is associated with significant cardiovascular mortality and represents a growing public health concern in the United States. Patients with a schizophrenia have a three times greater risk of death compared to the general population, with cardiovascular disease being the most common cause of this mortality. Use of the atypical antipsychotics (AAPs) to treat schizophrenia contributes significantly to this cardiovascular disease risk. While currently several different clinical guidelines exist to monitor for the metabolic consequences of AAP use, implementation is lacking. Due to the under monitoring of side effects and the lack of alternative treatment choices in schizophrenia, research has focused on the identification of various biomarkers and pharmacogenomic targets to focus on those at greatest risk for metabolic syndrome, thus aiming to increase the efficacy and minimize the side effects of the AAPs. This has led to several different lines of research. This manuscript focuses on summarizing the differing metabolic syndrome criteria, monitoring guidelines for AAPs and the role of folic acid as it relates to metabolic syndrome within the schizophrenia population. It will concentrate not only on the pharmacogenomics of folic acid metabolism, but also its epigenetic interaction with the environment. From this work, genetic variation within both the methylenetetrahydrofolate reductase (MTHFR) and catechol-o-methyl transferase (COMT) genes has been associated with increased metabolic syndrome risk in schizophrenia patients treated with AAPs. Furthermore, the combination of folate pharmacogenetics and epigenetics has uncovered relationships between methylation, schizophrenia disease, treatment type and metabolic syndrome. Despite the several areas of biomarker research for schizophrenia related metabolic syndrome, translation to the clinical setting is still lacking and further studies are needed to bridge this gap. Future folate supplementation research may prove to be an easy and effective clinical tool for the prevention and/or treatment of metabolic syndrome associated with AAP treatment, but clearly more work needs to be done in this area. PMID:23341251

  6. 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

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

    2015-08-01

    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 20dB 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

  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. Fluvastatin in the therapy of acute coronary syndrome: Rationale and design of a multicenter, randomized, double-blind, placebo-controlled trial (The FACS Trial)[ISRCTN81331696

    PubMed Central

    Ostadal, Petr; Alan, David; Hajek, Petr; Vejvoda, Jiri; Mates, Martin; Blasko, Peter; Veselka, Josef; Kvapil, Milan; Kettner, Jiri; Wiendl, Martin; Aschermann, Ondrej; Slaby, Josef; Nemecek, Eduard; Holm, Frantisek; Rac, Marek; Macek, Milan; Cepova, Jana

    2005-01-01

    Background Activation of inflammatory pathways plays an important contributory role in coronary plaque instability and subsequent rupture, which can lead to the development of acute coronary syndrome (ACS). Elevated levels of serum inflammatory markers such as C-reactive protein (CRP) represent independent risk factors for further cardiovascular events. Recent evidence indicates that in addition to lowering cholesterol levels, statins also decrease levels of inflammatory markers. Previous controlled clinical trials reporting the positive effects of statins in participants with ACS were designed for very early secondary prevention. To our knowledge, no controlled trials have evaluated the potential benefits of statin therapy, beginning immediately at the time of hospital admission. A previous pilot study performed by our group focused on early initiation of cerivastatin therapy. We demonstrated a highly significant reduction in levels of inflammatory markers (CRP and interleukin-6). Based on these preliminary findings, we are conducting a clinical trial to evaluate the efficacy of another statin, fluvastatin, as an early intervention in patients with ACS. Methods The FACS-trial (Fluvastatin in the therapy of Acute Coronary Syndrome) is a multicenter, randomized, double-blind, placebo-controlled study evaluating the effects of fluvastatin therapy initiated at the time of hospital admission. The study will enroll 1,000 participants admitted to hospital for ACS (both with and without ST elevation). The primary endpoint for the study is the influence of fluvastatin therapy on levels of inflammatory markers (CRP and interleukin-6) and on pregnancy associated plasma protein A (PAPP-A). A combined secondary endpoint is 30-day and one-year occurrence of death, nonfatal myocardial infarction, recurrent symptomatic ischemia, urgent revascularization, and cardiac arrest. Conclusion The primary objective of the FACS trial is to demonstrate that statin therapy, when started immediately after hospital admission for ACS, results in reduction of inflammation and improvement of prognosis. This study may contribute to new knowledge regarding therapeutic strategies for patients suffering from ACS and may offer additional clinical indications for the use of statins. PMID:15790413

  9. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  10. Treatment Options for Myelodysplastic Syndromes

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  11. General Information about Myelodysplastic Syndromes

    MedlinePLUS

    ... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

  12. 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.

  13. Syndromic Scoliosis

    MedlinePLUS

    ... Neurofibromatosis (NF) Noonan Syndrome VATER/VACTERL Syndrome Angelman Syndrome Rett Prader Willi Osteogenesis Imperfecta Trisomy 21 (Down's Syndrome) Symptoms Highly variable based on underlying syndrome and ...

  14. Efficacy and safety of individually tailored antiplatelet therapy in patients with acute coronary syndrome after coronary stenting: a single center, randomized, feasibility study

    PubMed Central

    Zhu, Hong-Chang; Li, Yi; Guan, Shao-Yi; Li, Jing; Wang, Xiao-Zeng; Jing, Quan-Min; Wang, Zu-Lu; Han, Ya-Ling

    2015-01-01

    Background Low responsiveness to clopidogrel (LRC) is associated with increased risk of ischemic events. This study was aimed to explore the feasibility of tailored antiplatelet therapy according to the responsiveness to clopidogrel. Methods A total of 305 clopidogrel naïve patients with acute coronary syndromes (ACS) undergoing coronary stenting were randomly assigned to receive standard (n = 151) or tailored (n = 154) antiplatelet therapy. The ADP-induced platelet aggregation tests by light transmission aggregometry were performed to identify LRC patients assigned to the tailored group. The standard antiplatelet regimen was dual antiplatelet therapy with aspirin and clopidogrel. The tailored antiplatelet therapy was standard regimen for non-LRC patients and an additional 6-month cilostazol treatment for LRC patients. The primary efficacy outcome was the composite of cardiovascular death, myocardial infarction or stroke at one year. Results LCR was present in 26.6% (41/154) of patients in the tailored group. The percentage platelet aggregation for LCR patients was significantly decreased at three days after adjunctive cilostazol treatment (77.5% ± 12.1% vs. 64.5% ± 12.1%, P < 0.001). At one year follow-up, a non-significant 37% relative risk reduction of primary events were observed in the tailored group as compared to the standard group (5.8% vs. 9.3%, P = 0.257). There were no differences in the rates of stent thrombosis and hemorrhagic events between the two groups. Conclusions Tailored antiplatelet therapy for ACS patients after coronary stenting according to responsiveness to clopidogrel is feasible. However, its efficacy and safety need further confirmation by clinical trials with larger sample sizes. PMID:25678901

  15. [Position paper of the Italian Society of Interventional Cardiology (SICI-GISE): antithrombotic therapy in elderly patients with acute coronary syndrome].

    PubMed

    Tarantini, Giuseppe; Berti, Sergio; De Luca, Leonardo; De Servi, Stefano; Favero, Luca; Ferlini, Marco; La Manna, Alessio; Marchese, Alfredo; Mauro, Ciro; Menozzi, Alberto; Mojoli, Marco; Paradies, Valeria; Varbella, Ferdinando; Musumeci, Giuseppe

    2016-01-01

    With the ageing of the population in the Western world, an increasing proportion of patients seen in cardiology practice is represented by the elderly. Although approximately one third of patients admitted with acute coronary syndrome (ACS) are >75 years old and the mortality rate in this age group is doubled compared with younger patients, this population is underrepresented in randomized controlled trials and, consequently, clinical guidelines do not always provide clear indications for the management of elderly patients. Therefore, there is an unmet need for clinical guidance regarding this rapidly growing subset of ACS patients, also considering that decisions about optimal antithrombotic treatment strategies in the elderly are often challenging, mostly due to age-related organ dysfunction, the frequency of comorbidities and concomitant medications and an increased risk of both ischemic and bleeding events. A panel of Italian cardiology experts assembled under the auspices of the Italian Society of Interventional Cardiology (SICI-GISE) for comprehensive discussion and consensus development, with the aim to provide practical recommendations, for both clinical and interventional cardiologists, regarding optimal management of antithrombotic therapy in patients with ACS aged ?75 years. In this position paper, various clinical scenarios in patients with ST-elevation and non-ST-elevation myocardial infarction or unstable angina are presented and discussed, including special subsets (e.g., patients aged ?85 years, patients with chronic renal disease or previous cerebrovascular events, patients requiring triple therapy or long-term antithrombotic therapy), with the panel's recommendations being provided for each scenario. PMID:26901262

  16. Is there a need for "triple therapy"? Role of anticoagulation with dual antiplatelet therapy in acute coronary syndromes (ATLAS Study & TRAP Study).

    PubMed

    Patrick, William L; Patel, Charmaine; Guddeti, Raviteja; Narayan, Aarti; Maddaleni, Michael; Kumar, Shankar; Dolma, Kalsang; Serla, Vishnu Vardhan; Sangha, Maheep; Govindavarjhulla, Aditya; Saddala, Prashanth; Singh, Priyamvada; Halaby, Rim; Gibson, C Michael

    2013-10-01

    In the past two decades there has been a succession of advances in the development of anticoagulant and antiplatelet therapies to be used in the treatment of ACS. Despite optimal dual antiplatelet therapy, nearly 10-12% of patients still face a risk of death or myocardial infarction one year following PCI. This large residual risk provides the impetus for the development of more effective strategies. Dual pathway regimens that combine antiplatelets (aspirin and a thienopyridine), along with an anticoagulant such as rivaroxaban may prove to be a therapeutic option in patients with ACS. PMID:24022544

  17. Exercise, Sports and Tourette Syndrome

    MedlinePLUS

    ... Educators Education Rights Discipline Advocacy Accommodations & Therapies Diagnosis & Treatment Find a Doctor What is Tourette Syndrome Comprehensive Behavioral Intervention for Tics (CBIT) Deep Brain ...

  18. Cognitive Behavior Therapy for Social Anxiety Disorder in the Context of Asperger's Syndrome: A Single-Subject Report

    ERIC Educational Resources Information Center

    Cardaciotto, LeeAnn; Herbert, James D.

    2004-01-01

    Asperger's Syndrome (AS) is a developmental disorder characterized by social impairment, highly circumscribed interests, repetitive behaviors, and motor clumsiness. The social impairment features of AS are similar to characteristics of social anxiety disorder (SAD). However, little is known about the comorbidity of these disorders or the treatment

  19. Gene therapy for Wiskott-Aldrich SyndromeLong-term reconstitution and clinical benefits, but increased risk for leukemogenesis

    PubMed Central

    Braun, Christian Joerg; Witzel, Maximilian; Paruzynski, Anna; Boztug, Kaan; von Kalle, Christof; Schmidt, Manfred; Klein, Christoph

    2014-01-01

    Wiskott-Aldrich-Syndrome (WAS) is a rare X-linked recessive disease caused by mutations of the WAS gene. It is characterized by immunodeficiency, autoimmunity, low numbers of small platelets (microthrombocytopenia) and a high risk of cancer, especially B cell lymphoma and leukemia.

  20. How to design a therapeutic study in patients with the post-polio syndrome. Methodological concerns and status of present therapies.

    PubMed

    Dalakas, M C

    1995-05-25

    The innervation of muscles in patients with the post-polio syndrome (PPS) may differ from limb to limb or even within the same limb because of the segmental nature of the initial involvement and the varying degree of subsequent recovery. Consequently, the compensatory effort of the neighboring muscles varies even in the same limb. Clinicohistological studies have confirmed that in PPS the various muscle groups differ according to whether they were affected during the acute polio and have recovered (partially or completely), or whether they were clinically spared during the original disease, in spite of subclinical involvement. Because the impact of the late effects of polio is also variable in these muscle groups, the effect of therapies may be different not only from patient to patient and from limb to limb, but also from muscle to muscle within the same limb. These variables require careful statistical determination of the sample size at the design of a trial. Another problematic issue in the therapy of PPS is to define the end point of therapy. The two disabling PPS symptoms, excessive fatigue and new muscle weakness, can coexist. An experimental therapeutic design must focus separately on the fatigue, using validated fatigue scales, and on muscle weakness, using quantitative muscle testing. Another methodological concern is the placebo-controlled design. Patients with PPS, even those without depression, can be prone to a placebo effect; hence the need for controlled trials. Finally, the length of a trial remains unresolved because of the slow and unpredictable progression of PPS that varies from patient to patient. Until the natural history of PPS is defined, therapies aimed at arresting disease progression are not reliable. PMID:7611640

  1. Developmental profiles in young children with Prader-Labhart-Willi syndrome: effects of weight and therapy with growth hormone or coenzyme Q10.

    PubMed

    Eiholzer, Urs; Meinhardt, Udo; Rousson, Valentin; Petrovic, Nelica; Schlumpf, Michael; l'Allemand, Dagmar

    2008-04-01

    Muscle hypotonia and failure to thrive are key symptoms of Prader-Willi syndrome (PWS) allowing diagnosis during infancy already. Improved general care as well as Coenzyme Q(10) (CoQ(10)) and growth hormone (GH) are administered to improve PWS children's outcome. This study aims to investigate psychomotor development of young PWS children in relation to body weight and body composition at baseline as well as to the effects of GH or CoQ(10) therapy. Twenty-six young children (age 1.0 +/- 0.1 years, mean +/- SEM) with PWS genetically proven at age 0.1 +/- 0.1 years (17 deletions, 8 maternal disomy) were divided into three groups: Group 1 on GH therapy (started in 1994-1996, 6 mg/kg/week) tolerating low body weight (<50th centile), group 2 on GH (1997-2000) and group 3 on CoQ(10) (2001-2002, 2.5 mg/kg/day orally), both combined with active early weight management to achieve weight >50th centile. Anthropometry, body composition and Griffith's developmental scores (DQs) were assessed before therapy and after 12 months. DQs were not related to infants' weight, lean mass or genetic background. DQs improved significantly with chronological age and were best in the most recently diagnosed group. Improved psychomotor development, mainly due to progress in locomotor development, did not differ between GH and CoQ(10) treated groups. In conclusion, while only GH has significant effects on growth and body composition, GH and CoQ(10) therapy act equally on psychomotor development of PWS infants. However, improving psychomotor development may merely reflect an age-related phenomenon additionally depending on early diagnosis and introduction of appropriate care. PMID:18257095

  2. 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

  3. 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).

  4. 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.

  5. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

    PubMed Central

    Lacro, Ronald V.; Guey, Lin T.; Dietz, Harry C.; Pearson, Gail D.; Yetman, Anji T.; Gelb, Bruce D.; Loeys, Bart L.; Benson, D. Woodrow; Bradley, Timothy J.; De Backer, Julie; Forbus, Geoffrey A.; Klein, Gloria L.; Lai, Wyman W.; Levine, Jami C.; Lewin, Mark B.; Markham, Larry W.; Paridon, Stephen M.; Pierpont, Mary Ella; Radojewski, Elizabeth; Selamet Tierney, Elif Seda; Sharkey, Angela M.; Wechsler, Stephanie Burns; Mahony, Lynn

    2013-01-01

    Background The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects. Methods and results Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface area–adjusted aortic root diameter z-score >3.0. The mean age at study entry was 11.2 years, 60% were male, and 25% were older teenagers and young adults. The median aortic root diameter z-score was 4.0. Aortic root diameter z-score did not vary with age. Mitral valve prolapse and mitral regurgitation were more common in females. Among those with a positive family history, 56% had a family member with aortic surgery, and 32% had a family member with a history of aortic dissection. Conclusions Baseline demographic, clinical, and anthropometric characteristics of the randomized cohort are representative of patients in this population with moderate to severe aortic root dilation. The high percentage of young subjects with relatives who have had aortic dissection or surgery illustrates the need for more definitive therapy; we expect that the results of the study and the wealth of systematic data collected will make an important contribution to the management of individuals with Marfan syndrome. PMID:23622922

  6. Neuroacanthocytosis Syndromes

    PubMed Central

    2011-01-01

    Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntingtons disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades. PMID:22027213

  7. [Development of compartment syndrome after intravenous administration of an X-ray contrast medium. Recommendations on acute therapy regimens].

    PubMed

    Hawi, N; Citak, M; Liodakis, E; Petri, M; Haasper, C; Krettek, C; Meller, R

    2014-04-01

    The incidence of extravasation of contrast medium is reported in the literature to be between 0.2?% and 0.9%. A rare consequence of this could be compartment syndrome of the affected limb which requires immediate treatment.We report the case of a patient who developed acute compartment syndrome of the forearm after intravenous injection of radiographic contrast medium in a radiovolar vein during a computed tomography (CT) scan for multiple trauma. The clinical symptoms with pain, loss of range of motion and sensitivity functions, measurement of compartment pressure and radiological images confirmed the diagnosis. After emergency dermatofasciotomy of the forearm the full range of motion and sensitivity functions could be restored. PMID:23652930

  8. Improvement in lacrimal and salivary secretions after alkali therapy in Sjøgren's syndrome with renal tubular acidosis.

    PubMed Central

    Flynn, C T; Negus, T W; McHardy, J; Rainford, D J

    1976-01-01

    A patient with Sjøgren's syndrome developed renal tubular acidosis which led to systemic acidosis and potassium depletion. Treatment with Shohl's solution and potassium supplements was followed by subjective improvement in tear flow, salivary flow, and by disappearance of bronchitic symptoms. Detailed objective assessments were then made during the next year, twice on treatment and twice without. These confirmed the subjective impression of improvement. PMID:970999

  9. 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

  10. Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy.

    PubMed

    Arslan, Mutluay; Yi?, Ulu; Vurucu, Sebahattin; Ince, Semra; nay, Blent; Ak?n, R?dvan

    2012-09-01

    We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months after the initial diagnosis, she presented with speech deterioration and dysarthria. At this time, although sleep and awake electroencephalography (EEG) were normal, FDG-PET showed hypometabolic and hypermetabolic regions in the anterior/inferior and anterior regions of the right frontal lobe, respectively. By increasing before levetiracetam dosage to 50 mg/kg/day, the clinical findings resolved and the patient is still seizure free. Acquired epileptiform opercular syndrome is a rare epileptic disorder in which the seizures are resistant to conventional antiepileptic drugs. Levetiracetam may be an effective antiepileptic drug in controlling seizures and other clinical findings in acquired opercular epileptiform syndrome. Hypometabolic and hypermetabolic regions in FDG-PET study may be due to ongoing seizure activity or impaired glucose metabolism in this disorder. PMID:22980081

  11. 3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy

    PubMed Central

    Afandi, O; Attia, S; Fatih, A El

    2015-01-01

    Summary 3-M syndrome is a rare autosomal recessive disorder caused by mutations in the CUL7, OBSL1 and CCDC8 genes. It is characterised by growth failure, dysmorphic features and skeletal abnormalities. Data in the literature show variable efficacy of GH in the treatment of short stature. We report four Emirati siblings with the condition. The index case is a 10-year-old boy with characteristic features, including prenatal and postnatal growth failure, a triangular face, a long philtrum, full lips and prominent heels. Genetic testing confirmed a novel mutation (p.val88Ala) in the CUL7 gene. The parents are healthy, first-degree cousins with nine children, of whom two died in the first year of life with respiratory failure. Both had low birth weight and growth retardation. The boy's older sibling reached an adult height of 117 cm (−6.71 SDS). She was never treated with GH. He was started on GH treatment at 7 years of age, when his height was 94 cm (−5.3 SDS). 3-M syndrome should be considered in children with short stature who have associated dysmorphism and skeletal abnormalities. The diagnosis is more likely to occur in families that have a history of consanguinity and more than one affected sibling. Death in early infancy due to respiratory failure is another clue to the diagnosis, which might have a variable phenotype within a family. Genetic testing is important for confirming the diagnosis and for genetic counselling. GH treatment might be beneficial in improving stature in affected children. Learning points 3-M syndrome should be considered in families that have more than one sibling with short stature, particularly if there is consanguinity.Syndrome phenotype might be variable within a family with the same mutation.Genetic analysis is helpful in confirming diagnosis in the presence of variable siblings' phenotype.GH treatment might be useful in improving stature in 3-M syndrome. PMID:25945256

  12. Isoniazid-resistant Mycobacterium kansasii in an HIV-positive patient, and possible development of immune reconstitution inflammatory syndrome after initiation of highly active antiretroviral therapy: case report.

    PubMed

    Despotovic, A; Savic, B; Salemovic, D; Ranin, J; Jevtovic, Dj

    2016-01-01

    Non-tuberculous mycobacteria are rare but important causes of infection in HIV-positive individuals. A 28-year-old HIV-positive male presented with a high fever, non-productive cough, right subcostal pain, splenomegaly, a very low CD4 count, elevated C-reactive protein and erythrocyte sedimentation rate, and a normal white blood cell count. The suspicion of tuberculosis (TB) was very high, and sputum samples were positive for acid-fast bacilli. Standard quadruple anti-TB therapy was initiated, but once culture of the sample revealed Mycobacterium kansasii, pyrazinamide was withdrawn. Highly active antiretroviral therapy (HAART) was initiated soon after, consisting of abacavir/lamivudine and efavirenz. The patient's general condition deteriorated 2 weeks after HAART initiation, which could have been due to the development of immune reconstitution inflammatory syndrome (IRIS). The patient recovered and was discharged in good condition. However, the results of resistance testing of the isolated organism arrived after discharge, and showed isoniazid and streptomycin resistance. This is the first case report of M. kansasii infection from Serbia and shows the difficulties encountered during the course of treatment. PMID:26603644

  13. 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

  14. Identification of disease- and therapy-associated proteome changes in the sera of patients with myelodysplastic syndromes and del(5q).

    PubMed

    Chen, C; Bowen, D T; Giagounidis, A A N; Schlegelberger, B; Haase, S; Wright, E G

    2010-11-01

    Using ProteinChip array technology, which is based on the surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, we performed proteomic analyses on sera from myelodysplastic syndromes (MDSs) patients with an interstitial deletion of the long arm of chromosome 5 (del(5q)) and those from control individuals. One analysis with 80 samples from 29 patients and 51 control subjects resulted in the detection of 61 peak differences. Another analysis with 36 paired-samples from 18 patients collected before and after the treatment with lenalidomide (Revlimid) identified 19 differential peak features. We also observed differential profiles between the pre-treatment samples from the responders and those from the non-responders reflected by eight peak differences. On the basis of these data we developed two classification models that could distinguish between the diseased and the control subjects or between the responders and the non-responders. Efforts were made to purify and identify a range of differential peak proteins. We conclude that inter-? trypsin inhibitor, heavy chain H4 (fragments), serum transferrin, transthyretin (variants), haemoglobin and a protein peak at m/z 2791 could be potential disease-associated markers for del(5q) MDS. Platelet factor 4 (PF-4) and a peak at m/z 8559 may serve as therapy-associated markers and be potentially useful for monitoring and predicting the response to therapy. PMID:20739954

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

    PubMed Central

    2014-01-01

    Background Primary Sjgrens 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

  16. Comparison of shock wave therapy and nutraceutical composed of Echinacea angustifolia, alpha lipoic acid, conjugated linoleic acid and quercetin (perinerv) in patients with carpal tunnel syndrome.

    PubMed

    Notarnicola, Angela; Maccagnano, Giuseppe; Tafuri, Silvio; Fiore, Alessandra; Pesce, Vito; Moretti, Biagio

    2015-06-01

    Even though the initial treatment of carpal tunnel syndrome (CTS) is conservative, knowledge of the clinical effects of supplements and of some methods of physiotherapy is still preliminary. Many biological mechanisms can support the administration of shock wave therapy (ESWT) or of alpha lipoic acid (ALA) based nutraceutical, conjugated linoleic acid (GLA), anti-oxidants and Echinacea angustifolia for CTS. The shock waves reduce the nerve compression, produce an anti-inflammatory action, and accelerate the regeneration of neuropathy. ALA and GLA induce antioxidant protective actions, reduce inflammation, promote neuroregeneration, and decrease pain. The Echinacea modulates the endogenous cannabinoid system.The aim of study is to verify the efficiency of shock wave therapy versus nutraceutical composed of ALA, GLA, and Echinacea in CTS. Sixty patients were enrolled in this study and they were randomly assigned to one of two treatments. Both groups showed significant improvements in pain, symptoms' severity and functional scores, and electrodiagnostic results until the sixth month. We verified a trend to a better pain regression in the nutraceutical group. The presence of the medicinal Echinacea represents an added value to the antioxidant effect in ALA and GLA, which can justify this result. ESWT or the association of ALA, GLA, and Echinacea proved to be two effective treatments for controlling symptoms and improving the evolution of CTS. PMID:25953494

  17. Klippel-Feil Syndrome

    MedlinePLUS

    ... Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful. What is ...

  18. Resistance to Rituximab Therapy and Local BAFF Overexpression in Sjgrens Syndrome-Related Myoepithelial Sialadenitis and Low-Grade Parotid B-Cell Lymphoma

    PubMed Central

    Quartuccio, Luca; Fabris, Martina; Moretti, Massimo; Barone, Francesca; Bombardieri, Michele; Rupolo, Maurizio; Lombardi, Sandra; Pitzalis, Costantino; Beltrami, Carlo Alberto; Curcio, Francesco; De Vita, Salvatore

    2008-01-01

    Objective B-cell expansion is a key feature of Sjgrens syndrome (SS). Accordingly, several studies have reported the benefits of B-cell depletion with anti-CD20 monoclonal antibody (Rituximab) in the treatment of glandular and extraglandular manifestations of SS. Patients with SS are at increased risk of lymphoma development. B-lymphocyte stimulator (BAFF) is an essential cytokine for the control of B-cell maturation and survival, and high levels of BAFF were described in the serum and salivary glands of SS patients, strongly suggesting a crucial role in the proliferation of B cells in SS. Patient and Methods We describe the treatments employed, with particular regards to rituximab therapy, and the histopathologic and biologic studies, in particular BAFF levels in serum and in pathologic tissues before and after B-cell depletion therapy, and the characterization of the cultured epithelial cells obtained by the parotid gland MALT-lymphoma, in a case of a 51-year old woman with primary SS and mixed cryoglobulinaemia type II with features of systemic vasculitis, who developed a bilateral parotid MALT-type lymphoma. Rheumatoid factor (RF), cryoglobulins, BAFF levels were assessed monthly up to month +6, then at the end of follow-up (month +12), as well as peripheral blood CD19-positive B-cell level Results A significant systemic effect of rituximab on B-cell biomarkers was documented, however, the cryoglobulinemic syndrome did not improve and the parotid enlargement did not decrease confirming the failure of B-cell depletion to affect the parotid lymphoma. BAFF levels decreased only under B-cell depletion associated with high-dose steroids. Tissue studies further documented the persistent overexpression of BAFF in the salivary gland pathologic tissue during the disease course. Conclusion Tissue and systemic overexpression of BAFF may have contributed to resistance to rituximab therapy, in MALT lymphoproliferation associated with SS. Thus, alternative treatment strategies should be then considered, possibly including BAFF-targeted approaches. PMID:19088870

  19. Feasibility, safety, clinical, and laboratory effects of convalescent plasma therapy for patients with Middle East respiratory syndrome coronavirus infection: a study protocol.

    PubMed

    Arabi, Yaseen; Balkhy, Hanan; Hajeer, Ali H; Bouchama, Abderrezak; Hayden, Frederick G; Al-Omari, Awad; Al-Hameed, Fahad M; Taha, Yusri; Shindo, Nahoko; Whitehead, John; Merson, Laura; AlJohani, Sameera; Al-Khairy, Khalid; Carson, Gail; Luke, Thomas C; Hensley, Lisa; Al-Dawood, Abdulaziz; Al-Qahtani, Saad; Modjarrad, Kayvon; Sadat, Musharaf; Rohde, Gernot; Leport, Catherine; Fowler, Robert

    2015-01-01

    As of September 30, 2015, a total of 1589 laboratory-confirmed cases of infection with the Middle East respiratory syndrome coronavirus (MERS-CoV) have been reported to the World Health Organization (WHO). At present there is no effective specific therapy against MERS-CoV. The use of convalescent plasma (CP) has been suggested as a potential therapy based on existing evidence from other viral infections. We aim to study the feasibility of CP therapy as well as its safety and clinical and laboratory effects in critically ill patients with MERS-CoV infection. We will also examine the pharmacokinetics of the MERS-CoV antibody response and viral load over the course of MERS-CoV infection. This study will inform a future randomized controlled trial that will examine the efficacy of CP therapy for MERS-CoV infection. In the CP collection phase, potential donors will be tested by the enzyme linked immunosorbent assay (ELISA) and the indirect fluorescent antibody (IFA) techniques for the presence of anti-MERS-CoV antibodies. Subjects with anti-MERS-CoV IFA titer of?1:160 and no clinical or laboratory evidence of MERS-CoV infection will be screened for eligibility for plasma donation according to standard donation criteria. In the CP therapy phase, 20 consecutive critically ill patients admitted to intensive care unit with laboratory-confirmed MERS-CoV infection will be enrolled and each will receive 2 units of CP. Post enrollment, patients will be followed for clinical and laboratory outcomes that include anti-MERS-CoV antibodies and viral load. This protocol was developed collaboratively by King Abdullah International Medical Research Center (KAIMRC), Gulf Cooperation Council (GCC) Infection Control Center Group and the World Health Organization-International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC-WHO) MERS-CoV Working Group. It was approved in June 2014 by the Ministry of the National Guard Health Affairs Institutional Review Board (IRB). A data safety monitoring board (DSMB) was formulated. The study is registered at http://www.clinicaltrials.gov (NCT02190799). PMID:26618098

  20. 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

  1. 18p- syndrome and hypopituitarism.

    PubMed Central

    Artman, H G; Morris, C A; Stock, A D

    1992-01-01

    A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to benefit from growth hormone therapy. Patients with this syndrome who have growth deficiency should be considered for evaluation for hypopituitarism, if the quality of their lives would improve with an increase in stature. Images PMID:1404301

  2. 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 3months. 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

  3. Genetic Abnormality May Explain Health Complications of Down Syndrome

    MedlinePLUS

    ... More Health News on: Down Syndrome Genes and Gene Therapy Recent Health News Related MedlinePlus Health Topics Down Syndrome Genes and Gene Therapy About MedlinePlus Site Map FAQs Contact Us Get ...

  4. Syndromic Disorders with Short Stature

    PubMed Central

    ??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. 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

  6. Optimizing an Aversion Feeding Therapy Protocol for a Child with Food Protein-Induced Enterocolitis Syndrome (FPIES)

    PubMed Central

    Mattingly, Rhonda; Mukkada, Vincent; Smith, Alan; Pitts, Teresa

    2015-01-01

    This case study examines the difficulties of treating food aversion in a 9-month old child with a diagnosis of Food Protein-Induced Enterocolitis Syndrome (FPIES). Given the need to first identify a set of “safe foods” with which to work, the twin goals of doing food challenges and minimizing aversion are initially not complimentary, and require an approach outside the standard of care. The chosen plan encouraged flexibility and a positive relationship with feeding-related items, while only introducing one food item at a time. Mom and child accomplished goals surrounding food play easily. She has successfully introduced a wide variety of new foods in small quantities and is currently working on reducing dependence on breast milk. Therapists must be prepared to modify currently accepted interventions to accommodate and support the required medical intervention. PMID:26779390

  7. Persistence and selection of an expanded B-cell clone in the setting of rituximab therapy for Sjgrens syndrome

    PubMed Central

    2014-01-01

    Introduction Subjects with primary Sjgrens 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

  8. Reversible posterior leukoencephalopathy syndrome following combinatorial cisplatin and pemetrexed therapy for lung cancer in a normotensive patient: A case report and literature review

    PubMed Central

    XIE, CHANGQING; JONES, VOVANTI T.

    2016-01-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare neurological syndrome of the brain, causing symptoms such as headaches, seizures, altered mental status and visual disturbances. The condition is predominantly associated with hypertension, eclampsia, renal impairment, cytotoxic drugs, immunosuppressive agents and molecular targeted agents, but the precise underlying mechanism of RPLS is not fully understood. The present study describes the case of a 65-year-old female patient with stage IIA non-small cell lung cancer who received cisplatin/pemetrexed treatment at the Leo W. Jenkins Cancer Center. Following 3 cycles of this therapy, the patient was referred to the Emergency Department of Vidant Medical Center with an altered mental status, subsequently presenting with epileptic seizures, a fever and a headache. A neurological examination revealed generalized hyperreflexia and paraparesis, with extensor posturing of the bilateral lower extremities. The lumbar puncture and electroencephalography results were normal, but cranial computed tomography (CT) scans revealed attenuation abnormalities in the bilateral parietal region and the left occipital lobe, with suspected metastasis. Cranial T2-weighted magnetic resonance imaging (MRI) indicated bilateral regions of increased signal intensity in the occipital, temporal and periventricular white matter. The patient was treated with anticonvulsants, steroids and antihypertensive drugs, recovered gradually from the symptoms and regained full consciousness. However, the patient reported residual weakness, presenting with an Eastern Cooperative Oncology Group score of 3, reflective of an inability to independently perform daily activities and self-care. A brain MRI performed 10 days later demonstrated that the subcortical edema had partially subsided. The patient was discharged on day 15 post-admission. A follow-up cranial CT examination 1 month later indicated a partial resolution of the abnormalities. The present report reviews similar associated cases, and also discusses the clinical features and mechanisms underlying RPLS. Although it is typically reversible, RPLS is a serious and potentially life-threatening adverse condition if left untreated. Early recognition of this condition is crucial for the prompt control of the patient's blood pressure or withdrawal of cytotoxic drugs in order to reverse this syndrome.

  9. 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 Clnicas, Faculty of Medicine, University of So 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

  10. Cost-effectiveness of long-term intrathecal morphine therapy for pain associated with failed back surgery syndrome.

    PubMed

    de Lissovoy, G; Brown, R E; Halpern, M; Hassenbusch, S J; Ross, E

    1997-01-01

    A decision analytic study was conducted using computer simulation to project the outcomes in a simulated cohort of patients whose treatment for back surgery had failed. The objective of this study was to estimate the direct cost of intrathecal morphine therapy (IMT) delivered via an implantable pump relative to alternative therapy (medical management) over a 60-month course of treatment. IMT administered by way of an implantable pump can provide effective pain relief for selected patients whose less invasive treatment modalities have failed. Previous research suggested that a pump implant is less costly than alternative methods providing comparable analgesia for treatment exceeding 12 to 18 months. However, those analyses did not include the cost of complications or pump replacement. Scenarios representing the course of IMT, devised by a panel of experts, were represented as treatment pathways in a Monte Carlo simulation. Adverse event rates were drawn from published data supplemented by expert judgment. Direct costs were based on a health insurer paid claims perspective (direct costs) discounted at a 5% annual rate. The cost-effectiveness of IMT was calculated based on a report of 65% to 81% "good to excellent" pain relief relative to alternative (medical) management. With both adverse event probabilities and costs set at most likely (base case) values, the expected total cost of IMT over 60 months was $82,893 (an average of $1382 per month). In a sensitivity analysis, the best case (low adverse event rate, low cost) estimate was $53,468 ($891/mo), whereas the worst case (high adverse event rate, high cost) estimate was $125,102 ($2085/mo). Cost-effectiveness estimates ranged from $7212 (best case) to $12,276 (worst case) per year of pain relief. Results from a computer simulation designed to collect the costs not included in previous empiric research indicate that IMT appears to be cost-effective when compared with alternative (medical) management for selected patients when the duration of therapy exceeds 12 to 22 months. PMID:9083712

  11. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  12. Early Surfactant Therapy With Nasal Continuous Positive Airway Pressure or Continued Mechanical Ventilation in Very Low Birth Weight Neonates With Respiratory Distress Syndrome

    PubMed Central

    Najafian, Bita; Fakhraie, Seyed Hasan; Afjeh, Seyed Abulfazl; Kazemian, Mohammad; Shohrati, Majid; Saburi, Amin

    2014-01-01

    Background: Various strategies have been suggested for the treatment of respiratory distress syndrome (RDS). Objectives: The aim of this study was to compare the efficacies of two common methods of RDS management among neonates with low birth weight. Patients and Methods: A cohort study was conducted on 98 neonates with definite diagnosis of RDS during 2008-2009. The neonates were divided into two groups by a blinded supervisor using simple randomization (odd and even numbers). Forty-five cases in the first group were treated with intubation, surfactant therapy, extubation (INSURE method) followed by nasal continuous positive airway pressure (N.CPAP) and 53 cases in the second group underwent intubation, surfactant therapy followed by mechanical ventilation (MV). Results: Five (11.1%) cases in the first group and 23 (43%) cases in the second group expired during the study. The rates of MV dependency among cases with INSURE failure and cases in the MV group were 37% and 83%, respectively (P < 0.001). Birth weight (BW) (P = 0.017), presence of retinopathy of prematurity (P = 0.022), C/S delivery (P = 0.029) and presence of lung bleeding (P = 0.010) could significantly predict mortality in the second group, although only BW (P = 0.029) had a significant impact on the mortality rate in the first group. Moreover, BW was significantly related to the success rate in the first group (P = 0.001). Conclusions: Our findings demonstrated that INSURE plus NCPAP was more effective than the routine method (permanent intubation after surfactant prescription). In addition, the lower rates of mortality, MV dependency, duration of hospitalization, and complications were observed in cases treated with the INSURE method compared to the routine one. PMID:24910785

  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. Cost-effectiveness of clopidogrel, prasugrel and ticagrelor for dual antiplatelet therapy after acute coronary syndrome: a decision-analytic model

    PubMed Central

    Abdel-Qadir, Husam; Roifman, Idan; Wijeysundera, Harindra C.

    2015-01-01

    Background: The use of prasugrel or ticagrelor as part of dual antiplatelet therapy with acetylsalicylic acid after acute coronary syndrome (ACS) improves clinical outcomes relative to clopidogrel. The relative cost-effectiveness of these agents are unknown. We conducted an economic analysis evaluating 12 months of treatment with clopidogrel, prasugrel or ticagrelor after ACS. Methods: We developed a fully probabilistic Markov cohort decision-analytic model using a lifetime horizon, from the perspective of the Ontario Ministry of Health and Long-Term Care. The model incorporated risks of death, recurrent ACS, heart failure, major bleeding and other adverse effects of treatment. Data on probabilities and utilities were obtained from the published literature where available. The primary outcome was quality-adjusted life-years (QALYs). Results: Treatment with clopidogrel was associated with the lowest effectiveness (7.41 QALYs, 95% confidence interval [CI] 1.05-14.79) and the lowest cost ($39 601, 95% CI $8434-$111 186). Ticagrelor treatment had an effectiveness of 7.50 QALYs (95% CI 1.13-14.84) at a cost of $40 649 (95% CI $9327-$111 881). The incremental cost-effectiveness ratio (ICER) for ticagrelor relative to clopidogrel was $12 205 per QALY gained. Prasugrel had an ICER of $57 630 per QALY gained relative to clopidogrel. Ticagrelor was the preferred option in 90% of simulations at a willingness-to-pay threshold of $50 000 per QALY gained. Interpretation: Ticagrelor was the most cost-effective agent when used as part of dual antiplatelet therapy after ACS. This conclusion was robust to wide variations in model parameters. PMID:26770967

  15. 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

  16. 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

  17. Lumbar disc herniation and cauda equina syndrome following spinal manipulative therapy: a review of six court decisions in Canada.

    PubMed

    Boucher, Pierre; Robidoux, Sbastien

    2014-02-01

    The purpose of this review is to expand practitioners' knowledge on areas of liability when treating low back pain patients. Six cases where chiropractors in Canada were sued for allegedly causing or aggravating lumbar disc herniation after spinal manipulative therapy were retrieved using the CANLII search database. The case series involves 4 men and 2 women with an average age of 37.3 years (range, 31-48 years). Trial courts' decisions were rendered between 2000 and 2011. This study highlights the following conclusions from Canadian courts: 1) informed consent is an ongoing process that cannot be entirely delegated to office personnel; 2) when the patient's history reveals risk factors for lumbar disc herniation the chiropractor has the duty to rule out disc pathology as an etiology for the symptoms presented by the patients before beginning anything but conservative palliative treatment; 3) lumbar disc herniation may be triggered by spinal manipulative therapy on vertebral segments distant from the involved herniated disc such as the thoracic spine. PMID:24485443

  18. The Impact of Chiropractic Manipulative Therapy on Chronic Recurrent Lateral Ankle Sprain Syndrome in Two Young Athletes

    PubMed Central

    Gillman, Scott F.

    2004-01-01

    Abstract Objective To describe two cases of abrupt resolution of chronic, recurrent, inversion sprain to ankles in young recreational athletes. Clinical Features A 13-year-old, female, avid recreational soccer player with ankles that would spontaneously invert during various inconsistent points in the weight bearing gait cycle, sometimes with acute pain or sprain to the ankle. No intervention was attempted prior to her entry to the chiropractic office. A 17-year-old male avid skate- boarder and snowboarder whose left ankle routinely gave out into inversion upon mundane weight bearing activity, usually with pain and with dependence on wearing an ankle support when skateboarding to lessen ankle pain. The patient had used an ankle support prior to seeking chiropractic care. Intervention and Outcome High velocity, low amplitude chiropractic manipulative therapy applied to the spine, pelvis and extremity joints was the primary intervention in both cases, with particular focus on the ankle. Other procedures used included taping and orthotics, but not before the manipulation effect was noted. Conclusion High velocity, low amplitude chiropractic manipulative therapy to the spine, pelvis, and extremities, particularly at the ankle, should be considered when managing young recreational athletes with functional chronic, recurrent, ankle inversion sprains. PMID:19674638

  19. Metabolic Syndrome

    MedlinePLUS

    ... How Can I Help a Friend Who Cuts? Metabolic Syndrome KidsHealth > For Teens > Metabolic Syndrome Print A A ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  20. Evolving Insights in the Pathogenesis and Therapy of Cutaneous T-cell lymphoma (Mycosis Fungoides and Sezary Syndrome)

    PubMed Central

    Wong, Henry K.; Mishra, Anjali; Hake, Timothy; Porcu, Pierluigi

    2015-01-01

    Cutaneous T-cell lymphomas (CTCL) are a heterogeneous group of malignancies derived from skin-homing T cells. The most common forms of CTCL are Mycosis Fungoides (MF) and Sezary Syndrome (SS). Accurate diagnosis remains a challenge due to the heterogeneity of presentation and the lack of highly characteristic immunophenotypical and genetic markers. Over the past decade molecular studies have improved our understanding of the biology of CTCL. The identification of gene expression differences between normal and malignant T-cells has led to promising new diagnostic and prognostic biomarkers that now need validation to be incorporated into clinical practice. These biomarkers may also provide insight into the mechanism of development of CTCL. Additionally, treatment options have expanded with the approval of new agents, such as histone deacetylase inhibitors. A better understanding of the cell biology, immunology and genetics underlying the development and progression of CTCL will allow the design of more rational treatment strategies for these malignancies. This review summarizes the clinical epidemiology, staging and natural history of MF and SS; discusses the immunopathogenesis of MF and the functional role of the malignant T-cells; and reviews the latest advances in MF and SS treatment. PMID:21883142

  1. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome

    PubMed Central

    Nistala, Harikiran; Lee-Arteaga, Sui; Carta, Luca; Cook, Jason R.; Smaldone, Silvia; Siciliano, Gabriella; Rifkin, Aaron N.; Dietz, Harry C.; Rifkin, Daniel B.; Ramirez, Francesco

    2010-01-01

    Reduced bone mineral density (osteopenia) is a poorly characterized manifestation of pediatric and adult patients afflicted with Marfan syndrome (MFS), a multisystem disorder caused by structural or quantitative defects in fibrillin-1 that perturb tissue integrity and TGF? bioavailability. Here we report that mice with progressively severe MFS (Fbn1mgR/mgR mice) develop osteopenia associated with normal osteoblast differentiation and bone formation. In vivo and ex vivo experiments, respectively, revealed that adult Fbn1mgR/mgR mice respond more strongly to locally induced osteolysis and that Fbn1mgR/mgR osteoblasts stimulate pre-osteoclast differentiation more than wild-type cells. Greater osteoclastogenic potential of mutant osteoblasts was largely attributed to Rankl up-regulation secondary to improper TGF? activation and signaling. Losartan treatment, which lowers TGF? signaling and restores aortic wall integrity in mice with mild MFS, did not mitigate bone loss in Fbn1mgR/mgR mice even though it ameliorated vascular disease. Conversely, alendronate treatment, which restricts osteoclast activity, improved bone quality but not aneurysm progression in Fbn1mgR/mgR mice. Taken together, our findings shed new light on the pathogenesis of osteopenia in MFS, in addition to arguing for a multifaceted treatment strategy in this congenital disorder of the connective tissue. PMID:20871099

  2. Time to explore preventive and novel therapies for bronchiolitis obliterans syndrome after allogeneic hematopoietic stem cell transplantation.

    PubMed

    Sengsayadeth, Salyka M; Srivastava, Shivani; Jagasia, Madan; Savani, Bipin N

    2012-10-01

    Although allogeneic hematopoietic stem cell transplant (allo-HSCT) is performed to treat otherwise incurable and fatal diseases, transplantation itself can lead to life-threatening complications due to organ damage. Pulmonary complications remain a significant barrier to the success of allo-HSCT. Lung injury, a frequent complication after allo-HSCT, and noninfectious pulmonary deaths account for a significant proportion of non-relapse mortality. Bronchiolitis obliterans syndrome (BOS) is a common and potentially devastating complication. BOS is now considered a diagnostic criterion of chronic graft-versus-host-disease (cGVHD), and National Institutes of Health (NIH) consensus has been published to establish guidelines for diagnosis and monitoring of BOS. It usually occurs within the first 2 years but may develop as late as 5 years after transplantation. Recent prevalence estimates suggest that BOS is likely underdiagnosed, and when severe BOS does occur, current treatments have been largely ineffective. Prevention and effective novel approaches remain the primary tools in the clinician's arsenal in managing BOS. This article provides an overview of the currently available and novel strategies for BOS, and we also discuss specific preventive interventions to reduce severe BOS after allo-HSCT. Therapeutic trials continue to be needed for this orphan disease. PMID:22449611

  3. Analysis of the cost-effectiveness of surfactant treatment (Curosurf) in respiratory distress syndrome therapy in preterm infants: early treatment compared to late treatment

    PubMed Central

    2014-01-01

    Background The best criteria for surfactant treatment in the perinatal period are unknown and this makes it of interest to consider the possible economic implications of lessening the use of more restrictive criteria. Objective The objective of this study is the evaluation of the costs of respiratory care for preterm infants with Respiratory Distress Syndrome (RDS) treated with "early rescue" surfactant compared to a "late rescue" strategy. Methods The study was carried out applying the costs of materials used, of staff and pharmacological therapy calculated in the Neonatal Intensive Care Unit (NICU) of an Italian hospital to the Verder et al. study (Pediatrics 1999) clinical data. Results The cost for patients treated with early strategy was slightly lower than for patients treated with late strategy (Euro 4,901.70 vs. Euro 4,960.07). The cost of treatment with surfactant was greater in the early group (Euro 458.49 vs. Euro 311.74), but this was compensated by the greater cost of treatment with Mechanical Ventilation (MV) in the late group (respectively Euro 108.85 vs. Euro 259.25). Conclusions The cost-effectiveness analysis performed in this study shows how early treatment with surfactant in preterm infants with RDS, as well as being clinically more effective, is associated with a slightly lower cost. PMID:24886906

  4. Use of modified electroconvulsive therapy in a case of polymyositis presenting with delusion of nihilism of proxy (Odysseus syndrome).

    PubMed

    Shah, Ruchita; Grover, Sandeep; Krishna, Kodakandla; Singh, Dharminder

    2011-03-01

    We present a case of psychotic depression with polymyositis presenting with the distinct phenomenon of nihilism by proxy, which was treated with electroconvulsive therapy (ECT). A female patient with polymyositis was initially treated with pharmacotherapy. After initial response, there was deterioration in her mental state and hence, after careful consideration, neurological, and anaesthetic consultations, modified ECT was given with close monitoring. The mental state of the patient improved with a course of ECT, which proceeded without any complications. Her depressive symptoms including the delusion of nihilism by proxy responded to ECT. To the best of our knowledge, the use of ECT has not been reported in a case of polymyositis before, and this case shows that modified ECT can be given successfully in patients with polymyositis. PMID:21233766

  5. 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

  6. Epidemiology and Clinical Parameters of Adult Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome at the Initiation of Antiretroviral Therapy in South Eastern Nigeria

    PubMed Central

    Eleje, GU; Ele, PU; Okocha, EC; Iloduba, UC

    2014-01-01

    Background: Human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) has continued to ravage the teeming populations in Nigeria, with disastrous consequences. Despite many studies and progress on HIV/AIDS in Africa, the data on the status of the patients at the commencement of therapy is lacking. Aim: The aim of this study is to determine the demographic, clinical and some laboratory features of adult HIV/AIDS patients, seen at the commencement of antiretroviral therapy (ART) in Nnamdi Azikiwe University Teaching Hospital, Nnewi, south-east Nigeria between July 2002 and October 2004. Subjects and Methods: The study was a cross-sectional, descriptive study. Adult patients living with HIV/AIDS were studied using an interview administered questionnaire. Data was analyzed using Epi Info 2008 version 3.5.1. Results: A total of 400 respondents participated in this study. The mean age was 36.8 (8.8) years. Almost 60% patients were married and the HIV concordance rate was 53.3% (136/255). Nearly 30% of the families had at least one child positive for HIV. The most common associated risky behavior was injection administered in patent medicine stores 74.5%(302/400) and the most common clinical symptom was respiratory. Of the 400 patients recruited in this study, 19 (4.8%) were lost to follow-up on the 6 months visit, giving a follow-up rate of 95.2% (381/400). There was statistically significant difference in the mean body weight (P = 0.02), mean total white blood cell count (P < 0.001) and mean CD4+ count (P < 0.001) at presentation and after 6 months of ART therapy. Conclusion: HIV/AIDS patients present late and body weight, CD4+ count and total white blood cell count seemed to recover quickly on commencement of ART. The prevalence of concordance among couples and mother to child transmission rates tended to be high. Administration of injectable at patent medicine stores and multiple sexual partners are the most significant risk factors. PMID:24761241

  7. Hemophagocytic syndrome.

    PubMed

    Al-Talag, A H; Mohamed, A E; Dafulla, M M; Ghandour, Z; Al-Karawi, M A; Haleem, A

    2000-10-01

    This case report is about an elderly man who presented with a long-standing history of high-grade fever and weight loss. He initially had only hepatosplenomegaly, but then developed jaundice. He also had pancytopenia and raised liver enzymes. His septic screen was negative, but he had a positive Monospot test and immunoglobulin G for Epstein-Barr virus. The liver biopsy showed sinusoidal phagocytosis and the subsequent bone marrow aspiration and biopsy showed significant hemophagocytosis, hence Hemophagocytic syndrome was diagnosed. The fever was refractory to antibiotic and anti-tuberculosis therapy, but it responded only partially to steroids. Full response was only noticed following anti-viral treatment in the form of intravenous Ganciclovir. The patient's general condition, liver enzymes, bilirubin, hematological parameters and even the weight returned back to their normal range 2 weeks after Ganciclovir therapy. Cessation of this drug resulted in relapse of his symptoms and oral antivirals did not help. Splenectomy, steroid pulse therapy and immunosuppressive treatment were only partially helpful. Reintroduction of Ganciclovir did help for a short period. We conclude that our patient had virus-associated hemophagocytic syndrome most likely related to Epstein-Barr virus infection, which was then confirmed by the splenic biopsy, and that Ganciclovir can be of great help in eradicating the virus and treating the disease, provided that it is given for a long enough period. PMID:11369969

  8. 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

  9. Recombinant Human Erythropoietin Therapy for a Jehovah's Witness Child With Severe Anemia due to Hemolytic-Uremic Syndrome

    PubMed Central

    Woo, Da Eun; Lee, Jae Min; Kim, Yu Kyung

    2016-01-01

    Patients with hemolytic-uremic syndrome (HUS) can rapidly develop profound anemia as the disease progresses, as a consequence of red blood cell (RBC) hemolysis and inadequate erythropoietin synthesis. Therefore, RBC transfusion should be considered in HUS patients with severe anemia to avoid cardiac or pulmonary complications. Most patients who are Jehovah's Witnesses refuse blood transfusion, even in the face of life-threatening medical conditions due to their religious convictions. These patients require management alternatives to blood transfusions. Erythropoietin is a glycopeptide that enhances endogenous erythropoiesis in the bone marrow. With the availability of recombinant human erythropoietin (rHuEPO), several authors have reported its successful use in patients refusing blood transfusion. However, the optimal dose and duration of treatment with rHuEPO are not established. We report a case of a 2-year-old boy with diarrhea-associated HUS whose family members are Jehovah's Witnesses. He had severe anemia with acute kidney injury. His lowest hemoglobin level was 3.6 g/dL, but his parents refused treatment with packed RBC transfusion due to their religious beliefs. Therefore, we treated him with high-dose rHuEPO (300 IU/kg/day) as well as folic acid, vitamin B12, and intravenous iron. The hemoglobin level increased steadily to 7.4 g/dL after 10 days of treatment and his renal function improved without any complications. To our knowledge, this is the first case of successful rHuEPO treatment in a Jehovah's Witness child with severe anemia due to HUS. PMID:26958070

  10. Recombinant Human Erythropoietin Therapy for a Jehovah's Witness Child With Severe Anemia due to Hemolytic-Uremic Syndrome.

    PubMed

    Woo, Da Eun; Lee, Jae Min; Kim, Yu Kyung; Park, Yong Hoon

    2016-02-01

    Patients with hemolytic-uremic syndrome (HUS) can rapidly develop profound anemia as the disease progresses, as a consequence of red blood cell (RBC) hemolysis and inadequate erythropoietin synthesis. Therefore, RBC transfusion should be considered in HUS patients with severe anemia to avoid cardiac or pulmonary complications. Most patients who are Jehovah's Witnesses refuse blood transfusion, even in the face of life-threatening medical conditions due to their religious convictions. These patients require management alternatives to blood transfusions. Erythropoietin is a glycopeptide that enhances endogenous erythropoiesis in the bone marrow. With the availability of recombinant human erythropoietin (rHuEPO), several authors have reported its successful use in patients refusing blood transfusion. However, the optimal dose and duration of treatment with rHuEPO are not established. We report a case of a 2-year-old boy with diarrhea-associated HUS whose family members are Jehovah's Witnesses. He had severe anemia with acute kidney injury. His lowest hemoglobin level was 3.6 g/dL, but his parents refused treatment with packed RBC transfusion due to their religious beliefs. Therefore, we treated him with high-dose rHuEPO (300 IU/kg/day) as well as folic acid, vitamin B12, and intravenous iron. The hemoglobin level increased steadily to 7.4 g/dL after 10 days of treatment and his renal function improved without any complications. To our knowledge, this is the first case of successful rHuEPO treatment in a Jehovah's Witness child with severe anemia due to HUS. PMID:26958070

  11. 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.

  12. [Hepatorenal syndrome].

    PubMed

    Pillebout, Evangline

    2014-02-01

    Hepatorenal syndrome is a severe complication of end-stage liver disease. The pathophysiological hallmark is severe renal vasoconstriction, resulting from peripheral and splanchnic vasodilation as well as activation of renal vasoconstrictor molecules, which induce the effective arterial volume reduction and the functional renal failure. The diagnosis of hepatorenal syndrome is currently based on the exclusion of other causes of renal failure (especially prerenal). Spontaneous bacterial peritonitis is one of the triggering factors and should be sought in all patients with severe liver disease and acute renal failure. Quickly treating patients with parental antibiotics and albumin infusion significantly decreases the risk. The combined use of intravenous albumin, splanchnic and peripheral vasoconstrictor and/or renal replacement therapy sometimes enables a delay until liver transplantation (or combined liver-kidney in selected patients). Transplantation is in fact the only way to improve the long-term prognosis. PMID:24388293

  13. Metabolic syndrome.

    PubMed

    Denke, Margo A

    2002-11-01

    The metabolic syndrome is like an elephant, and any literary review of its importance is shamefully reduced to an examination of tusks, trunk, and tail. Evidence continues to mount that this diminutive approach is an incorrect management strategy for such a large problem. Diet and lifestyle are effective strategies, but they must effectively compete with behaviors that have instant gratification. Our society has turned its focus away from the long-term rewards of good sustainable behaviors and has instead focused on short-term rewards of unsustainable behaviors. To tame the behaviors that promote the metabolic syndrome, simple answers from diet and drug therapy will require support from society to be effective. PMID:12361491

  14. Modifications de l'expression des gènes GST-μ et p53 dans des lignées tumorales cellulaires humaines O.R.L. après irradiation gamma : induction, études cellulaires et moléculaires

    NASA Astrophysics Data System (ADS)

    Dubessy, C.; Merlin, J. L.; Marchal, C.

    1998-04-01

    Cell sub-populations surviving to high radiation doses were selected. The KBm survival part was obtained by exposure to a mutagenic agent and irradiation, FaDum results of a progressive irradiation of FaDu. A semi-quantitative RT-PCR analysis revealed a significant overexpression of GST-μ and p53 genes for KBm and FaDum cell lines that remained stable for 18 months. The SF2, α, β, and MID parameters, determined by clonogenic assays, show no modifications of radiosensitivity. The variations of expression observed are not correlated to a radiosensitivity variation. The overexpression of GST-μ and p53 does not seem to be a radiosensitivity marker. Nous avons isolé des sous-populations de 2 lignées cellulaires humaines (KB et FaDu) de carcinomes des voies aéro-digestives supérieures survivant à de fortes doses d'irradiation. La fraction survivante KBm a été obtenu après exposition à un agent mutagène et à une irradiation, FaDum résulte de l'irradiation progressive de FaDu. Une analyse par RT-PCR semi-quantitative nous a permis de mettre en évidence une surexpression significative des gènes GST-μ et p53 pour les souches KBm et FaDum analysées après 18 mois de culture. Les paramètres, α, β, SF2, MID, déterminés par essais clonogéniques, n'indiquent pas de modification de la radiosensibilité. Les variations d'expression observées ne sont donc pas corrélées à une variation de radiosensibilité. La surexpression des gènes GST-μ et p53 ne semble pas constituer un marqueur de radiosensibilité.

  15. 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

  16. 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

  17. ?-Blockers for Treatment of the Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    2005-01-01

    The prostatitis syndromes are among the most common and frustrating clinical challenges for urologists in outpatient practice. Available treatment, especially for the chronic prostatitis syndromes, is poor, with no standard therapy producing significant cure rates. ?-Blocker therapy has been advocated (with various levels of evidence) as a treatment modality for all categories of the prostatitis syndromes. This article reviews the evidence supporting the use of ?-blocker therapy in patients with prostatitis. Further trials of longer duration, perhaps employing combination therapies, are indicated to better evaluate the role of ?-blockers in the management of the prostatitis syndromes. PMID:16985886

  18. Low-level laser therapy (LLLT) acts as cAMP-elevating agent in acute respiratory distress syndrome.

    PubMed

    de Lima, Flvia Mafra; Moreira, Leonardo M; Villaverde, A B; Albertini, Regiane; Castro-Faria-Neto, Hugo C; Aimbire, Flvio

    2011-05-01

    The aim of this work was to investigate if the low-level laser therapy (LLLT) on acute lung inflammation (ALI) induced by lipopolysaccharide (LPS) is linked to tumor necrosis factor (TNF) in alveolar macrophages (AM) from bronchoalveolar lavage fluid (BALF) of mice. LLLT has been reported to actuate positively for relieving the late and early symptoms of airway and lung inflammation. It is not known if the increased TNF mRNA expression and dysfunction of cAMP generation observed in ALI can be influenced by LLLT. For in vivo studies, Balb/c mice (n?=?5 for group) received LPS inhalation or TNF intra nasal instillation and 3h after LPS or TNF-?, leukocytes in BALF were analyzed. LLLT administered perpendicularly to a point in the middle of the dissected bronchi with a wavelength of 660nm and a dose of 4.5J/cm(2). The mice were irradiated 15min after ALI induction. In vitro AM from mice were cultured for analyses of TNF mRNA expression and protein and adenosine3':5'-cyclic monophosphate (cAMP) levels. One hour after LPS, the TNF and cAMP levels in AM were measured by ELISA. RT-PCR was used to measure TNF mRNA in AM. The LLLT was inefficient in potentiating the rolipram effect in presence of a TNF synthesis inhibitor. LLLT attenuated the neutrophil influx and TNF in BALF. In AM, the laser increased the cAMP and reduced the TNF-? mRNA. LLLT increases indirectly the cAMP in AM by a TNF-dependent mechanism. PMID:21184127

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

    PubMed Central

    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

    2015-01-01

    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

  20. An open-label pilot study of pulsed electromagnetic field therapy in the treatment of failed back surgery syndrome pain.

    PubMed

    Harper, Wayne L; Schmidt, William K; Kubat, Nicole J; Isenberg, Richard A

    2015-01-01

    Persistent pain following back surgery remains a major treatment challenge. The primary objective of this open-label exploratory study was to investigate the analgesic effectiveness of pulsed electromagnetic field therapy administered twice daily over a 45-day period in 34 subjects (68% female) with persistent or recurrent pain following back surgery. A secondary goal was to guide the design of future randomized controlled trials that could target responsive subpopulations. All predefined primary and secondary outcomes, including change in pain intensity (PI), physical function (Oswestry Disability Index), analgesic consumption, and overall well-being (Patient Global Impression of Change), are reported. A responder analysis (≥30% reduction in PI versus baseline) was added as a post hoc evaluation. Safety outcomes, as well as results of a cost-avoidance survey, are also summarized. Of the 30 per-protocol subjects who completed the study, 33% reported a clinically meaningful (≥30%) reduction in PI. A higher response rate (60%) was reported for subjects who had undergone discectomy prior to the trial compared to subjects who had undergone other types of surgical interventions (decompression or fusion) without discectomy. Improvements in PI were paralleled by improvements in secondary outcomes. Relative to baseline, responders reported an average 44% and 55% reduction in back PI and leg PI (respectively), and an average 13% improvement in Oswestry Disability Index scores. In the per-protocol population, 50% of responders and 12% of nonresponders reported less analgesia consumption at the end of treatment versus baseline. Sixty-seven percent of per-protocol responders and 0% of nonresponders reported clinically meaningful improvement in overall well-being on the Patient Global Impression of Change scale. PMID:25678825

  1. An open-label pilot study of pulsed electromagnetic field therapy in the treatment of failed back surgery syndrome pain

    PubMed Central

    Harper, Wayne L; Schmidt, William K; Kubat, Nicole J; Isenberg, Richard A

    2015-01-01

    Persistent pain following back surgery remains a major treatment challenge. The primary objective of this open-label exploratory study was to investigate the analgesic effectiveness of pulsed electromagnetic field therapy administered twice daily over a 45-day period in 34 subjects (68% female) with persistent or recurrent pain following back surgery. A secondary goal was to guide the design of future randomized controlled trials that could target responsive subpopulations. All predefined primary and secondary outcomes, including change in pain intensity (PI), physical function (Oswestry Disability Index), analgesic consumption, and overall well-being (Patient Global Impression of Change), are reported. A responder analysis (≥30% reduction in PI versus baseline) was added as a post hoc evaluation. Safety outcomes, as well as results of a cost-avoidance survey, are also summarized. Of the 30 per-protocol subjects who completed the study, 33% reported a clinically meaningful (≥30%) reduction in PI. A higher response rate (60%) was reported for subjects who had undergone discectomy prior to the trial compared to subjects who had undergone other types of surgical interventions (decompression or fusion) without discectomy. Improvements in PI were paralleled by improvements in secondary outcomes. Relative to baseline, responders reported an average 44% and 55% reduction in back PI and leg PI (respectively), and an average 13% improvement in Oswestry Disability Index scores. In the per-protocol population, 50% of responders and 12% of nonresponders reported less analgesia consumption at the end of treatment versus baseline. Sixty-seven percent of per-protocol responders and 0% of nonresponders reported clinically meaningful improvement in overall well-being on the Patient Global Impression of Change scale. PMID:25678825

  2. 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

  3. 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

  4. A prospective study of the cumulative incidence and course of restless legs syndrome in de novo patients with Parkinson's disease during chronic dopaminergic therapy.

    PubMed

    Marchesi, Elena; Negrotti, Anna; Angelini, Monica; Goldoni, Matteo; Abrignani, Giorgia; Calzetti, Stefano

    2016-03-01

    The authors report the cumulative incidence of Restless Legs Syndrome (RLS) over a 3 years follow-up period in 92 de novo Parkinson's disease patients under chronic dopaminergic therapy and the clinical course of the sensory-motor disorder over 12 months as from its onset. The overall cumulative incidence of RLS was found by 15.3 %, i.e. 14 incident cases, and by 11.9 %, i.e. 11 incident cases, after the exclusion of possible "secondary" forms of the disorder. These figures are higher than those reported in general population in Germany (Study of Health in Pomerania), confirming our previous findings of incidence rate of the disorder. At the end of the 3 years follow-up period the prevalence of "current" RLS was significantly higher than that previously found in drug naïve Parkinson's disease patients and in controls, supporting the view that RLS emerging in the course of chronic dopaminergic therapy is the main determinant of the co-morbid association with Parkinson's disease. During the 12 months period of observation the RLS showed a frequency of occurrence of 6.08 episodes per month on average and a remittent clinical course was prevailing in the 11 incident cases, with a significant frequency decrease in the second as compared to the first 6 months, i.e. 3.26 versus 8.9 episodes per month, and none of the patients developed augmentation in the same period. It is hypothesized that the remittent course could be due to long-term adaptation (downregulation) of the hypersensitive post-synaptic dopamine receptors in the spinal cord to a continuous dopaminergic stimulation, possibly coupled with compensatory up-regulation of pre-synaptic dopamine re-uptake mechanism, in the patients in which the hypothalamic A11 area, site of origin of the dopamine-mediated diencephalo-spinal pathway, is involved in the neurodegenerative process. PMID:26566909

  5. Hypothesizing repetitive paraphilia behavior of a medication refractive Tourette's syndrome patient having rapid clinical attenuation with KB220Z-nutrigenomic amino-acid therapy (NAAT).

    PubMed

    Mclaughlin, Thomas; Oscar-Berman, Marlene; Simpatico, Thomas; Giordano, John; Jones, Scot; Barh, Debmayla; Downs, William B; Waite, Roger L; Madigan, Margaret; Dushaj, Kristina; Lohmann, Raquel; Braverman, Eric R; Han, David; Blum, Kenneth

    2013-06-01

    Background and aims Many patients presenting multiple behaviors including drug and food abuse as well as other pathological repetitive unwanted activities such as gambling, self-mutilation and paraphilias may not be appropriately diagnosed. Here we present a case of a male presenting many of these seemingly diverse behaviors and finally diagnosed with reward deficiency syndrome (RDS) by his attending physician. Methods The use of the dopamine agonist, ropinirole after two weeks showed improvement in terms of sexual behavior but tolerance set in and was discontinued especially when an infraction occurred with the patient's insurance. In this article, we carefully explore the potential of ropinirole to downregulate dopamine receptors causing adenylate cyclase receptor supersensitivity and tolerance a feature of neurotransmitter cross-talk. Based on previous scientific evidence showing KB220Znutrigenomic amino-acid therapy (NAAT) to rapidly (post one-hour) activate dopaminergic pathways in both the pre-frontal cortex cingulate gyrus (relapse loci) and ventral tegmental area-caudate-accumbens-putamen (craving and emotion loci) the patient was prescribed NAAT. Results and discussion Within one week of utilization the repetitive paraphilia was eliminated. There were also a number of other positive effects such as enhanced focus that persisted even after the patient stopped using KB220Z suggesting neuroplasticity (e.g. altruistic thoughts). However, these observed profound benefits require more in-depth study, especially in a large cohort against a placebo. While this report focused on a rapid response rather than long-term benefits previously associated with NAAT, it is somewhat encouraging and longer term required follow-up and larger placebo controlled studies are warranted before any definitive conclusions could be gleaned from this case report. PMID:26165932

  6. 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

  7. 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 < 0.001, for both) following 12 weeks, as well as an improvement of the VHI (p < 0.001) and the MI (p < 0.04). The results of this open study indicate that 12 weeks of local estriol cream at vaginal and vestibular level may ameliorate urinary/bladder pain symptoms, as well as may improve domains of sexual function. The association between vulvar pain and bladder pain could, therefore, be related to a vaginal environment carrying signs of hypoestrogenism, but further studies are needed to clarify this issue. PMID:26291799

  8. 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 < 0.001, for both) following 12 weeks, as well as an improvement of the VHI (p < 0.001) and the MI (p < 0.04). The results of this open study indicate that 12 weeks of local estriol cream at vaginal and vestibular level may ameliorate urinary/bladder pain symptoms, as well as may improve domains of sexual function. The association between vulvar pain and bladder pain could, therefore, be related to a vaginal environment carrying signs of hypoestrogenism, but further studies are needed to clarify this issue. PMID:26229041

  9. A phase I study of low-pressure hyperbaric oxygen therapy for blast-induced post-concussion syndrome and post-traumatic stress disorder.

    PubMed

    Harch, Paul G; Andrews, Susan R; Fogarty, Edward F; Amen, Daniel; Pezzullo, John C; Lucarini, Juliette; Aubrey, Claire; Taylor, Derek V; Staab, Paul K; Van Meter, Keith W

    2012-01-01

    This is a preliminary report on the safety and efficacy of 1.5 ATA hyperbaric oxygen therapy (HBOT) in military subjects with chronic blast-induced mild to moderate traumatic brain injury (TBI)/post-concussion syndrome (PCS) and post-traumatic stress disorder (PTSD). Sixteen military subjects received 40 1.5 ATA/60 min HBOT sessions in 30 days. Symptoms, physical and neurological exams, SPECT brain imaging, and neuropsychological and psychological testing were completed before and within 1 week after treatment. Subjects experienced reversible middle ear barotrauma (5), transient deterioration in symptoms (4), and reversible bronchospasm (1); one subject withdrew. Post-treatment testing demonstrated significant improvement in: symptoms, neurological exam, full-scale IQ (+14.8 points; p<0.001), WMS IV Delayed Memory (p=0.026), WMS-IV Working Memory (p=0.003), Stroop Test (p<0.001), TOVA Impulsivity (p=0.041), TOVA Variability (p=0.045), Grooved Pegboard (p=0.028), PCS symptoms (Rivermead PCSQ: p=0.0002), PTSD symptoms (PCL-M: p<0.001), depression (PHQ-9: p<0.001), anxiety (GAD-7: p=0.007), quality of life (MPQoL: p=0.003), and self-report of percent of normal (p<0.001), SPECT coefficient of variation in all white matter and some gray matter ROIs after the first HBOT, and in half of white matter ROIs after 40 HBOT sessions, and SPECT statistical parametric mapping analysis (diffuse improvements in regional cerebral blood flow after 1 and 40 HBOT sessions). Forty 1.5 ATA HBOT sessions in 1 month was safe in a military cohort with chronic blast-induced PCS and PTSD. Significant improvements occurred in symptoms, abnormal physical exam findings, cognitive testing, and quality-of-life measurements, with concomitant significant improvements in SPECT. PMID:22026588

  10. Chromosomal abnormalities in women with breast cancer after autologous stem cell transplantation are infrequent and may not predict development of therapy-related leukemia or myelodysplastic syndrome.

    PubMed

    Martnez-Climent, J A; Comes, A M; Vizcarra, E; Benet, I; Arbona, C; Prsper, F; Solano, C; Garca Clavel, B; Marugn, I; Lluch, A; Garca-Conde, J

    2000-06-01

    We determined prospectively the incidence of chromosomal abnormalities in patients with high-risk breast cancer (HRBC) after high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT), and correlated the cytogenetic abnormalities with the development of post-transplant myelodysplastic syndrome or acute myeloid leukemia (MDS/AML). From 1990 to 1999, 229 women with HRBC underwent ASCT. Cytogenetic analysis of bone marrow (BM) cells was performed 12-59 months after ASCT in 60 consecutive women uniformly treated with six courses of FAC/FEC followed by HDCT and ASCT. With a median follow-up of 36 months after ASCT, there were no cases of MDS/AML among the 229 patients. In the selected cohort of 60 patients, three (5%) showed clonal chromosomal abnormalities (two single trisomy X and one t(1;6)), whereas two additional patients showed non-clonal reciprocal translocations. Two of the patients with clonal aberrations had blood cytopenias as well as subtle dysplastic pictures in BM which were not classifiable as MDS according to the FAB criteria. Similar dysplastic features were also observed in four patients with normal karyotypes. All cytogenetic aberrations were transient and disappeared, except a +X detected by FISH in a residual cell population in one of the patients. Retrospective cytogenetic and FISH studies of samples obtained after six cycles of FAC/FEC and before transplant demonstrated no chromosomal abnormalities in any of the five patients with post-ASCT karyotypic changes. Early changes in karyotype detected in breast cancer patients following ASCT are transient and do not correlate with or predict development of MDS/AML. As these aberrations were not present before ASCT, they may be related to the HDCT regimen or transplant procedure rather than to the prior adjuvant therapy. Our results suggest that ASCT may be less likely to cause MDS or AML in breast cancer patients as compared to other malignancies. Bone Marrow Transplantation (2000) 25, 1203-1208. PMID:10849534

  11. Matrix Metalloproteinases in Tuberculosis-Immune Reconstitution Inflammatory Syndrome and Impaired Lung Function Among Advanced HIV/TB Co-infected Patients Initiating Antiretroviral Therapy

    PubMed Central

    Ravimohan, Shruthi; Tamuhla, Neo; Kung, Shiang-Ju; Nfanyana, Kebatshabile; Steenhoff, Andrew P.; Gross, Robert; Weissman, Drew; Bisson, Gregory P.

    2015-01-01

    Background HIV-infected patients with pulmonary TB (pTB) can have worsening of respiratory symptoms as part of TB-immune reconstitution inflammatory syndrome (TB-IRIS) following antiretroviral therapy (ART) initiation. Thus, reconstitution of immune function on ART could drive incident lung damage in HIV/TB. Methods We hypothesized that increases in matrix metalloproteinases (MMPs), which can degrade lung matrix, on ART are associated with TB-IRIS among a cohort of advanced, ART naïve, HIV-infected adults with pTB. Furthermore, we related early changes in immune measures and MMPs on ART to lung function in an exploratory subset of patients post-TB cure. This study was nested within a prospective cohort study. Rank sum and chi-square tests, Spearman's correlation coefficient, and logistic regression were used for analyses. Results Increases in MMP-8 following ART initiation were independently associated with TB-IRIS (p = 0.04; adjusted odds ratio 1.5 [95% confidence interval: 1.0–2.1]; n = 32). Increases in CD4 counts and MMP-8 on ART were also associated with reduced forced expiratory volume in one-second post-TB treatment completion (r = − 0.7, p = 0.006 and r = − 0.6, p = 0.02, respectively; n = 14). Conclusions ART-induced MMP increases are associated with TB-IRIS and may affect lung function post-TB cure. End-organ damage due to TB-IRIS and mechanisms whereby immune restoration impairs lung function in pTB deserve further investigation. PMID:27014741

  12. 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

  13. 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 ...

  14. Antiphospholipid Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  15. 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 ...

  16. Down Syndrome

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  17. Sweet's syndrome.

    PubMed

    Limdiwala, Piyush G; Parikh, Shilpa J; Shah, Jigna S

    2014-01-01

    Acute febrile neutrophilic dermatosis or Sweet's syndrome (SS) is characterized by painful, erythematous plaques of rapid onset accompanied by fever. The etiology of SS is unknown and it may be associated with antecedent infections, malignancies, autoimmune diseases, drugs and vaccines, upper respiratory or gastrointestinal infection, pregnancy, inflammatory bowel disease as well as chemotherapy or idiopathic. The standard therapy for SS is systemic corticosteroids. We report a rare case of 19-year-old young male patient with complaint of severe ill-defined type of pain in both jaws associated with plaques and papules on extensor surfaces of upper and lower extremities with bodyache and myalgia. Histopathological examination suggested perivascular neutrophilic infiltration with scattered eosinophils. Sweet syndrome has rare oral manifestations secondary to hematological changes. It can also present as a paraneoplastic syndrome (malignancy-associated form of condition, which is most commonly related to acute myelogenous leukemia), which leads to poor prognosis and thus it requires careful examination, early diagnosis and long-term follow-up. PMID:25099003

  18. Hepatorenal syndrome.

    PubMed

    Lata, Jan

    2012-09-28

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS. PMID:23049205

  19. [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

  20. 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, ...

  1. Allogeneic haematopoietic stem cell transplantation for myelofibrosis: a report of the Société Française de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC).

    PubMed

    Robin, Marie; Tabrizi, Reza; Mohty, Mohamad; Furst, Sabine; Michallet, Mauricette; Bay, Jacques-Olivier; Cahn, Jean-Yves; De Coninck, Eric; Dhedin, Nathalie; Bernard, Marc; Rio, Bernard; Buzyn, Agnès; Huynh, Anne; Bilger, Karin; Bordigoni, Pierre; Contentin, Nathalie; Porcher, Raphaël; Socié, Gérard; Milpied, Noel

    2011-02-01

    Allogeneic haematopoietic stem-cell transplantation (HSCT) is the only curative treatment for myelofibrosis. We report an analysis of the Société Française de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC) registry including patients with myelofibrosis transplanted between 1997 and 2008. Potential risk factors affecting engraftment, non-relapse mortality (NRM), overall survival (OS) and progression-free survival (PFS) were analysed.