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Sample records for syndrome therapie cellulaire

  1. 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

  2. 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

  3. 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,

  4. 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,…

  5. 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

  6. 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)

  7. 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,…

  8. Anton syndrome during oxygen-ozone therapy.

    PubMed

    Avcı, Sema; Büyükcam, Fatih; Demir, Ömer Faruk; Özkan, Seda

    2015-06-01

    Ozone (O₃) 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 O₃ gas, investigators think that it has excessive curative effects [1]. Nowadays, O₃ therapy is used for many fields of medicine in precise therapeutic doses [1] and [2]. It is known that O₃ 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 O₃ therapy could be observed in the future. Herein, we presented a case of ischemic stroke after an oxygen-O₃ therapy, which is called also Anton syndrome. PMID:25511367

  9. 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

  10. 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'…

  11. 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

  12. 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

  13. Emerging Therapies for Acute Coronary Syndromes

    PubMed Central

    Lilly, Scott M.; Wilensky, Robert L.

    2011-01-01

    In the majority of cases acute coronary syndromes (ACS) are caused by activation and aggregation of platelets and subsequent thrombus formation leading to a decrease in coronary artery blood flow. Recent focus on the treatment of ACS has centered on reducing the response of platelets to vascular injury as well as inhibiting fibrin deposition. Novel therapies include more effective P2Y12 receptor blockers thereby reducing inter-individual variability, targeting the platelet thrombin receptor (protease activated receptor 1) as well as directly inhibiting factor Xa or thrombin activity. In this review we discuss the clinical data evaluating the effectiveness of these various new ACS treatment options. PMID:22028691

  14. Iron Chelation Therapy in Myelodysplastic Syndromes

    PubMed Central

    Messa, Emanuela; Cilloni, Daniela; Saglio, Giuseppe

    2010-01-01

    Myelodysplastic syndromes (MDS) are a heterogeneous disorder of the hematopoietic stem cells, frequently characterized by anemia and transfusion dependency. In low-risk patients, transfusion dependency can be long lasting, leading to iron overload. Iron chelation therapy may be a therapeutic option for these patients, especially since the approval of oral iron chelators, which are easier to use and better accepted by the patients. The usefulness of iron chelation in MDS patients is still under debate, mainly because of the lack of solid prospective clinical trials that should take place in the future. This review aims to summarize what is currently known about the incidence and clinical consequences of iron overload in MDS patients and the state-of the-art of iron chelation therapy in this setting. We also give an overview of clinical guidelines for chelation in MDS published to date and some perspectives for the future. PMID:20672005

  15. 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

  16. Review of pharmacological therapies in fibromyalgia syndrome.

    PubMed

    Häuser, Winfried; Walitt, Brian; Fitzcharles, Mary-Ann; Sommer, Claudia

    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

  17. 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

  18. Cognitive - Behavioral Therapy in Central Sensitivity Syndromes.

    PubMed

    Williams, David A

    2016-01-01

    Cognitive-Behavioral Therapy (CBT) is a formal therapeutic approach that encourages selfmanagement of illnesses in accordance with the BioPsychoSocial model. CBT is composed of numerous skills grounded in known principles of behavioral and cognitive change. Each skill is designed to influence one of the facets associated with the perception of pain (i.e., sensory factors, emotional factors, or cognitive factors). Across the various Central Sensitivity Syndromes (CSS), CBT is thought to be beneficial to at least a portion of individuals afflicted. This paper provides a description of CBT, some recommendations for integrating CBT into clinical practice, and a brief review of the evidence supporting the use of CBT with various forms of CSS. PMID:26717953

  19. 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

  20. 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

  1. [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

  2. 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

  3. Systemic therapy of Cushing’s syndrome

    PubMed Central

    2014-01-01

    Cushing’s 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, Cushing’s 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 20–50 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 24 h-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

  4. 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

  5. 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.

  6. 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.

  7. Role of Alternative Therapies for Chronic Pain Syndromes.

    PubMed

    Thomas, Donna-Ann; Maslin, Benjamin; Legler, Aron; Springer, Erin; Asgerally, Abbas; Vadivelu, Nalini

    2016-05-01

    There is increasing interest in the use of complimentary and alternative medicine (CAM) for the treatment of chronic pain. This review examines alternative and complimentary therapies, which can be incorporated as part of a biopsychosocial approach in the treatment of chronic pain syndromes. In the present investigation, literature from articles indexed on PubMed was evaluated including topics of alternative therapies, complimentary therapies, pain psychology, biofeedback therapy, physical exercise therapies, acupuncture, natural and herbal supplements, whole-body cryotherapy, and smartphone technologies in the treatment of chronic pain syndromes. This review highlights the key role of psychology in the treatment of chronic pain. Cognitive behavior therapy appears to be the most impactful while biofeedback therapy has also been shown to be effective for chronic pain. Exercise therapy has been shown to be effective in short-, intermediate-, and long-term pain states. When compared to that in sham controls, acupuncture has shown some benefit for neck pain immediately after the procedure and in the short term and improvement has also been demonstrated in the treatment of headaches. The role of smartphones and whole-body cryotherapy are new modalities and further studies are needed. Recent literature suggests that several alternate therapies could play a role in the treatment of chronic pain, supporting the biopsychosocial model in the treatment of pain states. PMID:27038968

  8. 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

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

    ERIC Educational Resources Information Center

    Gardner, Richard A.

    1999-01-01

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

  10. 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…

  11. Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood.

    PubMed

    Takahashi, Yukitoshi; Yamazaki, Etsuko; Mine, Jun; Kubota, Yuko; Imai, Katsumi; Mogami, Yuki; Baba, Koichi; Matsuda, Kazumi; Oguni, Hirokazu; Sugai, Kenji; Ohtsuka, Yoko; Fujiwara, Tateki; Inoue, Yushi

    2013-09-01

    We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic of RS were evaluated. Regular intravenous immunoglobulin (IVIg) therapy was administered at a dose of 100mg/kg/day, etc. Regular steroid pulse therapy was conducted with methylprednisolone at a dose of 30mg/kg/day (children) or 1000mg/day (adults) for 3days. Tacrolimus was given at an initial dose of 0.1mg/kg/day (children). Mean onset age was 8.7±10.5years. Seizure-free rate was 71% after treatment by functional hemispherectomy (FH), and response rate for seizures was 81% by regular steroid pulse therapy, 42% by tacrolimus therapy, and 23% by regular IVIg therapy. Rate of patients with IQ higher than 80 (R80) was 50% by regular steroid pulse therapy, 43% by regular IVIg therapy, 29% by tacrolimus therapy, and 0% by FH. R80 after regular steroid pulse therapy was 100% in patients without MRI lesions, and 37% in those with advanced MRI lesions. Improvement of motor function (paresis) was observed only by immunomodulatory therapy. Motor function was aggravated in 100% of patients treated by FH, 62% by regular IVIg, and 10% by regular steroid pulse therapy. We suggest a new treatment strategy for RS using early immunomodulatory therapy: initiation of regular steroid pulse therapy after early diagnosis indicated by biomarkers, then switching to tacrolimus therapy after several months. PMID:23433490

  12. 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

  13. 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

  14. 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

  15. Probiotic Therapy for Irritable Bowel Syndrome

    PubMed Central

    Aragon, George; Graham, Deborah B.; Borum, Marie

    2010-01-01

    The etiology of irritable bowel syndrome (IBS) is thought to be multifactorial, with several factors (including alterations in gut motility, small-bowel bacterial overgrowth, microscopic inflammation, and visceral hypersensitivity) potentially playing a role. Recent studies have suggested that probiotics may be useful in the treatment of IBS. Although the exact mechanism for how probiotics may aid in the reduction of symptoms commonly found in IBS is unknown, the effects of probiotics on alterations in gut bacteria appear to play a part. This review focuses on recent studies examining the role of probiotics in the treatment of IBS. PMID:20567539

  16. 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.

  17. Pathogenesis of Hepatorenal Syndrome: Implications for Therapy.

    PubMed

    Durand, François; Graupera, Isabel; Ginès, 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

  18. Classic and recent etiologies of Cushing's syndrome: diagnosis and therapy.

    PubMed

    Beauregard, Catherine; Dickstein, Gabriel; Lacroix, André

    2002-01-01

    Endogenous Cushing's syndrome can result from excess adrenocorticotropic hormone (ACTH; corticotropin) production by a pituitary adenoma (Cushing's disease) or by ectopic tumors secreting ACTH or corticotro- pin-releasing hormone (CRH). ACTH-independent Cushing's syndrome is caused by adrenocortical tumors or hyperplasias. Initial diagnosis is performed using 24-hour urinary free cortisol, low-dose dexamethasone tests, salivary cortisol, or night-time plasma cortisol values. A dexamethasone CRH test can discriminate between Cushing's syndrome and pseudo-Cushing's syndrome. If ACTH is elevated, combinations of high-dose dexamethasone tests, CRH/desmopressin tests, and pituitary magnetic resonance imaging can indicate a pituitary source. Discrimination from an ectopic ACTH tumor often requires inferior petrosal sinus sampling to confirm the ACTH source. If ACTH is low, adrenal computed tomography scan will identify the adrenal lesion(s) implicated. Some cortisol-producing adrenal tumors or, more frequently, bilateral macronodular hyperplasias, are under the control of aberrant membrane hormone receptors, or altered activity of eutopic receptors. The initial therapy of choice for patients with Cushing's disease is the selective transsphenoidal removal of the corticotroph adenoma; this induces remission in approximately 80% of patients, but long-term relapse occurs in up to 30% of these cases. The choice of second-line therapy remains controversial. Repeat surgery can be successful when residual tumor is detectable on magnetic resonance imaging, but carries a high risk of hypopituitarism. Bilateral adrenalectomy may be a better choice in patients without visible residual tumors, particularly in women desiring fertility. Radiotherapy combined with ketoconazole or radiosurgery was recently found effective, but longer-term evaluation of hypopituitarism and brain function is required. Current studies do not support the systematic use of prophylactic radiotherapy after bilateral adrenalectomy to decrease the risk of Nelson's syndrome; however, as soon as the residual tumor progresses, surgery and radiotherapy should be initiated. Various drugs which inhibit steroid synthesis (ketoconazole, metyrapone, aminoglutethimide, mitotane) are often effective for rapidly controlling hypercortisolism either in preparation for surgery, after unsuccessful removal of the etiologic tumor, or while awaiting the full effect of radiotherapy or more definitive therapy. Surgery is usually the treatment of choice for removal of cortisol-secreting adrenal tumors or ectopic ACTH/CRH-secreting tumors. The identification of aberrant adrenal receptors has recently allowed normalization of cortisol secretion by specific ligand receptor antagonists in limited cases of Cushing's syndrome secondary to bilateral macronodular adrenal hyperplasia. The long-term follow-up of patients treated for Cushing's syndrome should include the adequate replacement of glucocorticoids and other hormones, treatment of osteoporosis, and detection of long-term relapse of Cushing's syndrome. PMID:15765624

  19. Diagnosis and therapy of antiphospholipid syndrome.

    PubMed

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

    2015-01-01

    Antiphospholipid syndrome (APS) is a clinical condition that has not been well defined yet. Although the clinical component is well established, the laboratory part is a mood issue. According to current guidelines, 3 tests (lupus anticoagulant, anticardiolipin, and anti β2-glycoprotein I antibodies) are officially recommended to assess the presence of antiphospholipid antibodies. According to test positivity, patients are classified into categories in clinical studies. However, it is now clear that classification categories have a different impact on the clinical course of APS. Indeed, patients and healthy carriers with a full positive antibody profile (triple positivity) are those at the highest risk of events. Patients with a single test positivity are those at a lower risk. In this review, on the basis of a laboratory profile, we grade the diagnosis of APS into definite, probable/possible, and uncertain. We also discuss secondary prevention of thrombotic APS, prevention of pregnancy morbidity, and treatment of catastrophic APS. Finally, new tools in laboratory diagnosis and treatment are highlighted. PMID:26307097

  20. 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.

  1. Iron Chelation Therapy in Thalassemia Syndromes

    PubMed Central

    Cianciulli, Paolo

    2009-01-01

    Transfusional hemosiderosis is a frequent complication in patients with transfusion dependent chronic diseases such as thalassemias and severe type of sickle cell diseases. As there are no physiological mechanisms to excrete the iron contained in transfused red cells (1 unit of blood contains approximately 200 mg of iron) the excess of iron is stored in various organs. Cardiomyopathy is the most severe complication covering more than 70% of the causes of death of thalassemic patients. Although the current reference standard iron chelator deferoxamine (DFO) has been used clinically for over four decades, its effectiveness is limited by a demanding therapeutic regimen that leads to poor compliance. Despite poor compliance, because of the inconvenience of subcutaneous infusion, DFO improved considerably the survival and quality of life of patients with thalassemia. Deferiprone since 1998 and Deferasirox since 2005 were licensed for clinical use. The oral chelators have a better compliance because of oral use, a comparable efficacy to DFO in iron excretion and probably a better penetration to myocardial cells. Considerable increase in iron excretion was documented with combination therapy of DFO and Deferiprone. The proper use of the three chelators will improve the prevention and treatment of iron overload, it will reduce complications, and improve survival and quality of life of transfused patients. PMID:21415999

  2. Restless legs syndrome-current therapies and management of augmentation.

    PubMed

    Trenkwalder, Claudia; Winkelmann, Juliane; Inoue, Yuichi; Paulus, Walter

    2015-08-01

    Idiopathic restless legs syndrome (RLS) can severely affect quality of life and disturb sleep, so that pharmacological treatment is necessary, especially for elderly patients. Treatment guidelines recommend initiation of therapy with dopamine agonists (pramipexole, ropinirole or the rotigotine transdermal patch, all approved in most countries) or α-2-δ ligands (gabapentin enacarbil, approved in the USA and Japan), depending on the country and availability. Where approved, opioids (prolonged release oxycodone-naloxone, approved in Europe) are also recommended as a second-line therapy for severe RLS. Several iron formulations can be effective but are not yet approved for RLS therapy, whereas benzodiazepines and other anticonvulsants are not recommended or approved. Less is known about effective management of RLS that is associated with other conditions, such as uraemia or pregnancy. Furthermore, very little data are available on the management of RLS when first-line treatment fails or patients experience augmentation. In this Review, we summarize state-of-the-art therapies for RLS in the context of the diagnostic criteria and available guidelines, based on knowledge ranging from Class I evidence for the treatment of idiopathic RLS to Class IV evidence for the treatment of complications such as augmentation. We consider therapies, including combination therapies, that are used in clinical practice for long-term management of RLS, despite a lack of trials and approval, and highlight the need for practical long-term evaluation of current trials. PMID:26215616

  3. [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

  4. Irritable bowel syndrome treatment: cognitive behavioral therapy versus medical treatment

    PubMed Central

    Mahvi-Shirazi, Majid; Rasoolzade-Tabatabaei, Sayed-Kazem; Amini, Mohsen

    2012-01-01

    Introduction The study aims to investigate two kinds of treatment in patients suffering from irritable bowel syndrome (IBS) and consequently compares its efficacy on improving the symptoms and mental health of patients; one with just medical treatment and another through a combination of psychotherapy and medical treatment. Material and methods Applying general sampling, 50 IBS patients were selected from among those who used to refer to a Gastroenterology Clinic. After physical and mental evaluations based on ROME-II scale and SCL-90-R questionnaires, the subjects were randomly superseded into: the control group with medical treatment and, the case group with a combination of medical and psychological treatments. The acquired data were then analyzed through t-test and Mann-Whitney U-test. Results The findings show that the mental health of patients receiving cognitive behavioral therapy along with the medical treatment was higher than those of the control group at post-test level. It was observed that the therapy reduces the disability caused by IBS. Comparatively, while the cognitive therapy and medical treatments cured 80% of the patients, those receiving cognitive therapy alone showed an extensive reduction of symptoms. Conclusions Considering the role of cognitive behavioral therapy, it is therefore recommend that such patients be managed by a combined team of gastroenterologists and psychologists. PMID:22457686

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

    MedlinePLUS

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

  6. 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

  7. Macrophage activation syndrome in the era of biologic therapy.

    PubMed

    Grom, Alexei A; Horne, AnnaCarin; De Benedetti, Fabrizio

    2016-05-01

    Macrophage activation syndrome (MAS) refers to acute overwhelming inflammation caused by a 'cytokine storm'. Although increasingly recognized as a life-threatening complication of various rheumatic diseases, clinically, MAS is strikingly similar to primary and secondary forms of haemophagocytic lymphohistiocytosis (HLH). Not surprisingly, many rheumatologists prefer the term secondary HLH rather than MAS to describe this condition, and efforts to change the nomenclature are in progress. The pathophysiology of MAS remains elusive, but observations in animal models, as well as data on the effects of new anticytokine therapies on rates and clinical presentations of MAS in patients with systemic juvenile idiopathic arthritis (sJIA), provide clues to the understanding of this perplexing clinical phenomenon. In this Review, we explore the latest available evidence and discuss potential diagnostic challenges in the era of increasing use of biologic therapies. PMID:27009539

  8. 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

  9. FAILURE OF HYPOMETHYLATING AGENT-BASED THERAPY IN MYELODYSPLASTIC SYNDROMES

    PubMed Central

    Kadia, Tapan M.; Jabbour, Elias; Kantarjian, Hagop

    2014-01-01

    Hypomethylating agents such as 5-azacytidine or decitabine have been a major breakthrough in the treatment of patients with myelodysplastic syndromes (MDS). They have been shown to improve transfusion requirements and change the natural history of the disease. However, with increasing cumulative clinical experience, it has become apparent that these agents are not curative and have their own shortcomings. There are a subgroup of patients who do not respond to frontline therapy and a large, growing cohort of patients that lose response or progress while on hypomethylating agent-based therapy. There are no standard treatment options in this arena and is therefore a focus of significant research interest. Since the mechanisms of resistance to hypomethylating agents are not known, selection of therapy is largely empiric, but must take into account the age, comorbidities, and performance status of the patient as well as the characteristics of the disease at the time treatment failure. Higher intensity approaches and allogeneic stem cell transplant can yield high response rates and long term disease control, but should be limited to a selected cohort of patients who can tolerate the treatment related morbidities. For the majority of patients who will likely be better candidates for lower intensity therapy, several novel, investigational approaches are becoming available. Among these include newer nucleoside analogues, inhibitors of protein tyrosine kinases, molecules that interact with redox signaling within the cell, immunotherapy approaches, and others. Patients with MDS whose disease has failed hypomethylating agent therapy should be referred for clinical trials when available. As we learn more about the patterns and mechanisms of failure, the next challenge will be determining which therapies would be suitable for each individual patient. PMID:21943675

  10. 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…

  11. 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

  12. Cervical Syndrome – the Effectiveness of Physical Therapy Interventions

    PubMed Central

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

    2013-01-01

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

  13. 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

  14. 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

  15. Electroconvulsive therapy in a patient with moyamoya syndrome.

    PubMed

    Ghignone, Erica; Rosenthal, Lisa; Lloyd, Robert Brett; Mouli, Samdeep; Dinwiddie, Stephen

    2015-03-01

    We report on a 30-year-old woman diagnosed with moyamoya syndrome resulting from sickle cell disease who developed catatonia and was successfully treated with electroconvulsive therapy (ECT). Neuroimaging revealed severe tandem narrowing of the left internal carotid artery with diminished cerebral blood flow, moderate narrowing of the right supraclinoid aspect of the right internal carotid artery, and associated numerous lenticulostriate collaterals bilaterally, consistent with moyamoya. The patient presented with mutism; posturing; immobility; stupor; withdrawal; refusal to eat, drink, or speak; and staring, supporting a diagnosis of catatonia. It initially responded to a lorazepam challenge; however, a complicated hospital course and deterioration of the patient's condition, including septic shock, delirium, and continued catatonic symptoms, led to the pursuit of ECT to treat her symptoms. We discuss the risks involved with the administration of ECT in a patient with fragile cerebral vasculature and the successful treatment of catatonia in this patient without resultant stroke or cerebral hemorrhage. PMID:24901428

  16. [Diabetic foot syndrome - pathogenesis, diagnosis, therapy and prevention].

    PubMed

    Brandl, Richard; Stiegler, Hubert

    2015-04-01

    The diabetic foot syndrome (DFS) is a complication of diabetes mellitus, implying a serious impairment in quality of life for patients in advanced stages of the disease. Early detection of risks and stage-appropriate intervention are essential to increase the chances of foot salvage. The pathophysiological conditions for the formation of a DFS and treatment guidelines are currently underestimated. Up to 80 % of amputations are preventable if appropriate therapeutic steps were initiated on time in patients with DFS as part of a multidisciplinary approach. By proper prevention, the number of patients with DFS as well as the risk of recurrent ulcers can be reduced. This CME article gives an overview of the pathogenesis, diagnosis, therapy and prevention of DFS. PMID:25945909

  17. 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

  18. 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

  19. Stroke-like Migraine Attacks after Radiation Therapy Syndrome

    PubMed Central

    Zheng, Qian; Yang, Li; Tan, Li-Ming; Qin, Li-Xia; Wang, Chun-Yu; Zhang, Hai-Nan

    2015-01-01

    Objective: To summarize the clinical presentation, pathogenesis, neuroimaging, treatment, and outcome of stroke-like migraine attacks after radiation therapy (SMART) syndrome, and to propose diagnostic criteria for this disorder. Data Sources: We searched the PubMed database for articles in English published from 1995 to 2015 using the terms of “stroke-like AND migraine AND radiation.” Reference lists of the identified articles and reviews were used to retrieve additional articles. Study Selection: Data and articles related to late-onset effects of cerebral radiation were selected and reviewed. Results: SMART is a rare condition that involves complex migraines with focal neurologic deficits following cranial irradiation for central nervous system malignancies. The recovery, which ranges from hours to days to weeks, can be partial or complete. We propose the following diagnostic criteria for SMART: (1) Remote history of therapeutic external beam cranial irradiation for malignancy; (2) prolonged, reversible clinical manifestations mostly years after irradiation, which may include migraine, seizures, hemiparesis, hemisensory deficits, visuospatial defect, aphasia, confusion and so on; (3) reversible, transient, unilateral cortical gadolinium enhancement correlative abnormal T2 and fluid-attenuated inversion recovery signal of the affected cerebral region; (4) eventual complete or partial recovery, the length of duration of recovery ranging from hours to days to weeks; (5) no evidence of residual or recurrent tumor; (6) not attributable to another disease. To date, no specific treatment has been identified for this syndrome. Conclusions: SMART is an extremely rare delayed complication of brain irradiation. However, improvements in cancer survival rates have resulted in a rise in its frequency. Hence, awareness and recognition of the syndrome is important to make a rapid diagnosis and avoid aggressive interventions such as brain biopsy and cerebral angiography. PMID:26228225

  20. [Treatment of nephrotic syndrome: immuno- or rather podocyte therapy?].

    PubMed

    Lewko, Barbara

    2016-01-01

    Nephrotic syndrome (NS) is a group of clinical symptoms resulting from massive proteinuria caused by impairment of the glomerular filtration barrier. The filtration barrier comprises glomerular basement membrane with endothelial cells lining its inner side and a podocyte monolayer covering its outer aspect. As well as forming part of the glomerular filter, podocytes also regulate synthesis of other components of the filtration barrier. Therefore, integrity of these cells is crucial for maintaining the normal ultrafiltration function. The pathogenesis of idiopathic nephrotic syndrome (INS) was proposed to be associated with autoimmunity and appearance in the circulation of a still unknown protein permeability factor (PF) inducing changes in the glomerular filtration barrier. Several candidate PFs have been identified to date, and current results indicate that podocytes are target cells for all of them. Changes in podocyte structure and functions induced by these factors are typical for changes observed in patients with nephrotic proteinuria. Most pharmacotherapeutic approaches in NS are based on various immunosuppressive agents and are targeted toward minimizing proteinuria. It appears, however, that these drugs not only target the cells of the immune system but also act directly on podocytes. Thus, it can be concluded that detailed studies on mechanisms regulating podocyte functions as well as designing drugs to protect these cells are required for effective therapy of NS. PMID:27180964

  1. 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

  2. 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;…

  3. 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;

  4. New Receptor Targets for Medical Therapy in Irritable Bowel Syndrome

    PubMed Central

    Camilleri, Michael

    2010-01-01

    Background Despite setbacks to the approval of new medications for the treatment of irritable bowel syndrome, interim guidelines on endpoints for IBS trials have enhanced interest as new targets for medical therapy are proposed based on novel mechanisms or chemical entities. Aim To review the approved lubiprostone, two targets that are not meeting expectations (tachykinins and corticotrophin-releasing hormone), the efficacy and safety of new 5-HT4 agonists, intestinal secretagogues (chloride channel activators, and guanylate cyclase-C agonists), bile acid modulation, anti-inflammatory agents and visceral analgesics. Methods Review of selected articles based on PubMed search and clinically relevant information on mechanism of action, safety, pharmacodynamics, and efficacy Conclusions The spectrum of peripheral targets of medical therapy address chiefly the bowel dysfunction of IBS, and these effects are associated with pain relief. There are less clear targets related to the abdominal pain or visceral sensation in IBS. The new 5-HT4 agonists are more specific than older agents, and show cardiovascular safety to date. Secretory agents have high specificity, low bioavailability, and efficacy. The potential risks of agents “borrowed” from other indications (like hyperlipidemia, inflammatory bowel disease or somatic pain) deserve further study. There is reason for optimism in medical treatment of IBS. PMID:19785622

  5. Novel nutraceutic therapies for the treatment of metabolic syndrome.

    PubMed

    Martínez-Abundis, Esperanza; Méndez-Del Villar, Miriam; Pérez-Rubio, Karina G; Zuñiga, Laura Y; Cortez-Navarrete, Marisol; Ramírez-Rodriguez, Alejandra; González-Ortiz, Manuel

    2016-04-10

    Nutraceutic therapies such as berberine, bitter melon, Gymnema sylvestre, Irvingia gabonensis, resveratrol and ursolic acid have been shown to help control metabolic syndrome (MetS). The effect of berberine on glucose and lipid metabolism, hypertension, obesity and MetS has been evaluated in animal models and humans. Most clinical trials involving bitter melon have been conducted to evaluate its effect on glucose metabolism; nevertheless, some studies have reported favorable effects on lipids and blood pressure although there is little information about its effect on body weight. Gymnema sylvestre helps to decrease body weight and blood sugar levels; however, there is limited information on dyslipidemia and hypertension. Clinical trials of Irvingia gabonensis have shown important effects decreasing glucose and cholesterol concentrations as well decreasing body weight. Resveratrol acts through different mechanisms to decrease blood pressure, lipids, glucose and weight, showing its effects on the population with MetS. Finally, there is evidence of positive effects with ursolic acid in in vitro and in vivo studies on glucose and lipid metabolism and on body weight and visceral fat. Therefore, a review of the beneficial effects and limitations of the above-mentioned nutraceutic therapies is presented. PMID:27076875

  6. Novel nutraceutic therapies for the treatment of metabolic syndrome

    PubMed Central

    Martínez-Abundis, Esperanza; Méndez-del Villar, Miriam; Pérez-Rubio, Karina G; Zuñiga, Laura Y; Cortez-Navarrete, Marisol; Ramírez-Rodriguez, Alejandra; González-Ortiz, Manuel

    2016-01-01

    Nutraceutic therapies such as berberine, bitter melon, Gymnema sylvestre, Irvingia gabonensis, resveratrol and ursolic acid have been shown to help control metabolic syndrome (MetS). The effect of berberine on glucose and lipid metabolism, hypertension, obesity and MetS has been evaluated in animal models and humans. Most clinical trials involving bitter melon have been conducted to evaluate its effect on glucose metabolism; nevertheless, some studies have reported favorable effects on lipids and blood pressure although there is little information about its effect on body weight. Gymnema sylvestre helps to decrease body weight and blood sugar levels; however, there is limited information on dyslipidemia and hypertension. Clinical trials of Irvingia gabonensis have shown important effects decreasing glucose and cholesterol concentrations as well decreasing body weight. Resveratrol acts through different mechanisms to decrease blood pressure, lipids, glucose and weight, showing its effects on the population with MetS. Finally, there is evidence of positive effects with ursolic acid in in vitro and in vivo studies on glucose and lipid metabolism and on body weight and visceral fat. Therefore, a review of the beneficial effects and limitations of the above-mentioned nutraceutic therapies is presented. PMID:27076875

  7. 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

  8. Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

    PubMed

    Estrada-Cuzcano, Alejandro; Roepman, Ronald; Cremers, Frans P M; den Hollander, Anneke I; Mans, Dorus A

    2012-10-15

    Homozygosity mapping and exome sequencing have accelerated the discovery of gene mutations and modifier alleles implicated in inherited retinal degeneration in humans. To date, 158 genes have been found to be mutated in individuals with retinal dystrophies. Approximately one-third of the gene defects underlying retinal degeneration affect the structure and/or function of the 'connecting cilium' in photoreceptors. This structure corresponds to the transition zone of a prototypic cilium, a region with increasing relevance for ciliary homeostasis. The connecting cilium connects the inner and outer segments of the photoreceptor, mediating bi-directional transport of phototransducing proteins required for vision. In fact, the outer segment, connecting cilium and associated basal body, forms a highly specialized sensory cilium, fully dedicated to photoreception and subsequent signal transduction to the brain. At least 21 genes that encode ciliary proteins are implicated in non-syndromic retinal dystrophies such as cone dystrophy, cone-rod dystrophy, Leber congenital amaurosis (LCA), macular degeneration or retinitis pigmentosa (RP). The generation and characterization of vertebrate retinal ciliopathy animal models have revealed insights into the molecular disease mechanism which are indispensable for the development and evaluation of therapeutic strategies. Gene augmentation therapy has proven to be safe and successful in restoring long-term sight in mice, dogs and humans suffering from LCA or RP. Here, we present a comprehensive overview of the genes, mutations and modifier alleles involved in non-syndromic retinal ciliopathies, review the progress in dissecting the associated retinal disease mechanisms and evaluate gene augmentation approaches to antagonize retinal degeneration in these ciliopathies. PMID:22843501

  9. 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

  10. 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

  11. 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

  12. Severe acute respiratory syndrome: pertinent clinical characteristics and therapy.

    PubMed

    File, Thomas M; Tsang, Kenneth W T

    2005-01-01

    Severe acute respiratory syndrome (SARS) is a newly emerged infection that is caused by a previously unrecognized virus - a novel coronavirus designated as SARS-associated coronavirus (SARS-CoV). From November 2002 to July 2003 the cumulative number of worldwide cases was >8000, with a mortality rate of close to 10%. The mortality has been higher in older patients and those with co-morbidities. SARS has been defined using clinical and epidemiological criteria and cases are considered laboratory-confirmed if SARS coronavirus is isolated, if antibody to SARS coronavirus is detected, or a polymerase chain reaction test by appropriate criteria is positive. At the time of writing (24 May 2004), no specific therapy has been recommended. A variety of treatments have been attempted, but there are no controlled data. Most patients have been treated throughout the illness with broad-spectrum antimicrobials, supplemental oxygen, intravenous fluids, and other supportive measures. Transmission of SARS is facilitated by close contact with patients with symptomatic infection. The majority of cases have been reported among healthcare providers and family members of SARS patients. Since SARS-CoV is contagious, measures for prevention center on avoidance of exposure, and infection control strategies for suspected cases and contacts. This includes standard precautions (hand hygiene), contact precautions (gowns, goggles, gloves) and airborne precautions (negative pressure rooms and high efficiency masks). In light of reports of new cases identified during the winter of 2003-4 in China, it seems possible that SARS will be an important cause of pneumonia in the future, and the screening of outpatients at risk for SARS may become part of the pneumonia evaluation. PMID:15813661

  13. Metabolic syndrome-related hepatocellular carcinoma treated by volumetric modulated arc therapy.

    PubMed

    Klein, J; Dawson, L A; Tran, T H; Adeyi, O; Purdie, T; Sherman, M; Brade, A

    2014-04-01

    Hepatocellular carcinoma (hcc) is a leading cause of cancer mortality, and its incidence is increasing in developed countries. Risk factors include cirrhosis from viral hepatitis or alcohol abuse. Metabolic syndrome is a newly recognized, but important, risk factor that is likely contributing to the increased incidence of hcc. Surgery is the therapy of choice for hcc, but local therapies are often contraindicated, usually because of advanced disease or comorbid conditions such as cardiac disease (which is associated with metabolic syndrome). Current radiation therapy techniques such as stereotactic body radiotherapy allow for treatment plans that highly conform to the target and provide excellent sparing of normal structures. Radiation therapy is emerging as a viable option in patients not eligible for surgery or other locoregional therapies. Here, we report a case of a large hcc presenting in a patient with metabolic syndrome without significant alcohol history or biochemical liver dysfunction. The patient was not a candidate for locoregional therapies because of cardiac and renal comorbidities typical of patients experiencing the long-term sequelae of metabolic syndrome. Treatment using an arc-based volumetric-modulated arc therapy technique allowed for the highest dose of radiation to be delivered to the tumour while the peripheral radiation dose was minimized. A complete local response was confirmed by computed tomography imaging 21 months after treatment completion. PMID:24764717

  14. New and emerging therapies for the treatment of irritable bowel syndrome: an update for gastroenterologists

    PubMed Central

    Foxx-Orenstein, Amy E.

    2016-01-01

    Irritable bowel syndrome is a functional bowel disorder with gastrointestinal symptoms (e.g. abdominal pain, straining, urgency, incomplete evacuation, nausea, and bloating) that occur alongside bowel function alterations (i.e. constipation, diarrhea, or both). Patients with irritable bowel syndrome may also experience comorbid anxiety and depression. Irritable bowel syndrome is common, with a prevalence estimated between 3% and 28%, affecting patient health and quality of life. Patients with moderate or severe irritable bowel syndrome generally seek medical care, whereas those with milder symptoms may choose self-management. Most patients with irritable bowel syndrome receive outpatient care, but irritable bowel syndrome-related hospitalizations do occur. The pathophysiology of irritable bowel syndrome is multifactorial (i.e. genetics, immune components, changes in the gut microbiota, disturbances in physiologic stress response systems, and psychosocial factors). Management of irritable bowel syndrome can include lifestyle changes, dietary interventions, counseling, psychologic medication, and agents that affect gastrointestinal motility. A number of therapies have emerged in recent years with clinical trial data demonstrating efficacy and safety for patients with irritable bowel syndrome, including agents that target gastrointestinal motility (i.e. linaclotide), gastrointestinal opioid receptors (i.e. asimadoline, eluxadoline), and gut microbiota (i.e. rifaximin). Linaclotide has been shown to significantly improve stool frequency and abdominal pain compared with placebo in constipation-predominant irritable bowel syndrome (number needed to treat, 5.1). Asimadoline shows efficacy in patients with moderate-to-severe irritable bowel syndrome-related pain. Rifaximin provided adequate relief of global irritable bowel syndrome symptoms versus placebo for a significantly greater percentage of patients with diarrhea-predominant irritable bowel syndrome (p < 0.001). Management that encompasses all aspects of irritable bowel syndrome (gastrointestinal symptoms) and comorbid psychologic symptoms (e.g. anxiety or depression) is important for improving overall patient health and well-being. PMID:27134665

  15. New and emerging therapies for the treatment of irritable bowel syndrome: an update for gastroenterologists.

    PubMed

    Foxx-Orenstein, Amy E

    2016-05-01

    Irritable bowel syndrome is a functional bowel disorder with gastrointestinal symptoms (e.g. abdominal pain, straining, urgency, incomplete evacuation, nausea, and bloating) that occur alongside bowel function alterations (i.e. constipation, diarrhea, or both). Patients with irritable bowel syndrome may also experience comorbid anxiety and depression. Irritable bowel syndrome is common, with a prevalence estimated between 3% and 28%, affecting patient health and quality of life. Patients with moderate or severe irritable bowel syndrome generally seek medical care, whereas those with milder symptoms may choose self-management. Most patients with irritable bowel syndrome receive outpatient care, but irritable bowel syndrome-related hospitalizations do occur. The pathophysiology of irritable bowel syndrome is multifactorial (i.e. genetics, immune components, changes in the gut microbiota, disturbances in physiologic stress response systems, and psychosocial factors). Management of irritable bowel syndrome can include lifestyle changes, dietary interventions, counseling, psychologic medication, and agents that affect gastrointestinal motility. A number of therapies have emerged in recent years with clinical trial data demonstrating efficacy and safety for patients with irritable bowel syndrome, including agents that target gastrointestinal motility (i.e. linaclotide), gastrointestinal opioid receptors (i.e. asimadoline, eluxadoline), and gut microbiota (i.e. rifaximin). Linaclotide has been shown to significantly improve stool frequency and abdominal pain compared with placebo in constipation-predominant irritable bowel syndrome (number needed to treat, 5.1). Asimadoline shows efficacy in patients with moderate-to-severe irritable bowel syndrome-related pain. Rifaximin provided adequate relief of global irritable bowel syndrome symptoms versus placebo for a significantly greater percentage of patients with diarrhea-predominant irritable bowel syndrome (p < 0.001). Management that encompasses all aspects of irritable bowel syndrome (gastrointestinal symptoms) and comorbid psychologic symptoms (e.g. anxiety or depression) is important for improving overall patient health and well-being. PMID:27134665

  16. 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,…

  17. 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

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

    PubMed

    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

    2014-12-01

    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

  19. 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.

  20. SMART syndrome: a late reversible complication after radiation therapy for brain tumours.

    PubMed

    Kerklaan, Joost P; Lycklama á Nijeholt, Geert J; Wiggenraad, Ruud G J; Berghuis, Bianca; Postma, Tjeerd J; Taphoorn, Martin J B

    2011-06-01

    With intensified treatment leading to longer survival, complications of therapy for brain tumours are more frequently observed. Regarding radiation therapy, progressive and irreversible white matter disease with cognitive decline is most feared. We report on four patients with reversible clinical and radiological features occurring years after radiation for brain tumours, suggestive for the so called SMART syndrome (stroke-like migraine attacks after radiation therapy). All four patients (males, age 36-60 years) had been treated with focal brain radiation for a primary brain tumour or with whole-brain radiation therapy for brain metastases. Ranging from 2 to 10 years following radiation therapy patients presented with headache and focal neurological deficits, suggestive for tumour recurrence. Two patients also presented with focal seizures. MRI demonstrated typical cortical swelling and contrast enhancement, primarily in the parieto-occipital region. On follow-up both clinical and MRI features improved spontaneously. Three patients eventually proved to have tumour recurrence. The clinical and radiological picture of these patients is compatible with the SMART syndrome, a rare complication of radiation therapy which is probably under recognized in brain tumour patients. The pathophysiology of the SMART syndrome is poorly understood but bears similarities with the posterior reversible encephalopathy syndrome (PRES). These four cases underline that the SMART syndrome should be considered in patients formerly treated with radiation therapy for brain tumours, who present with new neurologic deficits. Before the diagnosis of SMART syndrome can be established other causes, such as local tumour recurrence, leptomeningeal disease or ischemic disease should be ruled out. PMID:21373901

  1. Effects of various drug therapies on Kleine-Levin syndrome: a case report.

    PubMed

    Yao, Chi-Chun; Lin, Ying; Liu, Hui-Ching; Lee, Chau-Shoun

    2013-01-01

    Kleine-Levin syndrome (KLS) is a rare sleep disorder, predominantly affecting adolescent males, which presents as recurrent episodes of hypersomnia, behavioral and cognitive disturbances, hyperphagia and sometimes hypersexuality (Lisk, "Kleine-Levin syndrome." Pract Neurol 2009;9:42-45). Modafinil has been reported to show an effect in shortening the duration of symptomatic periods, but does not affect the recurrence rate (Huang et al., "Kleine-Levin syndrome: current status." Med Clin N Am 2010;94:557-562). However, no single drug therapy has been consistently successful, despite various psychotropic agents, including lithium, anticonvulsants and antidepressants, having been systematically tried (Arnulf et al., "Kleine-Levin syndrome: a systematic study of 108 patients." Ann Neurol 2008;63:482-492). This study reports a male adolescent with KLS who received several courses of drug therapy, providing a chance to compare differential drug effects over time. PMID:22520717

  2. [Early therapy of an apallic syndrome in childhood].

    PubMed

    Dietze, R A; Schoeppner, H

    1977-01-01

    The various phenomenal forms of apallic syndromes are described from an etiological point of view, and it is shown that remission may be expected only in cases of apallic syndromes occurring as a result of acute traumatic, inflammatory, and metabolic and toxic processes. It is only in such cases that the use of all available means of reanimation treatment is fully justifiable. The most important aspects of maintaining vital functions especially in the initial stage as well as in the transitional phase of the apallic syndrome are described by the authors who also emphasize the necessity for continuous integrative cooperation between anesthetists and specialists in pediatric neuropsychiatry. PMID:122467

  3. Direct acting antiviral therapy is curative for chronic hepatitis C/autoimmune hepatitis overlap syndrome

    PubMed Central

    Sahebjam, Farhad; Hajdu, Cristina H; Nortey, Esther; Sigal, Samuel H

    2016-01-01

    Autoimmune phenomena are common in patients with chronic hepatitis C. Management of chronic hepatitis C/autoimmune hepatitis syndrome has until recently been problematic due to the adverse effects of interferon on autoimmune processes and immunosuppression on viral replication. In this report we describe 3 patients with chronic hepatitis C/autoimmune hepatitis overlap syndrome who responded rapidly to direct acting anti-viral therapy. The resolution of the autoimmune process supports a direct viral role in its pathophysiology. PMID:27190580

  4. Direct acting antiviral therapy is curative for chronic hepatitis C/autoimmune hepatitis overlap syndrome.

    PubMed

    Sahebjam, Farhad; Hajdu, Cristina H; Nortey, Esther; Sigal, Samuel H

    2016-05-18

    Autoimmune phenomena are common in patients with chronic hepatitis C. Management of chronic hepatitis C/autoimmune hepatitis syndrome has until recently been problematic due to the adverse effects of interferon on autoimmune processes and immunosuppression on viral replication. In this report we describe 3 patients with chronic hepatitis C/autoimmune hepatitis overlap syndrome who responded rapidly to direct acting anti-viral therapy. The resolution of the autoimmune process supports a direct viral role in its pathophysiology. PMID:27190580

  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. 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

  7. 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

  8. 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

  9. [The role of horse-therapy in improvement of children with Down syndrome].

    PubMed

    Klimberg, Aneta

    2002-01-01

    Many years of experience in horse-therapy show that this is the efficient method of rehabilitation of disabled children, also with Down syndrome. This method improves not only proficiency, but also mental sphere and social functions of children. 3 cases of children with Down syndrome in age 7-8 years rehabilitated by horse-therapy, and other methods (physical exercises, swimming, talking exercises) through 1-3 year have been described. In every case adding horse-therapy to other methods of rehabilitation gave measurable advantages both in physical sphere and also in mental and social spheres. In parents' opinion disabled children are highly motivated to take part in the classes of horse-therapy. It should be emphasized that in every described case we have seen high involvement of parents in rehabilitation process. PMID:17474591

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

    PubMed

    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

  11. 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

  12. 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

  13. 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…

  14. Dopaminergic Therapy for Restless Legs Syndrome/Willis-Ekbom Disease.

    PubMed

    Zak, Rochelle S; Walters, Arthur S

    2015-09-01

    Dopaminergic therapies have been a mainstay of restless legs treatment and are endorsed as first-line therapies by multiple professional societies. This article summarizes the differences and similarities among the dopamine agonists with attention to pharmacology, efficacy, side effects, and dosing. PMID:26329437

  15. 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…

  16. 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.

  17. 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…

  18. 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,…

  19. 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

  20. 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…

  1. 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.

  2. 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…

  3. 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…

  4. Hunter syndrome follow-up after 1 year of enzyme-replacement therapy

    PubMed Central

    Puiu, Maria; Chiriţă-Emandi, Adela; Dumitriu, Simona; Arghirescu, Smaranda

    2013-01-01

    Mucopolysaccharidosis II (Hunter syndrome) is a rare x-linked disorder caused by a deficiency in the lysosomal enzyme iduronate-2-sulphatase, leading to an accumulation of the glycosaminoglycans (GAGs) dermatansulphate and heparan sulphate. The consequence of GAGs accumulation is progressive, multiorgan disease. Enzyme-replacement therapy is hypothesised to result in disease stabilisation and improved prognosis. We present a severe case of Hunter syndrome diagnosed at age 2 years and 4 months, who started enzyme-replacement therapy at the age of 3 years and 3 months. We report his evolution after 1 year of treatment. The treatment response was good and there was significant improvement in the quality of life. Owing to the rarity of Hunter syndrome, the multisystem nature and the heterogeneity of disease progression, patient care implies interdisciplinary consultations with a wide range of specialists. The best management can be provided in reference centres for metabolic diseases. PMID:23307460

  5. Medicinal leech therapy in pain syndromes: a narrative review.

    PubMed

    Koeppen, Detlev; Aurich, Michael; Rampp, Thomas

    2014-03-01

    Medicinal leech therapy is used in a variety of conditions; most of which have pain as a major symptom. Its mode of action relies on the injection of leech saliva into patients' tissues during the process of blood withdrawal. Leech saliva contains active ingredients with anti-inflammatory, thrombolytic, anti-coagulant and blood- and lymph-circulation enhancing properties. A specific analgesic substance within the leech saliva is yet to be identified. Pain relief from leech therapy is rapid, effective and long-lasting in many conditions. This review compiles studies and case reports that provide clinical evidence for leech therapy's analgesic effects. PMID:24081747

  6. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.

    PubMed

    Thomas, J A; Jacobs, S; Kierstein, J; Van Hove, J

    2006-12-01

    Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-L-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient. PMID:17089217

  7. 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

  8. 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

  9. [Diagnostics and therapy of the diabetic foot syndrome from a vascular surgery perspective].

    PubMed

    Rümenapf, G; Morbach, S; Lang, W

    2009-12-01

    There are more than 6 million diabetic patients in Germany. Due to neuropathic and angiopathic long term damage the number of patients with diabetic foot syndrome has been increasing dramatically over the past years. Despite all efforts for prevention, early diagnosis and adequate therapy, more than 20,000 diabetics undergo major limb amputation in Germany every year. A major portion of these amputations could be avoided if an improvement of the arterial perfusion would be timely considered. By consequent therapy in interdisciplinary centres, and by applying all methods of arterial revascularization, the amputation rate in patients with diabetic foot problems could be reduced by 80%. This article describes the diagnostics and therapy of the diabetic foot syndrome from a vascular surgical point of view. The importance of endovascular, vascular surgical as well as combined (hybrid) procedures of revascularization is emphasized. PMID:19898833

  10. Massage Therapy Protocol for Post–Anterior 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 post–anterior cruciate ligament reconstruction patellofemoral pain syndrome. The primary complications following surgical repair of the anterior cruciate ligament—classified as patellofemoral pain syndrome—are 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

  11. Aquaporin gene therapy corrects Sjögren's syndrome phenotype in mice.

    PubMed

    Lai, Zhennan; Yin, Hongen; Cabrera-Pérez, Javier; Guimaro, Maria C; Afione, Sandra; Michael, Drew G; Glenton, Patricia; Patel, Ankur; Swaim, William D; Zheng, Changyu; Nguyen, Cuong Q; Nyberg, Fred; Chiorini, John A

    2016-05-17

    Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease that is estimated to affect 35 million people worldwide. Currently, no effective treatments exist for Sjögren's syndrome, and there is a limited understanding of the physiological mechanisms associated with xerostomia and hyposalivation. The present work revealed that aquaporin 5 expression, a water channel critical for salivary gland fluid secretion, is regulated by bone morphogenetic protein 6. Increased expression of this cytokine is strongly associated with the most common symptom of primary Sjögren's syndrome, the loss of salivary gland function. This finding led us to develop a therapy in the treatment of Sjögren's syndrome by increasing the water permeability of the gland to restore saliva flow. Our study demonstrates that the targeted increase of gland permeability not only resulted in the restoration of secretory gland function but also resolved the hallmark salivary gland inflammation and systemic inflammation associated with disease. Secretory function also increased in the lacrimal gland, suggesting this local therapy could treat the systemic symptoms associated with primary Sjögren's syndrome. PMID:27140635

  12. 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

  13. 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

  14. 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

  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. Growth hormone therapy and bone mineral density in Turner syndrome.

    PubMed

    Bakalov, Vladimir K; Van, Phillip L; Baron, Jeffrey; Reynolds, James C; Bondy, Carolyn A

    2004-10-01

    In a previous report, preliminary data showed a significant reduction in cortical bone mineral density (BMD) in women with Turner syndrome that had been treated with GH compared with women with Turner syndrome that had not been treated. To clarify this point, we have investigated the effects of GH treatment at multiple sites in this case-control, cross-sectional study. There were 23 women per group, who were similar in age, height, body mass index, estrogen use, and ethnic makeup. Median age (range) at start and duration of GH treatment was 9 (3-17) and 5 (2-9) yr, respectively. GH-treated women had a slightly greater ( approximately 8%, P = 0.03) width of the radial shaft, but otherwise there were no significant differences between groups in bone dimensions or BMD at the distal radius, lumbar spine, or femoral neck. Furthermore, regression analysis in a linear model including independent variables of age, age at diagnosis, body mass index, presence of spontaneous puberty, and GH use confirmed that GH use did not contribute to variation in BMD. PMID:15472180

  18. 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

  19. Is riluzole a potential therapy for Rett syndrome?

    PubMed

    Tsai, Shih-Jen

    2015-07-01

    Rett syndrome (RTT) is a severe neurodevelopmental disorder with autistic features and is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2) in the majority of cases. Besides symptomatic treatment, no therapeutic trials have shown effectiveness for RTT. Some perspectives in the treatment of RTT have been provided by recent works showing a phenotypic reversal by increasing brain-derived neurotrophic factor (BDNF) expression in a RTT mouse model. Glutamate may also play an important role in the primary pathogenesis in Rett syndrome through the excitotoxic neuronal injury in experimental models. Riluzole, an agent currently approved for the treatment of amyotrophic lateral sclerosis, is a glutamatergic modulator and BDNF enhancer with neuroprotective properties. For these reasons, riluzole could potentially play an important role in the treatment of RTT symptoms. Several points regarding the use of riluzole in RTT are discussed. Further evaluation of the therapeutic effects of this agent in RTT animal models is needed before clinical trials can begin. PMID:25858436

  20. 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

  1. 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

  2. Aggravation of eyelid and conjunctival malignancies following photodynamic therapy in DeSanctis-Cacchione syndrome.

    PubMed

    Procianoy, Fernando; Cruz, Antonio A V; Baccega, Adriano; Ferraz, Victor; Chahud, Fernando

    2006-01-01

    A 5-year-old girl with DeSanctis-Cacchione syndrome (a severe variant of xeroderma pigmentosum) was referred for evaluation of multiple eyelid and bulbar conjunctival squamous cell carcinomas. Examination evidenced multiple vegetating lesions on the eyelid, bulbar conjunctiva, and cornea of both eyes. As the lesions were considered not to be manageable by surgical excision and would have required exenteration, photodynamic therapy was performed on the patient's left eye. Three months after photodynamic therapy, the patient presented with a dramatic increase in the extension of the tumors. Since xeroderma pigmentosum is a DNA repair disorder, the radiation involved in photodynamic therapy probably played an iatrogenic role in the evolution of the case. We believe that photodynamic therapy may be harmful to patients with DNA repair disorders. PMID:17117119

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

    PubMed

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

    2015-11-01

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

  4. 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

  5. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome.

    PubMed

    Takasumi, Mika; Hikichi, Takuto; Takagi, Tadayuki; Sato, Masaki; Suzuki, Rei; Watanabe, Ko; Nakamura, Jun; Sugimoto, Mitsuru; Waragai, Yuichi; Kikuchi, Hitomi; Konno, Naoki; Watanabe, Hiroshi; Obara, Katsutoshi; Ohira, Hiromasa

    2014-12-16

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome (BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal (GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injection needle to reduce the pressure within it. Finally, argon plasma coagulation (APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic therapy, the esophageal ulcer healed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC. PMID:25512774

  6. 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

  7. 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

  8. Guidelines on iron chelation therapy in patients with myelodysplastic syndromes and transfusional iron overload.

    PubMed

    Gattermann, Norbert

    2007-12-01

    Experts believe that iron overload is an important problem which could be avoided with suitable treatment. Guidelines on treating myelodysplastic syndromes (MDS) include sections on using iron chelation therapy to prevent or ameliorate transfusional iron overload. The proportion of MDS patients who may benefit from iron chelation therapy is 35-55%, depending on the length of survival necessary for iron to accumulate to a detrimental level. Candidates for iron chelation are mainly patients with dyserythropoietic and cytopenic subtypes of disease, which fall into the International Prognostic Scoring System (IPSS) Low-risk or Intermediate-1-risk categories, with median survival of 3-6 years. PMID:18037413

  9. Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome

    PubMed Central

    McCauley, Mark D.; Wang, Tiannan; Mike, Elise; Herrera, Jose; Beavers, David L.; Huang, Teng-Wei; Ward, Christopher S.; Skinner, Steven; Percy, Alan K.; Glaze, Daniel G.; Wehrens, Xander H. T.; Neul, Jeffrey L.

    2013-01-01

    Rett Syndrome is a neurodevelopmental disorder typically caused by mutations in Methyl-CpG-Binding Protein 2 (MECP2) in which 26% of deaths are sudden and of unknown cause. To explore the hypothesis that these deaths may be due to cardiac dysfunction, we characterized the electrocardiograms (ECGs) in 379 people with Rett syndrome and found that 18.5% show prolongation of the corrected QT interval (QTc), indicating a repolarization abnormality that can predispose to the development of an unstable fatal cardiac rhythm. Male mice lacking MeCP2 function, Mecp2Null/Y, also have prolonged QTc and show increased susceptibility to induced ventricular tachycardia. Female heterozygous null mice, Mecp2Null/+, show an age-dependent prolongation of QTc associated with ventricular tachycardia and cardiac-related death. Genetic deletion of MeCP2 function in only the nervous system was sufficient to cause long QTc and ventricular tachycardia, implicating neuronally-mediated changes to cardiac electrical conduction as a potential cause of ventricular tachycardia in Rett syndrome. The standard therapy for prolonged QTc in Rett syndrome, β-adrenergic receptor blockers, did not prevent ventricular tachycardia in Mecp2Null/Y mice. To determine whether an alternative therapy would be more appropriate, we characterized cardiomyocytes from Mecp2Null/Y mice and found increased persistent sodium current, which was normalized when cells were treated with the sodium channel-blocking anti-seizure drug phenytoin. Treatment with phenytoin reduced both QTc and sustained ventricular tachycardia in Mecp2Null/Y mice. These results demonstrate that cardiac abnormalities in Rett syndrome are secondary to abnormal nervous system control, which leads to increased persistent sodium current. Our findings suggest that treatment in people with Rett syndrome would be more effective if it targeted the increased persistent sodium current in order to prevent lethal cardiac arrhythmias. PMID:22174313

  10. 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

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

    PubMed

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

    2009-01-01

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

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

    PubMed Central

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

    2009-01-01

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

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

    PubMed

    Michałowicz, R; Ignatowicz, R; Kmieć, T; Kuczyński, D

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

  14. 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

  15. Overview of guidelines on iron chelation therapy in patients with myelodysplastic syndromes and transfusional iron overload

    PubMed Central

    2008-01-01

    Between 2002 and 2008, a number of consensus statements and guidelines were developed by various groups around the world to educate healthcare professionals on the treatment of myelodysplastic syndromes (MDS), including the management of transfusional iron overload with iron chelation therapy. Guidelines have been developed by The Italian Society of Hematology, The UK MDS Guidelines Group, The Nagasaki Group, The National Comprehensive Cancer Network, and The MDS Foundation. These guidelines show that the approaches to managing iron overload in patients with MDS are region specific, differing in their recommendations for when iron chelation therapy should be initiated and strategies for the ongoing management of iron overload. The guidelines all agree that red blood cell transfusions are clinically beneficial to treat the symptomatic anemia in MDS, and that patients with low-risk MDS receiving transfusions are the most likely to benefit from iron chelation therapy. PMID:18581200

  16. Overview of guidelines on iron chelation therapy in patients with myelodysplastic syndromes and transfusional iron overload.

    PubMed

    Gattermann, Norbert

    2008-07-01

    Between 2002 and 2008, a number of consensus statements and guidelines were developed by various groups around the world to educate healthcare professionals on the treatment of myelodysplastic syndromes (MDS), including the management of transfusional iron overload with iron chelation therapy. Guidelines have been developed by The Italian Society of Hematology, The UK MDS Guidelines Group, The Nagasaki Group, The National Comprehensive Cancer Network, and The MDS Foundation. These guidelines show that the approaches to managing iron overload in patients with MDS are region specific, differing in their recommendations for when iron chelation therapy should be initiated and strategies for the ongoing management of iron overload. The guidelines all agree that red blood cell transfusions are clinically beneficial to treat the symptomatic anemia in MDS, and that patients with low-risk MDS receiving transfusions are the most likely to benefit from iron chelation therapy. PMID:18581200

  17. High-dose enzyme replacement therapy in murine Hurler syndrome.

    PubMed

    Ou, Li; Herzog, Tyler; Koniar, Brenda L; Gunther, Roland; Whitley, Chester B

    2014-02-01

    Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease that is systemic, including progressive neurodegeneration, mental retardation and death before the age of 10 years. MPS I results from deficiency of α-L-iduronidase (IDUA) in lysosomes and subsequent accumulation of glycosaminoglycans (GAG). Clinical enzyme replacement therapy (ERT) with intravenous laronidase reverses some aspects of MPS I disease (e.g., hepatomegaly, splenomegaly, glycosaminoglycanuria) and ameliorates others (e.g., pulmonary function, cardiac disease, arthropathy, exercise tolerance). However, neurologic benefits are thought to be negligible because the blood-brain barrier (BBB) blocks enzyme from reaching the central nervous system (CNS). We considered the possibility that a very high dose of intravenous laronidase might be able to traverse the BBB in small quantities, and provide some metabolic correction in the brain. To address this question, high-dose laronidase was administered (11.6 mg/kg, once per week, 4 weeks) to adult MPS I mice. IDUA enzyme activity in the cortex of treated mice increased to 97% of that in wild type mice (p<0.01). GAG levels in cortex were reduced by 63% of that from untreated MPS I mice (p<0.05). Further, immunohistochemical analysis showed that treatment reduced secondary GM3-ganglioside accumulation in treated MPS I mice. Water T-maze tests showed that the learning abnormality in MPS I mice was reduced (p<0.0001). In summary, repeated, high-dose ERT facilitated laronidase transit across the BBB, reduced GAG accumulation within the CNS, and rescued cognitive impairment. PMID:24100243

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

    PubMed Central

    Maneerattaporn, Monthira; Saad, Richard

    2011-01-01

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

  19. 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

  20. Phonological awareness abilities of a child with acquired immunodeficiency syndrome before and after speech therapy.

    PubMed

    Furlan, Suzana Aparecida; Fukuda, Marisa Tomoe Hebihara; Granzotti, Raphaela Barroso Guedes

    2012-01-01

    The aim of the present study was to characterize the phonological awareness abilities of a child with Acquired Immunodeficiency Syndrome (AIDS) before and after speech-language therapy. The participant was a 6-year-old girl, first-grade Elementary School student, with AIDS acquired by vertical transmission. The child's phonological awareness abilities were evaluated using the Instrument of Sequential Evaluation of Phonological Awareness (CONFIAS). After this first evaluation, a closed therapeutic program (15 sessions) for phonological awareness was developed, consisting of activities for syllabic and phonemic levels. The CONFIAS was reapplied in the last session in order to investigate therapy effectiveness. In the pre-therapy assessment, the child scored 18 points in syllable tasks and 1 point in phoneme tasks, with a total score of 19 points. In the post-therapy assessment, the child scored 26 points in syllable tasks and 11 points in phoneme tasks, with a total score of 37 points. This study allowed us to characterize the performance of a child with AIDS in tasks of phonological awareness and the effectiveness of the therapeutic program. The score obtained before therapy was much lower than expected for the child's age, and presented significant improvement after speech-language therapy. Thus, professionals working with this population must be aware of therapeutic programs that approach phonological processing abilities in addition to other aspects. PMID:22460378

  1. Antioxidant Effects of Potassium Ascorbate with Ribose Therapy in a Case with Prader Willi Syndrome

    PubMed Central

    Anichini, C.; Lotti, F.; Longini, M.; Proietti, F.; Felici, C.; Perrone, S.; Buonocore, G.

    2012-01-01

    Oxidative stress (OS) is involved in several human diseases, including obesity, diabetes, atherosclerosis, carcinogenesis, as well as genetic diseases. We previously found that OS occurs in Down Syndrome as well as in Beckwith-Wiedemann Syndrome (BWS). Here we describe the clinical case of a female patient with Prader Willi Syndrome (PWS), a genomic imprinting disorder, characterized by obesity, atherosclerosis and diabetes mellitus type 2, pathologies in which a continuous and important production of free radicals takes place. We verified the presence of OS by measuring a redox biomarkers profile including total hydroperoxides (TH), non protein-bound iron (NPBI), thiols (SH), advanced oxidation protein products (AOPP) and isoprostanes (IPs). Thus we introduced in therapy an antioxidant agent, namely potassium ascorbate with ribose (PAR), in addition to GH therapy and we monitored the redox biomarkers profile for four years. A progressive decrease in OS biomarkers occurred until their normalization. In the meantime a weight loss was observed together with a steady growth in standards for age and sex. PMID:22960339

  2. The antiphospholipid syndrome as a disorder initiated by inflammation: implications for the therapy of pregnant patients.

    PubMed

    Salmon, Jane E; Girardi, Guillermina; Lockshin, Michael D

    2007-03-01

    Arterial thrombosis, venous thrombosis and morbidity during pregnancy, or a combination of these events, are clinical outcomes associated with antiphospholipid antibodies produced by patients with antiphospholipid syndrome (APS). Our understanding of the etiology and pathogenesis of the syndrome is limited, but it has generally been considered a thrombophilic disease and treatment has focused on anticoagulation. Agents such as aspirin and heparin, administered alone or in combination, are empirical treatments that are used in the management of obstetric patients with APS. Clinical features, such as heart valve abnormalities, thrombocytopenia and livedo reticularis, suggest multiple pathogenic mechanisms and provide other therapeutic targets. Findings from research in animal models of APS challenge the dogma that this syndrome is a noninflammatory, thrombotic disease and provide evidence that activation of complement is crucial for complications in pregnancy. These studies, in addition to evidence of inflammatory-mediated tissue damage in placentae of patients with APS, suggest that therapy should also be directed towards preventing inflammation. This Review describes the potential mechanisms of tissue injury by antiphospholipid antibodies, the management of pregnant patients with APS and how heparin therapy might inhibit the pathogenic mediators of disease. PMID:17334336

  3. 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

  4. Antioxidant effects of potassium ascorbate with ribose therapy in a case with Prader Willi Syndrome.

    PubMed

    Anichini, C; Lotti, F; Longini, M; Proietti, F; Felici, C; Perrone, S; Buonocore, G

    2012-01-01

    Oxidative stress (OS) is involved in several human diseases, including obesity, diabetes, atherosclerosis, carcinogenesis, as well as genetic diseases. We previously found that OS occurs in Down Syndrome as well as in Beckwith-Wiedemann Syndrome (BWS). Here we describe the clinical case of a female patient with Prader Willi Syndrome (PWS), a genomic imprinting disorder, characterized by obesity, atherosclerosis and diabetes mellitus type 2, pathologies in which a continuous and important production of free radicals takes place. We verified the presence of OS by measuring a redox biomarkers profile including total hydroperoxides (TH), non protein-bound iron (NPBI), thiols (SH), advanced oxidation protein products (AOPP) and isoprostanes (IPs). Thus we introduced in therapy an antioxidant agent, namely potassium ascorbate with ribose (PAR), in addition to GH therapy and we monitored the redox biomarkers profile for four years. A progressive decrease in OS biomarkers occurred until their normalization. In the meantime a weight loss was observed together with a steady growth in standards for age and sex. PMID:22960339

  5. Use of Cyclosporine Therapy in Steroid Resistant Nephrotic Syndrome (SRNS): A Review

    PubMed Central

    Shah, Syed Raza; Altaf, Areeba; Arshad, Mohammad Hussham; Mari, Anum; Noorani, Sahir; Saeed, Eraj; Mevawalla, Areesh Amir; Haq, Zaiyn Ul; Faquih, Muhammad Ehsan

    2016-01-01

    A chronic, progressive disorder Steroid Resistant Nephrotic Syndrome (SRNS) accounts for 10-20% of all children with Nephrotic Syndrome. It is a heterogeneous disorder comprised of persistent edema, proteinuria, hypoalbuminemia and hyperlipidemia. Treatment for steroid-resistant nephrotic syndrome (SRNS) is challenging and children who suffer from SRNS require aggressive treatment to achieve remission. Calcineurin inhibitors have been used more in an empirical manner than on the basis of clear rationale. It was in 1984 when cyclosporine was first considered for the treatment of steroid resistant nephrotic syndrome. Cyclosporin is a calcineurin inhibitor that suppresses immune response by downregulating the transcription of various cytokine genes. Till now many studies have been conducted to determine dosages, duration of therapy, side effects and advantages of cyclosporine. Treatment of SRNS remains a difficult challenge in pediatric nephrology. Treatment should be individualized according to the underlying histopathology, and clinical and environmental conditions of the children. There is an urgent need to distinguish as soon as possible those patients who may benefit from prolonged immunosuppressive treatment from those who will not benefit from such treatment and who will just suffer from its major side effects. The emerging evidence that the majority of genetic forms of SRNS should receive symptomatic treatment only, should also be clinically tested and studies baring its significance should be evaluated in the future. PMID:26573045

  6. 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 μmol/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

  7. 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

  8. Effects of Temperature on Chronic Trapezius Myofascial Pain Syndrome during Dry Needling Therapy

    PubMed Central

    2014-01-01

    The purpose of this study was to investigate the effects of temperature on chronic trapezius myofascial pain syndrome during dry needling therapy. Sixty patients were randomized into two groups of dry needling (DN) alone (group A) and DN combined with heat therapy group (group B). Each patient was treated once and the therapeutic effect was assessed by the visual analogue scale (VAS), pressure pain threshold (PPT), and the 36-item short form health survey (SF-36) at seven days, one month, and three months after treatment. Evaluation based on VAS and PPT showed that the pain of patients in groups A and B was significantly (P < 0.05) relieved at seven days, one month, and three months after treatment Compared to before treatment. There was significantly (P < 0.05) less pain in group B than group A at one and three months after treatment. The SF-36 evaluation demonstrated that the physical condition of patients in both groups showed significant (P < 0.05) improvement at one month and three months after treatment than before treatment. Our study suggests that both DN and DN heating therapy were effective in the treatment of trapezius MPS, and that DN heating therapy had better long-term effects than DN therapy. PMID:25383083

  9. 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

  10. 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

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

    PubMed

    Arranz, Leonor; Aldamiz-Echevarria, Luis

    2015-06-01

    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

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. 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

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

    PubMed Central

    Wakefield, Mary Lillias

    2014-01-01

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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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.

  3. [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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  6. 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…

  7. Progesterone - new therapy in mild carpal tunnel syndrome? Study design of a randomized clinical trial for local therapy

    PubMed Central

    2010-01-01

    Background Local corticosteroid injection for carpal tunnel syndrome (CTS) provides greater clinical improvement in symptoms one month after injection compared to placebo but significant symptom relief beyond one month has not been demonstrated and the relapse of symptoms is possible. Neuroprotection and myelin repair actions of the progesterone was demonstrated in vivo and in vitro study. We report the design of a randomized controlled trial for the local injection of cortisone versus progesterone in "mild" idiopathic CTS. Methods Sixty women with age between 18 and 60 years affected by "mild" idiopathic CTS, diagnosed on the basis of clinical and electrodiagnostic tests, will be enrolled in one centre. The clinical, electrophysiological and ultasonographic findings of the patients will be evaluate at baseline, 1, 6 and 12 months after injection. The major outcome of this study is to determine whether locally-injected progesterone may be more beneficial than cortisone in CTS at clinical levels, tested with symptoms severity self-administered Boston Questionnaire and with visual analogue pain scale. Secondary outcome measures are: duration of experimental therapy; improvement of electrodiagnostic and ultrasonographic anomalies at various follow-up; comparison of the beneficial and harmful effects of the cortisone versus progesterone. Conclusion We have designed a randomized controlled study to show the clinical effectiveness of local progesterone in the most frequent human focal peripheral mononeuropathy and to demonstrate the neuroprotective effects of the progesterone at the level of the peripheral nervous system in humans. PMID:20420674

  8. [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

  9. 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

  10. 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. PMID:26730230

  11. Potential Therapy for Rheumatoid Arthritis and Sjögren Syndrome With Human Chorionic Gonadotropin.

    PubMed

    Rao, C V

    2016-05-01

    Autoimmune diseases such as rheumatoid arthritis (RA) and Sjögren syndrome (SS) ameliorate during pregnancy, through dampening (immunotolerance) of the maternal immune system which protects the fetus from rejection. A large number of studies have shown that human chorionic gonadotropin (hCG) contributes to this tolerance. Studies on animal models have reaffirmed that hCG treatment mimics the benefits of pregnancy. Based on the scientific evidence, randomized clinical trials comparing hCG with current therapies and/or placebo are recommended for RA, SS, and for other autoimmune diseases such as, type 1 diabetes and ankylosing spondylitis, which also get better during pregnancy and hCG treatment seems to help. PMID:26239386

  12. 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

  13. 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

  14. Habit Reversal Therapy for Body-Focused Repetitive Behaviors in Williams Syndrome: A Case Study

    PubMed Central

    Klein-Tasman, Bonita P.

    2013-01-01

    Williams syndrome (WS) is genetic neurodevelopmental disorder with a well-characterized cognitive and behavioral phenotype. Research has consistently demonstrated high rates of psychopathology in this population; however, little research has examined the use of empirically-supported psychosocial interventions in those with WS. The current case study reports on the use of Habit Reversal Therapy (HRT) to treat multiple body-focused repetitive behaviors in a child with WS. Although HRT is a well-established cognitive-behavioral intervention for body-focused repetitive behaviors, it has been infrequently used in populations with developmental disabilities. An etiologically-informed approach was used to adapt HRT to fit the known behavioral and cognitive phenotype of WS. Results suggest that HRT may be beneficial for this population. Modified treatment elements are described and future research areas highlighted. PMID:24357918

  15. Refractory atypical hemolytic uremic syndrome with monoclonal gammopathy responsive to bortezomib-based therapy.

    PubMed

    Cheungpasitporn, Wisit; Leung, Nelson; Sethi, Sanjeev; Gertz, Morie A; Fervenza, Fernando C

    2015-06-01

    Atypical hemolytic uremic syndrome (aHUS) is a relatively rare disorder described by the triad of hemolytic anemia, thrombocytopenia, and renal failure. Atypical HUS could be genetic, acquired, or idiopathic (without known genetic changes or environmental triggers). Monoclonal protein has uncommonly been reported as a cause of microangiopathic hemolytic anemia (MAHA). We report a 59-year-old white man who presented with acute kidney injury (AKI) with MAHA and was given a diagnosis of aHUS with monoclonal gammopathy. His kidney function and proteinuria worsened with persistent hemolysis despite eculizumab and later cyclophosphamide and prednisone treatment. He responded well to VRD (bortezomib, lenalidomide, and dexamethasone) regimen. Renal function, proteinuria, and hemolysis all improved, and he was been in remission for more than 15 months. To our knowledge, this is the first report of successful treatment with bortezomib-based regimen for a patient with aHUS and monoclonal protein refractory to eculizumab therapy. PMID:25345382

  16. 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

  17. 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

  18. 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

  19. Randomized clinical trial of surgery versus conservative therapy for carpal tunnel syndrome [ISRCTN84286481

    PubMed Central

    Martin, Brook I; Levenson, Linda M; Hollingworth, William; Kliot, Michel; Heagerty, Patrick J; Turner, Judith A; Jarvik, Jeffrey G

    2005-01-01

    Background Conservative treatment remains the standard of care for treating mild to moderate carpal tunnel syndrome despite a small number of well-controlled studies and limited objective evidence to support current treatment options. There is an increasing interest in the usefulness of wrist magnetic resonance imaging could play in predicting who will benefit for various treatments. Method and design Two hundred patients with mild to moderate symptoms will be recruited over 3 1/2 years from neurological surgery, primary care, electrodiagnostic clinics. We will exclude patients with clinical or electrodiagnostic evidence of denervation or thenar muscle atrophy. We will randomly assign patients to either a well-defined conservative care protocol or surgery. The conservative care treatment will include visits with a hand therapist, exercises, a self-care booklet, work modification/ activity restriction, B6 therapy, ultrasound and possible steroid injections. The surgical care would be left up to the surgeon (endoscopic vs. open) with usual and customary follow-up. All patients will receive a wrist MRI at baseline. Patients will be contacted at 3, 6, 9 and 12 months after randomization to complete the Carpal Tunnel Syndrome Assessment Questionnaire (CTSAQ). In addition, we will compare disability (activity and work days lost) and general well being as measured by the SF-36 version II. We will control for demographics and use psychological measures (SCL-90 somatization and depression scales) as well as EDS and MRI predictors of outcomes. Discussion We have designed a randomized controlled trial which will assess the effectiveness of surgery for patients with mild to moderate carpal tunnel syndrome. An important secondary goal is to study the ability of MRI to predict patient outcomes. PMID:15656907

  20. 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

  1. Clobazam as an adjunctive therapy in treating seizures associated with Lennox-Gastaut syndrome.

    PubMed

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

    2011-01-01

    Lennox-Gastaut 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 GABA(A) receptors, and to increase expression of transporters for both GABA and glutamate. The active metabolite n-desmethylclobazam (norclobazam) also modulates GABA(A) 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. [De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].

    PubMed

    Bene, Judit; Hadzsiev, Kinga; Komlósi, Katalin; Kövesdi, Erzsébet; Mátyás, Petra; Melegh, Béla

    2015-12-01

    Severe myoclonic epilepsy in infancy (Dravet's syndrome) is a very rare form of epilepsy. Mutations of SCN1A gene encoding voltage-gated sodium channel alpha-1 subunit are major causes of the autosomal dominant disorder. Most cases are associated with a de novo point mutation, but some patients have copy number variations. The protein encoded by the SCN1A gene plays a role in the generation and propagation of action potentials. Loss of function caused by the majority of gene mutations leads to hyperexcitability of the neuronal network that finally results in the formation of the epileptic seizures. Molecular genetic test for copy number variations of SCN1A gene is available in the department of the authors since 2013 besides sequencing analysis of the whole gene. This article presents the case of a 7-year-old patient with two years of recorded patient history outside of the author's department. Molecular genetic test, which detected a de novo SCN1A gene deletion in heterozygous form, revealed SCN1A gene associated monogenic epileptic syndrome being in the genetic background of therapy-resistant seizures. PMID:26614543

  3. 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

  4. [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

  5. [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

  6. Transfert d'énergie linéique et radiosensibilité cellulaire

    NASA Astrophysics Data System (ADS)

    Courdi, A.; Pignol, J. P.; Iborra-Brassart, N.; Hérault, J.; Fares, G.; Hachem, A.; Chauvel, P.

    1998-04-01

    The response of human tumour cell lines to in vitro irradiation by high LET particles depends on several factors. For charged particles, there is an increase in radio-sensitivity with LET up to LET values of about 200 KeV/m, then it decreases for higher values. In clinical practice, the increase in the average LET value with depth leads to a continuous increase in relative biological effectiveness (RBE). The probability of particle traversal through the nucleus producing lethal damage is almost 1 for particles with very high LET values such as 7 MeV Ar (LET = 1500 KeV/μm); it is only 0.02 for 400 MeV O ions (LET = 20 KeV/μm). RBE is inversely related with dose, this relation being more marked for cells with small α/beta values after photon irradiation according to the linear-quadratic formula. Particles that are less efficient than photons in terms of average cell death induce heavy individual cell damage, as shown by the yield of multiple micronuclei (MN). With regard to RBE and intrinsic radiosensitivity, recent data using both the clonogenic method and the MN assay indicate that the higher the radioresistance to photon irradiation, the higher the RBE. La réponse des cellules tumorales humaines à l'irradiation in vitro par des particules de TEL élevé dépend de plusieurs facteurs. Pour les particules chargées, la radiosensibilité augmente avec le TEL jusqu'à des valeurs de TEL voisines de 200 KeV/μm, puis diminue pour des valeurs de TEL supérieures. En clinique, l'augmentation du TEL moyen de la particule chargée en profondeur est responsable d'une efficacité biologique relative (EBR) croissante. La probabilité de mortalité de la cellule par une particule traversant le noyau est proche de 1 pour les particules de TEL très élevé comme l'Ar de 7 MeV par nucléon (TEL = 1500 KeV/μm) ; elle n'est que de 0,02 pour les ions d'O de 400 MeV (TEL = 20 KeV/μm). L'EBR est plus élevée pour les petites doses, la relation EBR/dose étant plus marquée dans les cellules ayant un rapport α/beta plus faible après exposition aux photons, selon le modèle linéaire-quadratique. Les particules moins efficaces que les photons en terme de mortalité cellulaire moyenne induisent des dégâts individuels importants, révélés par la production de micronoyaux (MN) multiples. Concernant le lien entre l'EBR et la radio-sensibilité intrinsèque, les données récentes utilisant à la fois la technique des colonies et la méthode des MN, montrent que l'EBR est d'autant plus élevée que les cellules sont radiorésistantes aux photons.

  7. 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

  8. Managing the acute coronary syndrome patient: Evidence based recommendations for anti-platelet therapy.

    PubMed

    Clark, Michael G; Beavers, Craig; Osborne, John

    2015-01-01

    Acute coronary syndrome (ACS) is best managed by a multidisciplinary team in which primary care physicians, physician assistants, nurse practitioners, and pharmacists play a key role. This article summarizes recent updates to American College of Cardiology Foundation/American Heart Association guidelines for the management of unstable angina (UA)/non ST-segment elevation ACS (NSTE-ACS) and ST-segment elevation myocardial infarction (STEMI), focusing on antiplatelet therapy. Dual antiplatelet therapy comprising aspirin plus a P2Y12 inhibitor (clopidogrel, prasugrel, or ticagrelor) is recommended for patients with NSTE-ACS, and those with STEMI both during and after reperfusion. The guidelines provide recommendations regarding the utilization of P2Y12 inhibitors in specific circumstances and are discussed in this review. Health care teams with a key role in post-ACS care need to be familiar with the latest guidelines and support patients with education on risk reduction and the benefits of long-term medication adherence. PMID:25592204

  9. 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.

  10. [Effects of piracetam therapy in a case of Lance-Adams syndrome].

    PubMed

    Hoshino, Ai; Kumada, Satoko; Yokochi, Fusako; Hachiya, Yasuo; Hanafusa, Yukiko; Tomita, Sunao; Okiyama, Ryoich; Kurihara, Eiji

    2009-09-01

    We report a 17-year-old female patient with Lance-Adams syndrome caused by anoxic encephalopathy during a severe attack of bronchial asthma. She had difficulty in writing because of action myoclonus in her arms. She also exhibited freezing gait and was unable to walk without cane. Although her gait disturbance resembled those seen in patients with parkinsonism secondary to anoxic encephalopathy, surface electromyography revealed that it was caused by action myoclonus in her legs. The presence of giant somatosensory evoked potentials and enhanced cortical reflexes in response to the electrical stimulation to her posterior tibial nerves supported our diagnosis. A combined therapy with valproate sodium, clonazepam and piracetam (15 g/day) was not effective. However, her freezing gait remarkably improved and she was able to walk without help, after the treatment with sufficient dose of piracetam (21 g/day). Cortical hyperexcitability as revealed by electrophysiological examination also improved. We concluded that the combined therapy with antiepileptic drugs and piracetam was effective in the treatment for action myoclonus. However, because the effects seemed dose-related, the dosage of piracetam needed to be increased until the optimum effects were obtained. PMID:19764456

  11. 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

  12. 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

  13. 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.

  14. 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, Flávia C; Netto, Bárbara D M; Carvalho-Ferreira, Joana P; Oyama, Lila M; Nascimento, Claudia M O; de Mello, Marco T; Tufik, Sergio; Dâmaso, 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 27·5 to 13·0 %. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. Tuberculosis Immune Reconstitution Inflammatory Syndrome in Children Initiating Antiretroviral Therapy for HIV Infection

    PubMed Central

    Link-Gelles, Ruth; Moultrie, Harry; Sawry, Shobna; Murdoch, David; Van Rie, Annelies

    2014-01-01

    Background People with HIV initiating combination antiretroviral therapy are at risk for tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS). While this syndrome has been well researched in adults, little is known about the incidence, case fatality, underlying immunopathology and treatment approaches in children. Methods Major databases were searched for articles related to TB-IRIS in children. Data were abstracted using standardized forms. Results Thirteen studies were identified: 6 retrospective and 2 prospective cohort studies, 1 cross-sectional study, 3 case reports and 1 case series. In total, 303 cases of TB-IRIS were described, of which 270 were unmasking TB-IRIS, 12 paradoxical TB-IRIS and 21 were not classifiable due to lack of key information. None of the cohort studies had investigation of TB-IRIS as its primary aim. Nine studies were from Africa, 3 from Asia and 1 from Latin America. Age at cART initiation (reported by 12 studies) ranged from 1 month to 16 years. Median time from start of cART to IRIS diagnosis (reported by 8 studies) ranged from 8 days to 16 weeks. Few deaths attributable to TB-IRIS were recorded. Treatment was only discussed in 2 case studies, both of which reported children receiving corticosteroids. No studies evaluated risk factors for, or immunopathogenesis of, pediatric TB-IRIS. Conclusions There is a paucity of information available on TB-IRIS in children. Future research assessing incidence, risk factors, case fatality and optimal treatment or prevention strategies of TB-IRIS is needed. PMID:24736441

  5. 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

  6. 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

  7. 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

  8. Autologous stem cell transplantation in refractory Asherman's syndrome: A novel cell based therapy

    PubMed Central

    Singh, Neeta; Mohanty, Sujata; Seth, Tulika; Shankar, Meenakshi; Bhaskaran, Sruthi; Dharmendra, Sona

    2014-01-01

    BACKGROUND: There is substantial evidence that adult stem cell populations exist in human endometrium, and hence it is suggested that either endogenous endometrial stem/progenitor cells can be activated or bone marrow derived stem cells can be transplanted in the uterine cavity for endometrial regeneration in Asherman's syndrome (AS). AIMS AND OBJECTIVES: The objective was to evaluate the role of sub-endometrial autologous stem cell implantation in women with refractory AS in attaining menstruation and fertility. SETTING: Tertiary care referral center. DESIGN: Prospective case series. MATERIALS AND METHODS: Six cases of refractory AS with failed standard treatment option of hysteroscopic adhesiolysis in the past were included. Mononuclear stem cells (MNCs) were implanted in sub-endometrial zone followed by exogenous oral estrogen therapy. Endometrial thickness (ET) was assessed at 3, 6, and 9 months. RESULTS: Descriptive statistics and statistical analysis of study variables was carried out using STATA version 9.0. The mean MNC count was 103.3 × 106 (±20.45) with mean CD34+ count being 203,642 (±269,274). Mean of ET (mm) at 3 months (4.05 ± 1.40), 6 months (5.46 ± 1.36) and 9 months (5.48 ± 1.14) were significantly (P < 0.05) increased from pretreatment level (1.38 ± 0.39). Five out of six patients resumed menstruation. CONCLUSION: The autologous stem cell implantation leads to endometrial regeneration reflected by restoration of menstruation in five out of six cases. Autologous stem cell implantation is a promising novel cell based therapy for refractory AS. PMID:25191021

  9. Assessing continuous renal replacement therapy as a rescue strategy in cardiorenal syndrome 1

    PubMed Central

    Prins, Kurt W.; Wille, Keith M.; Tallaj, Jose A.; Tolwani, Ashita J.

    2015-01-01

    Background Patients with acute decompensated heart failure (ADHF) and cardiorenal syndrome (CRS) 1 have poor outcomes. Ultrafiltration (UF) is used to mechanically remove salt and water in ADHF patients with diuretic resistance. However, little is known about the outcomes of ADHF patients on inotropes and/or vasopressors who require continuous renal replacement therapy (CRRT) for both UF and solute clearance in severe acute kidney injury. Methods We retrospectively analyzed 37 consecutive critically ill patients who were admitted for ADHF from 2005–13 and were on inotropes and/or vasopressors at the time of CRRT initiation. The primary outcome was in-hospital mortality. Results In-hospital mortality rate was 62%. Median survival was 15.5 days after CRRT initiation, and 10 months following hospital discharge. When comparing renal and cardiovascular variables for survivors and non-survivors at baseline, admission and CRRT initiation, survivors were less likely to need vasopressors. After controlling for multiple predictors, vasopressor use remained associated with time to death (HR 9.9; 95% CI 2.3–43.3; P = 0.002). Patients with isolated right ventricular dysfunction had an in-hospital mortality of 45% compared with 69% in those with left ventricular dysfunction (P = 0.27). Age of >70 years was associated with 100% in-hospital mortality. Conclusions Rescue therapy using CRRT in refractory CRS1 was associated with high in-hospital mortality, especially when vasopressors were used and when patient age exceeded 70 years. Additionally, survivors had a poor long-term prognosis. PMID:25713716

  10. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy

    PubMed Central

    Gill, Harinder; Leung, Anskar Y. H.; Kwong, Yok-Lam

    2016-01-01

    Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal hematopoietic stem cell disorders characterized by cytopenia, ineffective hematopoiesis, and progression to secondary acute myeloid leukemia in high-risk cases. Conventional prognostication relies on clinicopathological parameters supplemented by cytogenetic information. However, recent studies have shown that genetic aberrations also have critical impacts on treatment outcome. Moreover, these genetic alterations may themselves be a target for treatment. The mutation landscape in MDS is shaped by gene aberrations involved in DNA methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, CEBPA, GATA2), tyrosine kinase receptor signaling (JAK2, MPL, FLT3, GNAS, KIT), RAS pathways (KRAS, NRAS, CBL, NF1, PTPN11), DNA repair (ATM, BRCC3, DLRE1C, FANCL), and cohesion complexes (STAG2, CTCF, SMC1A, RAD21). A detailed understanding of the pathogenetic mechanisms leading to transformation is critical for designing single-agent or combinatorial approaches in target therapy of MDS. PMID:27023522

  11. 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

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

    PubMed

    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

    2015-10-01

    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

  13. 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

  14. Electroconvulsive therapy for depression following acute coronary syndromes: a concern for the anesthesiologist.

    PubMed

    Pourafkari, Nosratollah; Pourafkari, Leili; Nader, Nader D

    2016-06-01

    The prevalence of depression in patients with cardiovascular disease is higher than general population and especially following an acute coronary syndrome (ACS), a significant number of patients report a wide spectrum of behavioral and mood changes attributable to clinical depression. Treatment of depression following ACS event is particularly challenging since most of the therapeutic modalities are associated with increasing the systemic sympathetic tone from neurogenic or pharmacologic sources. Increased activity of the adrenergic and catecholamine activity may further deter the myocardial oxygen supply and demand therefore treating depression should be carefully evaluated for its risk benefit ratio. Electroconvulsive therapy (ECT) is recommended for patients with severe depression, in whom behavioral and pharmacologic treatments have failed. Patients who refuse to take medications or present with any psychological emergency such as harming self or others, are also candidates for ECT. ECT is also associated with sudden surges of catecholamines and may cause recurrent myocardial ischemia and fatal dysrhythmias in patients convalescing from an ACS event. Herein, we provide an overview and practical guidelines for management of patients presented for ECT following ACS. PMID:27185716

  15. [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

  16. Comparison of two low dose ACTH therapies for West syndrome: their efficacy and side effect.

    PubMed

    Kondo, Yoko; Okumura, Akihisa; Watanabe, Kazuyoshi; Negoro, Tamiko; Kato, Toru; Kubota, Tetsuo; Hiroko, Kakizawa

    2005-08-01

    In order to clarify the appropriate usage of adrenocorticotropic hormone (ACTH), the efficacy and side effects of two different regimens of low dose ACTH therapy were compared. Thirty-four patients with West syndrome (WS) were treated with ACTH. The dose of synthetic ACTH-Z was 0.015 mg/kg/dose in 18 patients who were treated between 1996 and 1998 (regimen A), and 0.010 mg/kg/dose in 16 patients who were treated between 1999 and 2001 (regimen B). Patients were classified into cryptogenic and symptomatic groups. Efficacy and adverse effects of ACTH were compared between regimens A and B. Similar analyses were performed after stratification into cryptogenic and symptomatic groups. The efficacy of ACTH was not different between regimens A and B. However, among patients with symptomatic WS, the number of ACTH injections and the dose of ACTH until cessation of spasms were significantly smaller in regimen A than in regimen B. There was no significant difference in these variables between the regimens among those with cryptogenic WS. Adverse effects were not different between regimens A and B. 0.010 mg/kg per day of ACTH will be adequate for cryptogenic WS, but 0.015 mg/kg per day of ACTH is recommended for symptomatic WS. PMID:16023546

  17. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy.

    PubMed

    Gill, Harinder; Leung, Anskar Y H; Kwong, Yok-Lam

    2016-01-01

    Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal hematopoietic stem cell disorders characterized by cytopenia, ineffective hematopoiesis, and progression to secondary acute myeloid leukemia in high-risk cases. Conventional prognostication relies on clinicopathological parameters supplemented by cytogenetic information. However, recent studies have shown that genetic aberrations also have critical impacts on treatment outcome. Moreover, these genetic alterations may themselves be a target for treatment. The mutation landscape in MDS is shaped by gene aberrations involved in DNA methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, CEBPA, GATA2), tyrosine kinase receptor signaling (JAK2, MPL, FLT3, GNAS, KIT), RAS pathways (KRAS, NRAS, CBL, NF1, PTPN11), DNA repair (ATM, BRCC3, DLRE1C, FANCL), and cohesion complexes (STAG2, CTCF, SMC1A, RAD21). A detailed understanding of the pathogenetic mechanisms leading to transformation is critical for designing single-agent or combinatorial approaches in target therapy of MDS. PMID:27023522

  18. 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

  19. [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

  20. [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

  1. 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

  2. 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

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

    PubMed Central

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

    2013-01-01

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

  4. 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…

  5. Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes

    PubMed Central

    Ellinwood, N Matthew; Ausseil, Jérôme; Desmaris, Nathalie; Bigou, Stéphanie; Liu, Song; Jens, Jackie K; Snella, Elizabeth M; Mohammed, Eman EA; Thomson, Christopher B; Raoul, Sylvie; Joussemet, Béatrice; Roux, Françoise; Chérel, Yan; Lajat, Yaouen; Piraud, Monique; Benchaouir, Rachid; Hermening, Stephan; Petry, Harald; Froissart, Roseline; Tardieu, Marc; Ciron, Carine; Moullier, Philippe; Parkes, Jennifer; Kline, Karen L; Maire, Irène; Vanier, Marie-Thérèse; Heard, Jean-Michel; Colle, Marie-Anne

    2011-01-01

    Recent trials in patients with neurodegenerative diseases documented the safety of gene therapy based on adeno-associated virus (AAV) vectors deposited into the brain. Inborn errors of the metabolism are the most frequent causes of neurodegeneration in pre-adulthood. In Sanfilippo syndrome, a lysosomal storage disease in which heparan sulfate oligosaccharides accumulate, the onset of clinical manifestation is before 5 years. Studies in the mouse model showed that gene therapy providing the missing enzyme α-N-acetyl-glucosaminidase to brain cells prevents neurodegeneration and improves behavior. We now document safety and efficacy in affected dogs. Animals received eight deposits of a serotype 5 AAV vector, including vector prepared in insect Sf9 cells. As shown previously in dogs with the closely related Hurler syndrome, immunosuppression was necessary to prevent neuroinflammation and elimination of transduced cells. In immunosuppressed dogs, vector was efficiently delivered throughout the brain, induced α-N-acetyl-glucosaminidase production, cleared stored compounds and storage lesions. The suitability of the procedure for clinical application was further assessed in Hurler dogs, providing information on reproducibility, tolerance, appropriate vector type and dosage, and optimal age for treatment in a total number of 25 treated dogs. Results strongly support projects of human trials aimed at assessing this treatment in Sanfilippo syndrome. PMID:21139569

  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. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. [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

  13. [Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase].

    PubMed

    Sardón, O; García Pardos, C; Mintegui, J; Pérez Ruiz, E; Coll, M J; Chabás, A; Olivé, T; Ruiz Benito, A

    2005-07-01

    We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients. PMID:15989873

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

    PubMed Central

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

    2014-01-01

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

  15. Physiological responses to psychological challenge under hypnosis in patients considered to have the hyperventilation syndrome: implications for diagnosis and therapy.

    PubMed Central

    Freeman, L J; Conway, A; Nixon, P G

    1986-01-01

    Thirty patients who were considered to have the hyperventilation syndrome on clinical grounds (history and observation) were referred for testing: 29 patients completed a forced hyperventilation provocation test, and 28 underwent hypnosis during which time a psychological challenge was introduced which was meaningful to each individual patient. In 19/27 of these patients the PetCO2 fell by an average of 18.2 mmHg and persisted spontaneously for more than three minutes. In 10 normal controls studied in a similar fashion there was an average fall of 5 mmHg. The difference in response between responders and controls/non-responders was highly significant (P less than 0.001). A review of the literature is presented for comparison. It is considered that a psychological challenge under hypnosis may have important implications for diagnosis and therapy in some patients considered to have the hyperventilation syndrome. Images Figure 2. Figure 3. Figure 4. Figure 5. PMID:3081708

  16. 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

  17. Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

    PubMed

    Illsinger, S; Lücke, T; Hartmann, H; Mengel, E; Müller-Forell, W; Donnerstag, F; Das, A M

    2009-12-01

    Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long-term outcome in Scheie patients undergoing ERT is scarce. We report a 38-year-old female Scheie patient who has been on ERT for 8 years. While non-neurological symptoms improved, she developed paresthesias in her hands and feet and progressive pain in her legs. Somatosensory evoked potentials were abnormal, suggesting dysfunction of the dorsal funiculus and lemniscus medialis. After 6 years of ERT, a spinal MRI showed dural thickening at the upper cervical spine. These soft-tissue deposits are presumably due to the accumulation of mucopolysaccharides. Intramedullary hyperintensities at the level of C1/2 revealed cervical myelopathy. An MRI before the start of ERT had shown milder spinal lesions. Cystic lesions in the white matter of the centrum semiovale due to dilated Virchow-Robin spaces were essentially unchanged compared with the MRI scan before ERT. Decompression of the spinal cord resulted in clinical improvement. In an adult patient with Scheie syndrome, ERT failed to prevent progression of cervical myelopathy. Clinical significance of cerebral changes is unclear. Whether early HCT or intrathecal ERT could have prevented these lesions remains speculative. PMID:19894140

  18. Continuous positive airway pressure therapy is associated with improvement in overactive bladder symptoms in women with obstructive sleep apnea syndrome

    PubMed Central

    Ipekci, Tumay; Cetintas, Gulgun; Celik, Orcun; Sarac, Sema; Tunckiran, Ahmet; Ilbey, Yusuf Ozlem

    2016-01-01

    Introduction To evaluate the impact of continuous positive airway pressure (CPAP) therapy on overactive bladder (OAB) symptoms in women with obstructive sleep apnea syndrome (OSAS). Material and methods One-hundred and fifty women underwent an overnight polysomnography study between May 2014 and September 2014. Their voiding symptoms were evaluated using the OAB symptom score (OABSS) and International Consultation on Incontinence Questionnaire Short-Form at OSAS diagnosis and approximately 3-months after CPAP therapy. OSAS severity was assessed according to the apnea-hypopnea-index. Results We evaluated 140 women and 111 of them (79.3%) reported symptoms consistent with OAB. There were no statistically significant differences between OSAS severity with a prevalence of OAB (p = 0.92). The prevalence of urinary incontinence (UI) was 35.7% (n = 50) and 39.6% (n = 44) in all patients and patients with OAB, respectively. There were no statistically significant differences between UI with OAB (p = 0.58). Baseline OABSS is comparable between OSAS severity (p = 0.143). After 3-months CPAP therapy, OABSS and ICIQ-SF sum scores were significantly decreased in patients with severe and moderate OSAS (p <0.01), however, change of OABSS sum score was insignificant in patients with mild OSAS (p = 0.44). Conclusions CPAP therapy improves the OAB, OABSS and ICIQ-SF scores in women with severe and moderate OSAS. OSAS-induced OAB may be alleviated following CPAP therapy. PMID:27123331

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

    PubMed Central

    Husted, Steen

    2015-01-01

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

  20. 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

  1. 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

  2. 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

  3. Salvage therapy with high dose Intravenous Immunoglobulins in acquired Von Willebrand Syndrome and unresponsive severe intestinal bleeding

    PubMed Central

    2014-01-01

    A 91-year-old woman affected with acquired Von Willebrand (VW) syndrome and intestinal angiodysplasias presented with severe gastrointestinal bleeding (hemoglobin 5 g/dl). Despite replacement therapy with VW factor/factor VIII concentrate qid, bleeding did not stop (eleven packed red blood cell units were transfused over three days). High circulating levels of anti-VW factor immunoglobulin M were documented immunoenzimatically. Heart ultrasound showed abnormalities of the mitral and aortic valves with severe flow alterations. When intravenous immunoglobulins were added to therapy, prompt clinical and laboratory responses occurred: complete cessation of bleeding, raise in hemoglobin, VW factor antigen, VW ristocetin cofactor and factor VIII levels as well as progressive reduction of the anti-VWF autoantibody levels. PMID:24926417

  4. 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

  5. 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

  6. 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

  7. 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

  8. Approach to treatment of the patient with metabolic syndrome: lifestyle therapy.

    PubMed

    Stone, Neil J; Saxon, David

    2005-08-22

    The National Cholesterol Education Program's Adult Treatment Panel III definition of the metabolic syndrome identifies those at high risk for diabetes mellitus and/or a cardiac event by clustering a number of easily measured clinical findings, including abdominal obesity, elevated plasma levels of triglycerides, low plasma levels of high-density lipoprotein cholesterol, elevated fasting blood glucose, and elevated blood pressure. The presence of > or = 3 of these 5 risk factors justifies a diagnosis of the metabolic syndrome. This article focuses on root causes of the syndrome (atherogenic diet, sedentary lifestyle, and overweight/obesity) and highlights recent studies that demonstrate the effectiveness of therapeutic lifestyle changes in improving or preventing the components of the metabolic syndrome. We offer a practical approach with a focus that embraces not only patients, but also physicians and healthcare professionals as well as the larger healthcare system. PMID:16098838

  9. 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

  10. 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

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

    PubMed Central

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

    2015-01-01

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

  12. 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. Proton beam therapy for a patient with a giant thymic carcinoid tumor and severe superior vena cava syndrome.

    PubMed

    Sugawara, Kaori; Mizumoto, Masashi; Numajiri, Haruko; Ohno, Toshiki; Ohnishi, Kayoko; Ishikawa, Hitoshi; Okumura, Toshiyuki; Sakurai, Hideyuki

    2014-05-13

    Surgical resection is the first choice for treatment of a thymic carcinoid tumor and radiotherapy is often performed as adjuvant therapy. Here, we report a case of an unresectable and chemoresistant thymic carcinoid tumor that was treated successfully using standalone proton beam therapy (PBT). The patient was a 66-year-old woman in whom surgical resection of the tumor was impossible because of cardiac invasion. Therefore, chemotherapy was administered. However, the tumor grew to 15 cm in diameter and she developed severe superior vena cava (SVC) syndrome. She was referred to our hospital and received PBT at a dose of 74 GyE in 37 fractions. PBT was conducted without severe early toxicities. After PBT, the tumor mildly shrunk to 13 cm in diameter and SVC syndrome almost disappeared. Subsequently, the tumor has continued to decrease in size slowly over the last 2 years and late toxicities have not been observed. Our experience with this case suggests that PBT may be effective for an unresectable thymic carcinoid tumor. PMID:25002943

  14. 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

  15. 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

  16. 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

  17. Grapes (Vitis vinifera) as a Potential Candidate for the Therapy of the Metabolic Syndrome.

    PubMed

    Akaberi, Maryam; Hosseinzadeh, Hosein

    2016-04-01

    Metabolic syndrome is associated with several disorders, including hypertension, diabetes, hyperlipidemia as well as cardiovascular diseases and stroke. Plant-derived polyphenols, compounds found in numerous plant species, play an important role as potential treatments for components of metabolic syndrome. Studies have provided evidence for protective effects of various polyphenol-rich foods against metabolic syndrome. Fruits, vegetables, cereals, nuts, and berries are rich in polyphenolic compounds. Grapes (Vitis vinifera), especially grape seeds, stand out as rich sources of polyphenol potent antioxidants and have been reported helpful for inhibiting the risk factors involved in the metabolic syndrome such as hyperlipidemia, hyperglycemia, and hypertension. There are also many studies about gastroprotective, hepatoprotective, and anti-obesity effects of grape polyphenolic compounds especially proanthocyanidins in the literature. The present study investigates the protective effects of grape seeds in metabolic syndrome. The results of this study show that grape polyphenols have significant effects on the level of blood glucose, lipid profile, blood pressure, as well as beneficial activities in liver and heart with various mechanisms. In addition, the pharmacokinetics of grape polyphenols is discussed. More detailed mechanistic investigations and phytochemical studies for finding the exact bioactive component(s) and molecular signaling pathways are suggested. Copyright © 2016 John Wiley & Sons, Ltd. PMID:26800498

  18. 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

  19. 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

  20. Dapsone hypersensitivity syndrome: A rare life threatening complication of dapsone therapy

    PubMed Central

    Vinod, Kolar Vishwanath; Arun, Karyampudi; Dutta, Tarun Kumar

    2013-01-01

    Dapsone can cause several adverse effects, the most serious being dapsone hypersensitivity syndrome (DHS), which is potentially fatal. Here we report a case of severe, life threatening dapsone systemic hypersensitivity syndrome in a 17-year-old male who presented with high grade fever, eosinophilia, lymphadenopathy, skin rash, hepatitis and encephalopathy, which was managed successfully with oral steroids. The case is being reported to emphasize the need for timely diagnosis and prompt treatment of this rare complication for successful outcomes. DHS is also reviewed in brief. PMID:23761718

  1. 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

  2. [Experiences with therapy of pediatric sleep apnea syndrome and obstructive nasopharyngeal respiratory pattern with nasal BIPAP and CPAP therapy].

    PubMed

    Zwacka, G; Scholle, S

    1995-03-01

    Sleep-apnea in childhood shows a frequency similar to adults but it is caused by many other reasons. Therapeutic effects of nasal CPAP and BIPAP can replace surgical ENT-Therapy in large extent mainly in ages at 2-5 years. But also in older children is it possible to treat obstructive sleep apnea and hypoventilation neuromuscular diseases by BIPAP. Examples for treatment of children by BIPAP who are two years old were given. Other demonstrated cases cover children with stridor congenitus, obstructive sleep apnea, hypoventilation, adenoidal breathing disturbances with primary surgical treated tonsillar hyperplasia and one case of thoracal postobstructive malformation with therapeutic BIPAP options. PMID:7617601

  3. 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

  4. Effect of Antiplatelet Therapy on Acute Respiratory Distress Syndrome and Mortality in Critically Ill Patients: A Meta-Analysis

    PubMed Central

    Wang, Lijun; Li, Heng; Gu, Xiaofei; Wang, Zhen; Liu, Su; Chen, Liyong

    2016-01-01

    Background Antiplatelet agents are commonly used for cardiovascular diseases, but their pleiotropic effects in critically ill patients are controversial. We therefore performed a meta-analysis of cohort studies to investigate the effect of antiplatelet therapy in the critically ill. Methods Nine cohort studies, retrieved from PubMed and Embase before November 2015, involving 14,612 critically ill patients and 4765 cases of antiplatelet users, were meta-analysed. The main outcome was hospital or 30-day mortality. Secondary outcome was acute respiratory distress syndrome (ARDS) or acute lung injury (ALI). Random- or fixed-effect models were taken for quantitative synthesis of the data. Results Antiplatelet therapy was associated with decreased mortality (odds ratio (OR) 0.61; 95% confidence interval (CI), 0.52–0.71; I2 = 0%; P <0. 001) and ARDS/ALI (OR 0.64; 95% CI, 0.50–0.82; I2 = 0%; P <0. 001). In every stratum of subgroups, similar findings on mortality reduction were consistently observed in critically ill patients. Conclusions Antiplatelet therapy is associated with reduced mortality and lower incidence of ARDS/ALI in critically ill patients, particularly those with predisposing conditions such as high-risk surgery, trauma, pneumonia, and sepsis. However, it remains unclear whether similar findings can be observed in the unselected and broad population with critical illness. PMID:27182704

  5. 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

  6. 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

  7. Cognitive-Pragmatic Approach III: A Group Therapy for Down's Syndrome Children.

    ERIC Educational Resources Information Center

    Nagasaki, Tsutomu; And Others

    1989-01-01

    The study discusses an intervention program for three young Down's syndrome children who had shown communication problems with other children. A game situation was developed in which the Japanese children interacted among themselves and with adults. Rules were designed to provide a structured context for the game, and the rules were kept within…

  8. 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

  9. 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

  10. Managing acute withdrawal syndrome on patients with heroin and morphine addiction by acupuncture therapy.

    PubMed

    Lu, Po-kuang; Lu, Gabriel P; Lu, Dominic P; Lu, D P; Lu, Winston I

    2004-01-01

    Though there are articles and case reports about using acupuncture to detoxify and to break the narcotic addiction, few articles describe in the West about using acupuncture therapy to treat the emergence of acute withdrawal symptom due to heroin, opium, or morphine. Most often the method of treatment are using the methadone or benzodiazepine and phenoziazine drugs this article describes many years of clinical experience with non-drug approach to treat the acute withdrawal symptoms with acupuncture therapy. Unlike the drug approach, which usually has side effects, there is no adverse effect with acupuncture therapy. PMID:15807100

  11. [Apparative aversive therapy in combination with verbal suggestions in special obsessional syndromes (initial investigation)].

    PubMed

    Dummer, W

    1977-12-01

    The author restricts the use of aversion therapy by means of deliberate production of pain to obsessional, especially therapy-resistant disturbances of a permanent nature, with consideration being, of course, given to ethical factors. Experiences worthy of generalization are derived from methodically varied courses of treatment, bringing out suggestive moments subliminally involved in any therapeutical situation and also specifically used by the therapist. In addition, the author emphasizes the need for simultaneously developing, besides aversion therapy, positive attitudes and behavior patterns. PMID:609650

  12. Tropical Splenomegaly Syndrome: Long-term Proguanil Therapy Correlated with Spleen Size, Serum IgM, and Lymphocyte Transformation

    PubMed Central

    Sagoe, Aba-Segua

    1970-01-01

    Forty-three patients with an initial diagnosis of tropical splenomegaly syndrome were placed on long-term proguanil therapy. All patients who failed to respond to proguanil and who were adequately followed up developed identifiable disease, usually malignant lymphoma or chronic lymphatic leukaemia. In patients who responded to proguanil IgM values were always very high and phytohaemagglutinin (P.H.A.)-lymphocyte-transformation scores were always normal before treatment was started. In patients who failed to respond IgM values were within the normal range or below, while P.H.A.-lymphocyte-transformation scores were abnormally low. During proguanil treatment IgM values fell gradually, closely paralleling the decrease in spleen size. PMID:5451589

  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. Anti-Müllerian hormone in women with polycystic ovary syndrome before and after therapy with metformin.

    PubMed

    Tomova, A; Deepinder, F; Robeva, R; Kirilov, G; Mechandjiev, Z; Kumanov, P

    2011-09-01

    Anti-Müllerian hormone (AMH) is largely expressed throughout folliculogenesis and its levels may represent both the quantity and quality of ovarian follicle pool. We conducted this study to evaluate the levels of AMH in women with polycystic ovarian syndrome (PCOS) before and after metformin therapy. 22 consecutive patients with PCOS and 20 healthy age-matched controls were investigated. The patients received 2 550 mg/day metformin for 6 months. Serum levels of AMH, sex hormones, insulin, blood glucose, and lipids were measured before and after metformin therapy. The basal AMH levels in patients with PCOS (42.34±6.42 pmol/l) were significantly elevated in comparison with the controls (21.58±3.41 pmol/l), p=0.008. 17 patients completed 6 months therapy with metformin. Of them, 13 responded clinically by restoration of regular menstrual cycles. The AMH levels of these 13 women decreased from 45.67±9.30 pmol/l to 38.25±6.89 pmol/l (16.27%). In the other 4 patients who did not show satisfactory clinical response to metformin, AMH levels increased from 31.30±16.52 to 80.77±12.73 (p=0.021). The patients who responded to metformin were significantly overweight, had higher BMI, waist circumference, body fat, and blood pressure as compared to nonresponders. AMH levels are significantly elevated in women with PCOS and they may serve as a marker for evaluation of treatment efficacy with metformin. Furthermore, obese PCOS patients are more likely to respond to metformin therapy with maximal doses as compared to the ones with low body mass index. PMID:21932178

  15. Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese

    PubMed Central

    Wang, Cheng-Zhi; Guo, Ling-Ling; Han, Bai-Yu; Wang, An-Ping; Liu, Hong-Yan; Su, Xing; Guo, Qing-Hua; Mu, Yi-Ming

    2016-01-01

    Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from −1.99 ± 1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to −1.47 ± 1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain. PMID:27190512

  16. 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

  17. 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.

  18. A pilot study of the Spanish Ketogenic Mediterranean Diet: an effective therapy for the metabolic syndrome.

    PubMed

    Pérez-Guisado, Joaquín; Muñoz-Serrano, Andrés

    2011-01-01

    The "Spanish Ketogenic Mediterranean Diet" (SKMD) has been shown to promote potential therapeutic properties for the metabolic syndrome. The purpose of this study was to evaluate the potential therapeutic properties under free-living conditions of the SKMD in patients with metabolic syndrome (following the International Diabetes Federation consensus guidelines) over a 12-week period. A prospective study was carried out in 22 obese subjects with metabolic syndrome (12 men and 10 women) with the inclusion criteria whose body mass index of 36.58 ± 0.54 kg/m² and age was 41.18 ± 2.28 years. Statistical differences between the parameters studied before and after the administration of the SKMD (week 0 and 12, respectively) were analyzed by paired Student's t test. There was an extremely significant (P < .001) improvement in low-density lipoprotein cholesterol (from 126.25 mg/dL to 103.87 mg/dL) and all the parameters studied associated with metabolic syndrome: body weight (from 106.41 kg to 91.95 kg), body mass index (from 36.58 kg/m² to 31.69 kg/m²), waist circumference (from 111.97 cm to 94.70 cm), fasting plasma glucose (from 118.81 mg/dL to 91.86 mg/dL), triacylglycerols (from 224.86 mg/dL to 109.59 mg/dL), high-density lipoprotein cholesterol (from 44.44 to 57.95 mg/dL), systolic blood pressure (from 141.59 mm Hg to 123.64 mm Hg), and diastolic blood pressure (from 89.09 mm Hg to 76.36 mm Hg). The most affected parameter was the triacylglycerols (51.26% reduction). After the diet all the subjects were free of metabolic syndrome according to the International Diabetes Federation definition, and 100% of them had normal triacylglycerols and high-density lipoprotein cholesterol levels, in spite of the fact that 77.27% of them still had a body mass index of > 30 kg/m². We conclude that the SKMD could be an effective and safe way to cure patients suffering from metabolic syndrome. Future research should include a larger sample size, a longer-term use, and a comparison with other ketogenic diets. PMID:21612461

  19. 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

  20. 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

  1. Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.

    PubMed

    Sohn, Young Bae; Cho, Sung Yoon; Lee, Jieun; Kwun, Yonghee; Huh, Rimm; Jin, Dong-Kyu

    2015-02-01

    Idursulfase beta (Hunterase®) has been used for enzyme replacement therapy (ERT) of patients with mucopolysaccharidosis II (MPS II, Hunter syndrome) aged 6 years or older since 2012 in Korea. The objective of this study was to evaluate the safety and efficacy of ERT with idursulfase beta in Hunter syndrome children younger than 6 years. This study was a 52-week, single center, single arm, open-label clinical trial (NCT01645189). Idursulfase beta (0.5mg/kg/week) was administered intravenously for 52 weeks. The primary endpoint was safety assessed by adverse events (AEs). Secondary endpoints included vital signs, physical examination, ECG, laboratory tests, anti-idursulfase antibodies, and efficacy represented by changes in urinary glycosaminoglycan (GAG) at week 53 from baseline. In addition, growth indices and developmental milestones (Denver II test) were evaluated as exploratory variables. All six patients experienced at least one AE. A total of 109 AEs were reported. One patient experienced a serious AE (hospitalization due to gastroenteritis) that was considered not to be treatment related. One patient (16.7%) experienced infusion-related adverse drug reactions (ADRs), developing urticaria six times and a cough five times. There were no serious ADRs and no clinically significant changes in vital signs, physical exam, laboratory parameters, or ECG. Of the six patients, four (66.7%) showed anti-idursulfase antibodies and neutralizing antibodies on at least one occasion during the study. At week 53, urinary GAG was significantly reduced by -35.1±30.6mgGAG/g creatine from baseline (P=0.038). This study indicates that the safety and efficacy of idursulfase beta are similar to those reported in Hunter syndrome patients aged 6 years or older. PMID:25219292

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  4. 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.

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

    PubMed

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

    2015-11-01

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

  6. Testosterone deficiency syndrome: benefits, risks, and realities associated with testosterone replacement therapy.

    PubMed

    Hassan, Jacob; Barkin, Jack

    2016-02-01

    Testosterone deficiency syndrome, which has sometimes been termed age-related or late-onset hypogonadism, is a syndrome characterized by both clinical manifestations as well as a biochemical deficiency of testosterone. This condition is associated with considerable morbidity and mortality, accounting for billions of dollars in health care costs. There is some evidence that suggests that restoring testosterone levels in these individuals may help to manage or delay progression of the associated morbidities. Furthermore, despite controversies in the literature and media, testosterone replacement has proven to be quite safe in most men with minimal if any adverse effects when dosing to achieve the eugonadal range. It is nevertheless very important for clinicians to be aware of the possible risks and contraindications of treatment to ensure proper patient selection and appropriate monitoring. PMID:26924592

  7. Yang/Qi invigoration: an herbal therapy for chronic fatigue syndrome with yang deficiency?

    PubMed

    Leong, Pou Kuan; 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

  8. Down Syndrome

    MedlinePLUS

    ... occupational therapy (to help with issues such as language skills, hand-eye coordination and social skills) may be helpful for your child. As with any child, children who have Down syndrome need regular medical care. Because children with Down ...

  9. Dravet Syndrome

    MedlinePLUS

    ... the development of effective drug therapies. NIH Patient Recruitment for Dravet Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Epilepsy Foundation 8301 Professional Place East, ...

  10. Tourette Syndrome.

    ERIC Educational Resources Information Center

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  11. Urinary tract infections and the urethral syndrome in adult women: pathogenesis, diagnosis, and therapy.

    PubMed

    Latham, R H

    1985-02-01

    Urinary infections in adult women are extremely common. Yet, dysuria, often a symptom of these infections, can be caused by a number of genitourinary pathogens. Symptomatic urinary infections caused primarily by Escherichia coli or Staphylococcus saprophyticus are best confirmed by demonstrating the presence of 10(2) or more organisms per ml of midstream urine in quantitative cultures. Other causes of dysuria such as vaginitis and urethritis due to venereal disease should be suspected in patients with additional signs and symptoms characteristic of these infections and in young, sexually active females. Effective treatment of urinary infections is achieved with a number of antibiotics; the length of therapy is determined by the location of infection in the urinary tract. Although equal in efficacy to conventional therapy for uncomplicated lower tract infections, single-dose therapy of dysuric women should be limited to patients for whom adequate follow-up can be insured. PMID:3902456

  12. [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

  13. 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

  14. 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

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

    PubMed Central

    Connell, MT; Owen, CM; Segars, JH

    2014-01-01

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

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

    PubMed

    González García, Paloma; Manzano Hernández, M Pilar; Muñoz Tomás, M Teresa; Martín Hernández, Carlos; Forcano García, 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. [Effectiveness of pinaverium bromide therapy on colonic motility disorders in irritable bowel syndrome].

    PubMed

    Wittmann, T; Fehér, A; Rosztóczy, A; Jánosi, J

    1999-02-28

    The special patterns of the slow wave activity in irrittable bowel syndrome by means of surface electromyography were examined and the effect of pinaverium bromide on the symptoms and on the colonic motility in this disease was estimated. Twenty two patients with irritable bowel syndrome and 7 healthy controls were selected to the study. The clinical symptoms were abdominal pain and bloating in all patients, constipation in 9, and diarrhoea in 6 cases. Surface electromyography was carried out before and on the 14th day of the treatment with pinaverium bromide (50 mg t. i. d). The colonic motility was analysed in a 2 hour fasting and a 2 hour postprandial period following a standard (800 kCal) meal. The slow wave frequency of 0.01-0.04 Hz were selected and analysed. The mean frequency of activity peaks (n/10 min) and power-index (area under curve, microV 10 min) were measured. For statistical analysis Student's t-test was applied. Electromyogram of patients with irritable bowel syndrome showed a significant increase of the measured colonic motility parameters both in fasting and postprandial states. Fourteen days of pinaverium bromide treatment was able to significantly reduce the intensity of the colonic motor activity. Administration of pinaverium bromide completely released in 6 and significantly improved the abdominal pain in other 12 patients, while the bloating disappeared in 12 and was significantly improved in 5 from 22 patients. Pinaverium bromide was able to normalise the stool frequency: the weekly number of stools was decreased from 16 to 7 in the patients complaining diarrhoea ant it was increased from 2 to 6 in the patients with constipation. PMID:10204402

  18. Genetics and Genomics of Sjogren's Syndrome: Research provides Clues to Pathogenesis and Novel Therapies

    PubMed Central

    Segal, Barbara M.; Nazmul-Hossain, Abu N. M.; Patel, Ketan; Hughes, Pamela; Moser, Kathy L.; Rhodus, Nelson L.

    2011-01-01

    Purpose While the key inciting events that drive the progression from autoantibodies to clinical disease remain to be clarified, new light has been shed on the factors contributing to disease susceptibility and the role of genetic factors in determining Sjogren's syndrome (SS) disease phenotypes. The purpose of this review is to provide an update on the role of genetic markers in the susceptibility to and pathogenesis of Sjogren's syndrome. This paper also discusses how genomic and proteomic technology can help in the design of specific therapeutics. Key Findings Recent evidence suggests that inflammatory genes associated with interferon pathways, and specific regulatory genes that control the maturation and proliferation of B cells, contribute to the pathogenesis of Sjogren's syndrome. Both gene expression profiling technology and gene association studies have been used to identify these key biologic pathways. Molecularly defined subsets of pSS patients are also being revealed by these studies. Previously identified gene loci which predispose to multiple autoimmune disorders have been confirmed supporting the paradigm of “general” autoimmune disease genes. Association of SS with many additional susceptibility loci are likely to be established through ongoing genome-wide association scans (GWAS). Clues from genetic studies suggest that targeting B cells will prove to be an effective way of reducing the systemic manifestations of pSS and are supported by early clinical trials. Summary Genome-wide technologies are likely to identify new genes and molecular pathways in the pathogenesis of SS that will be useful not only to identify patients at risk for SS, but also to identify subsets of patients at risk for variable levels of disease severity. In the future, these studies could identify novel biomarkers that will lead to significant advances in management by providing the means to tailor therapeutic strategies to individual patients. PMID:21497524

  19. Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy.

    PubMed

    Sag, Aslihan Taskiran; Saka, Esen; Ozgur, Tuba Turul; Sanal, Ozden; Ayvaz, Deniz Cagdas; Elibol, Bulent; Kurne, Asli Tuncer

    2014-09-01

    A progressive encephalopathy of unknown etiology has been described in patients with primary immunodeficiency disorders. In this report, we characterize the clinical features of this progressive neurodegenerative dementing disorder in a young man with Bruton agammaglobulinemia, through neuropsychological tests and a video sequence. The clinical course of the encephalopathy seems rather uniform: Cognition, especially frontal lobe function, is affected in the early stages, and some patients develop movement disorders. The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained. PMID:25237746

  20. 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

  1. Surfactant replacement therapy in acute respiratory distress syndrome from viral pneumonia.

    PubMed

    Putz, G; Hörmann, C; Koller, W; Schön, G

    1996-06-01

    A modified natural surfactant was administered to a patient with life-threatening adult respiratory distress syndrome caused by viral pneumonia. Subsequently, there was a marked improvement in gas exchange. In order to assess the mechanism for improved oxygenation, computed tomography of the lungs was done. Quantitative analysis of the scans taken before and after surfactant administration indicates that improvement in gas exchange was largely due to the expansion of underinflated and collapsed lung areas. Although this is a single case report, it provides insight into the possible beneficial effect of instilled surfactant in severe respiratory distress from viral pneumonia. PMID:8814477

  2. 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

  3. Adult Nephrotic Syndrome after Hematopoietic Stem Cell Transplantation: Renal Pathology is the Best Predictor of Response to Therapy.

    PubMed

    Beyar-Katz, Ofrat; Davila, Etty Kruzel; Zuckerman, Tsila; Fineman, Riva; Haddad, Nuhad; Okasha, Doaa; Henig, Israel; Leiba, Ronit; Rowe, Jacob M; Ofran, Yishai

    2016-06-01

    Nephrotic syndrome (NS) after allogeneic hematopoietic stem cell transplantation (HSCT) is a rare phenomenon usually associated with graft-versus-host disease (GVHD). This systematic review of post-HSCT NS cases reported in the literature aimed to identify risk factors and unique features of the disease in this clinical setting. One hundred sixteen cases of post-HSCT NS published in the English literature between 1988 and 2015 were revealed and analyzed. The median onset of NS was 20.5 months (range, 3 to 174) post-HSCT. NS development was associated with acute or chronic GVHD in 87.2% of cases. Membranous nephropathy (MGN) was the most frequent pathology (65.5%), followed by minimal change disease (MCD) (19%). Complete remission of the NS was achieved in 63.5% of patients (59.1% of MGN cases and 81.3% of MCD cases; P = .15). Patients presenting with MCD recovered at a median of 1.75 months (range, 1 to 12) and with MGN a median of 7 months (range, 1 to 53) (P = .001). NS was treated with corticosteroids alone in 16.8% of patients and with a combination of corticosteroids and other immunosuppressive agents in 73.5% of patients. Univariate analysis failed to identify a single predictive factor of response to therapy. In conclusion, post-HSCT NS usually develops concomitant to GVHD and is associated with high rates of response to therapy. Although most patients were treated with a combination of immunosuppressive drugs, single-agent therapy with steroids may be sufficient in some cases. PMID:26740372

  4. 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

  5. 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

  6. Cabergoline plus metformin therapy effects on menstrual irregularity and androgen system in polycystic ovary syndrome women with hyperprolactinemia

    PubMed Central

    Ghaneei, Azam; Jowkar, Akram; Hasani Ghavam, Mohammad Reza; Ghaneei, Mohammad Ebrahim

    2015-01-01

    Background: 30% of patients with polycystic ovary syndrome (PCOS) show mild, transient hyperprolactinemia. It is suggested that a reduction of the dopamine inhibitory effect might raise both prolactin and luteinizing hormone. Objective: To investigate the adjuvant cabergoline therapy effects on menstrual irregularity and androgen system in PCOS women with hyperprolactinemia. Materials and Methods: This randomized clinical trial was done on 110 polycystic ovary syndrome women with increased serum prolactin concentration [1.5 fold more than normal level (>37.5 ng/ml)]. Participants were divided into two groups: Case group (n=55) treated with metformin 1gr/day and cabergoline 0.5 mg/week for 4 months and control group (n=55) treated with metformin 1g/day and placebo weekly. Testosterone, prolactin, and dehydroepiandrosterone sulfate level were measured before and four months after intervention in two groups. Also, situation of menstrual cycles asked and recorded before and after intervention. Results: We found decrease in the mean of dehydroepiandrosterone sulfate, weight and total testosterone level in the two groups after intervention but their changes were not significant. Patients in case group showed a significant decrease in serum prolactin level before and after intervention (p<0.001), but no difference was found in control group. All patients in both studied groups had irregular menstrual cycles, which regulate after intervention and the difference was significant (p=0.02). Conclusion: The results showed that cabergoline can be used as a safe administration in PCOS patients with hyperprolactinemia to improve the menstrual cycles. Considering that the administration of cabergoline plus metformin may reduce the required duration and dose of metformin, patient acceptability of this approach is higher. PMID:25999998

  7. 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

  8. Effect of radial shock wave therapy for carpal tunnel syndrome: A prospective randomized, double-blind, placebo-controlled trial.

    PubMed

    Wu, Yung-Tsan; Ke, Ming-Jen; Chou, Yu-Ching; Chang, Chih-Ya; Lin, Ching-Yueh; Li, Tsung-Ying; Shih, Feng-Mei; Chen, Liang-Cheng

    2016-06-01

    Three recent studies demonstrated the positive effect of extracorporeal shock wave therapy (ESWT) for treating carpal tunnel syndrome (CTS). However, none have entirely proved the effects of ESWT on CTS because all studies had a small sample size and lacked a placebo-controlled design. Moreover, radial ESWT (rESWT) has not been used to treat CTS. We conducted a prospective randomized, controlled, double-blinded study to assess the effect of rESWT for treating CTS. Thirty-four enrolled patients (40 wrists) were randomized into intervention and control groups (20 wrists in each). Participants in the intervention group underwent three sessions of rESWT with nightly splinting, whereas those in the control group underwent sham rESWT with nightly splinting. The primary outcome was visual analog scale (VAS), whereas the secondary outcomes included the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ), cross-sectional area (CSA) of the median nerve, sensory nerve conduction velocity of the median nerve, and finger pinch strength. Evaluations were performed before treatment and at 1, 4, 8, and 12 weeks after the third rESWT session. A significantly greater improvement in the VAS, BCTQ scores, and CSA of the median nerve was noted in the intervention group throughout the study as compared to the control group (except for BCTQ severity at week 12 and CSA at weeks 1 and 4) (p < 0.05). This is the first study to assess rESWT in a randomized placebo-controlled trial and demonstrate that rESWT is a safe and effective method for relieving pain and disability in patients with CTS. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:977-984, 2016. PMID:26610183

  9. 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

  10. Guillain Barre syndrome in an HIV-1-infected patient after the beginning of combined antiretroviral therapy: an immune reconstitution inflammatory syndrome?

    PubMed

    Fantauzzi, Alessandra; Digiulio, Maria Anna; Cavallari, Eugenio Nelson; d'Ettorre, Gabriella; Vullo, Vincenzo; Mezzaroma, Ivano

    2014-01-01

    HIV-1-associated Guillan-Barre syndrome (hGBS) is an ascendant progressive polyradiculoneuropathy described throughout the course of the viral disease, mainly associated with the acute retroviral syndrome. HGBS is occasionally described in severely immunocompromised subjects in the context of the immune reconstitution inflammatory syndrome. The case described occurred soon after the start of a combined antiretroviral treatment in an HIV-1 infected patient with ulcerative colitis in the absence of severe immunosuppression. This manifestation may be interpreted as an uncommon appearance of an immune reconstitution syndrome in the presence of a predisposing autoimmune pathology. PMID:24531178

  11. The impact of age on the diagnosis and therapy of myelodysplastic syndromes: results from a retrospective multicenter analysis in Germany.

    PubMed

    Gattermann, Norbert; Kündgen, Andrea; Kellermann, Lenka; Zeffel, Matti; Paessens, Bernadette; Germing, Ulrich

    2013-12-01

    Myelodysplastic syndromes (MDS) is a disease of predominantly elderly patients with a median age of >70 yrs. However, data on the management of these patients outside of clinical trials are scarce. To assess patterns of MDS management in routine patient care with regard to the impact of age, we conducted a multicenter, representative survey of MDS health services in Germany. Data of 269 patients treated at 57 institutions were collected from preplanned chart reviews and were analyzed retrospectively. At diagnosis, median age was 70 yrs, 50% of patients had a Karnofsky index (KI) of 90%, and 12% had a comorbidity index ≥ 3 according to Sorror et al. (J Clin Oncol, 25, 2007, 4246). Cytogenetic analysis and International Prognostic Scoring System (IPSS) risk assessment were performed significantly less frequently in patients >75 yrs than in patients ≤ 75 yrs (P < 0.001 and P = 0.019). In bivariate analysis, potential predictors for performing IPSS risk assessment were age ≤ 75 yrs (y/n, P = 0.019), diagnosis at a university hospital (y/n, P = 0.001), WHO subtypes RCUD (y/n, P = 0.028), RARS (y/n, P = 0.002), or RAEB II (y/n, P = 0.037). Patients ≤ 75 yrs were more likely to receive active therapies (i.e., chemotherapy, immunomodulatory therapy, or epigenetic therapy) than patients >75 yrs (51% vs. 37%, P = 0.007). In bivariate analysis age ≤ 75 yrs (y/n, P = 0.007) was a significant predictor for active treatment with no correlation with the other predictors [IPSS risk score int-2 or high (y/n, P = 0.005), WHO subtypes RCUD (y/n, P < 0.001), RCMD (y/n, P = 0.003), RAEB II (y/n, P < 0.001), or CMML I (y/n, P = 0.020)]. This survey confirms the impact of age on the thoroughness of MDS diagnosis and the decision for active treatment. As cytogenetic analysis and risk assessment are essential for the choice of appropriate therapy, elderly patients in particular may not be receiving adequate treatment. PMID:24102637

  12. Omega-3 Essential Fatty Acids Therapy for Dry Eye Syndrome: A Meta-Analysis of Randomized Controlled Studies

    PubMed Central

    Liu, Aihua; Ji, Jian

    2014-01-01

    Background Dry eye is a common, complex condition that can reduce ocular comfort and visual performance. The impact on quality of life has been rated as similar to the effect of moderate angina and, in more severe cases, dialysis and severe angina. This study aimed to use meta-analysis to compare omega-3 fatty acid and placebo fatty acid in the management of dry eye syndrome. Material/Methods Comparative studies published until 1 June 2014 were searched through a comprehensive search of the Medline, Embase, Web of Science, and the Cochrane Library electronic databases. A systematic review and cumulative analysis of comparative studies reporting the effect of omega-3 fatty acid on dry eye syndrome was conducted. All analyses were performed using the Review Manager (RevMan) v.5 software (Nordic Cochrane Centre, Copenhagen, Denmark). Results The trials involved a total of 790 participants in 7 independent studies. All the studies are published between 2007 and 2013. Meta-analysis of the 5 studies that reported data in mean SD values revealed that the tear break-up time (TBUT) was significantly greater by 1.58 s (WMD=1.58, 95% CI=0.60 to 2.55; P=0.007). Combination of all the Schirmer’s test data showed that omega-3 fatty acid supplementation could significantly improve the Schirmer’s test (WMD=0.74, 95% CI=0.29 to 1.19; P=0.001). However, the combination of all the OSDI test data showed that omega-3 fatty acid supplementation did not significantly improve the OSDI test results (WMD=−4.54, 95% CI=−9.85 to 0.78; P=0.09). Conclusions Based on the data included in our meta-analysis, omega-3 fatty acid was associated with better TBUT and Schirmer’s. No significant differences were detected in OSDI test results. Consequently, our findings suggest that omega-3 fatty acid offers is an effective therapy for dry eye syndrome. PMID:25193932

  13. 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

  14. 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)

  15. 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

  16. 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

  17. [Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report].

    PubMed

    Dupont, C; El Hachem, C; Harchaoui, S; Ribault, V; Amiour, M; Guillot, M; Maire, I; Froissart, R; Guffon-Fouilhoux, N

    2008-01-01

    Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to alpha-L-iduronidase deficiency. Its severe prognosis has been significantly improved by enzyme replacement therapy using recombinant human alpha-L-iduronidase (laronidase). We report the case of a boy who was diagnosed at 19 months of age with Hurler's disease, the most severe form of MPS I, and received thereafter a treatment by laronidase, resulting in clinical and biological improvement. The aim of this case report is to draw physicians' attention on the presenting signs of Hurler's disease, in order to enable an earlier diagnosis, increasing the treatment's benefits. PMID:18162380

  18. 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

  19. The effect of vitamin D replacement therapy on insulin resistance and androgen levels in women with polycystic ovary syndrome.

    PubMed

    Selimoglu, H; Duran, C; Kiyici, S; Ersoy, C; Guclu, M; Ozkaya, G; Tuncel, E; Erturk, E; Imamoglu, S

    2010-04-01

    Insulin resistance (IR) is one of the common features of the polycystic ovary syndrome (PCOS), and recent studies indicate the possible role of vitamin D in the pathogenesis of IR and glucose metabolism. Aim of this study was aimed to determine the effect of vitamin D replacement therapy on glucose metabolism, insulin, and androgen levels in obese, insulin-resistant women with PCOS. Eleven women with PCOS were included in the study. Mean age of the patients was 23.6+/-5.7 yr, body mass index 33.9+/-5.1 kg/m(2). Six patients (54.5%) had acantosis nigricans and 10 (90.9%) oligoamenorrhea. The mean Ferriman Gallwey score was 14.1+/-4.6. Only 2 women were within the normal limits of vitamin D levels as >20 ng/ml. Three weeks after the administration of the single dose of 300,000 units of vitamin D3 orally, 25-hydroxyvitamin D3 significantly increased from 16.9+/-16 ng/ml to 37.1+/-14.6 ng/ml (p: 0.027) and only 2 women were detected to have vitamin D3 levels <20 ng/ml. Although glucose and insulin levels were decreased non-significantly, homeostasis model assessment (HOMA)-IR significantly decreased from 4.41+/-1.38 to 3.67+/-1.48 (p: 0.043). No significant alterations were witnessed at the levels of DHEAS, total and free testosterone, androstenedione. No correlation was found between vitamin D with HOMA and other hormonal parameters. In conclusion, women with PCOS have mostly insufficient vitamin D levels, and vitamin D replacement therapy may have a beneficial effect on IR in obese women with PCOS. PMID:19820295

  20. Resolution of C1q deposition but not of the clinical nephrotic syndrome after immunomodulating therapy in focal sclerosis

    PubMed Central

    Tibor Fülöp, Tibor; Csongrádi, Éva; Lerant, Anna A.; Lewin, Matthew; Lewin, Jack R.

    2015-01-01

    Background: The natural evolution of C1q nephropathy (C1qNP) during immunosuppressive treatment is relatively little studied or understood. Case Presentation: A 30 year-old Caucasian female was referred to us for further management of biopsy-proven C1qNP and severe nephrotic syndrome. Serologic work-up remained negative, including complement C3 and C4 levels and repeated testing for antinuclear antibodies. A renal biopsy revealed minimal change nephropathy vs. focal sclerosis on light microscopy and C1qNP on immunopathology. She has failed trials of high-dose oral prednisone, mycophenolate mofetil 1,500 mg twice a day and a subsequent regimen of monthly IV cyclophosphamide 750 mg × 9 cycles. She also received the maximum tolerated angiotensin-converting enzyme inhibitor and spironolactone therapy. Random urine protein-to-creatinine (UPC) ratio predicted proteinuria in the range between 5-35 gm/day, while serum creatinine rose progressively from 1.0 mg/dL to 1.4 mg/dL (to convert to μmol/L, multiply by 88.4). A decision was made to repeat renal biopsy to reassess the underlying histology. The biopsy revealed focal sclerosis but no C1q deposition. Conclusions: Our case illustrates at least two points: first, an established pathologic diagnosis does not obviate the need for repeated renal biopsy later on, should diagnostic uncertainty persist. Second, histological diagnoses may evolve over time, especially in a patient receiving active and powerful immune-modulating treatment. In our case, the clinical nephrosis did not change with immunosuppressive therapy while C1q deposition ceased, making this latter entity likely the immunologically mediated process. PMID:25964890

  1. Association of Helicobacter pylori infection with the metabolic syndrome among HIV-infected black Africans receiving highly active antiretroviral therapy

    PubMed Central

    Longo-Mbenza, Benjamin; Apalata, Teke; Longokolo, Murielle; Mbula Mambimbi, Marcel; Etienne, Mokondjimobe; Buassa-bu-Tsumbu, Baudouin; Gombet, Thierry; Ellenga, Bertrain; Milongo Dipa, Guy; Lukoki Luila, Evelyne; Nge Okwe, Augustin

    2015-01-01

    Summary Introduction The metabolic syndrome (MetS) is common in human immune deficiency virus (HIV)-infected individuals receiving highly active antiretroviral therapy (HAART). Immune deficiencies caused by HIV give rise to numerous opportunistic gastrointestinal pathogens such as Helicobacter pylori, the commonest cause of chronic gastritis. The study sought to determine the relationship between H pylori infection and the MetS among HIV-infected clinic attendees. Methods This cross-sectional study was carried out in a specialised heart clinic in Kinshasa, DR Congo. Between January 2004 and December 2008, 116 HIV-infected patients (61 with MetS and 55 without MetS) who underwent upper gastrointestinal endoscopy for dyspeptic symptoms were included in the study following an informed consent. Univariate associations were determined by odds ratios (OR), while multivariate logistic regression analysis was used to identify factors associated with the MetS. Results H pylori infection (OR = 13.5, 95% CI: 10.3–17.6; p < 0.0001) and peripheral obesity (median hip circumference ≥ 97 cm) (OR = 4.7, 95% CI: 1.2–18.8; p = 0.029) were identified as MetS-related factors in HIV-infected patients. Higher rates of the MetS were associated with increased incidence of HIV-related immunocompromise using World Health Organisation (WHO) staging criteria. There was a univariate significant difference in the prevalence of the MetS between antiretroviral therapy (ART)-naïve patients and patients treated by means of a first-line HAART regimen of stavudine (d4T), lamivudine (3TC) and nevirapine (NVP). However, this difference was not significant in multivariate logistic analysis. Conclusion H pylori infection was significantly associated with the MetS in HIV-infected patients. PMID:25940117

  2. 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

  3. Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up.

    PubMed

    Jurecka, Agnieszka; Marucha, Jolanta; Jurkiewicz, Elżbieta; Różdżyńska-Świątkowska, Agnieszka; Tylki-Szymańska, Anna

    2012-12-01

    We present the 6.5-year follow-up of a boy with Scheie syndrome whose therapy was initiated at age 2.5 years. Detailed anthropometric features, echocardiography, ophthalmologic and audiologic examinations, psychologic tests, joint range of motion, skeletal radiographs, ultrasound studies of liver and spleen volumes, urinary glycosaminoglycans, and antibodies were documented. After 6.5 years of enzyme replacement therapy, the patient experienced a decline in overall status, and the disease progressed significantly despite treatment. The patient's height at age 9 was equal to that at age 6. The patient developed heart insufficiency and a deterioration of airway flow. The patient's intelligence quotient remained unchanged, i.e., at the average level of 86 on the Terman-Merill Scale. Magnetic resonance imaging revealed cervical spinal canal stenosis and marked spinal cord compression with myelopathy. A worsening of carpal tunnel syndrome was also evident. Ophthalmologic evaluation revealed increased central corneal thickness and intraocular pressure. In audiologic assessment, the patient's results were similar to those after 3 years of treatment. The only benefit involved temporarily improved passive and active shoulder flexion. Overall, the benefit of enzyme replacement therapy with laronidase on Scheie syndrome appeared minimal. PMID:23127271

  4. 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.; Frölke, 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

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

    PubMed

    Bridges, Nicola

    2014-02-01

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

  6. 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

  7. Intradermal Therapy (Mesotherapy) for the Treatment of Acute Pain in Carpal Tunnel Syndrome: A Preliminary Study

    PubMed Central

    Conforti, Giorgio; Capone, Loredana

    2014-01-01

    Background The carpal tunnel syndrome (CTS) is the most common cause of severe hand pain. In this study we treated acute pain in CTS patients by means of local intradermal injections of anti-inflammatory drugs (mesotherapy). Methods In twenty-five patients (forty-five hands), CTS diagnosis was confirmed by clinical and neurophysiological examination prior to mesotherapy. A mixture containing lidocaine 10 mg, ketoprophen lysine-acetylsalycilate 80 mg, xantinol nicotinate 100 mg, cyanocobalamine 1,000 mcg plus injectable water was used. Sites of injection were three parallel lines above the transverse carpal ligament and two v-shaped lines, one at the base of the thenar eminence, and the other at the base of the hypothenar eminence. Results The day after the treatment, all but four patients reported a significant reduction in pain and paresthesias. After 12 months, 17 patients had a complete pain relief, eight patients reported recurrence of pain and sensory symptoms and four out of them underwent surgical treatment. Conclusions With the obvious limits of a small-size open-label study, our results suggest that mesotherapy can temporary relieve pain and paresthesias in most CTS patients and in some cases its effect seems to be long-lasting. Further controlled studies are needed to confirm our preliminary findings and to compare mesotherapy to conventional approaches for the treatment of CTS. PMID:24478901

  8. 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

  9. Efficacy of Topical Mesenchymal Stem Cell Therapy in the Treatment of Experimental Dry Eye Syndrome Model

    PubMed Central

    Beyazyıldız, Emrullah; Pınarlı, Ferda Alpaslan; Beyazyıldız, Özlem; Hekimoğlu, Emine Rümeysa; Acar, Uğur; Demir, Muhammed Necati; Albayrak, Aynur; Kaymaz, Figen; Sobacı, Güngör; Delibaşı, Tuncay

    2014-01-01

    Purpose. The current study was set out to address the therapeutic efficacy of topically applied mesenchymal stem cells (MSCs) on dry eye syndrome (DES) induced by benzalkonium chloride (BAC) in rats. Methods. Rats were divided into two groups just after establishment of DES. Eye drops containing either bromodeoxyuridine labeled MSCs (n = 9) or phosphate buffer solution (n = 7) were topically applied once daily for one week. Schirmer test, break-up time score, ocular surface evaluation tests, and corneal inflammatory index scoring tests were applied to all rats at baseline and after treatment. All rats were sacrificed after one week for histological and electron microscopic analysis. Results. Mean aqueous tear volume and tear film stability were significantly increased in rats treated with MSCs (P < 0.05). Infiltration of bromodeoxyuridine labeled MSCs into the meibomian glands and conjunctival epithelium was observed in MSCs treated rats. Increased number of secretory granules and number of goblet cells were observed in MSCs treated rats. Conclusion. Topical application of MSCs could be a safe and effective method for the treatment of DES and could potentially be used for further clinical research studies. PMID:25136370

  10. 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

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

    PubMed Central

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

    2016-01-01

    Abstract 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

  12. Outcomes of patients with therapy-related AML/myelodysplastic syndrome (t-AML/MDS) following hematopoietic cell transplantation.

    PubMed

    Alam, N; Atenafu, E G; Kuruvilla, J; Uhm, J; Lipton, J H; Messner, H A; Kim, D H; Seftel, M; Gupta, V

    2015-09-01

    We studied outcomes of 65 consecutive patients with therapy-related AML/myelodyplastic syndrome (t-AML/MDS) who underwent allogeneic hematopoietic cell transplantation (HCT). Previously published scores of HCT-CI, CIBMTR, EBMT and Comorbidity-age index were also evaluated. Median follow-up of survivors was 72 months (range 16-204). At 2 years, overall survival (OS) was 34% (95% confidence interval (CI) 23-45). Nineteen patients (29%) had monosomal karyotype (MK). Patients with MK had an OS of 21% (95% CI 7-41) at 2 years. Abnormal adverse cytogenetics, unrelated donor, bone marrow graft and CIBMTR score were significant risk factors for OS on univariate analysis. On multivariate analysis, abnormal adverse cytogenetics (hazard ratio (HR) 2.7; 95% CI 1.02-7.2; P-value=0.02) and unrelated donor (HR 2.7; 95% CI 1.5-5.0; P-value=0.0013) were independent factors for survival. Non-relapse mortality (NRM) at 2 years was 31% (95% CI 15-47). Donor type was the only factor that was significant for NRM with matched related donors having an NRM of 20% (95% CI 0-42) whereas unrelated donors had NRM of 60% (95% CI 40-80; P-value=0.0007). In conclusion, patients with t-AML/MDS have poor OS. Unrelated donor is a significant risk factor for both higher NRM and decreased OS. Cytogenetics are predictive for OS. PMID:26121109

  13. 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

  14. 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-β) 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.

  15. 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

  16. Prone Position Ventilation Used during a Transfer as a Bridge to Ecmo Therapy in Hantavirus-Induced Severe Cardiopulmonary Syndrome

    PubMed Central

    Cornejo, R.; Ugalde, D.; Llanos, O.; Bisbal, P.; De la Barrera, L.; Romero, C.; Neira, R.; González, Roberto; Gajardo, J.

    2013-01-01

    Background. Transport of critically ill patients is a complex issue. We present a case using prone positioning as a bridge to extracorporeal membrane oxygenation (ECMO), performed by a critical retrieval team from a university hospital. Case Report. A 28-year-old male developed fever, progressive respiratory failure, and shock. He was admitted to ICU from a public hospital, and mechanical ventilation was begun, but clinical response was not adequate. ECMO was deemed necessary due to severe respiratory failure and severe shock. A critical retrieval team of our center was assembled to attempt transfer. Prone positioning was employed to stabilize and transfer the patient, after risk-benefit assessment. Once in our hospital, ECMO was useful to resolve shock and pulmonary edema secondary to Hantavirus cardiopulmonary syndrome. Finally, he was discharged with normal functioning. Conclusion. This case exemplifies the relevance of a retrieval team and bridge therapy. Prone positioning improves oxygenation and is safe to perform as transport if performed by a trained team as in this case. Preparation and organization is necessary to improve outcomes, using teams and organized networks. Catastrophic respiratory failure and shock should not be contraindications to transferring patients, but it must be done with an experienced team. PMID:24829824

  17. Continued Azacitidine Therapy Beyond Time of First Response Improves Quality of Response in Patients With Higher-Risk Myelodysplastic Syndromes

    PubMed Central

    Silverman, Lewis R.; Fenaux, Pierre; Mufti, Ghulam J.; Santini, Valeria; Hellström-Lindberg, Eva; Gattermann, Norbert; Sanz, Guillermo; List, Alan F.; Gore, Steven D.; Seymour, John F.

    2013-01-01

    BACKGROUND In the AZA-001 trial, azacitidine (75 mg/m2/d subcutaneously for Days 1–7 of every 28-day cycle) demonstrated improved survival compared with conventional care regimens in patients with International Prognostic Scoring System-defined intermediate-2- or high-risk myelodysplastic syndrome and World Health Organizationdefined acute myeloid leukemia with 20% to 30% bone marrow blasts. METHODS This secondary analysis of the AZA-001 phase 3 study evaluated the time to first response and the potential benefit of continued azacitidine treatment beyond first response in responders. RESULTS Overall, 91 of 179 patients achieved a response to azacitidine; responding patients received a median of 14 treatment cycles (range, 2–30). Median time to first response was 2 cycles (range, 1–16). Although 91% of first responses occurred by 6 cycles, continued azacitidine improved response category in 48% of patients. Best response was achieved by 92% of responders by 12 cycles. Median time from first response to best response was 3.5 cycles (95% confidence interval [CI], 3.0–6.0) in 30 patients who ultimately achieved a complete response, and 3.0 cycles (95% CI, 1.0–3.0) in 21 patients who achieved a partial response. CONCLUSIONS Continued azacitidine therapy in responders was associated with a quantitative increase in response to a higher response category in 48% of patients, and therefore may enhance clinical benefit in patients with higher-risk MDS. PMID:21656747

  18. 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

  19. 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

  20. [Diabetic foot syndrome and diabetic neuropathic osteoarthropathy (DNOAP): an update of conservative and surgical therapy methods].

    PubMed

    Hofstaetter, S G; Trieb, K

    2014-10-01

    A diabetic foot or Charcot foot diagnosed in time can reduce a lot of problems for the patient, lessen high medical expense, and last but not least prevent an amputation. Good treatment options of the diabetic foot result from new technologies in wound management, angioplastic vessel improvement and optimised orthopaedic aids. Nevertheless it stays a challenging issue for practitioners and medical and health care as well as hospital owners to master this problem which will be even growing in the long run. This article intends to raise the awareness for the diabetic foot and the neuropathic osteoarthropathy, and furthermore illustrate diagnostic steps and offer therapeutic options. After distinguishing the diabetic foot from the Charcot foot a selective therapy for each entity has to be initiated. An interdisciplinary approach of specialists in dermatology, radiology, orthopaedic and internal medicine, plastic surgery and orthopaedic shoemaking is essential for a good therapeutic monitoring in order to avoid the amputation of the lower leg. PMID:25313707

  1. 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

  2. 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

  3. 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

  4. Histopathology of aortic complications in bicuspid aortic valve versus Marfan syndrome: relevance for therapy?

    PubMed

    Grewal, Nimrat; Franken, Romy; Mulder, Barbara J M; Goumans, Marie-José; Lindeman, Johannes H N; Jongbloed, Monique R M; DeRuiter, Marco C; Klautz, Robert J M; Bogers, Ad J J C; Poelmann, Robert E; Groot, Adriana C Gittenberger-de

    2016-05-01

    Patients with bicuspid aortic valve (BAV) and patients with Marfan syndrome (MFS) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV). To elucidate potential common and distinct pathways of clinical relevance, we compared the histopathological substrates of aortopathy. Ascending aortic wall biopsies were divided in five groups: BAV (n = 36) and TAV (n = 23) without and with dilation and non-dilated MFS (n = 8). General histologic features, apoptosis, the expression of markers for vascular smooth muscle cell (VSMC) maturation, markers predictive for ascending aortic dilation in BAV, and expression of fibrillin-1 were investigated. Both MFS and BAV showed an altered distribution and decreased fibrillin-1 expression in the aorta and a significantly lower level of differentiated VSMC markers. Interestingly, markers predictive for aortic dilation in BAV were not expressed in the MFS aorta. The aorta in MFS was similar to the aorta in dilated TAV with regard to the presence of medial degeneration and apoptosis, while other markers for degeneration and aging like inflammation and progerin expression were low in MFS, comparable to BAV. Both MFS and BAV aortas have immature VSMCs, while MFS and TAV patients have a similar increased rate of medial degeneration. However, the mechanism leading to apoptosis is expected to be different, being fibrillin-1 mutation induced increased angiotensin-receptor-pathway signaling in MFS and cardiovascular aging and increased progerin in TAV. Our findings could explain why angiotensin inhibition is successful in MFS and less effective in TAV and BAV patients. PMID:26129868

  5. The IDEAL DVT study, individualised duration elastic compression therapy against long-term duration of therapy for the prevention of post-thrombotic syndrome: protocol of a randomised controlled trial

    PubMed Central

    ten Cate-Hoek, Arina J; Bouman, Annemieke C; Joore, Manuela A; Prins, Martin; ten Cate, Hugo

    2014-01-01

    Introduction Post-thrombotic syndrome (PTS) is a serious complication of deep vein thrombosis (DVT) of the leg that affects 20–50% of patients. Once a patient experiences PTS there is no treatment that effectively reduces the debilitating complaints. Two randomised controlled trials showed that elastic compression stocking (ECS) therapy after DVT for 24 months can reduce the incidence of PTS by 50%. However, it is unclear whether all patients benefit to the same extent from ECS therapy or what the optimal duration of therapy for individual patients should be. ECS therapy is costly, inconvenient, demanding and sometimes even debilitating. Tailoring therapy to individual needs could save substantial costs. The objective of the IDEAL DVT study, therefore, is to evaluate whether tailoring the duration of ECS therapy on signs and symptoms of the individual patient is a safe and effective method to prevent PTS, compared with standard ECS therapy. Methods and analysis A multicentre, single-blinded, allocation concealed, randomised, non-inferiority trial. A total of 864 consecutive patients with acute objectively documented proximal DVT of the leg are randomised to either standard duration of 24 months or tailored duration of ECS therapy following an initial therapeutic period of 6 months. Signs and symptoms of PTS are recorded at regular clinic visits. Furthermore, quality of life, costs, patient preferences and compliance are measured. The primary outcome is the proportion of patients with PTS at 24 months. Ethics and dissemination Based on current knowledge the standard application of ECS therapy is questioned. The IDEAL DVT study will address the central questions that remain unanswered: Which individual patients benefit from ECS therapy and what is the optimal individual treatment duration? Primary ethics approval was received from the Maastricht University Medical Centre. Results Results of the study will be disseminated via peer-reviewed publications and presentations at scientific conferences. Trial registration number NCT01429714 and NTR 2597. PMID:25190617

  6. Subchronic administration and combination metabotropic glutamate and GABAB receptor drug therapy in fragile X syndrome.

    PubMed

    Pacey, Laura K K; Tharmalingam, Sujeenthar; Hampson, David R

    2011-09-01

    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 GABA(B) receptor (GABA(B)R) 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 GABA(B) receptor agonists, alone and in combination on receptor protein expression and audiogenic seizures in FMR1 mice. Single doses of MPEP (30 mg/kg), the GABA(B)R orthosteric agonist R-baclofen (1 mg/kg), or the GABA(B)R-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

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

    PubMed Central

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

    2014-01-01

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

  8. 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

  9. 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

  10. 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

  11. A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.

    PubMed

    Winner, Leanne K; Beard, Helen; Hassiotis, Sofia; Lau, Adeline A; Luck, Amanda J; Hopwood, John J; Hemsley, Kim M

    2016-05-01

    Mucopolysaccharidosis type IIIA (MPS IIIA) is predominantly a disorder of the central nervous system, caused by a deficiency of sulfamidase (SGSH) with subsequent storage of heparan sulfate-derived oligosaccharides. No widely available therapy exists, and for this reason, a mouse model has been utilized to carry out a preclinical assessment of the benefit of intraparenchymal administration of a gene vector (AAVrh10-SGSH-IRES-SUMF1) into presymptomatic MPS IIIA mice. The outcome has been assessed with time, measuring primary and secondary storage material, neuroinflammation, and intracellular inclusions, all of which appear as the disease progresses. The vector resulted in predominantly ipsilateral distribution of SGSH, with substantially less detected in the contralateral hemisphere. Vector-derived SGSH enzyme improved heparan sulfate catabolism, reduced microglial activation, and, after a time delay, ameliorated GM3 ganglioside accumulation and halted ubiquitin-positive lesion formation in regions local to, or connected by projections to, the injection site. Improvements were not observed in regions of the brain distant from, or lacking connections with, the injection site. Intraparenchymal gene vector administration therefore has therapeutic potential provided that multiple brain regions are targeted with vector, in order to achieve widespread enzyme distribution and correction of disease pathology. PMID:26975339

  12. 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

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

    PubMed Central

    2012-01-01

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

  14. 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

  15. 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

  16. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  17. 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.

  18. Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

    PubMed Central

    Jeong, Insook; Kang, Eungu; Cho, Ja Hyang; Kim, Gu-Hwan; Lee, Beom Hee; Choi, Jin-Ho

    2016-01-01

    Purpose Noonan syndrome (NS) is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH) treatment on the improvement of height. This study was performed to evaluate the long-term efficacy of rhGH in children with NS in Korea. Methods This study included 15 prepubertal NS children who received rhGH subcutaneously at a dose of 50–75 µg/kg/day for 6 days a week for at least >3 years. Preand posttreatment data, such as height, weight, bone age, insulin-like growth factor 1 (IGF-1), and IGF binding protein 3 (IGFBP-3) levels, were collected every 6 months. Results Chronologic age and bone age at the start of treatment were 7.97±1.81 and 5.09±2.12 years, respectively. Height standard deviation score (SDS) was increased from –2.64±0.64 to –1.54±1.24 years after 3 years (P<0.001). Serum IGF-1 SDS levels were elevated from –1.28±1.03 to –0.10±0.94 (P<0.001). Height SDS was more increased in subjects without PTPN11 mutations compared to those with mutations after 3 years (P=0.012). However, the other parameters, including bone age, IGF-1 SDS, and IGFBP-3 SDS, were not significantly different between patients with and without PTPN11 mutations. Conclusion Although this study included a relatively small number of patients, long-term rhGH therapy in NS patients was safe and effective at improving height, growth velocity, and serum IGF-1 levels, in accordance with previous studies. However, the meticulous monitoring of potential adverse events is still needed because of high dose of rhGH and preexisting hyperactivity of RAS-MAPK pathway. Patients with PTPN11 mutations demonstrated a decreased response to rhGH therapy compared to those without mutations. PMID:27104176

  19. 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

  20. 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

  1. 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

  2. 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

  3. Metabolic syndrome before and after initiation of antiretroviral therapy in treatment-naïve HIV-infected individuals

    PubMed Central

    Krishnan, S; Schouten, JT; Atkinson, B; Brown, T; Wohl, D; McComsey, GA; Glesby, MJ; Shikuma, C; Haubrich, R; Tebas, P; Campbell, TB; Jacobson, DL

    2012-01-01

    Background Metabolic syndrome (MetS) is a cluster of risk factors for cardiovascular disease and diabetes, many of which are associated with HIV and antiretroviral therapy (ART). We examined prevalence and incidence of MetS, and risk factors for MetS in ART-naïve HIV-infected individuals starting ART. Methods MetS, defined by the Adult Treatment Panel III criteria, was assessed at and after ART initiation in HIV-infected individuals who enrolled in selected AIDS Clinical Trials Group (ACTG) trials and were followed long-term after these trials as part of the ACTG Longitudinal Linked Randomized Trials cohort. Cox proportional hazards models were used to examine risk factors of incident MetS. Adjusted hazard ratios (aHR) and 95% confidence intervals (CI) are reported. Results At ART initiation, the prevalence of MetS was 20%. After ART initiation, the incidence of MetS was 8.5 per 100 person-years. After adjusting for demographics and body mass index, the risk of MetS was decreased for CD4+ T-cell counts>50 cells/mm3 (aHR = 0.62, 95% CI=0.43 to 0.90 for CD4>500), and the risk was increased for HIV-1 RNA >400 copies/mL (aHR=1.55 (95% CI=1.25 to 1.92) and use of a protease-inhibitor (PI) based regimen (relative to no PI use, aHR=1.25 (95% CI=1.04 to 1.51) for any PI use). Conclusion In HIV-infected individuals on ART, virologic suppression and maintenance of high CD4+ T-cell counts may be potentially modifiable factors that can reduce the risk of MetS. The effect of MetS on the risk of cardiovascular disease and diabetes needs to be evaluated. PMID:22828718

  4. 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

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

    PubMed Central

    Mehrholz, Jan; Mückel, 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 (Landesärztekammer 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

  6. 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

  7. 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.

  8. Myelodysplastic syndromes.

    PubMed Central

    Doll, D C; List, A F

    1989-01-01

    The myelodysplastic syndromes are a heterogeneous group of hematopoietic stem cell disorders characterized by dysplastic and ineffective hematopoiesis and a varying risk of transformation to acute leukemia. Although the natural history of these syndromes is variable, several factors appear to be of prognostic importance, including the French-American-British classification, the karyotype, in vitro colony formation, and others. The pathogenesis of the myelodysplastic syndrome is not known, but recent evidence suggests that alterations of cellular oncogenes may be a causative factor. There is no standard therapy for myelodysplasia, and thus novel approaches to patient management are warranted. PMID:2672599

  9. 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

  10. Development of cryptococcal immune reconstitution inflammatory syndrome 41 months after the initiation of antiretroviral therapy in an AIDS patient.

    PubMed

    Hashimoto, Hideki; Hatakeyama, Shuji; Yotsuyanagi, Hiroshi

    2015-01-01

    Cryptococcal meningitis is one of the most lethal fungal infections in patients with acquired immune deficiency syndrome (AIDS). The incidence of and mortality from cryptococcal meningitis have markedly decreased since the introduction of combination antiretroviral therapy (cART). However, despite its benefits, the initiation of cART results in immune reconstitution inflammatory syndrome (IRIS) in some patients. Although IRIS is occasionally difficult to distinguish from relapse or treatment failure, the distinction is important because IRIS requires a different treatment. Here, we present the case of a patient with AIDS who developed symptoms of cryptococcal IRIS 41 months after starting cART. To the best of our knowledge, the time between cART initiation and the onset of cryptococcal IRIS in this patient is the longest that has been reported in the literature. PMID:26425133

  11. 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

  12. Using a Contradictory Approach to Treat a Wound Induced by Hematoma in a Patient With Antiphospholipid Antibody Syndrome Using Negative Pressure Wound Therapy: Lessons Learnt.

    PubMed

    Jang, Min Young; Hong, Joon Pio; Bordianu, Anca; Suh, Hyun Suk

    2015-09-01

    A 48-year-old woman with antiphospholipid syndrome (APS) had multiple skin necrosis caused by massive bleeding and hematoma collection at the right lower leg, left thigh, and abdomen. During the first month, we did surgical debridement every 2 to 3 days with meticulous coagulation and applied negative pressure wound therapy (NPWT). Then as the base showed initial granulation, we changed the NPWT every 4 days. NPWT was used with lower pressure and cyclic mode (-40 to -75 mm Hg) to minimize trauma and to reduce the possibility of bleeding from the wounds. After 2 months of NPWT treatment, all the wounds eventually healed with secondary intension despite the patient's condition with diabetes, hemodialysis, anticoagulant use, and corticosteroid therapy. This report supports the idea that if accompanied by conservative debridement with meticulous bleeding control, application of NPWT in low pressures and close monitoring of the patient, NPWT is possible to use even in wounds of patients with risk for bleeding. PMID:26248826

  13. Proton pump inhibitor co-prescription with dual antiplatelet therapy among patients with acute coronary syndrome in Qatar.

    PubMed

    Awaisu, Ahmed; Hamou, Fatima; Mekideche, Lylia; Muabby, Nisrine El; Mahfouz, Ahmed; Mohammed, Shaban; Saad, Ahmad

    2016-04-01

    Background There are increasing concerns about clinically significant interactions between proton pump inhibitors (PPIs) and clopidogrel, resulting in adverse cardiovascular outcomes in patients with acute coronary syndromes (ACS). However, published evidence on the prevalence and predictors of PPI use with dual antiplatelet therapy (DAPT) is scarce. Objective This study investigated the prevalence of PPI use among patients with ACS receiving DAPT and possible predictors of co-prescribing the PPIs with the DAPT. Setting Heart Hospital, a specialized tertiary care center in Qatar. Methodology A retrospective observational study of a prescription database was conducted. Subjects included 626 patients admitted between January and December 2012 with the diagnosis of ACS who received DAPT and discharged with or without a PPI. Univariate analysis and multivariate binary logistic regression analysis were performed to determine the predictors of PPI-DAPT co-prescription. Main outcome measures Prevalence of PPI co-prescribing with DAPT in proportions and percentages and odd ratios for the predictors of PPI-DAPT co-prescribing. Results A total of 626 patients were analyzed for PPI prevalence, with 200 patients (32 %) being prescribed PPI with DAPT upon discharge. After controlling for confounders, PPI use on admission (aOR 14.5; 95 % CI 7.6-27.6, p < 0.001), nationality (aOR 3.2; 95 % CI 1.1-9.9, p = 0.041), and having a history of diabetes (aOR 0.5; 95 % CI 0.24-0.99, p = 0.046) significantly influenced PPI-DAPT co-prescribing. Users of PPI on admission compared to nonusers were about 15 times more likely to be prescribed PPI with DAPT upon discharge; likewise, having Qatari nationality increased the likelihood of co-prescribing PPI with DAPT upon discharge by three folds. Lastly, patients with a history of diabetes were 50 % less likely to be prescribed PPIs upon discharge compared to those with no history of diabetes. Conclusion The rate of PPI co-prescribing with DAPT in the population studied was relatively high. The strongest predictor of PPI co-prescription with DAPT upon discharge was PPI use on admission. Furthermore, PPI prescribing was significantly predicted by nationality and not having diabetes. Further studies are warranted to better predict the factors associated with PPI-DAPT co-prescription and to investigate rational prescribing of PPIs among ACS patients. PMID:26749343

  14. 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

  15. A Case Report of Turner Syndrome with Graves’ Disease during Recombinant Human GH Therapy and Review of Literature

    PubMed Central

    Nakagawa, Makio; Inamo, Yasuji; Harada, Kensuke

    2006-01-01

    An increased incidence of Hashimoto thyroiditis has been reported in patients with Turner syndrome, but several cases of Graves’ disease were also described ten to 20 years ago. We report the case of a patient with Turner syndrome who developed Graves’ disease, 3 years after successful treatment with recombinant human growth hormone (GH). A diagnosis of Graves’ disease was made and treatment with thiamazole was started, which resulted in normalization of the thyroid function. It is important to monitor thyroid function as well as growth parameters in patients with Turner syndrome. PMID:24790321

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

    PubMed Central

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

    2014-01-01

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

  17. Down Syndrome

    MedlinePLUS

    ... be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  18. 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

  19. 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

  20. Effect of Positive Airway Pressure Therapy on Body Mass Index in Obese Patients With Obstructive Sleep Apnea Syndrome: A Prospective Study.

    PubMed

    Rishi, Muhammad Adeel; Copur, Ahmet Sinan; Nadeem, Rashid; Fulambarker, Ashok

    2016-01-01

    Because obesity is a common cause of obstructive sleep apnea syndrome (OSAS), weight loss can be an effective treatment. OSAS also may cause weight gain in some patients. Effective treatment of sleep apnea may facilitate weight loss in obese patients. We hypothesize that positive airway pressure (PAP) therapy is associated with weight loss in obese patients with OSAS. This was a single-center observational prospective cohort study. Forty-five patients were diagnosed with OSAS after polysomnographic analysis in sleep laboratory and underwent continuous positive airway pressure titration. Patients were followed for 3 months in terms of change in body mass index (BMI) and compliance with PAP therapy. Of the 45 patients recruited, 3 patients were eliminated because of miss recruitment. Nine patients had incomplete data, and the rest (n = 33) were included for analysis. The mean age was 54.9 ± 16.9 years (mean ± SD), 93.9% were male, and 90.9% were whites. Mean apnea-hypopnea index was 36.3 ± 28.17 events per hour. Mean BMI before treatment was 34.7 ± 3.9 kg/m. Fifteen patients (45.5%) were compliant with therapy of OSAS with PAP. There was no difference in age, gender, neck circumference, BMI, and apnea-hypopnea index of patients compliant to therapy when compared with those who were not. There was a significant decrease in BMI in patients compliant with PAP therapy compared with noncompliant patients (-1.2 ± 0.7 vs. 0.3 ± 0.9 kg/m, P ≤ 0.001). PAP therapy may cause significant loss of weight within 3 months in obese patients with OSAS. Further study is needed to elucidate the physiological basis of this change. PMID:25563675

  1. t(3;21)(q26;q22): a recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia.

    PubMed

    Rubin, C M; Larson, R A; Anastasi, J; Winter, J N; Thangavelu, M; Vardiman, J W; Rowley, J D; Le Beau, M M

    1990-12-15

    We have identified an identical reciprocal translocation between the long arms of chromosomes 3 and 21 with breakpoints at bands 3q26 and 21q22, [t(3;21)(q26;q22)], in the malignant cells from five adult patients with therapy-related myelodysplastic syndrome (t-MDS) or acute myeloid leukemia (t-AML). Primary diagnoses were Hodgkin's disease in two patients and ovarian carcinoma, breast cancer, and polycythemia vera in one patient each. Patients had been treated with chemotherapy including an alkylating agent for their primary disease 1 to 18 years before the development of t-MDS or t-AML. We have not observed the t(3;21) in over 1,500 patients with a myelodysplastic syndrome or acute myeloid leukemia arising de novo or in over 1,000 patients with lymphoid malignancies. We have previously reported that the t(3;21) occurs in Philadelphia chromosome-positive chronic myelogenous leukemia (CML). Thus, the t(3;21) appears to be limited to t-MDS/t-AML and CML, both of which represent malignant disorders of an early hematopoietic precursor cell. These results provide a new focus for the study of therapy-related leukemia at the molecular level. PMID:2265251

  2. 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

  3. 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 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

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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

  8. 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.

  9. 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 ...

  10. 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

  11. Effect of high-intensity laser therapy in the management of myofascial pain syndrome of the trapezius: a double-blind, placebo-controlled study.

    PubMed

    Dundar, Umit; Turkmen, Utku; Toktas, Hasan; Solak, Ozlem; Ulasli, Alper Murat

    2015-01-01

    Myofascial pain syndrome (MPS) of the trapezius muscle is one of the main causes of neck pain. In this randomized, double-blind study, we evaluated the effects of high-intensity laser therapy (HILT) in female patients with chronic MPS of the trapezius muscle. The patients were assigned to two groups. The HILT group was treated with HILT and exercise, and the sham therapy group was treated with placebo HILT and exercise. The patients were assessed for pain, cervical active range of motion, disability, and quality of life. Evaluations were performed before treatment (week 0) and after treatment (weeks 4 and 12). Both groups showed significant improvement in all parameters at weeks 4 and 12. However, in a comparison of the percentage changes in the parameters at weeks 4 and 12 relative to pretreatment values, the HILT group showed greater improvement in pain scores, the neck disability index, and several subparts of the short-form 36 health survey (SF-36) (physical functioning, role limitations due to physical functioning, bodily pain, general health perceptions, social functioning, and role limitations due to emotional problems) than did the sham therapy group. We conclude that HILT is an effective therapeutic method in the treatment of patients with chronic MPS of the trapezius muscle. PMID:25274197

  12. Identification and validation of the dopamine agonist bromocriptine as a novel therapy for high-risk myelodysplastic syndromes and secondary acute myeloid leukemia

    PubMed Central

    Liberante, Fabio Giuseppe; Pouryahya, Tara; McMullin, Mary-Frances

    2016-01-01

    Myelodysplastic syndromes (MDS) represent a broad spectrum of diseases characterized by their clinical manifestation as one or more cytopenias, or a reduction in circulating blood cells. MDS is predominantly a disease of the elderly, with a median age in the UK of around 75. Approximately one third of MDS patients will develop secondary acute myeloid leukemia (sAML) that has a very poor prognosis. Unfortunately, most standard cytotoxic agents are often too toxic for older patients. This means there is a pressing unmet need for novel therapies that have fewer side effects to assist this vulnerable group. This challenge was tackled using bioinformatic analysis of available transcriptomic data to establish a gene-based signature of the development and progression of MDS. This signature was then used to identify novel therapeutic compounds via statistically-significant connectivity mapping. This approach suggested re-purposing an existing and widely-prescribed drug, bromocriptine as a novel potential therapy in these disease settings. This drug has shown selectivity for leukemic cells as well as synergy with current therapies. PMID:26735888

  13. [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

  14. 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…

  15. 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.

  16. [Carpal tunnel syndrome in children with mucopolysaccharidosis type 1H: diagnosis and therapy in an interdisciplinary centre].

    PubMed

    Meyer-Marcotty, M V; Kollewe, K; Dengler, R; Grigull, L; Altintas, M A; Vogt, P M

    2012-01-01

    Carpal tunnel syndrome is common in children with mucopolysaccharidosis type 1H (MPS type 1H). Clinical signs of carpal tunnel syndrome are frequently absent in these children and it is often very difficult to perform and interpret neurophysiological investigations. In this article we wish to present our experience and results regarding the diagnosis and postoperative results after decompression of the median nerve.In an interdisciplinary set-up we are currently treating 11 MPS type 1H children following blood stem cell transplantation. 7 patients were operated 12 times (5 bilateral operations) because of a carpal tunnel syndrome (age at the time of operation 83,3 months, (43-143 months), 2 male, 5 female). 6 patients had a follow up after 23,7 months (9-59 months). 6 patients had a histological analysis of the flexor retinaculum. Three patients had a postoperative neurophysiological investigation.Each of the operated patients had at least 1 preoperative clinical sign of a carpal tunnel syndrome. We found at least 1 pathological finding in motor and sensory nerve conduction studies in each patient. 6 of the 7 children operated on were symptom-free at postoperative follow-up. 1 of the 3 patients with a postoperative neurophysiological follow up showed a deterioration of the nerve conduction studies. This patient was free of symptoms postoperatively. Biopsy of the flexor retinaculum confirmed abundant proteoglycan deposition. We had neither postoperative complications nor were revisional operations necessary.The Diagnosis of a carpal tunnel syndrome in children with MPS Typ 1H needs a thorough medical history, the correct interpretation of the clinical symptoms and sophisticated nerve conduction studies. Wether the improvement of the postoperative clinical situation lasts has to be evaluated in a long term investigation especially because in one patient in our group we saw a deterioration of the nerve conduction studies postoperatively. PMID:22382905

  17. [Diogenes syndrome].

    PubMed

    Klosterkötter, J; Peters, U H

    1985-11-01

    Endogenous or physically conditioned psychoses are usually considered to be the underlying cause of signs of extreme self-neglect and social retreat if these occur suddenly in persons who had been socially successful up to that time. However, in recent years several independent researchers have found extreme sociocultural refusal attitudes even in patients not displaying any psychotic disturbances. This unexpected result led to a new syndrome concept which has since been accepted internationally under the designation "Diogenes syndrome". Hence, the Diogenes syndrome comprises shameless neglect of body and personal environment, associated with collectionism, social retreat and rejection of any well-meant help. It has been reported that this constellation of signs allegedly occurs with enhanced frequency in women over 60 years of age with self-isolation tendencies in their previous life history. The following article reviews the literature published so far on the Diogenes syndrome and presents two cases treated by the authors, as a suitable means to re-examine and to define the new syndrome concept more precisely. The following conclusions can be drawn from the cases already reported in the literature and the two cases newly presented here: The socioculturally complete rejection associated with the Diogenes syndrome is the final result of a personality-based abnormal emotional reaction development. Marked seclusion tendencies in the previous life history, as well as organic brain diseases, are relevant. Medical treatment can be successful mainly by means of behaviour therapy techniques. PMID:4077006

  18. Calcul par simulation des paramètres dosimétriques pour le noyau cellulaire après irradiation α in vitro

    NASA Astrophysics Data System (ADS)

    Le Foll, L.; Bailly, I.; Fritsch, P.

    1998-04-01

    Determination of absorbed dose in biological targets after high LET α particules irradiation needs heavy calculations. A softwave has been developed in order to allow everyone to calculate hit probability and absorbed dose. It is particularly adapted to the study of cell cultures irradiated with electrodeposited source or α-beam accelerator. It is based first, on a random generator of α-track homogeneously distributed in 4π, second, on the evaluation of energy loss in the different media along the track and then on a statistical analysis of the results. This method is accurate and low time consuming. The target is either modelised by an ellipsoid or represented by its 3D shape recorded using confocal microscopy. Des calculs dosimétriques complexes sont nécessaires pour l'évaluation des doses délivrées dans des cibles biologiques après irradiation par des particules α de haut TEL. Un logiciel a été développé pour rendre facilement accessible le calcul de la probabilité pour atteindre la cible et de la dose absorbée. il est particulièrement adapté à l'étude des cultures cellulaires irradiées par des sources électrodéposées de radionucléides ou des accélérateurs de particules. Il repose sur un générateur de traces aléatoires, sur une approximation de la perte d'énergie dans les différents milieux traversés et sur une exploitation statistique des résultats obtenus. Cette méthode s'avère précise et rapide. La cible est modélisée par un ellipsoïde ou représentée par son image 3D obtenue en microscopie confocale.

  19. Should patients with high-risk or transformed myelodysplastic syndrome proceed directly to allogeneic transplant without prior cytoreduction by remission-induction chemotherapy or hypomethylating agent therapy?

    PubMed

    de Witte, Theo M; Bowen, David; Robin, Marie; Malcovati, Luca; Mufti, Ghulam; Niederwieser, Dietger; Yakoubagha, Ibrahim; Kröger, Nicolaus

    2014-09-01

    The selection of a treatment strategy before allogeneic hematopoietic stem cell transplant (HSCT) for myelodysplastic syndrome is a delicate process. The expected relapse risk and nonrelapse mortality after HSCT and the response rates to the pretransplant strategies all play a role in this process. Fit patients younger than 60 to 65 years with > 10% marrow blasts and without high-risk cytogenetic abnormalities should be seriously considered for intensive chemotherapy (ICT) to reduce tumor load before HSCT. Other patients up to the age of 75 years may be considered for hypomethylating agent therapy before transplant. Patients with high-risk cytogenetic abnormalities should be treated in investigational protocols if they are not candidates for ICT. PMID:25486954

  20. 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

  1. 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

  2. Proteomics Approach Identifies Factors Associated With the Response to Low-Density Lipoprotein Apheresis Therapy in Patients With Steroid-Resistant Nephrotic Syndrome.

    PubMed

    Kuribayashi-Okuma, Emiko; Shibata, Shigeru; Arai, Shigeyuki; Ota, Tatsuru; Watanabe, Sumiyo; Hisaki, Harumi; Okazaki, Tomoki; Toda, Tosifusa; Uchida, Shunya

    2016-04-01

    Low-density lipoprotein apheresis (LDL-A) has been shown to reduce proteinuria in a subgroup of nephrotic syndrome patients refractory to immunosuppressive therapy. Factors influencing the efficacy of LDL-A in nephrotic syndrome are completely unknown. Using a proteomics approach, we aimed to identify biological markers that predict the response to LDL-A in patients with steroid-resistant nephrotic syndrome (SRNS). Identification of plasma proteins bound to the dextran-sulfate column at the first session of LDL-A was determined by mass spectrometry. To investigate biological factors associated with the response to LDL-A, we compared profiles of column-bound proteins between responders (defined by more than 50% reduction of proteinuria after the treatment) and non-responders by 2-dimensional gel electrophoresis (2-DE) coupled to mass spectrometry in seven patients with SRNS. Evaluation of proteins adsorbed to LDL-A column in patients with SRNS revealed the identity of 62 proteins, which included apolipoproteins, complement components, and serum amyloid P-component (SAP). Comparative analysis of the column-bound proteins between responders and non-responders by 2-DE demonstrated that apolipoprotein E (APOE) and SAP levels were increased in non-responders as compared with responders. These results were confirmed by western blotting. Moreover, serum levels of APOE and SAP were significantly higher in the non-responder group than in the responder group by ELISA. Our data provide comprehensive analysis of proteins adsorbed by LDL-A in SRNS, and demonstrate that the serum levels of APOE and SAP may be used to predict the response to LDL-A in these patients. PMID:26771065

  3. 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

  4. 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).

  5. 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.

  6. Clinical review: Exogenous surfactant therapy for acute lung injury/acute respiratory distress syndrome--where do we go from here?

    PubMed

    Dushianthan, Ahilanandan; Cusack, Rebecca; Goss, Victoria; Postle, Anthony D; Grocott, Mike P W

    2012-01-01

    Acute lung injury and acute respiratory distress syndrome (ARDS) are characterised by severe hypoxemic respiratory failure and poor lung compliance. Despite advances in clinical management, morbidity and mortality remains high. Supportive measures including protective lung ventilation confer a survival advantage in patients with ARDS, but management is otherwise limited by the lack of effective pharmacological therapies. Surfactant dysfunction with quantitative and qualitative abnormalities of both phospholipids and proteins are characteristic of patients with ARDS. Exogenous surfactant replacement in animal models of ARDS and neonatal respiratory distress syndrome shows consistent improvements in gas exchange and survival. However, whilst some adult studies have shown improved oxygenation, no survival benefit has been demonstrated to date. This lack of clinical efficacy may be related to disease heterogeneity (where treatment responders may be obscured by nonresponders), limited understanding of surfactant biology in patients or an absence of therapeutic effect in this population. Crucially, the mechanism of lung injury in neonates is different from that in ARDS: surfactant inhibition by plasma constituents is a typical feature of ARDS, whereas the primary pathology in neonates is the deficiency of surfactant material due to reduced synthesis. Absence of phenotypic characterisation of patients, the lack of an ideal natural surfactant material with adequate surfactant proteins, coupled with uncertainty about optimal timing, dosing and delivery method are some of the limitations of published surfactant replacement clinical trials. Recent advances in stable isotope labelling of surfactant phospholipids coupled with analytical methods using electrospray ionisation mass spectrometry enable highly specific molecular assessment of phospholipid subclasses and synthetic rates that can be utilised for phenotypic characterisation and individualisation of exogenous surfactant replacement therapy. Exploring the clinical benefit of such an approach should be a priority for future ARDS research. PMID:23171712

  7. 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

  8. 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

  9. 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

  10. Usher Syndrome

    MedlinePLUS

    ... Rare Diseases Information Center (GARD) Print friendly version Usher syndrome Table of Contents Overview Symptoms Cause Inheritance ... pigmentosa syndrome Dystrophia retinae pigmentosa-dysostosis syndrome Graefe-Usher syndrome Hallgren syndrome Usher's syndrome Related Diseases Usher ...

  11. 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

  12. Clinical markers of immunodeficiency and mechanism of immune reconstitution inflammatory syndrome and highly active antiretroviral therapy on HIV: workshop 3A.

    PubMed

    Ramirez-Amador, V; Nittayananta, W; Magalhães, M; Flint, S R; Peters, B S; Tappuni, A R

    2011-04-01

    Antiretroviral therapy (ART) has improved survival and changed the disease pattern of HIV infection. However, ART may cause serious side effects, such as metabolic and cardiovascular complications. In addition, immune reconstitution inflammatory syndrome (IRIS) is being increasingly reported in relation to ART. The article presents the consensus of a workshop around 4 key issues: (1) the differences in the response of adults and children to highly active antiretroviral therapy, (2) the mechanism of the new HIV entry inhibitors and its effect on oral markers, (3) the pathogenesis of IRIS and the contradictory findings of the possible oral lesions related with IRIS, (4) and the benefits and barriers associated with using ART in the developing and developed world. The consensus of the workshop was that there is a need for future studies on the oral manifestations of HIV in individuals treated with new ARTs-especially, children. IRIS was considered a promising field for future research; as such, workshop attendees recommended formulating an IRIS-oral lesions case definition and following strict criteria for its diagnosis. PMID:21441499

  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. 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

  15. Tropical diabetic hand syndrome.

    PubMed

    Tiwari, Sangeeta; Chauhan, Ashutosh; Sethi, N T

    2008-10-01

    Tropical diabetic hand syndrome (TDHS) is a terminology used to describe a specific complication affecting patients with diabetes mellitus in the tropics. The syndrome encompasses a localized cellulitis with variable swelling and ulceration of the hands to progressive, fulminant hand sepsis, potentially fatal. Since this syndrome is less recognized it is often under-reported. Authors present two cases of TDHS and emphasize on aggressive glycemic control and surgical therapy to prevent potential crippling or fatal complications. PMID:20165601

  16. 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

  17. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

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

    2011-03-01

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

  18. 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

  19. Lupus erythematosus and lichen planus overlap syndrome:a case report with a rapid response to topical corticosteroid therapy

    PubMed Central

    Demirci, Gulsen Tukenmez; Altunay, Ilknur Kıvanç; Sarıkaya, Sezgi; Sakiz, Damlanur

    2011-01-01

    Lupus erythematosus (LE) and lichen planus (LP) may occur as an overlap syndrome. We report the clinical characteristics of a young man with lesions diagnosed as LE and LP by histopathological and direct immunoflurosence examinations. We achieved remarkable clinical response from the treatment with topical corticosteroids and no recurrence was seen in a 6 months of follow up time. We found this case interesting because of the rapid improvement with corticosteroid and discussed if there is a real overlap or a coexistence according to the literature. PMID:25386300

  20. Use of an Intrathecal Catheter for Analgesia, Anesthesia, and Therapy in an Obstetric Patient with Pseudotumor Cerebri Syndrome.

    PubMed

    Gragasin, Ferrante S; Chiarella, Angelo B

    2016-03-15

    Pseudotumor cerebri syndrome (PTCS) is a rare disorder chiefly observed in obese women of childbearing age. We describe a case of a parturient with PTCS managed successfully with an intrathecal catheter, after inadvertent dural puncture, for labor analgesia, surgical anesthesia, and treatment of headache because of intracranial hypertension during the peripartum period. Prolonged placement of the intrathecal catheter (i.e., >24 hours) may have contributed to the absence of postdural puncture headache symptoms and an uneventful postpartum period. Intrathecal catheter placement may therefore be a viable option in patients with PTCS should inadvertent dural puncture occur. PMID:26825990

  1. Efficacy of EMLA cream phonophoresis comparison with ultrasound therapy on myofascial pain syndrome of the trapezius: a single-blind, randomized clinical study.

    PubMed

    Ustun, Nilgun; Arslan, Fatma; Mansuroglu, Ayhan; Inanoglu, Deniz; Yagız, Abdullah Erman; Guler, Hayal; Turhanoglu, Ayse Dicle

    2014-04-01

    The aim of this study is to investigate whether eutectic mixture of local anesthetics (EMLA) cream phonophoresis superior to conventional US over the trigger points (TPs) in terms of improvements of pain, range of motion and disability in myofascial pain syndrome (MPS). Fifty patients (42 female, 8 male) diagnosed with MPS were included in the study. Patients were randomly assigned into two treatment groups including phonophoresis (PH) group (n = 25) and ultrasound (US) group (n = 25). PH group received EMLA cream phonophoresis (2.5 % lidocaine, 2.5 % prilocaine); US group received conventional ultrasound therapy over the all active TPs on trapezius muscle for 10 min a day for 15 sessions. Outcome measures were performed before the treatment course and at the end of a 15-session course of treatment. Student T, Mann-Whitney U, chi-square and Wilcoxon tests were used for statistical analysis. At the end of the therapy, there was statistically significant decrease in both PH group and US group in terms of number of trigger point (NTP) (p = 0.001, p = 0.029), pain intensity on movement (p = 0.001 vs. 0.002) and right/left cervical lateral ROMs (p = 0.001/p = 0.001, p = 0.009/p = 0.020) relative to baseline. The NTP decrease in PH group was significantly higher than that in US group (1.84 ± 1.46 vs. 0.72 ± 1.45; p = 0.01). Pain intensity at rest (p = 0.001) and NPDI scores (p = 0.001) were statistically improvement in only PH group. EMLA cream phonophoresis is more effective than conventional ultrasound therapy in terms of pain and associated neck disability, and it seems the complementary treatment option for MPS. PMID:24149990

  2. A four-year longitudinal study of palatal plate therapy in children with Down syndrome: effects on oral motor function, articulation and communication preferences.

    PubMed

    Carlstedt, Kerstin; Henningsson, Gunilla; Dahllöf, Göran

    2003-02-01

    The orofacial function in 20 children with Down syndrome was evaluated after 4 years of palatal plate therapy in 9 of the children (PPG); the remaining 11 were untreated age-matched controls (CG). All 20 children had received continuous orofacial physical therapy from their speech therapist during the treatment period. A clinical extra- and intraoral examination was performed, including oral motor function, facial expression, the occurrence of malocclusions, and hypertrophic tonsils. A questionnaire requesting data on breathing patterns, drooling, eating problems, and communicative preferences was answered by the parents. An articulation assessment was performed by two speech and language pathologists blinded to the treatment status of the children in order to find out whether the palatal plate had stimulated to improved oral speech behavior. The results for oral motor function showed significant differences between the groups in favor of the PPG for the summary variables for: visible tongue (P < 0.01), visible tongue during non-speech periods (P < 0.05), and lip-rounding during spontaneous speech (P < 0.01). During non-speech time, the PPG had their mouths open significantly less than the CG (P < 0.05). Expressivity of facial expression on a visual analog scale in the PPG scored 75.6 +/- 13.3 compared to 51.8 +/- 25.7 in the CG (P < 0.05). The intraoral examination showed that 6/9 children in the PPG and 7/11 in the CG had enlarged tonsils, resulting in more than 50% inter-tonsillary space reduction. Despite these findings, and no significant differences between the groups with respect to mouth/ nose breathing, nocturnal snoring was significantly less in the PPG than in the CG (P < 0.05), according to the parental questionnaire. After 4 years of palatal plate therapy, orofacial function had improved significantly in the 9 PPG children and specifically in terms of tongue position and lip activity. PMID:12635780

  3. 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

  4. Implantable Cardioverter‐Defibrillator Therapy in Patients With Ventricular Fibrillation out of Hospital Cardiac Arrest Secondary to Acute Coronary Syndrome

    PubMed Central

    Madhavan, Malini; Friedman, Paul A.; Lennon, Ryan J.; Prasad, Abhiram; White, Roger D.; Sriram, Chenni S.; Gulati, Rajiv; Gersh, Bernard J.

    2015-01-01

    Background Survivors of ventricular fibrillation out of hospital cardiac arrest (VF‐OHCA) due to a potentially reversible cause such as acute myocardial infarction (MI) or ischemia are considered to be at low risk of recurrent arrhythmia. Implantable cardioverter defibrillators (ICD) are not routinely recommended in such patients. However, the outcome of these patients in the era of rapid coronary revascularization and ICD therapy is not known. Methods and Results We examined the outcome of 114 consecutive survivors of VF OHCA due to acute MI or ischemia in Olmsted County, MN from 1990 to 2011. An ICD was implanted in 45/114 patients. ICD recipients had lower EF [median (IQR) 38 (26 to 54) versus 48 (35 to 58) %, P=0.04]. During a median (IQR) follow‐up of 9.9 (4.4 to 14.6) years, ICD implantation was associated with reduced cardiac mortality (HR 0.24 [0.07 to 0.88], P=0.031) and a trend towards reduced all‐cause mortality (HR 0.56 [0.30 to 1.02], P=0.059) after adjusting for the first principal component. One or more appropriate ICD therapies were delivered in 19/45, with half of the patients receiving therapy within 1 year. Patients with EF ≤35% at discharge continued to be at long‐term risk for ICD therapy compared with those with EF >35% who were at increased risk predominantly in the first 8 months. EF and revascularization were not significantly associated with ICD therapy in the multivariable analysis. Conclusions Patients with VF‐OHCA in the setting of acute MI or myocardial ischemia remain at high risk of recurrent ventricular arrhythmias, particularly if EF ≤35%. This suggests that ICD implantation may be reasonable if EF ≤35%. PMID:25713292

  5. Lifestyle intervention and anti-obesity therapies in the polycystic ovary syndrome: impact on metabolism and fertility.

    PubMed

    Panidis, Dimitrios; Tziomalos, Konstantinos; Papadakis, Efstathios; Vosnakis, Christos; Chatzis, Panagiotis; Katsikis, Ilias

    2013-12-01

    Obesity is frequently present in patients with polycystic ovary syndrome (PCOS) and plays an important role in the pathogenesis of the metabolic, endocrine, and reproductive abnormalities associated with this syndrome. We aimed to summarize the effects of lifestyle changes and anti-obesity pharmacotherapy in patients with PCOS. We reviewed the literature regarding the effects of lifestyle changes and anti-obesity agents on the metabolic and endocrine abnormalities of PCOS. Lifestyle changes, including diet, exercise, and behavioral modification, appear to improve the metabolic and reproductive abnormalities of overweight and obese patients with PCOS. Therefore, lifestyle changes appear to represent the first-line management for all overweight and obese patients with PCOS. However, the optimal composition of diet and the optimal type of exercise in these patients are unknown. Anti-obesity agents that have been studied in PCOS include orlistat, sibutramine, and rimonabant. However, the latter two agents have been withdrawn from the market because of side effects. Long-term studies with orlistat in overweight and obese diabetic patients showed greater weight loss and metabolic and cardiovascular benefits than those achieved with lifestyle changes alone. However, there are limited data on the efficacy of orlistat in women with PCOS. In conclusion, lifestyle changes (diet, exercise and behavioral modification), particularly when combined with anti-obesity agents, exert beneficial effects on the endocrine abnormalities of obese patients with PCOS and improve metabolic parameters. PMID:23625194

  6. 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 ...

  7. Syndromic Disorders with Short Stature

    PubMed Central

    Şıklar, Zeynep; Berberoğlu, 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

  8. Syndromic disorders with short stature.

    PubMed

    Şıklar, Zeynep; Berberoğlu, 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

  9. Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome.

    PubMed

    Di, Wei-Li; Mellerio, Jemima E; Bernadis, Catina; Harper, John; Abdul-Wahab, Alya; Ghani, Sumera; Martinez-Queipo, Magdalena; Hara, Havinder; McNicol, Anne-Marie; McGrath, John; Thrasher, Adrian J; Qasim, Waseem

    2013-10-18

    Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the gene SPINK5 (serine protease inhibitor Kazal type 5) which encodes for a serine protease inhibitor LEKTI (lymphoepithelial Kazal type-related inhibitor). Patients with NS have defective keratinization, hair shaft defects, recurrent infections, atopy and a predisposition to skin malignancies. Historically, one in ten infants has died before their first birthday. Currently there are no proven treatments to cure this condition. A SIN-lentiviral vector encoding the codon optimized SPINK5 gene under the control of a 572bp element derived from the human involucrin promoter (INVO) can confer compartment specific LEKTI expression in NS keratinocytes with restoration of normal skin architecture. Here we detail a study protocol for a phase I trial for feasibility and safety evaluations of autologous epidermal sheets generated from ex-vivo gene corrected keratinocyte stem cells, which will be grafted onto patients with mutation proven NS. PMID:24138501

  10. Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.

    PubMed

    Di, Wei-Li; Mellerio, Jemima E; Bernadis, Catina; Harper, John; Abdul-Wahab, Alya; Ghani, Sumera; Chan, Lucas; Martinez-Queipo, Magdalena; Hara, Havinder; McNicol, Anne-Marie; Farzaneh, Farzin; McGrath, John; Thrasher, Adrian; Qasim, Waseem

    2013-12-01

    Netherton syndrome (NS) is a serious inherited skin disorder caused by mutations in the serine protease inhibitor Kazal type 5 gene (SPINK5), which encodes for a serine protease inhibitor lymphoepithelial Kazal type-related inhibitor (LEKTI). Patients with NS have defective keratinization, hair shaft defects, recurrent infections, atopy, and a predisposition to skin malignancies. Historically, 1 in 10 infants has died before their first birthday. Currently, there are no proven treatments to cure this condition. A SIN-lentiviral vector encoding the codon-optimized SPINK5 gene under the control of a 572 bp element derived from the human involucrin promoter can confer compartment-specific LEKTI expression in NS keratinocytes with restoration of normal skin architecture. Here we detail a study protocol for a phase I trial for feasibility and safety evaluations of autologous epidermal sheets generated from ex vivo gene-corrected keratinocyte stem cells, which will be grafted onto patients with mutation-proven NS. PMID:24329107

  11. [Subacromial pain syndromes as a possible results of errors in the initial diagnosis and therapy of the shoulder joint].

    PubMed

    Hadziahmetović, Z

    1999-01-01

    The author in this paper shows possible diagnostic mistakes in the development of subacromial painful arc syndrome (cases with inadequate diagnostics). A hundred cases with acute shoulder's injury (without fractures and luxationes) who were admitted at the Clinic for bone surgery and Emergency Department of Clinical Centre, CUC Sarajevo in period between 1 January 1998-30 June 1998. Only clinical and X-ray examination in part were performed. A very interesting case with subacromial impingement as a consequence of such kind of treatment is presented in this paper. It can be concluded that it is necessary to use as a routine a comparative advantages of Echosonography, CT, MRI, as non invasive diagnostic methods at clinically suspected intra or extra articular lesions. PMID:10386045

  12. Stevens-Johnson syndrome. Description of an unusual clinical case due to glucocorticoid therapy for oral lichen planus.

    PubMed

    Femiano, F; Cozzolino, F; Belnome, G; De Luca, P

    1999-06-01

    Erythema multiforme (EM) is an acute inflammatory disease with an autoimmune pathogenesis clinically expressing in a wide variety of mucocutaneous illnesses. It is usually described in a minor form (Von Hebra) characterized by classical cutaneous lesions, and in major form (Stevens-Johnson), involving mucosal damage, while a clinical type restricted to the oral mucosa is described in oral pathology. A considerable number of factors of different nature have been reported as etiologic agents of EM, but most of them are not well documented; however, a certain relationship with EM is recognized for different classes of systemic drugs. This paper describes a case of Stevens-Johnson syndrome with initial oral involvement, in which the precipitating factor was due to the administration of systemic glucocorticoids, prescribed for the therapeutic treatment of an erosive form of oral lichen planus. PMID:10522397

  13. 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

  14. A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies

    PubMed Central

    Agrelo, Ruben; Sutz, Miguel Arocena; Setien, Fernando; Aldunate, Fabian; Esteller, Manel; Da Costa, Valeria; Achenbach, Ricardo

    2015-01-01

    Werner Syndrome (WS) is a rare inherited disease characterized by premature aging and increased propensity for cancer. Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form. WRN is a RecQ family member with both helicase and exonuclease activities, and it participates in several cell metabolic pathways, including DNA replication, DNA repair, and telomere maintenance. Here, we reported a novel homozygous WS mutation (c.3767 C > G) in 2 Argentinian brothers, which resulted in a stop codon and a truncated protein (p.S1256X). We also observed increased WRN promoter methylation in the cells of patients and decreased messenger WRN RNA (WRN mRNA) expression. Finally, we showed that the read-through of nonsense mutation pharmacologic treatment with both aminoglycosides (AGs) and ataluren (PTC-124) in these cells restores full-length protein expression and WRN functionality. PMID:25830902

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

    PubMed Central

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

    2015-01-01

    Superior mesenteric artery syndrome (SMAS) is defined as an obstruction of the third part of duodenum due to compression by the superior mesenteric artery. Although traumatic brain injury is a risk factor for SMAS, few cases of SMAS resulting from brain surgery have been reported. SMAS has been observed to occur following neurosurgical surgery in pediatric patients but, to the best of our knowledge, no such cases have been reported in adults. The present study reports the case of a 21-year-old female patient who developed SMAS after persistent vomiting and prolonged weight loss following cerebellar tumor resection and cranial irradiation. The SMAS was confirmed by computed tomography and resolved following successful nutritional management. PMID:26622529

  16. Closure of non-healing chronic ulcer in Klippel–Trenaunay syndrome using low-level laser therapy

    PubMed Central

    Dixit, Snehil; Maiya, Arun G; Umakanth, Shashikiran; Shastry, Barkur A

    2012-01-01

    A 69-year-old man diagnosed with Klippel–Trenaunay syndrome (KTS) reported to the physiotherapy outpatient clinic with the complaint of a non-healing ulcer over the right medial malleolus, for a 6-month duration, that was non-granulating and had moderate pus discharge with foul odour at initial assessment. There was a decrease in scores of the Pressure Ulcer Scale of Healing, a significant increase in granulation tissue, a decrease in the amount of discharge and foul odour along with complete closure of the chronic wound after irradiation with a light-emitting diode (LED). This is a novel case study analysing the possible effect of a helium–neon laser  and LEDs on non-healing chronic ulcers associated with KTS, where the complete closure of the chronic ulcer that was initially not responsive to standard medical care was observed. PMID:22707702

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

    PubMed Central

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

    2015-01-01

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

  18. 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. PMID:26893771

  19. 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

  20. Scheie syndrome

    MedlinePLUS

    ... as MPS I S. See also: MPS I H (Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) ... individuals with Scheie syndrome, and also Hurler and Hurler-Scheie syndromes. Early detection and treatment of spinal cord compression ...

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

    PubMed Central

    Arroll, Megan Anne; Howard, Alex

    2012-01-01

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

  2. 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

  3. 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

  4. 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

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

    PubMed

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

    2015-10-01

    Intravenous immunoglobulin (IVIg) has been proven most effective in treating Guillain-Barré syndrome (GBS). Corticosteroids as an add-on therapy have been prescribed in severe GBS cases. However, the efficacy of intravenous corticosteroids combined with IVIg in dealing with severe GBS remains unclear. We explored the therapeutic effects of different therapeutic regimens on the short-term prognosis of GBS patients, especially the severe cases.We retrospectively analyzed the clinical data of 527 adult patients with GBS who were prescribed to different treatments from 2003 to 2014. The therapeutic effect of a treatment was evaluated by the improvement of Hughes Functional Grading Scale (HFGS) and Medical Research Council (MRC) sum score.With comparable incidence of infectious complications (P > 0.05), more mechanically ventilated patients were found improvement after IVIg treatment than combination IVIg with intravenous corticosteroids (MRC: 97% vs. 72.4%, P < 0.05; HFGS: 97% vs. 72.4%, P < 0.05). As to bedridden patients without mechanical ventilation, incidence of infectious complications (P > 0.05) and ratio of patients who were improved after IVIg were insignificantly different from the combination therapy (MRC: 89.6% vs. 86.5%; HFGS: 69.6% vs. 61.5%; both P > 0.05), even if the intravenous corticosteroids were initiated within 7 days after onset (P > 0.05). In addition, supportive treatment was sufficient for patients who were able to walk with help (HFGS = 3) and mildly affected (HFGS < 3) when compared with IVIg and intravenous corticosteroids.IVIg is sufficient to GBS patients who are unable to walk (HFGS > 3), while corticosteroids are detrimental for short-term prognosis in mechanically ventilated patients when used in combination with IVIg. Further prospective and randomized studies are warranted to validate this finding. PMID:26512609

  6. 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

  7. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

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

  8. When is iron overload deleterious, and when and how should iron chelation therapy be administered in myelodysplastic syndromes?

    PubMed

    Steensma, David P; Gattermann, Norbert

    2013-12-01

    Iron overload in MDS starts even before patients become red-blood cell transfusion dependent, because disease-associated ineffective erythropoiesis suppresses hepcidin production in the liver and thus causes unrestrained iron absorption in the duodenum. However, the main cause of iron overload is regular transfusion therapy, which in MDS is associated with a risk of unclear magnitude for iron-related complications. Iron deposition in tissues can now be detected with non-invasive techniques such as T2* MRI. Iron toxicity in MDS may not only depend on the degree of tissue iron accumulation but also on the extent of chronic exposure to non-transferrin-bound iron (NTBI), including labile plasma iron (LPI) and intracellular labile iron pools, which increase the level of oxidative stress. Iron chelation therapy (ICT) can rapidly lower NTBI and LPI and more slowly mobilizes tissue iron stores. Further studies, including the ongoing TELESTO controlled trial, will more clearly define the role of ICT in MDS, including any effect on specific morbidities or mortality in the MDS setting. PMID:24507819

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

    PubMed

    Boucher, Pierre; Robidoux, Sébastien

    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

  10. 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

  11. Macrophage activation syndrome resistant to medical therapy in a patient with systemic lupus erythematosus and its remission with splenectomy.

    PubMed

    Kim, Ji Min; Kwok, Seung Ki; Ju, Ji Hyeon; Park, Kyung Su; Park, Gyeong Sin; Kim, Ho Youn; Park, Sung Hwan

    2013-03-01

    Macrophage activation syndrome (MAS) is a rare, but potentially life-threatening complication of systemic lupus erythematosus (SLE). A bone marrow biopsy often provides pathologic evidence of MAS, and MAS usually responds to corticosteroids alone or with the addition of cyclosporine A. We describe a case of MAS developing in a pregnant patient with SLE, who presented with fever and pancytopenia. Extensive investigations could not find the evidence of infection. Although intensive medical treatment was performed with a suspicion of MAS based on clinical grounds, no response was observed and bone marrow biopsy showed no evidence of hemophagocytosis. Positron emission tomography/computed tomography (PET/CT) suggested the possible cause of fever was in the spleen where fluorodeoxyglucose uptake was markedly increased. After splenectomy, the patient was improved and numerous hemophagocytic macrophages were proved in the splenic tissue. With this unique case, we would like to emphasize that bone marrow biopsy cannot always be relied on in making a diagnosis of MAS and PET/CT can provide helpful information in the diagnosis of MAS. PMID:21120496

  12. 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

  13. Ubiquitous high-level gene expression in hematopoietic lineages provides effective lentiviral gene therapy of murine Wiskott-Aldrich syndrome

    PubMed Central

    Astrakhan, Alexander; Sather, Blythe D.; Ryu, Byoung Y.; Khim, Socheath; Singh, Swati; Humblet-Baron, Stephanie; Ochs, Hans D.; Miao, Carol H.

    2012-01-01

    The immunodeficiency disorder Wiskott-Aldrich syndrome (WAS) leads to life-threatening hematopoietic cell dysfunction. We used WAS protein (WASp)–deficient mice to analyze the in vivo efficacy of lentiviral (LV) vectors using either a viral-derived promoter, MND, or the human proximal WAS promoter (WS1.6) for human WASp expression. Transplantation of stem cells transduced with MND-huWASp LV resulted in sustained, endogenous levels of WASp in all hematopoietic lineages, progressive selection for WASp+ T, natural killer T and B cells, rescue of T-cell proliferation and cytokine production, and substantial restoration of marginal zone (MZ) B cells. In contrast, WS1.6-huWASp LV recipients exhibited subendogenous WASp expression in all cell types with only partial selection of WASp+ T cells and limited correction in MZ B-cell numbers. In parallel, WS1.6-huWASp LV recipients exhibited an altered B-cell compartment, including higher numbers of λ-light-chain+ naive B cells, development of self-reactive CD11c+FAS+ B cells, and evidence for spontaneous germinal center (GC) responses. These observations correlated with B-cell hyperactivity and increased titers of immunoglobulin (Ig)G2c autoantibodies, suggesting that partial gene correction may predispose toward autoimmunity. Our findings identify the advantages and disadvantages associated with each vector and suggest further clinical development of the MND-huWASp LV for a future clinical trial for WAS. PMID:22431569

  14. Continuous positive airway pressure therapy reduces oxidative stress markers and blood pressure in sleep apnea-hypopnea syndrome patients.

    PubMed

    Murri, Mora; García-Delgado, Regina; Alcázar-Ramírez, José; Fernández de Rota, Luis; Fernández-Ramos, Ana; Cardona, Fernando; Tinahones, Francisco J

    2011-12-01

    Sleep apnea-hypopnea syndrome (SAHS) is characterized by recurrent episodes of hypoxia/reoxygenation, which seems to promote oxidative stress. SAHS patients experience increases in hypertension, obesity and insulin resistance (IR). The purpose was to evaluate in SAHS patients the effects of 1 month of treatment with continuous positive airway pressure (CPAP) on oxidative stress and the association between oxidative stress and insulin resistance and blood pressure (BP). Twenty-six SAHS patients requiring CPAP were enrolled. Measurements were recorded before and 1 month after treatment. Cellular oxidative stress parameters were notably decreased after CPAP. Intracellular glutathione and mitochondrial membrane potential increased significantly. Also, total antioxidant capacity and most of the plasma antioxidant activities increased significantly. Significant decreases were seen in BP. Negative correlations were observed between SAHS severity and markers of protection against oxidative stress. BP correlated with oxidative stress markers. In conclusion, we observed an obvious improvement in oxidative stress and found that it was accompanied by an evident decrease in BP with no modification in IR. Consequently, we believe that the decrease in oxidative stress after 1 month of CPAP treatment in these patients is not contributing much to IR genesis, though it could be related to the hypertension etiology. PMID:21286851

  15. 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.

  16. Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11).

    PubMed

    Imamura, Toshihiko; Kakazu, Naoki; Hibi, Shigeyoshi; Morimoto, Akira; Fukushima, Yoko; Ijuin, Ikuko; Hada, Satoshi; Kitabayashi, Issei; Abe, Tatsuo; Imashuku, Shinsaku

    2003-04-01

    In this study, we examined a pediatric case of therapy-related myelodysplastic syndrome (tMDS). The symptoms developed 17 months after treatment for acute myeloblastic leukemia (AML, M2 subtype according to the French-American-British [FAB] classification) involving a chromosome abnormality at t(8;21)(q22;q22). Upon diagnosis of tMDS, spectral karyotyping analysis detected a new chromosomal translocation at t(2;8)(p23;p11.2). In addition, fluorescence in situ hybridization analysis suggested a rearrangement in the monocytic leukemia zinc finger (MOZ) gene, located in the 8p11 region of chromosome 8. However, no partner gene on 2p23 could be identified. To our knowledge, this is the first report of tMDS associated with a rearrangement of the MOZ gene. MOZ-linked fusion proteins such as MOZ-CBP (CREB binding protein), MOZ-TIF2 (transcriptional intermediary factor 2), and MOZ-p300 (adenoviral E1A-associated protein) are associated with AML chromosomal abnormalities at t(8;16)(p11;p13), inv(8)(p11q13), and t(8;22)(p11;q13), respectively, and are thought to account for leukemogenesis occurring through the aberrant regulation of histone acetylation. Through a similar mechanism, we believe that MOZ, fused to an unidentified partner gene at 2p23, may have caused an alteration in histone acetylation, resulting in the development of tMDS in this patient. PMID:12619166

  17. Cognitive-behaviour therapy for chronic fatigue syndrome: comparison of outcomes within and outside the confines of a randomised controlled trial.

    PubMed

    Quarmby, Louise; Rimes, Katharine A; Deale, Alicia; Wessely, Simon; Chalder, Trudie

    2007-06-01

    Outcomes for cognitive-behaviour therapy (CBT) in randomised controlled trials (RCTs) have rarely been compared to those in routine clinical practice. Taking the case of CBT for chronic fatigue syndrome (CFS), we evaluated the results of a successful RCT against those of the same treatment given in the same setting as part of routine practice. Fatigue and social adjustment scores were compared for patients who received CBT for CFS as part of a RCT (N=30) and patients who received CBT as part of everyday clinical practice (N=384). The results in the RCT were superior to those in routine clinical practice. Between pre-treatment and 6-month follow-up, the RCT showed a larger reduction in fatigue and greater improvement in social adjustment than those in routine treatment. The changes in fatigue scores were similar for both groups during treatment but were greater in the RCT between post-treatment and follow-up. Potential reasons for the superior results of the RCT include patient selection, therapist factors and the use of a manualised treatment protocol. Practitioners need to pay particular attention to relapse prevention and ensuring adequate follow-up in addition to encouraging patients to continue with cognitive-behavioural strategies once treatment has ended. PMID:17074300

  18. A Pilot Trial of Cognitive-Behavioral Therapy Augmentation of Antibiotic Treatment in Youth with Pediatric Acute-Onset Neuropsychiatric Syndrome-Related Obsessive-Compulsive Disorder

    PubMed Central

    Jordan, Cary; Selles, Robert R.; Wu, Monica S.; King, Morgan A.; Patel, Priyal D.; Hanks, Camille E.; Arnold, Elysse B.; Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.

    2015-01-01

    Abstract Background: This study reports an open trial of family-based cognitive-behavioral therapy (CBT) in children and adolescents with obsessive-compulsive disorder (OCD) exhibiting an onset pattern consistent with pediatric acute-onset neuropsychiatric syndrome (PANS). Methods: Eleven primarily Caucasian youth with PANS-related OCD (range=4–14 years; 6 boys) who were incomplete responders to antibiotic treatment, received family-based CBT delivered either face-to-face or via web camera. Results: All participants completing treatment (8 of 8) were considered improved at posttreatment, and average obsessive-compulsive symptom severity was reduced by 49%. Significant reductions in obsessive-compulsive symptom severity and in clinician- and parent-rated OCD-related impairment were noted. Reductions in parent- and child-rated anxiety, child-rated OCD-related impairment, and comorbid neuropsychiatric symptoms were not statistically significant. Conclusions: Gains were maintained at follow-up, with 100% (6 of 6) of those assessed remaining improved. Implications for treatment and further research are discussed. PMID:25978743

  19. Aging Increases Susceptibility to High Fat Diet-Induced Metabolic Syndrome in C57BL/6 Mice: Improvement in Glycemic and Lipid Profile after Antioxidant Therapy

    PubMed Central

    Nunes-Souza, Valéria; César-Gomes, Cheila Juliana; Da Fonseca, Lucas José Sá; Guedes, Glaucevane Da Silva; Smaniotto, Salete; Rabelo, Luíza Antas

    2016-01-01

    Nonalcoholic fatty liver disease (NAFLD) has been considered a novel component of the metabolic syndrome (MetS), with the oxidative stress participating in its progression. This study aimed to evaluate the metabolic profile in young and old mice with MetS, and the effects of apocynin and tempol on glycemic and lipid parameters. Young and old C57BL/6 mice with high fat diet- (HFD-) induced MetS received apocynin and tempol 50 mg·kg−1/day in their drinking water for 10 weeks. After HFD, the young group showed elevated fasting glucose, worsened lipid profile in plasma, steatosis, and hepatic lipid peroxidation. Nevertheless, the old group presented significant increase in fasting insulin levels, insulin resistance, plasma and hepatic lipid peroxidation, and pronounced steatosis. The hepatic superoxide dismutase and catalase activity did not differ between the groups. Tempol and apocynin seemed to prevent hepatic lipid deposition in both groups. Furthermore, apocynin improved glucose tolerance and insulin sensitivity in old mice. In summary, old mice are more susceptible to HFD-induced metabolic changes than their young counterparts. Also, the antioxidant therapy improved insulin sensitivity and glucose tolerance, and in addition, apocynin seemed to prevent the HFD-induced hepatic fat deposition, suggesting an important role of oxidative stress in the induction of NAFLD. PMID:27057272

  20. 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

  1. Effects of PPARγ 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 PPARγ and RBP4 are known to regulate lipid and glucose metabolism and insulin resistance. The influences of PPARγ (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 PPARγ, 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 PPARγ, 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 PPARγ 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

  2. Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial

    PubMed Central

    2014-01-01

    Background Relapses of childhood steroid-sensitive nephrotic syndrome (SSNS) are treated with a 4- to 8-week course of high-dose oral prednisolone, which may be associated with significant adverse effects. There is a clear association between upper respiratory tract infection (URTI) and relapse development. Previous studies in developing nations have suggested that introducing a 5- to 7-day course of daily prednisolone during an URTI may prevent a relapse developing and the need for a treatment course of high-dose prednisolone. The aim of PREDNOS 2 is to evaluate the effectiveness of a 6-day course of daily prednisolone therapy during an URTI in reducing the development of a subsequent relapse in a developed nation. Methods/design The subjects will be 300 children with relapsing SSNS (≥2 relapses in preceding year), who will be randomised to receive either a 6-day course of daily prednisolone or no change to their current therapy (with the use of placebo to double blind) each time they develop an URTI over 12 months. A strict definition for URTI will be used. Subjects will be reviewed at 3, 6, 9 and 12 months to capture data regarding relapse history, ongoing therapy and adverse effect profile, including behavioural problems and quality of life. A formal health economic analysis will also be performed. The primary end point of the study will be the incidence of URTI-related relapse (3 days of Albustix +++) following the first infection during the 12-month follow-up period. DNA and RNA samples will be collected to identify a potential genetic cause for the disease. Subjects will be recruited from over 100 UK centres with the assistance of the Medicines for Children Research Network. PREDNOS 2 is funded by the National Institute for Health Research Health Technology Assessment Programme (11/129/261). Discussion We propose that PREDNOS 2 will be a pivotal study that will inform the future standard of care for children with SSNS. If it is possible to reduce the disease relapse rate effectively and safely, this will reduce the morbidity and cost associated with drug treatment, notwithstanding hospital admission and parental absence from employment. Trial registration Current Controlled Trials (ISRCTN10900733). PMID:24767719

  3. Effect of Continuous Positive Airway Pressure Therapy on Glycemic Excursions and Insulin Sensitivity in Patients with Obstructive Sleep Apnea-hypopnea Syndrome and Type 2 Diabetes

    PubMed Central

    Guo, Li-Xin; Zhao, Xin; Pan, Qi; Sun, Xue; Li, Hui; Wang, Xiao-Xia; Zhang, Li-Na; Wang, Yao

    2015-01-01

    Background: For patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) and type 2 diabetes mellitus (T2DM), the night sleep interruption and intermittent hypoxia due to apnea or hypopnea may induce glycemic excursions and reduce insulin sensitivity. This study aimed to investigate the effect of continuous positive airway pressure (CPAP) therapy in patients with OSAHS and T2DM. Methods: Continuous glucose monitoring system (CGMS) was used in 40 patients with T2DM and newly diagnosed OSAHS. The measurements were repeated after 30 days of CPAP treatment. Subsequently, insulin sensitivity and glycohemoglobin (HbA1c) were measured and compared to the pretreatment data. Results: After CPAP therapy, the CGMS indicators showed that the 24-h mean blood glucose (MBG) and the night time MBG were significantly reduced (P < 0.05 and P = 0.03, respectively). The mean ambulatory glucose excursions (MAGEs) and the mean of daily differences were also significantly reduced (P < 0.05 and P = 0.002, respectively) compared to pretreatment levels. During the night, MAGE also significantly decreased (P = 0.049). The differences between the highest and lowest levels of blood glucose over 24 h and during the night were significantly lower than prior to CPAP treatment (P < 0.05 and P = 0.024, respectively). The 24 h and night time durations of high blood glucose (>7.8 mmol/L and > 11.1 mmol/L) decreased (P < 0.05 and P < 0.05, respectively) after the treatment. In addition, HbA1c levels were also lower than those before treatment (P < 0.05), and the homeostasis model assessment index of insulin resistance was also significantly lower than before CPAP treatment (P = 0.034). Conclusions: CPAP therapy may have a beneficial effect on improving not only blood glucose but also upon insulin sensitivity in T2DM patients with OSAHS. This suggests that CPAP may be an effective treatment for T2DM in addition to intensive diabetes management. PMID:26315076

  4. A randomized pilot study to assess the safety and the value of low-level laser therapy versus clonazepam in patients with burning mouth syndrome.

    PubMed

    Arduino, Paolo G; Cafaro, Adriana; Garrone, Marco; Gambino, Alessio; Cabras, Marco; Romagnoli, Ercole; Broccoletti, Roberto

    2016-05-01

    Comparison between low-level laser therapy (LLLT) and clonazepam for treating burning mouth syndrome (BMS) patients has never been documented; the aim of this study was to assess the effects of LLLT photobiomodulation versus medical therapy with clonazepam on BMS. Thirty-three patients (25 female, 8 male, mean age = 67.12) were randomly allocated to two different groups: the first one (group A, 18 patients) underwent two laser irradiation sessions weekly for 5 weeks, whereas the second one (group B, 15 patients) received topical clonazepam therapy [half a tablet (2 mg) in the mouth without swallowing for 3 min, three times a day for 21 days]. LLLT was delivered with a continuous wave 980-nm aluminum gallium arsenide (AlGaAs) diode laser and the output of 300 mW, delivering a Fluence of 10 J/cm(2), using a "spot technique," with an average power density of about 1 W/cm(2). The laser probe was held perpendicularly at a distance of about 2 mm from the mucosa. Visual analogue scale (VAS), McGill Pain Questionnaire, present pain intensity (PPI), and Oral Health Impact Profile (OHIP-49) assessed sensation of pain. Hospital Anxiety and Depression Scale and Geriatric Depression Scale assessed levels of anxiety and depression. Twelve weeks after the end of treatment, patients treated with LLLT experienced a decrease in pain sensation reported for all the parameters analyzed: VAS (P = 0.004), McGill Pain Questionnaire (P = 0.002), PPI (P = 0.002), and OHIP-49 (P = 0.010). The group treated with clonazepam had less favorable results for VAS (P = 0.33), McGill Pain Questionnaire (P = 0.005), PPI (P = 0.013), and OHIP-49 (P = 0.25). Levels of anxiety and depression did not change statistically in any groups (P > 0.05). Comparing the two groups, LLLT appeared to be superior in improving pain perception, but statistically only at 8 weeks after the end of the protocol proposed (P = 0.026). Based on this preliminary trial, LLLT is capable of reducing the symptoms of patients with BMS with a constant and long-lasting effect, experienced since the end of the first applications. PMID:26873501

  5. 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.

  6. 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

  7. Health economic analysis of ticagrelor in patients with acute coronary syndromes intended for non-invasive therapy

    PubMed Central

    Janzon, M; James, S; Cannon, C P; Storey, R F; Mellström, C; Nicolau, J C; Wallentin, L; Henriksson, M

    2015-01-01

    Objective To investigate the cost effectiveness of ticagrelor versus clopidogrel in patients with acute coronary syndromes (ACS) in the Platelet Inhibition and Patient Outcomes (PLATO) study who were scheduled for non-invasive management. Methods A previously developed cost effectiveness model was used to estimate long-term costs and outcomes for patients scheduled for non-invasive management. Healthcare costs, event rates and health-related quality of life under treatment with either ticagrelor or clopidogrel over 12 months were estimated from the PLATO study. Long-term costs and health outcomes were estimated based on data from PLATO and published literature sources. To investigate the importance of different healthcare cost structures and life expectancy for the results, the analysis was carried out from the perspectives of the Swedish, UK, German and Brazilian public healthcare systems. Results Ticagrelor was associated with lifetime quality-adjusted life-year (QALY) gains of 0.17 in Sweden, 0.16 in the UK, 0.17 in Germany and 0.13 in Brazil compared with generic clopidogrel, with increased healthcare costs of €467, €551, €739 and €574, respectively. The cost per QALY gained with ticagrelor was €2747, €3395, €4419 and €4471 from a Swedish, UK, German and Brazilian public healthcare system perspective, respectively. Probabilistic sensitivity analyses indicated that the cost per QALY gained with ticagrelor was below conventional threshold values of cost effectiveness with a high probability. Conclusions Treatment of patients with ACS scheduled for 12 months’ non-invasive management with ticagrelor is associated with a cost per QALY gained below conventional threshold values of cost effectiveness compared with generic clopidogrel. Trial registration number NCT000391872. PMID:25227704

  8. Dimorphic effects of TGFβ signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome

    PubMed Central

    Cook, Jason R.; Clayton, Nicholas P.; Carta, Luca; Galatioto, Josephine; Chiu, Emily; Smaldone, Silvia; Nelson, Carol A.; Cheng, Seng H.; Wentworth, Bruce M.; Ramirez, Francesco

    2015-01-01

    Objective Studies of mice with mild Marfan syndrome (MFS) have correlated the development of thoracic aortic aneurysm (TAA) with improper stimulation of non-canonical (Erk-mediated) TGFβ signaling by the angiotensin type I receptor (AT1r). This correlation was largely based on comparable TAA modifications by either systemic TGFβ neutralization or AT1r antagonism. However, subsequent investigations have called into question some key aspects of this mechanism of arterial disease in MFS. To resolve these controversial points, here we made a head-to-head comparison of the therapeutic benefits of TGFβ neutralization and AT1r antagonism in mice with progressively severe MFS (Fbn1mgR/mgR mice). Approach and Results Aneurysm growth, media degeneration, aortic levels of phosphorylated Erk and Smad proteins and the average survival of Fbn1mgR/mgR mice were compared after a ∼3 month long treatment with placebo and either the AT1r antagonist losartan or the TGFβ neutralizing antibody 1D11. In contrast to the beneficial effect of losartan, TGFβ neutralization either exacerbated or mitigated TAA formation depending on whether treatment was initiated before (post-natal day 16; P16) or after (P45) aneurysm formation, respectively. Biochemical evidence related aneurysm growth with Erk-mediated AT1r signaling, and medial degeneration with TGFβ hyperactivity that was in part AT1r-dependent. Importantly, P16-initiated treatment with losartan combined with P45-initiated administration of 1D11 prevented death of Fbn1mgR/mgR mice from ruptured TAA. Conclusions By demonstrating that promiscuous AT1r and TGFβ drive partially overlapping processes of arterial disease in MFS mice, our study argues for a therapeutic strategy against TAA that targets both signaling pathways while sparing the early protective role of TGFβ. PMID:25614286

  9. 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

  10. 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

  11. 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

  12. ?-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

  13. Surfactant therapy and antibiotics in neonates with meconium aspiration syndrome: a systematic review and meta-analysis.

    PubMed

    Natarajan, C K; Sankar, M J; Jain, K; Agarwal, R; Paul, V K

    2016-05-01

    Meconium aspiration syndrome (MAS), a common cause of respiratory failure in neonates, is associated with high mortality and morbidity. The objectives of this review were to evaluate the effects of administration of (a) surfactant-either as lung lavage (SLL) or bolus surfactant (BS) and (b) antibiotics on mortality and severe morbidities in neonates with MAS. We searched the following databases: MEDLINE via PubMed, Cochrane CENTRAL, WHOLIS and CABI using sensitive search strategies. We included eight studies on use of surfactant and three studies on use of antibiotics. Neither SLL nor BS reduced the risk of mortality in neonates with MAS (relative risk (RR) 0.38, 95% confidence interval (CI) 0.09 to 1.57; and RR 0.80, 95% CI 0.39 to 1.66, respectively). Both SLL and BS reduced the duration of hospital stay (mean difference -2.0, 95% CI -3.66 to -0.34; and RR -4.68, 95% CI -7.11 to -2.24 days, respectively) and duration of mechanical ventilation (mean difference -1.31, 95% CI -1.91 to -0.72; and mean difference 5.4, 95% CI -9.76 to -1.03 days). Neonates who received BS needed extracorporeal membrane oxygenation (ECMO) less often than the controls (RR 0.64, 95% CI 0.46 to 0.91). Use of antibiotics for MAS did not result in significant reduction in the risk of mortality, sepsis or duration of hospital stay. Surfactant administration either as SLL or BS for MAS was found to reduce the duration of mechanical ventilation and hospital stay; BS also reduced the need for ECMO. Administration of antibiotics did not show any significant clinical benefits in neonates with MAS and no evidence of sepsis. Given the limited number of studies and small number of neonates enrolled, there is an urgent need to generate more evidence on the efficacy and cost-effectiveness of these two treatment modalities before recommending them in routine clinical practice. PMID:27109092

  14. Surfactant therapy and antibiotics in neonates with meconium aspiration syndrome: a systematic review and meta-analysis

    PubMed Central

    Natarajan, C K; Sankar, M J; Jain, K; Agarwal, R; Paul, V K

    2016-01-01

    Meconium aspiration syndrome (MAS), a common cause of respiratory failure in neonates, is associated with high mortality and morbidity. The objectives of this review were to evaluate the effects of administration of (a) surfactant—either as lung lavage (SLL) or bolus surfactant (BS) and (b) antibiotics on mortality and severe morbidities in neonates with MAS. We searched the following databases: MEDLINE via PubMed, Cochrane CENTRAL, WHOLIS and CABI using sensitive search strategies. We included eight studies on use of surfactant and three studies on use of antibiotics. Neither SLL nor BS reduced the risk of mortality in neonates with MAS (relative risk (RR) 0.38, 95% confidence interval (CI) 0.09 to 1.57; and RR 0.80, 95% CI 0.39 to 1.66, respectively). Both SLL and BS reduced the duration of hospital stay (mean difference −2.0, 95% CI −3.66 to −0.34; and RR −4.68, 95% CI −7.11 to −2.24 days, respectively) and duration of mechanical ventilation (mean difference −1.31, 95% CI −1.91 to −0.72; and mean difference 5.4, 95% CI −9.76 to −1.03 days). Neonates who received BS needed extracorporeal membrane oxygenation (ECMO) less often than the controls (RR 0.64, 95% CI 0.46 to 0.91). Use of antibiotics for MAS did not result in significant reduction in the risk of mortality, sepsis or duration of hospital stay. Surfactant administration either as SLL or BS for MAS was found to reduce the duration of mechanical ventilation and hospital stay; BS also reduced the need for ECMO. Administration of antibiotics did not show any significant clinical benefits in neonates with MAS and no evidence of sepsis. Given the limited number of studies and small number of neonates enrolled, there is an urgent need to generate more evidence on the efficacy and cost-effectiveness of these two treatment modalities before recommending them in routine clinical practice. PMID:27109092

  15. 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

  16. 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

  17. Experience with growth hormone therapy in Turner syndrome in a single centre: low total height gain, no further gains after puberty onset and unchanged body proportions.

    PubMed

    Schweizer, R; Ranke, M B; Binder, G; Herdach, F; Zapadlo, M; Grauer, M L; Schwarze, C P; Wollmann, H A

    2000-01-01

    The experience gained since 1987, through observation of 85 girls with Turner syndrome under growth hormone (GH) treatment, has enabled the analysis of one of the largest cohorts. Our results show that age, karyotype and height reflect the heterogeneity of the patients examined at our growth centre. In 47 girls, followed over 4 years on GH (median dose 0.72 IU/kg/week), the median age was 9.4 years and mean height SDS was -3.55 (Prader) and -0.14 (Turner-specific), while height and other anthropometrical parameters [weight, body mass index, sitting height (SH), leg length (LL) SH/LL, head circumference, arm span] were documented and compared to normative data as well as to Turner-specific references established on the basis of a larger (n = 165) untreated cohort from Tübingen. The latter data are also documented in this article. Although there was a trend towards normalization of these parameters during the observation period, no inherent alterations in the Turner-specific anthropometric pattern occurred. In 42 girls who started GH treatment at a median age of 11.8 years, final height (bone age >15 years) was achieved at 16.7 years. The overall gain in height SDS (Turner) from start to end of GH therapy was 0.7 (+/- 0.8) SD, but 0.9 (+/- 0.6) SD from GH start to onset of puberty (spontaneous 12.2 years, induced 13.9 years) and -0.2 (+/- 0.8) from onset of puberty to end of growth. Height gain did not occur in 12 patients (29%) and a gain of > 5 cm was only observed in 16 patients (38%). Height gain correlated positively with age at puberty onset, duration, and dose of GH, and negatively with height and bone age at the time GH treatment started. Final height correlated positively with height SDS at GH start and negatively with the ratio of SH/LL (SDS). We conclude that, in the future, GH should be given at higher doses, but oestrogen substitution should be done cautiously, owing to its potentially harmful effect on growth. LL appears to determine height variation in Turner syndrome and the potential to treat short stature successfully with GH. PMID:11150884

  18. 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

  19. Short Communication: Do Cytomegalovirus Antibody Levels Associate with Age-Related Syndromes in HIV Patients Stable on Antiretroviral Therapy?

    PubMed

    Brunt, Samantha J; Cysique, Lucette A; Lee, Silvia; Burrows, Sally; Brew, Bruce J; Price, Patricia

    2016-06-01

    HIV(+) persons stable on antiretroviral therapy (ART) face early onset of age-related diseases. This may arise from a high burden of cytomegalovirus (CMV). To address the role of CMV, we investigated univariate and multivariate associations between markers of systemic and endothelial inflammation, vascular damage, insulin resistance (IR), neurocognitive decline, and antibodies reactive with CMV. In this study, HIV(+) participants (n = 91) aged >45 years with <50 copies HIV RNA/ml plasma after >2 years on ART were assessed for cardiovascular risk (the D:A:D algorithm), type II diabetes (the HOMA-IR index), and neurocognitive performance. Blood samples were assayed for lipids, T cells, insulin, glucose, C-reactive protein, CX3CL1, sTNF-R1, total immunoglobulin G (IgG), and antibodies reactive with CMV lysate, glycoprotein B, or immediate-early-1. Levels of antibodies detected with the three antigens were tightly correlated. Levels of CMV lysate antibody were higher in patients than in age-matched healthy controls and reflected their nadir CD4 T-cell count (p = .001), total IgG (p = .02), and age (p = .08). Levels of CMV lysate antibody correlated with D:A:D score (p = .04), neurocognitive performance (p = .045), and fasting insulin (p = .02). In multivariable analyses, some associations reflected the effect of age, but CMV lysate antibody and CD8 T-cell counts were significant predictors of the HOMA-IR index (R(2) = 0.09, p = .01) independent of age. We conclude that associations between levels of CMV antibodies, cardiovascular risk, and neurocognitive health in HIV(+) patients stable on ART are moderated by age-associated increases in response to CMV, while CMV antibodies may be independently linked with IR. PMID:26876416

  20. 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