Sample records for syndrome therapie cellulaire

  1. Advancing drug therapy of the metabolic syndrome

    E-print Network

    Cai, Long

    Advancing drug therapy of the metabolic syndrome The metabolic syndrome -- a group of factors standards will also play an important part in advancing the therapy of the metabolic syndrome beyond,1419 (2003). 3. Grundy, S. M. Drug therapy of the metabolic syndrome: minimizing the emerging crisis

  2. Speech & Language Therapy for Children and Adolescents with Down Syndrome

    MedlinePLUS

    ... Syndrome Speech & Language Therapy for Children & Adolescents with Down Syndrome Children with Down syndrome have strengths and challenges ... the Language Characteristics of Children and Adolescents with Down Syndrome? Research and clinical experience demonstrate that some areas ...

  3. Music therapy for children with Rett syndrome

    Microsoft Academic Search

    Akihiro Yasuhara; Yuriko Sugiyama

    2001-01-01

    The Rett syndrome is good reactivity for sound and music. We enforced active music therapy (MT) individual session to patients with Rett syndrome. The patients were 4, 5 and 6-year-old. The active music therapy and individual session of 30 min\\/week were performed. It was recorded in video and description, and using the original evaluation list, six items of fact. On

  4. [Differentiated antiplatelet therapy for acute coronary syndromes].

    PubMed

    Schäfer, A; Arntz, H R; Boudriot, E; Garlichs, C; Hoffmann, S; Ince, H; Klingenheben, T; Weil, J; Zugck, C; Helms, T M; Silber, S

    2014-01-01

    Dual antiplatelet therapy is the cornerstone of maintenance medication following invasive treatment of patients with acute coronary syndromes (ST elevation myocardial infarction, non-ST elevation myocardial infarction, unstable angina). Over the last decade, P2Y12 inhibition in addition to low-dose acetylsalicylic acid has been intensively debated. The debate was enriched by the results of the large phase III clinical trials for prasugrel (TRITON) and ticagrelor (PLATO) compared to clopidogrel in patients with acute coronary syndromes. This article summarizes the critical details und subanalyses of both study programmes and highlights on clinical decision making when using the three P2Y12 blockers in acute coronary syndromes. A special focus is on higher risk patients such as those with ST elevation myocardial infarction and those with coexisting diabetes, but also on minimizing relevant bleedings, which are common during more intense platelet inhibition. PMID:24430955

  5. High dose methylprednisolone therapy in nephrotic syndrome

    Microsoft Academic Search

    Hilal Mocan; Erol Erduran; Gülay Karagüzel

    1999-01-01

    This study was done to determine the efficacy of oral high dose methylprednisolone (HDMP) therapy in the treatment of childhood\\u000a nephrotic syndrome (NS). Fifteen patients were enrolled in the study. Patients were arbitrarily divided into two groups. Group\\u000a I received prednisolone (daily 60 mg\\/m2 for 4 weeks, 45, 30, 20, 10, 5 mg\\/m2 on alternate days for 4 weeks) and

  6. Myelodyspoietic syndrome associated with diethylstilbestrol therapy.

    PubMed

    Anderson, A L; Lynch, E C

    1980-07-01

    We describe a patient with a myelodysplastic syndrome characterized by pancytopenia and an excess of myeloblasts in the bone marrow. He had received massive doses of diethylstilbestrol (150 mg daily) for seven years as therapy for prostatic carcinoma. Although myelodyspoiesis has been associated with other drugs, a relationship to estrogen therapy in man has not been reported previously. However, the administration of estrogens to animals has produced pancytopenia with a relative monocytosis and vacuolization of leukocytes. Examination of bone marroa, erythroid hypoplasia, and, with prolonged therapy, aplastic anemia. Further animal studies have demonstrated that estrogens exert a suppressive effect on marrow stem cells and granuloid progenitor cells. These experimental observations suggest a possible role of estrogens in the genesis of the hematologic changes we observed. PMID:7387307

  7. 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

  8. Evaluation and therapy of polycystic ovarian syndrome.

    PubMed

    Loy, R; Seibel, M M

    1988-12-01

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

  9. Glutamatergic modulatory therapy for Tourette syndrome.

    PubMed

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

    2010-05-01

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

  10. Jellyfish envenoming syndromes: unknown toxic mechanisms and unproven therapies.

    PubMed

    Bailey, Paul M; Little, Mark; Jelinek, George A; Wilce, Jacqueline A

    2003-01-01

    Interest in envenoming syndromes caused by Australian jellyfish has been intense since the deaths in early 2002 of two tourists in Queensland, attributed to the Irukandji syndrome. We review current knowledge of these envenoming syndromes, mechanisms of venom action and therapy, focusing on the deadly box jellyfish, Chironex fleckeri, and the array of jellyfish thought to cause the Irukandji syndrome. Current understanding of jellyfish venom activity is very limited, and many treatments are unproven and based on anecdote. PMID:12492389

  11. 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

  12. Irritable Bowel Syndrome: Yoga as Remedial Therapy.

    PubMed

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

    2015-01-01

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

  13. Rifaximin Therapy of Irritable Bowel Syndrome

    PubMed Central

    Koo, Hoonmo L.; Sabounchi, Saman; Huang, David B.; DuPont, Herbert L.

    2012-01-01

    Irritable bowel syndrome (IBS) is a common gastrointestinal disorder characterized by abdominal pain and altered bowel habits in the absence of specific organic pathology. Although the underlying pathogenesis of IBS is not well-understood, small intestinal bacterial overgrowth (SIBO) or other abnormalities in the gut flora is believed to contribute to the development of a subset of IBS cases. Rifaximin is a poorly absorbed antimicrobial with activity against enteric pathogens. A number of studies have shown a significant improvement in IBS symptoms with antibiotic therapy including rifaximin. In this review, we discuss the pharmacokinetics, in vitro susceptibility profile, and efficacy and safety data from clinical trials of rifaximin treatment of IBS. PMID:24833932

  14. Cognitive behaviour therapy in chronic fatigue syndrome.

    PubMed Central

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

    1991-01-01

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

  15. [Individualized management and therapy of myelodysplastic syndromes].

    PubMed

    Stauder, Reinhard; Wimazal, Friedrich; Nösslinger, Thomas; Krieger, Otto; Sperr, Wolfgang R; Sill, Heinz; Pfeilstöcker, Michael; Valent, Peter

    2008-01-01

    Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis and a tendency to transition to acute myeloid leukemia. Due to the increasing number of older patients in Austria and the high frequency of therapy-associated MDS following successful chemo- and/or radiotherapy of a primary tumor, the frequency and relevance of MDS are continuously increasing. While therapeutic options were until recently limited to best supportive care, AML-like induction chemotherapy and hematopoietic stem cell transplantation (HSCT) in younger patients, in recent years new therapeutic options have become available. Supportive care was improved through the introduction of effective iron chelation and the availability of hematopoietic growth factors like erythropoiesis-stimulating factors (ESF) and granulocyte colony-stimulating factors (G-CSF). In addition, immune-modulating drugs (IMiDs) like lenalidomide or epigenetically effective agents like the cytosine analogues or histone deacetylase (HDAC) inhibitors have become available and are highly effective in distinct subgroups of MDS patients. The development of state-of-the art recommendations is one of the major aims of the MDS Platform of the Austrian Society of Hematology and Oncology. This manuscript reviews recent developments in clinical scoring and targeted and individualized MDS therapy and discusses their relevance in and potential applicability to daily practice. PMID:18988005

  16. [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

  17. Carpal tunnel syndrome symptoms are lessened following massage therapy

    Microsoft Academic Search

    Tiffany Field; Miguel Diego; Christy Cullen; Kristin Hartshorn; Alan Gruskin; Maria Hernandez-Reif; William Sunshine

    2004-01-01

    Objective. To determine the effectiveness of massage therapy for relieving the symptoms of carpal tunnel syndrome (CTS).Methods. Sixteen adults with CTS symptoms were randomized to a 4-week massage therapy or control group. Participants in the massage therapy group were taught a self-massage routine that was done daily at home. They were also massaged once a week by a therapist. The

  18. Bortezomib therapy for nephrotic syndrome due to idiopathic membranous nephropathy.

    PubMed

    Hartono, Choli; Chung, Miriam; Kuo, Sheng F; Seshan, Surya V; Muthukumar, Thangamani

    2014-02-01

    Idiopathic membranous nephropathy is a common cause of nephrotic syndrome in adults. The nephrotic syndrome due to idiopathic membranous nephropathy is often resistant to glucocorticosteroids and requires an alkylating agent such as chlorambucil or cyclophosphamide to induce remission. Recent studies illustrate that antibodies against the autoantigen M-type phospholipase A2 receptor contribute to a vast majority but not all cases of idiopathic membranous nephropathy. Herein, we report a patient with nephrotic syndrome due to membranous nephropathy that was resistant to 6 months of therapy with ramipril and high-dose glucocorticosteroids but responded to a single cycle of bortezomib infusion. PMID:24430762

  19. [Withdrawal syndrome following beta blocker therapy (author's transl)].

    PubMed

    Hausen, T

    1981-10-16

    An account is given of two cases of withdrawal syndrome following discontinuation of an antihypertensive treatment with a single daily dose of Teneretic mite (atenolol/chlortalidone). In one case two different beta blockers had been discontinued, however the withdrawal syndrome occurred in one instance only. One female patient presented signs of CAD, the other hypokalemia. Resumption of treatment with the same beta blocker promptly caused the symptoms to disappear. The pathogenesis of the withdrawal syndrome still being obscure, various postulates are raised in respect of beta blocker therapy. PMID:6796833

  20. Physical Therapy for Vulvar Vestibulitis Syndrome: A Retrospective Study

    Microsoft Academic Search

    Sophie Bergeron; Claudia Brown; Marie-Josée Lord; Monica Oala; Yitzchak M. Binik; Samir Khalifé

    2002-01-01

    This retrospective study evaluated the effectiveness of physical therapy in relieving painful intercourse and improving sexual function in women diagnosed with vulvar vestibulitis. This syndrome is a frequent cause of premenopausal dyspareunia and is characterized by a sharp, burning pain located within and limited to the vulvar vestibule (vaginal entry) and elicited primarily via pressure applied to the area. Participants

  1. Family Therapy of Terroristic Trauma: Psychological Syndromes and Treatment Strategies.

    ERIC Educational Resources Information Center

    Miller, Laurence

    2003-01-01

    Reviews pertinent literature on terroristic trauma and combines this information with the author's experience in treating adults, children, and family victims and survivors of recent terrorist attacks. Describes the psychological syndromes resulting from terrorism and discusses the relevant individual and family therapy modalities for treating…

  2. Peripherally acting therapies for the treatment of irritable bowel syndrome.

    PubMed

    Saad, Richard J

    2011-03-01

    Gut-acting therapies are common therapies for irritable bowel syndrome (IBS). Most of these peripheral acting agents are primarily targeted at individual symptoms. The evidence supporting the use of these agents in IBS is largely anecdotal. Serotonergic agents and the chloride channel activator lubiprostone have shown efficacy in treating symptoms of IBS. The clinical evidence supporting the use of these agents is based on data from high-quality clinical trials. The use of serotonergic agents for IBS in the United States is limited to the 5-hydroxytryptamine-3 antagonist alosetron in the treatment of women with severe IBS with diarrhea refractory to traditional therapy. PMID:21333906

  3. Care of the Cancer Survivor: Metabolic Syndrome after Hormone-Modifying Therapy

    Microsoft Academic Search

    Amanda J. Redig; Hidayatullah G. Munshi

    2010-01-01

    Emerging evidence implicates metabolic syndrome as a long-term cancer risk factor but also suggests that certain cancer therapies might increase patients' risk of developing metabolic syndrome secondary to cancer therapy. In particular, breast cancer and prostate cancer are driven in part by sex hormones; thus, treatment for both diseases is often based on hormone-modifying therapy. Androgen suppression therapy in men

  4. 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

  5. Pharmacologic therapies for complex regional pain syndrome

    Microsoft Academic Search

    Sean Mackey; Steven Feinberg

    2007-01-01

    Complex regional pain syndrome (CRPS) remains a challenging condition to diagnose and treat. There are few large-scale, randomized\\u000a trials of pharmacologic agents, and most published studies are small, uncontrolled, or presented only in abstract form at\\u000a meetings. The most commonly used agents, such as anticonvulsants, antidepressants, and opiates, have been found to be useful\\u000a for other neuropathic pain conditions in

  6. J r me DURAND-LOSE Automates cellulaires,

    E-print Network

    Durand-Lose, Jérôme

    conomies d' nergie Limites du calcul r versible (Bennett, To oli and Margolus) 3 Espace sousJ r me DURAND-LOSE Automates cellulaires, simulation et r versibilit LaBRI, UMR CNRS 5800-jacent Dimension : d Zd Espace in ni 4 #12;Automate cellulaire (CA) tats : S Rayon : r Fonction locale : f : S2r+1

  7. 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

  8. Electropalatographic therapy for children and young people with Down's syndrome.

    PubMed

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

    2009-12-01

    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 syndrome, aged 10:1 to 18:9, received 24 individualized therapy sessions using EPG. Simultaneous acoustic and EPG recordings were made pre- and post-intervention during 10 repetitions of a word list containing lingua-palatal consonants. Participants also completed the DEAP phonology sub-test at both time points. Post-treatment, all participants showed qualitative and quantifiable differences in EPG patterns and improvements in DEAP percentage consonants correct. EPG assessment and therapy appears a positive approach for identifying and improving articulatory patterns in children with DS. PMID:20001308

  9. Therapies in Aicardi–Goutičres syndrome

    PubMed Central

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

    2014-01-01

    Aicardi–Goutičres 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

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

    Microsoft Academic Search

    Desmond J. Smith; Edward M. Rubin

    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.

  11. Immunosuppressive therapy for myelodysplastic syndrome: efficacy of methylprednisolone pulse therapy with or without cyclosporin A

    Microsoft Academic Search

    Toshiki Yamada; Hisashi Tsurumi; Senji Kasahara; Takeshi Hara; Michio Sawada; Hisataka Moriwaki

    2003-01-01

    We investigated whether immunosuppressive therapy using methylprednisolone (mPSL) with or without cyclosporin A (CsA) could benefit patients with myelodysplastic syndrome (MDS). Eligibility criteria for this study were a clinical diagnosis of MDS with less than 5% blast in peripheral blood, less than 10% blast in bone marrow and advanced cytopenia. Among 73 patients with MDS, 18 eligible and consecutive patients

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

    PubMed

    Schäffler, Andreas; Lindner, Uwe

    2015-03-01

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

  13. Update in the pharmaceutical therapy of the irritable bowel syndrome.

    PubMed

    Thielecke, F; Maxion-Bergemann, S; Abel, F; Gonschior, A K

    2004-04-01

    The therapeutic management of the irritable bowel syndrome (IBS) is ineffective and not satisfying either patients or practitioners. Research in functions of the enteric nervous system and its interaction with the central nervous system is the basis for the development of emerging pharmaceuticals in therapy of the IBS. These pharmaceuticals include agents such as opioid agonists, psychotropic agents and particularly serotonin receptor modulators. These novel pharmaceuticals aim to provide a more comprehensive approach in the therapy of the IBS and will serve both patients and practitioners. So far, the US Food and Drug Administration has approved two agents specifically for the treatment of the IBS, both belonging to the group of serotonin receptor modulators. However, questions remain whether a single therapy is sufficient in the management of IBS because this disease is influenced by biological and psychological as well as cultural and social factors. PMID:15161123

  14. Therapy of Sjögren's syndrome. New aspects and future directions.

    PubMed

    Vlachoyiannopoulos, P G

    1998-02-01

    Therapy of Sjögren's syndrome remains empirical and symptomatic. The main goals are to treat the disease related features, especially sicca manifestations, since the immunosuppressive therapy has not given promising results. For the treatment of keratoconjunctivitis sicca: local stimulators of tear secretion, protective bicarbonate buffered solutions, replacement therapy or supportive operative procedures should be tried. For oral manifestations: stimulators of salivary secretion such as pilocarpine, or agents changing the consistency of saliva such as bromhexine orally should be tried. Saliva substitutes have a transient effect. Frequent ingestion of sugar free liquids may help. Oral hygiene is important to avoid oral candidiasis and dental caries. Treatment of parotid gland swelling is not necessary. Pulmonary manifestations include pulmonary infiltrates in perialveolar areas, nodular or cavitary lesions which may represent lymphoma. Hilar adenopathy, solid or cavitary lesions should be biopsied. In case of vasculitis prednisolone 1 mg/kg/day with progressive tapering should be tried. Renal involvement is manifested mainly as interstitial disease. Administration of NaHCO3 or sodium citrate is important to prevent acidosis and nephrocalcinosis. Vasculitis, when it is of the leukoclasic form, does not need therapy; when it is manifested with severe major organ involvement corticosteroids and/or cytotoxic therapy should be tried. Lymphoma is treated as in the patients without Sjögren's in close collaboration with the oncology department. PMID:11490519

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

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  16. Treating irritable bowel syndrome: overview, perspective and future therapies

    PubMed Central

    Camilleri, Michael

    2004-01-01

    This article summarizes the ongoing challenges in irritable bowel syndrome and the exciting opportunities for development of novel therapies for this common, enigmatic condition. The challenges include insufficient understanding of mechanisms, lack of specificity of symptoms, differentiation from other conditions, and lack of availability of noninvasive tests to identify dysfunctions. However, significant opportunities are reflected by the advances in clinical trial design and, particularly, clinically relevant end points for such trials, and the increasing understanding of basic neuroenteric science. The latter has delivered two new medications to the practice (alosetron and tegaserod), and other candidate therapies (other serotonergic, tachykininergic, opioid, cannabinoid modulators) are being carefully appraised as potential drugs for the future. PMID:15037521

  17. 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

  18. [Cutaneous radiation syndrome: clinical features, diagnosis and therapy].

    PubMed

    Gottlöber, P; Krähn, G; Peter, R U

    2000-08-01

    Accidental exposure to ionizing radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or over days to weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997, as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated proinflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, latency period, acute stage, chronic stage and late stage. The entire complex is referred to as cutaneous radiation syndrome. The time course depends on several factors such as the radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and amount of skin exposed. For the diagnosis of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research, today treatment may include topical or systemic corticosteroids, gamma-interferon, pentoxifylline, vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease, most patients require interdisciplinary treatment in specialized centres. Dermatologists are essential partners in the life-long follow-up and therapy of such patients. PMID:10997311

  19. Adjuvant physical therapy versus occupational therapy in patients with reflex sympathetic dystrophy\\/complex regional pain syndrome type I

    Microsoft Academic Search

    H. Margreet Oerlemans; Rob A. B. Oostendorp; Theo de Boo; Lyckle van der Laan; Johan L. Severens; R. Jan A. Goris

    2000-01-01

    Oerlemans HM, Oostendorp RAB, de Boo T, van der Laan L, Severens JL, Goris RJA. Adjuvant physical therapy versus occupational therapy in patients with reflex sympathetic dystrophy\\/complex regional pain syndrome type I. Arch Phys Med Rehabil 2000;81:49-56. Objective: To investigate the effectiveness and cost of physical therapy (PT) or occupational therapy (OT) in patients with reflex sympathetic dystrophy (RSD). Design:

  20. [Common and not so common nerve entrapment syndromes: diagnostics, clinical aspects and therapy].

    PubMed

    Schulte-Mattler, W J; Grimm, T

    2015-02-01

    Altogether, nerve entrapment syndromes have a very high incidence. Neurological deficits attributable to a focal peripheral nerve lesion lead to the clinical diagnosis. Frequently, pain is the dominant symptom but is often not confined to the nerve supply area. Electroneurography, electromyography, and more recently also neurosonography are the most important diagnostic tools. In most patients surgical therapy is necessary, which should be carried out in a timely manner. The entrapment syndromes discussed are suprascapular nerve entrapment, carpal tunnel syndrome, cubital tunnel syndrome, meralgia paraesthetica, thoracic outlet syndrome and anterior interosseous nerve syndrome. PMID:25526716

  1. Drug-induced Sweet's syndrome secondary to hepatitis C antiviral therapy.

    PubMed

    Gheorghe, Liana; Cotruta, Bogdan; Trifu, Viorel; Cotruta, Cristina; Becheanu, Gabriel; Gheorghe, Cristian

    2008-09-01

    Pegylated interferon-alpha in combination with ribavirin currently represents the therapeutic standard for the hepatitis C virus infection. Interferon based therapy may be responsible for many cutaneous side effects. We report a case of drug-induced Sweet's syndrome secondary to hepatitis C antiviral therapy. To our knowledge, this is the first reported case of Sweet's syndrome in association with pegylated interferon-alpha therapy. PMID:18937663

  2. Complementary therapies for fibromyalgia syndrome -- a rational approach.

    PubMed

    Saad, Marcelo; de Medeiros, Roberta

    2013-08-01

    Fibromyalgia syndrome (FMS) is a complex chronic condition, the treatment of which still poses many challenges. Complementary therapies (CT) have gained increasing popularity among FMS patients. Past reviews evaluating effectiveness of CT for treatment of FMS revealed some potential benefits arising from certain modalities. However, with the data available, it becomes difficult to formulate a unique opinion about this matter. In the present paper, the authors propose some guidelines to conciliate the expectations of patients with the lack of solid evidence, in a practicable yet responsible way. Many items should be considered before prescribing, proscribing, or tolerating a CT, besides results from randomized controlled trials, such as efficacy (mechanisms of action); effectiveness (effect in practice); efficiency (cost-benefit ratio); safety; risk-benefit ratio; legislation; healthcare service involvement; practitioner characteristics; objective (purpose); and the potential of combination with conventional treatment. PMID:23801007

  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. “miRNA-based therapies for the Irritable Bowel Syndrome

    PubMed Central

    Zhou, QiQi; Verne, G. Nicholas

    2011-01-01

    The irritable bowel syndrome is a common disorder of unknown etiology. Recently, a group of dysregulated miRNAs in blood microvesicles and in colon tissue have been identified in IBS patients. miRNAs have been show to modulate specific biological processes such as differentiation, proliferation, apoptosis and metabolism. The ideal strategy would be to use specific miRNAs as both diagnostic and therapeutic tools to recover intestinal function and treat intractable gastrointestinal symptoms. In conclusion, further study of the functional role of miRNAs will lead to a better understanding of the dysregulation of intestinal pathways in IBS patients. The results may lead to preventive and/or therapeutic strategies that use small molecules (such as, mimic or inhibitors of specific miRNAs) to affect genetic and epigenetic control. Future clinical trials may use microvesicle associated miRNA-based therapies by using specific inhibitors/mimics of miRNA to target gene expression and treat Irritable Bowel Syndrome. PMID:21476882

  5. Successful Treatment of Crush Syndrome Complicated with Multiple Organ Dysfunction Syndrome Using Hybrid Continuous Renal Replacement Therapy

    Microsoft Academic Search

    Qin Wei; Su Baihai; Fu Ping; Chen Xiaolei; Li Jing; Zhen Rong

    2009-01-01

    Background: The M8.1 ‘Wenchuan’ earthquake occurred on May 12th 2008 causing many injuries and casualties. We report a case with crush syndrome and multiple organ dysfunction syndrome (MODS) successfully treated with hybrid continuous renal replacement therapy (CRRT). Method: The patient is a 16-year-old female who was rescued from a collapsed building after 17 h. Emergency amputation was performed. Infections and

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

    PubMed Central

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

    2015-01-01

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

  7. Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes.

    PubMed

    Cannon, Christopher P; Blazing, Michael A; Giugliano, Robert P; McCagg, Amy; White, Jennifer A; Theroux, Pierre; Darius, Harald; Lewis, Basil S; Ophuis, Ton Oude; Jukema, J Wouter; De Ferrari, Gaetano M; Ruzyllo, Witold; De Lucca, Paul; Im, KyungAh; Bohula, Erin A; Reist, Craig; Wiviott, Stephen D; Tershakovec, Andrew M; Musliner, Thomas A; Braunwald, Eugene; Califf, Robert M

    2015-06-18

    Background Statin therapy reduces low-density lipoprotein (LDL) cholesterol levels and the risk of cardiovascular events, but whether the addition of ezetimibe, a nonstatin drug that reduces intestinal cholesterol absorption, can reduce the rate of cardiovascular events further is not known. Methods We conducted a double-blind, randomized trial involving 18,144 patients who had been hospitalized for an acute coronary syndrome within the preceding 10 days and had LDL cholesterol levels of 50 to 100 mg per deciliter (1.3 to 2.6 mmol per liter) if they were receiving lipid-lowering therapy or 50 to 125 mg per deciliter (1.3 to 3.2 mmol per liter) if they were not receiving lipid-lowering therapy. The combination of simvastatin (40 mg) and ezetimibe (10 mg) (simvastatin-ezetimibe) was compared with simvastatin (40 mg) and placebo (simvastatin monotherapy). The primary end point was a composite of cardiovascular death, nonfatal myocardial infarction, unstable angina requiring rehospitalization, coronary revascularization (?30 days after randomization), or nonfatal stroke. The median follow-up was 6 years. Results The median time-weighted average LDL cholesterol level during the study was 53.7 mg per deciliter (1.4 mmol per liter) in the simvastatin-ezetimibe group, as compared with 69.5 mg per deciliter (1.8 mmol per liter) in the simvastatin-monotherapy group (P<0.001). The Kaplan-Meier event rate for the primary end point at 7 years was 32.7% in the simvastatin-ezetimibe group, as compared with 34.7% in the simvastatin-monotherapy group (absolute risk difference, 2.0 percentage points; hazard ratio, 0.936; 95% confidence interval, 0.89 to 0.99; P=0.016). Rates of prespecified muscle, gallbladder, and hepatic adverse effects and cancer were similar in the two groups. Conclusions When added to statin therapy, ezetimibe resulted in incremental lowering of LDL cholesterol levels and improved cardiovascular outcomes. Moreover, lowering LDL cholesterol to levels below previous targets provided additional benefit. (Funded by Merck; IMPROVE-IT ClinicalTrials.gov number, NCT00202878 .). PMID:26039521

  8. A randomized, placebo-controlled clinical trial on the efficacy of chiropractic therapy on premenstrual syndrome

    Microsoft Academic Search

    Maxwell J. Walsh; Barbara I. Polus

    1999-01-01

    Objective: To evaluate the efficacy of chiropractic therapy on the treatment of symptoms associated with premenstrual syndrome. Design: A prospective, randomized, placebo-controlled, crossover clinical trial. Setting: Multicenter private clinics. Subjects: Twenty-five subjects with diagnosed premenstrual syndrome (with a Moos premenstrual syndrome questionnaire plus daily symptom monitoring). Intervention: After randomization, 16 of the subjects received high-velocity, low-amplitude spinal manipulation plus soft

  9. Down's syndrome-associated Single Minded 2 gene as a pancreatic cancer drug therapy target

    Microsoft Academic Search

    Maurice Phil DeYoung; Matthew Tress; Ramaswamy Narayanan

    2003-01-01

    We report here a pancreatic cancer drug therapy utility of a gene involved in Down's syndrome. Single Minded 2 gene (SIM2) from Down's Syndrome Critical Region was expressed in pancreatic cancer-derived cell lines as well as in tumor tissues, but not in the normal pancreas. A related member of the SIM family, SIM1, did not show similar specificity. Inhibition by

  10. [The clinical picture, diagnosis and combined therapy of the cardiospinal syndromes in myocardial infarct].

    PubMed

    Sadykova, G K

    1993-01-01

    As a result of complex studies, out of 275 patients with myocardial infarction, cardiospinal syndromes were distinguished in 68 cases (24,6%). Of these, 14 manifested a syndrome of the anterior spinal artery, 6 a syndrome of the posterior longitudinal arteries. Disturbances of spinal circulation in the system of the radicular spinal arteries were revealed in 48 patients. Clinically, they involved a cardiohumerospinal syndrome (18 patients), cardio-intercostal spinal syndrome (9 patients), and cardio-lumbosacral syndrome (21 patients). Complex therapy of the cardiospinal syndromes (besides myocardial infarction treatment) included parenteral administration of 10% sodium salicylate, solkoseryl, troxevasin, dibazol, galanthamine (in the postinfarction period), proserin, as well as oral administration of antisclerotic, metabolic, nootropic and venotonic drugs. Complete regression of the spinal symptoms was recorded in 35, improvement in 12 patients. In the remaining patients, the recovery was negligible, and such patients were administered repeated courses of treatment. PMID:8042374

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

    PubMed Central

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

    2015-01-01

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

  12. The Effect of Biofeedback Physical Therapy in Men with Chronic Pelvic Pain Syndrome Type III

    Microsoft Academic Search

    Erik B. Cornel; Ernst P. van Haarst; Ria W. M. Browning-Groote Schaarsberg; Jenet Geels

    2005-01-01

    Recent studies suggest that the symptoms of chronic non-bacterial prostatitis (CP) or Chronic Pelvic Pain Syndrome (CPPS) may be due to or associated with pelvic floor muscle dysfunction. Therapies aimed to improve relaxation and proper use of the pelvic floor muscles such as biofeedback physical therapy and pelvic floor re-education are expected to give symptom improvement. The objective of this

  13. Physical therapy alters recruitment of the vasti in patellofemoral pain syndrome

    Microsoft Academic Search

    SALLIE M. COWAN; KIM L. BENNELL; KAY M. CROSSLEY; PAUL W. HODGES; JENNY MCCONNELL

    2002-01-01

    COWAN, S. M., K. L. BENNELL, K. M. CROSSLEY, P. W. HODGES, and J. MCCONNELL. Physical therapy alters recruitment of the vasti in patellofemoral pain syndrome. Med. Sci. Sports Exerc., Vol. 34, No. 12, pp. 1879 -1885, 2002. Purpose: To investigate the effect of physical therapy treatment on the timing of electromyographic (EMG) activity of the vasti in individuals with

  14. Immediate effect of intensive atorvastatin therapy on lipid parameters in patients with acute coronary syndrome

    Microsoft Academic Search

    Dagmar Vondrakova; Petr Ostadal; Andreas Kruger

    2010-01-01

    BACKGROUND: Intensive statin therapy decreases mortality and incidence of coronary events in patients after acute coronary syndrome (ACS). Recently it has been reported that spontaneous lipid levels remain clinically stable during ACS. The immediate influence of lipid levels by high-dose statin therapy initiated at admission in ACS patients is, however, not clear. METHODS: We have analyzed a group of 114

  15. Immunonutritional effects during synbiotics therapy in pediatric patients with short bowel syndrome

    Microsoft Academic Search

    Keiichi Uchida; Takuya Takahashi; Mikihiro Inoue; Masami Morotomi; Kohei Otake; Makoto Nakazawa; Yoshihide Tsukamoto; Chikao Miki; Masato Kusunoki

    2007-01-01

    The aim of this study was to evaluate the effects of synbiotic therapy in patients with short bowel syndrome (SBS). Four pediatric\\u000a patients with SBS, who were receiving synbiotics therapy including Bifidobacterium breve, Lactobacillus casei and galactooligosaccharides, were enrolled in this study. We evaluated changes in immunonutritional parameters before and\\u000a after receiving synbiotics therapy. Four normal, healthy, age-matched children were

  16. Minimally Invasive Therapies for Chronic Pelvic Pain Syndrome

    Microsoft Academic Search

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

    2010-01-01

    Chronic pelvic pain syndrome (CPPS) is a common problem among men and women worldwide. It is a symptoms-complex term for interstitial\\u000a cystitis\\/painful bladder syndrome in women and chronic prostatitis\\/chronic pelvic pain syndrome in men. Patients often present\\u000a with a combination of lower urinary tract symptoms with pelvic pain and sexual dysfunction. No gold standard exists for diagnosis\\u000a or treatment of

  17. 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

  18. Systemic inflammatory response syndrome, sepsis, and antimicrobial therapy

    Microsoft Academic Search

    Martin Furr

    2003-01-01

    Neonatal sepsis is a serious and often fatal disease of the foal. Research has documented that the clinical syndrome which results from bacterial infection of the neonate is the result of a widespread and florid inflammatory response which is termed the systemic inflammatory response syndrome (SIRS). Successful treatment of affected individuals is possible, and an important component of the treatment

  19. 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

  20. MECP2 Isoform-Specific Vectors with Regulated Expression for Rett Syndrome Gene Therapy

    Microsoft Academic Search

    Mojgan Rastegar; Akitsu Hotta; Peter Pasceri; Maisam Makarem; Aaron Y. L. Cheung; Shauna Elliott; Katya J. Park; Megumi Adachi; Frederick S. Jones; Ian D. Clarke; Peter Dirks; James Ellis

    2009-01-01

    Background: Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment. Our objective is to develop viral vectors for MECP2 gene transfer into Neural Stem Cells (NSC) and neurons suitable for gene therapy of Rett Syndrome. Methodology\\/Principal

  1. MECP2 Isoform-Specific Vectors with Regulated Expression for Rett Syndrome Gene Therapy

    Microsoft Academic Search

    Mojgan Rastegar; Akitsu Hotta; Peter Pasceri; Maisam Makarem; Aaron Y. L. Cheung; Shauna Elliott; Katya J. Park; Megumi Adachi; Frederick S. Jones; Ian D. Clarke; Peter Dirks; James Ellis; Rafael Linden

    2009-01-01

    BackgroundRett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment. Our objective is to develop viral vectors for MECP2 gene transfer into Neural Stem Cells (NSC) and neurons suitable for gene therapy of Rett Syndrome.Methodology\\/Principal FindingsWe generated

  2. Identification of Down's syndrome critical locus gene SIM2-s as a drug therapy target for solid tumors

    Microsoft Academic Search

    Maurice Phil Deyoung; Matthew Tress; Ramaswamy Narayanan

    2003-01-01

    We report here a cancer drug therapy use of a gene involved in Down's syndrome. Using bioinformatics approaches, we recently predicted Single Minded 2 gene (SIM2) from Down's syndrome critical region to be specific to certain solid tumors. Involvement of SIM2 in solid tumors has not previously been reported. Intrigued by a possible association between a Down's syndrome gene and

  3. [Surfactant replacement therapy increases life-span of patients with acute respiratory distress syndrome].

    PubMed

    Potapov, A L; Novikov, N Iu; Tumanski?, V A; Babanin, A A

    2013-02-01

    The aim of the study is the evaluation of the influence of surfactant replacement therapy on the life-span of patients with acute respiratory distress syndrome (ARDS) in fatal cases. It has been determined, that in patients, were died from ARDS, exogenous surfactant therapy increases life-span from the moment of establishing of diagnosis of syndrome to fatal outcome. The initial functional state of lungs does not influence on life-span of patients with ARDS, but administration of exogenous surfactant is the important predictor of its increase. PMID:23705485

  4. Lipid-lowering therapies in the management of acute coronary syndromes

    Microsoft Academic Search

    Lori Mosca; Angelo Biviano

    2002-01-01

    Despite the significant advances made in the treatment of acute coronary syndromes (ACS) with antiplatelet and antithrombotic\\u000a therapy, the risk of serious complications remains high, especially in the first few months following an acute coronary event.\\u000a Although lipid-lowering therapy in patients with significant risk factors (primary prevention) or stable coronary disease\\u000a (secondary prevention) is known to improve long-term survival, patients

  5. MRI findings in Tolosa–Hunt syndrome before and after systemic corticosteroid therapy

    Microsoft Academic Search

    Sinan Çakirer

    2003-01-01

    Tolosa–Hunt syndrome (THS) is characterized by painful ophthalmoplegia due to a granulomatous inflammation in the cavernous sinus. Corticosteroid therapy dramatically resolves both the clinical and radiological findings of THS. We present MRI findings of six patients with a clinical history of at least one episode of unilateral or bilateral orbital-periorbital pain, clinical findings of associated paresis of one or more

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  7. Surfactant Lavage Therapy for Meconium Aspiration Syndrome: A Systematic Review and Meta-Analysis

    Microsoft Academic Search

    Hyun Jin Choi; Seokyung Hahn; Joongyub Lee; Byung-Joo Park; Soon Min Lee; Han-Suk Kim; Chong-Woo Bae

    2012-01-01

    Background: Lung lavage with diluted surfactant has emerged as an innovative treatment for meconium aspiration syndrome (MAS). However, the treatment effect has not yet been fully established. Objective: To investigate the effects of surfactant lavage therapy for MAS by a systematic meta-analysis. Methods: Relevant studies were identified by database searches in MEDLINE (from 1950), EMBASE (from 1980), and CENTRAL, up

  8. 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…

  9. 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.

  10. Insulin pump therapy for type 1 diabetes treatment in a girl with Down's syndrome

    Microsoft Academic Search

    Andrea E. Scaramuzza; Elisa Giani; Sara Riboni; Daniele Spiri; Alessandra De Palma; Chiara Mameli; Gian Vincenzo Zuccotti

    2009-01-01

    We present the case of a 29.5-year-old girl with Down's syndrome, type 1 diabetes mellitus (DMT1), autoimmune thyroiditis and celiac disease starting on insulin pump therapy. After 22-month follow-up hemoglobin A1c dropped from 9% to 6.8%, even with a lower insulin requirement and no change in BMI.

  11. 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.

  12. Drug resistant neuroleptic malignant syndrome and the role of electroconvulsive therapy.

    PubMed

    Hashim, Husnain; Zeb-un-Nisa; Alrukn, Suhail Abdulla Mohammad; Al Madani, Abubaker Abdul Rahman Shaffi

    2014-04-01

    Neuroleptic malignant syndrome is considered as a rare but potentially fatal complication of neuroleptic medications e.g.,antipsychotics, sedatives and anti emetics. It is characterized by hyperthermia, muscle rigidity, an elevated creatine kinase level and autonomic instability. The syndrome often develops after the start of antipsychotic or a sudden increase in dosage of the neuroleptic medication or in states of dehydration. Treatment is mainly supportive and includes withdrawal of the neuroleptic medication and, possibly, administration of drugs such as dantrolene and bromocriptine. In rare cases where drugs treatment remains ineffective a trial of electroconvulsive therapy is being given. The case presented is a drug resistant case of Neuroleptic Malignant Syndrome where finally electroconvulsive therapy was effective. PMID:24864649

  13. Ethical issues in emerging new treatments such as growth hormone therapy for children with Down syndrome and Prader-Willi syndrome.

    PubMed

    Kodish, E; Cuttler, L

    1996-08-01

    As new therapies and new applications of existing drugs expand, pediatricians are often in the position of trying to decide when and whether use of a new treatment is appropriate. In this paper, we address this dilemma by focusing on ethical issues in the use of growth hormone therapy for children with Down syndrome and Prader-Willi syndrome as an example. We discuss six major questions that link scientific and ethical considerations in analyzing these difficult issues. PMID:8954275

  14. Cholestrol emboli syndrome: acute renal insufficiency after a procedure or a thrombolytic therapy or anticoagulant therapy.

    PubMed

    Sekhar, C Chandra; Jindal, Parveen; Karna, V Guru; Aggarwala, Manoj; Sekhar, Soma

    2013-06-01

    Cholesterol emboli syndrome is due to dislodgment of cholesterol crystals from the atherosclerotic plaques lining the walls of major arteries resulting in an occlusion of small arteries. We describe a case of severe cutaneous and renal cholesterol emboli syndrome following coronary angiography showing our observation that this syndrome is often unrecognized or misdiagnosed and that a better evaluation of risks factors in patients undergoing invasive procedures could prevent this severe complication. PMID:24426640

  15. Therapy Insight: adipocytokines in metabolic syndrome and related cardiovascular disease

    Microsoft Academic Search

    Yuji Matsuzawa

    2006-01-01

    Abdominal fat accumulation has been shown to play crucial roles in the development of metabolic syndrome. Visceral fat accumulation particularly is closely correlated to the development of cardiovascular disease and obesity-related disorders such as diabetes mellitus, hyperlipidemia and hypertension. Given these clinical findings, the functions of adipocytes have been intensively investigated in the past 10 years, and have been revealed

  16. 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…

  17. Common adverse events associated with ribavirin therapy for Severe Fever with Thrombocytopenia Syndrome.

    PubMed

    Lu, Qing-Bin; Zhang, Shu-Yan; Cui, Ning; Hu, Jian-Gong; Fan, Ya-Di; Guo, Chen-Tao; Qin, Shu-Li; Yang, Zhen-Dong; Wang, Li-Yuan; Wang, Hong-Yu; Zhang, Xiao-Ai; Liu, Wei; Cao, Wu-Chun

    2015-07-01

    Severe Fever with Thrombocytopenia Syndrome (SFTS) is associated with high mortality rate, for which antiviral therapy with ribavirin was recommended. Based on our previous study, no visible effect of ribavirin therapy in improving clinical outcome was observed. Here we have accumulated the sample size to 634, and by performing prospective observation on the clinical progress and laboratory parameters, we found a significantly higher incidence of anemia and hyperamylasemia in patients who received ribavirin therapy in comparison with those who received no therapy. Generalized estimating equation model disclosed a significant effect on hemoglobin reduction and blood amylase augmentation from ribavirin administration. The occurrence of anemia and hyperamylasemia was associated with SFTS patients receiving ribavirin therapy, which might be adverse event of this drug administration. The recommendation of ribavirin for treating SFTS should be applied with caution. PMID:25892251

  18. The current state of antiplatelet therapy in acute coronary syndromes: the data and the real world.

    PubMed

    Alexander, John H

    2009-04-01

    Managing antiplatelet therapy for patients with acute coronary syndromes (ACS) is complex, and current therapy options and approaches for these patients are suboptimal. Despite the use of available antiplatelet therapies--aspirin, clopidogrel, and the parenteral glycoprotein IIb/IIIa inhibitors--recurrence of ischemic events in patients with ACS continues to rise over time. Moreover, bleeding remains an important--and often underappreciated--risk with these therapies, and national registries demonstrate that dosing of antiplatelet therapies frequently strays from evidence-based guidelines. Recent quality-improvement initiatives developed in conjunction with national registries of patients with ACS promise to improve adherence to guidelines through hospital-specific performance reports. More evidence-based use of existing and emerging antiplatelet agents has the potential to improve both ischemic and bleeding outcomes in patients with ACS. PMID:19332589

  19. Metabolic syndrome therapy: prevention of vascular injury by antidiabetic agents.

    PubMed

    Dominguez, Ligia J; Sowers, James R

    2005-04-01

    More than 65 million Americans are currently obese. Type 2 diabetes mellitus, frequently seen in obese subjects, affects 17 million adults in the United States, with a continuous and alarmingly increasing rate. To prevent development of diabetes in those who are at high risk, it is recommended to optimize meal planning and enhance physical activity to make sustained weight reduction possible. In addition to lifestyle changes, various oral antidiabetic agents are available, with diverse mechanisms of action. Some target defective insulin secretion (sulphonylureas, benzoic acid derivatives) or glucose absorption (glycosidase inhibitors), whereas others target insulin resistance (metformin, thiazolidinediones). Patients with metabolic syndrome and diabetes have an increased risk for cardiovascular disease linked to a higher prevalence of hypertension, dyslipidemia, microalbuminuria, and altered hemostasis--parameters that may be modified by antidiabetic agents. In this article, we review the oral agents used to treat type 2 diabetes and the metabolic syndrome, and their effects on vascular tissue. PMID:15748534

  20. 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

  1. Stevens-Johnson syndrome in a boy with nephrotic syndrome during prednisolone therapy

    Microsoft Academic Search

    Dae Sun Jo; Jun-Won Yang; Pyoung Han Hwang; Dae-Yeol Lee

    2003-01-01

    Stevens-Johnson syndrome (SJS) is a mucocutaneous disease that can be lethal. It can occur in association with altered immunological conditions and the administration of various drugs, including corticosteroids. We report a case of SJS in a 14-year-old male with nephrotic syndrome, who was treated with oral prednisolone for 6 weeks. He presented symptoms of fever, skin lesions consisting of multiple vesiculopapular

  2. Modified Protocols for Surfactant Therapy in Experimental Meconium Aspiration Syndrome

    Microsoft Academic Search

    Katsumi Tashiro; Xiao-Guang Cui; Tsutomu Kobayashi; Tore Curstedt; Bengt Robertson

    2003-01-01

    In adult rats with experimental meconium aspiration syndrome, we investigated whether the therapeutic effect of exogenous surfactant was increased by addition of dextran or preceding airway lavage with diluted surfactant. Animals (n = 72) ventilated with pure oxygen were given human meconium suspension (50–75 mg kg–1) through the airways. When the PaO2 had decreased to <20 kPa (mean ± SD

  3. Pelvic Floor Therapies in Chronic Pelvic Pain Syndrome

    Microsoft Academic Search

    Ragi Doggweiler; Adam F. Stewart

    2011-01-01

    Chronic pelvic pain syndrome is a poorly understood clinical entity associated with urinary symptoms, pelvic floor dysfunction,\\u000a and multisystem disorders. Treatment of pelvic floor dysfunction is difficult and often frustrating for the patient as well\\u000a as for the involved physician. The purpose of this review is to update clinicians on the latest research for the treatment\\u000a of pelvic floor dysfunction

  4. Fatty Acids in the Causation and Therapy of Metabolic Syndrome

    Microsoft Academic Search

    Ram B. Singh; Fabien De Meester; Viola Mechirova; Daniel Pella; Kuniaki Otsuka

    The role of fatty acids in the prevention and pathogenesis of metabolic syndrome leading to cardiovascular diseases, type\\u000a 2 diabetes and insulin resistance are reviewed. We did Medline, PubMed search till March, 2007. Excess of linoleic acid, trans\\u000a fatty acids (TFA), saturated and total fat as well as refined starches and sugar are proinflammatory. Low dietary monounsaturated\\u000a fatty acids (MUFA)

  5. Menstrual Cyclicity After Metformin Therapy in Polycystic Ovary Syndrome

    Microsoft Academic Search

    Elsy Velázquez M; Arnaldo Acosta; Soaira G Mendoza

    1997-01-01

    Objective: To assess the effect of insulin-lowering treatment on menstrual cyclicity in polycystic ovary syndrome (PCOS).Methods: Forty oligoamenorrheic women with PCOS were recruited in a prospective clinical study to receive metformin for a minimum period of 6 months. Twenty-two women completed the study. Serum LH, FSH, free testosterone, and glucose and insulin response to oral glucose load were measured both

  6. Update: Acute coronary syndromes (V). Personalized antiplatelet therapy.

    PubMed

    Gurbel, Paul A; Rafeedheen, Rahil; Tantry, Udaya S

    2014-06-01

    It is well established that high on-treatment platelet reactivity to adenosine diphosphate during clopidogrel therapy is an independent risk factor for ischemic event occurrences in a postpercutaneous coronary intervention patients. However, the precise role of platelet function testing remains debated. Platelet function testing to ensure optimal platelet inhibition has been recommended by some authorities to improve outcomes in patients treated with clopidogrel. Recent prospective, randomized trials of personalized antiplatelet therapy have failed to demonstrate a benefit of platelet function testing in improving outcomes. In this review article, we discuss the mechanisms responsible for clopidogrel nonreponsiveness, recent trials of platelet function testing, and other new developments in the field of personalized antiplatelet therapy. PMID:24863597

  7. Randomized Multicenter Feasibility Trial of Myofascial Physical Therapy for Treatment of Urologic Chronic Pelvic Pain Syndrome

    PubMed Central

    FitzGerald, Mary P; Anderson, Rodney U; Potts, Jeannette; Payne, Christopher K; Peters, Kenneth M; Clemens, J Quentin; Kotarinos, Rhonda; Fraser, Laura; Cosby, Annamarie; Fortman, Carole; Neville, Cynthia; Badillo, Suzanne; Odabachian, Lisa; Sanfield, Anna; O’Dougherty, Betsy; Halle-Podell, Rick; Cen, Liyi; Chuai, Shannon; Landis, J Richard; Kusek, John W; Nyberg, Leroy M

    2010-01-01

    Objectives To determine the feasibility of conducting a randomized clinical trial designed to compare two methods of manual therapy (myofascial physical therapy (MPT) and global therapeutic massage (GTM)) among patients with urologic chronic pelvic pain syndromes. Materials and Methods Our goal was to recruit 48 subjects with chronic prostatitis/chronic pelvic pain syndrome or interstitial cystitis/painful bladder syndrome at six clinical centers. Eligible patients were randomized to either MPT or GTM and were scheduled to receive up to 10 weekly treatments, each 1 hour in duration. Criteria to assess feasibility included adherence of therapists to prescribed therapeutic protocol as determined by records of treatment, adverse events which occurred during study treatment, and rate of response to therapy as assessed by the Patient Global Response Assessment (GRA). Primary outcome analysis compared response rates between treatment arms using Mantel-Haenszel methods. Results Twenty-three (49%) men and 24 (51%) women were randomized over a six month period. Twenty-four (51%) patients were randomized to GTM, 23 (49%) to MPT; 44 (94%) patients completed the study. Therapist adherence to the treatment protocols was excellent. The GRA response rate of 57% in the MPT group was significantly higher than the rate of 21% in the GTM treatment group (p=0.03). Conclusions The goals to judge feasibility of conducting a full-scale trial of physical therapy methods were met. The preliminary findings of a beneficial effect of MPT warrants further study. PMID:19535099

  8. [Nephrotic syndrome in multiple sclerosis patients who had undergone long-term interferon ?-1b therapy].

    PubMed

    Ikeda, Kensuke; Okamoto, Tomoko; Yamamura, Takashi; Ohsawa, Isao; Furutera, Rie; Murata, Miho

    2013-01-01

    A 59-year-old man (case 1) with multiple sclerosis (MS) presented with shortness of breath and general fatigue. He had been treated using interferon ?-1b (IFN?-1b) since he was 51 years of age. Laboratory test results showed hypoproteinemia and hypoalbuminemia, proteinuria, and absence of hematuria. He was diagnosed with nephrotic syndrome, and the administration of IFN?-1b was stopped. Percutaneous renal biopsy was performed, and the histology revealed membranous nephropathy. A 33-year-old woman (case 2) with MS, who had been treated using IFN?-1b for 7 years, was diagnosed with proteinuria during a medical checkup. She was referred to a nephrologist and was found to have hypoalbuminemia and proteinuria. A diagnosis of nephrotic syndrome was made, and IFN?-1b therapy was stopped. The patient underwent percutaneous renal biopsy, and the histology revealed membranous nephropathy. Both patients were treated using intravenous methylprednisolone followed by oral prednisolone. Case 1 was administered ciclosporin orally, and his clinical symptoms and laboratory test results improved at first, but his laboratory test results subsequently showed recurrence of proteinuria. Case 2 was administered mizoribine orally, resulting in improvement in clinical symptoms and laboratory test results. Case 2 showed relapse of multiple sclerosis, but the symptoms were mild and were alleviated after steroid therapy. IFN? therapy has several complications including nephropathy. Previously, several cases of nephrotic syndrome associated with IFN? within 2 years of therapy were reported, but drug-induced nephropathy could appear after several years of the therapy as our cases. We should pay attention to nephrotic syndrome under using long-term IFN?. PMID:23328061

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

    PubMed Central

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

    2013-01-01

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

  10. Pain and reduced mobility in complex regional pain syndrome I: outcome of a prospective randomised controlled clinical trial of adjuvant physical therapy versus occupational therapy

    Microsoft Academic Search

    H. Margreet Oerlemans; Rob A. B. Oostendorp; Theo de Boo; R. Jan. A. Goris

    1999-01-01

    There are no adequate comparative studies on physical therapy (PT) versus occupational therapy (OT) in patients with complex regional pain syndrome I (CRPS I). Therefore, we conducted a prospective randomised clinical trial to assess their effectiveness. The outcomes regarding reducing pain and normalising active range of motion (AROM) are discussed. Included in the study were 135 patients who had been

  11. Australian venomous jellyfish, envenomation syndromes, toxins and therapy.

    PubMed

    Tibballs, James

    2006-12-01

    The seas and oceans around Australia harbour numerous venomous jellyfish. Chironex fleckeri, the box jellyfish, is the most lethal causing rapid cardiorespiratory depression and although its venom has been characterised, its toxins remain to be identified. A moderately effective antivenom exists which is also partially effective against another chirodropid, Chiropsalmus sp. Numerous carybdeids, some unidentified, cause less severe illness, including Carybdea rastoni whose toxins CrTX-A and CrTX-B are large proteins. Carukia barnesi, another small carybdeid is one cause of the 'Irukandji' syndrome which includes delayed pain from severe muscle cramping, vomiting, anxiety, restlessness, sweating and prostration, and occasionally severe hypertension and acute cardiac failure. The syndrome is in part caused by release of catecholamines but the cause of heart failure is undefined. The venom contains a sodium channel modulator. Two species of Physalia are present and although one is potentially lethal, has not caused death in Australian waters. Other significant genera of jellyfish include Tamoya, Pelagia, Cyanea, Aurelia and Chyrosaora. PMID:16928389

  12. 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

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

    PubMed

    Cuatrecasas, Guillem

    2009-06-01

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

  14. Iron overload and chelation therapy in myelodysplastic syndromes.

    PubMed

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

    2014-07-01

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

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

    PubMed

    Zdziarski, Przemyslaw

    2015-06-01

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

  16. Update on minimally invasive therapy for chronic prostatitis/chronic pelvic pain syndrome.

    PubMed

    Kastner, Christof

    2008-07-01

    Once primary treatment fails, the diverse causes and symptoms of chronic pelvic pain syndrome require clinicians to consider several secondary approaches. Multimodal therapy addresses unique symptoms and targets illness origin. However, once medical modalities fail, minimally invasive therapies should be considered, including transurethral needle ablation hyperthermia, cooled thermotherapy, electromagnetic chair, prostatic massage, and intraprostatic botulinum toxin A injection. Low evidence levels exist for all approaches, but we anticipate promising results of larger trials for cooled thermotherapy and look forward to the emergence of experimental techniques using botulinum toxin A. PMID:18765134

  17. Metformin therapy decreases hyperandrogenism and hyperinsulinemia in women with polycystic ovary syndrome

    Microsoft Academic Search

    Beata Kolodziejczyk; Antoni J Duleba; Robert Z Spaczynski; Leszek Pawelczyk

    2000-01-01

    Objective: To evaluate the effects of 12 weeks of metformin therapy on hormonal and clinical indices in polycystic ovary syndrome (PCOS).Design: Prospective study.Setting: University hospital.Patient(s): Thirty-nine women with PCOS and fasting hyperinsulinemia.Intervention(s): Twelve weeks of therapy with oral metformin (500 mg three times per day).Main Outcome Measure(s): Levels of insulin, T, DHEAS, insulin-like growth factor-I (IGF-I), gonadotropins, and sex hormone-binding

  18. Photo-distributed neutrophilic drug eruption and adult respiratory distress syndrome associated with antidepressant therapy.

    PubMed

    Mecca, Patricia; Tobin, Ellis; Andrew Carlson, J

    2004-02-01

    Drug reactions are well-known complications of antidepressant therapy, often related to photosensitization. Herein is reported a singular case of antidepressant (amoxapine and citalopram) and anxiolytic related (perphenazine) photo-distributed neutrophilic dermatosis and adult respiratory distress syndrome (ARDS). The clinicopathologic findings displayed overlapping features with drug-induced Sweet's syndrome, acute generalized exanthematous pustulosis (AGEP), and so-called sterile neutrophilic folliculitis with perifollicular vasculopathy. Of the three medications, only amoxapine has been associated with AGEP. Treatment with high-dose systemic corticosteroids and cessation of drug therapy was followed by rapid resolution of the cutaneous eruption and respiratory distress. The possibility that neutrophil infiltration of the lung and/or accumulation of neutrophils in the skin and blood served as a source for reactive oxygen species, leading to lung injury and subsequent ARDS, is discussed. PMID:14690466

  19. Effectiveness and Limitations of b-Blocker Therapy in Congenital Long-QT Syndrome

    Microsoft Academic Search

    Arthur J. Moss; Wojciech Zareba; Peter J. Schwartz; Richard S. Crampton; Jesaia Benhorin; G. Michael Vincent; Emanuela H. Locati; Silvia G. Priori; Carlo Napolitano; Aharon Medina; Li Zhang; Jennifer L. Robinson; Katherine W. Timothy; Jeffrey A. Towbin; Mark L. Andrews

    2000-01-01

    Background— b-blockers are routinely prescribed in congenital long-QT syndrome (LQTS), but the effectiveness and limitations of b-blockers in this disorder have not been evaluated. Methods and Results—The study population comprised 869 LQTS patients treated with b-blockers. Effectiveness of b-blockers was analyzed during matched periods before and after starting b-blocker therapy, and by survivorship methods to determine factors associated with cardiac

  20. The Effect of Nutritional Therapy for Yeast Infection (Candidiasis) in Cases of Chronic Fatigue Syndrome

    Microsoft Academic Search

    Erica White; Caroline Sherlock

    The objective of this study was to evalu- ate the effectiveness of nutritional therapy for yeast infection in cases of medically-diag- nosed Chronic Fatigue Syndrome\\/ME. Forty participants, each with medically- diagnosed CFS\\/ME, received individual nu- tritional advice for treating yeast infection (candidiasis) over the course of one year, fol- lowing an anti-candida protocol which had been used successfully in nutritional

  1. Withdrawal emergent syndrome in an infant associated with maternal haloperidol therapy.

    PubMed

    Sexson, W R; Barak, Y

    1989-06-01

    Withdrawal emergent syndrome (WES) is a subtype of tardive dyskinesia that has been reported in children who were taken off antipsychotic therapy. We present the first case of WES in an infant born to a mother taking haloperidol during her pregnancy. The infant developed repeated tongue thrust, abnormal hand posturing, and tremor of all extremities. Most symptoms resolved within several days, but tongue thrust continued until 6 months of age. PMID:2738729

  2. Antibodies to GM1(NeuGc) in Guillain–Barré syndrome after ganglioside therapy

    Microsoft Academic Search

    Masaaki Odaka; Nobuhiro Yuki; Eduardo Nobile-Orazio; Marinella Carpo; Koich Hirata

    2000-01-01

    N-Glycolylneuraminic acid-containing GM1 [GM1(Gc)] is a molecule for serum antibodies in patients with Guillain–Barré syndrome (GBS). To clarify the pathogenesis of GBS after treatment with bovine brain ganglioside, we investigated the presence of anti-GM1(Gc) antibody in patients who developed GBS after ganglioside injection. Serum samples were taken from nine Italian patients with GBS after ganglioside therapy as well as from

  3. Diffuse choroidal haemangioma in Sturge–Weber syndrome treated with photodynamic therapy under general anaesthesia

    Microsoft Academic Search

    E. A. Huiskamp; R. P. H. M. Müskens; A. Ballast; J. M. M. Hooymans

    2005-01-01

    Purpose: To report the treatment outcome of photodynamic therapy with verteporfin (PDT) for exudative retinal detachment as sociated with diffuse choroidal haemangioma in Sturge-Weber syn- drome. Methods: An interventional case report of a 12-year-old girl with Sturge-Weber syndrome who devel- oped an exudative retinal detachment (visual acuity 20\\/400) that was treated with PDT under general anaesthesia. PDT was performed according

  4. Predictors of outcome following myeloablative allo-SCT for therapy-related myelodysplastic syndrome and AML

    Microsoft Academic Search

    T J Nevill; D E Hogge; C L Toze; S H Nantel; M M Power; Y R Abou Mourad; K W Song; J C Lavoie; D L Forrest; M J Barnett; J D Shepherd; J Y Nitta; S Wong; H J Sutherland; C A Smith

    2008-01-01

    Administration of alkylating agents (Alk), topoisomerase II inhibitors (Topo II) and radiotherapy (RT) can result in therapy-related myelodysplastic syndrome or acute myelogenous leukaemia (t-MDS\\/t-AML), the optimal treatment for which is allo-SCT. A retrospective review was performed of 24 patients who underwent related- or unrelated-donor SCT for t-MDS\\/t-AML at our institution. Eight patients remain alive and in continuous remission (median follow-up

  5. Post-polio syndrome: Pathophysiological hypotheses, diagnosis criteria, drug therapy.

    PubMed

    Boyer, F-C; Tiffreau, V; Rapin, A; Laffont, I; Percebois-Macadré, L; Supper, C; Novella, J-L; Yelnik, A-P

    2010-02-01

    Post-polio syndrome (PPS) refers to a clinical disorder affecting polio survivors with sequelae years after the initial polio attack. These patients report new musculoskeletal symptoms, loss of muscular strength or endurance. PPS patients are tired, in pain and experience new and unusual muscular deficits, on healthy muscles as well as deficient muscles initially affected by the Poliovirus. Once a clinical diagnosis is established, the therapeutic options can be discussed. Some pathophysiological mechanisms have been validated by research studies on PPS (inflammatory process in cerebrospinal fluid [CSF] and cytokines of the immune system). Several studies have been conducted to validate medications (pyridostigmine, immunoglobulin, coenzyme Q10) or physical exercises protocols. This article focuses on the relevance and efficacy that can be expected from these therapeutics. Very few studies reported some improvements. Medications combined to individual and supervised exercise training programs are promising therapeutic strategies for PPS patients care management. PMID:20093102

  6. 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, ?-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

  7. BIOLOGIE CELLULAIRE : ORGANISATION ET FONCTIONS DE LA CELLULE ; PATHOGE`NES

    E-print Network

    van Tiggelen, Bart

    23 BIOLOGIE CELLULAIRE : ORGANISATION ET FONCTIONS DE LA CELLULE ; PATHOGE`NES ET RELATIONS HO^ TES/PATHOGE`NES prions) en conditions patho- ge`nes ou pas, ­ relations ho^tes-agents infectieux : trans- mission

  8. [Midocalm in complex therapy of chronic low back pain syndrome].

    PubMed

    Chernysheva, T V; Bagirova, G G

    2005-01-01

    The aim of the study was to determine whether application of midocalm is appropriate in patients with chronic low back pain (LBP) from the point of view of quality of life (QL), efficacy and tolerance. The subjects were 50 patients with chronic LBP associated with spinal osteochondrosis, who underwent clinical examination and were questioned using four QL questionnaires: Health Assessment Questionnaire (HAQ), Womac osteoarthritis index Womac osteoarthritis index, Oswestry Low Back Pain Disability Questionnaire, and The 36-Item Short-Form Health Survey (SF-36). The subjects were divided into two groups. The 25 patients of Group I were administered nise in a dose of 100 mg twice a day during 10 days, the 25 patients of Group II--nise in a dose of 100 mg twice a day plus midocalm in a dose of 150 mg per day during the first two days and 450 mg per day from the third day through the tenth day. The study showed high efficacy of midocalm in complex therapy of patients with chronic LBP, as well as low rate of adverse reactions and high treatment tolerance. QL of the patients improved. Combining midocalm therapy with nise allows quicker positive effect in patients with chronic LBP and lowers need for long application of non-steroid antiinflammatory drugs. PMID:16404939

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

    PubMed Central

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

    2013-01-01

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

  10. Heightened efficacy of nitric oxide-based therapies in type II diabetes mellitus and metabolic syndrome

    PubMed Central

    Ahanchi, Sadaf S.; Varu, Vinit N.; Tsihlis, Nick D.; Martinez, Janet; Pearce, Charles G.; Kapadia, Muneera R.; Jiang, Qun; Saavedra, Joseph E.; Keefer, Larry K.; Hrabie, Joseph A.; Kibbe, Melina R.

    2008-01-01

    Type II diabetes mellitus (DM) and metabolic syndrome are associated with accelerated restenosis following vascular interventions due to neointimal hyperplasia. The efficacy of nitric oxide (NO)-based therapies is unknown in these environments. Therefore, the aim of this study is to examine the efficacy of NO in preventing neointimal hyperplasia in animal models of type II DM and metabolic syndrome and examine possible mechanisms for differences in outcomes. Aortic vascular smooth muscle cells (VSMC) were harvested from rodent models of type II DM (Zucker diabetic fatty), metabolic syndrome (obese Zucker), and their genetic control (lean Zucker). Interestingly, NO inhibited proliferation and induced G0/G1 cell cycle arrest to the greatest extent in VSMC from rodent models of metabolic syndrome and type II DM compared with controls. This heightened efficacy was associated with increased expression of cyclin-dependent kinase inhibitor p21, but not p27. Using the rat carotid artery injury model to assess the efficacy of NO in vivo, we found that the NO donor PROLI/NO inhibited neointimal hyperplasia to the greatest extent in type II DM rodents, followed by metabolic syndrome, then controls. Increased neointimal hyperplasia correlated with increased reactive oxygen species (ROS) production, as demonstrated by dihydroethidium staining, and NO inhibited this increase most in metabolic syndrome and DM. In conclusion, NO was surprisingly a more effective inhibitor of neointimal hyperplasia following arterial injury in type II DM and metabolic syndrome vs. control. This heightened efficacy may be secondary to greater inhibition of VSMC proliferation through cell cycle arrest and regulation of ROS expression, in addition to other possible unidentified mechanisms that deserve further exploration. PMID:18931034

  11. Meconium aspiration syndrome: possible pathophysiological mechanisms and future potential therapies.

    PubMed

    Lindenskov, Paal Helge Haakonsen; Castellheim, Albert; Saugstad, Ola Didrik; Mollnes, Tom Eirik

    2015-01-01

    Does meconium cause meconium aspiration syndrome (MAS) or is meconium discharge only a marker of fetal hypoxia? This dispute has lasted for centuries, but since the 1960s, detrimental effects of meconium itself on the lungs have been demonstrated in animal experiments. In clinical MAS, persistent pulmonary hypertension of the newborn is the leading cause of death in MAS. Regarding the complex chemical composition of meconium, it is difficult to identify a single agent responsible for the pathophysiology. However, considering that meconium is stored in the intestines, partly unexposed to the immune system, aspirated meconium could be recognized as ‘danger', representing damaged self. The common denominator in the pathophysiology could therefore be activation of innate immunity. Thus, a bulk of evidence implies that meconium is a potent activator of inflammatory mediators, including cytokines, complement, prostaglandins and reactive oxygen species. We hypothesize that the two main recognition systems of innate immunity, the Toll-like receptors and the complement system, recognize meconium as ‘danger', which leads not only to lung dysfunction but also to a systemic inflammatory response. This might have therapeutic implications in the future. PMID:25721501

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

    PubMed

    Bizzarri, M; Carlomagno, G

    2014-07-01

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

  13. An update on stem cell therapies for acute coronary syndrome.

    PubMed

    Psaltis, Peter J; Spoon, Daniel B; Wong, Dennis T L; Gulati, Rajiv

    2014-09-01

    Well into the second decade since its conception, cell transplantation continues to undergo intensive evaluation for the treatment of myocardial infarction. At a mechanistic level, its objectives remain to replace lost cardiac cell mass with new functioning cardiomyocytes and vascular cells, thereby minimizing infarct size and scar formation, and improving clinical outcomes by preventing adverse left ventricular remodeling and recurrent ischemic events. Many different cell types, including pluripotent stem cells and various adult-derived progenitor cells, have been shown to have therapeutic potential in preclinical studies, while early phase human trial experience has provided divergent outcomes and fundamental lessons, emphasizing that there remain key issues to address and challenges to overcome before cell therapy can be applied to wider clinical practice. The purpose of this review is to provide a balanced update on recent seminal developments in this exciting field and look to the next important steps to ensure its forward progression. PMID:25073868

  14. Combination therapy of ursodeoxycholic acid and budesonide for PBC–AIH overlap syndrome: a meta-analysis

    PubMed Central

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

    2015-01-01

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

  15. Toward resolving the unsettled role of iron chelation therapy in myelodysplastic syndromes.

    PubMed

    Merkel, Drorit G; Nagler, Arnon

    2014-07-01

    Transfusion dependent low risk myelodysplastic syndromes (MDS) patients, eventually develop iron overload. Iron toxicity, via oxidative stress, can damage cellular components and impact organ function. In thalassemia major patients, iron chelation therapy lowered iron levels with recovery of cardiac and liver functions and significant improvement in survival. Several noncontrolled studies show inferior survival in MDS patients with iron overload, including an increase in transplant-related mortality and infection risk while iron chelation appears to improve survival in both lower risk MDS patients and in stem cell transplant settings. Collated data are presented on the pathophysiological impact of iron overload; measuring techniques and chelating agents' therapy positive impact on hematological status and overall survival are discussed. Although suggested by retrospective analyses, the lack of clear prospective data of the beneficial effects of iron chelation on morbidity and survival, the role of iron chelation therapy in MDS patients remains controversial. PMID:24641787

  16. Family cognitive behaviour therapy for chronic fatigue syndrome: an uncontrolled study

    PubMed Central

    Chalder, T; Tong, J; Deary, V

    2002-01-01

    Aim: To examine the efficacy of family focused cognitive behaviour therapy for 11–18 year olds with chronic fatigue syndrome. Methods: Twenty three patients were offered family focused cognitive behaviour therapy. The main outcome was a fatigue score of less than 4 and attendance at school 75% of the time. Results: Twenty patients completed treatment. Eighteen had completed all measures at six months follow up; 15 of these (83%) improved according to our predetermined criterion. Substantial improvements in social adjustment, depression, and fear were noted. Conclusions: Family focused cognitive behaviour therapy was effective in improving functioning and reducing fatigue in 11–18 year olds. Gains were maintained at six months follow up. PMID:11827901

  17. Metabolic syndrome in chronic hepatitis C infection: does it still matter in the era of directly acting antiviral therapy?

    PubMed Central

    Lim, TR

    2014-01-01

    Metabolic syndrome is prevalent in patients with hepatitis C virus (HCV) infection. Given the pandemic spread of HCV infection and metabolic syndrome, the burden of their interaction is a major public health issue. The presence of metabolic syndrome accelerates the progression of liver disease in patients with HCV infection. New drug development in HCV has seen an unprecedented rise in the last year, which resulted in better efficacy, better tolerance, and a shorter treatment duration. This review describes the underlying mechanisms and clinical effects of metabolic syndrome in HCV infection, as well as their importance in the era of new directly acting antiviral therapy. PMID:25506251

  18. 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

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

    PubMed

    András, Csaba D; Albert, Csilla; Salamon, Szidónia; Gálicza, Judit; András, Réka; András, Emil

    2011-10-10

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

  20. 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

  1. Transient gene therapy to treat cutaneous radiation syndrome: development in a minipig model.

    PubMed

    Riccobono, Diane; Forcheron, Fabien; Agay, Diane; Scherthan, Harry; Meineke, Viktor; Drouet, Michel

    2014-06-01

    Cutaneous radiation syndrome is the delayed consequence of localized skin exposure to high doses of ionizing radiation. Adipocyte derived stem cells injection may improve tissue regeneration through secreted factors. Thus mesenchymal stem cells secretome optimization, using transient transfection, may represent a new strategy to treat this syndrome. Sonic hedgehog, a secreted protein involved in cell proliferation and angiogenesis, has been chosen as a first candidate. Here preliminary results are reported of the therapeutic potential of transient gene therapy to cure cutaneous radiation syndrome in a minipig model. Adipocyte derived stem cells were transiently transfected by electroporation with a plasmid coding for Sonic Hedgehog. Göttingen minipigs were locally irradiated using a (60)Co gamma source at the dose of 50 Gy and received Phosphate Buffer Salin (controls: n = 8), stem cells (50 × 10? each time, n = 5) or transfected stem cells (25±7 × 10? each time, n = 1). All controls exhibited a homogeneous clinical evolution of cutaneous radiation syndrome with final necrosis (day 91). In stem cell injected minipigs, an ultimate wound healing was observed in four out of five grafted animals (day 130 ± 28, complete in two of them) (historical results). The Sonic hedgehog animal, albeit injected with a lower number of transfected stem cells, presented a very similar evolution of skin healing without necrosis or uncontrolble pain. Globally this preliminary report suggests that local injection of Sonic Hedgehog transfected adipocyte derived stem cells may improve wound healing. Thus work is ongoing to evaluate this therapeutic strategy on a larger number of animals. PMID:24776904

  2. Managing Cytokine Release Syndrome Associated With Novel T Cell-Engaging Therapies

    PubMed Central

    Maude, Shannon L.; Barrett, David; Teachey, David T.; Grupp, Stephan A.

    2014-01-01

    Chimeric antigen receptor (CAR)-modified T cells and bispecific T cell–engaging antibodies have demonstrated dramatic clinical responses in recent clinical trials. The hallmark of these novel highly active immunotherapies is nonphysiologic T cell activation, which has correlated not only with greatly increased efficacy but also with notable toxicity in some cases. We and others have observed a cytokine release syndrome (CRS), which correlates with both toxicity and efficacy in patients receiving T cell–engaging therapies. In addition to elevations in effector cytokines, such as interferon-?, cytokines associated with hemophagocytic lymphohistiocytosis or macrophage activation syndrome, such as interleukin (IL)-10 and IL-6, may also be markedly elevated. Whereas corticosteroids may control some of these toxicities, their potential to block T cell activation and abrogate clinical benefit is a concern. Detailed studies of T cell proliferation and the resultant immune activation produced by these novel therapies have led to more targeted approaches that have the potential to provide superior toxicity control without compromising efficacy. One approach we have developed targets IL-6, a prominent cytokine in CRS, using the IL-6R antagonist tocilizumab. We will review the pathophysiology and management options for CRS associated with T cell–engaging therapies. PMID:24667956

  3. Delayed Onset of Acute Limb Compartment Syndrome With Neuropathy After Venoarterial Extracorporeal Membrane Oxygenation Therapy

    PubMed Central

    Go, Jin Young; Min, Yu-Sun

    2014-01-01

    Acute limb compartment syndrome (ALCS) is defined as compound symptoms resulting from poor oxygenation and decreased nutrition supply to muscles and nerves in a tightly confined compartment. The most common cause of ALCS is tibia fracture, followed by blunt trauma to soft tissue. However, non-traumatic causes are rare. We report an iatrogenic, non-traumatic ALCS case after venoarterial extracorporeal membrane oxygen (VA-ECMO) therapy. A 14-year-old male received VA-ECMO therapy due to cardiorespiratory failure after drowning. Although he had no symptoms during therapy, leg swelling appeared 10 hours after ECMO treatment. Two days after the leg swelling, the patient underwent a fasciotomy. Unfortunately, nerve conduction studies and electromyography showed multiple neuropathies in the lower leg. Despite 2 weeks of rehabilitation with electrical stimulation, an exercise program, and physical therapy, there was no definite change in muscle strength. To our knowledge, this is the first reported case of non-traumatic ALCS after VA-ECMO therapy in Korea. PMID:25229039

  4. Targeted Therapy with Rituximab in Felty’s Syndrome: A Case Report

    PubMed Central

    Heylen, Line; Dierickx, Daan; Vandenberghe, Peter; Westhovens, René

    2012-01-01

    Felty’s syndrome is a rare, severe extra-articular manifestation of rheumatoid arthritis (RA). There is no standard therapy, and several disease-modifying antirheumatic drugs have been used with varying success. Only very few reports exist in literature on the use of biologicals in this indication and this with a variable efficacy. We report the case of a 53-year-old woman with severe refractory/partly undertreated RA who presented with Felty’s syndrome and pancytopenia, in whom treatment with rituximab led to an marked increase of red blood cells, neutrophils and thrombocytes. In addition, the RA disease activity status improved dramatically and treatment with steroids could be reduced. The current sparse literature on this topic is reviewed. PMID:23198005

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

    PubMed Central

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

    1990-01-01

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

  6. Neurofeedback therapy in patients with non pain syndromes of chronic and paroxysmal character-literature review and own experience.

    PubMed

    Kubik, Alicja; Kaci?ski, Marek

    2013-01-01

    Neurofeedback has been used in treatment of many other than pain clinical syndromes. This group includes chronic as well as paroxysmal syndromes previously treated pharmacologically. However due to non satisfactory results of this treatment introduction of non-pharmacological therapy has been examined. Observations from our 9-year experience of neurofeedback therapy used in children and adult patients with epilepsy, Asperger syndrome, depression, neurosis, personality disorders, drug addiction and other (not pain) syndromes have been presented in this paper. Positive influence of neurofeedback therapy on symptoms intensity, frequency, duration and social relations of treated patients has been confirmed by our own and other authors observations. Neurofeedback therapy has been tried by patients with other difficult life problems and has been effective in some of them. The effectiveness of the therapy has been confirmed by patients, their relatives and also by neurophysiological results. Additionally, preliminary results of neurofeedback therapy used in management of computer addiction in children and adolescents have been presented herein. PMID:24697041

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

    PubMed

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

    2009-02-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2014-02-01

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

  9. [ANMCO/SICI-GISE document on antiplatelet therapy in patients with acute coronary syndrome].

    PubMed

    De Luca, Leonardo; Bolognese, Leonardo; Valgimigli, Marco; Ceravolo, Roberto; Danzi, Gian Battista; Piccaluga, Emanuela; Rakar, Serena; Cremonesi, Alberto; Bovenzi, Francesco Maria

    2013-12-01

    Antiplatelet therapy is the cornerstone of the pharmacologic management of patients with acute coronary syndrome (ACS). Over the last years, several studies have evaluated old and new oral or intravenous antiplatelet agents in ACS patients. In particular, research was focused on assessing superiority of two novel platelet ADP P2Y12 receptor antagonists (i.e., prasugrel and ticagrelor) over clopidogrel. Several large randomized controlled trials have been undertaken in this setting and a wide variety of prespecified and post-hoc analyses are available that evaluated the potential benefits of novel antiplatelet therapies in different subsets of patients with ACS. The aim of this document is to review recent data on the use of current antiplatelet agents for in-hospital treatment of ACS patients. For each drug or class of drugs, strong evidence and/or areas of uncertainty that warrant further research are highlighted by examining 10 subgroups of patients with ACS. PMID:24336601

  10. The combination therapy of prednisolone and tacrolimus for severe painful bladder syndrome/interstitial cystitis

    PubMed Central

    Kaneko, Gou; Nishimoto, Koshiro; Ito, Yujiro; Uchida, Atsushi

    2012-01-01

    A 47-year-old woman visited our hospital with complaints of frequent urination and intensive pelvic pain. Painful bladder syndrome/interstitial cystitis (PBS/IC) was suspected based on her symptoms. Hydrodistention was performed, and crack and petechial hemorrhage were found, and she was treated with tricyclic antidepressants and antihistamine. However, these treatments were ineffective. An allergy or autoimmune reaction was suspected as the pathogenesis due to eosinophilia and elevation of serum IgE levels. The patient was then treated with immunosuppressive agents. Although her symptoms were not sufficiently improved by single-agent therapy with prednisolone or tacrolimus, they were completely improved by their combined administration. This is the first case to report the effectiveness of combination therapy consisting of prednisolone and tacrolimus to treat PBS/IC. PMID:22511431

  11. Effectiveness of hand therapy interventions in primary management of carpal tunnel syndrome: a systematic review.

    PubMed

    Muller, Monique; Tsui, Deborah; Schnurr, Ronda; Biddulph-Deisroth, Lori; Hard, Julie; MacDermid, Joy C

    2004-01-01

    The purpose of this study was to determine the effectiveness of hand therapy interventions for carpal tunnel syndrome (CTS) based on the best available evidence. A qualitative systematic review was conducted. A literature search using 40 key terms was conducted from the earliest available date to January 2003 using seven databases. Articles were randomly assigned to two of five reviewers and evaluated according to predetermined criteria for inclusion at each of the title, abstract, and article levels. Included studies were independently scored by two reviewers using a structured effectiveness quality evaluation scale and also graded according to Sackett's Levels of Evidence. There were 2027 articles identified from the literature search, of which 345 met the inclusion criteria. Twenty-four studies were used to formulate 30 recommendations. Current evidence demonstrates a significant benefit (grade B recommendations) from splinting, ultrasound, nerve gliding exercises, carpal bone mobilization, magnetic therapy, and yoga for people with CTS. PMID:15162107

  12. Intrathecal baclofen therapy after liver transplant in a patient with Crigler-Najjar syndrome.

    PubMed

    Pratini, Napala R; Neufeld, Jacob A

    2014-02-01

    Crigler-Najjar syndrome (CNS) is described as severe infantile, nonhemolytic, unconjugated hyperbilirubinemia and is divided into type I and type II according to the patient's response to phenobarbital treatment. Patients with type I CNS usually require a liver transplant. These patients often have spasticity and dystonia, both of which can be treated with intrathecal baclofen therapy. We present the case of a patient with CNS type I who underwent a liver transplant followed years later by intrathecal baclofen therapy. To our knowledge, this article provides the first report of a patient with CNS being treated for dystonia with an intrathecal baclofen pump. Despite his complicated history, this patient has remained medically stable after both interventions. PMID:24365780

  13. [The potential use of cannabidiol in the therapy of metabolic syndrome].

    PubMed

    Kleiner, Dénes; Ditrói, Kálmán

    2012-04-01

    Cannabidiol, a cannabinoid and serotonin receptor antagonist, may alleviate hyperphagia without the side effects of rimonabant (for example depression and reduced insulin sensitivity). Similar to the peroxisome proliferator-activated receptor-gamma agonists, it may also help the differentation of adipocytes. Cannabidiol has an immunomodulating effect, as well, that helps lessen the progression of atherosclerosis induced by high glucose level. It may also be effective in fighting ischaemic diseases, the most harmful complications of metabolic syndrome. However, it can only be administered as an adjuvant therapy because of its low binding potency, and its inhibiting effect of cytochrome P450 enzymes should also be considered. Nevertheless, it may be beneficially used in adjuvant therapy because of its few side effects. PMID:22430005

  14. Simultaneous intrahepatic and subgaleal hemorrhage in antiphospholipid syndrome following anticoagulation therapy

    PubMed Central

    Park, In-Chul; Baek, Yang-Hyun; Han, Sang-Young; Lee, Sung-Wook; Chung, Won-Tae; Lee, Sung-Won; Kang, Sang-Hyeon; Cho, Duk-Song

    2013-01-01

    Warfarin is a widely used anticoagulant. Interindividual differences in drug response, a narrow therapeutic range and the risk of bleeding render warfarin difficult to use clinically. An 18-year-old woman with antiphospholipid syndrome received long-term warfarin therapy for a recurrent deep vein thrombosis. Six years later, she developed right flank pain. We diagnosed intrahepatic and subgaleal hemorrhages secondary to anticoagulation therapy. After stopping oral anticoagulation, a follow-up computed tomography showed improvement in the hemorrhage. After restarting warfarin because of a recurrent thrombosis, the intrahepatic hemorrhage recurred. We decided to start clopidogrel and hydroxychloroquine instead of warfarin. The patient has not developed further recurrent thrombotic or bleeding episodes. Intrahepatic hemorrhage is a very rare complication of warfarin, and our patient experienced intrahepatic and subgaleal hemorrhage although she did not have any risk factors for bleeding or instability of the international normalized ratio control. PMID:24151371

  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. Opsoclonus-myoclonus in an HIV-infected child on antiretroviral therapy—possible immune reconstitution inflammatory syndrome

    Microsoft Academic Search

    Ronald van Toorn; Helena Rabie; James M. Warwick

    2005-01-01

    The exact immunopathogenesis and neuroanatomical localization of opsoclonus-myoclonus ataxia syndrome remains unclear. We describe a 1 year 9 month old girl who, shortly after commencement of highly active antiretroviral therapy developed opsoclonus-myoclonus syndrome and subsequently died of disseminated cytomegalovirus infection. We postulate on the etiological factors that may have played a role in the disease pathogenesis of the patient's opsoclonus-myoclonus

  17. Utilization of and Adherence to Guideline-Recommended Lipid-Lowering Therapy After Acute Coronary Syndrome: Opportunities for Improvement.

    PubMed

    Hirsh, Benjamin J; Smilowitz, Nathaniel R; Rosenson, Robert S; Fuster, Valentin; Sperling, Laurence S

    2015-07-14

    In addition to aggressive lifestyle and nonlipid risk factor modification, statin therapy improves cardiovascular disease outcomes following acute coronary syndromes. Despite established benefits of treatment, contemporary registries reveal substantial underutilization of and nonadherence to statin therapy for secondary prevention. In randomized controlled trials investigating statin therapy, including moderate-intensity statin plus ezetimibe therapy, rates of nonadherence are reported in up to 40% of subjects. Durable strategies to address gaps in lipid lowering for secondary prevention are essential to maximize reduction in cardiovascular disease risk. PMID:26160634

  18. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome.

    PubMed Central

    Crawley, A C; Brooks, D A; Muller, V J; Petersen, B A; Isaac, E L; Bielicki, J; King, B M; Boulter, C D; Moore, A J; Fazzalari, N L; Anson, D S; Byers, S; Hopwood, J J

    1996-01-01

    We report studies that suggest enzyme replacement therapy will result in a significant reduction in disease progression and tissue pathology in patients with Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI, MPS VI). A feline model for MPS VI was used to evaluate tissue distribution and clinical efficacy of three forms of recombinant human N-acetylgalactosamine-4-sulfatase (rh4S, EC 3.1.6.1). Intravenously administered rh4S was rapidly cleared from circulation. The majority of rh4S was distributed to liver, but was also detected in most other tissues. Tissue half-life was approximately 2-4 d. Three MPS VI cats given regular intravenous infusions of rh4S for up to 20 mo showed variable reduction of storage vacuoles in Kupffer cells and connective tissues, however cartilage chondrocytes remained vacuolated. Vertebral bone mineral volume was improved in two MPS VI cats in which therapy was initiated before skeletal maturity, and increased bone volume appeared to correlate with earlier age of onset of therapy. One cat showed greater mobility in response to therapy. PMID:8621770

  19. Cognitive behaviour therapy in addition to antispasmodic treatment for irritable bowel syndrome in primary care: randomised controlled trial

    PubMed Central

    Kennedy, Tom; Jones, Roger; Darnley, Simon; Seed, Paul; Wessely, Simon; Chalder, Trudie

    2005-01-01

    Objective To assess the efficacy of cognitive behaviour therapy delivered in primary care for treating irritable bowel syndrome. Design Randomised controlled trial. Setting 10 general practices in London. Participants 149 patients with moderate or severe irritable bowel syndrome resistant to the antispasmodic mebeverine. Interventions Cognitive behaviour therapy delivered by trained primary care nurses plus 270 mg mebeverine taken thrice daily compared with mebeverine treatment alone. Main outcome measures Primary measures were patients' scores on the irritable bowel syndrome symptom severity scale. Secondary measures were scores on the work and social adjustment scale and the hospital anxiety and depression scale. Results Of 334 referred patients, 72 were randomised to mebeverine plus cognitive behaviour therapy and 77 to mebeverine alone. Cognitive behaviour therapy had considerable initial benefit on symptom severity compared with mebeverine alone, with a mean reduction in score of 68 points (95% confidence interval 103 to 33), with the benefit persisting at three months and six months after therapy (mean reductions 71 points (109 to 32) and 11 points (20 to 3)) but not later. Cognitive behaviour therapy also showed significant benefit on the work and social adjustment scale that was still present 12 months after therapy (mean reduction 2.8 points (5.2 to 0.4)), but had an inconsistent effect on the hospital anxiety and depression scale. Conclusion Cognitive behaviour therapy delivered by primary care nurses offered additional benefit over mebeverine alone up to six months, although the effect had waned by 12 months. Such therapy may be useful for certain patients with irritable bowel syndrome in primary care. PMID:16093252

  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, ?brahim; Kaba, Sultan; A?engin, Kemal; Tuncer, O?uz

    2015-01-01

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

  1. Choroidal thickness changes with photodynamic therapy for a diffuse choroidal hemangioma in Sturge–Weber syndrome.

    PubMed

    Cacciamani, Andrea; Scarinci, Fabio; Parravano, Mariacristina; Giorno, Paola; Varano, Monica

    2014-10-01

    The aim of this study was to evaluate the choroidal thickness (CT) changes associated with visual function following photodynamic therapy (PDT) for a diffuse choroidal hemangioma in Sturge–Weber syndrome. We report a case of Sturge–Weber syndrome and symptomatic serous retinal detachment (SRD) with diffuse choroidal hemangioma treated with PDT. Visual acuity (VA), macular sensitivity measured by means of MP1 microperimeter (Nidek Technologies, Padova, Italy), retinal and CT, measured by means of enhanced depth optical coherence tomography (EDI–OCT, Spectralis, Heidelberg Engineering, Heidelberg, Germany) were analyzed at baseline, 3 and 12 months follow-up.After the PDT VA and macular sensitivity improved.The OCT examination showed the resolution of SRD. The choroid was measured after PDT using EDI–OCT. At baseline, the subfoveal CT showed a progressive thickness reduction from 251 to 83 lm during follow-up. To our knowledge, this is the first report of CT changes after PDT for a diffuse choroidal hemangioma in Sturge–Weber syndrome in a longterm follow-up. The CT measurement represents a potential parameter to better follow choroidal hemangiomas and their response to treatment. However,the long-term choroidal changes should be carefully taken into account. PMID:24658736

  2. Metformin therapy improves ovulatory rates, cervical scores, and pregnancy rates in clomiphene citrate-resistant women with polycystic ovary syndrome

    Microsoft Academic Search

    Müberra Kocak; Eray Caliskan; Coskun Simsir; Ali Haberal

    2002-01-01

    Objective: To evaluate the effect of metformin therapy on hyperandrogenism, insulin resistance, cervical scores, ovulation, and pregnancy rates in clomiphene citrate-resistant women with polycystic ovary syndrome (PCOS).Design: Prospective, randomized, double-blind, placebo-controlled study.Setting: Infertility clinic of a tertiary referral center.Patient(s): Fifty-six women with clomiphene citrate-resistant PCOS.Intervention(s): Two cycles of oral metformin therapy (850 mg, twice daily) in group I and placebo

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

    PubMed Central

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

    2012-01-01

    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

  4. Chinese herbal extracts (SK0506) as a potential candidate for the therapy of the metabolic syndrome.

    PubMed

    Tan, Yi; Kamal, Mohammad A; Wang, Zheng-Zhong; Xiao, Wei; Seale, John P; Qu, Xianqin

    2011-04-01

    The metabolic syndrome has reached epidemic proportions worldwide, but currently there is a lack of effective therapies for this multifactorial endocrine disease. TCM (traditional Chinese medicine) has been utilized to treat a wide variety of diseases for centuries in the People's Republic of China, subsequently becoming a promising source for the development of new therapeutic agents. Chinese medicinal herbs Gynostemma pentaphyllum, Coptis chinensis and Salvia miltiorrhiza have been shown to have anti-atherosclerotic and antidiabetic properties. In this study, we have investigated the metabolic effects of a mixture of these three herbal extracts (SK0506) in a rodent model of the metabolic syndrome induced by an HFD (high-fat diet). SD (Sprague-Dawley) rats that were fed on an HFD for 4 weeks gained 33% more weight compared with chow-fed rats (P<0.05). Four weeks treatment with SK0506 prevented weight gain with decreased visceral fat (P<0.01 compared with vehicle treatment). SK0506 also significantly reduced plasma triacylglycerols (triglycerides), NEFAs (non-esterified fatty acids) and cholesterol. SK0506 exerted similar effects to RSG (rosiglitazone) on impaired glucose intolerance. SK0506 also significantly enhanced glucose uptake and glycogen synthesis in adipose tissue during hyperinsulinaemic-euglycaemic clamp. Western blotting analysis revealed that SK0506 enhanced GLUT4 (glucose transporter 4) expression in adipose tissue, and RSG markedly up-regulated GLUT4 translocation in skeletal muscle. Overall, the present study has discovered that SK0506 can reverse several components of the metabolic syndrome primarily through acting on hyperlipidaemia and visceral obesity. The results from the present study suggest that it is worthwhile to conduct a randomized clinical trial to confirm the potential that SK0506 may be a new oral agent for treating the metabolic syndrome and preventing Type 2 diabetes. PMID:20950275

  5. 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

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

    PubMed Central

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

    2013-01-01

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

  7. 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

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

    Microsoft Academic Search

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

    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

  9. Prospective assessment of effects on iron-overload parameters of deferasirox therapy in patients with myelodysplastic syndromes

    Microsoft Academic Search

    Peter L. Greenberg; Charles A. Koller; Z. Ioav Cabantchik; Ghulam Warsi; Tara Glynos; Carole Paley; Charles Schiffer

    2010-01-01

    We report the first prospective study evaluating the effects of deferasirox on liver iron concentration (LIC), labile plasma iron (LPI) and pharmacokinetics (PK) along with serum ferritin values in patients with IPSS Low- and Intermediate-1 risk myelodysplastic syndromes (MDS) and evidence of iron overload. Twenty-four heavily transfused MDS patients were enrolled in a planned 52 weeks of therapy. PK studies

  10. 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

  11. 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

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

    PubMed

    Noonan, Jacqueline A; Kappelgaard, Anne-Marie

    2015-01-01

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

  13. 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

  14. Exposure and mindfulness based therapy for irritable bowel syndrome--an open pilot study.

    PubMed

    Ljótsson, Brjánn; Andréewitch, Sergej; Hedman, Erik; Rück, Christian; Andersson, Gerhard; Lindefors, Nils

    2010-09-01

    We conducted a study of a group therapy based on exposure and mindfulness in the treatment of irritable bowel syndrome (IBS). Out of 49 outpatients, most of whom were referred from gastroenterological clinics, 34 entered into the 10-week treatment. Patients were assessed before, immediately after and 6 months after treatment. The assessments consisted of a gastrointestinal symptom diary, self-report questionnaires covering quality of life, gastrointestinal specific anxiety, general functioning, and a psychiatric interview. At post-treatment, the mean reduction in symptoms was 41% and 50% of patients showed clinically significant improvement in symptom level. Patients also showed marked improvement on other outcome measures. Treatment gains were maintained at follow-up. The results support the use of exposure and mindfulness based strategies in the treatment of IBS, but further randomised studies are needed to confirm the efficacy of the treatment. PMID:20079485

  15. Photodynamic therapy for diffuse choroidal hemangioma in sturge-weber syndrome.

    PubMed

    Monteiro, Sílvia; Casal, Inęs; Santos, Marinho; Meireles, Angelina

    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

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

    PubMed Central

    Monteiro, Sílvia; Casal, Inęs; 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

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

    PubMed Central

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

    2014-01-01

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

  18. Clobazam as an adjunctive therapy in treating seizures associated with Lennox–Gastaut syndrome

    PubMed Central

    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 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

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

    PubMed Central

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

    2014-01-01

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

  20. UNIVERSIT D'ANGERS Anne 2007 IRM CELLULAIRE DE LYMPHOCYTES MARQUES PAR

    E-print Network

    Paris-Sud XI, Université de

    UNIVERSITÉ D'ANGERS Année 2007 N° 827 IRM CELLULAIRE DE LYMPHOCYTES MARQUES PAR DES NANOPARTICULES médicale ÉCOLE DOCTORALE D'ANGERS Présentée et soutenue publiquement Le 6 juillet 2007 A Angers Par Pierre Mowat Devant le jury ci-dessous : Pr. Jean-Jacques Le Jeune (Directeur de thčse), PU-PH Université d'Angers

  1. Journes Automates Cellulaires 2008 (Uzs), pp. 216-227 TOPOLOGICAL PROPERTIES OF SAND AUTOMATA

    E-print Network

    Paris-Sud XI, Université de

    Journées Automates Cellulaires 2008 (Uzčs), pp. 216-227 TOPOLOGICAL PROPERTIES OF SAND AUTOMATA.masson@lif.univ-mrs.fr Abstract. In this paper, we exhibit a strong relation between the sand automata con- figuration space and the cellular automata configuration space. This relation induces a compact topology for sand automata

  2. A severe course of Cronkhite-Canada syndrome and the review of clinical features and therapy in 49 Chinese patients.

    PubMed

    She, Qiang; Jiang, Jian-Xia; Si, Xin-Min; Tian, Xue-Ying; Shi, Rui-Hua; Zhang, Guo-Xin

    2013-01-01

    We describe a severe case of Cronkhite-Canada syndrome and review the clinical features and therapy in 49 Chinese patients. A 67-year-old man who underwent severe chronic diarrhea had typical clinical manifestations of hyperpigmentation, hair loss, and dystrophic changes in the fingernails. Although sufficient nutrition support and other therapies reported in the literature were provided, the patient died of systemic failure one year later. Cronkhite-Canada syndrome is characterized by generalized gastrointestinal polyps associated with hyperpigmentation, hair loss, and onycholysis. Anemia, positive stool occult blood, serum electrolyte disturbances, and low serum proteins are the main clinical features of patients with Cronkhite-Canada syndrome. Most patients were diagnosed by esophagogastroduodenoscopy and/or colonoscopy, and polyps were found in the entire alimentary tract, except the notable exception of the esophagus. The polyp-like samples of mucosa, hyperplasia, and adenoma were characterized by acute/chronic inflammation. Four cases were complicated with cancer. The treatment of Cronkhite-Canada syndrome includes symptomatic and support therapy, administration of corticosteroids, antibiotics and acid inhibitors, therapeutic endoscopy, and surgery. While the mortality rate was reported as 47.3% (9/19), some patients may live a long life with controlled symptoms. PMID:24226722

  3. Physical therapy outcomes for patients receiving worker's compensation following treatment for herniated lumbar disc and mechanical low back pain syndrome.

    PubMed

    Di Fabio, R P; Mackey, G; Holte, J B

    1996-03-01

    Outcome of physical therapy for patients receiving workers' compensation may be related to a variety of factors, including the presence or absence of herniated lumbar intervertebral disc. The purpose of this study was to determine the level of disability, physical impairment, and rate of return-to-work for patients with disc disease and for those with mechanical low back pain syndrome without evidence of disc lesion. Twenty patients with disc disease and 22 patients with mechanical low back pain syndrome participated in this study. Physical therapy consisted of multiple interventions, including manual therapy based on the pattern of motion-provoked symptoms. The Oswestry disability questionnaire, fingertip-to-floor distance, and maximum pain-free isometric static lift were measured at the initial evaluation, 1 month following the initial assessment, and at discharge from the clinic. Patients with disc disease did not show significant improvement in the mean Oswestry score or in forward bending, but did show increased static lift capacity. In contrast, patients with mechanical low back pain syndrome had a significant reduction in disability and significant improvements in fingertip-to-floor distance and maximum pain-free isometric static lift. At the time of discharge, 90% of the patients followed with mechanical low back pain syndrome returned to work in some capacity compared with 45% of the patients followed with disc disease. A physical therapy program with multiple interventions that includes treatment based on the pattern of motion-provoked symptoms appears to have the greatest benefit for patients with mechanical low back pain syndrome. PMID:8919396

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

    PubMed Central

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

    2015-01-01

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

  5. 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

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

    PubMed

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

    2015-08-01

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

  7. Conventional insulin vs insulin infusion therapy in acute coronary syndrome diabetic patients

    PubMed Central

    Arvia, Caterina; Siciliano, Valeria; Chatzianagnostou, Kyriazoula; Laws, Gillian; Quinones Galvan, Alfredo; Mammini, Chiara; Berti, Sergio; Molinaro, Sabrina; Iervasi, Giorgio

    2014-01-01

    AIM: To evaluate the impact on glucose variability (GLUCV) of an nurse-implemented insulin infusion protocol when compared with a conventional insulin treatment during the day-to-day clinical activity. METHODS: We enrolled 44 type 2 diabetic patients (n = 32 males; n = 12 females) with acute coronary syndrome (ACS) and randomy assigned to standard a subcutaneous insulin treatment (n = 23) or a nurse-implemented continuous intravenous insulin infusion protocol (n = 21). We utilized some parameters of GLUCV representing well-known surrogate markers of prognosis, i.e., glucose standard deviation (SD), the mean daily ? glucose (mean of daily difference between maximum and minimum glucose), and the coefficient of variation (CV) of glucose, expressed as percent glucose (SD)/glucose (mean). RESULTS: At the admission, first fasting blood glucose, pharmacological treatments (insulin and/or anti-diabetic drugs) prior to entering the study and basal glycated hemoglobin (HbA1c) were observed in the two groups treated with subcutaneous or intravenous insulin infusion, respectively. When compared with patients submitted to standard therapy, insulin-infused patients showed both increased first 24-h (median 6.9 mmol/L vs 5.7 mmol/L P < 0.045) and overall hospitalization ? glucose (median 10.9 mmol/L vs 9.3 mmol/L, P < 0.028), with a tendency to a significant increase in first 24-h glycaemic CV (23.1% vs 19.6%, P < 0.053). Severe hypoglycaemia was rare (14.3%), and it was observed only in 3 patients receiving insulin infusion therapy. HbA1c values measured during hospitalization and 3 mo after discharge did not differ in the two groups of treatment. CONCLUSION: Our pilot data suggest that no real benefit in terms of GLUCV is observed when routinely managing blood glucose by insulin infusion therapy in type 2 diabetic ACS hospitalized patients in respect to conventional insulin treatment PMID:25126402

  8. 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

  9. Rett Syndrome

    MedlinePLUS

    ... is Rett Syndrome? Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child ... antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children ...

  10. 58. Rett Syndrome Is Reversible and Treatable by MeCP2 Gene Therapy into the Striatum in Mice

    Microsoft Academic Search

    Ken-ichiro Kosai; Akira Kusaga; Takeo Isagai; Koji Hirata; Satoshi Nagano; Yoshiteru Murofushi; Tomoyuki Takahashi; Sachio Takashima; Toyojiro Matsuishi

    2005-01-01

    Introduction and aims: Mutations in the methyl-CpG-binding protein 2 (MeCP2), which binds methylated DNA and regulates gene expression, cause Rett syndrome (RTT). RTT is a neurodevelopmental disorder characterized by normal early psychomotor development, followed by the loss of psychomotor skills, and by the onset of stereotyped hand movement and of gait disturbances; no effective therapy has been developed for the

  11. Diagnosis and therapy of polycystic ovarian syndrome: results of a survey among German gynecologists with a review on literature

    Microsoft Academic Search

    Ines Doll; Richard Doll; Kai J. Buhling

    Objective  Polycystic ovarian syndrome is one of the most frequent endocrine dysfunctions in women in their fertile age. To date, a clear\\u000a definition of the disease remains controversial among experts, partly because study results concerning diagnostics and therapy\\u000a are incoherent. In this survey, we intend to give an insight into the diagnostics and treatment regimes of PCOS in Germany\\u000a and subsequently

  12. Concentrated ascites re-infusion therapy for pseudo-Meigs' syndrome complicated by massive ascites in large pedunculated uterine leiomyoma.

    PubMed

    Yonehara, Yukie; Yanazume, Shintaro; Kamio, Masaki; Togami, Shinichi; Tasaki, Takashi; Douchi, Tsutomu

    2014-07-01

    Pseudo-Meigs' syndrome accompanied by massive ascites in uterine leiomyoma is rare. We encountered a rare case of a 37-year-old, nulliparous woman with a lower abdominal tumor and severe abdominal distention due to massive ascites. Serum cancer antigen 125 and vascular endothelial growth factor levels were elevated to 1007.9?U/mL and 103?pg/mL, respectively. She was tentatively diagnosed with ovarian cancer. Emergency concentrated ascites re-infusion therapy was performed to improve dyspnea, abdominal pain, and her preoperative respiratory condition. Concentrated ascites re-infusion therapy eliminated dyspnea and abdominal discomfort without decreasing serum albumin levels. The patient underwent laparotomy, which revealed a fist-sized pedunculated uterine leiomyoma arising from the right uterine fundus. Myomectomy was performed. Pseudo-Meigs' syndrome mimics advanced ovarian cancer due to massive ascites and markedly elevated serum cancer antigen 125 and vascular endothelial growth factor levels. Concentrated ascites re-infusion therapy was effective in improving the subjective symptoms of pseudo-Meigs' syndrome and the patient's preoperative condition. PMID:25056475

  13. A manual therapy intervention improves symptoms in patients with carpal tunnel syndrome: a pilot study.

    PubMed

    Maddali Bongi, Susanna; Signorini, Massimo; Bassetti, Massimo; Del Rosso, Angela; Orlandi, Martina; De Scisciolo, Giuseppe

    2013-05-01

    In carpal tunnel syndrome (CTS), manual therapy interventions (MTI) reduce tissue adhesion and increase wrist mobility. We evaluated the efficacy of a MTI in relieving CTS signs and symptoms. Twenty-two CTS patients (pts) (41 hands) were treated with a MTI, consisting in 6 treatments (2/week for 3 weeks) of soft tissues of wrist and hands and of carpal bones. Pts were assessed for hand sensitivity, paresthesia, hand strength, hand and forearm pain, night awakening; Phalen test, thenar eminence hypotrophy and Boston Carpal Tunnel Questionnaire (BCTQ) Symptom Severity Scale (SSS) and Functional Status Scale (FSS). Median nerve was studied by sensory nerve conduction velocity (SNCV) and distal motor latency (DML). CTS was scored as minimal, mild, medium, severe and extreme. We considered as control group the same pts assessed before treatment: at baseline (T0a) and after 12 weeks (T0b). Pts were evaluated at the end of treatment (T1) and after 24-week (T2) follow-up. At T0b, versus T0a, forearm pain and Phalen test positivity were increased and hand strength reduced (p < 0.05). BCTQ-SSS and BCTQ-FSS scores improved at T1 versus T0b (p < 0.05) with the amelioration maintained at T2. At T1, the number of pts with paresthesia, night awakening, hypoesthesia, Phalen test, hand strength reduction and hand sensitivity was reduced with the lacking of symptoms maintained at T2 (p < 0.05). No changes in SNCV, DML and CTS scoring were shown. MTI improved CTS signs and symptoms, with benefits maintained at follow-up. Thus, it may be valid as a conservative therapy. PMID:23064542

  14. 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

  15. 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

  16. N-acetylcysteine advancement of surfactant therapy in experimental meconium aspiration syndrome: possible mechanisms.

    PubMed

    Kopincová, J; Mokrá, D; Mikolka, P; Kolomazník, M; ?alkovská, A

    2014-01-01

    Meconium aspiration syndrome (MAS) is meconium-induced respiratory failure of newborns associated with activation of inflammatory and oxidative pathways. For severe MAS, exogenous surfactant treatment is used which improves respiratory functions but does not treat the inflammation. Oxidative process can lead to later surfactant inactivation; hence, surfactant combination with antioxidative agent may enhance the therapeutic effect. Young New Zealand rabbits were instilled by meconium suspension and treated by surfactant alone, N-acetylcysteine (NAC) alone or by their combination and oxygen-ventilated for 5 h. Blood samples were taken before and 30 min after meconium application and 30 min, 1, 3 and 5 h after the treatment for evaluating of oxidative damage, total leukocyte count, leukocyte differential count and respiratory parameters. Leukocyte differential was assessed also in bronchoalveolar lavage fluid. NAC alone had only mild therapeutic effect on MAS. However, the combination of NAC and surfactant facilitated rapid onset of therapeutic effect in respiratory parameters (oxygenation index, PaO(2)/FiO(2)) compared to surfactant alone and was the only treatment which prevented neutrophil migration into the lungs, oxidative damage and lung edema. Moreover, NAC suppressed IL-8 and IL-beta formation and thus seems to be favorable agent for improving surfactant therapy in MAS. PMID:25669694

  17. Paraoxonase responses to exercise and niacin therapy in men with metabolic syndrome.

    PubMed

    Taylor, James Kyle; Plaisance, Eric P; Mahurin, A Jack; Mestek, Michael L; Moncada-Jimenez, Jose; Grandjean, Peter W

    2015-01-01

    Our purpose was to characterize changes in paraoxonase 1 (PON1) activity and concentration after single aerobic exercise sessions conducted before and after 6 weeks of niacin therapy in men with metabolic syndrome (MetS). Twelve men with MetS expended 500 kcal by walking at 65% of VO2max before and after a 6-week regimen of niacin. Niacin doses were titrated by 500 mg/week from 500 to 1500 mg/day and maintained at 1500 mg/day for the last 4 weeks. Fasting blood samples were collected before and 24 hours after each exercise session and analyzed for PON1 activity, PON1 concentration, myeloperoxidase (MPO), apolipoprotein A1, oxidized low-density lipoprotein (oLDL), lipoprotein particle sizes and concentrations. PON1 activity, PON1 concentration, MPO, and oLDL were unaltered following the independent effects of exercise and niacin (P > 0.05 for all). High-density lipoprotein particle size decreased by 3% (P = 0.040) and concentrations of small very low-density lipoprotein increased (P = 0.016) following exercise. PON1 activity increased 6.1% (P = 0.037) and PON1 concentrations increased 11.3% (P = 0.015) with the combination of exercise and niacin. Exercise and niacin works synergistically to increase PON1 activity and concentration with little or no changes in lipoproteins or markers of lipid oxidation. PMID:25180827

  18. Gene specific therapy for cardiac disease: the case of long QT syndrome.

    PubMed

    Priori, S G

    1998-11-01

    Molecular genetics is progressively entering clinical practice. This new approach is modifying medical thinking as it becomes possible to diagnose diseases in their presymptomatic phase. It is therefore important for physicians to become acquainted with the "language" and the "methodology" of molecular biologists in order to balance opposite attitudes of the novice, i.e. skepticism and over-expectation, and to establish a fruitful interaction with the molecular diagnostic laboratories. Long QT syndrome is an inherited disease that few years ago was still called "idiopathic" as the underlying causes were unknown. Clinicians are now becoming aware that what was considered as one disease is actually the common phenotype of defects in at least five different LQT-related genes and that therefore clinical heterogeneity is likely to parallel genetic heterogeneity. The first steps have been undertaken to define the relative prevalence of the molecular variants of LQTS, to develop gene-specific therapy and to perform risk stratification based on the molecular defect. In this article, current knowledge of the molecular bases of LQTS is reviewed and criteria are proposed to help defining 1) when it is appropriate to attempt molecular diagnosis, 2) how to interpret results of the diagnostic laboratory and 3) how molecular diagnosis may affect patients management. PMID:9857743

  19. Treatment of Cholesterol Embolization Syndrome in the Setting of an Acute Indication for Anticoagulation Therapy.

    PubMed

    Kim, Hidong; Zhen, David B; Lieske, John C; McBane, Robert D; Grande, Joseph P; Sandhu, Gurpreet S; Melduni, Rowlens M

    2014-06-01

    Cholesterol embolization syndrome (CES) is a complication sometimes occurring after invasive endovascular procedures. CES is characterized by release of cholesterol crystals and particles from atheromatous plaques, which can occlude distal vessels and induce an inflammatory response, resulting in end-organ damage. We report the case of a 66-year-old man who presented with an acute ST-elevation myocardial infarction. An intra-aortic balloon pump was placed due to hemodynamic instability following percutaneous coronary intervention. Ten weeks after discharge, he presented with signs and symptoms of CES (e.g., livedo reticularis, acrocyanosis, acute renal failure), and a new left ventricular apical thrombus. Withdrawal of anticoagulation is often recommended in the setting of CES, on the presumption that anticoagulants favor plaque hemorrhage and subsequent cholesterol micro-embolization. Because of the potential disastrous consequences of an embolus, the patient was anticoagulated with warfarin concurrently with corticosteroids to suppress the inflammatory response to cholesterol crystals. His renal function continued to improve and was discharged without the need for dialysis. This case illustrates that anticoagulation therapy in CES is feasible and appears to be safe in patients with a coexisting urgent indication for anticoagulation. PMID:25197328

  20. Conservative treatment of carpal tunnel syndrome: comparison between laser therapy and Fascial Manipulation(®).

    PubMed

    Pratelli, Elisa; Pintucci, Marco; Cultrera, Pina; Baldini, Enrico; Stecco, Antonio; Petrocelli, Antonio; Pasquetti, Pietro

    2015-01-01

    The etiopathogenesis of Carpal Tunnel Syndrome (CTS) is multifactorial and most cases are classified as idiopathic (Thurston 2013). A randomized controlled trial was performed to compare the effectiveness of Fascial Manipulation(®) (FM) and Low-Level Laser Therapy (LLLT) for CTS. This prospective trial included 42 patients (70 hands with symptoms) with clinical and electroneuromyographic diagnosis of CTS. The patients were randomly assigned to receive multiple sessions of FM or multiple session of LLLT. The Visual Analogic Scale (VAS) and Boston Carpal Tunnel Questionnaire (BCTQ) were performed at baseline, end of treatment and after three months. The group that received FM showed a significant reduction in subjective pain perception and an increased function assessed by BCTQ at the end of the treatment and follow-up. The group that received LLLT showed an improvement in the BCTQ at the end of the treatment but the improvement level was not sustained at the three month follow-up. FM is a valid alternative treatment for CTS. PMID:25603750

  1. Down Syndrome

    MedlinePLUS

    ... Special help, such as physical therapy and speech therapy , can give kids a boost with their walking and talking skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

  2. 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…

  3. [The effect of long-term therapy of obstructive sleep apnea syndrome with CPAP for symptoms of daytime sleepiness].

    PubMed

    Pietrzyk, A; Zgierska, A; P?ywaczewski, R; Zieli?ski, J

    1997-01-01

    The study was undertaken to investigate whether a long-term CPAP therapy improves the symptoms of daytime sleepiness in patients with the obstructive sleep apnoea syndrome. Seventy six patients (72 men and 4 women) with AHI = 53(+/- SE = 3), BMI 35 (+/- SE = 0.8), mean age 46.3 (+/- SE = 11.4) have undergone CPAP therapy for at least one year (mean: 2.48 +/- SE = 0.33). The aggravation of alterations of the daytime sleepiness was estimated using the questionnaire from Sleep Laboratory at the Marburg University and the Epworth Sleepiness Scale (ESS). After the CPAP therapy, we have observed the decrease of the symptoms of the excessive daytime sleepiness (p < 0.001). Negative correlation between CPAP compliance and ESS outcome was observed (r = 0.4; p < 0.001). There was not correlation between the term of using CPAP and the degree of the complaints decrease. PMID:9557115

  4. Wiskott-Aldrich Syndrome, A Genetically Determined Cellular Immunologic Deficiency: Clinical and Laboratory Responses to Therapy with Transfer Factor*

    PubMed Central

    Levin, A. S.; Spitler, L. E.; Stites, D. P.; Fudenberg, H. H.

    1970-01-01

    Patients with diseases associated with defects in cellular immunity, such as the Wiskott-Aldrich syndrome, characteristically have severe recurrent infections and usually succumb to overwhelming infection at an early age. This communication describes a patient with this syndrome, defective delayed hypersensitivity by skin tests and by in vitro lymphocyte response, who was treated with dialysate of peripheral blood leukocytes (transfer factor). After treatment, the clinical status of the patient improved dramatically, concomitant with the development of delayed hypersensitivity to antigens to which the donor was sensitive. In vitro tests after transfer indicated that the patient's lymphocytes, when stimulated by specific antigen, produced migration inhibitory factor without concomitant DNA synthesis. These observations dissociate skin test sensitivity and activity of migration inhibitory factor from in vitro blastogenesis. Further, the response to phytohemagglutinin remained diminished before and after therapy. While these findings represent only an individual case, the climical results suggest that investigation of the use of transfer factor appears warranted in the therapy of Wiskott-Aldrich syndrome and other genetically-determined diseases associated with impaired cellular immunity. Images PMID:5289024

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

    PubMed Central

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

    2015-01-01

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

  6. Low-level laser therapy and myofacial pain dysfunction syndrome: a randomized controlled clinical trial.

    PubMed

    Shirani, Amir Mansour; Gutknecht, Norbert; Taghizadeh, Mahshid; Mir, Maziar

    2009-09-01

    Myofacial pain dysfunction syndrome (MPDS) is the most common reason for pain and limited function of the masticatory system. The effects of low-level lasers (LLLs) for controlling the discomfort of patients are investigated frequently. However, the aim of this study was to evaluate the efficacy of a particular source producing 660 nm and 890 nm wavelengths that was recommended to reduce of the pain in the masticatory muscles. This was a double-blind and placebo-controlled trial. Sixteen MPDS patients were randomly divided into two groups. For the laser group, two diode laser probes (660 nm (nanometers), 6.2 J/cm(2), 6 min, continuous wave, and 890 nm, 1 J/cm(2) (joules per square centimetre), 10 min, 1,500 Hz (Hertz)) were used on the painful muscles. For the control group, the treatment was similar, but the patients were not irradiated. Treatment was given twice a week for 3 weeks. The amount of patient pain was recorded at four time periods (before and immediately after treatment, 1 week after, and on the day of complete pain relief). A visual analog scale (VAS) was selected as the method of pain measurement. Repeated-measures analysis of variance (ANOVA), the t-test and the paired t-test were used to analyze the data. In each group the reduction of pain before and after the treatment was meaningful, but, between the two groups, low-level laser therapy (LLLT) was more effective (P = 0.031) According to this study, this type of LLLT was the effective treatment for pain reduction in MPDS patients. PMID:19002646

  7. 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

  8. 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

  9. 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 faceă10% 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

  10. [Main treatment and preventive measures for hand-foot syndrome, a dermatologic side effect of cancer therapy].

    PubMed

    Bartal, Alexandra; Mátrai, Zoltán; Szűcs, Attila; Liszkay, Gabriella

    2011-06-01

    Hand-foot syndrome is a highly unpleasant adverse reaction caused by treatment protocols containing capecitabine (an orally administered drug), docetaxel, liposomal doxorubicin infusions or continuously infused 5-fluorouracil. It affects the skin of the palms and soles manifesting characteristic symptoms like erythema, inflammation, dysesthesia, pain, thickening, desquamation and cracking of the skin that may progress to cause wounds and ulceration, negatively influencing quality of life, psychological state and belief in recovery, which often result in the need of permanent or temporary interruption of the oncologic treatment and are potential sources of danger to the completion of the therapy. Adequate provision of the syndrome is of particular importance since a decline in adherence due to adverse events endangers precise maintenance of the self-sufficient oral treatment at home. Early recognition of symptoms, regular oncologic checkups and patient education on how to prevent or soothe the unpleasant skin toxicities could ensure a more successful treatment. PMID:21655474

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

    Microsoft Academic Search

    Paolo Milani; Mauro Mondelli; Federica Ginanneschi; Riccardo Mazzocchio; Alessandro Rossi

    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

  12. Immune Reconstitution Syndrome

    MedlinePLUS

    ... IMMUNE RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... in the first two months after starting HIV therapy. This condition is sometimes called Immune ... WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  13. 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 ?-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

  14. Cost-effectiveness of internet-based cognitive behavior therapy for irritable bowel syndrome: results from a randomized controlled trial

    Microsoft Academic Search

    Erik Andersson; Brjánn Ljótsson; Filip Smit; Björn Paxling; Erik Hedman; Nils Lindefors; Gerhard Andersson; Christian Rück

    2011-01-01

    Background  Irritable Bowel Syndrome (IBS) is highly prevalent and is associated with a substantial economic burden. Cognitive behavior\\u000a therapy (CBT) has been shown to be effective in treating IBS. The aim of this study was to evaluate the cost-effectiveness\\u000a of a new treatment alternative, internet-delivered CBT based on exposure and mindfulness exercises.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Participants (N = 85) with IBS were recruited through

  15. Intrathecal baclofen therapy after liver transplant in a patient with Crigler-Najjar syndrome: a case report

    PubMed Central

    Pratini, Napala R.; Neufeld, Jacob A.

    2013-01-01

    Crigler-Najjar syndrome (CNS) is described as severe infantile, nonhemolytic, unconjugated hyperbilirubinemia, and is divided into Type I and Type II according to the patient’s response to phenobarbital treatment. Type I CNS patients usually require liver transplant. These patients often suffer from spasticity and dystonia, both of which can be treated with intrathecal baclofen therapy (ITB). We present the case of a patient with CNS Type I who underwent a liver transplant followed years later by ITB therapy. To the authors’ knowledge, this is the first report of a patient with CNS being treated for dystonia with an intrathecal baclofen pump. Despite his complicated history, this patient has remained medically stable following both interventions. PMID:24365780

  16. 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

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

    PubMed Central

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

    2015-01-01

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

  18. The risk of ischaemic colitis in irritable bowel syndrome patients treated with serotonergic therapies.

    PubMed

    Lewis, James H

    2011-07-01

    Ischaemic colitis (IC) is the most common form of ischaemic injury to the gastrointestinal (GI) tract. IC typically presents with the sudden onset of lower abdominal pain, cramping and rectal bleeding, and is usually self-limited with low morbidity, although it may cause gangrenous or fulminant colitis, especially when the right colon is involved. Multiple medical conditions, as well as several pharmacological agents, are associated with IC, including irritable bowel syndrome (IBS) and drugs used for its treatment that act on gut serotonin 5-HT receptors. These include the selective 5-HT(3) receptor antagonist alosetron, currently approved for the treatment of severe diarrhoea-predominant IBS in women who fail to respond to conventional treatment, and cilansetron, another 5-HT(3) receptor antagonist that is no longer in clinical development. In addition, the 5-HT(4) receptor partial agonist tegaserod, which was approved for the treatment of constipation-predominant IBS in women, was associated with IC in the postmarketing setting, as was renzapride, a 5-HT(4) agonist/5-HT(3) antagonist. Although several hypotheses have been proposed, the pathophysiological basis for development of IC with 5-HT(3) receptor antagonists or 5-HT(4) receptor agonists remains unknown. Of interest, several population-based studies demonstrated that a diagnosis of IBS (independent of serotonergic therapies) increases the risk of developing IC 2- to 4-fold. As a result, IBS patients with the acute onset of abdominal pain, tenderness, diarrhoea or lower intestinal bleeding, especially those with predisposing conditions or medications, should be evaluated promptly for IC. The management of IC remains supportive; most cases of non-gangrenous IC, as seen in the alosetron and tegaserod databases, have been transient and have resolved spontaneously without complications or death. Despite the small number of deaths associated with alosetron in patients with complications of constipation and because of the ongoing requirement to prescribe alosetron under a risk management plan, misconceptions persist regarding the definition, incidence, severity and outcome of IC in clinical trials and the postmarketing setting. In this article, the frequency and clinical characteristics of IC associated with the use of alosetron and other serotonergic agents are examined, evidence of an association between IC and IBS is reviewed, and a scoring system to aid in the diagnosis of IC in any clinical situation is proposed. PMID:21663331

  19. 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

  20. 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

  1. Combination therapy for segmental craniocervical dystonia (Meige syndrome) with aripiprazole, trihexyphenidyl, and botulinum toxin: three cases reports.

    PubMed

    Saito, Tsukasa; Katayama, Takayuki; Sawada, Jun; Kano, Kohei; Asanome, Asuka; Takahashi, Kae; Sato, Nobuyuki; Hasebe, Naoyuki

    2015-02-01

    Segmental craniocervical dystonia is characterized by blephalospasm and oromandibular dystonia and is also called Meige syndrome. The current treatment strategy including botulinum toxin (BTX) injections has not yet attained an acceptable level. We describe a long-term favorable response of a novel combination therapy with aripiprazole (ARP), trihexyphenidyl (THP), and BTX in three patients with segmental craniocervical dystonia. The symptoms of three patients responded promptly to the combination therapy with ARP 3-6 mg daily, THP 2-8 mg daily, and BTX. Although the patients were required to receive a BTX 50-100 IU injection every 3-6 months, their symptoms were kept in a satisfactory condition for up to 2 years without any adverse effects. ARP possesses the potential for dramatically improving dystonia. THP has the possibility to enhance the efficacy of ARP and prolong the effective period of BTX. It may be an important requisite to give all three agents together for a successful treatment. The combination therapy with ARP, THP, and BTX was well-tolerated and useful in controlling the symptoms of segmental craniocervical dystonia, however, the reason why this combination therapy succeeded is unknown. A further long-term follow-up is required to monitor the delayed neurological adverse effects. PMID:25151364

  2. Development and psychokinetic therapy of children suffering from West Syndrome--an overview.

    PubMed

    Gajewska, E; Mojs, E; Sobieska, M; Samborski, W

    2005-01-01

    Paper presents reasons leading to the West Syndrome, disturbances occurring in the child's development and possible rehabilitation programmes. Psychological rehabilitation of a child with West Syndrome is multilateral, but its main aim is to improve the quality of life, social adaptation and optimizing of the cognitive functioning. Taking into consideration the psychokinetic retardation occurring in the West Syndrome because of prenatal, perinatal or postnatal disturbances apart from pharmacotherapy an intensive psychokinetic stimulation based on plasticity of the brain should be stressed out. Only the complex, intensive and long lasting rehabilitation of a child may secure to it the best possible development. PMID:16358987

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

    PubMed Central

    Choi, Seong K.; Graber, Christopher J.

    2014-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  5. A Case of Childhood Vitrectomy Performed for Dense Vitreous Hemorrhage Secondary to Leukemia Therapy and Tumor Lysis Syndrome

    PubMed Central

    Kudo, Takashi; Suzuki, Yukihiko; Metoki, Tomomi; Nakazawa, Mitsuru

    2015-01-01

    Purpose To report a case of vitrectomy performed in a child with dense massive vitreous hemorrhage due to secondary acute myelogenous leukemia (AML) and tumor lysis syndrome. Case A 4-year-old boy with clear-cell renal cell carcinoma was successfully treated with chemotherapy in 2011. However, in May 2012, he developed secondary AML. Although he was treated with combined chemotherapy and radiation, tumor lysis syndrome occurred with renal and heart failure complications. After an ultrasound examination by pediatricians found bilateral subretinal protrusions, he was referred to our clinic. Fundus examinations confirmed that the protrusions were bilateral subretinal or choroidal hemorrhages. A few weeks later, dense vitreous hemorrhages occurred bilaterally, and he completely lost vision in both eyes. Electroretinograms were extinguished in both eyes. After improvement of his general condition, we performed a 25-gauge vitrectomy combined with lens extraction in his left eye in December 2012. After removal of the vitreous hemorrhage, we found the subretinal hemorrhage had already been absorbed, leaving a mottled fundus color. However, the optic disc was not pale. Nine months after the surgery, his best-corrected visual acuity finally improved to 0.1. Conclusion We successfully treated a case of severe vitreous hemorrhage secondary to leukemia therapy and tumor lysis syndrome using 25-gauge vitrectomy. This procedure may be safe and effective to perform, even in children with complications. PMID:25759668

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

    E-print Network

    Galili, Naomi

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

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

    PubMed Central

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

    2015-01-01

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

  8. [Effectiveness of transcranial magnetic therapy in the complex treatment of alcohol abstinent syndrome].

    PubMed

    Staroverov, A T; Zhukov, O B; Ra?gorodski?, Iu M

    2008-01-01

    Fifty-four abstinent alcohol-dependent patients have been studied. Twenty-nine patients (a main group) received, along with basic therapy, a physiotherapeutic treatment (transcranial dynamic magnetic therapy) and 25 patients (a control group) received only basic therapy. The comparison of the efficacy of treatment in patients of the main and control groups revealed the benefits of transcranial dynamic magnetic therapy in CNS function, performance on memory and attention tests, state of autonomic nervous system and psychoemotional state of patients (the reduction of anxiety and depression). PMID:18833174

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    1992-08-01

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

  11. Rescue therapy with eculizumab in a transplant recipient with atypical haemolytic-uraemic syndrome

    PubMed Central

    Durán, Carlos E.; Blasco, Miquel; Maduell, Francisco

    2012-01-01

    Haemolytic–uraemic syndrome is a clinical syndrome characterized by thrombocytopaenia, non-autoimmune haemolytic anaemia and renal impairment. Pathological alterations in kidney samples show thrombotic microangiopathy. The underlying pathogenesis is endothelial cell injury with thrombotic occlusion of the arterioles and capillaries. A variety of causes have been identified, associated with infection of Escherichia coli O157:H7, environmental factors as immunosuppressive drugs and genetic deficiencies in complement regulatory factors. The latter is called atypical haemolytic–uraemic syndrome (aHUS). Here, we present a patient with severe aHUS with complement factor H deficiency triggered by cocaine use and recurrence after kidney transplantation. The patient restarted haemodialysis for severe renal insufficiency and anti-C5 antibody eculizumab was used as salvage treatment with progressive recovery of graft function and suppression of dialysis.

  12. The Epidemiology of Meconium Aspiration Syndrome: Incidence, Risk Factors, Therapies, and Outcome

    Microsoft Academic Search

    Peter A. Dargaville; MBBS FRACP; Beverley Copnell

    OBJECTIVE.We sought to examine, in a large cohort of infants within a definable population of live births, the incidence, risk factors, treatments, complications, and outcomes of meconium aspiration syndrome (MAS). DESIGN.Data were gathered on all of the infants in Australia and New Zealand who were intubated and mechanically ventilated with a primary diagnosis of MAS (MASINT) between 1995 and 2002,

  13. Treatment of Cannabis Withdrawal Syndrome Using Cognitive-Behavioral Therapy and Relapse Prevention for Cannabis Dependence

    Microsoft Academic Search

    Aviv Weinstein; Hila Miller; Eti Tal; Irit Ben Avi; Isachar Herman; Rachel Bar-Hamburger; Miki Bloch

    2010-01-01

    Cannabis is the most frequently used illegal substance in the United States and Europe. There is a dramatic increase in the demand for treatment for cannabis dependence. The majority of marijuana-dependent individuals who enter treatment have difficulty in achieving and maintaining abstinence from cannabis partly due to the cannabis withdrawal syndrome. Onset of most symptoms occurs during the 1st week

  14. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome

    Microsoft Academic Search

    Susumu Ito; Hirokazu Oguni; Yasushi Ito; Keiko Ishigaki; Junko Ohinata; Makiko Osawa

    2008-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT-1 DS), giving rise to impaired glucose transport across the blood–brain barrier, is characterized by infantile seizures, complex motor disorders, global developmental delay, acquired microcephaly, and hypoglycorrhachia. GLUT-1 DS can be treated effectively with a ketogenic diet because it can provide an alternative fuel for brain metabolism; however, the excessive restriction of food intake

  15. The relationship of asthma therapy and Churg-Strauss syndrome: NIH workshop summary report

    Microsoft Academic Search

    Peter F. Weller; Marshall Plaut; Virginia Taggart; Anne Trontell

    2001-01-01

    The Churg-Strauss syndrome (CSS) is a distinct form of vasculitis that is notable for its eosinophilia and frequent associations with asthma and sinusitis. Because there has been an increasing recognition that CSS can develop in patients with asthma and that CSS might be associated with specific asthma treatments, the National Heart, Lung, and Blood Institute, the National Institute of Allergy

  16. Adaptive Pacing, Cognitive Behaviour Therapy, Graded Exercise, and Specialist Medical Care for Chronic Fatigue Syndrome: A Cost-Effectiveness Analysis

    PubMed Central

    McCrone, Paul; Sharpe, Michael; Chalder, Trudie; Knapp, Martin; Johnson, Anthony L.; Goldsmith, Kimberley A.; White, Peter D.

    2012-01-01

    Background The PACE trial compared the effectiveness of adding adaptive pacing therapy (APT), cognitive behaviour therapy (CBT), or graded exercise therapy (GET), to specialist medical care (SMC) for patients with chronic fatigue syndrome. This paper reports the relative cost-effectiveness of these treatments in terms of quality adjusted life years (QALYs) and improvements in fatigue and physical function. Methods Resource use was measured and costs calculated. Healthcare and societal costs (healthcare plus lost production and unpaid informal care) were combined with QALYs gained, and changes in fatigue and disability; incremental cost-effectiveness ratios (ICERs) were computed. Results SMC patients had significantly lower healthcare costs than those receiving APT, CBT and GET. If society is willing to value a QALY at Ł30,000 there is a 62.7% likelihood that CBT is the most cost-effective therapy, a 26.8% likelihood that GET is most cost effective, 2.6% that APT is most cost-effective and 7.9% that SMC alone is most cost-effective. Compared to SMC alone, the incremental healthcare cost per QALY was Ł18,374 for CBT, Ł23,615 for GET and Ł55,235 for APT. From a societal perspective CBT has a 59.5% likelihood of being the most cost-effective, GET 34.8%, APT 0.2% and SMC alone 5.5%. CBT and GET dominated SMC, while APT had a cost per QALY of Ł127,047. ICERs using reductions in fatigue and disability as outcomes largely mirrored these findings. Conclusions Comparing the four treatments using a health care perspective, CBT had the greatest probability of being the most cost-effective followed by GET. APT had a lower probability of being the most cost-effective option than SMC alone. The relative cost-effectiveness was even greater from a societal perspective as additional cost savings due to reduced need for informal care were likely. PMID:22870204

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

    PubMed Central

    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

  18. Therapy-related myelodysplastic syndrome/acute leukemia after multiple myeloma in the era of novel agents.

    PubMed

    Gertz, Morie A; Terpos, Evangelos; Dispenzieri, Angela; Kumar, Shaji; Shah, Rupin A; Orlowski, Robert; Kastritis, Efstathios; Dimopoulos, Meletios A; Shah, Jatin

    2015-06-01

    Survival for patients with multiple myeloma has increased. Both melphalan and lenalidomide are associated with subsequent development of myelodysplasia. We reviewed the cases of all patients with multiple myeloma who had subsequent development of myelodysplastic syndrome (MDS) or acute non-lymphoblastic leukemia (ANLL) during a 12-year period in three centers. Of 55 patients identified, two received only lenalidomide before myelodysplasia developed. The median time between the diagnoses of multiple myeloma and MDS/ANLL was 52.7 months. Median survival after the diagnosis of MDS or ANLL was 6.7 months. Treatment of MDS comprised allogeneic stem cell transplant in eight patients (median survival, 219 days; one patient alive at 624 days) and a hypomethylating agent in 21 patients (response of stable or better in five patients). Myelodysplasia remains a devastating complication of therapy for multiple myeloma, with short survival and poor response rates to available modalities. PMID:25284489

  19. Diffuse choroidal hemangioma associated with exudative retinal detachment in a Sturge-Weber syndrome case: photodynamic therapy and intravitreous bevacizumab.

    PubMed

    Anaya-Pava, Edwin J; Saenz-Bocanegra, Carlos H; Flores-Trejo, Alejandro; Castro-Santana, Norma A

    2015-03-01

    We report the case of a young female patient with a diffuse choroidal hemangioma (DCH) and glaucoma as part of Sturge-Weber syndrome (SWS) and symptomatic retinal detachment that was treated successfully with photodynamic therapy (PDT) and intravitreal bevacizumab (IVB). The patient was treated with a single session of PDT, a 689-nm laser was used to deliver 50J/cm(2) with a maximum spot size of 6400?m, for 166s. IVB was administered 3 days later. The exudative retinal detachment (ERD), macular edema and visual acuity improved one week after treatment. The patient was followed for 18 months with no recurrence of ERD, and her visual acuity was preserved. PDT followed by IVB may be an effective treatment option for visual deterioration due to ERD in patients with DCHs, as are found in SWS. PMID:25560419

  20. The clinical practice of Cognitive Behavioural Therapy for children and young people with a diagnosis of Asperger's Syndrome.

    PubMed

    Donoghue, Kate; Stallard, Paul; Kucia, Joanna

    2011-01-01

    Children and young people diagnosed with Asperger's Syndrome (AS) have significant social-communication difficulties and impaired empathy and theory of mind skills. These difficulties place them at risk of developing mental health problems, particularly anxiety, depression and obsessive compulsive disorder. Although Cognitive Behavioural Therapy (CBT) is recognised as an effective intervention for these problems in both child and adult populations, little research has specifically looked at the use of CBT with children and young people with an AS diagnosis. However, limited evidence suggests that CBT, if suitably adapted, is a feasible and potentially helpful treatment option. This paper focuses on the clinical practice of CBT and explores how the underpinning therapeutic relationship can be modified to meet the cognitive needs of this particular group of young clients. PMID:20516059

  1. Hyperbaric oxygen therapy prevents vascular derangement during zymosan-induced multiple-organ-failure syndrome

    Microsoft Academic Search

    Francesco Imperatore; Salvatore Cuzzocrea; Carlo Luongo; Giovanni Liguori; Antonella Scafuro; Antonella De Angelis; Francesco Rossi; Achille P. Caputi; Amelia Filippelli

    2004-01-01

    ObjectiveThis study investigated the effects of hyperbaric oxygen (HBO) therapy on the cardiovascular alteration (e.g. mean arterial pressure, vascular reactivity of thoracic aorta rings changes) caused by zymosan in rats.DesignRats.SettingUniversity research laboratory.Intervention and measurementsWe investigated the effects of HBO therapy (2 ATA at the fourth and eleventh hours after study onset) on the cardiovascular alteration caused by zymosan (500 mg\\/kg, administered

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

    PubMed

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

    2015-07-01

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

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

    PubMed

    Unfer, Vittorio; Porcaro, Giuseppina

    2014-09-01

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

  4. Pierre Robin syndrome: characteristics of hearing loss, effect of age on hearing level and possibilities in therapy planning.

    PubMed

    Handzi?-Cuk, J; Cuk, V; Risavi, R; Kati?, V; Katusi?, D; Bagatin, M; Stajner-Katusi?, S; Gortan, D

    1996-09-01

    Hearing loss was studied in 22 patients with Pierre Robin syndrome (PRS) aged three to 12 years (median 5.0 years). The results were compared to those obtained in 62 patients with isolated cleft palate (ICP) aged one to 27 years (median 5.5 years). Hearing loss was more frequently found in PRS (73.3 per cent) than in ICP (58.1 per cent) patients (p = 0.02). PRS patients had more ears with moderate (21-40 dB) and severe (> 40 dB) hearing loss, disturbing their social contact, with no tendency to normalization with age (Spearman r = 0.065). In contrast to PRS, ICP patients showed a significant tendency to hearing level normalization with ageing (Spearman r = -0.453; p = 0.001). Planigraphs of temporal bones showed inadequately developed pneumatization of the mastoid bone in all PRS patients and in most ICP patients. No malformation of the inner or middle ear was found in either group. PRS patients have a significantly higher risk of conductive hearing loss than those with ICP. Use of tympanostomy (ventilation) tubes is therapy of choice in patients with Pierre Robin syndrome, and it should be introduced as early as possible, even at the same time as palatoplasty. PMID:8949291

  5. A Biopsychosocial Therapy Model for Chronic Prostatitis\\/Chronic Pelvic Pain Syndrome

    Microsoft Academic Search

    Dean A. Tripp

    \\u000a Chronic prostatitis\\/chronic pelvic pain syndrome (CP\\/CPPS) has long been considered a frustrating and prevalent condition\\u000a by patients and treating physicians alike. Pain is noted as the cardinal symptom in CP\\/CPPS and is strongly associated with\\u000a a host of intra and interpersonal difficulties reported by patients in domains such as pain, disability, relations, and overall\\u000a quality of life. With no tenable

  6. Stellenwert der Nicht-nCPAP-Verfahren in der Therapie des obstruktiven Schlafapnoe-Syndroms

    Microsoft Academic Search

    Winfried Randerath; Maximilian Bauer; Alexander Blau; Ingo Fietze; Wolfgang Galetke; Holger Hein; Joachim T. Maurer; Maritta Orth; Kurt Rasche; Karl-Heinz Rühle; Bernd Sanner; Boris A. Stuck; Thomas Verse

    2006-01-01

    Zusammenfassung  Ein Großteil der Patienten mit einem obstruktiven Schlafapnoe-Syndrom (OSAS) sucht nach konservativen oder operativen Behandlungsverfahren\\u000a mit deren Hilfe sie die kontinuierliche Positivdruckatmung (CPAP) vermeiden können. Angesichts der hohen Prävalenz der Erkrankung\\u000a und der Beeinträchtigung der Patienten wird eine Vielzahl von Methoden angeboten, mit denen eine definitive Heilung oder entscheidende\\u000a Besserung der Erkrankung versprochen wird. Demgegenüber können nur selten fundierte Daten

  7. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy

    Microsoft Academic Search

    Melvin H. Freedman; Mary Ann Bonilla; Carol Fier; Audrey Anna Bolyard; Debra Scarlata; Laurence A. Boxer; Sherri Brown; Bonnie Cham; George Kannourakis; Sally E. Kinsey; Pier Georgio; Tammy Cottle; Karl Welte; David C. Dale

    2000-01-01

    Granulocyte colony-stimulating factor (G- CSF) has had a major impact on manage- ment of ''severe chronic neutropenia,'' a collective term referring to congenital, idiopathic, or cyclic neutropenia. Almost all patients respond to G-CSF with in- creased neutrophils, reduced infections, and improved survival. Some responders with congenital neutropenia have devel- oped myelodysplastic syndrome and acute myeloblastic leukemia (MDS\\/AML), which raises the

  8. Metformin therapy throughout pregnancy reduces the development of gestational diabetes in women with polycystic ovary syndrome

    Microsoft Academic Search

    C. J Glueck; Ping Wang; Suichi Kobayashi; Harvey Phillips; Luann Sieve-Smith

    2002-01-01

    Objective: To assess whether metformin safely reduced development of gestational diabetes in women with the polycystic ovary syndrome (PCOS).Design: Prospective and retrospective study.Setting: Outpatient clinical research center.Patient(s): The prospective study included 33 nondiabetic women with PCOS who conceived while taking metformin and had live births; of these, 28 were taking metformin through delivery. The retrospective study included 39 nondiabetic women

  9. Therapy of the neonatal abstinence syndrome with tincture of opium or morphine drops

    Microsoft Academic Search

    Stefan Langenfeld; Larissa Birkenfeld; Peter Herkenrath; Carsten Müller; Martin Hellmich; Martin Theisohn

    2005-01-01

    Background:Treating opioid-addicted women with methadone in pregnancy increased the number of newborns suffering from neonatal abstinence syndrome (NAS). High-pitch crying, insomnia, tremor, myoclonic jerks, vomiting, diarrhoea and poor weight gain were reported symptoms, which were evaluated using the Finnegan (F)-score. Earlier phenobarbital or paregoric had been used to suppress symptoms. We surveyed the administration of pure ?-agonist morphine (MO) in

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

    PubMed

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

    2015-08-01

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

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

    PubMed

    Sanford, D; Hsia, C C

    2015-04-01

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

  12. Grade 4 febrile neutropenia and Fournier’s Syndrome associated with triple therapy for hepatitis C virus: A case report

    PubMed Central

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

    2014-01-01

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

  13. Grade 4 febrile neutropenia and Fournier's Syndrome associated with triple therapy for hepatitis C virus: A case report.

    PubMed

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

    2014-06-27

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

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

    PubMed Central

    Sanford, D.; Hsia, C.C.

    2015-01-01

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

  15. [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

  16. Radiation therapy as part of the therapeutic regimen for extensive multilocular myxedema in a patient with exophthalmos, myxedema and osteoarthropathy syndrome: A case report

    PubMed Central

    ELSAYAD, KHALED; KRIZ, JAN; BAUCH, JULIA; SCOBIOALA, SERGIU; HAVERKAMP, UWE; SUNDERKÖTTER, CORD; EICH, HANS THEODOR

    2015-01-01

    Exophthalmos, myxedema and osteoarthropathy (EMO) comprise the triad known as EMO syndrome, which is rarely observed in patients with autoimmune thyroid disease. The present study reports the case of a patient with EMO, including the response of this rare combination to radiotherapy. A 48-year-old patient with EMO syndrome presented to the Department of Radiation Oncology, University Hospital of Muenster, eight years prior to writing with therapy-resistant pretibial myxedema and hypertrophic osteoarthropathy of the metacarpal bones. The patient had been diagnosed with Graves' disease (GD) 26 years prior to presentation, which was treated by thyroidectomy and radioiodine therapy. Four years subsequent to the diagnosis of GD, the patient developed exophthalmos, which was treated using radiotherapy. An evident pretibial, foot and hand myxedema developed within the 10 years following the onset of orbitopathy. The skin lesions were treated using radiation therapy subsequent to the failure of multiple surgical procedures and medical treatments. Almost eight years subsequent to the administration of irradiation, no recurrence was observed on the lower right leg, nor was any recurrence on the lower left leg observed approximately four years subsequent to the completion of radiotherapy. However, an additional lesion on the left hand demonstrated slow progression following treatment with radiation therapy. The present study indicates that radiation therapy can be considered as adjuvant therapy for patients with refractory myxedema, to prevent or delay the recurrence of myxedema subsequent to surgical excision.

  17. [Complex regional pain syndrome (CRPS) - difficulties in diagnostics, therapy and assessment].

    PubMed

    Böger, A

    2015-03-01

    CRPS is still widely unknown among physicians. However, surgeons and GPs should know the diagnostic criteria and the modern therapeutic approaches in order to start early therapy according to recent medical guidelines. Pain specialists and/ or neurologists should be involved because of their clinical and neuroanatomic knowledge. First-line therapy comprises neither extensive instrumental diagnostic procedures nor invasive treatments, which - in some cases - could even worsen the disease. The key point is a variety of specific physiotherapeutic techniques. The prognosis is not as poor as many physicians believe. PMID:25971143

  18. Reduction in glutamine/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome.

    PubMed

    Munakata, Mitsutoshi; Togashi, Noriko; Sakamoto, Osamu; Haginoya, Kazuhiro; Kobayashi, Yasuko; Onuma, Akira; Iinuma, Kazuie; Kure, Shigeo

    2014-01-01

    West syndrome (WS), an intractable epileptic encephalopathy of infancy, is refractory to many antiepileptic drugs; however, adrenocorticotropic hormone (ACTH) is an effective treatment for WS. The mechanism behind the efficacy of ACTH is mediated by biochemical processes that remain unknown. We examined the effects of ACTH therapy with tetracosactide (TCS), a synthetic ACTH analogue, on brain metabolism in patients with WS, using (1)H magnetic resonance spectroscopy (ąH-MRS). In six patients with cryptogenic WS, we performed single-voxel ąH-MRS at the occipital lobe cortex. Measurements were taken prior to TCS treatment, a few days after therapy, and several months after therapy. Data were also compared with subjects having only mild psychomotor delays. The metabolites measured were glutamine plus glutamate (Glx), N-acetylaspartate (NAA), choline (Cho), and myoinositol (mI); each was expressed as a ratio with creatine plus phosphocreatine (total creatine: tCr). The Glx/tCr ratio was significantly reduced after the TCS treatment. The NAA/tCr ratio was also significantly reduced after the treatment compared with the control group, although the change in NAA signal was heterogeneous among patients, correlating with respective outcomes. The Cho/tCr and mI/tCr ratios were not affected by TCS treatment. The reduction in Glx suggests a decrease in the glutamate-glutamine cycle, which plays a pivotal role in synthesizing neurotransmitters such as glutamate and GABA. TCS-induced Glx reduction may induce changes in synaptic signal transduction, thereby accounting for the effect of TCS on WS. The change in NAA indicates altered neuronal activity, which may be correlated with outcome in WS patients. PMID:24705707

  19. 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

  20. 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

  1. [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

  2. Cardiovascular risk factors improve during 3 years of growth hormone therapy in Prader-Willi syndrome

    Microsoft Academic Search

    Dagmar l'Allemand; Urs Eiholzer; Michael Schlumpf; Hans Steinert; Walter Riesen

    2000-01-01

    Cardiovascular risk factors in Prader-Willi syndrome (PWS, OMIM 176270) may be independently caused by overweight or hypothalamic\\u000a growth hormone (GH) deficiency. The present observational study in 23 children with PWS, aged 0.3–14.6?years, focuses on the\\u000a specific pattern, age-dependency and interrelation of cardiovascular risk factors, namely percentage fat mass and regional\\u000a fat distribution, triglycerides (TG), lipoprotein cholesterols (LDL-C, HDL-C), lipoprotein (a)

  3. Optimizing antiplatelet therapy in patients with acute coronary syndromes: a role for monitoring platelet reactivity.

    PubMed

    Holmes, M B; Schneider, D J

    1999-12-01

    Platelet activation is seminal in the thrombosis underlying acute coronary syndromes. Furthermore, high levels of platelet reactivity are associated with an increased risk of future cardiovascular events both in apparently healthy subjects and men with overt coronary artery disease. We have developed a sensitive and specific assay of platelet reactivity using minimally altered whole blood to assess activation of glycoprotein IIb/IIIa and expression of P-selectin (a measure of alpha granule degranulation). This assay reliably identifies subjects with increased platelet reactivity who may benefit from more aggressive inhibition of platelet function on a long-term basis. In addition, this assay is sensitive to the effects of antiplatelet agents such as glycoprotein IIb/IIIa inhibitors. Abciximab, tirofiban and eptifibatide all inhibit fibrinogen binding in a concentration of dependent manner. However, marked variation in the extent of inhibition was seen between individuals. We have postulated that greater inhibition of agonist-induced fibrinogen binding in some and limited inhibition in others may account, in part, for tendencies to bleeding and recurrent thrombosis. This type of assay should allow for determination of platelet reactivity and titration of dosage to the needs of each individual. The assay has the potential to improve the care of patients with acute coronary syndromes and of those undergoing percutaneous coronary intervention as well as assist in the design of clinical trials utilizing antiplatelet drugs. PMID:10745617

  4. 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)

  5. 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

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

    Microsoft Academic Search

    Elsy M. Velazquez; Soaira G. Mendoza; Ping Wang; Charles J. Glueck

    1997-01-01

    Sixteen nondiabetic women with polycystic ovary syndrome (PCOS) aged 18 to 33 years were studied before and after 8 weeks on metformin (1.5 g\\/d) therapy to assess whether reducing hyperinsulinemia would reduce the levels of the major inhibitor of fibrinolysis, antigenic plasminogen activator inhibitor type 1 (PAI-1). Compared with six normal control women, PCOS women had a higher body mass

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

    PubMed Central

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

    2015-01-01

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

  8. Diagnosis of Atypical Hemolytic Uremic Syndrome and Response to Eculizumab Therapy

    PubMed Central

    Mathew, Jacob J; Denunzio, Troy M; Carmichael, Mark G

    2014-01-01

    Atypical hemolytic uremic syndrome (aHUS) has a high mortality rate if not detected and treated early. While in the past, it was associated with renal failure in children, today, it has become increasingly identified among adults. Due to recent advances in the pathogenesis of aHUS and other major thrombotic microangiopathies (TMA), diagnosing it has become a lot easier. We present a case of a 62-year-old man who was initially thought to have thrombotic thrombocytopenic purpura (TTP), but after further evaluation was diagnosed with aHUS. We will discuss how to distinguish aHUS from other major TMA and the role of eculizumab in the management of aHUS. PMID:25285252

  9. Combined Therapy of Dietary Fish Oil and Stearoyl-CoA Desaturase 1 (SCD1) Inhibition Prevents The Metabolic Syndrome and Atherosclerosis

    PubMed Central

    Brown, J. Mark; Chung, Soonkyu; Sawyer, Janet K.; Degirolamo, Chiara; Alger, Heather M.; Nguyen, Tam M.; Zhu, Xuewei; Duong, My-Ngan; Brown, Amanda L.; Lord, Caleb; Shah, Ramesh; Davis, Matthew A.; Kelley, Kathryn; Wilson, Martha D.; Madenspacher, Jennifer; Fessler, Michael B.; Parks, John S.; Rudel, Lawrence L.

    2009-01-01

    Background Stearoyl-CoA desaturase 1 (SCD1) is a critical regulator of energy metabolism and inflammation. We have previously reported that inhibition of SCD1 in hyperlipidemic mice fed a saturated fatty acid (SFA)-enriched diet prevented development of the metabolic syndrome, yet surprisingly promoted severe atherosclerosis. In this study we tested whether dietary fish oil supplementation could prevent the accelerated atherosclerosis caused by SCD1 inhibition. Methods and Results LDLr?/?, Apob100/100 mice were fed diets enriched in saturated fat or fish oil in conjunction with antisense oligonucleotide (ASO) treatment to inhibit SCD1. As previously reported, in SFA-fed mice, SCD1 inhibition dramatically protected against development of the metabolic syndrome, yet promoted atherosclerosis. In contrast, in mice fed fish oil, SCD1 inhibition did not result in augmented macrophage inflammatory response or severe atherosclerosis. In fact, the combined therapy of dietary fish oil and SCD1 ASO treatment effectively prevented both the metabolic syndrome and atherosclerosis. Conclusions SCD1 ASO treatment in conjunction with dietary fish oil supplementation is an effective combination therapy to comprehensively combat the metabolic syndrome and atherosclerosis in mice. PMID:19834103

  10. 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

  11. 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, El?bieta; Ró?d?y?ska-?wi?tkowska, Agnieszka; Tylki-Szyma?ska, 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

  12. Increased Serum Adipokines Implicate Chronic Inflammation in the Pathogenesis of Overactive Bladder Syndrome Refractory to Antimuscarinic Therapy

    PubMed Central

    Liu, Hsin-Tzu; Jiang, Yuan-Hong; Kuo, Hann-Chorng

    2013-01-01

    Objectives Recent studies have shown that chronic inflammation is involved in overactive bladder (OAB) syndrome. OAB could be a subtype of neurogenic inflammation. This pilot study investigated serum adipokine levels in patients with OAB refractory to antimuscarinic therapy. Methods Thirty consecutive patients with OAB-dry (n?=?16) or OAB-wet (n?=?14) refractory to previous antimuscarinic treatment were prospectively enrolled in this study, a group of 26 normal subjects without lower urinary tract symptoms served as controls. Concentrations of serum C-reactive protein (CRP), nerve growth factor (NGF), and adipokines including interleukins ([IL], IL-1?, IL-6, IL-8), tumor necrosis factor (TNF)-?, monocyte chemotactic protein (MCP)-1, insulin, and leptin were quantified using a bead-based human serum adipokine panel B kit. Data were analyzed using the LX 200 platform. Patients were further classified as having dry or wet OAB and having medical diseases or not. The serum CRP, NGF, and adipokine levels were compared between OAB patients and the controls, and between OAB subgroups. Results The serum concentrations of CRP, NGF, IL-1?, IL-6, IL-8, and TNF-? in OAB-dry and OAB-wet patients were significantly higher than among the controls. There was no significant difference in adipokine levels between OAB-dry and OAB-wet, or between OAB patients with and without medical diseases. Serum CRP and NGF levels were significantly higher only in OAB-wet or OAB patients with medical diseases than among controls. The MCP-1 levels, on the other hand, were significantly higher in OAB-dry or OAB patients with disease, than the controls. Conclusions Both OAB-dry and OAB-wet patients showed increased serum CRP, NGF, and adipokine levels compared with the controls, suggesting chronic inflammation of the bladder involving both peripheral and central mechanisms in all OAB patients refractory to antimuscarinic therapy. The increased serum adipokine levels were not relevant to medical diseases. PMID:24098552

  13. 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 ?mol/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

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

    PubMed Central

    Amoozgar, Hamid; Rafizadeh, Hashem; Ajami, Gholamhossein; Borzoee, Mohammad

    2012-01-01

    Background A paucity of data exists regarding the prevalence and relationship of hypomagnesaemia with clinical symptoms of mitral valve prolapse (MVP) in pediatric patients. Objective In this study we evaluated the prevalence of magnesium (Mg) deficiency in pediatric patients with MVP syndrome and attempted to clarify the effect of Mg therapy on alleviating their symptoms. Methods The present study was conducted from April 2010 to January 2012, and included 230 patients (90 males and 140 females) with symptoms of mitral valve prolapse and mean age of 11.6±3.66. Serum magnesium (Mg) level less than 1.5 mg/dl was defined as hypomagnesaemia. Patients with 2 mm leaflet displacement and maximum leaflet thickness of 5 mm in echocardiography were considered to have classic MVP, while those with leaflet thickness less than 5 mm were considered as non-classic MVP. Patients with hypomagnesaemia were orally treated with 4.5 mg/kg/day Mg chloride for 5 weeks followed by re-evaluation of symptoms of chest pain, palpitation, fatigue and dyspnea. Results Hypomagnesaemia was found in 19 (8.2 %) of 230 patients with mitral valve prolapse. The re-evaluation of patients with Hypomagnesaemia after 5 weeks of Mg therapy, showed statistically significant relief of chest pain (P=0.01). However, no significant changes was detected in regard to palpitation (P=0.06), fatigue (P= 0.5) and dyspnea (P=0.99). Conclusion This study revealed that the prevalence of hypomagnesaemia in pediatric patients with mitral valve prolapse is relatively low compared to adults, but treatment with oral Mg in patient with hypomagnesaemia decreases chest pain. PMID:24757600

  15. Effect of Combination Therapy on Cardiovascular Risk in the Pit Miners with Hypertension, Metabolic Syndrome and Depression

    PubMed Central

    Becarevic, Munevera; Barakovic, Fahir; Batic-Mujanovic, Olivera; Beganlic, Azijada

    2014-01-01

    Background: Higher cardiovascular (CV) morbidity and mortality in depressed patient has demonstrated repeatedly. Aim: Determine the degree of occurrence of hypertension, metabolic syndrome (MetS) and depression in the pit miners and the impact of the six-month holistic treatment of all CV risk factors and depression in the overall CV risk in miners with hypertension, MetS and depression. Methods: From 492 pit miners was taken smoking status, measured blood pressure, waist circumference and body mass index. Analysis was done using the concentration of sugar in blood, triglycerides, total cholesterol, HDL, LDL cholesterol and determined total CV risk. All respondents filled self-assessment Beck's depression scale. Prevalence MetS hypertension and depression were determined. Group of 67 patients with joint hypertension, MetS and depression that is treated six months with psychotropic and somatotropin medication, was singled out. After six months, the effect of therapy on the risk factors and total CV was assessed. Results: Among 492 miners 67 (13,61%) of them had hypertension, MetS and depression. After six months treatment, it showed statistically significant reduction in blood pressure (p=0,0001), waist circumference (p=0,0001) ,total (p=0,002), HDL (p=0,007) and LDL cholesterol (p=0,003), smoking (p=0,002), Beck's scale results (p=0,007) and reduction in total CV risk. Conclusion: After six month of combine therapy in respondents has led to reduced CV risk and level of all factors, except BMI and triglycerides. PMID:24944535

  16. [Resistance to therapy in primary nephrotic syndrome: effect of MDR1 gene activity].

    PubMed

    Stachowski, J; Zanker, C B; Runowski, D; Zaniew, M; Peszko, A; Medy?ska, A; Zwoli?ska, D; Rogowska-Kalisz, A; Hyla-Klekot, L; Szprygner, K; Weglarska, J; Sieniawska, M; Musia?, W; Maciejewski, J; Baldamus, C A

    2000-04-01

    MDR1 gene encodes for a transmembranous glycoprotein, gp-170, which acts as a drug export pump and is also a cyclosporine(CsA)-binding protein. This study aimed at evaluating MDR1 expression in NS sensitive(S) and resistant(R) to therapy (steroids/S/, cyclophosphamide/C/, CsA) patients. Twenty six boys, 13 girls aged 3-8 years were included to the study. MDR1 was analysed using: 1) evaluation of gp-170 activity according to DiC2/3/ [3,3-Diethyloxa-carbocyanine Iodide] by means of flow cytometry and as 2) mRNA expression of MDR1 determined by RT-PCR. The analysis was performed in the lymphocyte subset CD4/CD45RA presenting suppressor-inducer activity. Negative control, Jurkat-T-cell line, not expressing the MDR1 phenotype, was transfected with viral expression vector containing a full-length cDNA for the human MDR1 gene. We found that: in SR-NS the high expression of MDR1 was associated mainly with the suppressor-inducer T-cells (CD45RA+CD4+) and was subsequently enhanced during an ineffective treatment with C and/or CsA. C-R-NS and CsA-R-NS were partially reversible by S- and R-Verapamil; this was in vitro confirmed by inhibition of export pump activity, gp-170. SS-NS, C-S-NS and CsA-S-NS presented the low expression and activity of MDR1 comparing to R-children (p < 0.001) and healthy controls (p < 0.00001). Resistance to therapy in NS patients seems to be resulted from the enhanced expression of MDR1 gene and subsequent high activity of export pump P-gp-170. Calcium channel blockers may reverse the MRD1-related resistance in the therapy of NS. Analysis of MDR1 may help to detect of suspected therapy resistance in NS. PMID:10897619

  17. 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

  18. Acupuncture therapy is more effective than artificial tears for dry eye syndrome: evidence based on a meta-analysis.

    PubMed

    Yang, Lei; Yang, Zongguo; Yu, Hong; Song, Hui

    2015-01-01

    Background. The efficacy of acupuncture in dry eye syndrome patients remains controversial. Methods. Pubmed, Ovid, Cochrane libraries, CNKI, Wanfang, and CQVIP databases were electronically searched until October 1, 2014. Outcomes including tear break-up time (BUT), Schirmer I test (SIT), and cornea fluorescein staining (CFS) were analyzed. A meta-analysis was performed using both fixed- and random-effects models based on heterogeneity across studies. Results. Seven studies were included in this study; 198 and 185 patients were randomly treated with acupuncture and artificial tears, respectively. The overall BUT of patients in acupuncture group was significantly longer than that of the artificial tears group after treatment (P < 0.00001). The SIT was significantly higher in the acupuncture group than that in the artificial tears group after treatment (P = 0.001). The CFS of patients in acupuncture group was significantly improved compared to that in artificial group (P < 0.0001). Conclusions. Acupuncture therapy is effective for the dry eye patients, partly better than artificial tear treatment. PMID:25960747

  19. In vitro evaluation of mismatched double-stranded RNA (ampligen) for combination therapy in the treatment of acquired immunodeficiency syndrome.

    PubMed

    Montefiori, D C; Robinson, W E; Mitchell, W M

    1989-04-01

    Multiple drug effect analyses with mismatched double-stranded RNA (mismatched dsRNA or Ampligen) as a core drug were performed to identify other agents and mechanisms through which mismatched dsRNA may potentiate effective therapeutic intervention in human immunodeficiency virus (HIV) infection. Antiviral activities were defined by a microtiter infection assay utilizing MT-2 cells as targets and HTLV-III-B produced in H9 cells as a virus source. The scope of agents tested included rIFN-alpha A, rIFN-beta Ser 17, and rIFN-gamma as cytokines; azidothymidine and phosphonoformate (Foscarnet) as inhibitors of reverse transcription; ribavirin as a putative inhibitor of proper HIV mRNA capping; amphotericin B as a lipophile; and castanospermine as a glycoprotein processing (glucosidase I) inhibitor. Separately, each drug demonstrated dose-dependent anti-HIV activity and, when used in combination with mismatched dsRNA, demonstrated synergism. Although mismatched dsRNA was synergistic with all three IFNs for anti-HIV activity in microtiter infection assays, it did not potentiate the transient inhibition of virus production observed for IFN in cultures of H9/HTLV-III-B cells. The results of these studies suggest that the pleiotropic activities of dsRNAs differ from those of IFN and may provide synergism in combination therapy with a wide range of antiviral drugs for the treatment of the acquired immunodeficiency syndrome (AIDS). PMID:2469450

  20. Discrimination of various thalassemia syndromes and iron deficiency and utilization of reticulocyte measurements in monitoring response to iron therapy.

    PubMed

    Winichagoon, Pranee; Kumbunlue, Rawiprapa; Sirankapracha, Pornpan; Boonmongkol, Piathip; Fucharoen, Suthat

    2015-04-01

    Decreased hemoglobinization of red cells resulting in hypochromia and microcytosis are the main features of thalassemia syndromes, and also of iron deficiency anemia (IDA). A simple and reliable method is required to distinguish the two conditions in the routine laboratories. In this study we analyzed the red cell and reticulocyte parameters from 414 samples of various types of thalassemias and IDA and discovered a variety of discriminating criteria including a discrimination index (DI) which should be useful for differential diagnosis. Slightly decreased MCV and CH are suggestive of ?-thalassemia 2, Hb CS, and Hb E heterozygotes whereas the increased Rbc counts are obvious in ?-thalassemia 1 and ?-thalassemia. In Hb E, the number of microcytic red cells was greater than the number of hypochromic red cells resulting in an increased M/H ratio. Hb H diseases are characterized by a higher number of hypochromic red cells and decreased CHCM, while broadening of hemoglobin concentration histogram results in increased HDW in ?-thalassemia diseases. Iron deficiency anemia results in hypochromic-microcytic red cells and increased RDW. The number of reticulocyte with %High Retic and CHr value were increased in the first month of iron supplementation indicating the response to iron therapy. PMID:25633854

  1. Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model

    PubMed Central

    Das, Ishita; Park, Joo-Min; Shin, Jung H.; Jeon, Soo Kyeong; Lorenzi, Hernan; Linden, David J.; Worley, Paul F.; Reeves, Roger H.

    2014-01-01

    Down syndrome (DS) is among the most frequent genetic causes of intellectual disability, and ameliorating this deficit is a major goal in support of people with trisomy 21. The Ts65Dn mouse recapitulates some major brain structural and behavioral phenotypes of DS, including reduced size and cellularity of the cerebellum and learning deficits associated with the hippocampus. We show that a single treatment of newborn mice with the sonic hedgehog pathway agonist, SAG1.1 (SAG), results in normal cerebellar morphology in adults. Further, SAG treatment at birth rescued phenotypes associated with hippocampal deficits that occur in untreated adult Ts65Dn mice. This treatment resulted in behavioral improvements and normalized performance in the Morris Water Maze task for learning and memory. SAG treatment also produced physiological effects and partially rescued both NMDA receptor dependent synaptic plasticity and NMDA/AMPA receptor ratio, physiological measures associated with memory. These outcomes confirm an important role for the hedgehog pathway in cerebellar development and raise the possibility for its direct influence in hippocampal function. The positive results from this approach suggest a possible direction for therapeutic intervention to improve cognitive function for this population. PMID:24005160

  2. 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

  3. Nephrotic syndrome in a multiple sclerosis patient receiving long-term interferon beta therapy.

    PubMed

    Wallbach, Manuel; Gröne, Herman J; Kitze, Bernd; Müller, Gerhard A; Koziolek, Michael J

    2013-05-01

    Recombinant interferon ? (IFN-?) and interferon ? (IFN-?) are efficient drugs for clinical use in multiple sclerosis, hepatitis C virus infection, and malignant diseases. We report a case of a 40-year-old woman with relapsing-remitting multiple sclerosis who was treated with interferon beta-1b for several years before being admitted to our department with nephrotic-range proteinuria (protein excretion, 8.3 g/d) and serum albumin level of 2.9 g/dL without any clinical and laboratory change typical for a systemic autoimmune disease. The kidney biopsy led to the diagnosis of immune complex-mediated membranoproliferative glomerulonephritis with immunoglobulin and complement deposits visible by immunohistology, as well as subendothelial deposits and tubuloreticular inclusions evident by electron microscopy. Subsequently replacing interferon beta-1b with glatiramer acetate resulted in partial remission, with proteinuria decreasing to protein excretion of 1.0 g/d 2 months thereafter. The association of a focal mesangiocapillary glomerular change and immunoglobulin-complement deposits with tubuloreticular inclusions suggests lupus nephritis. To our knowledge, this is the first report of an interferon beta-1b-induced immune complex glomerulonephritis characterized by histologic, immunohistologic, and ultrastructural features that resembled lupus nephritis, but that occurred in a patient without evidence of systemic lupus erythematosus. Our review of experimental data and earlier case reports suggests a pathogenic role of recombinant IFN in some autoimmune diseases, especially those with the potency to induce systemic lupus erythematosus-like syndromes. PMID:23375818

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

    PubMed

    Muchová, J; Žit?anová, I; ?ura?ková, Z

    2014-01-01

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

  5. Combination of thrombolytic therapy and angioplastic stent insertion in a patient with Budd-Chiari syndrome.

    PubMed

    Reza, Fatemi; Naser, Daryani E; Hossein, Ganaati; Mehrdad, Zahmatkesh

    2007-07-21

    A 31-year-old female who had well-established polycythemia vera one year before, presented with the sudden onset. She had severe ascites and hepatic encephalopathy 12 d prior to admission. Real-time ultrasonography revealed a supra hepatic thrombosis extending toward the inferior vena cava (lVC). Thrombolytic therapy with systemic streptokinase (250000 IU loading + 100000 IU/h infusion) was started. At the end of 72 h infusion, the patient's general condition improved. A color Doppler ultrasonography then showed complete and partial resolution of the thrombosis in the supra hepatic vein and IVC, respectively. Despite this good response, 12 d later, the symptoms recurred. Venography detected complete obstruction of the lVC. Percutaneous balloon angioplasty with stent insertion was performed successfully and the patient was discharged without any evidence of liver disease. A combination of systemic streptokinase and radiological intervention was effective in our patient. PMID:17659745

  6. [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

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

    PubMed

    Akay, Serhat; Ozdemir, Metehan

    2008-11-01

    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

  8. [Serum lipoprotein abnormalities in patients with nephrotic syndrome and effects of steroid therapy].

    PubMed

    Kohtoku, N; Okuda, F; Shimizu, K; Takagi, H; Fujii, Z; Fujii, H; Kusukawa, R

    1989-04-01

    With polyacrylamide gel electrophoresis (PAGE), we studied serum lipoprotein (Lp) abnormalities in patients with nephrotic syndrome (NS) caused by primary glomerulonephritis. Nineteen untreated nephrotic patients were studied. Seven patients of them were followed up with PAGE in the remitting course. Serum total cholesterol, triglycerides and beta-Lp concentrations were higher in untreated patients than those in normal control. Serum HDL-cholesterol concentration was lower in untreated patients than those in normal control. PAGE showed broad midband-Lp and increased pre-beta-Lp in 16 of 19 untreated patients. Those findings suggested that untreated nephrotic patients had impaired catabolism of VLDL to LDL in peripheral tissue or impaired hepatic catabolism of IDL and LDL. Furthermore, PAGE showed decreased alpha-Lp in all patients with untreated NS. Correlation was not found between histological classification of glomerulonephritis and broad midband or hyperlipidemia. After administration of prednisolone, PAGE revealed the appearance of chylomicron, and increased pre-beta-LP and alpha-Lp. After remission, broad midband-Lp and pre-beta-Lp were markedly decreased or dis appeared in all 6 patients with broad midband-Lp in untreated phase, and serum total cholesterol and beta-Lp concentrations were markedly decreased, and HDL- cholestrol was markedly increased. In the course of remission, serum total cholesterol, triglycerides and beta-Lp concentrations had negative correlation with serum albumin concentration. Furthermore, serum total cholesterol and beta-Lp concentrations were decreased along with decrease of urinary protein excretion. The results of the present study suggest that the loss of serum albumin and/or some other substances to the urine cause broad midband. PMID:2747006

  9. 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

  10. Astrocyte glutamine synthetase: importance in hyperammonemic syndromes and potential target for therapy.

    PubMed

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

    2010-10-01

    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

  11. 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

  12. 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.

  13. 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

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

    PubMed

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

    2015-01-01

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

  15. Education, progressive muscle relaxation therapy, and exercise for the treatment of night eating syndrome. A pilot study.

    PubMed

    Vander Wal, Jillon S; Maraldo, Toni M; Vercellone, Allison C; Gagne, Danielle A

    2015-06-01

    Night eating syndrome (NES) is a circadian rhythm disorder in which food intake is shifted toward the end of the day, interfering with sleep. According to the biobehavioral model of NES, the disorder is the result of a genetic predisposition that, coupled with stress, leads to enhanced reuptake of serotonin, thereby dysregulating circadian rhythms and decreasing satiety. Using the biobehavioral model as a guide, we developed a brief behavioral intervention using education, relaxation strategies, and exercise to address the core symptoms of NES. In this pilot randomized controlled clinical trial, 44 participants with NES were randomly assigned to an educational group (E; n?=?14), E plus progressive muscle relaxation therapy (PMR; n?=?15); or PMR plus exercise (PMR Plus, n?=?15). Participants received a baseline intervention with 1- and 3-week follow-up sessions. Effectiveness analyses showed that participants in all three groups evidenced significant reductions on measures of NES symptoms (p?

  16. Single-dose cephalexin therapy for acute bacterial urinary tract infections and acute urethral syndrome with bladder bacteriuria.

    PubMed

    Cardenas, J; Quinn, E L; Rooker, G; Bavinger, J; Pohlod, D

    1986-03-01

    The efficacy of single-dose therapy with 3 g of cephalexin was evaluated in 129 women with symptoms of acute uncomplicated lower urinary tract infections. Of 91 patients with significant bacteriuria, 61 (67%) were cured of their original infection; this was similar to the 54 to 79% cure rates reported in unselected populations of women of a wide age range treated for acute uncomplicated urinary tract infections with a single dose of amoxicillin or trimethoprim-sulfamethoxazole (J. Rosenstock, L. P. Smith, M. Gurney, K. Lee, W. G. Weinberg, J. N. Longfield, W. B. Tauber, and W. W. Karney, Antimicrob. Agents Chemother. 27:652-654, 1985; N. E. Tolkoff-Rubin, M. E. Wilson, P. Zuromskis, I. Jacoby, A. R. Martin, and R. H. Rubin, Antimicrob. Agents Chemother. 25:626-629, 1984). The cure rates of (87%) for our younger patients, those less than 25 years of age, was better than that (46%) for our patients over 40 years of age (P less than 0.001). Patients with infections that were negative in an antibody-coated bacteria test were cured at a significantly higher rate than those with infections that were positive in an antibody-coated bacteria test (71 versus 19%; P = 0.003). Those patients with infections caused by cephalexin-susceptible organisms were cured at a rate similar to that for patients with infections caused by cephalexin-resistant organisms (68 versus 50%; P = 0.62). The cure rate for suburban patients was 90%, versus 45% for inner-city patients (P = 0.008). Of the 28 women with acute urethral syndrome due to low-level bacteriuria, 27 were cured. PMID:3717940

  17. Predictors of thromboxane levels in patients with non-ST-elevation acute coronary syndromes on chronic aspirin therapy.

    PubMed

    Niccoli, Giampaolo; Giubilato, Simona; Leo, Andrea; Cosentino, Nicola; Fracassi, Francesco; Cataneo, Leonardo; Porto, Italo; Leone, Antonio Maria; Burzotta, Francesco; Trani, Carlo; Biasucci, Luigi Marzio; Narducci, Maria Lucia; Pulcinelli, Fabio Maria; Crea, Filippo

    2012-07-01

    High levels of thromboxane A2 (TxA2), a key mediator of platelet activation and aggregation, are associated with an increased risk of cardiovascular events. We aimed at assessing the predictors of higher plasma levels of TxB2, the stable metabolite of TxA2, in consecutive patients presenting with non-ST-elevation acute coronary syndrome (NSTE-ACS) on previous aspirin (ASA) treatment undergoing coronary angiography. Ninety-eight consecutive patients (age 61 ± 11, 75% males) with NSTE-ACS, on previous chronic ASA treatment, were prospectively enrolled in this study. Coronary disease extent was assessed by angiography according to the Bogaty score. In all patients, admission plasma levels of TxB2 (pg/ml) were measured by enzyme-linked immunosorbent assay, and patients showing TxB2 levels in the fourth quartile were compared to patients showing TxB2 levels in the lower quartiles. Multivariable logistic regression analysis showed that platelet count (odds ratio [OR] 1.18, 95% confidence interval [CI] 1.02-1.63, p=0.04), multivessel coronary disease (OR 1.37, 95% CI 1.13-3.67, p=0.03), and coronary atherosclerosis extent index (OR 1.91, 95% CI 1.45-6.79, p=0.001) were independent predictors of TxB2 level upper quartile. Of note, C-reactive protein serum levels were similar in patients with TxB2 levels in the upper quartile as compared to those in the lower quartiles (p=0.49). In conclusion, NSTE-ACS patients with severe coronary atherosclerosis may have incomplete suppression of TxA2 production despite chronic ASA therapy. This finding suggests that additional efforts should be made to lower TxA2 levels in patients with widespread coronary artery disease. PMID:22535468

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

    PubMed

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

    2015-07-15

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

  19. 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

  20. Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance.

    PubMed

    Walton-Betancourth, S; Martinelli, C E; Thalange, N K; Dyke, M P; Acerini, C L; White, S; Camacho-Hübner, C; Savage, M O

    2007-05-01

    We report a child with Noonan syndrome, referred with severe short stature (height--5.4 SD) and biochemical features of GH resistance. The Noonan syndrome phenotype was confirmed by a clinical geneticist, however analysis of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene showed no mutation. Baseline serum IGF-I, IGFbinding protein 3 (IGFBP-3) and acid-labile subunit (ALS) were low, and in an IGF-I generation test, IGF-I did not increase into the normal range and IGFBP-3 and ALS did not change. These results are consistent with GH resistance. Treatment with human GH (hGH) was given in a dose of 0.05 mg/kg/day and height velocity increased from 5.6 to 10.7 cm/yr during the first year, and 8.9 cm/yr during the second year of therapy. Height standard deviation score has increased by 1.85 after 2 and a half yr of therapy. Serum IGF-I, IGFBP-3 and ALS values increased well into the normal range. This case shows that the potential value of GH therapy must be evaluated in each patient individually and that an excellent response may occur in a child with a PTPN11-negative genotype. PMID:17598979

  1. Massage treatment and medial tibial stress syndrome; A commentary to provoke thought about the way massage therapy is used in the treatment of MTSS.

    PubMed

    Fogarty, Sarah

    2015-07-01

    As students and practitioners we are taught about the treatment and causative factors of medial shin pain, in particular' shin splints' or the more recent term; medial tibial stress syndrome (MTSS). During the years there have been many theories, conjecture and misunderstandings about the mechanisms of 'shin splints/medial tibial stress syndrome' however the ramifications of these mechanisms on how massage treatment is delivered have not being discussed. The evidence for the treatment of MTSS is largely clinical with little evidence of any treatment being proven to be effective in treating MTSS. The aim of this article is to present a summary of the mechanisms of MTSS and a commentary to provoke thought about the way massage therapy is used in the treatment of MTSS based on these mechanisms. PMID:26118516

  2. Rationale and design of the Anti-Xa Therapy to Lower cardiovascular events in Addition to standard therapy in Subjects with Acute Coronary Syndrome–Thrombolysis in Myocardial Infarction 51 (ATLAS-ACS 2 TIMI 51) trial: A randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of rivaroxaban in subjects with acute coronary syndrome

    Microsoft Academic Search

    C. Michael Gibson; Jessica L. Mega; Paul Burton; Shinya Goto; Freek Verheugt; Christoph Bode; Alexei Plotnikov; Xiang Sun; Nancy Cook-Bruns; Eugene Braunwald

    2011-01-01

    BACKGROUND: Although therapy with aspirin or aspirin plus a thienopyridine reduces the incidence of long-term adverse cardiovascular events among patients with acute coronary syndrome (ACS), there remains a significant residual risk of cardiovascular death, recurrent myocardial infarction (MI), and stroke. In a phase 2 trial (ClinicalTrials.gov NCT00402597) in which the addition of the factor Xa inhibitor rivaroxaban was compared with

  3. Paroxysmal Nocturnal Hemoglobinuria Following Alemtuzumab Immunosuppressive Therapy for Myelodysplastic Syndrome and Complicated by Recurrent Life-Threatening Thrombosis Despite Anticoagulation: Successful Intervention with Eculizumab and Fondaparinux

    PubMed Central

    Cheng, Kit L.; Brody, Judith; Warshall, Craig E.; Sloand, Elaine M.; Allen, Steven L.

    2009-01-01

    The pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) is not fully understood. We report a patient with myelodysplastic syndrome who developed symptomatic PNH following treatment with alemtuzumab. A small PNH clone, identified prior to alemtuzumab, expanded resulting in hemolytic anemia and recurrent CNS thromboses despite anticoagulation. Remission was achieved with eculizumab and fondaparinux therapy. Alemtuzumab has been associated with the development of glycosylphosphotidylinositol negative cells, but its clinical significance has been unclear. Our case emphasizes its potential clinical importance. Future studies are necessary to expand our understanding of this rare disease entity and improve its management. PMID:19836075

  4. [Removal of epidural catheter under dual antiplatelet therapy following acute coronary syndrome : scenario without special consideration to the current guidelines on epidural regional anesthesia].

    PubMed

    Limper, U; Lynch, J

    2012-08-01

    This article reports the case of a patient who developed acute coronary syndrome while receiving postoperative pain treatment via an epidural catheter (EC). Platelet function testing was performed before removal of the EC to assess the bleeding risk under ongoing dual antiplatelet therapy. Platelet function testing showed low responsiveness to clopidogrel and acetylsalicylic acid (ASS). The EC was removed uneventfully and clopidogrel was subsequently replaced by prasugrel and platelet function showed improved depression of thrombocyte aggregation. Possible reasons for low responsiveness to clopidogrel and ASS, such as drug-drug interactions with proton pump inhibitors and genetic factors are discussed. PMID:22847559

  5. Bronchiolitis obliterans organizing pneumonia syndrome in breast-conserving therapy for early breast cancer: Radiation-induced lung toxicity

    Microsoft Academic Search

    Nagio Takigawa; Yoshihiko Segawa; Toshiaki Saeki; Masaaki Kataoka; Mikiko Ida; Daizo Kishino; Keiichi Fujiwara; Shozo Ohsumi; Kenji Eguchi; Shigemitsu Takashima

    2000-01-01

    Purpose: Breast-conserving surgery and postoperative radiotherapy have played important roles in the treatment of early breast cancer. Bronchiolitis obliterans organizing pneumonia (BOOP) syndrome has recently been reported to be one of the complications of adjuvant radiotherapy. The purpose of this study was to determine the incidence of and risk factors for BOOP syndrome in breast cancer patients.Methods and Materials: Between

  6. 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

  7. Genetics Home Reference: Troyer syndrome

    MedlinePLUS

    ... treatment providers. Gene Review: Hereditary Spastic Paraplegia Overview Gene Review: Troyer Syndrome Genetic Testing Registry: Troyer syndrome Spastic Paraplegia Foundation, Inc.: Treatments and Therapies You might also find information on the diagnosis ...

  8. Quantifying the Evidence for the Risk of Metabolic Syndrome and Its Components following Androgen Deprivation Therapy for Prostate Cancer: A Meta-Analysis

    PubMed Central

    Bosco, Cecilia; Crawley, Danielle; Adolfsson, Jan; Rudman, Sarah; Van Hemelrijck, Mieke

    2015-01-01

    Background No meta-analysis is yet available for the risk of metabolic syndrome (MetS) following androgen deprivation therapy (ADT) for men with prostate cancer. To summarize the evidence for the link between ADT and MetS or its components quantitatively with a meta-analysis including all studies published to date. Methods PubMed and Embase were searched using predefined inclusion criteria to perform meta-analyses on the association between metabolic syndrome, hyperglycemia, diabetes, hypertension, dyslipidemia or obesity and androgen deprivation therapy in patients with prostate cancer. Random effects methods were used to estimate pooled relative risks (RRs) and 95% confidence intervals (CI). Results A total of nine studies was included. There was a positive association between ADT and risk of MetS (RR: 1.75 (95% CI: 1.27–2.41)). Diabetes was the only MetS component present in more than 3 studies, and also showed an increased risk following ADT (RR: 1.36 (95% CI: 1.17–1.58)). Conclusion This is the first quantitative summary addressing the potential risk of MetS following ADT in men with PCa. The positive RRs indicate that there is a need to further elucidate how type and duration of ADT affect these increased risks of MetS and diabetes as the number of men with PCa treated with ADT is increasing. PMID:25794005

  9. 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

  10. 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

  11. Hepatorenal syndrome.

    PubMed

    Bataller, R; Ginčs, P; Guevara, M; Arroyo, V

    1997-01-01

    Hepatorenal syndrome is a common complication in patients with advanced cirrhosis and ascites characterized not only by renal failure but also by marked alterations in systemic hemodynamics and vasoactive systems. Renal failure is due to a marked hypoperfusion of the kidney secondary to renal vasoconstriction. The pathogenesis of hepatorenal syndrome is not completely known but it is thought to be the extreme manifestation of the underfilling of the arterial circulation secondary to an arterial vasodilation, located mainly in the splanchnic circulation. Recently, a new definition and diagnostic criteria of hepatorenal syndrome have been proposed, which has stimulated research in this field. Prognosis of patients with hepatorenal syndrome is very poor. Liver transplantation is the only effective treatment but it is not applicable in all patients due to short survival. New therapies developed during the last few years, such as the use of systemic vasoconstrictors or transjugular intrahepatic portosystemic shunts appear promising, but their usefulness should be evaluated in prospective investigations. PMID:9308128

  12. A case of tension pneumothorax during hyperbaric oxygen therapy in an earthquake survivor with crush injury complicated by ARDS (adult respiratory distress syndrome).

    PubMed

    Cakmak, Tolga; Battal, Bilal; Kara, Kemal; Metin, Suleyman; Demirbas, Seref; Yildiz, Senol; Uzun, Gunalp

    2015-01-01

    Pneumothorax (PTX) is rarely reported in patients receiving hyperbaric oxygen (HBO2) therapy. Patients with air-trapping lesions in the lungs and those with a history of spontaneous PTX, lung disease, mechanical ventilation or chest trauma are at an increased risk for PTX during HBO2 therapy. A 28-year-old male earthquake survivor was referred to our center for multiple wounds 21 days after being rescued from the debris. He had been intubated and put on mechanical ventilation for three days because of adult respiratory distress syndrome (ARDS). At initial presentation, he was conscious, well-oriented and hemodynamically stable. The initial six HBO2 treatments were uneventful. On the seventh HBO2 treatment, the patient lost consciousness and developed cardiopulmonary arrest near the end of decompression. The HBO2 specialist accompanying the patient inside the chamber immediately initiated CPR. A diagnosis of tension PTX was made. After the patient was removed from the chamber, a chest tube was inserted, which improved the symptoms. Although rare, tension PTX can occur during HBO2 therapy. Early diagnosis and intervention are crucial for saving a patient's life. Increased vigilance is required during treatment of patients with risk factors for PTX. PMID:26094299

  13. The effects of vagus nerve stimulation therapy on patients with intractable seizures and either Landau–Kleffner syndrome or autism

    Microsoft Academic Search

    Yong D. Park

    2003-01-01

    Acquired and developmental comorbid conditions, including language and behavioral disorders, are often associated with epilepsy. Although the relationship between these disorders is not fully understood, their close association may indicate that they share common features, suggesting that these conditions may respond to the same therapies. Not only has vagus nerve stimulation (VNS) therapy been proven to reduce the frequency of

  14. Vertebral axial decompression therapy for pain associated with herniated or degenerated discs or facet syndrome: An outcome study

    Microsoft Academic Search

    Earl E. Gose; William K. Naguszewski; Robert K. Naguszewski

    The outcomes of vertebral axial decompression (DECOMPRESSION) therapy for patients with low back pain from various causes are reported. Data was collected from twenty-two medical centers for patients who received DECOMPRESSION therapy for low back pain, which was sometimes accompanied by referred leg pain. Only patients who received at least ten sessions and had a diagnosis of herniated disc, degenerative

  15. Gentle thawing of the frozen shoulder: A prospective study of supervised neglect versus intensive physical therapy in seventy-seven patients with frozen shoulder syndrome followed up for two years

    Microsoft Academic Search

    Ronald L. Diercks; Martin Stevens

    2004-01-01

    Seventy-seven patients with idiopathic frozen shoulder syndrome were included in a prospective study to compare the effect of intensive physical rehabilitation treatment, including passive stretching and manual mobilization (stretching group) versus supportive therapy and exercises within the pain limits (supervised neglect group). There were no significant differences in age, sex, time elapsed since onset, and disease severity at inclusion. All

  16. The effects of exercise training on abdominal visceral fat, body composition, and indicators of the metabolic syndrome in postmenopausal women with and without estrogen replacement therapy: The HERITAGE family study

    Microsoft Academic Search

    John S. Green; Philip R. Stanforth; Tuomo Rankinen; Arthur S. Leon; D. C. Rao; James S. Skinner; Claude Bouchard; Jack H. Wilmore

    2004-01-01

    The purpose of this research was to investigate the effects of apriori estrogen replacement therapy (ERT) and endurance exercise training in postmenopausal women on abdominal visceral fat (AFV) and other selected variables related to body composition and the metabolic syndrome (MS). Forty-eight healthy and previously sedentary postmenopausal women (mean age, 54.3 years) who were enrolled in the HERITAGE Family Study

  17. Assessment of the effectiveness of interferential current therapy and TENS in the management of carpal tunnel syndrome: a randomized controlled study.

    PubMed

    Koca, Irfan; Boyaci, Ahmet; Tutoglu, Ahmet; Ucar, Mehmet; Kocaturk, Ozcan

    2014-12-01

    We assessed the effectiveness of interferential current (IFC) and transcutaneous electrical nerve stimulation (TENS) therapies in the management of carpal tunnel syndrome (CTS) compared with splint therapy, a standard treatment modality for CTS. This was a prospective, single-blinded, single-center, randomized, three-group parallel intervention study of 3 weeks duration. Efficacy was examined in the third week after the end of treatments. Subjects were assigned randomly to one of three groups: group I patients received splint therapy, group II patients received TENS applied on the palmar surface of the hand and the carpal tunnel, and group III patients underwent IFC therapy applied on the palmar surface of the hand and the volar surface of the forearm. TENS and ICF treatments were applied five times weekly for a total of 15 sessions. Group 1 patients were stabilized with volar wrist splints for 3 weeks. The efficacy of the therapies was assessed before initiation of therapy and at 3 weeks after completion of therapy using a visual analog scale (VAS), a symptom severity scale, the functional capacity scale of the BCTQ, and measurement of median nerve motor distal latency (mMDL) and median sensory nerve conduction velocity (mSNCV). Groups were compared pairwise using the Mann-Whitney U test to identify the source of differences between groups. The Wilcoxon test was used to analyze changes in variables over time within a group. In the VAS, BCTQ, MDL, and mSNCV, no significant difference was observed between the groups (p > 0.05). In the VAS, BCTQ, and mSNCV, statistically significant improvements were detected in all groups (p < 0.05). There was no statistically significant difference between TENS and splint therapy with respect to improvement in clinical scores, whereas IFC therapy provided a significantly greater improvement in VAS, mMDL, and mSNCV values than splint therapy (VAS: 4.80 ± 1.18 and 6.37 ± 1.18; p = 0.001, mMDL: 3.89 ± 0.88 and 4.06 ± 0.61; p = 0.001, mSNCV: 41.80 ± 1.76 and 40.75 ± 1.48; p = 0.010). IFC therapy provided a significantly greater improvement in VAS, symptom severity, functional capacity, and mMDL and mSNCV values than TENS therapy (VAS: 4.80 ± 1.18 and 6.68 ± 1.42; p < 0.001, symptom severity: 2.70 ± 1.03 and 3.37 ± 1.21; p = 0.015, functional capacity: 1.90 ± 1.21 and 2.50 ± 0.78; p = 0.039, mMDL: 3.89 ± 0.88 and 4.06 ± 0.88; p = 0.003, and mSNCV: 41.80 ± 1.76 and 41.38 ± 1.78; p = 0.021). IFC may be considered a new and safe therapeutic option for the treatment of CTS. PMID:24728028

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

    ERIC Educational Resources Information Center

    Cardaciotto, LeeAnn; Herbert, James D.

    2004-01-01

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

  19. 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

  20. [A case of acute respiratory distress syndrome associated with pandemic influenza A (H1N1) pneumonia which was aggravated by the cessation of corticosteroid therapy].

    PubMed

    Hibino, Makoto; Akazawa, Kenichiro; Hikino, Koji; Oe, Motoki

    2011-12-01

    A 72-year-old man was admitted to the intensive care unit of our hospital with acute respiratory distress syndrome (ARDS). A chest CT scan showed diffuse consolidations and ground-glass opacities in both lungs. We diagnosed ARDS secondary to community-acquired pneumonia. We then started mechanical ventilation with airway pressure release ventilation and treated him with antibiotics, peramivir, and corticosteroids, despite negative results for a rapid antigen test for influenza. Bronchial lavage on day 10 showed blood-tinged fluid and hemosiderin-laden macrophages, but no bacteria or fungi. Real-time reverse-transcriptase polymerase chain reaction testing yielded a positive result for pandemic influenza A (H1N1). The mechanical ventilator was removed on day 15, corticosteroid administration was discontinued on day 22 and antibiotics were discontinued on day 23. However, he had a fever on day 28, pleural pain and dyspnea on day 29, and exacerbation of the infiltration as demonstrated on chest CT on day 30. On day 31, repeat bronchoalveolar lavage showed an increase in the number of total cells which were lymphocyte-predominant, but there were no pathogens. We believed that this clinical exacerbation might have occurred due to the re-exacerbation of pandemic influenza A (H1N1) pneumonia due to the cessation of corticosteroids. The re-administration of corticosteroids was effective, and were eventually tapered. Currently, the use of corticosteroid therapy for severe pandemic influenza A (H1N1) pneumonia is controversial, but even the late administration of corticosteroid therapy may be effective. However, this case also suggests that the early administration of corticosteroid therapy as immunomodulation might be effective in selected cases, and that cessation of such therapy during the early phase of ARDS may cause exacerbation of clinical symptoms. PMID:22352059

  1. Imported Acquired Immunodeficiency Syndrome–Related Histoplasmosis in Metropolitan France: A Comparison of Pre–Highly Active Anti-Retroviral Therapy and Highly Active Anti-Retroviral Therapy Eras

    PubMed Central

    Peigne, Vincent; Dromer, Françoise; Elie, Caroline; Lidove, Olivier; Lortholary, Olivier

    2011-01-01

    Histoplasma capsulatum var. capsulatum infection is rare outside disease-endemic areas. Clinical presentation and outcome of acquired immunodeficiency syndrome–related histoplasmosis are unknown in non-endemic areas with wide access to highly active anti-retroviral therapy (HAART). Retrospective analysis of cases recorded at the French National Reference Center for Mycoses and Antifungals during two decades: pre-HAART (1985–1994) and HAART (1997–2006). Clinical features and outcome of all adults with proven acquired immunodeficiency syndrome–related histoplasmosis were compared between the two periods. One hundred four patients were included (40 during the pre-HAART era and 64 during the HAART era). Diagnosis was established a mean of 62 days after onset of symptoms. One-year overall mortality rates decreased from 53% (pre-HAART era) to 22% (HAART era). Diagnosis during the pre-HAART era and an older age were the only independent factors associated with death. Histoplasmosis is a rare invasive fungal infection outside disease-endemic areas. Its prognosis improved significantly during the HAART era. PMID:22049053

  2. 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. (Medizinische Universitaet zu Luebeck (Germany) Tufts-New England Medical Center, Boston, MA (United States)); Huang, Q. (Massachusetts Eye and Ear Infirmary, Boston, MA (United States)); Sinnecker, G.H.G.; Kruse, K. (Medizinische Universitaet zu Luebeck (Germany)); Sadeghi-Nejad, A.; Wolfe, H.J. (Tufts-New England Medical Center, Boston, MA (United States)); Yandell, D.W. (Massachusetts Eye and Ear Infirmary, Boston, MA (United States))(Harvard Medical School, Boston, MA (United States) Harvard School of Public Health, Boston, MA (United States))

    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.

  3. Facts about Down Syndrome

    MedlinePLUS

    ... of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention ...

  4. Long-Term Effectiveness and Compliance of Positional Therapy with the Sleep Position Trainer in the Treatment of Positional Obstructive Sleep Apnea Syndrome

    PubMed Central

    van Maanen, J. Peter; de Vries, Nico

    2014-01-01

    Study Objectives: To investigate effectiveness, long-term compliance, and effects on subjective sleep of the Sleep Position Trainer (SPT) in patients with position-dependent obstructive sleep apnea syndrome (POSAS). Design: Prospective, multicenter cohort study. Patients or Participants: Adult patients with mild and moderate POSAS were included. Interventions: Patients asked to use the SPT for 6 mo. At baseline and after 1, 3, and 6 mo, questionnaires would be completed: Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Functional Outcomes of Sleep Questionnaire (FOSQ), and questions related to SPT use. Measurements and Results: One hundred forty-five patients were included. SPT use and SPT data could not be retrieved in 39 patients. In the remaining 106 patients, median percentage of supine sleep decreased rapidly during SPT's training phase (day 3 to 9) to near-total avoidance of supine sleep. This decrease was maintained during the following months of treatment (21% at baseline versus 3% at 6 mo). SPT compliance, defined as more than 4 h of nightly use, was 64.4%. Regular use, defined as more than 4 h of usage over 5 nights/w, was 71.2%. Subjective compliance and regular use were 59.8% and 74.4%, respectively. Median ESS (11 to 8), PSQI (8 to 6), and FOSQ (87 to 103) values significantly improved compared with baseline. Conclusions: Positional therapy using the Sleep Position Trainer (SPT) effectively diminished the percentage of supine sleep and subjective sleepiness and improved sleep related quality of life in patients with mild to moderate position-dependent obstructive sleep apnea syndrome. SPT treatment appeared to have sustained effects over 6 months. SPT compliance and regular use rate were relatively good. Subjective and objective compliance data corresponded well. The lack of a placebo-controlled group limited the efficacy of conclusions. Citation: van Maamen JP, de Vries N. Long-term effectiveness and compliance of positional therapy with the Sleep Position Trainer in the treatment of positional obstructive sleep apnea syndrome. SLEEP 2014;37(7):1209-1215. PMID:25061249

  5. Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

    PubMed Central

    Piotrowska, Ewa; Jakóbkiewicz-Banecka, Joanna; Tylki-Szymanska, Anna; Liberek, Anna; Maryniak, Agnieszka; Malinowska, Marcelina; Czartoryska, Barbara; Puk, Ewa; Kloska, Anna; Liberek, Tomasz; Baranska, Sylwia; Wegrzyn, Alicja; Wegrzyn, Grzegorz

    2008-01-01

    Background: Mucopolysaccharidoses (MPSs) are a group of severe metabolic disorders caused by deficiencies in enzymes involved in the degradation of glycosaminoglycans (GAGs)—long chains of sugar carbohydrates in cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue. Although enzyme replacement therapy has become available for the treatment of some types of MPS, effective treatment of neurodegenerative forms of MPS has yet to be determined. Recently, genistein (4',5,7-trihydroxyisoflavone), a specific inhibitor of protein tyrosine kinase, has been found to inhibit GAG synthesis and to reduce GAG concentrations in cultures of fibroblasts of MPS patients. Therefore, a potential substrate reduction therapy has been proposed. Objective: The aim of this study was to examine urinary GAG concentration, hair morphology, and cognitive function in patients receiving genistin treatment for Sanfilippo syndrome (MPS type III). Methods:Patients aged 3 to 14 years with a biochemically confirmed diagnosis of MPS IIIA or MPS IIIB were eligible to enroll in this open-label, pilot study. Genistin-rich soy isoflavone extract 5 mg/kg/d was administered PO for 12 months. Urinary GAG concentration, hair morphology,and cognitive function (measured using a modified version of the Brief Assessment Examination [BAE] and parent observations)were measured at baseline and after 12 months of treatment. Results: Ten patients (6 girls, 4 boys; mean age, 8 years [range,3\\2-14 years];mean weight, 28 kg [range, 17\\2-43 kg]) were included in the study. All patients had Sanfilippo syndrome; 5 patients had MPS IIIA and 5 had MPS IIIB. After 1 year, statistically significant improvement was found in urinary GAG concentration, hair morphology, and cognitive function. Urinary GAG concentration decreased significantly in all 5 patients with MPS IIIA and in 2 patients with MPS IIIB (P = 0.028). Hair morphology improved significantly in all 5 MPS IIIA patients and in 3 MPS IIIB patients (P = 0.012). A significant increase in the BAE score (by 2-6 points) was noted in 8 patients, while the scores of 2 patients did not change after 12 months of treatment (P = 0.012). No adverse events (AEs) considered related to treatment were reported. Moreover, no AEs not related to the treatment (apart from classical symptoms of MPS III) were noted. Conclusions: This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year. Clinical trials are needed to evaluate the efficacy and safety of this potential treatment. PMID:24692796

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

    Microsoft Academic Search

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

    2008-01-01

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal\\u000a enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues\\u000a and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients,\\u000a neurological decline. Death usually occurs in the second decade of life, although

  7. Neuropsychological investigations and event-related potentials in obstructive sleep apnea syndrome before and during CPAP-therapy

    Microsoft Academic Search

    Sylvia Kotterba; Kurt Rasche; Walter Widdig; Christina Duscha; Svenja Blombach; Gerhard Schultze-Werninghaus; Jean-Pierre Malin

    1998-01-01

    Patients with obstructive sleep apnea syndrome (OSAS) suffer from daytime sleepiness and a decline of cognitive functions. The study evaluated whether special cognitive disabilities predominate in OSAS. Besides the number connection test (ZVT), judging information processing and working velocity, computer-assisted (Wiener Testsystem and Zimmermann Testbatterie) neuropsychological testing was performed in 31 OSAS patients (50.1±9.4 years) before starting nasal continuous positive

  8. 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

  9. 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

  10. Hepatorenal syndrome.

    PubMed

    Turban, Sharon; Thuluvath, Paul J; Atta, Mohamed G

    2007-08-14

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review. PMID:17696221

  11. Resistance to Rituximab Therapy and Local BAFF Overexpression in Sjögren’s 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 Sjögren’s 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

  12. Streptococcal Toxic Shock syndrome.

    PubMed

    Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

    2014-09-01

    Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control. PMID:24297338

  13. [Use of local injections of tolperisone (midocalm) in combination with tractional therapy in the treatment of vertebral static syndrome].

    PubMed

    Zakharov, Ia Iu; Kutarev, R V; Shelkov, S N; Suslov, S A

    2007-01-01

    A randomized double-blind study of the efficacy of midocalm combined with tractional therapy has been carried out in 24 patients (indexed group) comparing to the tractional therapy without midocalm (the drug has been substituted with placebo) in 25 patients (comparison group). The effective number of injections was 3-6 in the indexed group and 7 in the comparison group. A quantitative assessment revealed that in the indexed group treatment efficacy was 1,56 times higher and the effect achieved sooner than in the comparison group. PMID:18379519

  14. Genetics Home Reference: Down syndrome

    MedlinePLUS

    ... Language National Down Syndrome Society: Health Care National Down Syndrome Society: Therapies and Development You might also find information on ... Naming Guidelines and How are genetic conditions and genes named? in the ... syndrome? Ask the Genetic and Rare Diseases Information Center . ...

  15. 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 K?vanç; Sar?kaya, 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

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

    PubMed Central

    2014-01-01

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

  17. Analysis of Copper and Zinc Plasma Concentration and the Efficacy of Zinc Therapy in Individuals with Asperger’s Syndrome, Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) and Autism

    PubMed Central

    Russo, A.J.; deVito, Robert

    2011-01-01

    Aim To assess plasma zinc and copper concentration in individuals with Asperger’s Syndrome, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) and autistic disorder, and to analyze the efficacy of zinc therapy on the normalization of zinc and copper levels and symptom severity in these disorders. Subjects and methods Plasma from 79 autistic individuals, 52 individuals with PDD-NOS, 21 individuals with Asperger’s Syndrome (all meeting DSM-IV diagnostic criteria), and 18 age and gender similar neurotypical controls, were tested for plasma zinc and copper using inductively-coupled plasma-mass spectrometry. Results Autistic and PDD-NOS individuals had significantly elevated plasma levels of copper. None of the groups (autism, Asperger’s or PDD-NOS) had significantly lower plasma zinc concentrations. Post zinc and B-6 therapy, individuals with autism and PDD-NOS had significantly lower levels of copper, but individuals with Asperger’s did not have significantly lower copper. Individuals with autism, PDD-NOS and Asperger’s all had significantly higher zinc levels. Severity of symptoms decreased in autistic individuals following zinc and B-6 therapy with respect to awareness, receptive language, focus and attention, hyperactivity, tip toeing, eye contact, sound sensitivity, tactile sensitivity and seizures. None of the measured symptoms worsened after therapy. None of the symptoms in the Asperger’s patients improved after therapy. Discussion These results suggest an association between copper and zinc plasma levels and individuals with autism, PDD-NOS and Asperger’s Syndrome. The data also indicates that copper levels normalize (decrease to levels of controls) in individuals with autism and PDD-NOS, but not in individuals with Asperger’s. These same Asperger’s patients do not improve with respect to symptoms after therapy, whereas many symptoms improved in the autism group. This may indicate an association between copper levels and symptom severity. PMID:22174567

  18. Hepatorenal syndrome: resolution of ascites by continuous renal replacement therapy in an alcoholic coinfected with hepatitis B, C, and human immunodeficiency viruses.

    PubMed

    Hansard, Paul C; Manning, Ricardo A; Haseeb, M A; Salwen, Martin J

    2006-01-01

    A 39-yr-old male with hepatorenal syndrome type 1 and refractory ascites was treated with continuous renal replacement therapy (CRRT) resulting in clinical improvement. He was positive for antibodies to hepatitis B, C, and human immunodeficiency viruses, and had a history of chronic alcohol and iv drug abuse. The patient had 4 hospital admissions during a 12-wk period. He first presented with advanced liver disease including pedal edema and a serum ammonia level of 56 micromol/L (reference range: 11 - 35 micromol/L). In subsequent admissions, he had asterixis, nausea, vomiting, jaundice, and worsening pedal edema. On his 4th admission, there was lethargy, tense ascites, decreased urinary output, bilateral edema of the lower extremities and scrotum, serum creatinine of 6.2 mg/dl (reference range: 0.6 - 1.5 mg/dl), and weight gain of 16 kg during the prior 8 wk. During the first 3 hospitalizations, he was treated with lactulose with slight improvement. On the 4th admission, he was started on low-dose dopamine (3 microg/kg/min) and 25% salt-poor albumin without clinical improvement. A pulmonary artery catheter was placed and hemofiltration by CRRT was performed for 5 days, with removal of 26.7 L of fluid and a net reduction of 11 kg of body weight. Serum creatinine decreased to 4.2 mg/dl during CRRT and was 2.2 mg/dl at hospital discharge 2 weeks later. His PaO(2) improved from 66 to 78 mmHg and his systemic vascular resistance increased from 571 to 799 dyne.sec/cm(5). CRRT was effective in relieving severe fluid retention and producing marked clinical improvement. We suggest that CRRT should be considered for the treatment of refractory ascites including that caused by hepatorenal syndrome. PMID:16501243

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

    PubMed Central

    2014-01-01

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

  20. Long-term testosterone therapy in hypogonadal men ameliorates elements of the metabolic syndrome: an observational, long-term registry study

    PubMed Central

    Traish, A M; Haider, A; Doros, G; Saad, F

    2014-01-01

    Aim The goal of this study was to determine if long-term testosterone (T) therapy in men with hypogonadism, henceforth referred to as testosterone deficiency (TD), ameliorates or improves metabolic syndrome (MetS) components. Methods We performed a cumulative registry study of 255 men, aged between 33 and 69 years (mean 58.02 ± 6.30) with subnormal plasma total T levels (mean: 9.93 ± 1.38; range: 5.89–12.13 nmol/l) as well as at least mild symptoms of TD assessed by the Aging Males' symptoms scale. All men received treatment with parenteral T undecanoate 1000 mg (Nebido®, Bayer Pharma, Berlin, Germany), administered at baseline and 6 weeks and thereafter every 12 weeks for up to 60 months. Lipids, glucose, liver enzymes and haemoglobin A1c analyses were carried out in a commercial laboratory. Anthropometric measurements were also made throughout the study period. Results Testosterone therapy restored physiological T levels and resulted in reductions in total cholesterol (TC) [7.29 ± 1.03 to 4.87 ± 0.29 mmol/l (281.58 ± 39.8 to 188.12 ± 11.31 mg/dl)], low-density lipoprotein cholesterol [4.24 ± 1.07 to 2.84 ± 0.92 mmol/l (163.79 ± 41.44 to 109.84 ± 35.41 mg/dl)], triglycerides [3.14 ± 0.58 to 2.16 ± 0.13 mmol/l (276.16 ± 51.32 to 189.78 ± 11.33 mg/dl)] and increased high-density lipoprotein levels [1.45 ± 0.46 to 1.52 ± 0.45 mmol/l (56.17 ± 17.79 to 58.85 ± 17.51 mg/dl)] (p < 0.0001 for all). There were marked reductions in systolic and diastolic blood pressure, blood glucose, haemoglobin A1c, C-reactive protein (6.29 ± 7.96 to 1.03 ± 1.87 U/l), alanine aminotransferase and aspartate aminotransferase (p < 0.0001 for all). Conclusions Long-term T therapy, at physiological levels, ameliorates MetS components. These findings strongly suggest that T therapy in hypogonadal men may prove useful in reducing the risk of cardiometabolic diseases. PMID:24127736

  1. A trial of Scrambler therapy in the treatment of cancer pain syndromes and chronic chemotherapy-induced peripheral neuropathy.

    PubMed

    Coyne, Patrick J; Wan, Wen; Dodson, Patricia; Swainey, Craig; Smith, Thomas J

    2013-12-01

    Neuropathic pain is common among cancer patients and often difficult to treat. This study used Scrambler therapy, a patient-specific electrocutaneous nerve stimulation device, to treat cancer patients with pain. Patients received Scrambler therapy for 10 sessions (one daily) over a two-week period. The primary outcome was changed in pain numerical rating scale (NRS) at one month; secondary outcomes were changes in the Brief Pain Inventory and European Organization for Treatment and Cancer QLC-CIPN-20(EORTC CIPN-20), over time. Thirty-nine patients, mean age 56.5 yr, 16 men and 23 women, were treated over an 18-month period for an average of 9.3 days each. The "now" pain scores reduced from 6.6 before treatment to 4.5 at 14 days, 4.6, 4.8, and 4.6 at 1, 2, and 3 months, respectively (p < 0.001). Clinically important and statistically significant improvements were seen in average, least, and worst pain; BPI interference with life scores, and motor and sensory scales on the EORTC CIPN-20. No adverse effects were observed. In this single arm trial, Scrambler therapy appeared to relieve cancer-associated chronic neuropathic pain both acutely and chronically, and provided sustained improvements in many indicators of quality of life. PMID:24143893

  2. An Expanded Trial of Scrambler Therapy in the Treatment of Cancer Pain Syndromes And Chronic Chemotherapy-Induced Peripheral Neuropathy

    PubMed Central

    Coyne, Patrick J; Wan, Wen; Dodson, Patricia A; Swainey, Craig; Smith, Thomas J

    2015-01-01

    Background Neuropathic pain is common among cancer patients and often difficult to treat. This study used Scrambler Therapy, a patient specific electrocutaneous nerve stimulation device, to treat cancer patient with pain. Methods Patients received Scrambler Therapy for ten sessions (one daily) over a two- week period. The primary outcome was change in pain numeric rating scale (NRS) at 1 month; secondary outcomes were changes in the Brief Pain Inventory and European Organization for Treatment and Cancer QLC-CIPN-20 over time. Results 39 patients, mean age 56.5, 16 men and 23 women, were treated over an 18 month period for an average of 9.3 days each. The “now” pain scores reduced from 6.6 before treatment to 4.5 at 14 days, 4.6, 4.8 and 4.6 at 1, 2 and 3 months. (p<0.001) Clinically important and statistically significant improvements were seen in average, least, and worst pain; BPI interference with life scores, and motor and sensory scales on the EORTC CIPN-20. No adverse effects were observed. Conclusions In this single arm trial, Scrambler therapy appeared to relieve cancer associated chronic neuropathic pain both acutely and chronically, and provided sustained improvements in many indicators of quality of life. PMID:24143893

  3. Defining prior therapy in myelodysplastic syndromes and criteria for relapsed and refractory disease: implications for clinical trial design and enrollment

    PubMed Central

    Steensma, David P.

    2009-01-01

    The recent approval of 3 drugs for the treatment of myelodysplastic syndromes (MDSs) has resulted in a revolution in therapeutic options that was absent a decade ago. At the same time, the changing MDS environment is raising new challenges in clinical trial design and defining new indications for MDS drugs. Many current trials still rely on IPSS-based enrollment criteria, despite the well-recognized limitations of the IPSS. Clinical trialists designing studies struggle with several important trial design challenges, including which patients constitute the “previously treated” and “relapsed/refractory” MDS populations, and how specifically to define disease “progression.” This article considers some of these issues as they relate to study design, including how to identify certain MDS populations and define disease progression. PMID:19605847

  4. Anticomplement C5 therapy with eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome.

    PubMed

    Wong, Edwin K S; Kavanagh, David

    2015-02-01

    The complement inhibitor eculizumab is a humanized monoclonal antibody against C5. It was developed to specifically target cleavage of C5 thus preventing release of C5a and activation of the terminal pathway. Paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS) are 2 diseases with distinctly different underlying molecular mechanisms. In PNH, progeny of hematopoietic stem cells that harbor somatic mutations lead to a population of peripheral blood cells that are deficient in complement regulators resulting in hemolysis and thrombosis. In aHUS, germline mutations in complement proteins or their regulators fail to protect the glomerular endothelium from complement activation resulting in thrombotic microangiopathy and renal failure. Critical to the development of either disease is activation of the terminal complement pathway. Understanding this step has led to the study of eculizumab as a treatment for these diseases. In clinical trials, eculizumab is proven to be effective and safe in PNH and aHUS. PMID:25468487

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

    PubMed Central

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

    2014-01-01

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

  6. Phase I-II Clinical Trial of Oxaliplatin, Fludarabine, Cytarabine, and Rituximab Therapy in Aggressive, Relapsed/Refractory Chronic Lymphocytic Leukemia or Richter’s Syndrome

    PubMed Central

    Tsimberidou, Apostolia M.; Wierda, William G.; Wen, Sijin; Plunkett, William; O’Brien, Susan; Kipps, Thomas J.; Jones, Jeffrey A.; Badoux, Xavier; Kantarjian, Hagop; Keating, Michael J.

    2014-01-01

    Introduction To improve outcomes of patients with Richter's syndrome (RS) and relapsed/refractory chronic lymphocytic leukemia (CLL), we modified the oxaliplatin and cytarabine doses of the oxaliplatin, fludarabine, cytarabine, and rituximab (OFAR1) regimen for this phase I-II study (OFAR2). Patients and Methods OFAR2 consisted of oxaliplatin at 30 mg/m2 on days (D) 1–4, fludarabine at 30 mg/m2, cytarabine at 0.5 g/m2, rituximab at 375 mg/m2 (D3), and pelfigrastim at 6 mg (D6). Fludarabine and cytarabine were given on D2–3 (cohort 1), D2–4 (cohort 2), or D2–5 (cohort 3) every 4 weeks. Phase II followed the "3+3" design of phase I. Results The 102 patients (CLL, 67; RS, 35) treated had heavily pretreated, high-risk disease. Twelve patients were treated in phase I; cohort 2 was the phase II recommended dose. The most common toxicities were hematologic. Response rates (phase II) were 38.7% for RS (CR, 6.5%) and 50.8% for relapsed/refractory CLL (CR, 4.6%). The median survival durations were 6.6 (RS) and 20.6 (CLL) months. Among 9 patients who underwent allogeneic stem cell transplantation (SCT) as post-remission therapy, none has died (median follow-up, 15.9 months). Conclusion OFAR2 had significant antileukemic activity in RS and relapsed/refractory CLL. Patients undergoing SCT as post-remission therapy had favorable outcomes PMID:23810245

  7. West syndrome associated with mosaic Down syndrome.

    PubMed

    Kajimoto, Madoka; Ichiyama, Takashi; Akashi, Akiko; Suenaga, Naoko; Matsufuji, Hironori; Furukawa, Susumu

    2007-08-01

    We report a girl with West syndrome associated with mosaic Down syndrome. She had repetitive tonic spasms at 6 months and an electroencephalography (EEG) showed hypsarrhythmia. Her facial appearance was normal and she had no minor anomalies. Her karyotype was mosaic(46,XX/47,XX,+21). Adrenocorticotropin (ACTH) therapy was effective, and her developmental quotient was 76 at 17 months. This report re-emphasize that chromosomal analysis is recommended for epileptic patients with infantile onset when the cause is unclear. PMID:17307326

  8. Long-Term Therapy of a Patient with Summerskill-Walshe-Tygstrup Syndrome by Applying Prometheus® Liver Dialysis: A Case Report

    PubMed Central

    Walensi, Mikolaj; Canbay, Ali; Witzke, Oliver; Gerken, Guido; Kahraman, Alisan

    2012-01-01

    Summerskill-Walshe-Tygstrup syndrome is a rare benign chronic liver disease characterized by recurring cholestasis with jaundice and severe pruritus. Due to insufficient conservative treatment, liver dialysis by Prometheus® was applied to a 45-year-old female patient with resistant pruritus. Initially, other possible liver diseases were excluded and the patient was treated symptomatically since the diagnosis of Summerskill-Walshe-Tygstrup was stated in 1998. As conservative and endoscopic methods progressively failed to relieve the patient's suffering, Prometheus® liver dialysis was performed regularly since 2006 at 3-month intervals and successfully led to a decrease in the patient's symptoms. Cholestatic liver enzymes and also serum bile acids could be lowered significantly from an average of 22.5 ± 2.7 to 7.3 ± 1.7 µmol/l. Consequently, Prometheus® liver dialysis may be a beneficial option for patients with benign recurrent intrahepatic cholestasis suffering from therapy-resistant symptoms and may be used as well as other extracorporeal liver support devices which have already been reported to improve cholestatic pruritus. PMID:22949896

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

    PubMed

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

    2012-01-01

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

  10. 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

  11. Sotos syndrome

    PubMed Central

    Baujat, Genevičve; 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

  12. 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

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

    PubMed Central

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

    2012-01-01

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

  14. Metabolic Syndrome

    MedlinePLUS

    ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ... 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is a collection of problems that ...

  15. Beals Syndrome

    MedlinePLUS

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  16. 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

  17. 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.

  18. Discontinuation of hypomethylating agent therapy in patients with myelodysplastic syndromes or acute myelogenous leukemia in complete remission or partial response: Retrospective analysis of survival after long-term follow-up.

    PubMed

    Cabrero, Monica; Jabbour, Elias; Ravandi, Farhad; Bohannan, Zach; Pierce, Sherry; Kantarjian, Hagop M; Garcia-Manero, Guillermo

    2015-05-01

    Hypomethylating agents (HMA), such as 5-azacitidine or decitabine, are currently used to treat patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) until treatment failure. However, the outcomes for patients who discontinue therapy after achieving partial response (PR) or complete remission (CR) but before treatment failure have not been reported. We present a series of 16 patients with higher-risk MDS (n=5; 31%) or AML (n=11; 69%) who achieved PR (n=1) or CR (n=15) and stopped HMA therapy while in response in the context of clinical trials. They received a median of 12 courses (range 1-24) and achieved response after a median of 1 course of therapy (1-4). Loss of response after discontinuation of therapy was rapid, with a median progression-free survival of 4 months (95% CI: 2-6). Median overall survival (OS) from the time of therapy discontinuation was 15 months (95% CI: 6-24). Patients who received 12 cycles of therapy or more had significantly better OS (median: 20 months [95% CI: 12-27]) than those who received fewer than 12 cycles (median: 4 months [95% CI: 1-8]) (p=0.043). Poor-risk cytogenetics were also associated with lower 1-year OS (33% versus 69%; p=0.046). According to these results and considering the poor prognosis after HMA failure, HMA interruption should be avoided once a sustained response has been achieved. PMID:25828745

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  1. Sjögren syndrome

    MedlinePLUS

    Xerostomia-Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... in children. Primary Sjögren syndrome is defined as dry eyes and dry mouth without another autoimmune disorder. Secondary ...

  2. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

    Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. Muscle Nerve 52: 5-12, 2015. PMID:25736532

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

    PubMed Central

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  5. [Dietary therapy of epilepsy].

    PubMed

    Imai, Katsumi; Ishihara, Eiko; Ikeda, Hiroko

    2014-05-01

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

  6. Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes

    MedlinePLUS

    ... fix or replace the underlying genetic defects by gene therapy. MDA’s Search for Treatments and ... and your family deal with myasthenia gravis or myasthenic syndromes. The staff at your local MDA office is ...

  7. LA COOPERATION D'ONCOGENES DANS LA TRANSFORMATION CELLULAIRE Samarut J. 1.(J!J(Jrll{)in! (Ir liinloyicMol(!clJlain! el C(!Julairc, [cole Normale 5lJpl!ricLJrc

    E-print Network

    Paris-Sud XI, Université de

    LA COOPERATION D'ONCOGENES DANS LA TRANSFORMATION CELLULAIRE Samarut J. 1.(J!J(JrÍll{)in! (Ir'HEPATOCYTES DE RAT PAR TRANSFECTION IN VITRO OU IN VIVO A L'AIDE DE PLASMIDES ONCOGENES (Ha-ras ou BPV) VEHICULES l'AR DES LIPOSOMES : EXPRESSION D'UN ONCOGENE ET DE PHENOTYPES METABOLIQUES DU FOIE. Fischbach M

  8. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    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. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  9. The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome.

    PubMed

    Cotterill, A M; McKenna, W J; Brady, A F; Sharland, M; Elsawi, M; Yamada, M; Camacho-Hübner, C; Kelnar, C J; Dunger, D B; Patton, M A; Savage, M O

    1996-06-01

    Noonan's syndrome (NS) is associated with short stature and cardiac defects. Small studies reported linear growth increases with recombinant human GH (rhGH) therapy, but also raised concerns related to the anabolic effects of rhGH and the possible progression of ventricular hypertrophy. We report a multicenter study examining the efficacy and safety of rhGH (4 IU/m2.day, sc) in children with NS. Entry criteria were: NS confirmed by single observer, height SD score less than -2(UK Height Standards 1990), prepubertal, and normal maximal left ventricular (LV) wall thickness less than 1 cm by 2-dimensional echocardiography. Thirty subjects were recruited (19 males and 11 females), aged 8.9 +/- 0.5 yr (range, 4.8-13.7 yr). Growth was monitored for 12 months before and at 3-month intervals during therapy. Measurements of maximal LV wall thickness were taken at 0 and 12 months. Serum insulin-like growth factor I(IGF-I), IGF-II, and IGF-binding protein-3 levels were determined at 0, 3, 6, 9, and 12 months. Ten subjects with NS (4 females and 6 males), aged 8.8 +/- 0.7 yr (range, 6.3-11.8 yr), were monitored over the same period as a comparison group. In the treatment group, 27 subjects completed 12 months of therapy. Height SD score increased from -3.01 +/- 0.10 to -2.36 +/- 0.10 (P < 0.0001) after 12 months; height velocity (HV) increased from 4.9 +/- 0.2 to 8.9 +/- 0.3 cm/yr at 6 months and 8.1 +/- 0.4 cm/yr (P < 0.0001) from 6-12 months. The HV SD score increased from -0.7 +/- 0.15 to +2.42 +/- 0.32 over 12 months (P < 0.0001). The increase in HV was more than 2 cm/yr in 24 patients. IGF-I increased from 121 +/- 13 to 240 +/- 22 micrograms/L at 12 months (P < 0.0001), and IGF-binding protein-3 increased from 2.65 +/- 0.20 to 4.01 +/- 0.42 mg/L at 12 months (P = 0.0009). In the comparison group, there was no change in height SD score (-2.03 +/- 0.19), HV (4.4 +/- 0.24 CM/yr), or HV SD score (- 1.08 +/- 0.21). There was no increase in mean maximal LV wall thickness during the study in either the treatment group (12 month values were 0.63 +/- 0.02 cm at the mitral valve level and 0.66 +/- 0.02 cm at the papillary muscle level) or in the comparison group (0.63 +/- 0.04 cm at the mitral valve level and 0.61 +/- 0.03 cm at the papillary muscle level). In conclusion, rhGH was effective in 24 of the treated patients; these subjects achieved a significant increase in height SD score and HV over 1 yr. Abnormal anabolic effects of rhGH on myocardial thickness were not confirmed, and no patient developed features of hypertrophic cardiomyopathy. PMID:8964866

  10. Tourette Syndrome

    MedlinePLUS

    What Is Tourette Syndrome? Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are ... few months or a year. Continue Who Gets Tourette Syndrome? Tourette syndrome can affect people of all ...

  11. Tourette Syndrome

    MedlinePLUS

    NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

  12. Fanconi syndrome

    MedlinePLUS

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome ...

  13. [Schizophrenia or Asperger syndrome?].

    PubMed

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

    2008-09-01

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

  14. West syndrome in a patient with schinzel-giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. PMID:25028416

  15. Family-focused cognitive behaviour therapy versus psycho-education for adolescents with chronic fatigue syndrome: long-term follow-up of an RCT.

    PubMed

    Lloyd, Samantha; Chalder, Trudie; Rimes, Katharine A

    2012-11-01

    The aim of this study was to investigate the long term efficacy of family-focused cognitive behaviour therapy (CBT) compared with psycho-education in improving school attendance and other secondary outcomes in adolescents with chronic fatigue syndrome (CFS). A 24 month follow-up of a randomised controlled trial was carried out. Participants received either 13 one-hour sessions of family-focused CBT or four one-hour sessions of psycho-education. Forty-four participants took part in the follow-up study. The proportion of participants reporting at least 70% school attendance (the primary outcome) at 24 months was 90% in CBT group and 84% in psycho-education group; the difference between the groups was not statistically significant (OR = 1.29, p = 0.80). The proportion of adolescents who had recovered in the family-focused CBT group was 79% compared with 64% in the psycho-education, according to a definition including fatigue and school attendance. This difference was not statistically significant (Fisher's exact test, p = 0.34). Family-focused CBT was associated with significantly better emotional and behavioural adjustment at 24 month follow-up compared to psycho-education, as reported by both adolescents (F = 6.49, p = 0.02) and parents (F = 4.52, P = 0.04). Impairment significantly decreased in both groups between six and 24 month follow-ups, with no significant group difference in improvement over this period. Gains previously observed for other secondary outcomes at six month follow-up were maintained at 24 month follow-up with no further significant improvement or group differences in improvement. In conclusion, gains achieved by adolescents with CFS who had undertaken family-focused CBT and psycho-education generally continued or were maintained at two-year follow-up. The exception was that family-focused CBT was associated with maintained improvements in emotional and behavioural difficulties whereas psycho-education was associated with deterioration in these outcomes between six and 24-month follow-up. PMID:22985998

  16. Ogilvie's Syndrome following Cardioversion for Atrial Fibrillation.

    PubMed

    Al-Halawani, Moh'd; Savaille, Juanito; Thawabi, Mohammad; Abdeen, Yazan; Miller, Richard A; Fedida, Andre A

    2014-01-01

    Acute colonic pseudoobstruction, also known as Ogilvie's syndrome, is characterized by distension of the colon in the absence of a mechanical obstruction as evident by abdominal radiography. This syndrome is usually treated conservatively; however, medical or surgical therapies can be employed in refractory cases. Ogilvie's syndrome has been reported following cardiac events, such as myocardial infarction, heart failure, and cardiac bypass surgeries. We report the first case of Ogilvie's syndrome following synchronized electric cardioversion for atrial fibrillation. PMID:25214851

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

    PubMed Central

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

    2014-01-01

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

  18. [New aspects of hormone replacement therapy].

    PubMed

    Fait, Tomáš

    2014-11-01

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

  19. What's New in Myelodysplastic Syndrome Research and Treatment?

    MedlinePLUS

    ... Next Topic Additional resources for myelodysplastic syndromes What`s new in myelodysplastic syndrome research and treatment? Genetics and ... research unfolds, it may be used to design new drugs or eventually in developing gene therapy. This ...

  20. Education (of Children Affected by Fragile X Syndrome)

    MedlinePLUS

    ... Years of Age Educational Resources Home Schooling and Fragile X Syndrome Lesson Planning Guide Therapy Sensory Diet Clinics Reasons ... Print Education Children whose development is affected by fragile X syndrome are eligible for special education services. Part C ...

  1. Hepatopulmonary Syndrome.

    PubMed

    Lv, Yong; Fan, Daiming

    2015-07-01

    Hepatopulmonary syndrome (HPS) is a pulmonary complication observed in patients with chronic liver disease and/or portal hypertension, attributable to an intrapulmonary vascular dilatation that may induce severe hypoxemia. Microvascular dilation and angiogenesis in the lung have been identified as pathologic features that drive gas exchange abnormalities in experimental HPS. Pulse oximetry is a useful screening test for HPS, which can guide subsequent use of arterial blood gases. Contrast-enhanced echocardiography, perfusion lung scanning, and pulmonary arteriography are three currently used diagnostic imaging modalities that identify the presence of intrapulmonary vascular abnormalities. The presence of HPS increases mortality and impairs quality of life, but is reversible with liver transplantation. No medical therapy is established as effective for HPS. At the present time, liver transplantation is the only available treatment for HPS. PMID:25732713

  2. Tourette Syndrome

    MedlinePLUS

    ... first described the condition in 1885. What Is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ... is still being studied. Back Continue Dealing With Tourette Syndrome Many people don't understand what TS ...

  3. Dravet Syndrome

    MedlinePLUS

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

  4. Down Syndrome

    MedlinePLUS

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

  5. Usher Syndrome

    MedlinePLUS

    ... for Usher syndrome. The best treatment involves early identification so that educational programs can begin as soon ... syndrome. Other areas of study include the early identification of children with Usher syndrome, treatment strategies such ...

  6. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  7. Metabolic syndrome

    MedlinePLUS

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

  8. Verifying Hellström-Lindberg score as predictive tool for response to erythropoietin therapy according to the "International Working Group" criteria, in anemic patients affected by myelodysplastic syndrome: a monocentric experience.

    PubMed

    Molteni, Alfredo; Riva, Marta; Greco, Rosa; Nichelatti, Michele; Ravano, Emanuele; Marbello, Laura; Nosari, Annamaria; Morra, Enrica

    2013-04-01

    The Hellström-Lindberg score (HLS) (1997) is designed to predict erythroid response to erythropoietin treatment in myelodysplastic patients. In order to test the validity of this scoring system, 58 patients affected by myelodysplastic syndrome, treated with a "standard dose" approach between 2001 and 2010, were analyzed. The response to erythropoietin treatment was evaluated in accordance with the "international working group" (IWG) criteria. Among the patients only two were scored "poor," 12 "intermediate," and 44 "good" (15 of whom were scored "3" and 29 "4"). Although the system was verified as a predictive tool for response to erythropoietin therapy, we noted that of patients scored as "good," those with a numerical score of "4" responded more frequently than did those scored "3", as evaluated under both the 2006- and 2000-IWG ("major response") criteria. The modest response rate in patients scoring "3" did not show a difference in response rate in comparison to the "intermediate" group. The present data suggest that only patients scoring "4" on the scale may show an adequate response to the standard dose erythropoietin therapy, while frontline high-dose therapy should be offered to other patients. A further analysis considering endogenous erythropoietin as a possible determinant of response revealed the optimal cut-off value of 80 mIU/mL, instead of the value of 100 mIU/mL utilized by the HLS. PMID:23508542

  9. Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

    PubMed Central

    Foster, Erina N.; Nguyen, Khanh K.; Sheikh, Rafiq A.; Prindiville, Thomas P.

    2005-01-01

    The association of Crohn's disease (CD) and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions. PMID:16050146

  10. Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001

    Microsoft Academic Search

    M B Ranke; C J Partsch; A Lindberg; M Bettendorf; B P Hauffa; H P Schwarz; O Mehls; S Sander; N Stahnke; H Steinkamp; W Sippell

    2002-01-01

    Objectives: We aimed to evaluate the factors influencing true adult height (HT) after long-term (from 1987 to 2000) GH treatment in Ullrich - Turner syndrome (UTS) based on modalities conceived in the 1980s. Design: Out of 347 near-adult (. 16 years) patients from 96 German centres, whose longitudinal growth was documented within KIGS (Pharmacia International Growth Database), 188 (45, X

  11. Blood Pressure in Children with Minimal Change Nephrotic Syndrome during Oedema and after Steroid Therapy: The Influence of Familial Essential Hypertension

    Microsoft Academic Search

    Laure Monthe Kontchou; Giulia Liccioli; Ivana Pela

    2009-01-01

    Aims: To verify the variations of blood pressure in children with minimal change nephrotic syndrome and to correlate the blood pressure with familial history of essential hypertension. Methods: We measured blood pressure in 49 prepubertal nephrotic children, 17 females and 32 males, in the first week of oedema, and after 4 weeks of ISKDC (International Study of Kidney Disease in

  12. [Pulmonary-renal syndrome].

    PubMed

    Risso, Jorge A; Mazzocchi, Octavio; De All, Jorge; Gnocchi, César A

    2009-01-01

    The pulmonary-renal syndrome is defined as a combination of diffuse alveolar hemorrhage and glomerulonephritis. The coexistence of these two clinical conditions is due to diseases with different pathogenic mechanisms. Primary systemic vasculitis and Goodpasture syndrome are the most frequent etiologies. Systemic lupus erythematosus, connective tissue diseases, negative anti neutrophil cytoplasmic antibody vasculitis and those secondary to drugs are far less common causes. An early diagnosis based on clinical, radiologic, laboratory and histologic criteria enables early treatment, thus diminishing its high morbidity-mortality rate. Therapy is based on high doses of corticosteroids, immunosuppressants, tumor necrosis factor inhibitors and plasmapheresis. PMID:20053612

  13. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

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

  14. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome\\/acute myeloid leukemia

    Microsoft Academic Search

    Hironori Harada; Yuka Harada; Hideo Tanaka; Akiro Kimura; Toshiya Inaba

    2003-01-01

    A-bomb survivors, MDS patients exposed relatively low-dose radiation and devel- oped the disease after a long latency period. AML1 mutations also were found in 5 (38%) of 13 therapy-related AML\\/MDS patients who were treated with alkylating agents with or without local radiation therapy. In contrast, frequency of AML1 mutation in sporadic MDS patients was 2.7% (2 of 74). Among AML1

  15. Metabolic Syndrome

    MedlinePLUS

    ... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...

  16. Lemierre Syndrome: A Case of Postanginal Sepsis

    PubMed Central

    Seo, Young Tak; Kim, Ji Hoon; Ha, Byung Wook; Choi, Hyo Sun; Kim, Yong Tai; Ham, Young Hwan

    2007-01-01

    Lemierre syndrome is a rare disease that's characterized by internal jugular vein thrombosis and septic emboli. These symptoms typically develop after acute oropharyngeal infection by Fusobacterium necrophorum1). Although this syndrome is less frequently seen in modern times due to the availability of antibiotics, physicians must be aware of the syndrome in order to initiate prompt antibiotics therapy, including coverage of the anerobic organisms. We discuss here the case of an 18-year-old female with Lemierre syndrome and we review the relevant literature on this syndrome. PMID:17939341

  17. Sono-Electro-Magnetic Therapy for Treating Chronic Pelvic Pain Syndrome in Men: A Randomized, Placebo-Controlled, Double-Blind Trial

    PubMed Central

    Kessler, Thomas M.; Mordasini, Livio; Weisstanner, Christian; Jüni, Peter; da Costa, Bruno R.; Wiest, Roland; Thalmann, George N.

    2014-01-01

    Objective To assess the efficacy and safety of sono-electro-magnetic therapy compared to placebo in men with refractory CPPS. Patients and Methods In a randomized, placebo-controlled, double-blind single center trial, we assessed the effect of sono-electro-magnetic therapy in men with treatment refractory CPPS. Sixty male patients were randomly assigned to treatment with either sono-electro-magnetic (n?=?30) or placebo therapy (n?=?30) for 12 weeks. The primary outcome was a change in the National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) from baseline to 12 weeks. Results The 12-week difference between sono-electro-magnetic and placebo therapy in changes of the NIH-CPSI total score was ?3.1 points (95% CI ?6.8 to 0.6, p?=?0.11). In secondary comparisons of NIH-CPSI sub-scores, we found differences between groups most pronounced for the quality-of-life sub-score (difference at 12 weeks ?1.6, 95% CI ?2.8 to ?0.4, p?=?0.015). In stratified analyses, the benefit of sono-electro-magnetic therapy appeared more pronounced among patients who had a symptom duration of 12 months or less (difference in NIH-CPSI total score ?8.3, 95% CI ?14.5 to 2.6) than in patients with a longer symptom duration (?0.8, 95% CI ?4.6 to 3.1; p for interaction?=?0.023). Conclusions Sono-electro-magnetic therapy did not result in a significant improvement of symptoms in the overall cohort of treatment refractory CPPS patients compared to placebo treatment. Subgroup analysis indicates, however, that patients with a symptom-duration of 12 months or less may benefit from sono-electro-magnetic therapy, warranting larger randomized controlled trials in this subpopulation. Trial Registration ClinicalTrials.gov NCT00688506 PMID:25546177

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

    ClinicalTrials.gov

    2013-07-03

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

  19. Mastoid abnormalities in down syndrome

    Microsoft Academic Search

    R. B. J. Glass; D. K. Yousefzadeh; N. J. Roizen

    1989-01-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected\\u000a children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality\\u000a may lead to appropriate and timely therapy, thereby preserving the child’s hearing or compensating for hearing loss; factors\\u000a which are important

  20. Bronchoalveolar lavage with a diluted surfactant suspension prior to surfactant instillation improves the effectiveness of surfactant therapy in experimental acute respiratory distress syndrome (ARDS)

    Microsoft Academic Search

    D. Gommers; E. P. Eijking; K. L. So; A. van't Veen; B. Lachmann

    1998-01-01

    Objective: To assess whether bronchoalveolar lavage (BAL) with a diluted surfactant suspension prior to surfactant instillation prevents\\u000a the only transient improvement in lung function as reported after surfactant instillation in severe acute respiratory distress\\u000a syndrome (ARDS). Design: Randomized, prospective, experimental study. Setting: Laboratory and animal facility of a large university. Materials: Adult male Sprague-Dawley rats (280 ± 30 g). Interventions:

  1. Extreme efficacy of intravenous immunoglobulin therapy for severe burning pain in a patient with small fiber neuropathy associated with primary Sjögren’s syndrome

    Microsoft Academic Search

    Daisuke Wakasugi; Takashi Kato; Takahisa Gono; Eiichi Ito; Hiroyuki Nodera; Yasushi Kawaguchi; Hisashi Yamanaka; Masako Hara

    2009-01-01

    Neurological involvement occurs in approximately 20% of patients with primary Sjögren’s syndrome. Although neurological symptoms\\u000a can affect the peripheral nervous system and the central nervous system, the most frequent symptom is polyneuropathy. Small\\u000a fiber neuropathy (SFN) is a form of painful peripheral polyneuropathy that is common in patients with diabetic neuropathy,\\u000a but may also occur in toxic, infectious, or immune-mediated

  2. Determinants of Interleukin6 and C-Reactive Protein Vary in Polycystic Ovary Syndrome, as Do Effects of Short and Long-Term Metformin Therapy

    Microsoft Academic Search

    Tasoula Tsilchorozidou; Vidya Mohamed-Ali; Gerard S. Conway

    2009-01-01

    Objective, Design and Methods: Circulating levels of interleukin-6 (IL-6) and C-reactive protein (CRP) were determined in 59 women with polycystic ovary syndrome, of whom 37 were retested after receiving metformin for 6 weeks and 6 months, to ascertain the response of these inflammatory markers to weight loss and insulin sensitization. Results: IL-6 levels correlated significantly with body mass index (BMI;

  3. Metformin Therapy Increases Insulin-Stimulated Release of D-Chiro-Inositol-Containing Inositolphosphoglycan Mediator in Women with Polycystic Ovary Syndrome

    Microsoft Academic Search

    JEAN-PATRICE BAILLARGEON; MARIA J. IUORNO; DANIELA J. JAKUBOWICZ; TEIMURAZ APRIDONIDZE; JOHN E. NESTLER

    Some actions of insulin are mediated by putative inositol- phosphoglycan mediators, and a deficiency in D-chiro-inosi- tol-containing inositolphosphoglycan (DCI-IPG) may contrib- ute to insulin resistance in women with polycystic ovary syndrome (PCOS). Furthermore, similar effects of DCI and metformin, an insulin-sensitizing drug, have been demon- strated in PCOS women. To determine whether metformin improves insulin actions by increasing biologically active

  4. Isaacs' syndrome in pregnancy.

    PubMed

    Lide, Brianna; Singh, Jasbir; Haeri, Sina

    2014-01-01

    Isaacs' syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyperexcitability. Symptoms commonly include myokymia (muscle twitching at rest), pseudomyotonia (delayed muscle relaxation), muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange. To date only two cases of Isaacs' syndrome in pregnancy have been reported. We present a case of maternal Isaacs' along with a review of the literature. There are few reports of Isaacs' syndrome in pregnancy, but all are associated with favourable outcomes. Given the autosomal dominant inheritance pattern, genetic counselling of the gravida is recommended. Anticonvulsant may have to be used in pregnancy, and given the potential teratogenicity with several of these agents; preference should be given to newer drugs such as lamotrigine. PMID:25301428

  5. Lemierre's syndrome (necrobacillosis)

    PubMed Central

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

    1999-01-01

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

  6. ADCK4 “reenergizes” nephrotic syndrome

    PubMed Central

    Malaga-Dieguez, Laura; Susztak, Katalin

    2013-01-01

    Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower coenzyme Q10 levels, and coenzyme Q10 supplementation ameliorated renal disease in a patient with this particular mutation, suggesting a potential therapy for patients with steroid-resistant nephrotic syndrome with ADCK4 mutations. PMID:24270414

  7. Landau–Kleffner syndrome responsive to levetiracetam

    Microsoft Academic Search

    Eric H. Kossoff; Dana Boatman; John M. Freeman

    2003-01-01

    A 5-year-old girl with Landau–Kleffner syndrome is discussed. The child began having seizures at age 4 associated with language deterioration despite anticonvulsant therapy. With levetiracetam monotherapy to a dose of 60mg\\/kg\\/day and discontinuation of carbamazepine and valproic acid, her language has improved and seizures are controlled. Levetiracetam should be considered as therapy for Landau–Kleffner syndrome.

  8. Klinefelter syndrome: Case report

    PubMed Central

    CAPASSO, F.; PANETTA, F.; IERARDO, G.; PARISELLA, V.; POLIMENI, A.

    2010-01-01

    SUMMARY Objectives. The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Methodos. Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Result. Interceptive therapy aims to eliminate the functional interference that occurs during growth. Conclusion. For this reason it’s a must for the dentist to carefully monitor the oral health of the small patient immediately. PMID:23285366

  9. Tourette’s Syndrome

    Microsoft Academic Search

    Kirsten R. Müller-Vahl

    \\u000a Tourette’s syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour\\u000a disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that\\u000a are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports\\u000a and preliminary controlled studies it is

  10. Transient Fanconi syndrome in Quarter horses.

    PubMed

    Ohmes, Cameon M; Davis, Elizabeth G; Beard, Laurie A; Vander Werf, Karie A; Bianco, Alex W; Giger, Urs

    2014-02-01

    Two Quarter horses with weight loss had glucosuria, euglycemia, and a mild metabolic acidosis suggesting a proximal renal tubular defect. Further testing revealed transient generalized aminoaciduria, lactic aciduria, and glucosuria, indicating Fanconi syndrome. Both horses recovered with supportive therapy. This is the first report of acquired Fanconi syndrome in horses. PMID:24489393

  11. Transient Fanconi syndrome in Quarter horses

    PubMed Central

    Ohmes, Cameon M.; Davis, Elizabeth G.; Beard, Laurie A.; Vander Werf, Karie A.; Bianco, Alex W.; Giger, Urs

    2014-01-01

    Two Quarter horses with weight loss had glucosuria, euglycemia, and a mild metabolic acidosis suggesting a proximal renal tubular defect. Further testing revealed transient generalized aminoaciduria, lactic aciduria, and glucosuria, indicating Fanconi syndrome. Both horses recovered with supportive therapy. This is the first report of acquired Fanconi syndrome in horses. PMID:24489393

  12. Overall Management of Patients with Dravet Syndrome

    ERIC Educational Resources Information Center

    Ceulemans, Berten

    2011-01-01

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

  13. The PEX study – Exercise therapy for patellofemoral pain syndrome: design of a randomized clinical trial in general practice and sports medicine [ISRCTN83938749

    Microsoft Academic Search

    Robbart van Linschoten; Marienke van Middelkoop; Marjolein Y Berger; Edith M Heintjes; Mark A Koopmanschap; Jan AN Verhaar; Bart W Koes; Sita MA Bierma-Zeinstra

    2006-01-01

    BACKGROUND: Patellofemoral complaints are frequently seen in younger and active patients. Clinical strategy is usually based on decreasing provoking activities as sports and demanding knee activities during work and leisure and reassuring the patient on the presumed good outcome. Exercise therapy is also often prescribed although evidence on effectiveness is lacking. The objective of this article is to present the

  14. Management of irritable bowel syndrome in primary care: feasibility randomised controlled trial of mebeverine, methylcellulose, placebo and a patient self-management cognitive behavioural therapy website. (MIBS trial)

    Microsoft Academic Search

    Hazel A Everitt; Rona E Moss-Morris; Alice Sibelli; Laura Tapp; Nicholas S Coleman; Lucy Yardley; Peter W Smith; Paul S Little

    2010-01-01

    BACKGROUND: IBS affects 10-22% of the UK population. Abdominal pain, bloating and altered bowel habit affect quality of life, social functioning and time off work. Current GP treatment relies on a positive diagnosis, reassurance, lifestyle advice and drug therapies, but many suffer ongoing symptoms. A recent Cochrane review highlighted the lack of research evidence for IBS drugs. Neither GPs, nor

  15. A review on cognitive behavorial therapy (CBT) and graded exercise therapy (GET) in myalgic encephalomyelitis (ME) / chronic fatigue syndrome (CFS): CBT/GET is not only ineffective and not evidence-based, but also potentially harmful for many patients with ME/CFS.

    PubMed

    Twisk, Frank N M; Maes, Michael

    2009-01-01

    Benign Myalgic Encephalomyelitis (ME) / Chronic Fatigue Syndrome (CFS) is a debilitating disease which, despite numerous biological abnormalities has remained highly controversial. Notwithstanding the medical pathogenesis of ME/CFS, the (bio)psychosocial model is adopted by many governmental organizations and medical profes-sio-nals to legitimize the combination of Cognitive Behavioral Therapy (CBT) and Graded Exercise Therapy (GET) for ME/CFS. Justified by this model CBT and GET aim at eliminating presumed psychogenic and socially induced maintaining factors and reversing deconditioning, respectively. In this review we invalidate the (bio)psychosocial model for ME/CFS and demonstrate that the success claim for CBT/GET to treat ME/CFS is unjust. CBT/GET is not only hardly more effective than non-interventions or standard medical care, but many patients report that the therapy had affected them adversely, the majority of them even reporting substantial deterioration. Moreover, this review shows that exertion and thus GET most likely have a negative impact on many ME/CFS patients. Exertion induces post-exertional malaise with a decreased physical performan-ce/aerobic capacity, increased muscoskeletal pain, neurocognitive impairment, "fatigue", and weakness, and a long lasting "recovery" time. This can be explained by findings that exertion may amplify pre-existing pa-thophysiological abnormalities underpinning ME/CFS, such as inflammation, immune dysfunction, oxidative and nitrosative stress, channelopathy, defec-tive stress response mechanisms and a hypoactive hypothalamic-pituitary-adrenal axis. We conclude that it is unethical to treat patients with ME/CFS with ineffective, non-evidence-based and potentially harmful "rehabilitation therapies", such as CBT/GET. PMID:19855350

  16. Learning about Down Syndrome

    MedlinePLUS

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  17. Premenstrual syndrome

    MedlinePLUS

    Brown I, O'Brien PMS, Marjoribanks I, Wyatt K. Selective serotonin reuptake inhibitors for premenstrual syndrome. Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and ...

  18. Tourette Syndrome

    MedlinePLUS

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

  19. Metabolic Syndrome

    MedlinePLUS

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

  20. Klinefelter syndrome

    MedlinePLUS

    47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

  1. Asperger Syndrome

    MedlinePLUS

    ... have certain genetic or chromosomal conditions, such as fragile X syndrome  or tuberous sclerosis . 11-14 When taken ... and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008; 113(1): 44- ...

  2. Hunter syndrome

    MedlinePLUS

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

  3. Goodpasture syndrome

    MedlinePLUS

    Goodpasture syndrome is a rare disease that can involve quickly worsening kidney failure and lung disease. Some ... Goodpasture syndrome is an autoimmune disorder . It occurs when the immune system mistakenly attacks and destroys healthy ...

  4. Joubert Syndrome

    MedlinePLUS

    ... sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. NIH Patient Recruitment for Joubert Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  5. Metabolic syndrome.

    PubMed

    Cho, L W

    2011-11-01

    Metabolic syndrome is a clustering of different risk factors that collectively increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and polycystic ovary syndrome. This review aims to discuss recent developments related to the syndrome, including the associated metabolic complications and goals for therapeutic strategies. PMID:22173246

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

    PubMed Central

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

    2015-01-01

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

  7. Nodular regenerative hyperplasia of the liver, CREST syndrome and primary biliary cirrhosis: an overlap syndrome?

    PubMed Central

    McMahon, R F; Babbs, C; Warnes, T W

    1989-01-01

    Nodular regenerative hyperplasia of the liver (NRHL) has been found in association with collagen vascular diseases, after drug therapy, with autoimmune disease, and with a variety of haematological disorders. The association of NRHL with the syndrome of Calcinosis cutis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasia (CREST syndrome) has only been reported on two previous occasions. The liver disease usually associated with CREST syndrome is primary biliary cirrhosis (PBC) and recently nodular hyperplasia of the liver has been reported in patients with early stage PBC. We present a case of NRHL with CREST syndrome and serological and biochemical features of PBC, a newly recognised overlap syndrome. Images Figure PMID:2583572

  8. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5˝-year-old child. PMID:22169837

  9. Aase syndrome

    MedlinePLUS

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

  10. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  11. Down syndrome

    MedlinePLUS

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

  12. Pro: 'The usefulness of biomarkers in glomerular diseases'. The problem: moving from syndrome to mechanism-individual patient variability in disease presentation, course and response to therapy.

    PubMed

    Mariani, Laura H; Kretzler, Matthias

    2015-06-01

    The diagnosis and treatment decisions in glomerular disease are principally based on renal pathology and nonspecific clinical laboratory measurements such as serum creatinine and urine protein. Using these classification approaches, patients have marked variability in rate of progression and response to therapy, exposing a significant number of patients to toxicity without benefit. Additionally, clinical trials are at risk of not being able to detect an efficacious therapy in relevant subgroups as patients with shared clinical-pathologic diagnoses have heterogeneous underlying pathobiology. To change this treatment paradigm, biomarkers that reflect the molecular mechanisms underlying the clinical-pathologic diagnoses are needed. Recent progress to identify such biomarkers has been aided by advances in molecular profiling, large-scale data generation and multi-scalar data integration, including prospectively collected clinical data. This article reviews the evolving success stories in glomerular disease biomarkers across the genotype-phenotype continuum and highlights opportunities to transition to precision medicine in glomerular disease. PMID:25994659

  13. 341. Lentiviral Vector-Mediated Gene Therapy as Treatment for Wiskott-Aldrich Syndrome (WAS): PreClinical Studies in Human Cell Lines and WASp -\\/- Mice

    Microsoft Academic Search

    S. Humblet-Baron; S. Anover; K. Kipp; Q. Zhu; P. Ye; W. Zhang; Y. Ovechkina; S. Khim; A. Astrakhan; T. Strom; D. Kohn; F. Candotti; Y. Vyas; H. Ochs; C. Miao; D. Rawlings

    2005-01-01

    WAS is an immunodeficiency characterized by recurrent infection, thrombocytopenia, eczema, and increased susceptibility to autoimmunity and malignancy. WAS results from deficient function of the WAS protein (WASp) which functions in receptor-mediated actin cytoskeletal rearrangement. Gene therapy represents an attractive potential therapeutic approach for WAS patients.Using a SIN-lentiviral vector expressing human WASp via a modified MLV- based internal promoter (MND), we

  14. Paraneoplastic Syndromes of the Nervous System

    PubMed Central

    Palma, George

    1985-01-01

    The paraneoplastic disorders of the nervous system are clinicopathologic syndromes that occur in association with systemic cancer. Dysfunction of any part of the nervous system or its effector organs may be produced by a paraneoplastic process. The temporal relationship between the onset of a paraneoplastic syndrome and the diagnosis of the associate cancer varies. Most of the paraneoplastic syndromes of the nervous system may appear months to years before the cancer is discovered. The pathogenesis of most of the paraneoplastic syndromes of the nervous system is unknown and specific, effective therapy is lacking. With rare exceptions, treatment of the associated cancer seldom alters the course of patients with these syndromes. However, in other paraneoplastic syndromes such as myasthenia gravis, myasthenic syndrome of Eaton-Lambert and polymyositis-dermatomyositis an autoimmune pathogenesis is established or strongly suspected. PMID:2992171

  15. Nijmegen breakage syndrome (NBS).

    PubMed

    Chrzanowska, Krystyna H; Gregorek, Hanna; Dembowska-Bagi?ska, Bo?enna; Kalina, Maria A; Digweed, Martin

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. PMID:22373003

  16. Sweet's syndrome with multifocal sterile osteomyelitis.

    PubMed

    Edwards, T C; Stapleton, F B; Bond, M J; Barrett, F F

    1986-08-01

    Sweet's syndrome is a rare condition characterized by fever, leukocytosis, dense dermal infiltration of leukocytes, and painful indurated cutaneous plaques. We describe a 23-month-old male infant with the typical cutaneous manifestations of Sweet's syndrome and painful extremities that limited ambulation. Evaluation revealed multifocal sterile osteomyelitis of both tibia. After the institution of systemic corticosteroid therapy, the patient's symptoms resolved, and bone scans normalized. After one year of follow-up, the patient has intermittent recrudescences that resolve during corticosteroid therapy. Sterile multifocal osteomyelitis represents another clinical manifestation of Sweet's syndrome. PMID:3728413

  17. Diagnosis and management of down syndrome.

    PubMed

    Agarwal Gupta, Neerja; Kabra, Madhulika

    2014-06-01

    Down syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neglected disorder amongst practicing physicians. Children with Down syndrome when intervened early by speech therapy, physiotherapy and occupational therapy and given proper medical attention for different health issues, can have a better long term outcome as compared to other genetic causes of intellectual disability. This paper would help the general practitioners to identify children with Down syndrome and to manage the common problems associated with this condition. PMID:24127006

  18. Amniotic Membrane Transplantation as a New Therapy for the Acute Ocular Manifestations of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

    PubMed Central

    Shay, Elizabeth; Kheirkhah, Ahmad; Liang, Lingyi; Sheha, Hossam; Gregory, Darren G.; Tseng, Scheffer C.G.

    2010-01-01

    Stevens-Johnson syndrome and its more severe variant, toxic epidermal necrolysis, have relatively low overall incidence; however, this disease presents with high morbidity and mortality. The majority of patients develop ocular inflammation and ulceration at the acute stage. Due to the hidden nature of these ocular lesions and the concentration of effort toward life-threatening issues, current acute management has not devised a strategy to preclude blinding cicatricial complications. This review summarizes recent literature data, showing how sight-threatening corneal complications can progressively develop from cicatricial pathologies of lid margin, tarsus, and fornix at the chronic stage. It illustrates how such pathologies can be prevented with the early intervention of cryopreserved amniotic membrane transplantation to suppress inflammation and promote epithelial healing at the acute stage. Significant dry eye problems and photophobia can also be avoided with this intervention. This new therapeutic strategy can avert the catastrophic ophthalmic sequelae of this rare but devastating disease. PMID:19699503

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

    PubMed Central

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

    2014-01-01

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

  20. The Gnostic Syndrome: Anorexia nervosa

    Microsoft Academic Search

    D Barrett; Harold J Fine

    1990-01-01

    ‘The Gnostic Syndrome’ discusses anorexia nervosa in terms of its poetics and in the context of a developmental object-relations theory. One case is used to illustrate the problems of therapy and the antecedents of the anorexia in childhood and adolescence. The paper forms an investigation into pre-moral states and the interaction of anorexia with character structure.

  1. The Cronkhite-Canada syndrome

    Microsoft Academic Search

    J. A. Cotterill; J. P. Hughes; J. L. Day; J. W. Paulley; E. Turk

    1973-01-01

    The eighteenth patient and seventh survivor with the Cronkhite-Canada syndrome is described. A remission of 9 years followed gastrectomy and steroid therapy. Findings on seventeen other patients described in the literature are reviewed.The histological features are discussed in detail. The jejunum, though macroscopically normal, showed oedema, increased vascularity and mucous gland secreting activity. The possible importance of this increased vascularity

  2. [Functional somatic syndrome in dental practice].

    PubMed

    Inamitsu, Tetsuaki

    2009-09-01

    Functional somatic syndromes (FSSs) are common in dental as well as medical practice. Many patients with unexplained symptoms in oro-maxillo-facial areas visit dentists, but they are not diagnosed and treated properly. Temporomandibular disorder, atypical facial pain, and glossodynia (burning mouth syndrome) are included in dental FSSs. These diseases overlap with each other and with FSSs in other organs, such as myofacial pain syndrome, tension-type headache, fibromyalgia, and chronic fatigue syndrome. They coexist with mental disorders, such as anxiety disorder, mood disorder, and somatoform disorder. Multidisciplinary and holistic approaches should be applied to dental FSSs; pharmacological therapy (antidepressants), physical therapy, and cognitive-behavioral therapy. Clinicians have to support a patient in"enjoying his/her life with symptoms". Dental specialists in "oral medicine" with psychosomatic viewpoints are now required. PMID:19768911

  3. Angular gyrus syndrome mimicking depressive pseudodementia

    PubMed Central

    Nagaratnam, Nages; Phan, Tai Anh; Barnett, Claire; Ibrahim, Neamat

    2002-01-01

    A 67-year-old left-handed woman with a diagnosis of pseudodementia was being treated for depression with little benefit. Neuropsychological evaluations revealed features of angular gyrus syndrome, namely, agraphia, alexia, Gerstmann's syndrome and behavioural manifestations such as depression, poor memory, frustration and irritability. A computed tomographic scan showed a right occipito-temporal infarction, which had occurred 18 months earlier. The patient demonstrated aspects of language dysfunction associated with the syndrome and showed reversed lateralization of cerebral functions. Recognizing and distinguishing between angular gyrus syndrome and depression is important because the appropriate therapies differ. The use of the term pseudodementia can be misleading. PMID:12271792

  4. Guillain-Barré syndrome.

    PubMed

    Walling, Anne D; Dickson, Gretchen

    2013-02-01

    Guillain-Barré syndrome consists of a group of neuropathic conditions characterized by progressive weakness and diminished or absent myotatic reflexes. The estimated annual incidence in the United States is 1.65 to 1.79 per 100,000 persons. Guillain-Barré syndrome is believed to result from an aberrant immune response that attacks nerve tissue. This response may be triggered by surgery, immunizations, or infections. The most common form of the disease, acute inflammatory demyelinating polyradiculoneuropathy, presents as progressive motor weakness, usually beginning in the legs and advancing proximally. Symptoms typically peak within four weeks, then plateau before resolving. More than one-half of patients experience severe pain, and about two-thirds have autonomic symptoms, such as cardiac arrhythmias, blood pressure instability, or urinary retention. Advancing symptoms may compromise respiration and vital functions. Diagnosis is based on clinical features, cerebrospinal fluid testing, and nerve conduction studies. Cerebrospinal fluid testing shows increased protein levels but a normal white blood cell count. Nerve conduction studies show a slowing, or possible blockage, of conduction. Patients should be hospitalized for multidisciplinary supportive care and disease-modifying therapy. Supportive therapy includes controlling pain with nonsteroidal anti-inflammatory drugs, carbamazepine, or gabapentin; monitoring for respiratory and autonomic complications; and preventing venous thrombosis, skin breakdown, and deconditioning. Plasma exchange therapy has been shown to improve short-term and long-term outcomes, and intravenous immune globulin has been shown to hasten recovery in adults and children. Other therapies, including corticosteroids, have not demonstrated benefit. About 3 percent of patients with Guillain-Barré syndrome die. Neurologic problems persist in up to 20 percent of patients with the disease, and one-half of these patients are severely disabled. PMID:23418763

  5. The physical activity levels among people living with human immunodeficiency virus/acquired immunodeficiency syndrome receiving high active antiretroviral therapy in Rwanda

    PubMed Central

    Frantz, J.M.; Murenzi, A.

    2014-01-01

    The accessibility of high active antiretroviral therapy (HAART) for local human immunodeficiency virus (HIV) patients is improving in Rwanda. It is well known that this therapy is associated with serious adverse effects, such as metabolic and morphologic changes. One of the recommended preventive modalities for these complications is participation in physical activity. The current study aims to determine the anthropometric profile and physical activity levels among people living with HIV and receiving HAART in Kigali, Rwanda. The study was a cross-sectional, descriptive quantitative survey. The participant's levels of physical activity participation and their association with anthropometric profiles were measured, using a structured self-administered questionnaire for 407 clients passing through the clinics. Of the participants, approximately 70% were inactive and in addition, 40% were obese and 43% overweight. Obesity was found to be strongly associated with inactivity. Lack of motivation, and time as well as fear of worsening the disease were found to be barriers to participation in physical activity. PMID:24521093

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

    PubMed Central

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

    2013-01-01

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

  7. Progressive multifocal leukoencephalopathy therapy.

    PubMed

    Clifford, David B

    2014-09-17

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

  8. Behcet's Syndrome.

    PubMed

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-01

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).? inhibitors, among others. In this article, we review the salient clinical studies for each drug class along with important side effects as well as drug toxicity monitoring. Management of the patient with BS is complex and oftentimes requires a multidisciplinary approach. We discuss strategies to assess and stratify patients based on clinical manifestations and disease severity. A summary of drug toxicities as they relate to the aforementioned pharmacological agents, as well as guidelines regarding vaccinations in this patient population, are offered. Finally, we conclude with treatment strategies for the common manifestations of BS along with a discussion of the management of thrombotic disease in these patients. PMID:23153327

  9. Surgery for Tourette syndrome.

    PubMed

    Ackermans, Linda; Kuhn, Jens; Neuner, Irene; Temel, Yasin; Visser-Vandewalle, Veerle

    2013-01-01

    Tourette syndrome is a chronic neuropsychiatric disorder characterized by motor and vocal tics. In the majority of cases, tics are associated by behavioral disorders such as obsessive-compulsive behavior. First symptoms typically appear in early childhood. Mostly symptoms disappear when adulthood is reached. Treatment options consist of behavioral therapy and medication. In refractory cases, surgery may be an option. In the past, several attempts have been made to treat therapy-refractory patients through neurosurgical ablative procedures. In 1999, deep brain stimulation was introduced as a novel treatment option for patients with intractable Tourette syndrome. Up until now, five brain areas have been used or suggested as potential target areas for deep brain stimulation in Tourette syndrome. In the majority of the published cases, there is a clear effect on tics but most studies consist of only a limited number of patients. A strict patient selection is absolutely mandatory. There is a need for double-blinded multicenter trials with inclusion of more patients. PMID:22722039

  10. Sweet syndrome associated with interferon.

    PubMed

    Rodriguez-Lojo, Romina; Castińeiras, Iria; Juarez, Yolanda; Lueiro, Mercedes; Armesto, Ana; Fernandez-Diaz, M Luisa

    2015-02-01

    Although still very rare, drug-related cases of Sweet's syndrome have been reported. The more frequent associated medications with drug induced Sweet´s syndrome was: tetracyclines, trimethoprim-sulphamethaxazol, azatioprine, all trans retinoic acid, nitrofurantoin, granulocyte colony-stimulating factor, hydralazine, tripharil, lithium, oral contraceptives, furosemide, celecoxib and azathioprine. We only found one case of drug-induced Sweet´s syndrome secondary to pegylated interferon-alpha in combination with ribavirin reported in literature. To our knowledge, this one is the first reported case of Sweet's syndrome in association with interferon beta 1-b therapy.Also, we would like to remark the atypical localization of the lesions in our patient, with a unilateral predominance on the left lower extremity and a very severe pain. PMID:25756490

  11. Calcitonin and reflex sympathetic dystrophy syndrome

    Microsoft Academic Search

    C. Gobelet; J.-L. Meier; W. Schaffner; A. Bischof-Delaloye; J.-C. Gerster; P. Burckhardt

    1986-01-01

    Summary  \\u000aReflex sympathetic dystrophy syndrome is a difficult condition to treat. Many modalities have been proposed, all of them being clinically effective but whose efficacy is often difficult to assess, and has not been properly compared. A regimen of physical therapy (pressure therapy, antalgic electrotherapy and exercise therapy) with or without calcitonin was investigated in 24 patients randomly assigned to

  12. Marfan syndrome: An eyesight of syndrome?

    PubMed Central

    Kumar, Ashok; Agarwal, Sarita

    2014-01-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  13. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  14. Colonic smooth muscle cells and colonic motility patterns as a target for irritable bowel syndrome therapy: mechanisms of action of otilonium bromide

    PubMed Central

    Rychter, Jakub; Espín, Francisco; Gallego, Diana; Vergara, Patri; Jiménez, Marcel

    2014-01-01

    Otilonium bromide (OB) is a spasmolytic compound of the family of quaternary ammonium derivatives and has been successfully used in the treatment of patients with irritable bowel syndrome (IBS) due to its specific pharmacodynamic effects on motility patterns in the human colon and the contractility of colonic smooth muscle cells. This article examines how. OB inhibits the main patterns of human sigmoid motility in vitro, which are spontaneous rhythmic phasic contractions, smooth muscle tone, contractions induced by stimulation of excitatory motor neurons and contractions induced by direct effect of excitatory neurotransmitters. It does this mainly by blocking calcium influx through L-type calcium channels and interfering with mobilization of cellular calcium required for smooth muscle contraction, thereby limiting excessive intestinal contractility and abdominal cramping. OB also inhibits T-type calcium channels and muscarinic responses. Finally, OB inhibits tachykinin receptors on smooth muscle and primary afferent neurons which may have the joint effect of reducing motility and abdominal pain. All these mechanisms mediate the therapeutic effects of OB in patients with IBS and might be useful in patients with other spastic colonic motility disorders such as diverticular disease. PMID:25057296

  15. Metabolic syndrome in Spanish patients with psoriasis needing systemic therapy: Prevalence and association with cardiovascular disease in PSO-RISK, a cross-sectional study.

    PubMed

    Belinchón, I; Vanaclocha, F; de la Cueva-Dobao, P; Coto-Segura, P; Labandeira, J; Herranz, P; Taberner, R; Juliá, B; Cea-Calvo, L; Puig, L

    2014-11-28

    Abstract Background: Increasing evidence indicates a relationship between psoriasis and metabolic syndrome (MS). We evaluated the prevalence of MS in patients receiving systemic treatment for psoriasis in Spain, and its relationship to cardiovascular disease (CVD). Methods: This cross-sectional, multicenter, non-interventional study enrolled 368 patients with moderate-to-severe psoriasis requiring systemic treatment. Clinical parameters for psoriasis, CV risk factors, MS and CVD were assessed. Descriptive and logistic regression analyses were performed. Results: 352 patients were included (median psoriasis duration: 18 years, plaque psoriasis [95.7%], psoriatic arthritis [22.8%]). Overall, 132 patients (37.5%) fulfilled diagnostic criteria for MS; the most prevalent MS components were high blood pressure and increased waist circumference. Patients with MS were older, more likely to be obese and to have a sedentary lifestyle and hypercholesterolemia than those without MS. CVD was more prevalent in patients with MS than in those without (29.5% versus 15.9%, p?=?0.002), particularly coronary heart disease (CHD), myocardial infarction and heart failure. MS was independently associated with CVD (OR 1.98, p?=?0.018) and CHD (OR 2.02, p?=?0.044). Conclusion: The prevalence of MS was high among patients with moderate-to-severe psoriasis requiring systemic treatment, and was associated with a higher prevalence of CVD. Dermatologists should consider implementing simple screening protocols. PMID:25362972

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-03-01

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

  18. Genetic syndromes associated with overgrowth in childhood

    PubMed Central

    2013-01-01

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

  19. Genetic syndromes associated with overgrowth in childhood.

    PubMed

    Ko, Jung Min

    2013-09-01

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

  20. Learning about Velocardiofacial Syndrome

    MedlinePLUS

    ... terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? What are the ... Syndrome Additional Resources for VCFS What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a genetic condition that ...

  1. [Capgras' syndrome].

    PubMed

    Ben-Zion, I Z; Levine, K; Shiber, A

    1997-09-01

    We present 3 cases of Capgras' syndrome-a delusional disorder in which the patient believes that 1 (or more) of his acquaintances has been replaced by an imposter who appears as a double. 2 were schizophrenics and 1 had depression with psychotic features. This syndrome is rare in our practice, but we do not know if this is due to lack of awareness of the condition, or to the possibility that it is a culture-related syndrome. We suggest that although the syndrome has lost some of it's significance, it is still worth making the diagnosis because of the medical and psychological implications this condition carries. PMID:9461686

  2. Ischiofemoral impingement syndrome.

    PubMed

    Lee, Soyoung; Kim, Inhwan; Lee, Sung Moon; Lee, Jieun

    2013-02-01

    Ischiofemoral impingement syndrome is known as one of the causes of hip pain due to impingement of ischium and femur, and usually correlated with trauma or operation. We report a rare case of ischiofemoral impingement syndrome that has no history of trauma or surgery. A 48-year-old female patient was referred for 2 months history of the left hip pain, radiating to lower extremity with a hip snapping sensation. She had no history of trauma or surgery at or around the hip joint and femur. The magnetic resonance imaging (MRI) of the lumbar spine showed no abnormality, except diffuse bulging disc without cord compression at the lumbosacral area. Electrophysiologic study was normal, and there were no neurologic abnormalities compatible with the lumbosacral radiculopathy or spinal stenosis. Hip MRI revealed quadratus femoris muscle edema with concurrent narrowing of the ischiofemoral space. The distance of ischiofemoral space and quadratus femoris space were narrow. It was compatible with ischiofemoral impingement syndrome. After treatment with nonsteroidal anti-inflammatory drugs, physical therapy, and exercise program, the patient's pain was relieved and the snapping was improved. To our knowledge, this is the first reported case of a nontraumatic, noniatrogenic ischiofemoral impingement syndrome, and also the first case to be treated by a nonsurgical method in the Republic of Korea. PMID:23526578

  3. Multiple organ dysfunction syndrome.

    PubMed Central

    Murray, M. J.; Coursin, D. B.

    1993-01-01

    The multiple organ dysfunction syndrome (MODS), though newly described, has manifested itself in intensive care unit (ICU) patients for several decades. As the name implies, it is a syndrome in which more than one organ system fails. Failure of these multiple organ systems may or may not be related to the initial injury or disease process for which the patient was admitted to the ICU. MODS is the leading cause of morbidity and mortality in current ICU practice. While the pathophysiology of MODS is not completely known, much evidence indicates that, during the initial injury which precipitates ICU admission, a chain of events is initiated which results in activation of several endogenous metabolic pathways. These pathways release compounds which, in and of themselves, are usually cytoprotective. However, an over exuberant activation of these endogenous systems results in an inflammatory response which can lead to development of failure in distant organs. As these organs fail, they activate and propagate the systemic inflammatory response. No therapy has proven entirely efficacious at modulating this inflammatory response and the incidence and severity of MODS. In current ICU practice, treatment is focused on prevention and treating individual organ dysfunction as it develops. With increased understanding of the pathophysiology of MODS therapy will come newer modalities which inhibit or interfere with the propagation of the endogenous systemic inflammatory response. These newer therapies hold great promise and already some are undergoing clinical investigation. PMID:7825351

  4. Down Syndrome What causes Down syndrome?

    E-print Network

    Palmeri, Thomas

    04/13 Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra chromosome 21. Down syndrome occurs in about 1 in every 700 to 1,000 births. The chance of giving birth to a baby with Down syndrome increases if the mother is over 35 years old. Down syndrome affects both males

  5. Low dose high frequency ultrasound therapy for stellate ganglion blockade in complex regional pain syndrome type I: a randomised placebo controlled trial

    PubMed Central

    Askin, Ayhan; Savas, Serpil; Koyuncuoglu, Hasan Rifat; Baloglu, Hale Hekim; Inci, Mehmet Fatih

    2014-01-01

    Background: We aimed to determine the sympatholytic and clinical effects of low dose high frequency ultrasound (US) applied on stellate ganglion in Complex Regional Pain Syndrome (CRPS) type I patients. Material and method: Fourty-five patients with CRPS type I were randomly allocated into three groups. Pharmacological treatment, transcutaneous electrical nerve stimulation (TENS), contrast bath and exercise were applied to all groups for 20 sessions. In addition to this treatment protocol, low dose high frequency US was applied on stellate ganglion as 0.5 watts/cm2 in group I; 3 watts/cm2 in group II and as placebo in group III. Forty age and sex matched healthy controls were served as controls. Sympathetic skin response (SSR) was used for determining the sympatholytic effects of US. Pain was assessed with visual analog scale (VAS), limitation of total finger flexion was assessed with finger pulp-distal crease distance, muscle strength was assessed with measuring the grip strength, upper extremity disability was assessed with Disability of the Arm, Shoulder and Hand (DASH) scale before and after the treatment. Results: All groups evalueted in terms of VAS score, finger pulp-distal crease distance, grip strength and DASH score after the treatment. The improvements in those parameters were not statistically significant between the groups (P > 0.05). SSR latency was significantly shorter in CRPS patients than controls (P < 0.05). Pre- and post-treatment SSR amplitude and latency values were not different within patient groups (P > 0.05). The differences in pre- and post-treatment SSR amplitude and latency values were not statistically different between patient groups (P > 0.05). Conclusion: Low dose high frequency US applied on stellate ganglion did not make a sympathetic blockade and was not of further benefit for pain, range of motion, grip strength and upper extremity disability in CRPS type I patients. PMID:25664079

  6. A randomised controlled trial assessing the efficacy and safety of repeated tegaserod therapy in women with irritable bowel syndrome with constipation

    PubMed Central

    Tack, J; Müller-Lissner, S; Bytzer, P; Corinaldesi, R; Chang, L; Viegas, A; Schnekenbuehl, S; Dunger-Baldauf, C; Rueegg, P

    2005-01-01

    Background: It has been proposed that treatments for irritable bowel syndrome with constipation (IBS-C) should provide rapid symptomatic relief, be intermittent, and effective upon repeated use. Aims: To evaluate the efficacy and safety of tegaserod on IBS symptoms, and its impact on quality of life and health economic measures. Patients: Women (?18 years of age) with IBS-C according to the Rome II criteria. Methods: Prospective, double blind, placebo controlled, randomised trial. Women with IBS-C either received tegaserod 6 mg twice daily or placebo for one month. Patients with at least a partial response entered a treatment free interval. Upon symptom recurrence, tegaserod treated patients were re-randomised to tegaserod or placebo for an additional month. Primary efficacy variables were response (overall IBS symptoms and abdominal discomfort/pain) to first and repeated treatment. Analysis was by intention to treat. Results: 2660 patients and 1191 patients were randomised for first and repeated treatment respectively. Tegaserod was superior to placebo for each primary efficacy variable (first treatment: 33.7% v 24.2% responders respectively for relief of IBS symptoms and 31.3% v 22.1% for relief of abdominal discomfort/pain; repeated treatment: 44.9% v 28.7%, and 42.4% v 27.1%, all p<0.0001). Tegaserod was superior to placebo for every secondary efficacy variable (relief of abdominal discomfort/pain, bloating and constipation; stool frequency and consistency). A response to tegaserod was observed within the first treatment week. Tegaserod produced greater satisfaction, work productivity, and improved quality of life than placebo (p<0.05). Conclusion: Tegaserod provides rapid and sustained relief of IBS-C symptoms both during first and repeated treatment. PMID:16020489

  7. The QT syndromes: long and short.

    PubMed

    Morita, Hiroshi; Wu, Jiashin; Zipes, Douglas P

    2008-08-30

    This Seminar presents the most recent information about the congenital long and short QT syndromes, emphasising the varied genotype-phenotype association in the ten different long QT syndromes and the five different short QT syndromes. Although uncommon, these syndromes serve as a Rosetta stone for the understanding of inherited ion-channel disorders leading to life-threatening cardiac arrhythmias. Ionic abnormal changes mainly affecting K(+), Na(+), or Ca(2+) currents, which either prolong or shorten ventricular repolarisation, can create a substrate of electrophysiological heterogeneity that predisposes to the development of ventricular tachyarrhythmias and sudden death. The understanding of the genetic basis of the syndromes is hoped to lead to genetic therapy that can restore repolarisation. Presently, symptomatic individuals are generally best treated with an implantable cardioverter defibrillator. Clinicians should be aware of these syndromes and realise that drugs, ischaemia, exercise, and emotions can precipitate sudden death in susceptible individuals. PMID:18761222

  8. Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy.

    PubMed

    Kochhar, Harpreet; Leger, Chantal S; Leitch, Heather A

    2015-01-01

    Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient's course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias. PMID:25918650

  9. Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy

    PubMed Central

    Kochhar, Harpreet; Leger, Chantal S.; Leitch, Heather A.

    2015-01-01

    Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient's course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias. PMID:25918650

  10. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

    PubMed

    Samango-Sprouse, Carole A; Sadeghin, Teresa; Mitchell, Francine L; Dixon, Teresa; Stapleton, Emily; Kingery, Madison; Gropman, Andrea L

    2013-03-01

    The effects of early androgen treatment on neurodevelopmental performance in pre-pubertal boys with 47,XXY have not been well investigated. The influence of hormones on brain development in humans suggests that a positive effect on neurodevelopmental outcome in young boys with XXY may be plausible with hormone replacement therapy. The aim of the study was to investigate retrospectively if an early course of androgen treatment (three injections of testosterone enanthate, 25 mg, each) had an impact on specific domains of neurodevelopmental function in boys with 47,XXY at 36 and 72 months of age. One hundred one boys with a karyotype of 47,XXY had neurodevelopmental assessments. The retrospective chart review resulted in one group (n = 34) who had received androgen treatment during infancy and the second group was untreated (N = 67). Statistical analysis was completed to determine if there was a positive effect from treatment observed at 36 and at 72 months on multiple domains of development. There were significant differences in multiple cognitive domains in the group who received androgen treatment, including multiple measures of language, intellectual, and neuromotor skills. Improved function was observed in neurodevelopmental outcome in boys with 47,XXY at 36 and 72 months who had been treated with a short course of androgen treatment in infancy. Continued research is underway to expand our understanding of the relationship of androgen, brain function, and neurobehavioral and neurodevelopmental outcome in boys with 47,XXY. PMID:23345253

  11. Klinefelter Syndrome

    MedlinePLUS

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic centers called ...

  12. HELLP Syndrome

    MedlinePLUS

    ... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

  13. Local therapy of cancer with free IL2

    Microsoft Academic Search

    Willem Den Otter; John J. L. Jacobs; Jan J. Battermann; Gerrit Jan Hordijk; Zachary Krastev; Ekaterina V. Moiseeva; Rachel J. E. Stewart; Paul G. P. M. Ziekman; Jan Willem Koten

    2008-01-01

    This is a position paper about the therapeutic effects of locally applied free IL-2 in the treatment of cancer. Local therapy: IL-2 therapy of cancer was originally introduced as a systemic therapy. This therapy led to about 20% objective responses.\\u000a Systemic therapy however was very toxic due to the vascular leakage syndrome. Nevertheless, this treatment was a break-through\\u000a in cancer

  14. [Greater trochanteric pain syndrome].

    PubMed

    Nissen, M J; Genevay, S

    2015-03-11

    Trochanteric bursitis, also known as "greater trochanter pain syndrome", is a frequent and often under-diagnosed cause of pain in the lateral hip region. The diagnosis is essentially based on the clinical examination; however various forms of imaging may be useful to confirm the diagnosis and particularly to ex- clude other aetiologies. The different therapeutic options include non-steroidal anti-inflammatories, physiotherapy, local injections of cortisone and local anaesthetic, and extra-corporeal shock wave therapy. Surgical intervention is only indicated in rare cases. PMID:25946869

  15. Genetic Stroke Syndromes

    PubMed Central

    Barrett, Kevin M.; Meschia, James F.

    2014-01-01

    Purpose of Review: This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke. Recent Findings: Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes. Summary: Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis. PMID:24699489

  16. Tolosa-Hunt syndrome masquerading as Gradenigo syndrome in a teenager.

    PubMed

    Slattery, Eric; White, Andrew J; Gauthier, Megan; Linscott, Luke; Hirose, Keiko

    2013-07-01

    Tolosa-Hunt syndrome is an idiopathic chronic granulomatous inflammatory process commonly involving the cavernous sinus and the orbit. Symptoms include unilateral eye pain, ophthalmoplegia, headache, and facial pain in the distribution of the upper divisions of the trigeminal nerve and are highly responsive to steroid therapy. Gradenigo syndrome describes extension of a middle ear infection to the petrous apex, with trigeminal pain and ophthalmoplegia, typically responsive to antibiotics and often surgical drainage. We report a case of a 17 year-old girl with apparent Gradenigo syndrome, presenting with unilateral eye pain, abducens palsy, headache, hearing loss and serous otitis media, who was ultimately diagnosed with Tolosa-Hunt syndrome. PMID:23684166

  17. Genetics Home Reference: Noonan syndrome

    MedlinePLUS

    ... use for Noonan syndrome? familial Turner syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Noonan-Ehmke syndrome pseudo-Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype, ...

  18. The safety and pharmacokinetics of single-agent and combination therapy with megestrol acetate and dronabinol for the treatment of HIV wasting syndrome. The DATRI 004 Study Group. Division of AIDS Treatment Research Initiative.

    PubMed

    Timpone, J G; Wright, D J; Li, N; Egorin, M J; Enama, M E; Mayers, J; Galetto, G

    1997-03-01

    This randomized, open-labeled, multicenter study was designed to assess safety and pharmacokinetics of dronabinol (Marinol) tablets and megestrol acetate (Megace) micronized tablets, alone and in combination, for treatment of HIV wasting syndrome. Weight and quality of life data were also collected. Fifty-two patients (mean CD4+ count, 59 cells/microliter) were randomized to one of four treatment arms: dronabinol 2.5 mg twice/day (D); megestrol acetate 750 mg/day (M750); megestrol acetate 750 mg/day+dronabinol 2.5 mg twice/day (M750+D); or megestrol acetate 250 mg/day+dronabinol 2.5 mg twice/day (M250+D). After therapy initiation, 47 patients returned for at least one visit, and 39 completed the planned 12 weeks of study visits. Occurrence of adverse events, drug discontinuation, new AIDS-defining conditions, or CD4+ T lymphocyte changes were not statistically significantly different among arms. Serious adverse events assessed as related to dronabinol included CNS events (e.g., confusion, anxiety, emotional lability, euphoria, hallucinations) and those assessed as related to megestrol acetate included dyspnea, liver enzyme changes, and hyperglycemia. The mean weight change +/- SE over 12 weeks was as follows: D, -2.0 +/- 1.3 kg; M750, +6.5 +/- 1.1 kg; M750+D, +6.0 +/- 1.0 kg; and M250+D, -0.3 +/- 1.0 kg (difference among treatment arms, p = 0.0001). Pharmacokinetic parameters measured after 2 weeks of therapy for M750 were Cmax = 985 ng/ml and AUC = 22,487 ng x hr/ml, and for dronabinol and its active metabolite (HO-THC), respectively, were Cmax = 2.01; 4.61 ng/ml and AUC = 5.3; 23.7 ng x hr/ml. For megestrol acetate, but not dronabinol, there was a positive correlation at week 2 between both Cmax and AUC with each of the following: (1) weight change, (2) breakfast visual analog scale for hunger (VASH) score, and (3) dinner VASH score. PMID:9071430

  19. The acute respiratory distress syndrome

    PubMed Central

    Gupta, Pooja

    2015-01-01

    The acute respiratory distress syndrome (ARDS) is a major cause of acute respiratory failure. Its development leads to high rates of mortality, as well as short- and long-term complications, such as physical and cognitive impairment. Therefore, early recognition of this syndrome and application of demonstrated therapeutic interventions are essential to change the natural course of this devastating entity. In this review article, we describe updated concepts in ARDS. Specifically, we discuss the new definition of ARDS, its risk factors and pathophysiology, and current evidence regarding ventilation management, adjunctive therapies, and intervention required in refractory hypoxemia. PMID:25829644

  20. Blue rubber bleb nevus syndrome

    PubMed Central

    Carr, Michele M.; Jamieson, Christopher G.; Lal, Geeta

    1996-01-01

    Blue rubber bleb nevus syndrome, an uncommon condition, is manifested by gastrointestinal and skin hemangiomas and gastrointestinal hemorrhage causing anemia. The authors report a unique case of the syndrome in association with a congenital cardiac malformation. A 26-year-old woman presented with iron-deficiency anemia after the birth of her first child. She had a history of skin and gastrointestinal hemangiomas and tetralogy of Fallot. Endoscopy revealed multiple new intestinal hemangiomas, which were removed through enterotomies with resolution of the anemia. Iron therapy was prescribed, and her condition was stable at follow-up 5 years later. PMID:8599795

  1. The acute respiratory distress syndrome.

    PubMed

    Modrykamien, Ariel M; Gupta, Pooja

    2015-04-01

    The acute respiratory distress syndrome (ARDS) is a major cause of acute respiratory failure. Its development leads to high rates of mortality, as well as short- and long-term complications, such as physical and cognitive impairment. Therefore, early recognition of this syndrome and application of demonstrated therapeutic interventions are essential to change the natural course of this devastating entity. In this review article, we describe updated concepts in ARDS. Specifically, we discuss the new definition of ARDS, its risk factors and pathophysiology, and current evidence regarding ventilation management, adjunctive therapies, and intervention required in refractory hypoxemia. PMID:25829644

  2. Ticagrelor for acute coronary syndromes.

    PubMed

    Bansilal, Sameer; Bonaca, Marc P; Sabatine, Marc S

    2013-11-01

    Ticagrelor is a potent P2Y12 adenosine diphosphate receptor antagonist characterized by a rapid onset, consistent and reversible antiplatelet effect, and an acceptable safety profile compared with existing adenosine diphosphate receptor blockers. In the large Phase III trial, PLATO, ticagrelor significantly reduced the composite of cardiovascular death, myocardial infarction, or stroke as well as cardiovascular and all-cause mortality compared with clopidogrel in patients presenting with acute coronary syndromes. With its favorable impact on mortality, ticagrelor changes the landscape of anti-thrombotic therapy for patients with acute coronary syndromes. PMID:24147518

  3. Therapy Treatments

    MedlinePLUS

    ... A variety of professionals can help individuals with Fragile X syndrome and their families manage the symptoms of the ... specialists: Speech-language therapists can help people with Fragile X syndrome improve their pronunciation of words and sentences, slow ...

  4. Negative labeling and social exclusion of people living with human immunodeficiency virus/acquired immune deficiency syndrome in the antiretroviral therapy era: insight from attitudes and behavioral intentions of female heads of households in Zambézia Province, Mozambique.

    PubMed

    Mukolo, Abraham; Blevins, Meridith; Hinton, Nicole; Victor, Bart; Vaz, Lara M E; Sidat, Mohsin; Vergara, Alfredo E

    2014-01-01

    In the age of antiretroviral therapy (ART), unraveling specific aspects of stigma that impede uptake and adherence to human immunodeficiency virus (HIV) services and the complex intersections among them might enhance the efficacy of stigma-reduction interventions targeted at the general public. Few studies have described community stigma in high HIV prevalence regions of Mozambique where program scale-up has been concentrated, but fear of stigma persists as a barrier to HIV service uptake. Principal components analysis of attitudinal data from 3749 female heads of households surveyed in Zambézia Province was used to examine patterns of agreement with stigmatizing attitudes and behavior toward people living with HIV. Inferences were based on comparison of factor loadings and commonality estimates. Construct validity was established through correlations with levels of knowledge about HIV transmission and consistency with the labeling theory of stigma. Two unique domains of community stigma were observed: negative labeling and devaluation (NLD, ? = 0.74) and social exclusion (SoE, ? = 0.73). NLD is primarily an attitudinal construct, while SoE captures behavioral intent. About one-third of the respondents scored in the upper tertile of the NLD stigma scale (scale: 0-100 stigma points) and the equivalent was 41.3% in the SoE stigma scale. Consistent with literature, NLD and SoE stigma scores were inversely correlated with HIV transmission route knowledge. In item level analysis, fear of being labeled a prostitute/immoral and of negative family affect defined the nature of stigma in this sample. Thus, despite ART scale-up and community education about HIV/acquired immune deficiency syndrome (AIDS), NLD and SoE characterized the community stigma of HIV in this setting. Follow-up studies could compare the impact of these stigma domains on HIV services uptake, in order to inform domain-focused stigma-reduction interventions. PMID:24274172

  5. Empty nose syndrome.

    PubMed

    Kuan, Edward C; Suh, Jeffrey D; Wang, Marilene B

    2015-01-01

    Empty nose syndrome (ENS) is a rare, late complication of turbinate surgery. The most common clinical symptoms are paradoxical nasal obstruction, nasal dryness and crusting, and a persistent feeling of dyspnea. Little is known about the pathogenesis of ENS, though it is speculated that anatomical changes leading to alterations in local environment, disruption of mucosal cooling, and disruption of neurosensory mechanisms are strongly implicated. The diagnosis is clinical, though often difficult to make due to the poor correlation between subjective and objective findings. Medical therapies include mucosal humidification, irrigations, and emollients. Surgical therapy should be reserved for refractory cases and may involve turbinate reconstruction, most commonly using implantable biomaterials. Ultimately, prevention of this feared complication through turbinate-sparing techniques is essential. PMID:25430954

  6. Goldenhar syndrome.

    PubMed

    Sharma, Neeraj; Passi, Sidhi

    2013-01-01

    Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

  7. MR Imaging of Tolosa-Hunt Syndrome

    Microsoft Academic Search

    David M. Yousern; Scott W. AtIa; Robert I. Grossman; Robert C. Sergott; Peter J. Savino; Thomas M. Bosley

    The Tolosa-Hunt syndrome consists of painful ophthalmoplegia caused by cavernous sinus inflammation, which is responsive to steroid therapy. The MR features of 11 patients with the clinical diagnosis of Tolosa-Hunt syndrome were studied. Two patients had normal MR studies of the orbit and cavernous sinuses. In nine patients, abnormal signal and\\/or mass lesions were seen in the cavernous sinuses; in

  8. Bartter syndrome

    MedlinePLUS

    ... to reabsorb sodium. Persons affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body. This ...

  9. Marfan Syndrome

    MedlinePLUS

    ... Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A ... shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies ...

  10. Aicardi syndrome

    MedlinePLUS

    ... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  11. Sjögren's Syndrome

    MedlinePLUS

    ... effects of saliva, you may develop more dental decay (cavities) and mouth infections. Sjögren’s syndrome can also ... mouth makes you extremely prone to progressive dental decay (cavities). Water. Take sips of water or another ...

  12. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  13. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  14. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  15. Alagille Syndrome

    MedlinePLUS

    ... bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the ... syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of ...

  16. Ohtahara Syndrome

    MedlinePLUS

    ... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...

  17. Sotos Syndrome

    MedlinePLUS

    ... threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age ...

  18. Marfan Syndrome

    MedlinePLUS

    ... surgery. Some people may also choose to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  19. Menkes syndrome

    MedlinePLUS

    Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it. ... Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J- ...

  20. Hurler Syndrome

    MedlinePLUS

    ... the body how to work properly. In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block chemicals into smaller ones. When ...

  1. Aortoduodenal syndrome.

    PubMed

    Takagi, H; Watanabe, T; Umemoto, T

    2015-10-01

    Duodenal obstruction caused by abdominal aortic aneurysm (AAA), i.e. "aortoduodenal syndrome," first described by Osler in 1905 is a rare clinical entity, with only several dozens of cases reported in the literature. In the present paper, we systematically searched literature and reviewed them. Databases including MEDLINE and EMBASE were searched from January 1981 to April 2014 using Web-based search engines (PubMed and OVID). Eighteen papers reported 21 cases with aortoduodenal syndrome. Mean age of patients was 74.5±8.4 years, 71.4% of patients were men, and mean AAA diameter was 7.2±2.1 cm. We also discussed confusion between aortoduodenal syndrome and "superior mesenteric artery syndrome" associated with AAA. PMID:25216355

  2. Sjogren's Syndrome

    MedlinePLUS

    ... and destroy the glands that produce tears and saliva. Sjögren's syndrome is also associated with rheumatic disorders ... increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, ...

  3. Isaac's Syndrome

    MedlinePLUS

    ... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

  4. 76 FR 49774 - Cellular, Tissue and Gene Therapies Advisory Committee; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-11

    ...Cellular, Tissue and Gene Therapies Advisory Committee...Cellular, Tissue and Gene Therapies Advisory Committee...thalassemia, Hurler syndrome, Krabbe disease, and...default.htm. Scroll down to the appropriate...

  5. What Are the Treatments for Prader-Willi Syndrome?

    MedlinePLUS

    ... GH therapy can help improve speech, improve abstract reasoning, and often allow information to be processed more ... Willi syndrome: A 4-year study. Journal of Clinical Endocrinology & Metabolism, 87 , 1581-1585. [top] Buiting, K., ...

  6. Hyperventilation syndrome

    Microsoft Academic Search

    Richard E. Brashear

    1983-01-01

    The hyperventilation syndrome, primary alveolar hyperventilation and respiratory alkalosis accompanied by various signs and\\u000a symptoms, occurs in about 6–11% of the general patient population. The causes of hyperventilation are: 1) organic and physiologic\\u000a and, 2) psychogenic (emotional\\/habit). Hyperventilation syndrome excludes hyperventilation that is compensatory or caused\\u000a by organic or physiologic factors. Acute or chronic anxiety is usually considered the predominant

  7. Burning mouth syndrome

    PubMed Central

    2008-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18-33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to February 2007 (BMJ Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 12 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:19450321

  8. Burning mouth syndrome

    PubMed Central

    2010-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18% to 33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to November 2009 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 15 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:21418666

  9. Chronic fatigue syndrome

    PubMed Central

    2011-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2010 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:21615974

  10. Chronic fatigue syndrome

    PubMed Central

    2008-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to September 2007 (BMJ Clinical evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 45 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:19445810

  11. Prescribing patterns in premenstrual syndrome

    PubMed Central

    Wyatt, Katrina M; Dimmock, Paul W; Frischer, Martin; Jones, Paul W; O'Brien, Shaugn PM

    2002-01-01

    Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS) have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998) within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy. PMID:12086594

  12. Cardiac Syndrome X: update 2014.

    PubMed

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

    2014-08-01

    Cardiac Syndrome X (CSX), characterized by angina-like chest discomfort, ST segment depression during exercise, and normal epicardial coronary arteries at angiography, is highly prevalent in women. CSX is not benign, and linked to adverse cardiovascular outcomes and a poor quality of life. Coronary microvascular and endothelial dysfunction and abnormal cardiac nociception have been implicated in the pathogenesis of CSX. Treatment includes life-style modification, anti-anginal, anti-atherosclerotic, and anti-ischemic medications. Non-pharmacological options include cognitive behavioral therapy, enhanced external counterpulsation, neurostimulation, and stellate ganglionectomy. Studies have shown the efficacy of individual treatments but guidelines outlining the best course of therapy are lacking. PMID:25091971

  13. Tourette Syndrome: Update.

    PubMed

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  14. [New epileptic syndromes].

    PubMed

    Serratosa, J M

    1999-05-01

    The recent and increasing interest for previously undescribed forms of epilepsy has been due to the description of families in which several affected members presented specific forms of epilepsy. Most epilepsies representing the description of new epilepsy phenotypes are partial epilepsies, although a new form of generalized epilepsy (generalized epilepsy with febrile seizures plus or GEFS+) has also been described. Our understanding of the clinical and genetic characteristics of the new familial epilepsy syndromes and the identification of informative families should accelerate the discovery of the basic mechanisms implicated in the production of partial seizures. The recent description of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy, its localization to chromosome 20, the identification of the responsible gene (the alpha 4 subunit of the nicotinic cholinergic receptor) and the characterization of a mutation in two families are a good example. The recognition of the new epilepsy syndromes is of great interest for clinical neurologists and should lead to the establishment of more precise prognoses and therapies. In those families with several affected members, genetic knowledge may be important for genetic counseling purposes. PMID:10379163

  15. Alagille syndrome.

    PubMed Central

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

  16. Hyperventilation and exhaustion syndrome

    PubMed Central

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification – F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called ‘Grounding’, a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients’ average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = ?3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = ?0.514, p < 0.01), pain (r = ?.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = ?0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R2 = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. PMID:24134551

  17. Tics and Tourette Syndrome

    MedlinePLUS

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  18. What Are Myelodysplastic Syndromes?

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  19. Myelodysplastic Syndromes (MDS)

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  20. Tethered Spinal Cord Syndrome

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