[Foetal therapy for Down syndrome: a pro-active ethical reflection].

PubMed

de Wert, G M W R; Dondorp, W J

2016-01-01

Prenatal screening for Down syndrome has to date focused on facilitating the informed choice to continue or not with a pregnancy. The non-invasive prenatal test (NIPT) for Down syndrome does potentially offer the option to apply foetal neurocognitive therapy for Down syndrome (FTDS). Current research in animal models looks promising and therefore a proactive ethical reflection in relation to clinical trials is urgently needed. This discussion includes an exploration of the ethical aspects of FTDS. There seem to be no convincing a priori objections on the basis of the social model of disability. Arguments in terms of (respect for) autonomy, wellbeing and justice seem to in principle support such therapy. Still, both the conditions for sound clinical trials and the implications of possible effective therapy for current prenatal screening need further scrutiny.

Role of Alternative Therapies for Chronic Pain Syndromes.

PubMed

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

2016-05-01

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

[Successful electroconvulsive therapy of Cotard syndrome with bitemporal hypoperfusion].

PubMed

Lohmann, T; Nishimura, K; Sabri, O; Klosterkötter, J

1996-05-01

A case study is presented to illustrate a rare condition described by Cotard as "délire de négation". The central symptom is a nihilistic delusion with denial of one's own existence of oneself and that of the external world. In the present case, the syndrome became manifest as an escalation of a recurrent depressive disorder late in life. After initial resistance to therapy, the syndrome was successfully treated with electroconvulsive therapy. For the first time, we report the regional cerebral blood flow measured by 99mTc-HMPAO-SPECT before and after therapy. Before treatment, significant bitemporal hypoperfusion relative to the cerebellum was found, which was no longer demonstrable on remission.

Duration of dual antiplatelet therapy in acute coronary syndrome.

PubMed

Wilson, Simon John; Newby, David E; Dawson, Dana; Irving, John; Berry, Colin

2017-04-01

Despite a large volume of evidence supporting the use of dual antiplatelet therapy in patients with acute coronary syndrome, there remains major uncertainty regarding the optimal duration of therapy. Clinical trials have varied markedly in the duration of therapy, both across and within trials. Recent systematic reviews and meta-analyses suggest that shorter durations of dual antiplatelet therapy are superior because the avoidance of atherothrombotic events is counterbalanced by the greater risks of excess major bleeding with apparent increases in all-cause mortality with longer durations. These findings did not show significant heterogeneity according to whether patients had stable or unstable coronary heart disease. Moreover, the potential hazards and benefits may differ when applied to the general broad population of patients encountered in everyday clinical practice who have markedly higher bleeding and atherothrombotic event rates. Clinicians lack definitive information regarding the duration of therapy in patients with acute coronary syndrome and risk scores do not appear to be sufficiently robust to address these concerns. We believe that there is a pressing need to undertake a broad inclusive safety trial of shorter durations of therapy in real world populations of patients with acute coronary syndrome. The clinical evidence would further inform future research into strategies for personalised medicine. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Back to the future: therapies for idiopathic nephrotic syndrome.

PubMed

Gibson, Keisha L; Glenn, Dorey; Ferris, Maria E

2015-01-01

Roughly 20-40% of individuals with idiopathic nephrotic syndrome will fail to respond to standard therapies and have a high risk of progression to end stage kidney disease (ESKD). In the last 50 years, no new therapies have been approved specifically for the treatment of these individuals with recalcitrant disease. Recent in vitro, translational, and clinical studies have identified novel targets and pathways that not only expand our understanding of the complex pathophysiology of proteinuric disease but also provide an opportunity to challenge the tradition of relying on histologic classification of nephrotic diseases to make treatment decisions. The traditional methods of directing the care of individuals with nephrotic syndrome by histological classification or deciding second line therapies on the basis of steroid-responsiveness may soon yield customizing therapies based on our expanding understanding of molecular targets. Important non-immunologic mechanisms of widely used immunosuppressive therapies may be just as important in palliating proteinuric disease as proposed immunologic functions. © 2015 S. Karger AG, Basel.

Churg-Strauss syndrome associated with montelukast therapy

PubMed Central

Tuggey, J; Hosker, H

2000-01-01

Churg-Strauss syndrome is a rare form of eosinophilic vasculitis associated with asthma. There have been several recent case reports of the condition in association with leukotriene antagonists and it has been speculated that the Churg-Strauss syndrome was unmasked when oral corticosteroids were withdrawn. We report a case of Churg-Strauss syndrome associated with montelukast therapy in an asthmatic patient in whom there had been no recent oral corticosteroid use. We believe that this is the first such reported case and would suggest that clinicians need to be vigilant in all patients who develop systemic symptoms when starting treatment with leukotriene antagonists.

 PMID:10950903

Pediatric Multiple Organ Dysfunction Syndrome: Promising Therapies

PubMed Central

Doctor, Allan; Zimmerman, Jerry; Agus, Michael; Rajasekaran, Surender; Wardenburg, Juliane Bubeck; Fortenberry, James; Zajicek, Anne; Typpo, Katri

2016-01-01

Objective To describe the state of the science, identify knowledge gaps, and offer potential future research questions regarding promising therapies for children with multiple organ dysfunction syndrome (MODS) presented during the Eunice Kennedy Shriver National Institute of Child Health and Human Development Workshop on Pediatric Multiple Organ Dysfunction Syndrome (March 26-27, 2015). Data Sources Literature review, research data, and expert opinion. Study Selection Not applicable. Data Extraction Moderated by an expert from the field, issues relevant to the association of MODS with a variety of conditions were presented, discussed and debated with a focus on identifying knowledge gaps and research priorities. Data Synthesis Summary of presentations and discussion supported and supplemented by relevant literature. Conclusions Among critically ill children, MODS is relatively common and associated with significant morbidity and mortality. For outcomes to improve, effective therapies aimed at preventing and treating this condition must be discovered and rigorously evaluated. In this manuscript, a number of potential opportunities to enhance current care are highlighted including the need for a better understanding of the pharmacokinetics and pharmacodynamics of medications, the effect of early and optimized nutrition, and the impact of effective glucose control in the setting of MODS. Additionally, a handful of the promising therapies either currently being implemented or developed are described. These include extracorporeal therapies, anti-cytokine therapies, anti-toxin treatments, anti-oxidant approaches and multiple forms of exogenous steroids. For the field to advance, these and other therapies must be assessed in rigorous manner and implemented accordingly. PMID:28248836

Effectiveness of Manual Therapy Combined With Physical Therapy in Treatment of Patellofemoral Pain Syndrome: Systematic Review.

PubMed

Espí-López, Gemma Victoria; Arnal-Gómez, Anna; Balasch-Bernat, Mercè; Inglés, Marta

2017-06-01

The purpose of this study was to conduct a review of randomized controlled trials (RCTs) to determine the treatment effectiveness of the combination of manual therapy (MT) with other physical therapy techniques. Systematic searches of scientific literature were undertaken on PubMed and the Cochrane Library (2004-2014). The following terms were used: "patellofemoral pain syndrome," "physical therapy," "manual therapy," and "manipulation." RCTs that studied adults diagnosed with patellofemoral pain syndrome (PFPS) treated by MT and physical therapy approaches were included. The quality of the studies was assessed by the Jadad Scale. Five RCTs with an acceptable methodological quality (Jadad ≥ 3) were selected. The studies indicated that MT combined with physical therapy has some effect on reducing pain and improving function in PFPS, especially when applied on the full kinetic chain and when strengthening hip and knee muscles. The different combinations of MT and physical therapy programs analyzed in this review suggest that giving more emphasis to proximal stabilization and full kinetic chain treatments in PFPS will help better alleviation of symptoms.

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

ERIC Educational Resources Information Center

Pruess, James B.; And Others

1989-01-01

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

[Alternative and complementary therapies in fibromyalgia syndrome].

PubMed

Langhorst, J; Häuser, W; Irnich, D; Speeck, N; Felde, E; Winkelmann, A; Lucius, H; Michalsen, A; Musial, F

2008-06-01

Interdisciplinary S3 level guidelines were devised in cooperation with 8 medical, 2 psychological and 2 patient support groups. Results were elaborated in a multilevel group process. On the bases of the "Cochrane Library" (1993-2006), "Medline" (1980-2006), "PsychInfo" (2006) and "Scopus" (2006) controlled studies and meta-analyses of controlled studies were analyzed. Only few controlled studies were found supporting in part the effectiveness of CAM therapies in the treatment of fibromyalgia syndrome. Due to the lack of information on long term efficacy and cost-effectiveness, only limited recommendations for CAM therapies can be given. Within a multicomponent therapy setting, selective CAM therapies (acupuncture, vegetarian diet, homeopathy, Tai Chi, Qi Gong, music-oriented and body-oriented therapies) can be recommended for a limited period of time.

Low-power laser therapy for carpal tunnel syndrome: effective optical power

PubMed Central

Chen, Yan; Zhao, Cheng-qiang; Ye, Gang; Liu, Can-dong; Xu, Wen-dong

2016-01-01

Low-power laser therapy has been used for the non-surgical treatment of mild to moderate carpal tunnel syndrome, although its efficacy has been a long-standing controversy. The laser parameters in low-power laser therapy are closely related to the laser effect on human tissue. To evaluate the efficacy of low-power laser therapy, laser parameters should be accurately measured and controlled, which has been ignored in previous clinical trials. Here, we report the measurement of the effective optical power of low-power laser therapy for carpal tunnel syndrome. By monitoring the backside reflection and scattering laser power from human skin at the wrist, the effective laser power can be inferred. Using clinical measurements from 30 cases, we found that the effective laser power differed significantly among cases, with the measured laser reflection coefficient ranging from 1.8% to 54%. The reflection coefficient for 36.7% of these 30 cases was in the range of 10–20%, but for 16.7% of cases, it was higher than 40%. Consequently, monitoring the effective optical power during laser irradiation is necessary for the laser therapy of carpal tunnel syndrome. PMID:27630706

Cytokine Release Syndrome After Chimeric Antigen Receptor T Cell Therapy for Acute Lymphoblastic Leukemia.

PubMed

Fitzgerald, Julie C; Weiss, Scott L; Maude, Shannon L; Barrett, David M; Lacey, Simon F; Melenhorst, J Joseph; Shaw, Pamela; Berg, Robert A; June, Carl H; Porter, David L; Frey, Noelle V; Grupp, Stephan A; Teachey, David T

2017-02-01

Initial success with chimeric antigen receptor-modified T cell therapy for relapsed/refractory acute lymphoblastic leukemia is leading to expanded use through multicenter trials. Cytokine release syndrome, the most severe toxicity, presents a novel critical illness syndrome with limited data regarding diagnosis, prognosis, and therapy. We sought to characterize the timing, severity, and intensive care management of cytokine release syndrome after chimeric antigen receptor-modified T cell therapy. Retrospective cohort study. Academic children's hospital. Thirty-nine subjects with relapsed/refractory acute lymphoblastic leukemia treated with chimeric antigen receptor-modified T cell therapy on a phase I/IIa clinical trial (ClinicalTrials.gov number NCT01626495). All subjects received chimeric antigen receptor-modified T cell therapy. Thirteen subjects with cardiovascular dysfunction were treated with the interleukin-6 receptor antibody tocilizumab. Eighteen subjects (46%) developed grade 3-4 cytokine release syndrome, with prolonged fever (median, 6.5 d), hyperferritinemia (median peak ferritin, 60,214 ng/mL), and organ dysfunction. Fourteen (36%) developed cardiovascular dysfunction treated with vasoactive infusions a median of 5 days after T cell therapy. Six (15%) developed acute respiratory failure treated with invasive mechanical ventilation a median of 6 days after T cell therapy; five met criteria for acute respiratory distress syndrome. Encephalopathy, hepatic, and renal dysfunction manifested later than cardiovascular and respiratory dysfunction. Subjects had a median of 15 organ dysfunction days (interquartile range, 8-20). Treatment with tocilizumab in 13 subjects resulted in rapid defervescence (median, 4 hr) and clinical improvement. Grade 3-4 cytokine release syndrome occurred in 46% of patients following T cell therapy for relapsed/refractory acute lymphoblastic leukemia. Clinicians should be aware of expanding use of this breakthrough therapy and

The therapy of Sjogren's syndrome: a review.

PubMed

Coaccioli, S; Giuliani, M; Puxeddu, A

2007-01-01

The Sjogren's syndrome (SS) is an chronic inflammatory autoimmune disease of the exocrine glands as well as of internal apparatus. The therapy of exocrinopathy is represented by parasympathomimetic drugs such as pilocarpine and cevimeline. The therapy of systemic manifestations, actually is represented by the inhibitors of TNF alfa, as well as leflunomide, methotrexate and cyclosporine-A, but the results are quite insufficient and disappointed. In order to the involvement of B-cell function in the pathogenesis of SS, one of the most important option in the future should be specific inhibitors of that cells.

Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

PubMed

Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

2016-12-01

Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Metabolic syndrome among individuals with heroin use disorders on methadone therapy: Prevalence, characteristics, and related factors.

PubMed

Vallecillo, Gabriel; Robles, María José; Torrens, Marta; Samos, Pilar; Roquer, Albert; Martires, Paula K; Sanvisens, Arantza; Muga, Roberto; Pedro-Botet, Juan

2018-01-02

Observational studies have reported a high prevalence of obesity and diabetes in subjects on methadone therapy; there are, however, limited data about metabolic syndrome. The aim of the study was to evaluate the prevalence of metabolic syndrome and related factors in individuals with heroin use disorder on methadone therapy. A cross-sectional study in individuals with heroin use disorder on methadone therapy at a drug abuse outpatient center. Medical examinations and laboratory analyses after a 12-hour overnight fast were recorded. Metabolic syndrome was diagnosed according to the National Cholesterol Education Program Adult Treatment Panel III (ATP III) criteria. One hundred and twenty-two subjects were included, with a mean age of 46.1 ± 9 years, a median body mass index (BMI) of 25.3 kg/m 2 (interquartile range [IQR]: 21.2-28), and 77.9% were men. Median exposure to methadone therapy was 13 years (IQR: 5-20). Overweight and obesity were present in 29.5% and 17.2% of the participants, respectively. Metabolic syndrome components were low high-density lipoprotein (HDL) cholesterol (51.6%), hypertriglyceridemia (36.8%), high blood pressure (36.8%), abdominal obesity (27.0%), and raised blood glucose levels (18.0%). Abdominal obesity was more prevalent in women (52% vs. 20%, P = >0.01) and high blood pressure more prevalent in men (41.1% vs. 22.2%, P = .07). Prevalence of metabolic syndrome was 29.5% (95% confidence interval [CI]: 16.6-31.8). In the multivariate logistic regression analysis, BMI (per 1 kg/m 2 increase odds ratio [OR]: 1.49, 95% CI: 1.27-1.76) and exposure time to methadone therapy (per 5 years of treatment increase OR: 1.38, 95% CI: 1.28-1.48) were associated with metabolic syndrome. Overweight and metabolic syndrome are prevalent findings in individuals with heroin use disorder on methadone therapy. Of specific concern is the association of methadone exposure with metabolic syndrome. Preventive measures and clinical routine screening should be

Mirror syndrome after fetoscopic laser therapy for twin-twin transfusion syndrome due to transient donor hydrops that resolved before delivery. A case report.

PubMed

Chang, Yao-Lung; Chao, An-Shine; Chang, Shuenn-Dyh; Wang, Chao-Nin

2014-01-01

Mirror syndrome is a rare complication of twin-twin transfusion syndrome (TTTS). Its clinical picture includes massive edema, oliguria, and hemodilution in the context of fetal hydrops. The occurrence of mirror syndrome after fetoscopic laser therapy for TTTS has been well documented, but resolution of mirror syndrome before delivery has not been reported in the literature. A 33-year-old woman was referred to our institution at 23(6)/7 weeks' gestation for TTTS, which had been treated with amnioreduction twice: at 21 and 22 gestational weeks, respectively. Mirror syndrome was diagnosed after fetoscopic laser therapy for TTTS at 24 weeks' gestation due to maternal manifestations of pulmonary edema, skin edema, anemia, low blood protein concentration and proteinuria accompanied by donor hydrops. The maternal respiratory symptoms then gradually abated in <2 weeks along with improved fetal condition, resulting in a delivery with favorable outcomes at 36 weeks' gestation. Manifestation of mirror syndrome after fetoscopic laser therapy in twin-twin transfusion due to donor hydrops doesn't necessarily predict a poor perinatal outcome.

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;…

Cost-effectiveness analysis of personalized antiplatelet therapy in patients with acute coronary syndrome.

PubMed

Jiang, Minghuan; You, Joyce Hs

2016-05-01

This study aimed to compare the clinical and economic outcomes of pharmacogenetic-guided (PG-guided) and platelet reactivity testing-guided antiplatelet therapy for patients with acute coronary syndrome undergoing percutaneous coronary intervention. A decision-analytic model was simulated including four antiplatelet strategies: universal clopidogrel 75 mg daily, universal alternative P2Y12 inhibitor (prasugrel or ticagrelor), PG-guided therapy, and platelet reactivity testing-guided therapy. PG-guided therapy was the preferred option with lowest cost (US$75,208) and highest quality-adjusted life years gained (7.6249 quality-adjusted life years). The base-case results were robust in sensitivity analysis. PG-guided antiplatelet therapy showed the highest probability to be preferred antiplatelet strategy for acute coronary syndrome patients with percutaneous coronary intervention.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Katayama, Norihisa; Sato, Shuhei; Katsui, Kuniaki

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

Catatonic syndrome: From detection to therapy.

PubMed

Madigand, J; Lebain, P; Callery, G; Dollfus, S

2016-08-01

Catatonia is a psychomotor syndrome which can include motor, mental, behavioral and vegetative symptoms. Exclusively associated with schizophrenia until the 1970s, catatonia still remains an under-diagnosed syndrome with significant morbidity and mortality. As a result of its different forms and developments, catatonic syndrome can be associated with many organic and psychiatric etiologies and confused with a variety of diagnoses. In addition to its organic complications, malignant catatonia can also be extremely severe. Several diagnostic scales are described, those of Bush and Peralta being the most widely used. Despite the recent development of the DSM-5, we can regret the lack of progress in the international classifications concerning both the recognition of the etiological diversity of this syndrome and in the clinical and therapeutic approaches to it. The diagnosis is based solely on clinical data, and needs to be completed by information from paraclinical settings, particularly with respect to detecting organic etiology. The first-line treatment is still based on the use of certain benzodiazepines or benzodiazepine-like agents such as lorazepam, diazepam and zolpidem. If the first or second line fails, or in case of malignant catatonia, electroconvulsive therapy is recommended. For the periodic form, no large-sample study has been performed on long-term treatment. A few case reports suggest the use of lithium in periodic catatonia, specifically to prevent recurrent episodes or at least to extend the inter-episode intervals. Other studies are in favor of the use of benzodiazepines, with disagreement between gradual discontinuation and long-term treatment. Concerning the management of catatonia in patients with schizophrenia, for whom first-line benzodiazepines are often insufficient, certain atypical antipsychotics such as clozapine or quetiapine appear efficient. These data are also applicable to children and adolescents. Often neglected by practitioners

[Clinical application of moving cupping therapy based on skin reaction observation and syndrome differentiation].

PubMed

Deng, Xiao-Lan; Chen, Bo; Chen, Ze-Lin

2014-12-01

The diagnostic evidence on clinical diseases and theoretic basis of moving cupping therapy were ex- plored in the paper. By the observation of the local reaction, such as skin appearance and color, the affected location, duration of sickness and nature of disease were judged. Different moving cupping methods were selected for different disorders. It was discovered that the property of syndromes should be recognized by the palpation on skin and muscle in the moving cupping therapy so that the pathogenesis and treating principle could be carefully determined. The moving cupping therapy is the important component of body surface therapy. Skin reaction observation and syndrome differentiation is the essential guidance of the moving cupping therapy.

Sick sinus syndrome as a complication of mediastinal radiation therapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

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

1990-06-01

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

Subacromial impingement syndrome--effectiveness of physiotherapy and manual therapy.

PubMed

Gebremariam, Lukas; Hay, Elaine M; van der Sande, Renske; Rinkel, Willem D; Koes, Bart W; Huisstede, Bionka M A

2014-08-01

The subacromial impingement syndrome (SIS) includes the rotator cuff syndrome, tendonitis and bursitis of the shoulder. Treatment includes surgical and non-surgical modalities. Non-surgical treatment is used to reduce pain, to decrease the subacromial inflammation, to heal the compromised rotator cuff and to restore satisfactory function of the shoulder. To select the most appropriate non-surgical intervention and to identify gaps in scientific knowledge, we explored the effectiveness of the interventions used, concentrating on the effectiveness of physiotherapy and manual therapy. The Cochrane Library, PubMed, EMBASE, PEDro and CINAHL were searched for relevant systematic reviews and randomised clinical trials (RCTs). Two reviewers independently extracted data and assessed the methodological quality. A best-evidence synthesis was used to summarise the results. Two reviews and 10 RCTs were included. One RCT studied manual therapy as an add-on therapy to self-training. All other studies studied the effect of physiotherapy: effectiveness of exercise therapy, mobilisation as an add-on therapy to exercises, ultrasound, laser and pulsed electromagnetic field. Moderate evidence was found for the effectiveness of hyperthermia compared to exercise therapy or ultrasound in the short term. Hyperthermia and exercise therapy were more effective in comparison to controls or placebo in the short term (moderate evidence). For the effectiveness of hyperthermia, no midterm or long-term results were studied. In the midterm, exercise therapy gave the best results (moderate evidence) compared to placebo or controls. For other interventions, conflicting, limited or no evidence was found. Some physiotherapeutic treatments seem to be promising (moderate evidence) to treat SIS, but more research is needed before firm conclusions can be drawn. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome.

PubMed

Welch, Thomas R; Shaffer, David R; Feldman, Darren R

2017-01-01

A 30-year-old man with severe antenatal Bartter syndrome, diagnosed and treated in infancy, developed testicular carcinoma. Despite the known renal complications of cisplatin, this drug was used for his chemotherapy because of its superior antineoplastic effect. Nonsteroidal anti-inflammatory drug administration was continued during cisplatin therapy. Despite an increase in his oral potassium requirement, renal function was maintained following completion of chemotherapy. In spite of its significant associated nephrotoxicity, cisplatin can be used in patients with severe antenatal Bartter syndrome if required for therapy of malignancy.

Mesenchymal Stem Cell Therapy for Acute Radiation Syndrome: Innovative Medical Approaches in Military Medicine

DTIC Science & Technology

2015-01-30

mesenchymal stem cells . Cytokine Growth Factor Rev. 2009;20:419–27. 8. Wang L, Li Y, Chen X, Chen J, Gautam SC, Xu Y, et al. MCP...Literature 3. DATES COVERED (From - To) 4. TITLE AND SUBTITLE Mesenchymal stem cell therapy for acute radiation syndrome: innovative medical...Independent Research Program 14. ABSTRACT See reprint. 15. SUBJECT TERMS Acute radiation syndrome, Mesenchymal stem cell , cell therapy,

Identifying risk factors of immune reconstitution inflammatory syndrome in AIDS patients receiving highly active anti-retroviral therapy.

PubMed

He, Bo; Zheng, Yuhuang; Liu, Meng; Zhou, Guoqiang; Chen, Xia; Mamadou, Diallo; He, Yan; Zhou, Huaying; Chen, Zi

2013-01-01

Immune reconstitution inflammation syndrome typically occurs within days after patients undergo highly active anti-retroviral therapy and is a big hurdle for effective treatment of AIDS patients. In this study, we monitored immune reconstitution inflammation syndrome occurrence in 238 AIDS patients treated with highly active anti-retroviral therapy. Among them, immune reconstitution inflammation syndrome occurred in 47 cases (19.7%). Immune reconstitution inflammation syndrome patients had significantly higher rate of opportunistic infection (p<0.001) and persistently lower CD4(+) cell count (p<0.001) compared to the non-immune reconstitution inflammation syndrome patients. In contrast, no significant differences in HIV RNA loads were observed between the immune reconstitution inflammation syndrome group and non-immune reconstitution inflammation syndrome group. These data suggest that a history of opportunistic infection and CD4(+) cell counts at baseline may function as risk factors for immune reconstitution inflammation syndrome occurrence in AIDS patients as well as potential prognostic markers. These findings will improve the management of AIDS with highly active anti-retroviral therapy. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

PubMed

Hidalgo, Eveline Teresa; Orillac, Cordelia; Hersh, Andrew; Harter, David H; Rizzo, William B; Weiner, Howard L

2017-01-01

Intrathecal baclofen therapy is widely accepted as a treatment option for patients with severe spasticity. The current treatment of spasticity in patients with Sjögren-Larsson syndrome is largely symptomatic, given that no effective causal therapy treatments are available. We report the outcome of 2 patients with Sjögren-Larsson syndrome who had pump implantation for intrathecal baclofen. We observed a positive response, with a decrease of spasticity, reflecting in the Modified Ashworth Scale, and parents and caregivers observed a functional improvement in both patients. One patient experienced skin irritation 15 months after surgery, necessitating pump repositioning. No infection occurred. Our report shows that intrathecal baclofen therapy can have a positive therapeutic effect on spasticity in patients with Sjögren-Larsson syndrome, and therefore may be a promising addition to current treatments.

[Effect of anti-inflammatory therapy on the treatment of dry eye syndrome].

PubMed

Mrukwa-Kominek, Ewa; Rogowska-Godela, Anna; Gierek-Ciaciura, Stanisława

2007-01-01

Dry eye syndrome is a common chronic disease; agents and strategies for its effective management are still lacking. The syndrome tends to be accompanied by ocular surface inflammation; therefore, the use of anti-inflammatory agents might prove beneficial. The authors present up-to-date guidelines, strategies, and efficacy of dry eye syndrome management, including anti-inflammatory treatment. As no diagnostic tests are now available to assess ocular surface inflammation severity, the right timing to launch an anti-inflammatory agent is difficult to determine. Patients with mild intermittent bouts of symptoms which can be alleviated with ophthalmic lubricants do not typically require anti-inflammatory therapy. The latter should be considered in those who do not respond to lubricating drops, obtain poor results on clinical tests, and show symptoms of ocular surface irritation (eg. conjunctivae redness). Anti-inflammatory treatment of dry eye syndrome may include short-term corticosteroids, cyclosporine A emulsion, oral tetracycline therapy, oral omega-3 fatty acid supplements, and autologous serum eye drops. Anti-inflammatory treatment should be safe and effective; potential benefits should be evaluated for each individual patient. The authors have reviewed the advantages of anti-inflammatory treatment in dry eye syndrome, presented in literature.

Cervical syndrome - the effectiveness of physical therapy interventions.

PubMed

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

2013-12-01

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. 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. 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. 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

Rehabilitative therapy of short bowel syndrome: experimental study and clinical trial.

PubMed

Li, N; Zhu, W; Guo, F; Ren, J; Li, Y; Wang, X; Li, J

2000-08-01

To investigate the effect of growth hormone on proliferative activity of the residual small intestinal mucosa after massive small intestinal resection and to evaluate the clinical efficacy of bowel rehabilitative therapy for short bowel syndrome. Small intestinal mucosa proliferative activity were compared in rats from control group (sham operation), short bowel group (80% small bowel resection) and growth hormone treatment group (80% small bowel resection + growth hormone 1 U x kg(-1) x d(-1) for 28 days) with the aid of histology image analysis, flow cytometric assay, immunohistochemistry analysis and RT-PCR assay. The nutritional status, D-xylose absorption and stool nitrogen output were observed in 9 consecutive parenteral nutrition dependent patients with short bowel syndrome after intestinal rehabilitative therapy (growth hormone 8 - 12 U x kg(-1) x d(-1) im + glutamine 0.6 g x kg(-1) x d(-1) iv + special diet) for 21 continuous days. Growth hormone administration significantly increased rat small intestinal mucosal villous height, mucosal thickness, proliferative index, and the expression of proliferating cell nuclear antigen and c-jun mRNA. Rehabilitative therapy increased the body weight, serum total protein and album in concentrations in patients. Their D-xylose absorption indices increased and fecal nitrogen losses decreased. Follow-up data showed that 6 of the 9 patients sustained on enteral nutrition. Growth hormone enhances the proliferative activity of the mucosal epithelium and bowel rehabilitative therapy may benefit the patients with short bowel syndrome.

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

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

DOEpatents

Smith, Desmond J.; Rubin, Edward M.

2000-01-01

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

Results of steroid-based therapy for the hepatitis C-autoimmune hepatitis overlap syndrome.

PubMed

Schiano, T D; Te, H S; Thomas, R M; Hussain, H; Bond, K; Black, M

2001-10-01

Overlap syndromes in which persons manifest clinical, histological, or immunological features of both hepatitis C infection and autoimmune hepatitis are well described. The discordant forms of treatment for hepatitis C and autoimmune hepatitis have made medical management of these patients difficult. We report our experience in using corticosteroids as first line therapy for the hepatitis C-autoimmune hepatitis overlap syndrome. Seven patients with this overlap syndrome (diagnosis based on the presence of serum hepatitis C antibody by RIBA and serum hepatitis C RNA by polymerase chain reaction, and serum hypergammaglobulinemia, elevated ANA or ASMA titers, or histological findings consistent with autoimmune hepatitis) were treated with prednisone with or without azathioprine or cyclosporine, and followed for a median duration of 44.5 months. Five patients (71%) showed improvement of median serum ALT level from 162 U/L to 38 U/L (p = 0.04) and median serum gamma-globulin from 2.1 g/dl to 1.4 g/dl (p = 0.04) by 6 months of therapy. The mean modified histological activity index score also decreased from 11.4 +/- 2.5 to 6.6 +/- 2.6 (p = 0.04) by at least 1 yr of therapy. One patient discontinued prednisone while taking azathioprine and experienced a rebound elevation of serum ALT that did not respond to retreatment with prednisone. Antiviral therapy was subsequently administered and resulted in biochemical and virologic response. Hepatitis C virus RNA remained detectable in all other patients. Corticosteroids are beneficial as a first line therapy for some patients with the hepatitis C-autoimmune overlap syndrome, resulting in appreciable biochemical and histological response but without viral eradication.

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…

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

PubMed

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

2014-03-01

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

Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

PubMed

Sheanon, Nicole M; Backeljauw, Philippe F

2015-01-01

Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

Growth Hormone Therapy in Adults with Prader-Willi Syndrome.

PubMed

Vogt, Karen S; Emerick, Jill E

2015-04-16

Prader-Willi syndrome (PWS) is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to improvements in linear growth, the benefits of growth hormone therapy on body composition and motor function in children with PWS are well established. Evidence is now emerging on the benefits of growth hormone therapy in adults with PWS. This review summarizes the current literature on growth hormone status and the use of growth hormone therapy in adults with PWS. The benefits of growth hormone therapy on body composition, muscle strength, exercise capacity, certain measures of sleep-disordered breathing, metabolic parameters, quality of life, and cognition are covered in detail along with potential adverse effects and guidelines for initiating and monitoring therapy.

Behavior Therapy for Tourette Syndrome: A Systematic Review and Meta-analysis.

PubMed

Wile, Daryl J; Pringsheim, Tamara M

2013-08-01

When tics caused by Tourette Syndrome cause meaningful impairment for patients, a comprehensive treatment approach includes education of patients, peers, and family, treatment of comorbid behavioral disorders if present, and consideration of behavior therapy and pharmacotherapy for tics themselves. This systematic review and meta-analysis demonstrates that behavior therapies based on Habit Reversal Therapy, including the Comprehensive Behavioral Intervention for Tics are effective in reducing tic severity when compared with supportive psychotherapy. When these behavior therapies are unavailable, Exposure with Response Prevention may also be effective. Both face-to-face and telehealth delivery methods for behavior therapy improve tic severity, and broader distribution of behavior therapy through increased training or telehealth methods is encouraged. High-quality randomized trials comparing behavior therapies for tics with pharmacotherapy are needed.

[On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

PubMed

Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

2006-05-01

To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

[Correction of hypersplenism syndrome in liver cirrhosis patients during the use of magneto-infrared laser therapy (MIAT)].

PubMed

Nedogoda, V V; Skvortsova, Z S; Skvortsov, V V

2002-01-01

The clinical observation of the liver cirrhosis patients who has got the magnetoinfraredlaser therapy (MILT) with an irradiation of lien projection is presented. It was shown the positive MILT effect on the pancytopenia syndrome. The use of magnetoinfraredlaser therapy in the patients with the hypersplenia syndrome is recommended.

[Professor WU Zhongchao's experience in the treatment of bi syndrome with fire needling therapy at lower he-sea points].

PubMed

Zhou, Yu; Chen, Zhongjie; Liu, Chun; Wang, Bing; Zhang, Ning; Li, Caifen; Xie, Qian

2016-07-12

Bi syndrome is classified into five categories. Based on the syndrome differentiation of meridians and collaterals and zangfu theories, Professor WU Zhongchao proposed the fire needling therapy at the lower he -sea points for five types of bi syndromes. Professor WU stresses on the flexible application of fire needling therapy for bi syndrome at the lower he -sea points and innovated the unique five techniques of fire needling therapy, named lifting and threating needle of small amplitude at the lower he -sea points, the stimulation along the relevant meri-dians before fire needling, detecting the sensitive sites by gentle pressing the relevant lower he -sea points, combining the movement of affected upper limb or joint during fire needling, or combining with contralateral needling technique, and controlling the depth of fire needling based on the duration of sickness and depth of affected site. He pointed out that Shangjuxu (ST 37) is for skin bi syndrome, Zusanli (ST 36) for muscle bi syndrome, Yanglingquan (GB 34) for tendon bi syndrome, Weizhong (BL 40) for bone bi syndrome and Xiajuxu (ST 39) for vessel bi syndrome.

Apixaban with antiplatelet therapy after acute coronary syndrome.

PubMed

Alexander, John H; Lopes, Renato D; James, Stefan; Kilaru, Rakhi; He, Yaohua; Mohan, Puneet; Bhatt, Deepak L; Goodman, Shaun; Verheugt, Freek W; Flather, Marcus; Huber, Kurt; Liaw, Danny; Husted, Steen E; Lopez-Sendon, Jose; De Caterina, Raffaele; Jansky, Petr; Darius, Harald; Vinereanu, Dragos; Cornel, Jan H; Cools, Frank; Atar, Dan; Leiva-Pons, Jose Luis; Keltai, Matyas; Ogawa, Hisao; Pais, Prem; Parkhomenko, Alexander; Ruzyllo, Witold; Diaz, Rafael; White, Harvey; Ruda, Mikhail; Geraldes, Margarida; Lawrence, Jack; Harrington, Robert A; Wallentin, Lars

2011-08-25

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

Electroconvulsive therapy-induced Wolff-Parkinson-White syndrome: a case report.

PubMed

Enomoto, Shingo; Yoshino, Aihide; Takase, Bonpei; Kuwahara, Tatsuro; Tatsuzawa, Yasutaka; Nomura, Soichiro

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is characterized by premature ventricular excitation due to the presence of an abnormal accessory pathway. Electrocardiography (ECG) of patients with WPW syndrome portrays a short PR interval and a wide QRS interval with a delta wave. Herein, we report the case of a patient with schizophrenia who developed a wide QRS interval with a delta wave immediately following electroconvulsive therapy (ECT). Initially, the delta wave disappeared within 2 days after ECT. However, the duration of the delta wave increased exponentially to 4 months when ECT was repeated. Although the patient's cardiocirculatory dynamics remained normal, we continued to monitor her ECG until the delta wave disappeared because WPW syndrome can lead to serious arrhythmia. Copyright © 2013 Elsevier Inc. All rights reserved.

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…

Hyperbaric oxygen therapy as treatment for bilateral arm compartment syndrome after CrossFit: case report and literature review.

PubMed

Mendes, Adriano Fernando; Neto, José da Mota; Heringer, Erica Maciel; de Simoni, Leandro Furtado; Pires, Diego Demolinari; Labronici, Pedro José

2018-01-01

CrossFit is a physical fitness program characterized by high-intensity workouts that can be associated with serious injury. Acute compartment syndrome in the upper limbs is a rare occurrence. It may occur after intense physical exercise, and its usual treatment is surgical. Hyperbaric oxygen therapy is a treatment described as adjunctive in cases of compartmental syndrome. We describe the case of a CrossFit practitioner who, after intense training, developed progressive symptoms of rhabdomyolysis and acute bilateral arm compartment syndrome, who was successfully treated with hyperbaric oxygen therapy and required no fasciotomy as surgical treatment. Acute compartment syndrome in the arms after intense physical exercise is a rare occurrence that should be suspected by practitioners of physical activity experiencing intense, disproportionate and progressive pain. In the case presented, hyperbaric oxygen therapy was successfully used in the treatment of the disorder, with satisfactory progress, and without the need for a surgical fasciotomy as therapy. Copyright© Undersea and Hyperbaric Medical Society.

Maintenance electroconvulsive therapy for depression with catatonia in a young woman with Down syndrome.

PubMed

Torr, Jennifer; D'Abrera, Juan Carlos

2014-12-01

To describe and discuss the use of maintenance electroconvulsive therapy (ECT) in a young woman with Down syndrome and depression with catatonia. Clinical case report. A 23-year-old woman with Down syndrome (mosaic type) and a 4-year history of depressed mood triggered by adverse life events presented with mutism, psychomotor retardation, and compromised oral intake. Multiple trials of antidepressant medications were either ineffective or complicated by adverse reactions. She improved rapidly with a course of bilateral ECT but required maintenance ECT to sustain recovery. A series of premorbid, morbid, and post-treatment drawings by the young woman highlight the efficacy of treatment. Electroconvulsive therapy was found to be a safe and effective treatment for life-threatening mental illness in a young woman with Down syndrome who had failed multiple trials of antidepressant medications. This case highlights the importance of considering catatonia as a diagnosis in persons with Down syndrome and the effectiveness of electroconvulsive treatment.

Stevens-Johnson syndrome in a patient with rheumatoid arthritis during long-term etanercept therapy.

PubMed

Owczarczyk-Saczonek, Agnieszka; Zdanowska, Natalia; Znajewska-Pander, Aleksandra; Placek, Waldemar

2016-03-31

Etanercept and other anti-TNF-alpha agents have been indicated as a therapeutic option in severe drug reactions, including Stevens-Johnson syndrome and toxic epidermal necrolysis. Etanercept has been shown to quickly reduce the detachment of the epidermis and shorten healing time. Cases of etanercept-induced severe adverse drug reactions were also described. A 27-year-old woman with a 4-year history of etanercept and sulfasalazine treatment for rheumatoid arthritis was admitted with Stevens-Johnson syndrome. The patient received one dose of an OTC drug containing acetaminophen, phenylephrine and pheniramine two days prior to developing fist mucocutaneous symptoms. The most probable causative agent was paracetamol. Throughout the successful routine therapy of Stevens-Johnson syndrome etanercept therapy was continued. Sulfosalazin administration was stopped and administered again after recovery with no recurrence of the skin and mucosal symptoms. This case indicates that there is no justification for discontinuation of long-term anti-TNF-alpha treatment in patients who develop Stevens- Johnson syndrome / toxic epidermal necrolysis.

Fetal Therapy for Down Syndrome: Report of Three Cases and a Review of the Literature.

PubMed

Baggot, Patrick James; Baggot, Rocel Medina

2017-01-01

Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To our knowledge, these are the first published cases of fetal therapy for Down syndrome. Reports of three cases. In all cases, treatment was both biochemical (e.g. nutritional) and educational. In all cases, treatment was both before and after birth. All children lacked the characteristic faces usually seen in the children with Down syndrome. This suggests a treatment effect before birth. All children had better than expected development. Enhancement of development is proposed as a new therapeutic principle. Developing neurons exchange neurotrophic factors during development when they give or receive stimulation from other neurons. Neurons which receive neurotrophic stimulation survive, and those, which do not, are lost to apoptosis. The developmental therapeutic principle seeks to optimize brain development. Biochemical inputs (neurotransmitters, drugs, hormones, nutrients) and functional stimulation are integrated to optimize the growth and survival of neurons individually; other cells; subcellular organelles; and the brain as a whole. Treatment may be before and after birth, both biochemical and functional. These principles may be applied to Down syndrome, other conditions, and normal fetuses or children. Baggot PJ and Baggot RM (2014). Fetal Therapy for Down Syndrome: Report of three cases and review of the literature. J Am Phys Surg 19(1):20-24.

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

PubMed

Ramírez, A; Abril, J C; Cano, J

2015-01-01

Osteoarticular infection in children frequently occurs before 10 years of age. Surgical drainage is sometimes required, whereas acute osteomyelitis can be treated with antibiotic therapy alone. The duration of antibiotic therapy varies, 2 weeks is sufficient for septic arthritis, whereas 6 weeks is often required for complicated cases. Some of these antibiotic drugs present direct complications with low clinical impact in certain individuals. Hypersensitivity to these drugs causes different reactions in children. DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) is a severe and potentially life-threatening drug reaction. It is characterised by high fever, malaise, lymphadenopathy and skin rash. From a clinical perspective, these symptoms can lead to an exacerbation of the initial infectious process for which treatment was commenced. The liver is the organ most often affected in DRESS syndrome associated with haematological changes, potentially similar to sepsis. We present two cases of children with osteoarticular infections who developed DRESS syndrome after antibiotic therapy. Both patients made a complete recovery after cessation of the antibiotic drugs used. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

Growth hormone therapy for Prader–willi syndrome: challenges and solutions

PubMed Central

Grugni, Graziano; Sartorio, Alessandro; Crinò, Antonino

2016-01-01

Prader–Willi syndrome (PWS) is characterized by a dysregulation of growth hormone (GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic involvement. PWS’ clinical picture seems to resemble the classic non-PWS GH deficiency (GHD), including short stature, excessive body fat, decreased muscle mass, and impaired quality of life. GH therapy is able to ameliorate the phenotypic appearance of the syndrome, as well as to improve body composition, physical strength, and cognitive level. In this regard, however, some pathophysiologic and clinical questions still remain, representing a challenge to give the most appropriate care to PWS patients. Data about the prevalence of GHD in PWS children are not unequivocal, ranging from 40% to 100%. In this context, to establish whether the presence (or not) of GHD may have a different effect on clinical course during GH therapy may be helpful. In addition, the comparison of GH effects in PWS children diagnosed as small for gestational age with those obtained in subjects born appropriate for gestational age is of potential interest for future trials. Emerging information seems to demonstrate the maintenance of beneficial effects of GH therapy in PWS subjects after adolescent years. Thus, GH retesting after achievement of final height should be taken into consideration for all PWS patients. However, it is noteworthy that GH administration exerts positive effects both in PWS adults with and without GHD. Another critical issue is to clarify whether the genotype–phenotype correlations may be relevant to specific outcome measures related to GH therapy. Moreover, progress of our understanding of the role of GH replacement and concomitant therapies on bone characteristics of PWS is required. Finally, a long-term surveillance of benefits and risks of GH therapy is strongly recommended for PWS population, since most of the current studies are uncontrolled and of short duration. PMID:27330297

Growth hormone therapy for Prader-willi syndrome: challenges and solutions.

PubMed

Grugni, Graziano; Sartorio, Alessandro; Crinò, Antonino

2016-01-01

Prader-Willi syndrome (PWS) is characterized by a dysregulation of growth hormone (GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic involvement. PWS' clinical picture seems to resemble the classic non-PWS GH deficiency (GHD), including short stature, excessive body fat, decreased muscle mass, and impaired quality of life. GH therapy is able to ameliorate the phenotypic appearance of the syndrome, as well as to improve body composition, physical strength, and cognitive level. In this regard, however, some pathophysiologic and clinical questions still remain, representing a challenge to give the most appropriate care to PWS patients. Data about the prevalence of GHD in PWS children are not unequivocal, ranging from 40% to 100%. In this context, to establish whether the presence (or not) of GHD may have a different effect on clinical course during GH therapy may be helpful. In addition, the comparison of GH effects in PWS children diagnosed as small for gestational age with those obtained in subjects born appropriate for gestational age is of potential interest for future trials. Emerging information seems to demonstrate the maintenance of beneficial effects of GH therapy in PWS subjects after adolescent years. Thus, GH retesting after achievement of final height should be taken into consideration for all PWS patients. However, it is noteworthy that GH administration exerts positive effects both in PWS adults with and without GHD. Another critical issue is to clarify whether the genotype-phenotype correlations may be relevant to specific outcome measures related to GH therapy. Moreover, progress of our understanding of the role of GH replacement and concomitant therapies on bone characteristics of PWS is required. Finally, a long-term surveillance of benefits and risks of GH therapy is strongly recommended for PWS population, since most of the current studies are uncontrolled and of short duration.

Mesenchymal stromal cell-based therapies reduce obesity and metabolic syndromes induced by a high-fat diet.

PubMed

Lee, Chien-Wei; Hsiao, Wei-Ting; Lee, Oscar Kuang-Sheng

2017-04-01

Obesity is an alarming global health problem that results in multiaspect metabolic syndromes in both genders and most age groups. The lack of effective therapies for obesity and its associated metabolic syndrome is an urgent societal issue. To elucidate whether mesenchymal stromal cell (MSC)-based therapies can ameliorate high-fat diet-induced obesity and compare the effectiveness of several methodological approaches, we transplanted human MSCs, MSC-derived brown adipocytes (M-BA), and MSC lysateinto obese mice. All 3 MSC-based treatments improved obesity-associated metabolic syndromes including nonalcoholic fatty liver disease, nonalcoholic steatohepatitis, glucose intolerance, and inflammation in obese mice after repeated administration for 10 weeks. MSC-based treatments altered the ratio of adiponectin to leptin and regulated the expression of Pparα and Pparγ, which are involved in maintaining energy homeostasis, in major metabolic tissues. Among treatments, M-BA showed the strongest beneficial effect. Importantly, M-BA administration not only reduced obesity-associated metabolic syndromes but also reduced body weight and hyperlipidemia, indicating that it is an effective therapy for obesity. Together, our findings revealed the therapeutic potential of MSCs for the treatment of metabolic syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Cognitive behavioural therapy for reducing fatigue in post-polio syndrome and in facioscapulohumeral dystrophy: A comparison.

PubMed

Koopman, Fieke S; Brehm, Merel A; Beelen, Anita; Voet, Nicole; Bleijenberg, Gijs; Geurts, Alexander; Nollet, Frans

2017-07-07

Cognitive behavioural therapy does not reduce fatigue in post-polio syndrome, but is effective in facioscapulohumeral dystrophy. This difference in efficacy might be explained by a different role of cognitions in these conditions. To compare fatigue-related cognitions between patients with post-polio syndrome and facio-scapulohumeral dystrophy. Patients with post-polio syndrome (n = 21) and facioscapulohumeral dystrophy (n = 24) allocated to a cognitive behavioural therapy intervention in 2 identical trials. Assessed cognitions included: sense of control over fatigue; catastrophizing; acceptance; focusing on fatigue; and perceived social support. Group differences in cognitions (independent t-tests or Mann-Whitney U tests) and group differences in the association of cognitions with fatigue (linear regression models) were studied. No differences in cognitions were found between the 2 groups (p > 0.18). Furthermore, there were no cognition-by-group interaction effects, except for "perceived social support", for which a different association with fatigue was found between the 2 groups (p = 0.01). However, univariate models revealed no associations per group. Fatigue-related cognitions in severely fatigued patients with post-polio syndrome are not clearly different from that in facioscapulohumeral dystrophy. Thus, the lack of efficacy of cognitive behavioural therapy in post-polio syndrome cannot be attributed to unique cognitive characteristics of this population.

Fragile X syndrome: from molecular genetics to therapy.

PubMed

D'Hulst, C; Kooy, R F

2009-09-01

Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this review is to summarise two decades of molecular research leading to the characterisation of cellular and molecular pathways involved in the pathology of this disease and as a consequence to the identification of two new promising targets for rational therapy of fragile X syndrome, namely the group 1 metabotrope glutamate receptors (Gp1 mGluRs) and the gamma-amino butyric acid A receptors (GABA(A)Rs). As no current clinical treatments are directed specifically at the underlying neuronal defect due to absence of FMRP, this might open new powerful therapeutic strategies.

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

PubMed Central

Caliyurt, Okan; Vardar, Erdal; Tuglu, Cengiz

2004-01-01

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

The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review.

PubMed

Giacomozzi, Claudio; Deodati, Annalisa; Shaikh, Mohamad Guftar; Ahmed, Syed Faisal; Cianfarani, Stefano

2015-01-01

Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial. To systematically determine the impact of rhGH therapy on adult height in children with Noonan syndrome. We searched the Cochrane Central Register of Controlled Trials, ISI Web of Science, MEDLINE, and the bibliographic references from all retrieved articles published until April 2014. Studies reporting adult/near-adult height in children with Noonan syndrome treated with rhGH or reporting at least a 3-year follow-up were analysed. Quality and strength of recommendation were assessed according to the Endocrine Society criteria. No controlled trials reporting adult height were available. Five studies were identified reporting adult height or near adult height. Data comparison showed inter-individual variability in the response to rhGH, mean height gain standard deviation score ranging between 0.6 and 1.4 according to national standards, and between 0.6 and 2 according to Noonan standards. Significant biases affected all the studies. High-quality controlled trials on the impact of rhGH therapy on adult height are lacking, and the robustness of available data is not sufficient to recommend such therapy in children with Noonan syndrome. © 2015 S. Karger AG, Basel.

Electroconvulsive therapy for lycanthropy and Cotard syndrome: a case report.

PubMed

Grover, Sandeep; Shah, Ruchita; Ghosh, Abhishek

2010-12-01

We present a case of psychotic depression presenting with lycanthropy (being converted to a pig) and Cotard syndrome simultaneously and treated with electroconvulsive therapy. A 37-year-old female patient developed psychotic depression after a stressor (a possibility of having a malignancy). As her depression worsened, she developed delusional belief of self being metamorphosed to a pig and her children also being metamorphosed into pig. In addition, she had the delusional belief that her own body and body of her children was rotting away. She was treated with electroconvulsive therapy along with venlafaxine and olanzapine, with which she improved completely.

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

NASA Astrophysics Data System (ADS)

Gasparyan, Levon V.

2001-04-01

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

Reversible Hypokalemia and Bartter-Like Syndrome during Prolonged Systemic Therapy with Colistimethate Sodium in an Adult Patient.

PubMed

Kamal Eldin, Tarek; Tosone, Grazia; Capuano, Alfredo; Orlando, Raffaele

2017-12-01

We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult.

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

ERIC Educational Resources Information Center

Harris, Susan R.

1981-01-01

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

Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.

PubMed

Temme, Johanna; Kramer, Anneke; Jager, Kitty J; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V; Hoitsma, Andries J; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W; Gross, Oliver

2012-12-01

Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000-2004 and 2005-2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

Guillain-Barré syndrome during adalimumab therapy for Crohn´s disease: coincidence or consequence?

PubMed

Cançado, Guilherme Grossi Lopes; Vilela, Eduardo Garcia

2017-04-01

We report the case of a 64-year-old patient diagnosed with extensive ileal Crohn´s disease who developed Guillain-Barré syndrome after starting biological therapy with adalimumab. Neurologic involvement associated with inflammatory bowel diseases is recognized as an extra-intestinal manifestation. After the breakthrough of antitumor necrosis factor alpha (anti-TNF-α) agents, an increasing number of cases of acute inflammatory demyelinating polyneuropathies have been reported; however, only one case has been described in a patient with Crohn´s disease. Although a causal relationship between Guillain-Barré syndrome and TNF-α antagonist therapy cannot be proven, this report emphasizes the need to monitor for neurologic signs and symptoms in patients with inflammatory bowel diseases, with or without biological therapy, to avoid severe and irreversible complications associated with demyelinating diseases.

[German fibromyalgia consumer reports. Benefits and harms of fibromyalgia syndrome therapies].

PubMed

Häuser, W; Jung, E; Erbslöh-Möller, B; Gesmann, M; Kühn-Becker, H; Petermann, F; Langhorst, J; Weiss, T; Thoma, R; Winkelmann, A

2012-04-01

Consumer reports provide information on benefits and harms in routine clinical care. We report the first fibromyalgia syndrome (FMS) consumer reports in Europe. The study was carried out from November 2010 to April 2011. The benefits and harms of pharmacological and non-pharmacological therapies experienced by the patient were assessed in an 11-point Likert scale (0=no, 10=very high benefit or harm) by a questionnaire. The questionnaire was distributed by the German League against Rheumatism and the German Fibromyalgia Association to their members and to all consecutive FMS patients of nine clinical centers of different levels of care. A total of 1,661 questionnaires (95% women, mean age 54 years) were analyzed. Self-management strategies (distraction, resting, aerobic exercise), physical therapies (warm and pool therapies), psychological therapies (education, psychotherapy), and inpatient multicomponent therapies were judged to be more efficacious and less harmful than all types of pharmacological therapies. The German fibromyalgia consumer reports highlight the importance of non-pharmcological therapies in the long-term management of FMS.

Effect of early statin therapy after acute coronary syndromes: a concise review of the recent data.

PubMed

Bybee, Kevin A; Wright, R Scott; Kopecky, Stephen L

2002-01-01

HMG Co-A reductase inhibitors(statins) have been shown, in three large randomized trials, to decrease adverse cardiac events in patients with clinically evident coronary artery disease. All of these trials have excluded patients with an acute coronary syndrome within the three months prior to enrollment. Statin therapy is thought to stabilize coronary plaque and decrease the risk of plaque rupture. Statins have been shown to quickly reduce levels of LDL-C in addition to altering systemic inflammatory responses, improving endothelial function, and reducing platelet aggregation and activation. These mechanisms are potentially beneficial in the setting of acute coronary syndromes, a time of profound plaque instability. There is a growing body of evidence supporting the early initiation of statin therapy in the setting of acute coronary syndromes. This paper reviews the available data from randomized-controlled trials and observational studies evaluating the effect of early statin initiation during, or soon following, an acute coronary syndrome.

The impact of HIV infection and antiretroviral therapy on the predicted risk of Down syndrome.

PubMed

Charlton, Thomas G; Franklin, Jamie M; Douglas, Melanie; Short, Charlotte E; Mills, Ian; Smith, Rachel; Clarke, Amanda; Smith, John; Tookey, Pat A; Cortina-Borja, Mario; Taylor, Graham P

2014-02-01

The aim of this study was to assess predicted Down syndrome risk, based on three serum analytes (triple test), with HIV infection status and antiretroviral therapy regimen. Screening results in 72 HIV-positive women were compared with results from age-matched and race-matched HIV-negative controls. Mean concentrations of each analyte were compared by serostatus and antiretroviral therapy. Observed Down syndrome incidence in the offspring of HIV-positive women was calculated from national HIV surveillance data. Overall, women with HIV had a significantly higher probability of receiving a 'high-risk' result than uninfected controls (p = 0.002). Compared with matched uninfected controls, women with HIV infection had significantly higher human chorionic gonadotrophin, lower unconjugated estriol, and higher overall predicted risk of their infant having Down syndrome (1/6250 vs. 1/50 000 p = < 0.001). National surveillance data show no evidence of higher than expected incidence of Down syndrome in the offspring of HIV-positive women. HIV infection impacts the serum analytes used to assay for Down syndrome risk resulting in a high rate of 'high risk' results. However, there is no population-based association between maternal HIV infection and Down syndrome. Care should be taken when interpreting high-risk serum screening results in HIV-positive women to avoid unnecessary invasive diagnostic procedures. © 2013 John Wiley & Sons, Ltd.

Group cognitive behaviour therapy for adults with Asperger syndrome and anxiety or mood disorder: a case series.

PubMed

Weiss, Jonathan A; Lunsky, Yona

2010-01-01

Individuals with Asperger syndrome are at increased risk for mental health problems compared with the general population, especially with regard to mood and anxiety disorders. Generic mental health services are often ill-equipped to offer psychotherapeutic treatments to this population, and specialized supports are difficult to find. This case series used a manualized cognitive behaviour therapy group programme (Mind Over Mood) with three adults diagnosed with Asperger syndrome, who were each unable to access psychotherapy through mainstream mental health services. This review highlights the benefits of a cognitive behaviour therapy (CBT) group approach for adults with Asperger syndrome and suggests some potential modifications to traditional CBT provision.  © 2010 John Wiley & Sons, Ltd.

Fluorescein photodiagnosis of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: A case report and long-term outcome of photocoagulation therapy.

PubMed

Xia, Yonghui; Su, Yu; Wong, Ian Hin Yat; Ma, Xiaoli; Hua, Rui

2016-12-01

Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome is a disease characterized by multiple retinal macroaneurysms, neuroretinitis and peripheral capillary non-perfusion, leading to irreversible visual loss. It includes five stages and has previously been rarely reported. IRVAN syndrome is especially rare in Asia. In this report, we describe laser diagnosis and therapy in an Asian patient with IRVAN syndrome over two years of follow-up. We observed non-perfusion retina and dilated retinal capillaries in the contralateral eye. Photocoagulation is an effective therapy to control retinal macroaneurysms and nonperfusions and to prevent visual loss, particularly in the early stages of IRVAN syndrome (stages 2 & 3). To the best of our knowledge, this is the first long-term observation of photocoagulation in IRVAN syndrome. We discovered the early signs of such lesions, which may be beneficial for clinical diagnosis and therapy. Copyright © 2016 Elsevier B.V. All rights reserved.

Emerging biological therapies for the treatment of myelodysplastic syndromes.

PubMed

Zeidan, Amer M; Stahl, Maximilian; Komrokji, Rami

2016-09-01

No drug has resulted in a survival advantage in patients with lower-risk myelodysplastic syndromes (MDS). While hypomethylating agents (HMA) have revolutionized treatment options for patients with higher-risk MDS, the prognosis remains dismal after HMA treatment failure. Novel effective therapies are urgently needed especially after HMA failure. This review covers the current approach to disease prognostication and risk-adaptive therapy, as well as novel therapeutic approaches. We discuss the recent advancements in the understanding of MDS disease biology as a basis of targeted drug development. Several classes of novel agents are reviewed including drugs targeting dysregulated epigenetic control mechanisms, signaling pathways, abnormal splicing, as well as agents that target the immune system and the MDS bone marrow niche. Significant advancements in the understanding of the underlying biology of MDS are only starting to be translated into novel treatment options for MDS. Epigenetic therapy has shown significant clinical activity with HMA but the results of clinical trials combining HMAs with histone deacetylase inhibitors (HDACi) have been disappointing to date. Similarly, targeting several aberrant pathways in MDS has not resulted in significant improvements in therapy. Future therapies will focus both on synergic combination of existing drugs as well as novel agents targeting dysregulated immune responses and abnormal RNA splicing in MDS.

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

PubMed

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

PubMed Central

Temme, Johanna; Kramer, Anneke; Jager, Kitty J.; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G.; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V.; Hoitsma, Andries J.; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P.; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W.

2012-01-01

Summary Background and objectives Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Design, setting, participants, & measurements Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Results Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000–2004 and 2005–2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. Conclusions These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure. PMID:22997344

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

PubMed

El'chininov, N V

2009-01-01

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

Acupuncture as adjuvant therapy in thalamic syndrome: case report.

PubMed

Santos, Alysson Bruno Oliveira; Gozzani, Judymara Lauzi

2011-01-01

Cerebrovascular diseases are responsible for a large proportion of deaths in the world. Among survivors, the majority of limiting sequelae observed is motor in origin; but when sensorial pathways or centers are affected patients can evolve with sensorial changes in the body region represented by the area of the brain affected. When the affected area is related to the thalamus the patient might develop thalamic syndrome. The objective of this report was to demonstrate the use of electroacupuncture as adjuvant in the treatment of central pain, diagnosed as thalamic syndrome difficult to control with pharmacologic therapy. This is a 46 year-old female with history of ischemic stroke in the left temporoparietal region in April 2003 that evolved to right hemiparesis and hemitaxia. One year later, the patient developed continuous, insidious pain on the right side of the body with allodynia and hyperalgia, diagnosed as thalamic syndrome. In January 2006, she was admitted to the department of pain therapy and palliative care of Santa Casa de Misericórdia de São Paulo where pharmacologic treatment was instituted with poor response; she was scheduled for neurofunctional surgery. In July 2009, electroacupuncture, in an attempt to obtain better pain control, was proposed to the patient. Electroacupuncture was done on points in the scalp. After the 11(th) session, her pain was controlled, with no use of opioids or topical amitriptyline, her well-being had increased, her motor coordination improved, she presented global pain reduction, complete in hand and face. The efficacy of electroacupuncture in pain control and well-being are in agreement with modern studies which demonstrated activation of antinociceptive pathways in the brain. Controlled prospective studies are required to reaffirm and consolidate electroacupuncture as an important technique in controlling central pain. Copyright © 2011 Elsevier Editora Ltda. All rights reserved.

Successful treatment of dwarfism secondary to long-term steroid therapy in steroid-dependent nephrotic syndrome.

PubMed

Sun, Linlin; Chen, Dongping; Zhao, Xuezhi; Xu, Chenggang; Mei, Changlin

2010-01-01

Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term steroid use and nephrotic syndrome may interact or independently interfere with the process of growth. Here, we present a 17-year-old patient with dwarfism and steroid-dependent nephrotic syndrome and the successful treatment by recombinant human growth factor and cyclosporine A with withdrawal of steroid. We also briefly review the current understanding and the management of dwarfism in pediatric patients with nephrotic syndrome.

A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy.

PubMed

Chinen, Naofumi; Koyama, Yasushi; Sato, Shinji; Suzuki, Yasuo

2016-01-01

A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

Advancements in anti-inflammatory therapy for dry eye syndrome.

PubMed

McCabe, Erin; Narayanan, Srihari

2009-10-01

The goal of this literature review is to discuss recent discoveries in the pathophysiology of dry eye and the subsequent evolution of diagnostic and management techniques. The mechanisms of various anti-inflammatory treatments are reviewed, and the efficacy of common pharmacologic agents is assessed. Anti-inflammatory therapy is evaluated in terms of its primary indications, target population, and utility within a clinical setting. The Medline PubMed database and the World Wide Web were searched for current information regarding dry eye prevalence, pathogenesis, diagnosis, and management. After an analysis of the literature, major concepts were integrated to generate an updated portrayal of the status of dry eye syndrome. Inflammation appears to play a key role in perpetuating and sustaining dry eye. Discoveries of inflammatory markers found within the corneal and conjunctival epithelium of dry eye patients have triggered recent advancements in therapy. Pharmacologic anti-inflammatory therapy for dry eye includes 2 major categories: corticosteroids and immunomodulatory agents. Fatty acid and androgen supplementation and oral antibiotics have also shown promise in dry eye therapy because of their anti-inflammatory effects. Anti-inflammatory pharmacologic agents have shown great success in patients with moderate to severe dry eye when compared with alternative treatment modalities. A deeper understanding of the link between inflammation and dry eye validates the utilization of anti-inflammatory therapy in everyday optometric practice.

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. © 2014 S. Karger AG, Basel.

Efficacy of low level laser therapy in the treatment of burning mouth syndrome: A systematic review.

PubMed

Al-Maweri, Sadeq Ali; Javed, Fawad; Kalakonda, Butchibabu; AlAizari, Nader A; Al-Soneidar, Walid; Al-Akwa, Ameen

2017-03-01

Burning mouth syndrome (BMS) is a chronic pain condition with indefinite cure, predominantly affecting post-menopausal women. The aim of this study was to systematically review the efficacy of low level laser therapy in the treatment of burning mouth syndrome (BMS). PubMed, Embase and Scopus were searched from date of inception till and including October 2016 using various combinations of the following keywords: burning mouth syndrome, BMS, stomatodynia, laser therapy, laser treatment and phototherapy. The inclusion criteria were: Prospective, retrospective and case series studies. Letter to editors, reviews, experimental studies, studies that were not published in English, theses, monographs, and abstracts presented in scientific events were excluded. Due to heterogeneity of data no statistical analyses were performed. Ten clinical studies fulfilled the eligibility criteria, five of which were randomized clinical trials. In these studies, the laser wavelengths, power output and duration of irradiation ranged between 630-980nm, 20-300mW, 10s-15min, respectively. Most of studies reported laser to be an effective therapy strategy for management of BMS. Majority of the studies showed that laser therapy seemed to be effective in reducing pain in BMS patients. However, due to the varied methodologies and substantial variations in laser parameters among these studies, more clinical trials are required to ascertain the efficacy of laser for treating BMS. Copyright © 2016 Elsevier B.V. All rights reserved.

Speech therapy in adolescents with Down syndrome: In pursuit of communication as a fundamental human right.

PubMed

Rvachew, Susan; Folden, Marla

2018-02-01

The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders. Over six weeks, 18 speech therapy sessions were provided with treatment conditions randomly assigned to targets and sessions within weeks, specifically comparing auditory-motor integration prepractice and phonological planning prepractice to a control condition that included no prepractice. All treatments involved high intensity practice of nonsense word targets paired with tangible referents. A measure of generalisation from taught words to untaught real words in phrases revealed superior learning in the auditory-motor integration condition. The intervention outcomes may serve to justify the provision of appropriate supports to persons with Down syndrome so that they may achieve their full potential to receive information and express themselves.

Pachymeningeal involvement in POEMS syndrome: dramatic cerebral MRI improvement after lenalidomide therapy.

PubMed

Briani, Chiara; Manara, Renzo; Lessi, Federica; Citton, Valentina; Zambello, Renato; Adami, Fausto

2012-05-01

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome is a rare multisystemic disease associated with plasma cell dyscrasia and increased serum or plasma vascular endothelial growth factor (VEGF) levels, the latter likely responsible for several POEMS syndrome manifestations. Whereas peripheral neuropathy is the main neurological feature and a mandatory diagnostic criterium, central nervous system involvement is less common except for papilledema and stroke. We recently reported the frequent occurrence at brain MRI of cranial pachymeningeal involvement ina series of POEMS syndrome patients. Meningeal histopathology revealed hyperplasia of meningothelial cells, neovascularization, and obstructive vessel remodeling without inflammatory signs pointing to a role of VEGF in the meningeal manifestations. Here, we report the dramatic pachymeningeal improvement in patients undergoing lenalidomide therapy. These findings support the therapeutic role of lenalidomide and might shed further light on the pathophysiology of the disease

Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report.

PubMed

Misquiatti, Andréa Regina Nunes; Cristovão, Melina Pavini; Brito, Maria Claudia

2011-03-01

The aim of this study was to describe the trajectory and the outcomes of speech-language therapy in Prader-Willi syndrome through a longitudinal study of the case of an 8 year-old boy, along four years of speech-language therapy follow-up. The therapy sessions were filmed and documental analysis of information from the child's records regarding anamnesis, evaluation and speech-language therapy reports and multidisciplinary evaluations were carried out. The child presented typical characteristics of Prader-Willi syndrome, such as obesity, hyperfagia, anxiety, behavioral problems and self aggression episodes. Speech-language pathology evaluation showed orofacial hypotony, sialorrhea, hypernasal voice, cognitive deficits, oral comprehension difficulties, communication using gestures and unintelligible isolated words. Initially, speech-language therapy had the aim to promote the language development emphasizing social interaction through recreational activities. With the evolution of the case, the main focus became the development of conversation and narrative abilities. It were observed improvements in attention, symbolic play, social contact and behavior. Moreover, there was an increase in vocabulary, and evolution in oral comprehension and the development of narrative abilities. Hence, speech-language pathology intervention in the case described was effective in different linguistic levels, regarding phonological, syntactic, lexical and pragmatic abilities.

Fetal therapy for Down syndrome: an ethical exploration.

PubMed

de Wert, Guido; Dondorp, Wybo; Bianchi, Diana W

2017-03-01

Parallel to recent advances in prenatal screening for Down syndrome (DS), therapies for different aspects of the condition have become available. As intellectual disability is a key aspect, this is an active area for research. Several groups have hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with DS than postnatal treatment. Clinical trials are being developed. We first discuss the ethical pros and cons of trying to improve cognitive functioning in persons with DS to see if there are categorical objections to the general idea, and then move on to explore ethically relevant aspects of the prospect of developing fetal therapy for DS (FTDS). Only on the basis of a one-dimensional emphasis on the social model of disability would (fetal) therapy aimed at cognitive improvement be inherently problematic. Inviting pregnant women to participate in FTDS-research should be based on adequate pre-clinical trials, as well as information aimed at avoiding the so-called 'therapeutic misconception'. Should FTDS be proven to be effective and safe, women carrying a fetus with trisomy 21 who have decided to continue the pregnancy may have a moral obligation to make use of this option. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

Myelodysplastic Syndromes and Iron Chelation Therapy

PubMed Central

Angelucci, Emanuele; Urru, Silvana Anna Maria; Pilo, Federica; Piperno, Alberto

2017-01-01

Over recent decades we have been fortunate to witness the advent of new technologies and of an expanded knowledge and application of chelation therapies to the benefit of patients with iron overload. However, extrapolation of learnings from thalassemia to the myelodysplastic syndromes (MDS) has resulted in a fragmented and uncoordinated clinical evidence base. We’re therefore forced to change our understanding of MDS, looking with other eyes to observational studies that inform us about the relationship between iron and tissue damage in these subjects. The available evidence suggests that iron accumulation is prognostically significant in MDS, but levels of accumulation historically associated with organ damage (based on data generated in the thalassemias) are infrequent. Emerging experimental data have provided some insight into this paradox, as our understanding of iron-induced tissue damage has evolved from a process of progressive bulking of organs through high-volumes iron deposition, to one of ‘toxic’ damage inflicted through multiple cellular pathways. Damage from iron may, therefore, occur prior to reaching reference thresholds, and similarly, chelation may be of benefit before overt iron overload is seen. In this review, we revisit the scientific and clinical evidence for iron overload in MDS to better characterize the iron overload phenotype in these patients, which differs from the classical transfusional and non-transfusional iron overload syndrome. We hope this will provide a conceptual framework to better understand the complex associations between anemia, iron and clinical outcomes, to accelerate progress in this area. PMID:28293409

Insulin resistance, metabolic syndrome and chronic low grade inflammation in Sheehan's syndrome on standard replacement therapy: a case control study.

PubMed

Bhat, Manzoor Ahmad; Laway, Bashir Ahmad; Shah, Zaffar Amin; Wani, Arshad Iqbal; Mubarik, Idrees

2015-06-01

Increased clustering of metabolic risk factors has been demonstrated in patients with hypopituitarism on standard replacement therapy. This usually has been attributed to persistent growth hormone deficiency, though contribution from underlying etiology of hypopituitarism cannot be underestimated. We, therefore, studied conventional metabolic risk factors and pro inflammatory markers in a cohort of hypopituitary patients in whom the etiology was Sheehan's syndrome. We studied 30 GH naive patients with Sheehan's syndrome (SS) on standard replacement therapy and compared with healthy age, BMI and parity matched controls. All subjects were normotensive, non-diabetic, non-smokers and none had history of any acute or chronic illness. We recorded height, weight, BMI, waist circumference and waist hip ratio, besides measuring biochemical parameters like lipid profile, fasting plasma glucose and insulin, sVCAM-1, ICAM-1 and hsCRP. Metabolic syndrome and impaired glucose tolerance were more common with SS patients. Similarly total cholesterol (mean ± SD, 5.21 ± 0.98 vs 4.57 ± 0.88, P = 0.00), LDL-cholesterol (3.15 ± 0.90 vs 2.67 ± 0.75, P = 0.02), triglycerides (2.14 ± 1.00 vs 1.43 ± 0.45, P = 0.00) and pro-inflammatory markers i.e. hsCRP (3.95 ± 2.58 vs 1.45 ± 2.77, P = 0.00) were significantly higher in patients with SS. hsCRP positively correlated with fasting insulin (r = 0.40, P = 0.02), HOMA-IR (r = 0.38, P = 0.03) and negatively with HDL (r = - 0.33, P = 0.05). GH naïve SS patients on standard replacement therapy have increased clustering of metabolic and pro-inflammatory risk factors.

[Cognitive therapy for patients with refractory irritable bowel syndrome].

PubMed

Wang, Weian; Pan, Guozong; Qian, Jiaming

2002-03-01

To investigate the procedure and tactics used in the cognitive therapy for patients with irritable bowel syndrome (IBS), and to evaluate the efficacy of cognitive therapy in the treatment of refractory IBS. A self-control study on the cognitive therapy for 22 patients with refractory IBS symptoms (according to Rome II criteria) was performed. The procedure of cognitive therapy included five steps, namely health education, patients' questioning, relaxing training, dissensitization training, and patients' homework for enforcing the effect of former four steps. The effects of cognitive therapy for IBS were evaluated by improvement of symptom-related-anxiety, index of symptom, quality of life specific for IBS and coping. All 22 cases completed cognitive therapy and first follow-up unit (FFU), at the end of FFU, clinical symptoms in all patients improved (P < 0.05), of them, 81.8% improved significantly (P < 0.001); at 12-months-follow-up, complete remission of clinical symptoms occurred in 72.7% (8/11) patients. Comparison of the scores of symptom-related-anxiety, index of symptom, quality of life specific IBS and coping at the end of 1st follow-up unit with that at basal level, the scores of symptom-anxiety, indexes of severity and frequency of symptoms decreased significantly (P < 0.001, respectively); the scores of depression and anxiety in SCL-90 also decreased significantly (P < 0.001). The scores of active coping rose significantly (P = 0.000). IBS-QOL improved significantly (P < 0.05), of them, dysphoria, body image, food avoidence improved very significantly (P < 0.001, respectively). Cognitive therapy for patients with refractory IBS is rational and effective. During cognitive therapy, we should follow the therapeutic procedure and the principle of individuation.

Current therapies for Morquio A syndrome and their clinical outcomes

PubMed Central

Sawamoto, Kazuki; Suzuki, Yasuyuki; Mackenzie, William G.; Theroux, Mary C.; Pizarro, Christian; Yabe, Hiromasa; Orii, Kenji E.; Mason, Robert W.; Orii, Tadao; Tomatsu, Shunji

2016-01-01

Introduction Morquio A syndrome is characterized by a unique skeletal dysplasia, leading to short neck and trunk, pectus carinatum, laxity of joints, kyphoscoliosis, and tracheal obstruction. Cervical spinal cord compression/inability, a restrictive and obstructive airway, and/or bone deformity and imbalance of growth, are life-threatening to Morquio A patients, leading to a high morbidity and mortality. It is critical to review the current therapeutic approaches with respect to their efficacy and limitations. Areas covered Patients with progressive skeletal dysplasia often need to undergo orthopedic surgical interventions in the first two decades of life. Recently, we have treated four patients with a new surgery to correct progressive tracheal obstruction. Enzyme replacement therapy (ERT) has been approved clinically. Cell-based therapies such as hematopoietic stem cell therapy (HSCT) and gene therapy are typically one-time, permanent treatments for enzyme deficiencies. We report here on four Morquio A patients treated with HSCT approved in Japan and followed for at least ten years after treatment. Gene therapy is under investigation on mouse models but not yet available as a therapeutic option. Expert opinion ERT and HSCT in combination with surgical intervention(s) are a therapeutic option for Morquio A; however, the approach for bone and cartilage lesion remains an unmet challenge. PMID:28217429

Effects of Mirror Therapy in Stroke Patients With Complex Regional Pain Syndrome Type 1: A Randomized Controlled Study.

PubMed

Pervane Vural, Secil; Nakipoglu Yuzer, Guldal Funda; Sezgin Ozcan, Didem; Demir Ozbudak, Sibel; Ozgirgin, Nese

2016-04-01

To investigate the effects of mirror therapy on upper limb motor functions, spasticity, and pain intensity in patients with hemiplegia accompanied by complex regional pain syndrome type 1. Randomized controlled trial. Training and research hospital. Adult patients with first-time stroke and simultaneous complex regional pain syndrome type 1 of the upper extremity at the dystrophic stage (N=30). Both groups received a patient-specific conventional stroke rehabilitation program for 4 weeks, 5 d/wk, for 2 to 4 h/d. The mirror therapy group received an additional mirror therapy program for 30 min/d. We evaluated the scores of the Brunnstrom recovery stages of the arm and hand for motor recovery, wrist and hand subsections of the Fugl-Meyer Assessment (FMA) and motor items of the FIM-motor for functional status, Modified Ashworth Scale (MAS) for spasticity, and visual analog scale (VAS) for pain severity. After 4 weeks of rehabilitation, both groups had significant improvements in the FIM-motor and VAS scores compared with baseline scores. However, the scores improved more in the mirror therapy group than the control group (P<.001 and P=.03, respectively). Besides, the patients in the mirror therapy arm showed significant improvement in the Brunnstrom recovery stages and FMA scores (P<.05). No significant difference was found for MAS scores. In patients with stroke and simultaneous complex regional pain syndrome type 1, addition of mirror therapy to a conventional stroke rehabilitation program provides more improvement in motor functions of the upper limb and pain perception than conventional therapy without mirror therapy. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

The Spectrum of Monogenic Autoinflammatory Syndromes: Understanding Disease Mechanisms and Use of Targeted Therapies

PubMed Central

Glaser, Rachel L.; Goldbach-Mansky, Raphaela

2009-01-01

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

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

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

ERIC Educational Resources Information Center

Bazelmans, Ellen; Prins, Judith; Bleijenberg, Gijs

2006-01-01

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

Irritable bowel syndrome treatment: cognitive behavioral therapy versus medical treatment

PubMed Central

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

2012-01-01

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

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…

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy.

PubMed

Mainali, Naba Raj; Schmidt, Torrey R; Alweis, Richard; George, David L

2014-01-01

Male, 67 FINAL DIAGNOSIS: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: - Clinical Procedure: - Specialty: Rheumatology. Unusual or unexpected effect of treatment. Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE.

Implantable cardioverter-defibrillator therapy in Brugada syndrome: a 20-year single-center experience.

PubMed

Conte, Giulio; Sieira, Juan; Ciconte, Giuseppe; de Asmundis, Carlo; Chierchia, Gian-Battista; Baltogiannis, Giannis; Di Giovanni, Giacomo; La Meir, Mark; Wellens, Francis; Czapla, Jens; Wauters, Kristel; Levinstein, Moises; Saitoh, Yukio; Irfan, Ghazala; Julià, Justo; Pappaert, Gudrun; Brugada, Pedro

2015-03-10

Patients with Brugada syndrome and aborted sudden cardiac death or syncope have higher risks for ventricular arrhythmias (VAs) and should undergo implantable cardioverter-defibrillator (ICD) placement. Device-based management of asymptomatic patients is controversial. ICD therapy is associated with high rates of inappropriate shocks and device-related complications. The objective of this study was to investigate clinical features, management, and long-term follow-up of ICD therapy in patients with Brugada syndrome. Patients presenting with spontaneous or drug-induced Brugada type 1 electrocardiographic findings, who underwent ICD implantation and continuous follow-up at a single institution, were eligible for this study. A total of 176 consecutive patients were included. During a mean follow-up period of 83.8 ± 57.3 months, spontaneous sustained VAs occurred in 30 patients (17%). Eight patients (4.5%) died. Appropriate ICD shocks occurred in 28 patients (15.9%), and 33 patients (18.7%) had inappropriate shocks. Electrical storm occurred in 4 subjects (2.3%). Twenty-eight patients (15.9%) experienced device-related complications. In multivariate Cox regression analysis, aborted sudden cardiac death and VA inducibility on electrophysiologic studies were independent predictors of appropriate shock occurrence. ICD therapy was an effective strategy in Brugada syndrome, treating potentially lethal arrhythmias in 17% of patients during long-term follow-up. Appropriate shocks were significantly associated with the presence of aborted sudden cardiac death but also occurred in 13% of asymptomatic patients. Risk stratification by electrophysiologic study may identify asymptomatic patients at risk for arrhythmic events and could be helpful in investigating syncope not related to VAs. ICD placement is frequently associated with device-related complications, and rates of inappropriate shocks remain high regardless of careful device programming. Copyright © 2015 American

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

NASA Astrophysics Data System (ADS)

La Madeleine, Carole

le BrdU au niveau cellulaire. Notre hypothese (basee sur des resultats preliminaires effectues dans notre laboratoire) est que l'irradiation de l'ADN cellulaire en presence de BrdU augmentera le nombre de bris simple brin sans toutefois augmenter le nombre de bris double brin. Les resultats presentes dans ce memoire semblent corroborer cette hypothese. Les nouvelles methodes d'analyse, soient l'essai comete et la detection des foci gamma-H2AX remettent en question ce qui a ete dit sur le BrdU au sujet de l'induction des cassures double brin depuis plusieurs annees. L'ensemble de ces nouveaux resultats effectue a l'aide de cellules ayant incorporees du BrdU sont en correlation avec de precedents resultats obtenus dans notre laboratoire sur des oligonucleotides bromes. Ils reaffirment que l'irradiation combinee au BrdU augmente l'induction de bris simple brin mais pas de bris double brin. L'investigation approfondie des mecanismes d'action non elucides du BrdU au niveau cellulaire et son utilisation a des moments strategiques pendant le traitement de radiotherapie pourraient accroitre son efficacite a des fins d'utilisation clinique. Mots cles : 5-bromodeoxyuridine, dimeres interbrins, dommage a l'ADN, essai comete, H2AX, radiosensibilisateur, radiotherapie

[The assessment of suicidal risk in the concept of the presuicidal syndrome, and the possibilities it provides for suicide prevention and therapy--review].

PubMed

Polewka, Andrzej; Chrostek Maj, Jan; Warchoł, Katarzyna; Groszek, Barbara

2005-01-01

To present Erwin Ringel's theory of the presuicidal syndrome as an instrument for the assessment of suicidal risk. The literature regarding the presuicidal syndrome was reviewed. As it is evident from the research and works by Ringel, and also from the works by other classics of suicidological literature, such as Farberow, Poldinger, Schneidmann, Beck, and B6hme, the discovery of the presuicidal syndrome has opened up new vistas for the therapy of suicidal tendencies. The knowledge of the nature of the presuicidal syndrome indicates that a specific "anti-suicide" therapy has to be applied. The principal aims of such a therapy include the removal of the patient's feeling of alienation by the creation of a good doctor-patient relationship, the creation of the conditions enabling the patient to vent his/her aggression verbally, the removal of the presuicidal narrowing of the patient's consciousness by the reinforcement of the effective, positive behaviour, and the stimulation of the patient's imagination towards the formulation of new aims in life. The concept of the presuicidal syndrome, although somewhat forgotten, still can enhance the understanding of the psychopathology of suicide, contribute to the effective identification of individuals endangered by the occurrence of suicidal tendencies, and contribute to the increase in the effectiveness of the therapy required. Finally, the present authors suggest that the presuicidal syndrome, as a special multifactor psychopathological phenomenon, should be recognized as a diagnostic unit, thus filling in the present gap in the classifications of mental illnesses.

Effectiveness of Group Cognitive-Behavioral Therapy on Symptoms of Premenstrual Syndrome (PMS) ‎.

PubMed

Maddineshat, Maryam; Keyvanloo, Sodabe; Lashkardoost, Hossein; Arki, Mina; Tabatabaeichehr, Mahbubeh

2016-01-01

Standards of care and treatment of premenstrual syndrome (PMS) vary. Non-drug ‎psychosocial intervention therapy is recommended for women with any kind of ‎discomfort or distress caused by PMS. The current study examined the effectiveness of ‎group cognitive-behavioral therapy on the symptoms of PMS at a girls' dormitory of ‎North Khorasan University of Medical Sciences. In this quasi-experimental study, 32 female students with PMS who were majoring in ‎nursing and midwifery and residing in the dormitory were selected using the ‎convenience sampling method and were assigned to experimental and control groups. ‎The Standardized Premenstrual Symptoms Screening Tool was used as the research ‎tool. Eight sessions of cognitive-behavioral group therapy were held for the students Results: There was a significant difference in psychological symptoms before and after ‎cognitive-behavioral therapy (p=0.012). Furthermore, cognitive-behavioral therapy was ‎effective on social interferences caused by PMS symptoms (p=0.012).‎ Group cognitive-behavioral therapy effectively alleviates PMS symptoms in female ‎college students.‎.

Tibial nerve stimulation for overactive bladder syndrome unresponsive to medical therapy.

PubMed

Ridout, A E; Yoong, W

2010-02-01

Overactive bladder syndrome is defined as a symptom syndrome which includes urinary urgency, with or without urge incontinence, usually accompanied by frequency (>8 micturitions/24 h) and nocturia. Conservative treatment usually comprises behavioural techniques, bladder retraining, pelvic floor re-education and pharmacotherapy but up to 30% of patients will remain refractory to treatment. Although second-line treatment options such as sacral nerve stimulation and intravesical botulinum A injections are valuable additions to the therapeutic arsenal, they are relatively invasive and can have serious side-effects. Inhibition of detrusor activity by peripheral neuromodulation of the posterior tibial nerve was first described in 1983, with recent authors further confirming a 60-80% positive response rate. This review was undertaken to examine published literature on percutaneous tibial nerve stimulation and to discuss outcome measures, maintenance therapy and prognostic factors of this technique.

Effects of Gua Sha therapy on perimenopausal syndrome: A systematic review and meta-analysis of randomized controlled trials.

PubMed

Ren, Qing; Yu, Xinyu; Liao, Fujiu; Chen, Xiaofan; Yan, Dongmei; Nie, Heyun; Fang, Jinju; Yang, Meng; Zhou, Xu

2018-05-01

In East Asia, Gua Sha therapy is widely used in patients with perimenopausal syndrome. The goal of this systematic review was to evaluate the available evidence from randomized controlled trials (RCTs) of Gua Sha therapy for the treatment of patients with perimenopausal syndrome. Databases searched from inception until June 2017 included: PubMed, Embase, the Cochrane Central Register of Controlled Trials and four Chinese databases [WanFang Med Database, Chinese BioMedical Database, Chinese WeiPu Database, and the China National Knowledge Infrastructure (CNKI)]. Only the RCTs related to the effects of Gua Sha therapy on perimenopausal syndrome were included in this systematic review. A quantitative analysis of RCTs was employed using RevMan 5.3 software. Study selection, data extraction, and validation were performed by two independent reviewers. Cochrane criteria for risk-of-bias were used to evaluate the methodological quality of the trials. A total of 6 RCTs met the inclusion criteria, and most were of low methodological quality. When compared with Western medicine therapy alone, meta-analysis of 5 RCTs indicated favorable statistically significant effects of Gua Sha therapy plus Western medicine on the Kupperman Menopausal Index (KMI) Score [mean difference (MD) = -4.57, 95% confidence interval (CI) (-5.37, -3.77), p < 0.01; heterogeneity: Chi 2  = 29.57 p < 0.01, I 2  = 86%]. Moreover, study participants who received Gua Sha therapy plus Western medicine therapy showed significantly greater improvements in serum levels of follicle-stimulating hormone (FSH) [MD = -5.00, 95% CI (-9.60, -0.40), p = 0.03], luteinizing hormone (LH) [MD = -4.00, 95% CI (-7.67, -0.33), p = 0.03], and E 2 [MD = -6.60, 95% CI (-12.32, -0.88), p = 0.02] compared to participants in the Western medicine therapy group, with a low heterogeneity (Chi 2  = 0.12, p = 0.94, I 2  = 0% in FSH; Chi 2  = 0.19 p = 0.91, I 2  = 0% in

Physical Therapy for Metabolic Syndrome Prevention in Workers: Novel Role of Physical Therapist.

PubMed

Satoh, Tomonori; Nemoto, Yuki; Utumi, Takako; Munakata, Masanori

2016-01-01

In Japan, physical therapists have usually been involved in physical therapy for patients with functional disorders associated with cerebrovascular or orthopedic diseases in hospitals. With the aging of Japanese society, the number of diseased people will progressively increase; thus, it is important to pay much more attention to disease prevention. In this regard, physical therapists are expected to play a new role in the field of preventive medicine. Metabolic syndrome or central obesity with multiple cardiometabolic risks is associated with a high risk of type 2 diabetes or cardiovascular diseases and is now a central target for early detection and intervention for disease prevention. The incidence of metabolic syndrome increases with age, and men showed a higher incidence of metabolic syndrome than women in all generations. We have been involved in the guidance of workers with metabolic syndrome for a long time, and we conducted a multicenter study to establish effective guidance for these worker. In this paper, we will use our evidence to discuss the role of physical therapists in providing guidance for preventing metabolic syndrome. We are now conducting worksite supporting exercise intervention for workers who were resistant to conventional lifestyle guidance. In addition, the unique role of physical therapists in this new trial will be introduced.

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

PubMed

Mazzanti, Laura; Tamburrino, Federica; Scarano, Emanuela; Perri, Annamaria; Vestrucci, Benedetta; Guidetti, Monica; Rossi, Cesare; Tartaglia, Marco

2013-11-01

Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than those generally observed in NS, even though the phenotype improves with age. We report on growth and pubertal trend in seven patients heterozygous for a mutated SHOC2 allele, treated with long-term GH-therapy, and final height (FH) in three of them. They were approximately -3 SDS below the Italian general population standards, they had very low IGF1 levels at baseline and GHD at pharmacological tests. All patients were treated with GH (0.035 mg/kg/day) for a mean period of 8.49 ± 5.72 years. After the 1st year of GH-therapy, IGF1 level and height velocity had increased. Three of 7 patients reached the FH (-2.34 ± 0.12 SDS) at 18.25 ± 0.73 years, after GH administration for 12.39 ± 2.12 years. Pubertal development was variable, showing a prolonged and delayed puberty or rapid pubertal progression that could impair the FH. Overall, our data in this small cohort suggest that NS/LAH patients benefit from long-term GH-therapy, although they do not show the characteristic catch-up growth of isolated GHD. While the observed growth and pubertal behavior is consistent with a dysfunction of the hypothalamic-pituitary-gonadal axis, the functional link between SHOC2 and the GH/IGF signaling pathways remains to be clarified. © 2013 Wiley Periodicals, Inc.

Physiotherapy and behavior therapy for the treatment of overactive bladder syndrome: a prospective cohort study.

PubMed

Wolz-Beck, Martina; Reisenauer, Christl; Kolenic, Giselle E; Hahn, Sabine; Brucker, Sara Y; Huebner, Markus

2017-05-01

To determine the efficacy of physiotherapy and behavior therapy and to find specific subgroups of women with overactive bladder syndrome that might gain increased benefit from this therapy. Women with ≥10 micturitions per 24-h period were included. Six to nine therapy sessions were held within a 14-day interval. Efficacy end point was a reduction in micturitions and in episodes of nocturia. Secondary outcomes included ICIQ-OAB, ICIQ-OABqol and visual analog scales. Follow-up was 6 months. Levene test, Student's t test, Pearson´s and Spearman's correlations were utilized as well as the Friedman test and a multivariable-multilevel model. 32 women were included. Mean age was 51 ± 15.9 (years ± standard deviation, sd). Mean body mass index (BMI) was 24.4 ± 4.8 (kg/m 2  ± sd). There was a 22.9% reduction in the number of micturitions per 24 h (11.7 ± 1.6 vs. 9.0 ± 1.3 p < 0.001), a 21.3% reduction during the day (10.3 ± 1.4 vs. 8.1 ± 1.1 p < 0.001) and a 34.7% reduction in episodes of nocturia (1.5 ± 1.0 vs. 1.0 ± 0.8 p = 0.026). Both ICIQ-OAB (8.7 ± 2.3 vs. 5.8 ± 2.7 vs. 6.3 ± 3.3 p < 0.001) and ICIQ-OABqol (73.4 ± 25.9 vs. 47.5 ± 14.5 vs. 47.7 ± 18.6 p < 0.001) questionnaires as well as VAS (7.5 ± 1.4 vs. 4.1 ± 2.4 vs. 4.2 ± 2.7 p < 0.001) showed significant improvement persisting in the 6-month follow-up. In addition, in a multivariable model controlling for age, women who were overactive bladder syndrome therapy naïve responded significantly better than those who had already been under therapy (p < 0.001). This study shows the efficacy of physiotherapy and behavior therapy in women with overactive bladder syndrome with a post-therapy effect especially for women with no prior treatment.

A randomized, controlled trial of magnetic therapy for carpal tunnel syndrome.

PubMed

Baute, Vanessa; Keskinyan, Vahakn S; Sweeney, Erica R; Bowden, Kayla D; Gordon, Allison; Hutchens, Janet; Cartwright, Michael S

2018-03-07

Magnet therapy has been proposed as a treatment for neurologic conditions. In this this trial we assessed the feasibility and efficacy of a magnet inserted into a wristband for carpal tunnel syndrome (CTS). Twenty-two patients with mild to moderate CTS were randomized to wear a high-dose or low-dose "sham" magnetic wristband for 6 weeks. The primary outcome was the Symptom Severity Scale (SSS) of the Boston Carpal Tunnel Questionnaire. Secondary measures were nerve conduction studies (NCS), median nerve ultrasound, and compliance. Compliance for both groups was >90%. Improvements in the mean SSS, NCS, and median nerve ultrasound did not reach statistical significance. Magnet therapy via wristband is well-tolerated. Further investigations in larger populations are needed to determine efficacy. Muscle Nerve, 2018. © 2018 Wiley Periodicals, Inc.

Down Syndrome

MedlinePlus

... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

[Physiotherapy, occupational therapy and physical therapy in fibromyalgia syndrome : Updated guidelines 2017 and overview of systematic review articles].

PubMed

Winkelmann, A; Bork, H; Brückle, W; Dexl, C; Heldmann, P; Henningsen, P; Krumbein, L; Pullwitt, V; Schiltenwolf, M; Häuser, W

2017-06-01

The regular update of the guidelines on fibromyalgia syndrome, AWMF number 145/004, was scheduled for April 2017. The guidelines were developed by 13 scientific societies and 2 patient self-help organizations coordinated by the German Pain Society. Working groups (n =8) with a total of 42 members were formed balanced with respect to gender, medical expertise, position in the medical or scientific hierarchy and potential conflicts of interest. A literature search for systematic reviews of randomized, controlled trials on physiotherapy, occupational therapy and physical therapy from December 2010 to May 2016 was performed in the Cochrane library, MEDLINE, PsycINFO and Scopus databases. Levels of evidence were assigned according to the classification system of the Oxford Centre for Evidence-Based Medicine version 2009. The strength of recommendations was achieved by multiple step formalized procedures to reach a consensus. Efficacy, risks, patient preferences and applicability of available therapies were weighed up against each other. The guidelines were reviewed and approved by the board of directors of the societies engaged in the development of the guidelines. Low to moderate intensity endurance and strength training are strongly recommended. Chiropractic, laser therapy, magnetic field therapy, massage and transcranial magnetic stimulation are not recommended.

[Post-stroke shoulder-hand syndrome treated with floating-needle therapy combined with rehabilitation training: a randomized controlled trial].

PubMed

Zhou, Zhao-Hui; Zhuang, Li-Xing; Chen, Zhen-Hu; Lang, Jian-Ying; Li, Yan-Hui; Jiang, Gang-Hui; Xu, Zhan-Qiong; Liao, Mu-Xi

2014-07-01

To compare the clinical efficacy in the treatment of post-stroke shoulder-hand syndrome between floating-needle therapy and conventional acupuncture on the basis of rehabilitation training. One hundred cases of post-stroke shoulder-hand syndrome were randomized into a floating-needle group and an acupuncture group, 50 cases in each one. The passive and positive rehabilitation training was adopted in the two groups. Additionally, in the floating-needle group, the floating-needle therapy was used. The needle was inserted at the site 5 to 10 cm away from myofasical trigger point (MTrP), manipulated and scattered subcutaneously, for 2 min continuously. In the acupuncture group, the conventional acupuncture was applied at Jianqian (EX-UE), Jianyu (LI 15), Jianliao (TE 14), etc. The treatment was given once every two days, 3 times a week, and 14 days of treatment were required. The shoulder hand syndrome scale (SHSS), the short form McGill pain scale (SF-MPQ) and the modified Fugl-Meyer motor function scale (FMA) were used to evaluate the damage severity, pain and motor function of the upper limbs before and after treatment in the two groups. The clinical efficacy was compared between the two groups. SHSS score, SF-MPQ score and FMA score were improved significantly after treatment in the two groups (all P < 0.01), and the improvements in the floating-needle group were superior to those in the acupuncture group (all P < 0.05). The total effective rate was 94.0% (47/50) in the floating-needle group, which was better than 90.0% (45/50) in the acupuncture group (P < 0.05). The floating-needle therapy combined with rehabilitation training achieves a satisfactory efficacy on post-stroke shoulder-hand syndrome, which is better than the combined therapy of conventional acupuncture and rehabilitation training.

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

NASA Astrophysics Data System (ADS)

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

2014-02-01

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

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

PubMed

de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Willem Redeker, Egbert Johan; Eduard Santen, Gijs Willem; Henriëtta Verkerk, Annemieke Johanna Maria; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

2017-12-15

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

PubMed Central

de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Redeker, Egbert Johan Willem; Santen, Gijs Willem Eduard; Verkerk, Annemieke Johanna Maria Henriëtta; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

2017-01-01

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS. PMID:28588001

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy

PubMed Central

Mainali, Naba Raj; Schmidt, Torrey R.; Alweis, Richard; George, David L.

2014-01-01

Patient: Male, 67 Final Diagnosis: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: — Clinical Procedure: — Specialty: Rheumatology Objective: Unusual or unexpected effect of treatment Background: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Case Report: Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. Conclusions: To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE. PMID:24696753

Ultrasound-Guided Application of Percutaneous Electrolysis as an Adjunct to Exercise and Manual Therapy for Subacromial Pain Syndrome: a Randomized Clinical Trial.

PubMed

de-Miguel-Valtierra, Lorena; Salom-Moreno, Jaime; Fernández-de-Las-Peñas, César; Cleland, Joshua A; Arias-Buría, José L

2018-05-16

This randomized clinical trial compared the effects of adding US-guided percutaneous electrolysis into a program consisting of manual therapy and exercise on pain, related-disability, function and pressure sensitivity in subacromial pain syndrome. Fifty patients with subacromial pain syndrome were randomized into manual therapy and exercise or percutaneous electrolysis group. All patients received the same manual therapy and exercise program, one session per week for 5 consecutive weeks. Patients assigned to the electrolysis group also received the application of percutaneous electrolysis at each session. The primary outcome was Disabilities of the Arm, Shoulder and Hand (DASH). Secondary outcomes included pain, function (Shoulder Pain and Disability Index-SPADI) pressure pain thresholds (PPTs) and Global Rating of Change (GROC). They were assessed at baseline, post-treatment, and 3, and 6 months after treatment. Both groups showed similar improvements in the primary outcome (DASH) at all follow-ups (P=0.051). Subjects receiving manual therapy, exercise, and percutaneous electrolysis showed significantly greater changes in shoulder pain (P<0.001) and SPADI (P<0.001) than those receiving manual therapy and exercise alone at all follow-ups. Effect sizes were large (SMD>0.91) for shoulder pain and function at 3 and 6 months in favour of the percutaneous electrolysis group. No between-groups differences in PPT were found. The current clinical trial found that the inclusion of US-guided percutaneous electrolysis in combination with manual therapy and exercise resulted in no significant differences for related-disability (DASH) than the application of manual therapy and exercise alone in patients with subacromial pain syndrome. Nevertheless, differences were reported for some secondary outcomes such as shoulder pain and function (SPADI). Whether or not these effects are reliable should be addressed in future studies Perspective This study found that the inclusion of US

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

PubMed Central

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

2013-01-01

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

Comparison of Bladder Directed and Pelvic Floor Therapy in Women With Interstitial Cystitis/Bladder Pain Syndrome

DTIC Science & Technology

2017-09-01

PROJECT NUMBER Kenneth M. Peters 5e. TASK NUMBER 5f. WORK UNIT NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) 8. PERFORMING ORGANIZATION REPORT...AWARD NUMBER: W81XWH-16-1-0307 TITLE: Comparison of Bladder-Directed and Pelvic Floor Therapy in Women With Interstitial Cystitis/Bladder Pain...Pelvic Floor Therapy in Women With Interstitial Cystitis/Bladder Pain Syndrome 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d

[Effective combination therapy of plasma exchange and subsequent cyclophosphamide pulses for catastrophic antiphospholipid antibody syndrome: a case report].

PubMed

Miyamae, T; Imagawa, T; Ito, S; Katakura, S; Mori, M; Ibe, M; Mitsuda, T; Aihara, Y; Nakanishi, S; Kohri, T; Yokota, S

1999-06-01

A 7-year-old girl with catastrophic antiphospholipid antibody syndrome was described. She firstly admitted to the local hospital with the complaints of persistent fever and abdominal pain, and was diagnosed as systemic lupus erythematosus with the laboratory findings as follows; positive for antinuclear antibody, anti-DNA antibody, and platelet-associated IgG, thrombocytopenia, and hypocomplementemia. 10 days after the initiation of oral prednisolone, she suddenly manifested tonic convulsion and unconsciousness accompanied by high fever. Because of the unresponsiveness to the methylprednisolone pulse therapy for supposed CNS lupus, she was transferred to our hospital. Her unconsciousness persisted, and pulsation on dorsalis pedis was not palpable on admission. Laboratory investigation revealed the falsely positive VDRL, a prolonged aPTT, positive for lupus-anticoagulant and antiphospholipid antibody. The magnetic resonance image demonstrated multiple spotty hyperintensity (T2) in the brain consistent with multiple hemorrhagic infarcts. Arteriogram demonstrated the infarct of dorsalis pedis, and coronary aneurysms. These findings were compatible with the criteria of catastrophic antiphospholipid antibody syndrome, she was diagnosed as catastrophic antiphospholipid antibody syndrome. The plasma exchange and subsequent cyclophosphamide-pulse therapy, which was given once a month for first 6 months, and later, at 3 months intervals, was effectively administered. This combination and oral anti-thrombotic therapy revealed effective for this kind of fatal disorder.

Changes in illness perceptions mediated the effect of cognitive behavioural therapy in severe functional somatic syndromes.

PubMed

Christensen, Sara Sletten; Frostholm, Lisbeth; Ørnbøl, Eva; Schröder, Andreas

2015-04-01

Although there is substantial evidence that cognitive behavioural therapy alleviates symptoms in functional somatic syndromes, the mechanisms of change are less investigated. This study examined whether changes in illness perceptions mediated the effect of cognitive behavioural therapy. We analysed additional data from a randomised controlled trial comparing completers of cognitive behavioural group therapy (46 patients) to an enhanced usual care group (66 patients). Proposed mediators (illness perceptions) and primary (physical health) and secondary (somatic symptoms and illness worry) outcomes were assessed by means of questionnaires at referral, baseline, end of treatment, and 10 and 16 months after randomisation. Multiple mediation analysis determined whether (1) changes in specific illness perceptions during treatment mediated the effect of cognitive behavioural therapy (primary analysis), and (2) whether changes in illness perceptions during the whole trial period were associated with improved outcome (secondary analysis). Improvements in illness perceptions during treatment partially mediated the effect of cognitive behavioural therapy on physical health one year after treatment (sum of indirect effects 1.556, BCa 95% CI (0.006; 3.620)). Improving perceived control was particularly important. Changes in illness perceptions from baseline to 16 months after randomisation were associated with clinically meaningful improvements in physical health, somatic symptoms and illness worry during the same period. Our results suggest that changing patients' illness perceptions is an important process in cognitive behavioural therapy for functional somatic syndromes. Challenging patients' own understanding of their illness may hence be a key element of successful treatment. Copyright © 2014 Elsevier Inc. All rights reserved.

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

PubMed Central

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

2009-01-01

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

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

PubMed

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

2009-03-27

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

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

PubMed Central

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

PubMed

Hill, Elizabeth A

2016-12-01

Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

Pulsed Vincristine Therapy in Steroid-Resistant Nephrotic Syndrome

PubMed Central

Thalgahagoda, Shenal; Abeyagunawardena, Shamali; Jayaweera, Heshan; Karunadasa, Umeshi Ishanthika

2017-01-01

Steroid-resistant nephrotic syndrome (SRNS) poses a therapeutic challenge for the paediatric nephrologist. As relentless progression to renal failure occurs with continued proteinuria, such patients will be treated with different cytotoxic medications with variable success rates and side-effects. We present here our findings on administering the anticancer drug vincristine for SRNS patients at a single centre in Sri Lanka. Methods. Between 2002 and 2007, fifty-four children presenting with steroid and cyclophosphamide resistance were treated with vincristine at 1.5 mg/m2 in weekly intravenous pulses for 8 weeks along with a tapering steroid regimen of 6 months. All patients were closely followed up for 5 years. Results. Of the 54 patients 39 were males and 15 were females (age range 3.5–11.6 years, median 6.1 years). At the end of the treatment course, 21 patients achieved complete remission while 7 had partial remission and no response was seen in 26 patients. Sustained remission at 6, 12, 24, and 60 months were 15 (27.78%), 11 (20.37%), 9 (16.67%), and 7 (12.96%), respectively. Most side-effects observed were reversible and no serious side-effects were noted during vincristine therapy. Conclusion. Although its therapeutic mechanisms in nephrotic syndrome are still not elucidated, vincristine appears to be a potent alternative that could be considered for treating SRNS. PMID:28630858

Consensus recommendations for the treatment of basal cell carcinomas in Gorlin syndrome with topical methylaminolaevulinate-photodynamic therapy.

PubMed

Basset-Seguin, N; Bissonnette, R; Girard, C; Haedersdal, M; Lear, J T; Paul, C; Piaserico, S

2014-05-01

Patients with Gorlin syndrome develop multiple basal cell carcinomas (BCC), for which treatment is often difficult. Methylaminolevulinate-photodynamic therapy (MAL-PDT) is approved for the treatment of superficial and nodular BCCs in Canada and several European countries. To establish consensus recommendations for the use of MAL-PDT in patients with Gorlin syndrome. The Gorlin consensus panel was comprised of 7 dermatologists who had treated a total of 83 patients with Gorlin syndrome using MAL-PDT. Consensus was developed based on the personal experience of the expert and results of literature review (on PUBMED using the keywords 'MAL' and 'PDT' and 'Gorlin' or 'naevoid basal cell carcinoma syndrome'). Consensus was reached among the experts and the literature review identified 9 relevant reports. The experts considered MAL-PDT a generally effective and safe therapy for treatment of BCC in Gorlin syndrome. For superficial BCC (sBCC), all sizes can be treated, and in nodular BCC (nBCC), better efficacy can be achieved in thinner lesions (<2 mm in thickness). MAL-PDT treatment schedule should be performed according to labelling although in individual cases, it may be adapted and performed on a monthly basis based on clinical assessment. Follow-up should be related to frequency of recurrence, and severity, number and location of lesions. Multiple lesions and large areas may be treated during the same session; however, adequate pain management should be considered. MAL-PDT is safe and effective in patients with Gorlin syndrome. Utilization of these recommendations may improve efficacy and clearance rates in this population. © 2013 The Authors Journal of the European Academy of Dermatology and Venereology © 2013 European Academy of Dermatology and Venereology.

Effectiveness of manual therapy versus surgery in pain processing due to carpal tunnel syndrome: A randomized clinical trial.

PubMed

Fernández-de-Las-Peñas, C; Cleland, J; Palacios-Ceña, M; Fuensalida-Novo, S; Alonso-Blanco, C; Pareja, J A; Alburquerque-Sendín, F

2017-08-01

People with carpal tunnel syndrome (CTS) exhibit widespread pressure pain and thermal pain hypersensitivity as a manifestation of central sensitization. The aim of our study was to compare the effectiveness of manual therapy versus surgery for improving pain and nociceptive gain processing in people with CTS. The trial was conducted at a local regional Hospital in Madrid, Spain from August 2014 to February 2015. In this randomized parallel-group, blinded, clinical trial, 100 women with CTS were randomly allocated to either manual therapy (n = 50), who received three sessions (once/week) of manual therapies including desensitization manoeuvres of the central nervous system, or surgical intervention (n = 50) group. Outcomes including pressure pain thresholds (PPT), thermal pain thresholds (HPT or CPT), and pain intensity which were assessed at baseline, and 3, 6, 9 and 12 months after the intervention by an assessor unaware of group assignment. Analysis was by intention to treat with mixed ANCOVAs adjusted for baseline scores. At 12 months, 95 women completed the follow-up. Patients receiving manual therapy exhibited higher increases in PPT over the carpal tunnel at 3, 6 and 9 months (all, p < 0.01) and higher decrease of pain intensity at 3 month follow-up (p < 0.001) than those receiving surgery. No significant differences were observed between groups for the remaining outcomes. Manual therapy and surgery have similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with CTS. Neither manual therapy nor surgery resulted in changes in thermal pain sensitivity. The current study found that manual therapy and surgery exhibited similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with carpal tunnel syndrome at medium- and long-term follow-ups investigating changes in nociceptive gain processing after treatment in carpal tunnel syndrome. © 2017 European Pain Federation - EFIC®.

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

ERIC Educational Resources Information Center

Pienaar, Dorothea

2012-01-01

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

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

PubMed

Gattermann, Norbert

2007-12-01

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

Epigenetic regulation in myelodysplastic syndromes: implications for therapy.

PubMed

Vigna, Ernesto; Recchia, Anna Grazia; Madeo, Antonio; Gentile, Massimo; Bossio, Sabrina; Mazzone, Carla; Lucia, Eugenio; Morabito, Lucio; Gigliotti, Vincenzo; Stefano, Laura De; Caruso, Nadia; Servillo, Pasquale; Franzese, Stefania; Fimognari, Filippo; Bisconte, Maria Grazia; Gentile, Carlo; Morabito, Fortunato

2011-04-01

Myelodysplastic syndromes (MDS), characterized by ineffective hematopoiesis and dysplasia in one or more lineages, produce life-threatening cytopenias and progress to acute myeloid leukemia (AML). Growing evidence suggests that targeting epigenetic mechanisms improves MDS/AML pathophysiology. This review provides an understanding of studies investigating novel agents published up to January 2011 aimed at normalizing and monitoring the epigenetic profile of the MDS cancer cell. The authors discuss how non-intensive epigenetic therapy can 're-programme' gene expression patterns of abnormal hematopoiesis in MDS. Recently FDA-approved DNA-methyltransferase inhibitors, 5-azacytidine and 5-aza-2'-deoxycytidine or decitabine, represent frontline nonablative treatments, while combinations with histone deacetylase inhibitors show promising synergism in preclinical and Phase I/II trials in tumor suppressor gene re-expression and overall survival. Additional epigenetic mechanisms including non-encoding transcripts with inhibitory posttranscriptional regulatory functions, such as microRNAs, though not fully understood, present novel molecular and clinical implications in these disorders. Alongside current single-agent epigenetic regimens, combination therapies represent potentially effective options for intermediate-2 and high-risk MDS. Methylation profiles and gene mutation predictors provide promising areas of development for monitoring MDS disease progression and outcome, while targeting microRNA dysregulation represents an important therapeutic goal.

Cognitive-behavioral therapy for somatization and symptom syndromes: a critical review of controlled clinical trials.

PubMed

Kroenke, K; Swindle, R

2000-01-01

Few treatments for somatization have been proven effective. In the past decade, however, clinical trials of cognitive-behavioral therapy (CBT) have been promising. Our aim was to critically review and synthesize the evidence from these trials. A search of the Medline database from 1966 through July 1999 was conducted to identify controlled trials designed to evaluate the efficacy of CBT in patients with somatization or symptom syndromes. A total of 31 controlled trials (29 randomized and 2 nonrandomized) were identified. Twenty-five studies targeted a specific syndrome (e.g. chronic fatigue, irritable bowel, pain) while 6 focused on more general somatization or hypochondriasis. Primary outcome assessment included physical symptoms, psychological distress and functional status in 28, 26 and 19 studies, respectively. Physical symptoms appeared the most responsive: CBT-treated patients improved more than control subjects in 71% of the studies and showed possibly greater improvement (i.e., a trend) in another 11% of the studies. A definite or possible advantage of CBT for reducing psychological distress was demonstrated in only 38 and 8% of studies, and for improving functional status in 47 and 26%. Group therapy and interventions as brief as 5 sessions proved efficacious. Benefits were sustained for up to 12 months. CBT can be an effective treatment for patients with somatization or symptom syndromes. Benefits can occur whether or not psychological distress is ameliorated. Since chronic symptoms are exceptionally common and most studies were conducted in referral populations, the optimal sequencing of CBT in treating primary care patients and the identification of those most likely to accept and respond to therapy should be further evaluated. Copyright 2000 S. Karger AG, Basel.

[Efficacy of ivabradine in combination therapy for complicated acute coronary syndrome in patients with type 2 diabetes mellitus].

PubMed

Kondrat'ev, A I; Dolgikh, V T; Stotskiĭ, A O

2010-01-01

To study the effect of ivabradine (coraxan, Servier) as part of combination therapy on the clinical manifestations of acute left ventricular failure (ALVF) in Braunwald class II-IIIB unstable angina in patients with type 2 diabetes mellitus (T2DM). Thirty-six T2DM patients (mean age 56 + 4.3 years) with a diagnosis of acute coronary syndrome were examined. Eighteen healthy individuals were examined as an age- and gender-matched control group. Metabolic, hemodynamic, and electrophysiological parameters were studied in all the patients on hospital stay days I and S. Ivabradine used in combination therapy for unstable angina caused reductions in the clinical manifestations of ALVF, heart rate, the number of myocardial ischemic episodes. In the ivabradine-treated patients, left ventricular ejection fraction showed a significant trend for increase. No adverse reactions were recorded. Ivabradine therapy demonstrated antiischemic and antianginal efficiencies and a good tolerability, without leading to the development of tolerance and without being followed by the development of the withdrawal syndrome.

Long-term low-dose glucocorticoid therapy associated with remission of overt renal tubular acidosis in Sjögren's syndrome.

PubMed

el-Mallakh, R S; Bryan, R K; Masi, A T; Kelly, C E; Rakowski, K J

1985-10-01

Renal tubular acidosis and focal interstitial inflammatory cell infiltrate secondary to Sjögren's syndrome remitted with low-dose glucocorticoid therapy over five and one half years in a patient with associated mild systemic lupus erythematosus. Such response has not been previously documented. This observation may have therapeutic applications for renal tubular acidosis associated with Sjögren's syndrome that deserve further investigation.

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

The role of free fatty acids in the inflammatory and cardiometabolic profile in adolescents with metabolic syndrome engaged in interdisciplinary therapy.

PubMed

Masquio, Deborah Cristina Landi; de Piano-Ganen, Aline; Oyama, Lila Missae; Campos, Raquel Munhoz da Silveira; Santamarina, Aline Boveto; de Souza, Gabriel Inácio de Morais Honorato; Gomes, Aline Dal'Olio; Moreira, Renata Guimarães; Corgosinho, Flávia Campos; do Nascimento, Claudia Maria Oller; Tock, Lian; Tufik, Sergio; de Mello, Marco Túlio; Dâmaso, Ana R

2016-07-01

The purpose of the present study was to evaluate if interdisciplinary therapy can influence the cardiometabolic and serum free fatty acid profile. The second aim was to evaluate if there is an association between serum free fatty acids, inflammation and cardiometabolic biomarkers in obese adolescents with and without metabolic syndrome submitted to a long-term interdisciplinary therapy. The study involved 108 postpuberty obese adolescents, who were divided according to metabolic syndrome (MetS) diagnosis: MetS (n=32) and Non-MetS (n=76). The interdisciplinary therapy consisted of a 1-year period of nutrition, psychology, physical exercise and clinical support. After therapy, both groups improved metabolic, inflammatory (leptin, adiponectin, leptin/adiponectin ratio, adiponectin/leptin ratio and C-reactive protein) and cardiometabolic profile (PAI-1 and ICAM). Metabolic syndrome prevalence reduced from 28.70% to 12.96%. Both groups reduced myristic acid (C14:0) and increased docosahexaenoic acid (DHA, C22:6n3), heneicosapentaenoic acid (HPA, C21:5n3) and arachidonic acid (C20:4n6). After adjustment for metabolic syndrome and the number of metabolic syndrome parameters, multiple regression analysis showed that changes in VCAM and PAI-1 were negatively associated with changes in cis-linoleic acid (C18:2n6c). Additionally, changes in trans-linoleic acid (C18:2n6t) were also positively associated with these biomarkers. Moreover, leptin and leptin/adiponectin ratio were negatively associated with changes in docosapentaenoic acid (DPA, C22:5n3) and stearidonic acid (SDA, C18:4n3). Adiponectin/leptin ratio was positively associated with docosapentaenoic acid (DPA, C22:5n3). Changes in adiponectin were positively correlated with changes in omega 3, such as heneicosapentaenoic acid (HPA, C21:5n3) and docosapentaenoic acid (DPA, C22:5n3). Results support that interdisciplinary therapy can control inflammatory and cardiometabolic profile in obese adolescents. Moreover, serum

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. Copyright© Ferrata Storti Foundation.

The effect of polarized polychromatic noncoherent light (bioptron) therapy on patients with carpal tunnel syndrome.

PubMed

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

2014-01-01

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

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

PubMed Central

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

2014-01-01

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

Exercise therapy for chronic fatigue syndrome.

PubMed

Larun, Lillebeth; Brurberg, Kjetil G; Odgaard-Jensen, Jan; Price, Jonathan R

2015-02-10

Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control.• Exercise therapy versus 'passive control' (e.g. treatment as usual, waiting-list control, relaxation, flexibility).• Exercise therapy versus other active treatment (e.g. cognitive-behavioural therapy (CBT), cognitive treatment, supportive therapy, pacing, pharmacological therapy such as antidepressants).• Exercise therapy in combination with other specified treatment strategies versus other specified treatment strategies (e.g. exercise combined with pharmacological treatment vs pharmacological treatment alone). We searched The Cochrane Collaboration Depression, Anxiety and Neurosis Controlled Trials Register (CCDANCTR), the Cochrane Central Register of Controlled Trials (CENTRAL) and SPORTDiscus up to May 2014 using a comprehensive list of free-text terms for CFS and exercise. We located unpublished or ongoing trials through the World Health Organization (WHO) International Clinical Trials Registry Platform (to May 2014). We screened reference lists of retrieved articles and contacted experts in the field for additional studies Randomised controlled trials involving adults with a primary diagnosis of CFS who were able to participate in exercise therapy. Studies had to compare exercise therapy with passive control, psychological therapies, adaptive pacing therapy or pharmacological therapy. Two review authors independently performed study selection, risk of bias assessments and data extraction. We combined continuous

Exercise therapy for chronic fatigue syndrome.

PubMed

Larun, Lillebeth; Brurberg, Kjetil G; Odgaard-Jensen, Jan; Price, Jonathan R

2016-02-07

Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control.• Exercise therapy versus 'passive control' (e.g. treatment as usual, waiting-list control, relaxation, flexibility).• Exercise therapy versus other active treatment (e.g. cognitive-behavioural therapy (CBT), cognitive treatment, supportive therapy, pacing, pharmacological therapy such as antidepressants).• Exercise therapy in combination with other specified treatment strategies versus other specified treatment strategies (e.g. exercise combined with pharmacological treatment vs pharmacological treatment alone). We searched The Cochrane Collaboration Depression, Anxiety and Neurosis Controlled Trials Register (CCDANCTR), the Cochrane Central Register of Controlled Trials (CENTRAL) and SPORTDiscus up to May 2014 using a comprehensive list of free-text terms for CFS and exercise. We located unpublished or ongoing trials through the World Health Organization (WHO) International Clinical Trials Registry Platform (to May 2014). We screened reference lists of retrieved articles and contacted experts in the field for additional studies Randomised controlled trials involving adults with a primary diagnosis of CFS who were able to participate in exercise therapy. Studies had to compare exercise therapy with passive control, psychological therapies, adaptive pacing therapy or pharmacological therapy. Two review authors independently performed study selection, risk of bias assessments and data extraction. We combined continuous

Exercise therapy for chronic fatigue syndrome.

PubMed

Larun, Lillebeth; Brurberg, Kjetil G; Odgaard-Jensen, Jan; Price, Jonathan R

2016-12-20

Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control.• Exercise therapy versus 'passive control' (e.g. treatment as usual, waiting-list control, relaxation, flexibility).• Exercise therapy versus other active treatment (e.g. cognitive-behavioural therapy (CBT), cognitive treatment, supportive therapy, pacing, pharmacological therapy such as antidepressants).• Exercise therapy in combination with other specified treatment strategies versus other specified treatment strategies (e.g. exercise combined with pharmacological treatment vs pharmacological treatment alone). We searched The Cochrane Collaboration Depression, Anxiety and Neurosis Controlled Trials Register (CCDANCTR), the Cochrane Central Register of Controlled Trials (CENTRAL) and SPORTDiscus up to May 2014 using a comprehensive list of free-text terms for CFS and exercise. We located unpublished or ongoing trials through the World Health Organization (WHO) International Clinical Trials Registry Platform (to May 2014). We screened reference lists of retrieved articles and contacted experts in the field for additional studies SELECTION CRITERIA: Randomised controlled trials involving adults with a primary diagnosis of CFS who were able to participate in exercise therapy. Studies had to compare exercise therapy with passive control, psychological therapies, adaptive pacing therapy or pharmacological therapy. Two review authors independently performed study selection, risk of bias assessments and data extraction. We

Exercise therapy for chronic fatigue syndrome.

PubMed

Larun, Lillebeth; Brurberg, Kjetil G; Odgaard-Jensen, Jan; Price, Jonathan R

2016-06-24

Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control.• Exercise therapy versus 'passive control' (e.g. treatment as usual, waiting-list control, relaxation, flexibility).• Exercise therapy versus other active treatment (e.g. cognitive-behavioural therapy (CBT), cognitive treatment, supportive therapy, pacing, pharmacological therapy such as antidepressants).• Exercise therapy in combination with other specified treatment strategies versus other specified treatment strategies (e.g. exercise combined with pharmacological treatment vs pharmacological treatment alone). We searched The Cochrane Collaboration Depression, Anxiety and Neurosis Controlled Trials Register (CCDANCTR), the Cochrane Central Register of Controlled Trials (CENTRAL) and SPORTDiscus up to May 2014 using a comprehensive list of free-text terms for CFS and exercise. We located unpublished or ongoing trials through the World Health Organization (WHO) International Clinical Trials Registry Platform (to May 2014). We screened reference lists of retrieved articles and contacted experts in the field for additional studies Randomised controlled trials involving adults with a primary diagnosis of CFS who were able to participate in exercise therapy. Studies had to compare exercise therapy with passive control, psychological therapies, adaptive pacing therapy or pharmacological therapy. Two review authors independently performed study selection, risk of bias assessments and data extraction. We combined continuous

Exercise therapy for chronic fatigue syndrome.

PubMed

Larun, Lillebeth; Brurberg, Kjetil G; Odgaard-Jensen, Jan; Price, Jonathan R

2017-04-25

Chronic fatigue syndrome (CFS) is characterised by persistent, medically unexplained fatigue, as well as symptoms such as musculoskeletal pain, sleep disturbance, headaches and impaired concentration and short-term memory. CFS presents as a common, debilitating and serious health problem. Treatment may include physical interventions, such as exercise therapy, which was last reviewed in 2004. The objective of this review was to determine the effects of exercise therapy (ET) for patients with CFS as compared with any other intervention or control.• Exercise therapy versus 'passive control' (e.g. treatment as usual, waiting-list control, relaxation, flexibility).• Exercise therapy versus other active treatment (e.g. cognitive-behavioural therapy (CBT), cognitive treatment, supportive therapy, pacing, pharmacological therapy such as antidepressants).• Exercise therapy in combination with other specified treatment strategies versus other specified treatment strategies (e.g. exercise combined with pharmacological treatment vs pharmacological treatment alone). We searched The Cochrane Collaboration Depression, Anxiety and Neurosis Controlled Trials Register (CCDANCTR), the Cochrane Central Register of Controlled Trials (CENTRAL) and SPORTDiscus up to May 2014 using a comprehensive list of free-text terms for CFS and exercise. We located unpublished or ongoing trials through the World Health Organization (WHO) International Clinical Trials Registry Platform (to May 2014). We screened reference lists of retrieved articles and contacted experts in the field for additional studies SELECTION CRITERIA: Randomised controlled trials involving adults with a primary diagnosis of CFS who were able to participate in exercise therapy. Studies had to compare exercise therapy with passive control, psychological therapies, adaptive pacing therapy or pharmacological therapy. Two review authors independently performed study selection, risk of bias assessments and data extraction. We

Acute coronary syndrome caused by coronary vasospasms associated with Churg-Strauss syndrome: effects of betamethasone therapy.

PubMed

Suzuki, Yuji; Nishiyama, Osamu; Sakai, Toshiaki; Niiyama, Masanobu; Itoh, Tomonori; Nakamura, Motoyuki

2014-01-01

A 42-year-old woman with a history of aspirin-induced asthma was admitted with severe chest pain. Emergency coronary angiography revealed coronary artery spasms. The administration of vasodilators did not suppress the anginal symptoms, and the differential white blood cell count continued to show eosinophilia. The patient's symptoms of aspirin-induced asthma, eosinophilia and other allergic states led to the diagnosis of Churg-Strauss syndrome (CSS). After starting betamethasone therapy, the eosinophilia and cardiac symptoms rapidly disappeared. Although coronary vasospasms related to CSS are rare, the present case suggests that a differential white blood cell count should be obtained in patients with refractory coronary vasospasms.

[Obstructive sleep apnea syndrome in the setting of Gorlin-Goltz syndrome].

PubMed

Grundig, H; Sinikovic, B; Günther, J; Jungehülsing, M

2013-09-01

Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.

Combined therapy of dietary fish oil and stearoyl-CoA desaturase 1 inhibition prevents the metabolic syndrome and atherosclerosis.

PubMed

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

2010-01-01

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. LDLr(-/-), ApoB(100/100) 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. 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.

The post-pulmonary infarction syndrome.

PubMed

Sklaroff, H J

1979-12-01

Following pulmonary infarction, three patients developed the classical signs and symptoms of the Dressler syndrome associated with persistent left pleural effusion. Each responded dramatically to corticosteroid therapy. While the pathogenesis of this "Post-Pulmonary Infarction syndrome," like the Dressler syndrome, is unclear, the response to corticosteroid therapy is both dramatic and diagnostic and may spare the patient prolonged discomfort and unnecessary diagnostic procedures.

Cerebral fat embolism syndrome causing brain death after long-bone fractures and acetazolamide therapy.

PubMed

Walshe, Criona M; Cooper, James D; Kossmann, Thomas; Hayes, Ivan; Iles, Linda

2007-06-01

A 19-year-old woman with multiple fractures and mild brain injury developed severe cerebral fat embolism syndrome after "damage control" orthopaedic surgery. Acetazolamide therapy to manage ocular trauma, in association with hyperchloraemia, caused a profound metabolic acidosis with appropriate compensatory hypocapnia. During ventilator weaning, unexpected brainstem coning followed increased sedation and brief normalisation of arterial carbon dioxide concentration. Autopsy found severe cerebral fat embolism and brain oedema. In patients with multiple trauma, cerebral fat embolism syndrome is difficult to diagnose, and may be more common after delayed fixation of long-bone fractures. Acetazolamide should be used with caution, as sudden restoration of normocapnia during compensated metabolic acidosis in patients with raised intracranial pressure may precipitate coning.

Remarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome

PubMed Central

Bashford, James A; Chowdhury, Fahmida A; Shaw, Chris E

2017-01-01

The clinical diagnosis of Brown—Vialetto—Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition. Early diagnosis and empirical riboflavin therapy can lead to major motor recovery in this condition, that can be sustained with long-term maintenance therapy. PMID:27777325

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…

"Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

PubMed

D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

2011-01-01

Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

[Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

PubMed

Krönauer, T; Friederich, P

2015-08-01

The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

Novel nutraceutic therapies for the treatment of metabolic syndrome

PubMed Central

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

2016-01-01

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

Systemic therapy of Cushing’s syndrome

PubMed Central

2014-01-01

Cushing’s disease (CD) in a stricter sense derives from pathologic adrenocorticotropic hormone (ACTH) secretion usually triggered by micro- or macroadenoma of the pituitary gland. It is, thus, a form of secondary hypercortisolism. In contrast, Cushing’s syndrome (CS) describes the complexity of clinical consequences triggered by excessive cortisol blood levels over extended periods of time irrespective of their origin. CS is a rare disease according to the European orphan regulation affecting not more than 5/10,000 persons in Europe. CD most commonly affects adults aged 20–50 years with a marked female preponderance (1:5 ratio of male vs. female). Patient presentation and clinical symptoms substantially vary depending on duration and plasma levels of cortisol. In 80% of cases CS is ACTH-dependent and in 20% of cases it is ACTH-independent, respectively. Endogenous CS usually is a result of a pituitary tumor. Clinical manifestation of CS, apart from corticotropin-releasing hormone (CRH-), ACTH-, and cortisol-producing (malign and benign) tumors may also be by exogenous glucocorticoid intake. Diagnosis of hypercortisolism (irrespective of its origin) comprises the following: Complete blood count including serum electrolytes, blood sugar etc., urinary free cortisol (UFC) from 24 h-urine sampling and circadian profile of plasma cortisol, plasma ACTH, dehydroepiandrosterone, testosterone itself, and urine steroid profile, Low-Dose-Dexamethasone-Test, High-Dose-Dexamethasone-Test, after endocrine diagnostic tests: magnetic resonance imaging (MRI), ultra-sound, computer tomography (CT) and other localization diagnostics. First-line therapy is trans-sphenoidal surgery (TSS) of the pituitary adenoma (in case of ACTH-producing tumors). In patients not amenable for surgery radiotherapy remains an option. Pharmacological therapy applies when these two options are not amenable or refused. In cases when pharmacological therapy becomes necessary, Pasireotide should be used

Posttraumatic impingement syndrome of the ankle--indication and results of arthroscopic therapy.

PubMed

Arnold, Heino

2011-06-01

Persisting pain after an ankle sprain is often caused by the development of intraarticular fibrous scars or even tibiotalar spurs due to repetitive trauma. This may result in a posttraumatic impingement syndrome of the ankle. Pain is typically provoked by dorsiflexion of the ankle and palpation of the tibiotalar anterior joint space. The study evaluates the outcome of arthroscopic treatment of the ankle impingement syndrome. 32 patients are included (16-65 years, mean age 38 years) who underwent an arthroscopic operation because of an impingement syndrome of the ankle grades I-III (Scranton) due to a trauma without therapeutic response to conservative therapy over 3 months. Diagnostic criteria were palpatoric anterior ankle joint pain and pain provoked by dorsiflexion, in cases of grades II and III lesions spurs on the X-ray as well. The mean follow-up time was 49 months. The evaluation of the results was done with the West Point Ankle Score. The study is designed as a retrospective case series. 26 patients reached more than 80 points in the West Point Ankle Score corresponding to a good or excellent result (mean result 86 points, ranging from 80 to 98 points). The preoperative mean score reached up to 64 points overall (57-70). Five patients rated the postoperative result fair, one bad with 73 points at mean (62-78). Preoperatively they reached 56 point on an average (48-62). The fair and the poor results were associated with severe ankle sprain leading to ligament ruptures or fractures where severe chondral lesions were to be found with arthroscopy. The results of the study show that ankle arthroscopy with resection of hypertrophic synovium and fibrous bands (type I) or tibial spurs (types II and III injuries) after an ankle sprain haven proven to be a reliable therapy for a posttraumatic impingement syndrome of the ankle that does not respond to conservative treatment. It is characterized by low morbidity and good to excellent results in most cases. The outcome

Acute hypophosphataemia and hypokalaemia in a patient starting antiretroviral therapy in Zambia—a new context for refeeding syndrome?

PubMed Central

Nyirenda, Christopher; Zulu, Isaac; Kabagambe, Edmond K; Bagchi, Shashwatee; Potter, Dara; Bosire, Claire; Krishnasami, Zipporah; Heimburger, Douglas C

2009-01-01

High mortality rates have been reported in the first 90 days of antiretroviral therapy in Zambia and other low-income countries. We report a case of acute hypophosphataemia and hypokalaemia in the first week of antiretroviral therapy in a patient with extreme AIDS wasting. Given its occurrence in an extremely wasted patient, it may be physiologically similar to refeeding syndrome but other causes could be relevant as well. Acute hypophosphataemia may contribute to early antiretroviral therapy associated mortality in low-income countries. PMID:21686792

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

ERIC Educational Resources Information Center

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

2008-01-01

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

Syndromic Disorders with Short Stature

PubMed Central

Şıklar, Zeynep; Berberoğlu, Merih

2014-01-01

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

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

Advances in antiplatelet therapy for acute coronary syndromes.

PubMed

Contractor, Hussain; Ruparelia, Neil

2012-07-01

Admissions to emergency care centres with acute coronary syndromes remain one of the principal burdens on healthcare systems in the Western world. Early pharmacological treatment in these patients is crucial, lessening the impact on both morbidity and mortality, with the cornerstone of management being antiplatelet agents. While aspirin and clopidogrel have been the drugs of choice for nearly a decade, an array of newer, more potent antiplatelet agents are now available or in late stage development. Data are rapidly gathering suggesting these agents have superior anti-ischaemic properties, improving patient outcomes, but that for some agents increased vigilance and appropriate patient selection may be necessary to guard against bleeding complications. In this review, the authors aim to deliver an overview of the changing field of antiplatelet therapy and provide information about the relative risks and benefits of these newer agents, many of which will be entering widespread clinical use imminently.

Effect of Rational-Emotive Behavior Therapy Program on the Symptoms of Burnout Syndrome Among Undergraduate Electronics Work Students in Nigeria.

PubMed

Ogbuanya, Theresa C; Eseadi, Chiedu; Orji, Chibueze T; Omeje, Joachim C; Anyanwu, Joy I; Ugwoke, Samuel C; Edeh, Nkechinyere C

2018-01-01

This research aimed to investigate the effect that rational-emotive behavior therapy had on the symptoms of burnout among undergraduate electronics work students in Southeast Nigeria. This study utilized a pretest-posttest design involving a no-intervention group versus an intervention group. Participants were 124 undergraduate electronics work students who met the inclusion criteria of the study. The intervention consisted of 12 weeks of rational-emotive behavior therapy treatment and 2 weeks of follow-up meetings conducted at 6 months. Self-report questionnaire was used for data collection. Repeated measures analysis of variance and t test were used for data analysis. The results show that rational-emotive behavior therapy had a significant effect on the symptoms of burnout syndrome among the electronics work students in the treatment group compared to their counterparts in the no-intervention group. Finally, the positive gains were significantly maintained by the treatment group at the follow-up. The current study suggests that rational-emotive behavior therapy program can be effective for dealing with burnout syndrome among the population of undergraduates in Nigeria. Further clinical evaluation is needed.

Tourette syndrome

MedlinePlus

... had many motor tics and 1 or more vocal tics, although these tics may not have occurred ... symptoms of Tourette syndrome. A type of talk therapy (coginitive behavioral therapy) called habit-reversal may help ...

Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis.

PubMed

Cintron, Dahima; Rodriguez-Gutierrez, Rene; Serrano, Valentina; Latortue-Albino, Paula; Erwin, Patricia J; Murad, Mohammad Hassan

2017-02-01

Patients with Turner syndrome have adverse bone and cardiovascular outcomes from chronic estrogen deficiency. Hence, long-term estrogen replacement therapy is the cornerstone treatment. The estimates of its effect and optimal use, however, remain uncertain. We aimed to summarize the benefits and harms of estrogen replacement therapy on bone, cardiovascular, vasomotor and quality of life outcomes in patients with Turner syndrome. A comprehensive search of four databases was performed from inception through January 2016. Randomized clinical trials and observational cohort studies studying the effect of estrogen replacement therapy in patients with Turner syndrome under the age of 40 were included. Independently and in duplicate reviewers selected studies, extracted data and assessed risk of bias. Subgroup analyses were based on route of administration and type of estrogen formulation. Twenty-five studies at moderate to high risk of bias (12 randomized trials, 13 cohort studies) with 771 patients were included. Using random-effects models, estrogen replacement therapy showed an increase in bone mineral density [weighted mean change from baseline 0.09 g/cm2 (0.04-0.14)] that differed by type of estrogen but not route of administration. Oral estrogen replacement therapy showed a higher increase in high density lipoprotein cholesterol levels when compared to transdermal [weighted mean difference 9.33 mg/dl (4.82-13.85)] with no significant effect on other lipid fractions. The current evidence suggests possible benefit of estrogen replacement therapy on bone mineral density and high density lipoprotein cholesterol. Whether this improvement translates into changes in patient important outcomes (cardiovascular events or fractures) remains uncertain. Larger randomized clinical trials with direct comparisons on patient important outcomes are necessary.

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

PubMed

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.

Effect of metformin and spironolactone therapy on OGTT in patients with polycystic ovarian syndrome - a retrospective analysis.

PubMed

Kulshreshtha, Bindu; Gupta, Nandita; Ganie, Mohd Ashraf; Ammini, Ariachery C

2012-10-01

Metformin (an insulin sensitizer) and spironolactone (an antiandrogen) are both used for treatment of polycystic ovary syndrome. We analyzed the effect of 6 months of therapy with these drugs on body weight and glucose tolerance. This was a retrospective analysis of polycystic ovarian syndrome (PCOS) cases on treatment. There were 88 patients with PCOS-42 were on metformin 1 g daily and 46 were taking spironolactone 50-75 mg daily. 21 of 42 had abnormal glucose tolerance (AGT) in the metformin group and 13 of 46 had AGT in the spironolactone group. Patients on metformin reported a greater reduction in body weight, whereas there was no change in body weight with spironolactone therapy (67.6-63.7 versus 59.6-59.2 kg). There was a significant reduction in the 1 and 2 h glucose and insulin levels with metformin therapy in those with AGT. However, fasting glucose increased in those with normal glucose tolerance. There was no change in either body weight or insulin levels with spironolactone. But, there was a significant reduction in both the 0 and 2 h glucose with spironolactone also in those with AGT. Spironolactone and metformin had similar effect in reducing the glucose levels in PCOS patients with AGT. PCOS patients with normal glucose tolerance had higher fasting plasma glucose at the end of 6 months of metformin therapy inspite of weight reduction.

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

PubMed Central

2014-01-01

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

Emerging therapies to treat frailty syndrome in the elderly.

PubMed

Cherniack, E Paul; Florez, Hermes J; Troen, Bruce R

2007-09-01

Frailty syndrome (FS) has become increasingly recognized as a major predictor of co-morbidities and mortality in older individuals. Interventions with the potential to benefit frail elders include nutritional supplementation (vitamins D, carotenoids, creatine, dehydroepiandrosterone (DHEA), and beta-hydroxy-beta-methylbutyrate) and exercise modalities (tai chi and cobblestone walking). While these have not been explicitly tested for their impact on FS, vitamin D supplementation appears to offer significant promise in enhancing long-term health of the elderly. Exercise modalities such as tai chi and cobblestone walking, because of probable low risk and ease of participation, may also confer benefit. Additional studies are needed to investigate interventions that directly prevent, delay, and/or ameliorate frailty. Successful therapies may well involve multi-component approaches utilizing a combination of medication, nutritional supplementation, and exercise.

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

PubMed Central

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

2010-01-01

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

Therapy strategies for Usher syndrome Type 1C in the retina.

PubMed

Nagel-Wolfrum, Kerstin; Baasov, Timor; Wolfrum, Uwe

2014-01-01

The Usher syndrome (USH) is the most common form of inherited deaf-blindness with a prevalence of ~ 1/6,000. Three clinical subtypes (USH1-USH3) are defined according to the severity of the hearing impairment, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). USH1 is the most severe subtype with congenital severe to profound hearing loss and onset of RP before puberty. Currently only the amelioration of the hearing deficiency is implemented, but no treatment of the senso-neuronal degeneration in the eye exists.In our studies we are focusing on the evaluation of gene-based therapies to cure the retinal degeneration of USH1C patients: (i) gene augmentation using recombinant adeno-associated virus, (ii) genome editing by homologous recombination mediated by zinc-finger nucleases and, (iii) read-through therapy using novel designer aminoglycosides and PTC124. Latter compounds target in-frame nonsense mutations which account for ~ 20 % of all USH cases.All analyzed gene-based therapy strategies lead to the restoration of USH protein expression. These adjustments may be sufficient to reduce the progression of retinal degeneration, which would greatly improve the life quality of USH patients.

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

NASA Astrophysics Data System (ADS)

Popov, Dmitri; Maliev, Slava

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

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

PubMed

László, Andrea; Kalabay, László; Nemcsik, János

2013-02-06

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

A “burning” therapy for burning mouth syndrome: preliminary results with the administration of topical capsaicin.

PubMed

Azzi, L; Croveri, F; Pasina, L; Porrini, M; Vinci, R; Manfredini, M; Tettamanti, L; Tagliabue, A; Silvestre-Rangil, J; Spadari, F

2017-01-01

Burning mouth syndrome is defined as an intraoral burning sensation for which no medical or dental cause can be found. Recently, researchers have demonstrated an altered trophism of the small nerve fibres and alterations in the numbers of TRPV-1 vanilloid receptors. Capsaicin is a molecule that is contained in hot peppers and is specifically detected by TRPV-1 vanilloid receptors that are distributed in the oral mucosae. We aimed at verifying if topical capsaicin could prove to be an effective treatment of Burning Mouth Syndrome. A group of 99 BMS patients were recruited. We subdivided the BMS patients into two groups: the collaborative patients, who expressed a predominantly neuropathic pattern of symptoms, and the non-collaborative patients, who were characterised by stronger psychogenic patterns of the syndrome. Both groups underwent topical therapy with capsaicin in the form of a mouth rinse 3 times a day for a long period. After 1 year of treatment, the final overall success rate was approximately 78%, but with a significant difference in the success rates of the two groups of patients (87% and 20% among the collaborative and non-collaborative patients, respectively; p=0.000). The use of topical capsaicin can improve the oral discomfort of BMS patients, especially during the first month of therapy, but it is more effective for those patients in which the neuropathic component of the syndrome is predominant. Our hypothesis is that chronic stimulation with capsaicin leads to decreases in burning symptoms. This phenomenon is called desensitisation and is accompanied by substantial improvements in oral symptoms.

The metabolic syndrome in polycystic ovary syndrome.

PubMed

Essah, P A; Nestler, J E

2006-03-01

Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

Magnetic therapy is ineffective for the treatment of snoring and obstructive sleep apnea syndrome.

PubMed

Dexter, D

1997-03-01

Snoring and the obstructive sleep apnea syndrome are common and chronic ailments with potentially serious medical complications. There are several accepted treatments, but these can be uncomfortable, inconvenient, and expensive. A number of alternative treatments have been reported to be beneficial in the treatment of obstructive sleep apnea and snoring. They are advertised in magazines, on the radio and television, and on the Internet. The lay press is reporting about the effectiveness of these treatments without the benefit of clinical trials or scientific studies. Among the therapies currently being promoted for the treatment of snoring and sleep apnea is biomagnetic therapy. Unlike many of the other treatments which have not undergone scientific evaluation, biomagnetic therapy has been evaluated in the past. In fact, the evaluation of biomagnetic therapy is one of the first controlled scientific investigations found in the literature. This report showed that magnet therapy had no medicinal value. Despite this clear evidence, magnetic therapy continues to be utilized today and currently is being promoted for the treatment of snoring and sleep apnea. At out Sleep Disorder Center, we have had the opportunity to evaluate a patient with severe obstructive sleep apnea both before and after treatment with magnetic therapy, as well as with conventional therapy. Our study clearly indicates there was no benefit from magnetic therapy in this case. While alternative therapy may be helpful in the treatment of certain medical conditions, extreme care must be exercised to prevent inappropriate treatment or undertreat-ment of significant medical problems. Close clinical follow-up and controlled studies are important in determining the effectiveness of therapies.

Long-term benefit of statin therapy initiated during hospitalization for an acute coronary syndrome: a systematic review of randomized trials.

PubMed

Bavry, Anthony A; Mood, Girish R; Kumbhani, Dharam J; Borek, Peter P; Askari, Arman T; Bhatt, Deepak L

2007-01-01

This study sought to determine if the initiation of statin (HMG-CoA reductase inhibitor) therapy during acute coronary syndromes reduces long-term mortality and other adverse cardiac outcomes. Initiation of statin therapy during acute coronary syndromes has not been shown to reduce mortality, myocardial infarction or stroke within 4 months of follow-up. Clinical trials that randomized patients with acute coronary syndromes to early statin therapy compared with less intensive lipid reduction (placebo/lower-dose statin/usual care), and reported long-term outcomes were included for analysis. In all, there were seven studies (L-CAD, PTT, FLORIDA, Colivicchi et al., PROVE-IT, ESTABLISH, and A-to-Z) with 9553 patients who started statin therapy within 12 days of hospital presentation. The incidence of all-cause mortality was 3.4% in the statin group versus 4.6% in the less intensive lipid reduction group over a weighted mean follow-up of 22.9 months (relative risk [RR] 0.74; 95% CI 0.61, 0.90; p = 0.003). The number of patients needed to treat to prevent one death was 84 patients. Similarly, the incidence of cardiovascular mortality in the statin versus the less intensive lipid reduction group was 2.4% versus 3.3% (RR 0.74; 95% CI 0.58, 0.93; p = 0.010), unstable angina 4.1% versus 5.0% (RR 0.81; 95% CI 0.68, 0.98; p = 0.027), revascularization 11.2% versus 12.9% (RR 0.86; 95% CI 0.78, 0.96; p = 0.006), stroke 1.1% versus 1.2% (RR 0.90; 95% CI 0.62, 1.30; p = 0.56), and myocardial infarction 6.6% versus 7.0% (RR 0.94; 95% CI 0.81, 1.09; p = 0.41). The benefit of early initiation of statin therapy during acute coronary syndromes slowly accrues over time so that a survival advantage is seen around 24 months. Relatively few patients need to be treated to prevent one death over this time period. Furthermore, this approach significantly reduces unstable angina and the need for revascularization.

[Evidence-based therapy of polycystic ovarian syndrome].

PubMed

Gődény, Sándor; Csenteri, Orsolya Karola

2015-11-08

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

Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome.

PubMed

Bashford, James A; Chowdhury, Fahmida A; Shaw, Chris E

2017-01-01

The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition. Early diagnosis and empirical riboflavin therapy can lead to major motor recovery in this condition, that can be sustained with long-term maintenance therapy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Nelson Syndrome: Update on Therapeutic Approaches.

PubMed

Azad, Tej D; Veeravagu, Anand; Kumar, Sunny; Katznelson, Laurence

2015-06-01

To review the pathophysiology and therapeutic modalities availble for Nelson syndrome. We reviewed the current literature including managment for Nelson syndrome. For patients with NS, surgical intervention is often the first-line therapy. With refractory NS or tumors with extrasellar involvement, radiosurgery offers an important alternative or adjuvant option. Pharmacologic interventions have demonstrated limited usefulness, although recent evidence supports the feasibility of a novel somatostatin analog for patients with NS. Modern neuroimaging, improved surgical techniques, and the advent of stereotactic radiotherapy have transformed the management of NS. An up-to-date understanding of the pathophysiology underlying Nelson Syndrome and evidence-based management is imperative. Early detection may allow for more successful therapy in patients with Nelson Syndrome. Improved radiotherapeutic interventions and rapidly evolving pharmacologic therapies offer an opportunity to create targeted, multifocal treatment regiments for patients with Nelson Syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

The down syndrome behavioral phenotype: implications for practice and research in occupational therapy.

PubMed

Daunhauer, Lisa A; Fidler, Deborah J

2011-01-01

ABSTRACT Down syndrome (DS) is the most common chromosomal cause of intellectual disability. The genetic causes of DS are associated with characteristic outcomes, such as relative strengths in visual-spatial skills and relative challenges in motor planning. This profile of outcomes, called the DS behavioral phenotype, may be a critical tool for intervention planning and research in this population. In this article, aspects of the DS behavioral phenotype potentially relevant to occupational therapy practice are reviewed. Implications and challenges for etiology-informed research and practice are discussed.

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

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. 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. 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. 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

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. © The Author(s) 2014.

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

PubMed

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

2011-02-01

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

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

PubMed

Vos-Vromans, Desirée C W M; Smeets, Rob J E M; Rijnders, Leonie J M; Gorrissen, René R M; Pont, Menno; Köke, Albère J A; Hitters, Minou W M G C; Evers, Silvia M A A; Knottnerus, André J

2012-05-30

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

Mesenchymal stem cell therapy for acute radiation syndrome: innovative medical approaches in military medicine.

PubMed

Eaton, Erik B; Varney, Timothy R

2015-01-01

After a radiological or nuclear event, acute radiation syndrome (ARS) will present complex medical challenges that could involve the treatment of hundreds to thousands of patients. Current medical doctrine is based on limited clinical data and remains inadequate. Efforts to develop medical innovations that address ARS complications are unlikely to be generated by industry because of market uncertainties specific to this type of injury. A prospective strategy could be the integration of cellular therapy to meet the medical demands of ARS. The most clinically advanced cellular therapy to date is the administration of mesenchymal stem cells (MSCs). Results of currently published investigations describing MSC safety and efficacy in a variety of injury and disease models demonstrate the unique qualities of this reparative cell population in adapting to the specific requirements of the damaged tissue in which the cells integrate. This report puts forward a rationale for the further evaluation of MSC therapy to address the current unmet medical needs of ARS. We propose that the exploration of this novel therapy for the treatment of the multivariate complications of ARS could be of invaluable benefit to military medicine.

Effects of taping therapy for carpal space expansion on electrophysiological change in patients with carpal tunnel syndrome.

PubMed

Park, Yeong-Dong; Park, Yun-Jin; Park, Sang-Seo; Lee, Hae-Lim; Moon, Hyeong-Hun; Kim, Myung-Ki

2017-06-01

Taping therapy is one of the most conservative treatments for carpal tunnel syndrome (CTS). Preceding research studied on pain control, grip strength, and wrist function but no studies have been reported on electrophysiolgical changes after taping therapy. The aim of this study is to evaluate the effects of taping therapy for carpal space expansion on electrophysiological in 20 female patients aged from 40s to 60s with CTS. Experimental group applied taping therapy for carpal space expansion twice a week for 4 weeks and control group did not. There were significant differences between distal motor latency (DML) and sensory nerve conduction velocity (SNCV), but no difference between compound muscle action potential and sensory nerve action potential (SNAP) after 4 weeks taping treatment. Also, there was a significant difference in DML, SNCV, and SNAP in between groups. In conclusion, taping therapy for carpal space expansion can help to reduce the pressure of the carpal tunnel in CTS patients with mild symptoms.

Targeted therapies for diarrhea-predominant irritable bowel syndrome

PubMed Central

Olden, Kevin W

2012-01-01

Irritable bowel syndrome (IBS) causes gastrointestinal symptoms such as abdominal pain, bloating, and bowel pattern abnormalities, which compromise patients’ daily functioning. Common therapies address one or two IBS symptoms, while others offer wider symptom control, presumably by targeting pathophysiologic mechanisms of IBS. The aim of this targeted literature review was to capture clinical trial reports of agents receiving the highest recommendation (Grade 1) for treatment of IBS from the 2009 American College of Gastroenterology IBS Task Force, with an emphasis on diarrhea-predominant IBS. Literature searches in PubMed captured articles detailing randomized placebo-controlled trials in IBS/diarrhea-predominant IBS for agents receiving Grade I (strong) 2009 American College of Gastroenterology IBS Task Force recommendations: tricyclic antidepressants, nonabsorbable antibiotics, and the 5-HT3 receptor antagonist alosetron. Studies specific for constipation-predominant IBS were excluded. Tricyclic antidepressants appear to improve global IBS symptoms but have variable effects on abdominal pain and uncertain tolerability; effects on stool consistency, frequency, and urgency were not adequately assessed. Nonabsorbable antibiotics show positive effects on global symptoms, abdominal pain, bloating, and stool consistency but may be most efficacious in patients with altered intestinal microbiota. Alosetron improves global symptoms and abdominal pain and normalizes bowel irregularities, including stool frequency, consistency, and fecal urgency. Both the nonabsorbable antibiotic rifaximin and the 5-HT3 receptor antagonist alosetron improve quality of life. Targeted therapies provide more complete relief of IBS symptoms than conventional agents. Familiarization with the quantity and quality of evidence of effectiveness can facilitate more individualized treatment plans for patients with this heterogeneous disorder. PMID:22754282

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

PubMed

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

2014-12-26

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 first-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.

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

New Receptor Targets for Medical Therapy in Irritable Bowel Syndrome

PubMed Central

Camilleri, Michael

2010-01-01

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

[Present and future of antithrombotic therapy in acute coronary syndromes].

PubMed

Antman, Elliott M

2003-02-01

Antithrombotic therapy in the management of an acute coronary syndrome is designed to inhibit both the coagulation cascade and platelet activation, thus preventing the development of the pathophysiological consequences of these processes. The main therapeutic approaches used for this purpose are unfractionated heparin, low-molecular-weight heparins, or direct antithrombins, all of them being molecules that interfere with the formation of a thrombin clot. Numerous clinical studies have investigated the advantages and disadvantages of each of these strategies and the benefits and risks of combined therapy with these drugs or their association with platelet inhibitors. The difficulty of establishing the relative benefits of different therapeutic approaches is due in part to the enormous number of possible combinations and the different clinical situations in which they can be used. In addition, the need for antithrombotic agents with a more specific inhibitor activity and a broader therapeutic range is motivating active investigation in laboratories worldwide. This has lead to the design of recombinant molecules and monoclonal antibodies that interrupt the activation of the coagulation cascade in several strategically important points. The relation between the clinical benefits obtained from this new generation of molecules and the increased health care costs generated by their design and development remains to be seen.

Therapy service use among individuals with fragile X syndrome: findings from a US parent survey.

PubMed

Martin, G E; Ausderau, K K; Raspa, M; Bishop, E; Mallya, U; Bailey, D B

2013-09-01

Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined. In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined. Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age. This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

Bartter syndrome and growth hormone deficiency: three cases.

PubMed

Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

2012-11-01

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

PubMed

McWilliams, Geoffrey D; SantaCruz, Karen; Hart, Blaine; Clericuzio, Carol

2016-01-01

Noonan syndrome (NS) is an autosomal dominant developmental disorder caused by mutations in the RAS-MAPK signaling pathway that is well known for its relationship with oncogenesis. An 8.1-fold increased risk of cancer in Noonan syndrome has been reported, including childhood leukemia and solid tumors. The same study found a patient with a dysembryoplastic neuroepithelial tumor (DNET) and suggested that DNET tumors are associated with NS. Herein we report an 8-year-old boy with genetically confirmed NS and a DNET. Literature review identified eight other reports, supporting the association between NS and DNETs. The review also ascertained 13 non-DNET brain tumors in individuals with NS, bringing to 22 the total number of NS patients with brain tumors. Tumor growth while receiving growth hormone (GH) occurred in our patient and one other patient. It is unknown whether the development or progression of tumors is augmented by GH therapy, however there is concern based on epidemiological, animal and in vitro studies. This issue was addressed in a 2015 Pediatric Endocrine Society report noting there is not enough data available to assess the safety of GH therapy in children with neoplasia-predisposition syndromes. The authors recommend that GH use in children with such disorders, including NS, be undertaken with appropriate surveillance for malignancies. Our case report and literature review underscore the association of NS with CNS tumors, particularly DNET, and call attention to the recommendation that clinicians treating NS patients with GH do so with awareness of the possibility of increased neoplasia risk. © 2015 Wiley Periodicals, Inc.

The Othello Syndrome

PubMed Central

Famuyiwa, Oluwole O.; Ekpo, Micheal

1983-01-01

A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

Hantavirus pulmonary syndrome.

PubMed

Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

2010-03-01

Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

[Physiotherapy, exercise and strength training and physical therapies in the treatment of fibromyalgia syndrome].

PubMed

Schiltenwolf, M; Häuser, W; Felde, E; Flügge, C; Häfner, R; Settan, M; Offenbächer, M

2008-06-01

A guideline for the treatment and diagnostic procedures for fibromyalgia syndrome (FMS) was developed in cooperation with 10 German medical and psychological associations and 2 patient self-help groups. A systematic literature search including all controlled studies evaluating physiotherapy, exercise and strength training as well as physical therapies was performed in the Cochrane Collaboration Reviews (1993-12/2006), Medline (1980-12/2006), PsychInfo (1966-12/2006) and Scopus (1980-12/ 2006). Levels of evidence were assigned according to the classification system of the Oxford Centre for Evidence-Based Medicine. Grading of the strengths of recommendations was done according to the German program for disease management guidelines. Standardized procedures to reach a consensus on recommendations were used. Aerobic exercise training is strongly recommended (grade A) and the temporary use of whole body hyperthermia, balneotherapy and spa therapy is recommended (grade B). The significance which can be assigned to most of the studies on the various procedures for therapy is restricted due to short study duration (mean 6-12 weeks) and small sample sizes.

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

PubMed

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

2009-09-01

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

Impact of Therapy on Metabolic Syndrome in Young Adult Premenopausal Female Lupus Patients: Beneficial Effect of Antimalarials.

PubMed

Muniz, Luciana F; Pereira, Rosa M R; Silva, Thiago F; Bonfá, Eloisa; Borba, Eduardo F

2015-09-01

There are no data about the main factors associated with metabolic syndrome in young premenopausal systemic lupus erythematosus (SLE) patients. The aim of the study was to evaluate the frequency of metabolic syndrome and disease- or therapy-related factors in premenopausal young SLE patients. A total of 103 premenopausal SLE patients ages <40 years were selected and compared to 35 healthy premenopausal age-matched women. Metabolic syndrome was defined according to the 2009 Joint Interim Statement. A higher frequency of metabolic syndrome (22.3% versus 5.7%; P = 0.03) was observed in the SLE group. Metabolic syndrome-SLE patients had higher SLE Disease Activity Index scores (mean ± SD 5.9 ± 7.6 versus 1.9 ± 2.7; P = 0.006), more frequently had previous renal disease (73.9% versus 51.2%; P = 0.05) and current renal disease (34.8% versus 10.0%; P = 0.008), and had higher current prednisone dose (median [range] 20 [0-60] versus 5 [0-60] mg/dl; P = 0.018) and cumulative prednisone dose (mean ± SD 41.48 ± 27.81 versus 24.7 ± 18.66 gm; P = 0.023) than those without metabolic syndrome. Chloroquine was less frequently used in metabolic syndrome-SLE patients (65.2% versus 90.0%; P = 0.008). In multivariate analysis, only current chloroquine use (prevalence ratio [PR] 0.29, 95% confidence interval [95% CI] 0.13-0.64) and cumulative prednisone were associated with metabolic syndrome (PR 1.02, 95% CI 1.01-1.04). Further estimated prevalence analysis identified the fact that antimalarial use promoted continuous decrease in the progressive metabolic syndrome prevalence associated with glucocorticoid cumulative dose. The prevalence of metabolic syndrome is high in premenopausal young adult SLE patients. Chloroquine has a protective effect on the prevalence of metabolic syndrome in these patients, and this benefit counteracts the deleterious effect of glucocorticoids in a dose-dependent manner. © 2015, American College of

[Noninvasive alternatives to CPAP in therapy of obstructive sleep apnea syndrome].

PubMed

Fritsch, K; Bloch, K E

2000-07-01

Non-surgical treatment of the sleep apnea syndrome comprises behavioral modification such as sleep hygiene, weight reduction, and positional training as an adjunct to standard therapy with continuous positive airway pressure (CPAP) applied via a nasal mask. For patients who cannot tolerate or are not willing to use CPAP for psychological or other reasons, removable intraoral appliances that advance the mandible during sleep are a valuable treatment alternative. Randomised controlled trials have confirmed effectiveness of intraoral appliances in relieving symptoms and measured sleep and respiratory disturbances. Side effects including hypersalivation, mucosal dryness, tooth and temporo-mandibular joint discomfort are common but usually mild. To timely detect effects of oral appliances on occlusion and on the temporo-mandibular joint longterm orthodontic monitoring is advisable.

Immune reconstitution inflammatory syndrome in acquired immunodeficiency syndrome.

PubMed

Jindal, A; Duggal, L; Jain, N; Malhotra, S

2008-01-01

A 33-year-old male presented with a history of fever and cough and was diagnosed to have pulmonary tuberculosis and acquired immunodeficiency syndrome (AIDS). He was started on antituberculosis therapy (ATT) followed by highly active anti-retroviral treatment (HAART) after one week. He developed an immune reconstitution inflammatory syndrome (IRIS) leading to an exacerbation of the tuberculosis disease. After HAART was stopped his condition improved dramatically.

Age-related perception of stature, acceptance of therapy, and psychosocial functioning in human growth hormone-treated girls with Turner's syndrome.

PubMed

Lagrou, K; Xhrouet-Heinrichs, D; Heinrichs, C; Craen, M; Chanoine, J P; Malvaux, P; Bourguignon, J P

1998-05-01

This study evaluated the perception of stature, acceptance of therapy, and psychosocial functioning in relation to age at onset and time on treatment during 2 yr of GH therapy in 31 girls with Turner's syndrome grouped by age (group A: 3.7-5.8 yr, n = 9; group B: 7.2-11.8 yr, n = 13; group C: 12.5-16.4 yr, n = 9). The growth response after 2 yr was significant in the 3 groups when calculated in terms of growth norms for untreated Turner girls (mean increase in height SD score: +1.2, +1.5, and +1.1, respectively). The effect was less marked in terms of growth norms for normal girls, particularly in group B (+0.5 SD score). Height was perceived as a problem by most patients, except in the youngest girls at the start of treatment (group A) and in the majority of the adolescents after 2 yr of GH therapy (group C), without evidence of relation to growth response during therapy. The GH injections were fairly well accepted by all patients, except those younger than 6 yr. In all patients, expected adult height was unrealistic and became more realistic with age, whereas no consistent changes were observed in relation to growth response to GH therapy. The Child Behavior Checklist revealed elevated mean scores at the behavioral subscales of attention problems (group A and B), social problems, withdrawal, and anxiety-depression (most obviously in group B). No significant changes were seen during GH therapy. In group C, an elevated mean social problem score at the Youth Self Report and a low mean social self-esteem score at the Self-Esteem Inventory were observed before therapy and showed a significant improvement during 2 yr of GH treatment. These results, however, might be biased due to an increase in social desirability during therapy. We conclude that the perception of height, acceptance of GH therapy, and psychosocial functioning in girls with Turner's syndrome show important differences between age groups, with only slight changes observed during GH therapy.

[Clinical nutrition therapy in patients with short bowel syndrome in line with principles of personalized medicine].

PubMed

Sahin, Péter; Molnár, Andrea; Varga, Mária; Bíró, Ilona; Kőmíves, Csilla; Fejér, Csaba; Futó, Judit; Tomsits, Erika; Topa, Lajos

2014-12-21

Home parenteral nutrition administered in selected care centres has been financed in Hungary since January, 2013. The authors discuss diagnostic issues, treatment and nutrition therapy of short bowel syndrome patients in line with the principles of personalised medicine. The most severe form of short bowel syndrome occurs in patients having jejunostomy, whose treatment is discussed separately. The authors give a detailed overview of home parenteral feeding, its possible complications, outcomes and adaptation of the remaining bowel. They describe how their own care centre operates where they administer home parenteral nutrition to 12 patients with short bowel syndrome (5 females and 7 males aged 51.25±14.4 years). The body mass index was 19.07±5.08 kg/m2 and 20.87±3.3 kg/m2, skeletal muscle mass was 25.7±6.3 kg and 26.45±5.38 kg, and body fat mass was 14.25±8.55 kg and 11.77±2.71 kg at the start of home parenteral nutrition and presently, respectively. The underlying conditions of short bowel syndrome were tumours in 4 patients, bowel ischaemia in four patients, surgical complications in three patients, Crohn's disease in one patient, and Crohn's disease plus tumour in one patient.

Effects of traditional cupping therapy in patients with carpal tunnel syndrome: a randomized controlled trial.

PubMed

Michalsen, Andreas; Bock, Silke; Lüdtke, Rainer; Rampp, Thomas; Baecker, Marcus; Bachmann, Jürgen; Langhorst, Jost; Musial, Frauke; Dobos, Gustav J

2009-06-01

We investigated the effectiveness of cupping, a traditional method of treating musculoskeletal pain, in patients with carpal tunnel syndrome (CTS) in an open randomized trial. n = 52 outpatients (58.5 +/- 8.0 years) with neurologically confirmed CTS were randomly assigned to either a verum (n = 26) or a control group (n = 26). Verum patients were treated with a single application of wet cupping, and control patients with a single local application of heat within the region overlying the trapezius muscle. Patients were followed up on day 7 after treatment. The primary outcome, severity of CTS symptoms (VAS), was reduced from 61.5 +/- 20.5 to 24.6 +/- 22.7 mm at day 7 in the cupping group and from 67.1 +/- 20.2 to 51.7 +/- 23.9 mm in the control group [group difference -24.5mm (95%CI -36.1; -2.9, P < .001)]. Significant treatment effects were also found for the Levine CTS-score (-.6 pts: 95%CI -.9; -.2, P = .002), neck pain (-12.6mm; 95%CI -18.8; -6.4, P < .001), functional disability (DASH-Score) (-11.1 pts; 95%CI -17.1; -5.1, P < .001), and physical quality of life (.3; 95%CI .0; .3, P = .048). The treatment was safe and well tolerated. We conclude that cupping therapy may be effective in relieving the pain and other symptoms related to CTS. The efficacy of cupping in the long-term management of CTS and related mechanisms remains to be clarified. The results of a randomized trial on the clinical effects of traditional cupping therapy in patients with carpal tunnel syndrome are presented. Cupping of segmentally related shoulder zones appears to alleviate the symptoms of carpal tunnel syndrome.

Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study.

PubMed

Corrado, Bruno; Sommella, Nadia; Ciardi, Gianluca; Raiano, Enza; Scala, Iris; Strisciuglio, Pietro; Servodio Iammarrone, Clemente

2018-02-19

The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognityive skills. The study objectives were (a) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome, (b) to examine differences in walking onset by patient characteristics, (c) to verify the effect of early physical therapy (Neurodevelopmental Treatment on the basis of Bobath Concept practised within the first months of life) in the achievement of that skill. A retrospective study was carried out on a cohort of 86 children with Down Syndrome. The knowledge of the exact age of walking onset and information about comorobities and rehabilitation practised since birth were the eligibility criteria. The average age at which walking began in the sample was 26 months (Standard Deviation = 9.66). Some patient characteristics proved to be related negatively to the walking onset: gender male, trisomy 21, improved joint ligamentous laxity. When practised, early physical therapy was able to contrast the delay in walking. NDT-Bobath is a well-known and valid instrument for a child with Down syndrome to attain his highest possible psychomotor functioning level. This study pointed out for the first time ever its capability to contrast the delay on walking onset, which can influences positively the development of the following motor and cognitive skills.

Managing iron overload in patients with myelodysplastic syndromes with oral deferasirox therapy.

PubMed

Jabbour, Elias; Garcia-Manero, Guillermo; Taher, Ali; Kantarjian, Hagop M

2009-05-01

Patients with myelodysplastic syndromes (MDS) often require chronic RBC transfusions, which can lead to iron overload. Without adequate management, this may cause progressive damage to hepatic, endocrine, and cardiac organs, significantly affecting overall survival. Recent retrospective analyses have suggested that iron chelation provides a survival advantage in iron-overloaded patients with MDS who are given chelation therapy compared with those who are not. Nonetheless, it is evident that iron overload in many patients with MDS is not adequately managed. Clinical evaluation of the once-daily, oral iron chelator deferasirox in MDS populations has indicated that it provides dose-dependent reductions in body iron burden and is generally well tolerated, with a manageable safety profile in adult and pediatric patients. The most common treatment-related adverse events (AEs) included transient, mild-to-moderate gastrointestinal disturbances and skin rash, which rarely required drug discontinuation and resolved spontaneously in most cases. Adequate management of AEs and practical approaches such as patient education and counseling are necessary to ensure that patients remain compliant with therapy. Regular monitoring of serum ferritin levels is key to identifying patients who require iron chelation therapy, and to ensure maintenance of iron levels below the critical level of 1,000 microg/l. The flexible dosing regimen of deferasirox allows dose adjustments to be made in response to trends in serum ferritin, to changes in a patient's transfusional iron intake, and to the objectives of treatment, allowing the full benefit of transfusion therapy without the risks associated with iron overload.

Antithrombotic therapy in anticoagulated patients with atrial fibrillation presenting with acute coronary syndromes and/or undergoing percutaneous coronary intervention/stenting.

PubMed

Wrigley, Benjamin J; Tapp, Luke D; Shantsila, Eduard; Lip, Gregory Yh

2010-07-01

The management of antithrombotic therapy in atrial fibrillation patients presenting with acute coronary syndrome and/or undergoing percutaneous coronary inter vention/stenting cannot be done according to a regimented common protocol, and stroke and bleeding risk stratification schema should be employed to individualize treatment options. A delicate balance is needed between the prevention of thromboembolism, against recurrent cardiac ischemia or stent thrombosis, and bleeding risk. New guidance from a consensus document of the European Society of Cardiology Working Group on Thrombosis, endorsed by the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions on the management of Antithrombotic Therapy in Atrial Fibrillation Patients Presenting with Acute Coronary Syndrome and/or Undergoing Percutaneous Coronary Intervention/Stenting has sought to clarify some of the major issues and problems surrounding this practice, and will allow clinicians to make much more informed decisions when faced with treating such patients.

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

PubMed

Gattermann, Norbert

2008-07-01

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

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.

Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy.

PubMed

Demir, Tahsin; Kecik, Defne; Cehreli, Zafer C

2007-01-01

Kenny-Caffey Syndrome (KCS) is an extremely rare osteosclerotic bone dysplasia associated with hypocalcemia and ocular abnormalities. Although the condition is well reported in the medical literature, dental manifestations have not been discussed in great detail. The purpose of this report is to present specific oral features and prosthetic management in a KCS patient. Overlay dentures were utilized in the management of low vertical dimension of occlusion, congenital absence of several permanent teeth, and problems associated with function and esthetics. Results of the 4-year follow-up overlay denture therapy are presented.

Efficacy of Low-Intensity Extracorporeal Shock Wave Therapy on Men With Chronic Pelvic Pain Syndrome Refractory to 3-As Therapy.

PubMed

Guu, Shiao-Jin; Geng, Jiun-Hung; Chao, I-Ting; Lin, Hui-Tzu; Lee, Yung-Chin; Juan, Yung-Shun; Liu, Chia-Chu; Wang, Chii-Jye; Tsai, Chia-Chun

2018-03-01

Managing patients with chronic pelvic pain syndrome (CPPS) refractory to the traditional 3-As therapy (antibiotics, alpha-blockers, and anti-inflammatories) is a challenging task. Low-intensity extracorporeal shock wave therapy (LI-ESWT) was recently reported to be able to improve pain, urinary symptoms, and even sexual function by inducing neovascularization and anti-inflammation, reducing muscle tone, and influencing nerve impulses. This study evaluates whether combined treatment with LI-ESWT can restore clinical ability and quality of life (QoL) in patients refractory to 3-As therapy. This was an open-label, single-arm prospective study. Patients with CPPS without more than a 6-point decrease in the National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) total score under the maximal dosage of 3-As therapy were enrolled. LI-ESWT treatment consisted of 3,000 shock waves administered once weekly for 4 weeks. The NIH-CPSI, visual analog scale (VAS) score, International Prostate Symptom Score (IPSS), and the five-item version of the International Index of Erectile Function (IIEF-5) were used to evaluate efficacy at 1, 4, and 12 weeks after LI-ESWT. Thirty-three patients were enrolled in this study. After LI-ESWT treatment, 27 of the 33 patients (81.82%) had a successful response to LI-ESWT, with a decrease of 3.29 and 5.97 in the VAS score and total IPSS at the 3-month follow-up. Waist circumference was the only significant predictor of a successful response to LI-ESWT. LI-ESWT can serve as a salvage therapy for patients with CPPS refractory to traditional 3-As therapy. Further studies are needed to determine an adequate therapeutic protocol and important predictors in patients with different CPPS etiologies.

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

PubMed

Pan, Bifeng; Askew, Charles; Galvin, Alice; Heman-Ackah, Selena; Asai, Yukako; Indzhykulian, Artur A; Jodelka, Francine M; Hastings, Michelle L; Lentz, Jennifer J; Vandenberghe, Luk H; Holt, Jeffrey R; Géléoc, Gwenaëlle S

2017-03-01

Because there are currently no biological treatments for hearing loss, we sought to advance gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C). As restoration of complex auditory and balance function is likely to require gene delivery systems that target auditory and vestibular sensory cells with high efficiency, we delivered wild-type Ush1c into the inner ear of Ush1c c.216G>A mice using a synthetic adeno-associated viral vector, Anc80L65, shown to transduce 80-90% of sensory hair cells. We demonstrate recovery of gene and protein expression, restoration of sensory cell function, rescue of complex auditory function and recovery of hearing and balance behavior to near wild-type levels. The data represent unprecedented recovery of inner ear function and suggest that biological therapies to treat deafness may be suitable for translation to humans with genetic inner ear disorders.

Management of fibromyalgia syndrome in 2016.

PubMed

Okifuji, Akiko; Gao, Jeff; Bokat, Christina; Hare, Bradford D

2016-05-01

Fibromyalgia syndrome is a chronic pain disorder and defies definitively efficacious therapy. In this review, we summarize the results from the early treatment research as well as recent research evaluating the pharmacological, interventional and nonpharmacological therapies. We further discuss future directions of fibromyalgia syndrome management; we specifically focus on the issues that are associated with currently available treatments, such as the need for personalized approach, new technologically oriented and interventional treatments, the importance of understanding and harnessing placebo effects and enhancement of patient engagement in therapy.

Structured hypocaloric diet is more effective than behavioral therapy in reducing metabolic syndrome in Mexican postmenopausal women: a randomized controlled trial.

PubMed

Perichart-Perera, Otilia; Balas-Nakash, Margie; Muñoz-Manrique, Cinthya; Legorreta-Legorreta, Jennifer; Rodríguez-Cano, Ameyalli; Mier-Cabrera, Jennifer; Aguilera-Pérez, Jesús Rafael

2014-07-01

This study aims to compare the effects of a lifestyle intervention using a behavioral therapy (BT) approach with the effects of a cardioprotective structured hypocaloric diet on metabolic syndrome in Mexican postmenopausal women. This study is a randomized clinical trial (2006-2009) of Mexican postmenopausal women with metabolic syndrome (Adult Treatment Panel III criteria) who were recruited from the Postmenopause Clinic of the National Institute of Perinatology in Mexico City. Women were assigned to one of two groups--group 1 (structured hypocaloric diet; n = 63): energy restriction (-300 to -500 kcal/d) emphasizing cardioprotective dietary changes; and group 2 (BT; n = 55): goal setting, problem-solving, and stimulus control to achieve cardioprotective dietary and lifestyle recommendations. Metabolic syndrome prevalence, as well as weight, waist circumference, fat mass, and fasting biochemical markers (glucose and lipid profile), were measured at baseline and at 2, 4, and 6 months after the intervention. Metabolic syndrome risk (relative risk and absolute risk reduction), mean differences between groups, and logistic regression were evaluated using Statistical Package for the Social Sciences software, version 17.0. A total of 118 women were studied (mean [SD] age, 53.81 [6.43] y). No baseline differences were observed between groups. At the end of the study, a higher reduction in metabolic syndrome prevalence was observed in group 1 (-38.1%) compared with group 2 (-12.7%; relative risk, 0.237; 95% CI, 0.092-0.608; P = 0.003). The effect was maintained even when adjusted by age, hormone therapy and antihypertensive drug use. A cardioprotective structured hypocaloric diet is more effective than the BT approach in reducing metabolic syndrome after 6 months of intervention. Both strategies have positive effects on different individual cardiovascular risk factors.

Effect of Adding Interferential Current in an Exercise and Manual Therapy Program for Patients With Unilateral Shoulder Impingement Syndrome: A Randomized Clinical Trial.

PubMed

Gomes, Cid André Fidelis de Paula; Dibai-Filho, Almir Vieira; Moreira, William Arruda; Rivas, Shirley Quispe; Silva, Emanuela Dos Santos; Garrido, Ana Claudia Bogik

The purpose of this study was to measure the additional effect of adding interferential current (IFC) to an exercise and manual therapy program for patients with unilateral shoulder impingement syndrome. Forty-five participants were randomly assigned to group 1 (exercise and manual therapy), group 2 (exercise and manual therapy + IFC), or group 3 (exercise and manual therapy + placebo ultrasound). Individuals participated in 16 treatment sessions, twice a week for 8 weeks. The primary outcome of the study was total score of the Shoulder Pain and Disability Index (SPADI). The secondary outcomes were the pain and disability subscales of SPADI, Numeric Rating Scale, and Pain-Related Self-Statement Scale. Adjusted between-group mean differences (MDs) and 95% confidence intervals (CIs) were calculated using linear mixed models. After 16 treatment sessions, statistically significant but not clinically important differences were identified in favor of the exercise and manual therapy program alone in the SPADI-total (group 1 vs group 2, MD 11.12 points, 95% CI 5.90-16.35; group 1 vs group 3, MD 13.43 points, 95% CI 8.21-18.65). Similar results were identified for secondary outcomes. The addition of IFC does not generate greater clinical effects in an exercise and manual therapy program for individuals with unilateral shoulder impingement syndrome. Copyright © 2018. Published by Elsevier Inc.

Comparison of oral nicotinamide adenine dinucleotide (NADH) versus conventional therapy for chronic fatigue syndrome.

PubMed

Santaella, María L; Font, Ivonne; Disdier, Orville M

2004-06-01

To compare effectiveness of oral therapy with reduced nicotinamide adenine dinucleotide (NADH) to conventional modalities of treatment in patients with chronic fatigue syndrome (CFS). CFS is a potentially disabling condition of unknown etiology. Although its clinical presentation is associated to a myriad of symptoms, fatigue is a universal and essential finding for its diagnosis. No therapeutic regimen has proven effective for this condition. A total of 31 patients fulfilling the Centers for Disease Control criteria for CFS, were randomly assigned to either NADH or nutritional supplements and psychological therapy for 24 months. A thorough medical history, physical examination and completion of a questionnaire on the severity of fatigue and other symptoms were performed each trimester of therapy. In addition, all of them underwent evaluation in terms of immunological parameters and viral antibody titers. Statistical analysis was applied to the demographic data, as well as to symptoms scores at baseline and at each trimester of therapy. The twelve patients who received NADH had a dramatic and statistically significant reduction of the mean symptom score in the first trimester (p < 0.001). However, symptom scores in the subsequent trimesters of therapy were similar in both treatment groups. Elevated IgG and Ig E antibody levels were found in a significant number of patients. Observed effectiveness of NADH over conventional treatment in the first trimester of the trial and the trend of improvement of that modality in the subsequent trimesters should be further assessed in a larger patient sample.

Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

PubMed

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

2014-06-01

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

[Physiotherapy and physical therapies for fibromyalgia syndrome. Systematic review, meta-analysis and guideline].

PubMed

Winkelmann, A; Häuser, W; Friedel, E; Moog-Egan, M; Seeger, D; Settan, M; Weiss, T; Schiltenwolf, M

2012-06-01

The scheduled update to the German S3 guidelines on fibromyalgia syndrome (FMS) by the Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF; registration number 041/004) was planned starting in March 2011. The development of the guidelines was coordinated by the German Interdisciplinary Association for Pain Therapy ("Deutsche Interdisziplinären Vereinigung für Schmerztherapie", DIVS), 9 scientific medical societies and 2 patient self-help organizations. Eight working groups with a total of 50 members were evenly balanced in terms of gender, medical field, potential conflicts of interest and hierarchical position in the medical and scientific fields. Literature searches were performed using the Medline, PsycInfo, Scopus and Cochrane Library databases (until December 2010). The grading of the strength of the evidence followed the scheme of the Oxford Centre for Evidence-Based Medicine. The formulation and grading of recommendations was accomplished using a multi-step, formal consensus process. The guidelines were reviewed by the boards of the participating scientific medical societies. Low-to-moderate intensity aerobic exercise and strength training are strongly recommended. Chiropractic, laser therapy, magnetic field therapy, massage and transcranial current stimulation are not recommended. The English full-text version of this article is available at SpringerLink (under "Supplemental").

Immunosuppressive therapy for patients with Down syndrome and idiopathic aplastic anemia.

PubMed

Suzuki, Kyogo; Muramatsu, Hideki; Okuno, Yusuke; Narita, Atsushi; Hama, Asahito; Takahashi, Yoshiyuki; Yoshida, Makoto; Horikoshi, Yasuo; Watanabe, Ken-Ichiro; Kudo, Kazuko; Kojima, Seiji

2016-07-01

Idiopathic aplastic anemia (AA) is a rare hematological complication of Down syndrome (DS). The safety and efficacy of immunosuppressive therapy (IST) in individuals with DS remain unknown. We used a standard regimen of IST, comprising antithymocyte globulin and cyclosporine A, to treat three children with DS and idiopathic acquired AA. Two patients achieved a hematological (complete or partial) response and became transfusion independent at the final follow-up. The third patient failed to respond to IST and underwent bone marrow transplantation from a human leukocyte antigen (HLA)-mismatched unrelated donor. None of the patients experienced severe or unexpected adverse events during IST. Our experience suggests that IST is a safe and reasonable treatment, even in individuals with DS who suffer from AA and lack an HLA-matched sibling donor.

Treatment Option Overview (Myelodysplastic Syndromes)

MedlinePlus

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

Treatment Options for Myelodysplastic Syndromes

MedlinePlus

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

Effect of antidepressants and psychological therapies, including hypnotherapy, in irritable bowel syndrome: systematic review and meta-analysis.

PubMed

Ford, Alexander C; Quigley, Eamonn M M; Lacy, Brian E; Lembo, Anthony J; Saito, Yuri A; Schiller, Lawrence R; Soffer, Edy E; Spiegel, Brennan M R; Moayyedi, Paul

2014-09-01

Irritable bowel syndrome (IBS) is a chronic functional gastrointestinal disorder. Evidence relating to the treatment of this condition with antidepressants and psychological therapies continues to accumulate. We performed an updated systematic review and meta-analysis of randomized controlled trials (RCTs). MEDLINE, EMBASE, and the Cochrane Controlled Trials Register were searched (up to December 2013). Trials recruiting adults with IBS, which compared antidepressants with placebo, or psychological therapies with control therapy or "usual management," were eligible. Dichotomous symptom data were pooled to obtain a relative risk (RR) of remaining symptomatic after therapy, with a 95% confidence interval (CI). The search strategy identified 3,788 citations. Forty-eight RCTs were eligible for inclusion: thirty-one compared psychological therapies with control therapy or "usual management," sixteen compared antidepressants with placebo, and one compared both psychological therapy and antidepressants with placebo. Ten of the trials of psychological therapies, and four of the RCTs of antidepressants, had been published since our previous meta-analysis. The RR of IBS symptom not improving with antidepressants vs. placebo was 0.67 (95% CI=0.58-0.77), with similar treatment effects for both tricyclic antidepressants and selective serotonin reuptake inhibitors. The RR of symptoms not improving with psychological therapies was 0.68 (95% CI=0.61-0.76). Cognitive behavioral therapy, hypnotherapy, multicomponent psychological therapy, and dynamic psychotherapy were all beneficial. Antidepressants and some psychological therapies are effective treatments for IBS. Despite the considerable number of studies published in the intervening 5 years since we last examined this issue, the overall summary estimates of treatment effect have remained remarkably stable.

Management of fibromyalgia syndrome in 2016

PubMed Central

Okifuji, Akiko; Gao, Jeff; Bokat, Christina; Hare, Bradford D

2016-01-01

Fibromyalgia syndrome is a chronic pain disorder and defies definitively efficacious therapy. In this review, we summarize the results from the early treatment research as well as recent research evaluating the pharmacological, interventional and nonpharmacological therapies. We further discuss future directions of fibromyalgia syndrome management; we specifically focus on the issues that are associated with currently available treatments, such as the need for personalized approach, new technologically oriented and interventional treatments, the importance of understanding and harnessing placebo effects and enhancement of patient engagement in therapy. PMID:27306300

Effectiveness of hormone therapy for treating dry eye syndrome in postmenopausal women: a randomized trial.

PubMed

Piwkumsribonruang, Narongchai; Somboonporn, Woraruk; Luanratanakorn, Patanaree; Kaewrudee, Srinaree; Tharnprisan, Piangjit; Soontrapa, Sugree

2010-06-01

The efficacy of hormone therapy (HT) on dry eye syndrome remains debatable. To study the efficacy of HT on dry eye syndrome. A randomized controlled, double blind, parallel group, community-based study in 42 post-menopausal patients was conducted. The patients had dry eye syndrome and were not taking any medications. They were assigned to one of two groups. Group A comprised 21 patients given transdermal 17 beta-estradiol (50 mg/day) and medroxy progesterone acetate (2.5 mg/day) continuously for three months and group B comprised 21 patients given both transdermal and oral placebo. Participants in the study were included for final analysis. The improvement of dry eye symptoms were measured by visual analog scale, tear secretion, intraocular pressure, corneal thickness, and tear breakup time determined before treatment and at 6 and 12 weeks of treatment. At 12 weeks, the number of patients who reported improvement of dry eye symptoms was greater in the HT group than that in the placebo group. However, the difference was not statistically significant (RR 0.25, 95% CI 0.04-2.80 and 0.60, 95% CI 0.33-2.03 in right and left eye, respectively). For other parameters, there was no significant difference between the two groups. According to the present study, there is no strong evidence to support the use of HT for treating dry eye syndrome. The limited number of participants included in the present study may have contributed to the insignificant effects.

Filgrastim as a Rescue Therapy for Persistent Neutropenia in a Case of Dengue Hemorrhagic Fever with Acute Respiratory Distress Syndrome and Myocarditis

PubMed Central

Deepak, Desh; Garg, Rakesh; Pawar, Mridula; Banerjee, Neerja; Solanki, Rakesh; Maurya, Indubala

2011-01-01

Pathogenesis of dengue involves suppression of immune system leading to development of characteristic presentation of haematological picture of thrombocytopenia and leucopenia. Sometimes, this suppression in immune response is responsible for deterioration in clinical status of the patient in spite of all specific and supportive therapy. Certain drugs like steroids are used for rescue therapy in conditions like sepsis. We present a novel use of filgrastim as a rescue therapy in a patient with dengue hemorrhagic fever (DHF) with acute respiratory distress syndrome (ARDS), myocarditis, and febrile neutropenia and not responding to standard management. PMID:22606398

Efficacy of Therapies for Postural Tachycardia Syndrome: A Systematic Review and Meta-analysis.

PubMed

Wells, Rachel; Elliott, Adrian D; Mahajan, Rajiv; Page, Amanda; Iodice, Valeria; Sanders, Prashanthan; Lau, Dennis H

2018-06-21

To identify the evidence base and evaluate the efficacy of each treatment for postural tachycardia syndrome (POTS) in light of a recent consensus statement highlighting the lack of treatment options with clear benefit to risk ratios for this debilitating condition. The CENTRAL (Cochrane Central Register of Controlled Trials), PubMed, and Embase databases from inception to May 2017 were searched using the terms postural AND tachycardia AND syndrome. A total of 135 full-text publications were screened after excluding duplicates (n=681), conference abstracts (n=467), and records that did not relate to POTS therapy (n=876). We included 28 studies with at least 4 patients with POTS in which symptomatic response was reported after more than 4 weeks of therapy. This review was performed according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement. Two investigators independently performed the data extraction and evaluated the quality of evidence. This study comprised 25 case series and 3 small randomized controlled trials that evaluated 755 and 103 patients with POTS, respectively. Interventions directed at increasing intravascular volume, increasing peripheral or splanchnic vascular tone, controlling heart rate, and increasing exercise tolerance demonstrate moderate efficacy (range, 51%-72%). Few data exist on their comparative effectiveness. Significant heterogeneities were seen in terms of patient age, symptom severity, and the measures used to evaluate treatment efficacy. The current evidence base to guide optimal management of patients with POTS is extremely limited. More high-quality collaborative research with standardized reporting of symptom response and treatment tolerability is urgently needed. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Management of respiratory distress syndrome: an update.

PubMed

Rodriguez, Ricardo J

2003-03-01

Respiratory distress syndrome is the most common respiratory disorder in preterm infants. Over the last decade, because of improvements in neonatal care and increased use of antenatal steroids and surfactant replacement therapy, mortality from respiratory distress syndrome has dropped substantially. However, respiratory morbidity, primarily bronchopulmonary dysplasia, remains unacceptably high. The management of respiratory distress syndrome in preterm infants is based on various modalities of respiratory support and the application of fundamental principles of neonatal care. To obtain best results, a multidisciplinary approach is crucial. This review discusses surfactant replacement therapy and some of the current strategies in ventilatory management of preterm infants with respiratory distress syndrome. Copyright 2003 Daedalus Enterprises

Systemic Immunomodulating Therapies for Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

PubMed Central

Zimmermann, Stefanie; Sekula, Peggy; Venhoff, Moritz; Motschall, Edith; Knaus, Jochen; Schumacher, Martin

2017-01-01

Importance Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are rare but severe adverse reactions with high mortality. There is no evidence-based treatment, but various systemic immunomodulating therapies are used. Objectives To provide an overview on possible immunomodulating treatments for SJS/TEN and estimate their effects on mortality compared with supportive care. Data Sources A literature search was performed in December 2012 for articles published in MEDLINE, MEDLINE Daily, MEDLINE Inprocess, Web of Science, EMBASE, Scopus, and the Cochrane Library (Central) from January 1990 through December 2012, and updated in December 2015, in the English, French, Spanish, and German languages looking for treatment proposals for SJS/TEN. Other sources were screened manually. Study Selection Initially, 157 randomized and nonrandomized studies on therapies (systemic immunomodulating therapies or supportive care) for SJS/TEN were selected. Data Extraction and Synthesis Relevant data were extracted from articles. Authors were contacted for further information. Finally, 96 studies with sufficient information regarding eligibility and adequate quality scores were considered in the data synthesis. All steps were performed independently by 2 investigators. Meta-analyses on aggregated study data (random-effects model) and individual patient data (IPD) (logistic regression adjusted for confounders) were performed to assess therapeutic efficacy. In the analysis of IPD, 2 regression models, stratified and unstratified by study, were fitted. Main Outcomes and Measures Therapy effects on mortality were expressed in terms of odds ratios (ORs) with 95% CIs. Results Overall, 96 studies (3248 patients) were included. Applied therapies were supportive care or systemic immunomodulating therapies, including glucocorticosteroids, intravenous immunoglobulins, cyclosporine, plasmapheresis, thalidomide, cyclophosphamide, hemoperfusion, tumor necrosis factor inhibitors, and

B Cell Depletion Therapy Normalizes Circulating Follicular Th Cells in Primary Sjögren Syndrome.

PubMed

Verstappen, Gwenny M; Kroese, Frans G M; Meiners, Petra M; Corneth, Odilia B; Huitema, Minke G; Haacke, Erlin A; van der Vegt, Bert; Arends, Suzanne; Vissink, Arjan; Bootsma, Hendrika; Abdulahad, Wayel H

2017-01-01

To assess the effect of B cell depletion therapy on effector CD4+ T cell homeostasis and its relation to objective measures of disease activity in patients with primary Sjögren syndrome (pSS). Twenty-four patients with pSS treated with rituximab (RTX) and 24 healthy controls (HC) were included. Frequencies of circulating effector CD4+ T cell subsets were examined by flow cytometry at baseline and 16, 24, 36, and 48 weeks after the first RTX infusion. Th1, Th2, follicular Th (TFH), and Th17 cells were discerned based on surface marker expression patterns. Additionally, intracellular cytokine staining was performed for interferon-γ, interleukin (IL)-4, IL-21, and IL-17 and serum levels of these cytokines were analyzed. In patients with pSS, frequencies of circulating TFH cells and Th17 cells were increased at baseline compared with HC, whereas frequencies of Th1 and Th2 cells were unchanged. B cell depletion therapy resulted in a pronounced decrease in circulating TFH cells, whereas Th17 cells were only slightly lowered. Frequencies of IL-21-producing and IL-17-producing CD4+ T cells and serum levels of IL-21 and IL-17 were also reduced. Importantly, the decrease in circulating TFH cells was associated with lower systemic disease activity over time, as measured by the European League Against Rheumatism Sjögren's Syndrome Disease Activity Index scores and serum IgG levels. B cell depletion therapy in patients with pSS results in normalization of the elevated levels of circulating TFH cells. This reduction is associated with improved objective clinical disease activity measures. Our observations illustrate the pivotal role of the crosstalk between B cells and TFH cells in the pathogenesis of pSS.

Efficacy of levamisole in children with frequently relapsing and steroid-dependent nephrotic syndrome.

PubMed

Ekambaram, Sudha; Mahalingam, Vijayakumar; Nageswaran, Prahlad; Udani, Amish; Geminiganesan, Sangeetha; Priyadarshini, Shweta

2014-05-01

To assess the efficacy of levamisole in frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome. Retrospective analysis of hospital case records. Pediatric nephrology department of a tertiary referral pediatric hospital. 62 children with frequently relapsing nephrotic syndrome and 35 children with steroid-dependent nephrotic syndrome. Case records of children who were diagnosed as steroid-dependant or frequently-relapsing nephrotic syndrome from June 2004 to June 2011, were reviewed. Levamisole was given daily (2 mg/kg/d) along with tapering doses of alternate day steroids after remission on daily steroids. Levamisole was effective in 77.3% children with a better (80.6%) efficacy in frequently relapsing nephrotic syndrome. A total of 34 children completed 1 year follow-up post levamisole therapy. The cumulative mean (SD) steroid dose 1-year before therapy was 4109(1154) mg/m2 and 1-year post therapy was 661 (11) mg/m2 (P<0.001). The relapses were also less during the period of post-levamisole therapy. Levamisole is an effective alternative therapy in frequently relapsing and steroid-dependent nephrotic syndrome.

Cognitive-behavioral therapy for patients with irritable bowel syndrome: current insights.

PubMed

Kinsinger, Sarah W

2017-01-01

Irritable bowel syndrome (IBS) is a chronic gastrointestinal (GI) condition associated with significant health care utilization and quality-of-life impairment. Latest research indicates that the brain-gut axis plays a key role in the disorder, and the presence of psychological factors and central processing deficits contribute to symptom severity and disability. Psychological therapies as a whole have demonstrated good efficacy in reducing the severity of IBS symptoms. Cognitive-behavioral therapy (CBT) has been tested most rigorously in multiple randomized controlled trials and consistently demonstrates significant and durable effects on IBS symptoms and quality of life. Various protocols for treating IBS have been developed, and most recent advances in the field include exposure-based treatments to target symptom-specific anxiety as well as modified delivery methods, including internet-based treatment models. Despite the well-documented advantages of CBT for IBS, it has been poorly disseminated and few patients have access to this treatment. The primary barrier to dissemination is the limited number of therapists with adequate training in GI psychology to provide this evidence-based intervention. Future developments in the field need to focus on training opportunities to equip more therapists to competently provide CBT for this population. Further efforts to develop telemedicine platforms for delivering this intervention will also improve accessibility for patients.

Ankle impingement syndromes: an imaging review

PubMed Central

Tafur, Monica; Ahmed, Sonya S; Huang, Brady K; Chang, Eric Y

2017-01-01

Ankle impingement syndromes encompass a broad spectrum of post-traumatic and chronic degenerative changes that present with pain on specific movements about the ankle joint. Both amateur and professional athletes are disproportionately affected by these conditions, and while conservative measures can potentially treat an impingement syndrome, definitive therapy is often alleviated surgically. Imaging (including conventional radiography, ultrasound, CT and MRI) plays an invaluable role in the diagnosis and pre-surgical work-up. An anatomically based classification system is useful in these syndromes, as the aetiology, sites of pathology and preferred treatment methods are similarly based on anatomic locations about the ankle. This review focuses on the anatomic locations, pathophysiology, imaging considerations and brief discussion of therapies for each of the major anatomic ankle impingement syndromes. PMID:27885856

The People with Asperger syndrome and anxiety disorders (PAsSA) trial: a pilot multicentre, single-blind randomised trial of group cognitive-behavioural therapy.

PubMed

Langdon, Peter E; Murphy, Glynis H; Shepstone, Lee; Wilson, Edward C F; Fowler, David; Heavens, David; Malovic, Aida; Russell, Alexandra; Rose, Alice; Mullineaux, Louise

2016-03-01

There is a growing interest in using cognitive-behavioural therapy (CBT) with people who have Asperger syndrome and comorbid mental health problems. To examine whether modified group CBT for clinically significant anxiety in an Asperger syndrome population is feasible and likely to be efficacious. Using a randomised assessor-blind trial, 52 individuals with Asperger syndrome were randomised into a treatment arm or a waiting-list control arm. After 24 weeks, those in the waiting-list control arm received treatment, while those initially randomised to treatment were followed up for 24 weeks. The conversion rate for this trial was high (1.6:1), while attrition was 13%. After 24 weeks, there was no significant difference between those randomised to the treatment arm compared with those randomised to the waiting-list control arm on the primary outcome measure, the Hamilton Rating Scale for Anxiety. Trials of psychological therapies with this population are feasible. Larger definitive trials are now needed. None. © The Royal College of Psychiatrists 2016. This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY) licence.

Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome.

PubMed

Dagan, Y; Abadi, J; Lifschitz, A; Laron, Z

2001-08-01

A 68 year old patient with Laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions. Copyright 2001 Harcourt Publishers Ltd.

Treatment of Subacromial Impingement Syndrome: Platelet-Rich Plasma or Exercise Therapy? A Randomized Controlled Trial.

PubMed

Nejati, Parisa; Ghahremaninia, Armita; Naderi, Farrokh; Gharibzadeh, Safoora; Mazaherinezhad, Ali

2017-05-01

Subacromial impingement syndrome (SAIS) is the most common disorder of the shoulder. The evidence for the effectiveness of treatment options is inconclusive and limited. Therefore, there is a need for more evidence in this regard, particularly for long-term outcomes. Platelet-rich plasma (PRP) would be an effective method in treating subacromial impingement. Randomized controlled trial; Level of evidence, 1. This was a single-blinded randomized clinical trial with 1-, 3-, and 6-month follow-up. Sixty-two patients were randomly placed into 2 groups, receiving either PRP or exercise therapy. The outcome parameters were pain, shoulder range of motion (ROM), muscle force, functionality, and magnetic resonance imaging findings. Both treatment options significantly reduced pain and increased shoulder ROM compared with baseline measurements. Both treatments also significantly improved functionality. However, the treatment choices were not significantly effective in improving muscle force. Trend analysis revealed that in the first and third months, exercise therapy was superior to PRP in pain, shoulder flexion and abduction, and functionality. However, in the sixth month, only shoulder abduction and total Western Ontario Rotator Cuff score were significantly different between the 2 groups. Both PRP injection and exercise therapy were effective in reducing pain and disability in patients with SAIS, with exercise therapy proving more effective.

Kinesio taping compared to physical therapy modalities for the treatment of shoulder impingement syndrome.

PubMed

Kaya, Erkan; Zinnuroglu, Murat; Tugcu, Ilknur

2011-02-01

The purpose of this study was to determine and compare the efficacy of kinesio tape and physical therapy modalities in patients with shoulder impingement syndrome. Patients (n = 55) were treated with kinesio tape (n = 30) three times by intervals of 3 days or a daily program of local modalities (n = 25) for 2 weeks. Response to treatment was evaluated with the Disability of Arm, Shoulder, and Hand scale. Patients were questioned for the night pain, daily pain, and pain with motion. Outcome measures except for the Disability of Arm, Shoulder, and Hand scale were assessed at baseline, first, and second weeks of the treatment. Disability of Arm, Shoulder, and Hand scale was evaluated only before and after the treatment. Disability of Arm, Shoulder, and Hand scale and visual analog scale scores decreased significantly in both treatment groups as compared with the baseline levels. The rest, night, and movement median pain scores of the kinesio taping (20, 40, and 50, respectively) group were statistically significantly lower (p values were 0.001, 0.01, and 0.001, respectively) at the first week examination as compared with the physical therapy group (50, 70, and 70, respectively). However, there was no significant difference in the same parameters between two groups at the second week (0.109, 0.07, and 0.218 for rest, night, and movement median pain scores, respectively). Disability of Arm, Shoulder, and Hand scale scores of the kinesio taping group were significantly lower at the second week as compared with the physical therapy group. No side effects were observed. Kinesio tape has been found to be more effective than the local modalities at the first week and was similarly effective at the second week of the treatment. Kinesio taping may be an alternative treatment option in the treatment of shoulder impingement syndrome especially when an immediate effect is needed.

Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome.

PubMed

Bellamy, Sandra Gail; Gibbs, Karen; Lazaro, Rolando

2007-01-01

The purpose of this case report is to describe a course of physical therapy for a client with a rare genetic condition, multiple pterygium syndrome (MPS). MPS is a rare genetic disorder characterized by connective tissue webbing across multiple joints, dysmorphic facies, and various visceral and skeletal deformities. Before the patient commenced physical therapy, surgical amputation was recommended for the client's knee flexion contracture. The client's treatment plan included stretching, manual therapy, and resisted exercise. Long-term outcomes were decreased back and knee pain and improved range of motion, strength, and ambulation. Therapists using techniques to improve joint range of motion in clients with MPS should be aware that pterygia may include contractile tissue, nerves, and blood vessels and there may be underlying skeletal deformity or weakness in these areas. Children with MPS are at high risk of developing scoliosis and should be appropriately assessed in early childhood.

Remission of recurrent gastrointestinal bleeding after septal reduction therapy in patients with hypertrophic obstructive cardiomyopathy-associated acquired von Willebrand syndrome.

PubMed

Blackshear, J L; Stark, M E; Agnew, R C; Moussa, I D; Safford, R E; Shapiro, B P; Waldo, O A; Chen, D

2015-02-01

Gastrointestinal hemorrhage is considered to be a severe complication of von Willebrand disease. The optimal therapy for acquired von Willebrand syndrome and severe gastrointestinal bleeding with hypertrophic cardiomyopathy is undefined. Seventy-seven patients (median age, 67 years; interquartile range [IQR], 56-75 years; 49% women) with hypertrophic cardiomyopathy underwent von Willebrand factor multimer testing and acquisition of bleeding history. Bleeding was detected in 27 (36%) (median age, 74 years; IQR 66-76 years; 74% women), 20 with gastrointestinal bleeding, including 11 women with transfusion dependence. In these 11 women, the median duration of transfusion dependency was 36 months (IQR 18-44 months), and the median number of transfusions required was 25 (IQR 20-38). Two patients had undergone bowel resection for bleeding, one of them twice. Seven patients showed angiodysplasia, and the remainder had no endoscopic lesion. Bleeding recurred after bowel surgery or endoscopic intervention and medical therapy for hypertrophic cardiomyopathy in 10 of 11 patients. Two patients had septal myectomy, and six patients underwent alcohol septal ablation. With the exception of one patient in whom a significant gradient persisted after septal ablation, after the periprocedural period, patients after septal reduction therapy remained free of recurrent bleeding and need for transfusions. Acquired von Willebrand syndrome is common in hypertrophic cardiomyopathy. Gastrointestinal bleeding often recurs after endoscopic therapy, but may be relieved by structural cardiac repair. © 2014 International Society on Thrombosis and Haemostasis.

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

PubMed

Isgrig, Kevin; Shteamer, Jack W; Belyantseva, Inna A; Drummond, Meghan C; Fitzgerald, Tracy S; Vijayakumar, Sarath; Jones, Sherri M; Griffith, Andrew J; Friedman, Thomas B; Cunningham, Lisa L; Chien, Wade W

2017-03-01

Dizziness and hearing loss are among the most common disabilities. Many forms of hereditary balance and hearing disorders are caused by abnormal development of stereocilia, mechanosensory organelles on the apical surface of hair cells in the inner ear. The deaf whirler mouse, a model of human Usher syndrome (manifested by hearing loss, dizziness, and blindness), has a recessive mutation in the whirlin gene, which renders hair cell stereocilia short and dysfunctional. In this study, wild-type whirlin cDNA was delivered to the inner ears of neonatal whirler mice using adeno-associated virus serotype 2/8 (AAV8-whirlin) by injection into the posterior semicircular canal. Unilateral whirlin gene therapy injection was able to restore balance function as well as improve hearing in whirler mice for at least 4 months. Our data indicate that gene therapy is likely to become a treatment option for hereditary disorders of balance and hearing. Copyright © 2017. Published by Elsevier Inc.

New Aspects in the Differential Diagnosis and Therapy of Bladder Pain Syndrome/Interstitial Cystitis

PubMed Central

Neuhaus, Jochen; Schwalenberg, Thilo; Horn, Lars-Christian; Alexander, Henry; Stolzenburg, Jens-Uwe

2011-01-01

Diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC) is presently based on mainly clinical symptoms. BPS/IC can be considered as a worst-case scenario of bladder overactivity of unknown origin, including bladder pain. Usually, patients are partially or completely resistant to anticholinergic therapy, and therapeutical options are especially restricted in case of BPS/IC. Therefore, early detection of patients prone to develop BPS/IC symptoms is essential for successful therapy. We propose extended diagnostics including molecular markers. Differential diagnosis should be based on three diagnostical “columns”: (i) clinical diagnostics, (ii) histopathology, and (iii) molecular diagnostics. Analysis of molecular alterations of receptor expression in detrusor smooth muscle cells and urothelial integrity is necessary to develop patient-tailored therapeutical concepts. Although more research is needed to elucidate the pathomechanisms involved, extended BPS/IC diagnostics could already be integrated into routine patient care, allowing evidence-based pharmacotherapy of patients with idiopathic bladder overactivity and BPS/IC. PMID:22028706

New aspects in the differential diagnosis and therapy of bladder pain syndrome/interstitial cystitis.

PubMed

Neuhaus, Jochen; Schwalenberg, Thilo; Horn, Lars-Christian; Alexander, Henry; Stolzenburg, Jens-Uwe

2011-01-01

Diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC) is presently based on mainly clinical symptoms. BPS/IC can be considered as a worst-case scenario of bladder overactivity of unknown origin, including bladder pain. Usually, patients are partially or completely resistant to anticholinergic therapy, and therapeutical options are especially restricted in case of BPS/IC. Therefore, early detection of patients prone to develop BPS/IC symptoms is essential for successful therapy. We propose extended diagnostics including molecular markers. Differential diagnosis should be based on three diagnostical "columns": (i) clinical diagnostics, (ii) histopathology, and (iii) molecular diagnostics. Analysis of molecular alterations of receptor expression in detrusor smooth muscle cells and urothelial integrity is necessary to develop patient-tailored therapeutical concepts. Although more research is needed to elucidate the pathomechanisms involved, extended BPS/IC diagnostics could already be integrated into routine patient care, allowing evidence-based pharmacotherapy of patients with idiopathic bladder overactivity and BPS/IC.

IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function.

PubMed

Scheinowitz, Mickey; Feinberg, Micha S; Laron, Zvi

2009-06-01

Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. We assessed cardiac dimensions and function in very young patients with Laron syndrome (LS) undergoing IGF-I replacement therapy. Two to seven echocardiographic measurements were performed during IGF-I replacement therapy on male (n=4) and female (n=4) LS -patients, mean+/-SD age of 7.1+/-3.6 years (range 1.6-11.6 years), weight 16.1+/-9.7 kg, and height 89.9+/-18.5 cm. As aged- and gender-matched controls served 44 healthy children, age: 8.7+/-5.5 years, weight: 36.1+/-22.4 kg, and height: 129.7+/-33.1cm. Data of LS patients were normalized to body surface area and compared to the control group as well as nomograms of normal echocardiographic parameters for this age group. Left ventricular diastolic and systolic dimensions (LVDD/ LVSD, mm) and LV mass (gr) were significantly smaller in boys and girls with IGF-I treated LS compared with controls while the shortening fraction (%) and intraventricular septum thickness (mm) were similar. When compared with standard values for this age group, all treated LS patients were within 1 standard deviation of the mean. IGF-I therapy of young patients with Laron syndrome maintain LV dimensions and function within the normal range of aged-matched controls.

[Efficacy of highly active antiretroviral therapy for childhood acquired immunodeficiency syndrome].

PubMed

Hao, Jin-Li; Wang, Bao-Jin; Baptiste, Jean

2010-11-01

To investigate the efficacy of highly active antiretroviral therapy (HAART) for acquired immunodeficiency syndrome (AIDS) in children. The clinical data of 38 children (2-15 years old) with AIDS from a region of Rwanda and who had received HAART were retrospectively reviewed. All of 13 children with anemia showed improved anemia symptoms after HAART. The hemoglobin contents returned to normal levels in 12 children with mild or moderate anemia. CD4 T lymphocytes increased by 24%-1 181% in 5 out of 6 cases with severe immunodeficiency after HAART. During the HAART, the weight gain averaged 2.3 kg yearly. The growth and development in 5 out of 8 children with delayed growth restored the levels of normal children of the same age after HAART. HAART can improve the health status in children with AIDS and is effective for childhood AIDS.

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

PubMed

Chabre, Olivier

2014-04-01

The most frequent cause of Cushing's syndrome is iatrogenic, as Cushing's syndrome is the unavoidable consequence of long-term glucocorticoid treatment using more than 7.5 mg prednisone per day. The most frequent cause of endogenous Cushing's syndrome is Cushing's disease (CD), which is an ACTH dependent hypercortisolism linked to a pituitary corticotroph adenoma. This adenoma is often very small, its diagnosis may require bilateral inferior petrosal sinus sampling and the first line treatment of CD is transsphenoidal surgery by an expert neurosurgeon. The second line treatments include drugs that can act either on the pituitary adenoma or on adrenal steroidogenesis, pituitary radiotherapy or bilateral adrenalectomy. Ectopic ACTH dependent Cushing's syndrome is linked either to poorly differentiated endocrine tumors with a very poor prognosis, such as small cell lung cancer, or to well differentiated endocrine tumors, such as bronchial carcinoid tumors, which have a good prognosis when treated by surgery, but may be very difficult to localize. Adrenal Cushing's syndromes, which are independent of pituitary ACTH secretion, include adrenal cortex carcinoma, which requires abdominal surgery with extended adrenalectomy by an expert surgeon, adrenal adenoma which is treated by laparoscopic unilateral adrenalectomy and bilateral macronodular hyperplasia, whose surgical treatment may require unilateral or bilateral adrenalectomy. Treatment of Cushing's syndrome generally leads to spectacular clinical results, which must not hide the fact that the reversibility of some signs is actually incomplete. This underlines the need for a timely multidisciplinary management of the patients by an expert team. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

PubMed

Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Paraneoplastic neurological syndromes

PubMed Central

Leypoldt, F; Wandinger, K-P

2014-01-01

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

Peptide Receptor Radionuclide Therapy with 177Lu-DOTATATE for Metastatic Neuroendocrine Tumor Occurring in Association with Multiple Endocrine Neoplasia Type 1 and Cushing's Syndrome.

PubMed

Naik, Chinna; Basu, Sandip

2017-01-01

Neuroendocrine tumor (NET) occurring in association with other endocrine syndromes forms a distinct entity. The aim was to assess the therapy response profile of the routine peptide receptor radionuclide therapy (PRRT) in this relatively uncommon but clinically challenging subgroup of patients. A retrospective analysis was undertaken from the case records from those who were treated with 177 Lu-DOTATATE for metastatic NET. In addition to assessing the therapeutic efficacy, emphasis was also given to study lesional sites and scan pattern. A total of 5 cases were found: In this series of five cases, four belonged to multiple endocrine neoplasia type 1 (MEN1) syndrome; in these four MEN1 syndrome patients, the primary site of NET was thymic region ( n = 1), duodenum ( n = 1), and pancreas ( n = 2). The fifth case was of Cushing's syndrome with the primary site of NET in the thymus. A good symptomatic response was observed in all MEN1 syndrome cases (100%) and progression of symptoms in the patient with Cushing's syndrome. The biochemical response (assessed by measurement of tumor marker serum chromogranin A) demonstrated very good partial response (defined by more than 75% reduction of tumor marker) in 2 MEN1 cases and Cushing's syndrome, good partial response (25-75% reduction of tumor marker) in the remaining 2 MEN1 cases. Scan wise (assessed by technetium [ 99m Tc]-hydrazinonicotinamide [HYNIC]-tektrotyd [TOC]/ 68 Ga-DOTA-NOC/TATE positron emission tomography-computed tomography [PET-CT] and fluorodeoxyglucose [FDG] PET-CT) partial response was observed in 3 MEN1 cases, stable disease was noted in one MEN1 case and disease progression was noted in the patient with Cushing's syndrome. The change in FDG uptake was found to be an important sensitive scan parameter in the treatment evaluation of NETs compared to somatostatin receptor-based imaging in the cases with low MiB1 index. In our series, good palliative response to 177 Lu-DOTA-octreotate (DOTATATE) PRRT was

Early response in cognitive-behavior therapy for syndromes of medically unexplained symptoms.

PubMed

Kleinstäuber, Maria; Lambert, Michael J; Hiller, Wolfgang

2017-05-25

Early dramatic treatment response suggests a subset of patients who respond to treatment before most of it has been offered. These early responders tend to be over represented among those who are well at termination and at follow-up. Early response patterns in psychotherapy have been investigated only for a few of mental disorders so far. The main aim of the current study was to examine early response after five therapy-preparing sessions of a cognitive behavior therapy (CBT) for syndromes of medically unexplained symptoms (MUS). In the context of a randomized, waiting-list controlled trial 48 patients who suffered from ≥3 MUS over ≥6 months received 5 therapy-preparing sessions and 20 sessions of CBT for somatoform disorders. They completed self-report scales of somatic symptom severity (SOMS-7 T), depression (BDI-II), anxiety (BSI), illness anxiety and behavior (IAS) at pre-treatment, after 5 therapy-preparing sessions (FU-5P) and at therapy termination (FU-20 T). The current analyses are based on data from the treatment arm only. Repeated measure ANOVAs revealed a significant decrease of depression (d = 0.34), anxiety (d = 0.60), illness anxiety (d = 0.38) and illness behavior (d = 0.42), but no change of somatic symptom severity (d = -0.03) between pre-treatment and FU-5P. Hierarchical linear multiple regression analyses showed that symptom improvements between pre-treatment and FU-5P predict a better outcome at therapy termination for depression and illness anxiety, after controlling for pre-treatment scores. Mixed-effect ANOVAs revealed significant group*time interaction effects indicating differences in the course of symptom improvement over the therapy between patients who fulfilled a reliable change (i.e., early response) during the 5 therapy-preparing sessions and patients who did not reach an early reliable change. Demographic or clinical variables at pre-treatment were not significantly correlated with differential scores between pre

Chronic Fatigue Syndrome and Women: Can Therapy Help?

ERIC Educational Resources Information Center

Burke, Susan G.

1992-01-01

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

Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.

PubMed

Lopes, Vanda S; Williams, David S

2015-01-20

Usher syndrome is a deaf-blindness disorder. One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A. A variety of different viral-based delivery approaches have been tested for retinal gene therapy to prevent the blindness of Usher 1B, and a clinical trial based on one of these approaches has begun. This review evaluates the different approaches. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

Manual Physical Therapy Versus Surgery for Carpal Tunnel Syndrome: A Randomized Parallel-Group Trial.

PubMed

Fernández-de-Las Peñas, César; Ortega-Santiago, Ricardo; de la Llave-Rincón, Ana I; Martínez-Perez, Almudena; Fahandezh-Saddi Díaz, Homid; Martínez-Martín, Javier; Pareja, Juan A; Cuadrado-Pérez, Maria L

2015-11-01

This randomized clinical trial investigated the effectiveness of surgery compared with physical therapy consisting of manual therapies including desensitization maneuvers in carpal tunnel syndrome (CTS). The setting was a public hospital and 2 physical therapy practices in Madrid, Spain. One hundred twenty women with CTS were enrolled between February 2013 and January 2014, with 1-year follow-up completed in January 2015. Interventions consisted of 3 sessions of manual therapies including desensitization maneuvers of the central nervous system (physical therapy group, n = 60) or decompression/release of the carpal tunnel (surgical group, n = 60). The primary outcome was pain intensity (mean pain and the worst pain), and secondary outcomes included functional status and symptoms severity subscales of the Boston Carpal Tunnel Questionnaire and the self-perceived improvement. They were assessed at baseline and 1, 3, 6, and 12 months by a blinded assessor. Analysis was by intention to treat. At 12 months, 111 (92%) women completed the follow-up (55/60 physical therapy, 56/60 surgery). Adjusted analyses showed an advantage (all, P < .01) for physical therapy at 1 and 3 months in mean pain (Δ -2.0 [95% confidence interval (CI) -2.8 to -1.2]/-1.3 [95% CI -2.1 to -.6]), the worst pain (Δ -2.9 [-4.0 to -2.0]/-2.0 [-3.0 to -.9]), and function (Δ -.8 [-1.0 to -.6]/-.3 [-.5 to -.1]), respectively. Changes in pain and function were similar between the groups at 6 and 12 months. The 2 groups had similar improvements in the symptoms severity subscale of the Boston Carpal Tunnel Questionnaire at all follow-ups. In women with CTS, physical therapy may result in similar outcomes on pain and function to surgery. http://www.clinicaltrials.gov, ClinicalTrials.gov, NCT01789645. This study found that surgery and physical manual therapies including desensitization maneuvers of the central nervous system were similarly effective at medium-term and long-term follow-ups for improving pain

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

PubMed Central

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

2010-01-01

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

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

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

PubMed Central

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

2011-01-01

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

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

PubMed

Berkes, Andrea; Szikszay, Edit; Kappelmayer, János; Kerényi, Adrienne; Szabó, Tamás; Ujhelyi, László; Bari, Krisztina; Balla, György; Balla, József

2017-01-01

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

Use of Hemadsorption in a Case of Pediatric Toxic Shock Syndrome

PubMed Central

Berkes, Andrea; Szikszay, Edit; Kerényi, Adrienne; Szabó, Tamás; Ujhelyi, László; Bari, Krisztina; Balla, György

2017-01-01

Background Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. Case Presentation A 5-year-old girl with Down's syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure. As previous attempts of immune modulation therapy were unsuccessful, renal replacement therapy was supplemented by the cytokine absorber CytoSorb. Treatment using this combination was associated with a rapid and significant stabilization in the hemodynamic situation and a decrease in inflammatory mediators within hours after the initiation of therapy. The application of CytoSorb therapy was simple and safe. Conclusion The use of extracorporeal blood purification with CytoSorb proved potentially beneficial by removing toxins and inflammatory mediators in this case and could therefore play a role in the clinical management of toxic shock syndrome. Whether CytoSorb has the potential to even positively influence mortality in patients with toxic shock syndrome still needs to be confirmed. PMID:28791185

Use of Early Inhaled Nitric Oxide Therapy in Fat Embolism Syndrome to Prevent Right Heart Failure

PubMed Central

Koyfman, Leonid; Kutz, Ruslan; Frenkel, Amit; Gruenbaum, Shaun E.; Zlotnik, Alexander; Klein, Moti

2014-01-01

Fat embolism syndrome (FES) is a life-threatening condition in which multiorgan dysfunction manifests 48–72 hours after long bone or pelvis fractures. Right ventricular (RV) failure, especially in the setting of pulmonary hypertension, is a frequent feature of FES. We report our experience treating 2 young, previously healthy trauma patients who developed severe hypoxemia in the setting of FES. Neither patient had evidence of RV dysfunction on echocardiogram. The patients were treated with inhaled nitric oxide (NO), and their oxygenation significantly improved over the subsequent few days. Neither patient developed any cardiovascular compromise. Patients with FES that have severe hypoxemia and evidence of adult respiratory distress syndrome (ARDS) are likely at risk for developing RV failure. We recommend that these patients with FES and severe refractory hypoxemia should be treated with inhaled NO therapy prior to the onset of RV dysfunction. PMID:25180103

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

PubMed Central

Wakefield, Mary Lillias

2014-01-01

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

[Trigemino-autonomic headache syndromes].

PubMed

Busch, V; May, A

2003-01-01

This review describes the characteristics of some rare severe primary headache syndromes without any structural lesions, which are summarized as the trigemino-autonomic headaches. Pain in these syndromes is associated with autonomic symptoms such as conjunctival injection, lacrimation, rhinorrhoe, ptosis or eyelid edema. This article summarizes the diagnostics, epidemiology and therapy of these conditions.

Pursuing Precision Speech-Language Therapy Services for Children with Down Syndrome.

PubMed

McDaniel, Jena; Yoder, Paul J

2016-11-01

The behavioral phenotype of individuals with Down syndrome (DS) offers one avenue for developing speech-language therapy services that are tailored to the individual's characteristics that affect treatment response. Behavioral phenotypes are patterns of behavioral strengths and weaknesses for specific genetic disorders that can help guide the development and implementation of effective interventions. Nonetheless, individual differences within children with DS must be acknowledged and addressed because behavioral phenotypes are probabilistic, not deterministic. Developing precision speech-language therapy services to maximize learning opportunities and outcomes for children with DS calls for increased collaboration among clinicians and researchers to address the needs, challenges, and opportunities on three interconnected themes: (1) moving effective interventions from research to practice, (2) making evidence-based, child-specific treatment intensity decisions, and (3) considering child motivation and temperament characteristics. Increased availability of intervention materials and resources as well as more specific recommendations that acknowledge individual differences could help narrow the research-practice gap. Clear descriptions of disciplined manipulations of treatment intensity components could lead to more effective intervention services. Last, addressing motivation and temperament characteristics, such as the personality-motivation orientation, in children with DS may help maximize learning opportunities. Focused attention and collaboration on these key themes could produce substantial, positive changes for children with DS and their families in the coming decade. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Tourette Syndrome

MedlinePlus

... trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. Information from the National Library of Medicine’s MedlinePlus Tourette Syndrome × What research is ...

The People with Asperger syndrome and anxiety disorders (PAsSA) trial: a pilot multicentre, single-blind randomised trial of group cognitive–behavioural therapy

PubMed Central

Murphy, Glynis H.; Shepstone, Lee; Wilson, Edward C.F.; Fowler, David; Heavens, David; Malovic, Aida; Russell, Alexandra; Rose, Alice; Mullineaux, Louise

2016-01-01

Background There is a growing interest in using cognitive–behavioural therapy (CBT) with people who have Asperger syndrome and comorbid mental health problems. Aims To examine whether modified group CBT for clinically significant anxiety in an Asperger syndrome population is feasible and likely to be efficacious. Method Using a randomised assessor-blind trial, 52 individuals with Asperger syndrome were randomised into a treatment arm or a waiting-list control arm. After 24 weeks, those in the waiting-list control arm received treatment, while those initially randomised to treatment were followed up for 24 weeks. Results The conversion rate for this trial was high (1.6:1), while attrition was 13%. After 24 weeks, there was no significant difference between those randomised to the treatment arm compared with those randomised to the waiting-list control arm on the primary outcome measure, the Hamilton Rating Scale for Anxiety. Conclusions Trials of psychological therapies with this population are feasible. Larger definitive trials are now needed. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2016. This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY) licence. PMID:27703772

Metabolic Syndrome Sinkholes: What to Do When Occam's Razor Gets Blunted.

PubMed

Feldman, Ross D; Anderson, Todd J; Touyz, Rhian M

2015-05-01

The real promise of the metabolic syndrome concept was the opportunity to elucidate a singular common mechanism for its component abnormalities and consequently a singular therapy. That promise has not produced. This relates to the following considerations: (1) metabolic syndrome remains a syndrome not a disease, (2) its diagnosis offers little more than what can be determined by measuring waist circumference, (3) risk assessment is not improved by the diagnosis of metabolic syndrome, (4) the diagnosis of metabolic syndrome does not impact the treatment of each component of the syndrome, and (5) there is no effective therapy for metabolic syndrome in its entirety. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Bertolotti's syndrome: a case report.

PubMed

Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Treatment of Subacromial Impingement Syndrome: Platelet-Rich Plasma or Exercise Therapy? A Randomized Controlled Trial

PubMed Central

Nejati, Parisa; Ghahremaninia, Armita; Naderi, Farrokh; Gharibzadeh, Safoora; Mazaherinezhad, Ali

2017-01-01

Background: Subacromial impingement syndrome (SAIS) is the most common disorder of the shoulder. The evidence for the effectiveness of treatment options is inconclusive and limited. Therefore, there is a need for more evidence in this regard, particularly for long-term outcomes. Hypothesis: Platelet-rich plasma (PRP) would be an effective method in treating subacromial impingement. Study Design: Randomized controlled trial; Level of evidence, 1. Methods: This was a single-blinded randomized clinical trial with 1-, 3-, and 6-month follow-up. Sixty-two patients were randomly placed into 2 groups, receiving either PRP or exercise therapy. The outcome parameters were pain, shoulder range of motion (ROM), muscle force, functionality, and magnetic resonance imaging findings. Results: Both treatment options significantly reduced pain and increased shoulder ROM compared with baseline measurements. Both treatments also significantly improved functionality. However, the treatment choices were not significantly effective in improving muscle force. Trend analysis revealed that in the first and third months, exercise therapy was superior to PRP in pain, shoulder flexion and abduction, and functionality. However, in the sixth month, only shoulder abduction and total Western Ontario Rotator Cuff score were significantly different between the 2 groups. Conclusion: Both PRP injection and exercise therapy were effective in reducing pain and disability in patients with SAIS, with exercise therapy proving more effective. PMID:28567426

Efficacy of cupping therapy in patients with the fibromyalgia syndrome-a randomised placebo controlled trial

PubMed Central

Lauche, Romy; Spitzer, Julia; Schwahn, Barbara; Ostermann, Thomas; Bernardy, Kathrin; Cramer, Holger; Dobos, Gustav; Langhorst, Jost

2016-01-01

This study aimed to test the efficacy of cupping therapy to improve symptoms and quality of life in patients diagnosed with the fibromyalgia syndrome. Participants were randomly assigned to cupping therapy, sham or usual care. Cupping was administered five times at twice weekly intervals on the upper and lower back. The primary outcome measure was pain intensity at day 18. Secondary outcomes included functional disability, quality of life, fatigue and sleep quality as well as pressure pain sensitivity, satisfaction and safety at day 18 and 6 months. Altogether 141 patients were included in this study (139 females, 55.8 ± 9.1 years). After 18 days patients reported significant less pain after cupping compared to usual care (difference −12.4; 95% CI: −18.9; −5.9, p < 0.001) but not compared to sham (difference −3.0; 95% CI: −9.9, 3.9, p = 0.396). Further effects were found for quality of life compared to usual care. Patients were mildly satisfied with cupping and sham cupping; and only minor side effects were observed. Despite cupping therapy being more effective than usual care to improve pain intensity and quality of life, effects of cupping therapy were small and comparable to those of a sham treatment, and as such cupping cannot be recommended for fibromyalgia at the current time. PMID:27853272

Efficacy of cupping therapy in patients with the fibromyalgia syndrome-a randomised placebo controlled trial.

PubMed

Lauche, Romy; Spitzer, Julia; Schwahn, Barbara; Ostermann, Thomas; Bernardy, Kathrin; Cramer, Holger; Dobos, Gustav; Langhorst, Jost

2016-11-17

This study aimed to test the efficacy of cupping therapy to improve symptoms and quality of life in patients diagnosed with the fibromyalgia syndrome. Participants were randomly assigned to cupping therapy, sham or usual care. Cupping was administered five times at twice weekly intervals on the upper and lower back. The primary outcome measure was pain intensity at day 18. Secondary outcomes included functional disability, quality of life, fatigue and sleep quality as well as pressure pain sensitivity, satisfaction and safety at day 18 and 6 months. Altogether 141 patients were included in this study (139 females, 55.8 ± 9.1 years). After 18 days patients reported significant less pain after cupping compared to usual care (difference -12.4; 95% CI: -18.9; -5.9, p < 0.001) but not compared to sham (difference -3.0; 95% CI: -9.9, 3.9, p = 0.396). Further effects were found for quality of life compared to usual care. Patients were mildly satisfied with cupping and sham cupping; and only minor side effects were observed. Despite cupping therapy being more effective than usual care to improve pain intensity and quality of life, effects of cupping therapy were small and comparable to those of a sham treatment, and as such cupping cannot be recommended for fibromyalgia at the current time.

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…

Effects of daily living occupational therapy and resistance exercise on the activities of daily living and muscular fitness in Guillain-Barré syndrome: a case study.

PubMed

Ko, Kwang-Jun; Ha, Gi-Chul; Kang, Seol-Jung

2017-05-01

[Purpose] The study aimed to investigate the effects of daily living occupational therapy and resistance exercise on the performance of activities of daily living and muscular fitness in a patient with Guillain-Barré syndrome. [Subject and Methods] A 35-year-old man was diagnosed with Guillain-Barré syndrome. He was hospitalized at A Hospital for 3 years, and was discharged from the hospital after he became able to execute daily life activities. After discharge, he performed daily occupational therapy and resistance exercise twice a week for 70 minutes per session for 12 weeks. Performance in the activities of daily living was assessed using the modified Barthel index, and muscular fitness was measured in terms of isokinetic muscular function using the Biodes system. [Results] The subject's Barthel index score improved from 54 points before the intervention to 62 points after 4 weeks, 69 points after 8 weeks, and 79 points after 12 weeks. In addition, his shoulder flexion and extension, knee flexion and extension, and lumbar flexion and extension were improved. [Conclusion] The present study suggests that daily living occupational therapy and resistance exercise are effective in improving the activities of daily living and muscular fitness in a patient recovering from Guillain-Barré syndrome.

Traditional manual acupuncture combined with rehabilitation therapy for shoulder hand syndrome after stroke within the Chinese healthcare system: a systematic review and meta-analysis.

PubMed

Peng, Le; Zhang, Chao; Zhou, Lan; Zuo, Hong-Xia; He, Xiao-Kuo; Niu, Yu-Ming

2018-04-01

To investigate the effectiveness of traditional manual acupuncture combined with rehabilitation therapy versus rehabilitation therapy alone for shoulder hand syndrome after stroke. PubMed, EMBASE, the Cochrane Library, Chinese Biomedicine Database, China National Knowledge Infrastructure, VIP Information Database, Wan Fang Database and reference lists of the eligible studies were searched up to July 2017 for relevant studies. Randomized controlled trials that compared the combined effects of traditional manual acupuncture and rehabilitation therapy to rehabilitation therapy alone for shoulder hand syndrome after stroke were included. Two reviewers independently screened the searched records, extracted the data and assessed risk of bias of the included studies. The treatment effect sizes were pooled in a meta-analysis using RevMan 5.3 software. A total of 20 studies involving 1918 participants were included in this study. Compared to rehabilitation therapy alone, the combined therapy significantly reduced pain on the visual analogue scale and improved limb movement on the Fugl-Meyer Assessment scale and the performance of activities of daily living (ADL) on the Barthel Index scale or Modified Barthel Index scale. Of these, the visual analogue scale score changes were significantly higher (mean difference = 1.49, 95% confidence interval = 1.15-1.82, P < 0.00001) favoring the combined therapy after treatment, with severe heterogeneity ( I 2  = 71%, P = 0.0005). Current evidence suggests that traditional manual acupuncture integrated with rehabilitation therapy is more effective in alleviating pain, improving limb movement and ADL. However, considering the relatively low quality of available evidence, further rigorously designed and large-scale randomized controlled trials are needed to confirm the results.

Transtracheal oxygen and positive airway pressure: A salvage technique in overlap syndrome.

PubMed

Biscardi, Frank Hugo; Rubio, Edmundo Raul

2014-01-01

The coexistence of sleep apnea-hypopnea syndrome (SAHS) with chronic obstructive pulmonary disease (COPD) occurs commonly. This so called overlap syndrome leads to more profound hypoxemia, hypercapnic respiratory failure, and pulmonary hypertension than each of these conditions independently. Not infrequently, these patients show profound hypoxemia, despite optimal continuous positive airway pressure (CPAP) therapy for their SAHS. We report a case where CPAP therapy with additional in-line oxygen supplementation failed to accomplish adequate oxygenation. Adding transtracheal oxygen therapy (TTOT) to CPAP therapy provided better results. We review the literature on transtracheal oxygen therapy and how this technique may play a significant role in these complicated patients with overlap syndrome, obviating the need for more invasive procedures, such as tracheostomy.

Impact of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy with Sezary syndrome.

PubMed

Rasmussen, Thomas A; McMahon, James; Chang, J Judy; Symons, Jori; Roche, Michael; Dantanarayana, Ashanti; Okoye, Afam; Hiener, Bonnie; Palmer, Sarah; Lee, Wen Shi; Kent, Stephen J; Van Der Weyden, Carrie; Prince, H Miles; Cameron, Paul U; Lewin, Sharon R

2017-08-24

To study the effects of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy (ART) with Sezary syndrome, a rare malignancy of CD4 T cells. Case report. Blood was collected 30 and 18 months prior to presentation with Sezary syndrome, at the time of presentation and during alemtuzumab. T-cell subsets in malignant (CD7-CD26-TCR-VBeta2+) and nonmalignant cells were quantified by flow cytometry. HIV-DNA in total CD4 T cells, in sorted malignant and nonmalignant CD4 T cells, was quantified by PCR and clonal expansion of HIV-DNA assessed by full-length next-generation sequencing. HIV-hepatitis B virus coinfection was diagnosed and antiretroviral therapy initiated 4 years prior to presentation with Sezary syndrome and primary cutaneous anaplastic large cell lymphoma. The patient received alemtuzumab 10 mg three times per week for 4 weeks but died 6 weeks post alemtuzumab. HIV-DNA was detected in nonmalignant but not in malignant CD4 T cells, consistent with expansion of a noninfected CD4 T-cell clone. Full-length HIV-DNA sequencing demonstrated multiple defective viruses but no identical or expanded sequences. Alemtuzumab extensively depleted T cells, including more than 1 log reduction in total T cells and more than 3 log reduction in CD4 T cells. Finally, alemtuzumab decreased HIV-DNA in CD4 T cells by 57% but HIV-DNA remained detectable at low levels even after depletion of nearly all CD4 T cells. Alemtuzumab extensively depleted multiple T-cell subsets and decreased the frequency of but did not eliminate HIV-infected CD4 T cells. Studying the effects on HIV persistence following immune recovery in HIV-infected individuals who require alemtuzumab for malignancy or in animal studies may provide further insights into novel cure strategies.

Diabetes mellitus with Laron syndrome: case report.

PubMed

Agladıoglu, Sebahat Yılmaz; Cetınkaya, Semra; Savas Erdeve, Senay; Onder, Asan; Kendırcı, Havva Nur Peltek; Bas, Veysel Nijat; Aycan, Zehra

2013-01-01

There are different opinions concerning changes in glucose metabolism in patients with Laron syndrome. In this paper we discuss the treatment results of our patient with Laron syndrome who developed diabetes during late adolescence. A 19-year-old boy with Laron syndrome was referred to our clinic for follow-up. He had been diagnosed with Laron syndrome (LS) at 4 years old and rIGF-1 therapy was initiated. After 4 months the treatment was discontinued. At the age of 17, rIGF-1 therapy was restarted. A height gain of 8.8 cm. was observed during the 2-year treatment period. He was admitted to our hospital at the age of 19 years following discontinuation of the therapy. At that time, his height was 142 cm, and weight for height was 136%. His blood glucose was 85 mg/dL (4.72 mmol/L), insulin was 26.39 pmol/L, and HbA1c was 5.4%. At the age of 20, when he has not been receiving IGF-1 therapy for 1 year, his weight for height was 143 cm. Laboratory evaluation revealed that fasting blood glucose was 176 mg/dL (9.77 mmol/L), fasting insulin was 29.86 pmol/L, and HbA1c was 7.5%. Primary insulin therapy was then initiated. His parents both had a diagnosis of type 2 diabetes. Insulin therapy was switched to oral antidiabetic (OAD) therapy at the end of the second year because of a normal C-peptide level of 0.8 nmol/L under insulin therapy. After 6 months of OAD, HbA1c was 5.7%. The treatment was then switched to IGF-1 therapy, but his blood glucose profile was impaired and OAD therapy was restarted. In conclusion, we observed that genetic susceptibility and abdominal obesity caused type 2 diabetes in this patient. We believe that oral antidiabetic agents and life-style changes may be the appropriate approach when diabetes is developed in LS patients.

Could metabolic syndrome, lipodystrophy, and aging be mesenchymal stem cell exhaustion syndromes?

PubMed

Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

2011-01-01

One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

PubMed Central

Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H.; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

2011-01-01

One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies. PMID:21716667

Wound management with compression therapy and topical hemoglobin solution in a patient with Budd-Chiari Syndrome.

PubMed

Babadagi-Hardt, Zeynep; Engels, Peter; Kanya, Susanne

2014-03-31

Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases associated with disturbed blood flow a correlation between cause and effect is often diagnosed inappropriately. As a consequence, chronic wounds may develop and persist for years. We present a case of a patient with chronic venous insufficiency due to an occlusion of the inferior caval vein. Initially, a Budd-Chiari syndrome was diagnosed which is a thrombotic obstruction of the hepatic venous outflow. In addition, the patient developed an obstruction of the inferior caval vein and subsequently a chronic venous insufficiency. As a consequence, chronic leg ulcers developed with a history of more than 7 years. Various wound care approaches were performed without success in wound closure. Finally, a combination of compression therapy and topical application of a hemoglobin solution successfully led to fast and persistent wound closure. Chronic ulcers of the lower limb such as venous leg ulcers, even for patients with rare disorders like Budd-Chiari syndrome, are associated with oxygen supply disturbances resulting in a hypoxic status of the affected tissue. Therefore, an adequate oxygen supply to chronic wounds plays a pivotal role in successful wound healing. Compression therapy in combination with enhancement of the local oxygen supply by topically applied hemoglobin showed marked improvement of wound healing in the presented patient.

Therapy insight: Cancer anorexia-cachexia syndrome--when all you can eat is yourself.

PubMed

Laviano, Alessandro; Meguid, Michael M; Inui, Akio; Muscaritoli, Maurizio; Rossi-Fanelli, Filippo

2005-03-01

Tumor growth is associated with profound metabolic and neurochemical alterations, which can lead to the onset of anorexia-cachexia syndrome. Anorexia is defined as the loss of the desire to eat, while cachexia results from progressive wasting of skeletal muscle mass--and to a lesser extent adipose tissue--occurring even before weight loss becomes apparent. Cancer anorexia-cachexia syndrome is highly prevalent among cancer patients, has a large impact on morbidity and mortality, and impinges on patient quality of life. However, its clinical relevance is frequently overlooked, and treatments are usually only attempted during advanced stages of the disease. The pathogenic mechanisms of cachexia and anorexia are multifactorial, but cytokines and tumor-derived factors have a significant role, thereby representing a suitable therapeutic target. Energy expenditure in anorexia is frequently increased while energy intake is decreased, which further exacerbates the progressive deterioration of nutritional status. The optimal therapeutic approach to anorectic-cachectic cancer patients should be based on both changes in dietary habits, achieved via nutritional counseling; and drug therapy, aimed at interfering with cytokine expression or activity. Our improved understanding of the influence a tumor has on the host's metabolism is advancing new therapeutic approaches, which are likely to result in better preservation of nutritional status if started concurrently with specific antineoplastic treatment.

Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

PubMed

Singh, Michael N; Lacro, Ronald V

2016-01-01

Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

PubMed

Sienko, Magdalena; Petriczko, Elżbieta; Zajaczek, Stanislaw; Zygmunt-Gorska, Agata; Starzyk, Jerzy; Korpysz, Alicja; Petriczko, Jan; Walczak, Alicja; Walczak, Mieczysław

2017-12-01

Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

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

PubMed

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

2016-04-01

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

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

PubMed

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

2014-10-01

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. 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). 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. Dyssynergic constipation patients with and without IBS will likely benefit from biofeedback therapy.

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

The effect of relaxation therapy on autonomic functioning, symptoms and daily functioning, in patients with chronic fatigue syndrome or fibromyalgia: a systematic review.

PubMed

Meeus, Mira; Nijs, Jo; Vanderheiden, Tanja; Baert, Isabel; Descheemaeker, Filip; Struyf, Filip

2015-03-01

To establish the effects of relaxation therapy on autonomic function, pain, fatigue and daily functioning in patients with chronic fatigue syndrome or fibromyalgia. A systematic literature study was performed. Using specific keywords related to fibromyalgia or chronic fatigue syndrome and relaxation therapy, the electronic databases PubMed and Web of Science were searched. Included articles were assessed for their risk of bias and relevant information regarding relaxation was extracted. The review was conducted and reported according to the PRISMA-statement. Thirteen randomized clinical trials of sufficient quality were included, resulting in a total of 650 fibromyalgia patients (11 studies) and 88 chronic fatigue syndrome patients (3 studies). None of the studies reported effects on autonomic function. Six studies reported the effect of guided imagery on pain and daily functioning in fibromyalgia. The acute effect of a single session of guided imagery was studied in two studies and seems beneficial for pain relief. For other relaxation techniques (eg. muscle relaxation, autogenic training) no conclusive evidence was found for the effect on pain and functioning in fibromyalgia patients comparison to multimodal treatment programs. For fatigue a multimodal approach seemed better than relaxation, as shown in the sole three studies on chronic fatigue syndrome patients. There is moderate evidence for the acute effect of guided imagery on pain, although the content of the visualization is a matter of debate. Other relaxation formats and the effects on functionality and autonomic function require further study. © The Author(s) 2014.

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

Treatment Approaches in Down's Syndrome: A Review.

ERIC Educational Resources Information Center

Foreman, Philip J.; Ward, James

1986-01-01

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

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

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

2011-11-01

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.

Sotos syndrome

PubMed Central

Baujat, Geneviève; Cormier-Daire, Valérie

2007-01-01

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

Macrolide therapy is associated with reduced mortality in acute respiratory distress syndrome (ARDS) patients.

PubMed

Simonis, Fabienne D; de Iudicibus, Gianfranco; Cremer, Olaf L; Ong, David S Y; van der Poll, Tom; Bos, Lieuwe D; Schultz, Marcus J

2018-01-01

Macrolides have been associated with favorable immunological effects in various inflammatory disease states. We investigated the association between macrolide therapy and mortality in patients with the acute respiratory distress syndrome (ARDS). This was an unplanned secondary analysis of patients with ARDS within a large prospective observational study of critically ill patients in the intensive care units (ICUs) of two university-affiliated hospitals in the Netherlands. The exposure of interest was low-dose macrolide use prescribed for another reason than infection; we excluded patients who received high-dose macrolides for an infection. The primary endpoint was 30-day mortality. The association between macrolide therapy and mortality was determined in the whole cohort, as well as in a propensity score matched cohort; the association was compared between pulmonary versus non-pulmonary ARDS, and between two biological phenotypes based on plasma levels of 20 biomarkers. In total, 873 patients with ARDS were analyzed, of whom 158 patients (18%) received macrolide therapy during stay in ICU for a median duration of 3 (interquartile range, 1-4) days. Erythromycin was the most frequent prescribed macrolide (97%). Macrolide therapy was associated with reduced 30-day mortality in the whole cohort [22.8% vs. 31.6%; crude odds ratio (OR), 0.64 (interquartile range, 0.43-0.96), P=0.03]. The association in the propensity score matched cohort remained significant [22.8% vs. 32.9%; OR, 0.62 (interquartile range, 0.39-0.96), P=0.03]. Propensity matched associations with mortality were different in patients with non-pulmonary ARDS vs. pulmonary ARDS and also varied by biological phenotype. These data together show that low-dose macrolide therapy prescribed for another reason than infection is associated with decreased mortality in patients with ARDS.

Macrolide therapy is associated with reduced mortality in acute respiratory distress syndrome (ARDS) patients

PubMed Central

de Iudicibus, Gianfranco; Cremer, Olaf L.; Ong, David S. Y.; van der Poll, Tom; Bos, Lieuwe D.; Schultz, Marcus J.

2018-01-01

Background Macrolides have been associated with favorable immunological effects in various inflammatory disease states. We investigated the association between macrolide therapy and mortality in patients with the acute respiratory distress syndrome (ARDS). Methods This was an unplanned secondary analysis of patients with ARDS within a large prospective observational study of critically ill patients in the intensive care units (ICUs) of two university-affiliated hospitals in the Netherlands. The exposure of interest was low-dose macrolide use prescribed for another reason than infection; we excluded patients who received high-dose macrolides for an infection. The primary endpoint was 30-day mortality. The association between macrolide therapy and mortality was determined in the whole cohort, as well as in a propensity score matched cohort; the association was compared between pulmonary versus non-pulmonary ARDS, and between two biological phenotypes based on plasma levels of 20 biomarkers. Results In total, 873 patients with ARDS were analyzed, of whom 158 patients (18%) received macrolide therapy during stay in ICU for a median duration of 3 (interquartile range, 1–4) days. Erythromycin was the most frequent prescribed macrolide (97%). Macrolide therapy was associated with reduced 30-day mortality in the whole cohort [22.8% vs. 31.6%; crude odds ratio (OR), 0.64 (interquartile range, 0.43–0.96), P=0.03]. The association in the propensity score matched cohort remained significant [22.8% vs. 32.9%; OR, 0.62 (interquartile range, 0.39–0.96), P=0.03]. Propensity matched associations with mortality were different in patients with non-pulmonary ARDS vs. pulmonary ARDS and also varied by biological phenotype. Conclusions These data together show that low-dose macrolide therapy prescribed for another reason than infection is associated with decreased mortality in patients with ARDS. PMID:29430441

Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

PubMed

Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

2018-06-06

A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

[Manual therapy in general practice].

PubMed

Березуцкий, Владимир И

2016-01-01

The article is devoted to manual therapy practice for diagnostics and treatment of vertebrogenic pain syndrome in general practice. Analytical roundup of sources proves medical advantage of implementation of manual therapy basic methods by general practice specialists.

[Cardiac structure and function in patients with obstructive sleep apnea syndrome and co-prevalent arterial hypertension. Influence of CPAP therapy].

PubMed

Duchna, Hans-Werner; Myslinski, Wojciech; Dichmann, Manuel; Rasche, Kurt; Schultze-Werninghaus, Gerhard; Orth, Maritta

2006-01-15

30% of patients with arterial hypertension (AH) are supposed to have a co-prevalent obstructive sleep apnea syndrome (OSAS). Hence, the influence of CPAP (continuous positive airway pressure) therapy on cardiac structure and function was investigated in medically treated patients with AH and co-prevalent OSAS. In all patients AH was treated for at least 5 years. Matched pairs concerning anthropometric data, medical therapy and duration of AH, and severity of OSAS were investigated: 20 patients with untreated OSAS were compared to 20 patients with CPAP therapy for at least 6 months. Further cardiopulmonary diseases were excluded. Cardiac structure and function were assessed echocardiographically. Patients under CPAP therapy had significantly better diastolic left ventricular function, a lower left ventricular mass index, and significantly less frequent signs of left ventricular (eccentric) hypertrophy than patients with untreated OSAS. Furthermore, differences were significant concerning right ventricular wall thickness and mean pulmonary artery pressure. CPAP therapy positively influences left and right cardial structure and function in addition to antihypertensive medication in patients with AH and co-prevalent OSAS.

Synthesis of ganglioside epitopes for oligosaccharide specific immunoadsorption therapy of Guillian-Barré syndrome.

PubMed

Andersen, Søren M; Ling, Chang-Chun; Zhang, Ping; Townson, Kate; Willison, Hugh J; Bundle, David R

2004-04-21

Guillain-Barré syndrome is a postinfectious, autoimmune neuropathy resulting in neuromuscular paralysis. Auto-antibodies, often induced by bacterial infection, bind to human gangliosides possessing monosialoside and diasialoside epitopes and impair the function of nerve junctions, where these ganglioside structures are highly enriched. Truncated gangliosides representive of GD3, GQ1b and GM2 epitopes have been synthesized as methyl glycosides and as a glycosides of an eleven carbon tether. The synthetic oligosaccharide ligands are structural mimics of these highly complex ganglioside epitopes and via their ability to neutralize or remove auto-antibodies have the potential for therapy, either as soluble blocking ligands administered systemically, or as immuno-affinity ligands for use as extracorporeal immunoadsorbents.

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

PubMed

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

2013-08-01

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. 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. 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.

[Platelet aggregation and antiplatelet agents in acute coronary syndromes].

PubMed

Collet, Jean-Philippe; Choussat, Rémi; Montalescot, Gilles

2004-03-01

Antiplatelet agents are the cornerstone therapy of acute coronary syndromes. In the setting of ST elevation myocardial infarction, antiplatelet therapy prevent the prothrombotic effect of reperfusion therapy including thrombolysis and primary percutaneous coronary intervention. In non ST-elevation acute coronary syndromes, antiplatelet therapy prevent s complete coronary thrombotic occlusion and therefore the occurrence of ST elevation myocardial infarction. Antiplatelet agent benefit is related to the patient's risk profile. It is well established that combined antiplatelet therapy is the most effective in high risk patients. Several important issues have to be faced including the identification of non responders, dose adjustment and the management of temporary interruption of antiplatelet agents in stable coronary artery disease patients.

[Atrial fibrillation and prolonged nocturnal cardiac arrests in a patient with obstructive sleep apnea syndrome. Successful correction of disorders by CPAP therapy].

PubMed

Bairambekov, E Sh; Pevzner, A V; Litvin, A Yu; Fomicheva, O A

The case history of a 46-year-old patient with obstructive sleep apnea syndrome was analyzed. The examination revealed fourth-degree obesity, prior myocardial infarction, persistent atrial fibrillation with nocturnal asystoles lasting as long as 14.3 sec. During selected drug therapy and regular application of secondary ventilation (continuous positive airway pressure (CPAP) therapy) used to correct breathing problems, there was a reduction in the signs of circulatory deficiency, cessation of cardiac pauses, and recovery of sinus rhythm. The therapeutic effect persisted during a 24-month follow-up.

Botulinum toxin therapy in Frey's syndrome: a retrospective study of 440 treatments in 100 patients.

PubMed

Jansen, S; Jerowski, M; Ludwig, L; Fischer-Krall, E; Beutner, D; Grosheva, M

2017-04-01

Frey's syndrome is characterised as sweating, redness and warmth of the parotideal area and is often treated with botulinum toxin A. The objective of this retrospective study was to prove whether the toxin dosage and time-to-treatment intervals change after repeated botulinum toxin injections. The charts of patients, who were treated for Frey's syndrome during the last 16 years, were assessed. Three brands of botulinum toxin A were available for therapy. The Minor test was used to confirm the sweating before each treatment and to determine the toxin dosage. Constant amount of botulinum toxin was injected per cm 2 of the affected area. Patients consulted our department for the next treatment as soon as they felt disturbed by recurring sweating and when the sweating was objectively evident in the Minor test. Time intervals between treatments and injected toxin dosages were assessed. In total, 100 patients received 440 treatments in 16 years. Repeated injections, median 4.0, were carried out in 70.5% of patients. Median time interval to the first injection was 2.8 years. Median time interval between treatments was 12.0 months and showed to be steady (anova, P = .49, F = 1.01). Duration of effect of botulinum toxin on Frey's syndrome was long-lasting and stable with no significantly different time intervals between treatments. The extent of the sweating area did not vary significantly after repeated treatments and required a constant dose of botulinum toxin A. © 2016 John Wiley & Sons Ltd.

Molecular genetics of Liddle's syndrome.

PubMed

Yang, Kun-Qi; Xiao, Yan; Tian, Tao; Gao, Ling-Gen; Zhou, Xian-Liang

2014-09-25

Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel (ENaC) blockers but not spironolactone therapy. Our understanding of ENaCs and Na(+) transport defects has expanded greatly over the past two decades and provides detailed insight into the molecular basis of Liddle's syndrome. In this review, we offer an overview of recent advances in understanding the molecular genetics of Liddle's syndrome, involving mutation analysis, molecular mechanisms and genetic testing. The ENaC in the distal nephron is composed of α, β and γ subunits that share similar structures. Mutations associated with Liddle's syndrome are positioned in either β or γ subunits and disturb or truncate a conserved proline-rich sequence (i.e., PY motif), leading to constitutive activation of the ENaC. Genetic testing has made it possible to make accurate diagnoses and develop tailored therapies for mutation carriers. Copyright © 2014 Elsevier B.V. All rights reserved.

Recent advance in immunological tests in paraneoplastic neurological syndrome.

PubMed

Fong, Chin-Shih

2005-03-01

Paraneoplastic neurological syndromes are uncommon, however; their diagnosis is of major practical importance. Any portion of the nervous system may be involved in paraneoplastic syndromes. There is increasing evidence that the pathogenesis of many paraneoplastic neurological syndromes appears to be an immune reaction against antigen shared by the cancer and the nervous system. The identification of antibodies in the serum or cerebrospinal fluid in the central nervous system of paraneoplastic syndrome patient confirms the clinical diagnosis of paraneoplastic syndrome, and allows early identification of an underlying tumor at a stage when it is localized and more amenable to treatment. Cancer therapy (surgery, radiotherapy, chemotherapy) seems to be the most efficient treatment for the paraneoplastic neurological symptoms. Immunomodulatory therapy (intravenous immunoglobulin, plasmapheresis, immunosuppression) can halt or even reverse the neurological syndrome. The recent advances in understanding of the autoimmune pathology of these disorders should lead to more effective treatment options.

Extracorporeal Shock Wave Therapy Versus Trigger Point Injection in the Treatment of Myofascial Pain Syndrome in the Quadratus Lumborum

PubMed Central

2017-01-01

Objective To compare the effectiveness of extracorporeal shock wave therapy (ESWT) and trigger point injection (TPI) for the treatment of myofascial pain syndrome in the quadratus lumborum. Methods In a retrospective study at our institute, 30 patients with myofascial pain syndrome in the quadratus lumborum were assigned to ESWT or TPI groups. We assessed ESWT and TPI treatment according to their affects on pain relief and disability improvement. The outcome measures for the pain assessment were a visual analogue scale score and pain pressure threshold. The outcome measures for the disability assessment were Oswestry Disability Index, Roles and Maudsley, and Quebec Back Pain Disability Scale scores. Results Both groups demonstrated statistically significant improvements in pain and disability measures after treatment. However, in comparing the treatments, we found ESWT to be more effective than TPI for pain relief. There were no statistically significant differences between the groups with respect to disability. Conclusion Compared to TPI, ESWT showed superior results for pain relief. Thus, we consider ESWT as an effective treatment for myofascial pain syndrome in the quadratus lumborum. PMID:28971042

Cerebellar degeneration following neuroleptic malignant syndrome.

PubMed Central

Lal, V.; Sardana, V.; Thussu, A.; Sawhney, I. M.; Prabhakar, S.

1997-01-01

A 55-year-old woman with a history of bipolar affective disorder developed hyperpyrexia, rigidity and depressed consciousness (neuroleptic malignant syndrome) after commencing neuroleptic therapy. On regaining consciousness, she was mute and had signs suggesting pancerebellar involvement. Hyperpyrexia, which is a cardinal feature of neuroleptic malignant syndrome, may have caused cerebellar damage. Neuroleptic malignant syndrome needs both early recognition and prompt treatment to obviate devastating complications. PMID:9519191

Hypertriglyceridemia thalassemia syndrome.

PubMed

Jain, Mili; Ali, Wahid; Singh, Brijendra Bahadur; Verma, Nishant; Kumar, Ashutosh

2018-06-14

Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

Fifty Years of Research in ARDS. Cell-based Therapy for Acute Respiratory Distress Syndrome. Biology and Potential Therapeutic Value.

PubMed

Laffey, John G; Matthay, Michael A

2017-08-01

On the basis of several preclinical studies, cell-based therapy has emerged as a potential new therapeutic for acute respiratory distress syndrome (ARDS). Of the various cell-based therapy options, mesenchymal stem/stromal cells (MSCs) from bone marrow, adipose tissue, and umbilical cord have the most experimental data to support their potential efficacy for lung injury from both infectious and noninfectious causes. Mechanistically, MSCs exert their beneficial effects by release of paracrine factors, microvesicles, and transfer of mitochondria, all of which have antiinflammatory and pro-resolving effects on injured lung endothelium and alveolar epithelium, including enhancing the resolution of pulmonary edema by up-regulating sodium-dependent alveolar fluid clearance. MSCs also have antimicrobial effects mediated by release of antimicrobial factors and by up-regulating monocyte/macrophage phagocytosis. Phase 2a clinical trials to establish safety in ARDS are in progress, and two phase 1 trials did not report any serious adverse events. Several issues need further study, including: determining the optimal methods for large-scale production, reconstitution of cryopreserved cells for clinical use, defining cell potency assays, and determining the therapeutic potential of conditioned media derived from MSCs. Because ARDS is a heterogeneous syndrome, targeting MSCs to patients with ARDS with a more hyperinflammatory endotype may further enhance their potential for efficacy.

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

PubMed Central

Häuser, Winfried; Dobos, Gustav; Langhorst, Jost

2015-01-01

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

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

PubMed

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

2015-01-01

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

Rocuronium-sugammadex for electroconvulsive therapy management in neuroleptic malignant syndrome: A case report.

PubMed

Casas Reza, P; Gestal Vázquez, M; Outeiro Rosato, Á; López Álvarez, S; Diéguez García, P

2017-02-01

Neuroleptics are a group of drugs widely used in the treatment of psychotic symptoms. Among their adverse effects is the ability to trigger a neuroleptic malignant syndrome (NMS). The diagnosis of NMS is determined by exclusion, and its initial therapeutic management should be the withdrawal of neuroleptics, the administration of benzodiazepines, and electroconvulsive therapy (ECT). ECT is an effective treatment in these patients, and in those cases with a poor response to treatment with antipsychotic drugs. A review is presented on the treatment options and anaesthetic implications of ECT used to handle a patient diagnosed with paranoid schizophrenia in the context of NMS. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

[Secondary impingement syndrome in athletes].

PubMed

Jerosch, J; Castro, W H; Sons, H U

1990-12-01

Dysfunction of the shoulder joint is based not only on anatomic conditions. The consideration of the special kinesiology of the shoulder helps to understand the shoulder pathology. This mainly applies to young "overhead athletes" like swimmers, handball-, basketball-, volleyball-, and racketplayers. These disciplines cause stress on the anterior joint structures (capsule, ligaments, labrum, subscapularis tendon) and lead to anterior instability. This includes anterior subluxation or even dislocation. Finally, an impingement syndrome with the typical symptoms can frequently result from these conditions. The impingement-syndrome of the elderly must be considered as a primary disease, whereas the young overhead athlete suffers from the impingement syndrome as a secondary disease and does not take the first place in therapy. The first step in therapy should to be treat the muscular imbalance of the shoulder. To gain a regular pattern of motion the rotator cuff must be strengthened. This regimen is likely to be successful in 80-90% of the cases. If the conservative therapy fails the surgical treatment may come into consideration. Arthroscopic surgery has the advantage not to affect the proprioceptivity. To retain the previous level of performance an adequate rehabilitation programme is essential for the athlete.

Factors affecting responses of infants with respiratory distress syndrome to exogenous surfactant therapy.

PubMed

Ho, N K

1993-02-01

Approximately 20% to 30% of infants with respiratory distress syndrome (RDS) do not respond to surfactant replacement therapy. Unfortunately there is no uniform definition of 'response' or 'non-response' to surfactant therapy. Response was based on improvement in a/A PO2 and/or mean airway pressure (MAP) by some and on improvement in FIO2 and/or MAP by others. Even the point of time at which evaluation of response was done is different in various reports. There is an urgent need to adopt an uniform definition. Most premature babies are surfactant deficient which is the aetiological factor of RDS. Generally good antenatal care and perinatal management are essential in avoidance of premature birth. Babies with lung hypoplasia and who are extremely premature (less than 24 weeks of gestation) do not respond well to exogenous surfactant replacement because of structural immaturity. Prompt management of asphyxiated birth and shock are necessary as there may be negative response to surfactant replacement. Foetal exposure to glucocorticoids improves responsiveness to postnatal administration of surfactant. Antenatal steroid therapy has become an important part of management of RDS with surfactant replacement. The premature lungs with high alveolar permeability tend to develop pulmonary oedema. With the presence of plasma-derived surfactant inhibitors, the response to exogenous surfactant may be affected. These inhibitors may also be released following ventilator barotrauma. The standard of neonatal intensive care such as ventilatory techniques has an important bearing on the outcome of the RDS babies.(ABSTRACT TRUNCATED AT 250 WORDS)

Unravelling the NERDS syndrome.

PubMed

Singh, Achintya Dinesh; Suri, Tejas Menon; Jagdish, Rakesh Kumar; Kumar, Uma

2018-05-12

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Haematological investigations revealed eosinophilia and skin biopsy had cutaneous eosinophilic infiltration. The constellation of above findings comprises the nodules, eosinophilia, rheumatism, dermatitis and swelling syndrome. It a rare syndrome with few reported cases in literature. The patient was started on oral corticosteroids which was subsequently tapered and methotrexate therapy. His polyarthritis and skin rashes resolved with therapy. He has been followed-up for 2 years and is presently asymptomatic for the last 1 year. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Cytogenetic evidence of metastatic myxoid liposarcoma and therapy-related myelodysplastic syndrome in a bone marrow biopsy.

PubMed

Rossi, Sabrina; Canal, Fabio; Licci, Stefano; Zanatta, Lucia; Laurino, Licia; Gottardi, Michele; Gherlinzoni, Filippo; Dei Tos, Angelo Paolo

2009-07-01

Myxoid liposarcoma exhibits a peculiar clinical behavior, with a tendency to spread to serosal membranes, distant soft tissues, and bones, even in the absence of lung metastases. Therapy-related hematological neoplasms are well-known side effects of cytotoxic chemotherapy. We describe an exceptional case of metastatic myxoid liposarcoma of the spine associated with therapy-related refractory anemia with excess of blasts in a 37-year-old woman who underwent multi-agent chemotherapy for a myxoid liposarcoma of the left thigh. Microscopic examination of the bone marrow biopsy revealed dysplastic features, with abnormal localization of immature precursors and micromegakaryocytes, and islands of undifferentiated oval small/medium-size cells, suggestive of acute myeloid leukemia arising in the setting of a myelodysplastic syndrome. Immunohistochemistry was not discriminant. Cytogenetic analyses of bone marrow aspirate disclosed the presence of 2 different rearrangements, subsequently confirmed by fluorescent in situ hybridization and was crucial in making the correct diagnosis.

Cognitive-behavioral therapy for premenstrual syndrome and premenstrual dysphoric disorder: a systematic review.

PubMed

Lustyk, M Kathleen B; Gerrish, Winslow G; Shaver, Shelley; Keys, Shaunie L

2009-04-01

We systematically reviewed empirical studies that investigated the use of cognitive-behavioral therapy (CBT) for premenstrual syndrome (PMS) or premenstrual dysphoric disorder (PMDD). Our multi-database search identified seven published empirical reports. Three were identified as randomized controlled trials (RCTs). The methods utilized to investigate therapeutic efficacy of CBT in these studies varied widely from case reports to RCTs with pharmacotherapy comparison groups. Initially we provide a brief overview of CBT and justifications for its potential use to treat PMS/PMDD. Next, we provide critical evaluations of the analyses used in each study focusing on the detection of intervention effects assessed by statistically significant time by group interactions. When possible we calculate effect sizes to elucidate the clinical significance of results. Our review revealed a dearth of evidence providing statistically significant CBT intervention effects. Issues such as overall time investment, latency to treatment effects, and complementary and combined therapies are considered. We present a theoretical argument for applying mindfulness- and acceptance-based CBT interventions to PMS/PMDD and suggest future research in this area. In conclusion, to produce the necessary evidence-base support for PMS/PMDD given the limited empirical evidence reported here, researchers are called on to produce methodologically rigorous investigations of psychosocial interventions for PMS/PMDD.

Basal cell nevus syndrome or Gorlin syndrome.

PubMed

Thalakoti, Srikanth; Geller, Thomas

2015-01-01

Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome

ClinicalTrials.gov

2013-02-25

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

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

PubMed Central

Williams, David S.

2009-01-01

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

Opportunities for improvement in anti-thrombotic therapy and other strategies for the management of acute coronary syndromes: Insights from EPICOR, an international study of current practice patterns.

PubMed

Bueno, Héctor; Sinnaeve, Peter; Annemans, Lieven; Danchin, Nicolas; Licour, Muriel; Medina, Jesús; Pocock, Stuart; Sánchez-Covisa, Joaquín; Storey, Robert F; Jukema, J Wouter; Zeymer, Uwe; Van de Werf, Frans

2016-02-01

To describe international patterns and opportunities for improvement of pre- and in-hospital care of patients hospitalized for acute coronary syndromes (ACS), with special focus on anti-thrombotic therapy. EPICOR (long-tErm follow-uP of anti-thrombotic management patterns In acute CORonary syndrome patients), an international, cohort study, which enrolled 10,568 consecutive ACS survivors from 555 hospitals in 20 countries across Europe and Latin America (September 2010 to March 2011), prospectively registered detailed information on pre- and in-hospital management. Globally, 4738 (44.8%) were attended before hospitalization, 4241 (40.1%) had an ECG, 2119 (20%) received anti-platelet therapy and 101 STEMI patients (2%) fibrinolysis. In-hospital, 7944 patients (75.2%) received dual anti-platelet therapy, most often with clopidogrel (69.7%), and less with prasugrel (5.4%); 1705 (16.1%) had triple anti-platelet therapy, and 849 (8%) single anti-platelet therapy. STEMI patients more often received pre-hospital anti-thrombotics, and prasugrel, GP IIb/IIIa inhibitors and UFH in-hospital (all p < 0.001). More NSTE-ACS patients received clopidogrel, single anti-platelet therapy, and fondaparinux (all p < 0.001). As many as 33% of ACS patients were medically managed. A significant decreasing gradient was found between Northern, Southern and Eastern Europe and Latin America in use of more potent patterns of anti-platelet therapy, reperfusion therapy and invasive strategy. This large international study shows room for improvement in use of anti-thrombotic drugs and other strategies for optimal management of ACS, including pre-hospital ECG and anti-thrombotic therapy. Regional practice differences not based on evidence or conditioned by economic constraints should be reduced. © The European Society of Cardiology 2015.

The Effects of Assisted Cycling Therapy (Act) and Voluntary Cycling on Reaction Time and Measures of Executive Function in Adolescents with Down Syndrome

ERIC Educational Resources Information Center

Ringenbach, S. D. R.; Holzapfel, S. D.; Mulvey, G. M.; Jimenez, A.; Benson, A.; Richter, M.

2016-01-01

Background: Reports of positive effects of aerobic exercise on cognitive function in persons with Down syndrome are extremely limited. However, a novel exercise intervention, termed assisted cycling therapy (ACT), has resulted in acutely improved cognitive planning ability and reaction times as well as improved cognitive planning after 8 weeks of…

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 δ 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 δ 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

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.

Dance Therapy with Physical Therapy for Children with Down Syndrome.

ERIC Educational Resources Information Center

Dupont, Blanche Burt; Schulmann, Diana

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

Drug-induced Brugada syndrome: Clinical characteristics and risk factors.

PubMed

Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami

2016-05-01

Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The purpose of this study was to identify clinical and ECG risk markers for drug-induced Brugada syndrome. Reports of drug-induced Brugada syndrome recounted by an international database (http://www.brugadadrugs.org) were reviewed to define characteristics that identify patients prone to developing this complication. For each patient with drug-induced Brugada syndrome who had an ECG recorded in the absence of drugs, we included 5 healthy controls matched by gender and age. All ECGs were evaluated for Brugada-like abnormalities. Seventy-four cases of drug-induced Brugada syndrome from noncardiac medications were identified: 77% were male, and drug toxicity was involved in 46%. Drug-induced Brugada syndrome from oral medications generally occurred weeks after the initiation of therapy. Mortality was 13%. By definition, all cases had a type I Brugada pattern during drug therapy. Nevertheless, their ECG in the absence of drugs was more frequently abnormal than the ECG of controls (56% vs 33%, P = .04). Drug-induced Brugada syndrome from noncardiac drugs occurs predominantly in adult males, is frequently due to drug toxicity, and occurs late after the onset of therapy. Minor changes are frequently noticeable on baseline ECG, but screening is impractical because of a prohibitive false-positive rate. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

PubMed

Chung, Yo Kyung; Sohn, Young Bae; Sohn, Jong Mun; Lee, Jieun; Chang, Mi Sun; Kwun, Younghee; Kim, Chi Hwa; Lee, Jin Young; Yook, Yeon Joo; Ko, Ah-Ra; Jin, Dong-Kyu

2014-05-01

Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs). For enzyme replacement therapy (ERT) of Hunter syndrome, two recombinant enzymes, idursulfase (Elaprase(®), Shire Human Genetic Therapies, Lexington, MA) and idursulfase beta (Hunterase(®), Green Cross Corporation, Yongin, Korea), are currently available in Korea. To compare the biochemical and physicochemical differences between idursulfase and idursulfase beta, we examined the formylglycine (FGly) content, specific enzyme activity, mannose-6-phosphate (M6P) content, sialic acid content, and in vitro cell uptake activity of normal human fibroblasts of these two enzymes.The FGly content, which determines the enzyme activity, of idursulfase beta was significantly higher than that of idursulfase (79.4 ± 0.9 vs. 68.1 ± 2.2 %, P < 0.001). In accordance with the FGly content, the specific enzyme activity of idursulfase beta was significantly higher than that of idursulfase (42.6 ± 1.1 vs. 27.8 ± 0.9 nmol/min/μg protein, P < 0.001). The levels of M6P and sialic acid were not significantly different (2.4 ± 0.1 vs 2.4 ± 0.3 mol/mol protein for M6P and 12.3 ± 0.7 vs. 12.4 ± 0.4 mol/mol protein for sialic acid). However, the cellular uptake activity of the normal human fibroblasts in vitro showed a significant difference (Kuptake, 5.09 ± 0.96 vs. 6.50 ± 1.28 nM protein, P = 0.017).In conclusion, idursulfase beta exhibited significantly higher specific enzyme activity than idursulfase, resulting from higher FGly content. These biochemical differences may be partly attributed to clinical efficacy. However, long-term clinical evaluations of Hunter syndrome patients treated with these two enzymes will be needed to demonstrate the clinical implications of significant difference of the enzyme activity and the FGly content.

Bortezomib-induced Sweet's syndrome confirmed by rechallenge.

PubMed

Zobniw, Chrystia M; Saad, Samira A; Kostoff, Diana; Barthel, Bernd G

2014-01-01

Sweet's syndrome, also known as acute febrile neutrophilic dermatosis, is characterized predominantly by fever, elevated neutrophil count, and erythematous skin lesions composed of plaques and nodules that appear on upper extremities, face, or neck. The incidence of Sweet's syndrome in the general population is unknown due to the rarity of the condition and potential lack of reporting. Bortezomib, an antineoplastic agent that is the standard of care in patients with multiple myeloma, has been reported to be associated with Sweet's syndrome. We describe a 69-year-old man who developed Sweet's syndrome during his initial course (after cycle 4) of bortezomib for treatment of multiple myeloma; he again experienced Sweet's syndrome 3.5 years later when rechallenged with bortezomib (after cycle 5) for treatment of relapsed multiple myeloma. The patient's signs, symptoms, and biopsy results were identical during both presentations of Sweet's syndrome. In both instances, the syndrome spontaneously resolved without incident and without supportive treatment with corticosteroids or antihistamines. To our knowledge, this is the first case report of a patient who developed Sweet's syndrome during an initial course of treatment with bortezomib and after rechallenge with bortezomib for relapsed disease. As proteasome inhibitors continue to be a mainstay of therapy for both treatment and salvage therapy for multiple myeloma, this case demonstrates that rechallenge with bortezomib is an option for patients who develop Sweet's syndrome. © 2013 American College of Clinical Pharmacy.

Marfan Syndrome: A Clinical Update.

PubMed

Bitterman, Adam D; Sponseller, Paul D

2017-09-01

Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

[Therapy with recombinant growth hormone].

PubMed

Wabitsch, Martin

2007-06-07

Therapy with recombinant growth hormone is currently approved for the indications growth hormone deficiency,Turner syndrome, chronic renal failure, small for gestational age (SGA) and Prader-Willi syndrome. Positive experience from on-going clinical studies (e.g. on obesity, type 2 diabetes, Crohn's disease) support an extended range of applications for recombinant growth hormone. However, growth hormone therapy is very expensive. On the other hand, biosimilars are already available that are significantly lower in price. During the coming years, research must show whether the efficacy and safety of biosimilars (including possible new indications) are equal to that of the established preparations.

Impact of CYP2C19 genetic testing on provider prescribing patterns for antiplatelet therapy after acute coronary syndromes and percutaneous coronary intervention.

PubMed

Desai, Nihar R; Canestaro, William J; Kyrychenko, Pavlo; Chaplin, Donald; Martell, Lori A; Brennan, Troyen; Matlin, Olga S; Choudhry, Niteesh K

2013-11-01

Patients treated with clopidogrel who have ≥1 loss of function alleles for CYP2C19 have an increased risk for adverse cardiovascular events. In 2010, the US Food and Drug Administration issued a boxed warning cautioning against the use of clopidogrel in such patients. We sought to assess the impact of CYP2C19 genetic testing on prescribing patterns for antiplatelet therapy among patients with acute coronary syndrome or percutaneous coronary intervention. Patients with recent acute coronary syndrome or percutaneous coronary intervention prescribed clopidogrel were offered CYP2C19 testing. Genotype and phenotype results were provided to patients and their physicians, but no specific treatment recommendations were suggested. Patients were categorized based on their genotype (carriers versus noncarriers) and phenotype (extensive, intermediate, and poor metabolizers). The primary outcome was intensification in antiplatelet therapy defined as either dose escalation of clopidogrel or replacement of clopidogrel with prasugrel. Between July 2010 and April 2012, 6032 patients were identified, and 499 (8.3%) underwent CYP2C19 genotyping, of whom 146 (30%) were found to have ≥1 reduced function allele, including 15 (3%) with 2 reduced function alleles. Although reduced function allele carriers were significantly more likely than noncarriers to have an intensification of their antiplatelet therapy, only 20% of poor metabolizers of clopidogrel had their antiplatelet therapy intensified. Providers were significantly more likely to intensify antiplatelet therapy in CYP2C19 allele carriers, but only 20% of poor metabolizers of clopidogrel had an escalation in the dose of clopidogrel or were switched to prasugrel. These prescribing patterns likely reflect the unclear impact and evolving evidence for clopidogrel pharmacogenomics.

Behavioral Disorders, Learning Disabilities and Megavitamin Therapy.

ERIC Educational Resources Information Center

LaPerchia, Phyllis

1987-01-01

Presents findings from several sources that give results of research in megavitamin nutritional therapy. Examines vitamin therapy in learning disabilities in general, schizophrenia, autism, mental retardation and Down's syndrome, and hyperkinesis. Concludes that holistic approach to treatment is needed and that vitamin therapy, if proven…

Anti-Műllerian hormone – a prognostic marker for metformin therapy efficiency in the treatment of women with infertility and polycystic ovary syndrome

PubMed Central

Neagu, M; Cristescu, C

2012-01-01

Background: The anti- Műllerian hormone (AMH) is secreted in women exclusively by the granulosa cells of the ovarian follicles. The serum level of AMH is a precise marker of follicle pool size. In recent clinical studies of polycystic ovary syndrome (PCOS), the serum levels of AMH were elevated about two to threefold. The use of metformin in women with infertility and PCOS has proved to be efficient: restoring ovulation and reducing metabolic dysfunctions. The aim of our study is to assess AMH as a prognostic marker for metformin therapy efficiency in the treatment of women with infertility and polycystic ovary syndrome (PCOS). Methods: Eleven patients with infertility and PCOS were enrolled; PCOS was diagnosed according to the criteria of Androgen Excess and Polycystic Ovarian Syndrome Society 2006 (AE/PCOS). All patients have received metformin therapy. Serum AMH was recorded before and after 2 months of treatment; the normal laboratory values were 2.0-6.8 ng/ml. Results: The primary serum AMH level of all women in study was very high: 8.99±0.99 ng/ml. After 2 months of treatment with metformin ovulation was restored in all the patients and the serum AMH levels were significantly decreased. Conclusions: In clinical practice, serum AMH levels of women with infertility and PCOS receiving metformin are a useful predictive marker for the treatment efficiency. PMID:23346251

Treatment of Adrenocorticotropin-Dependent Cushing’s Syndrome: A Consensus Statement

PubMed Central

Biller, B. M. K.; Grossman, A. B.; Stewart, P. M.; Melmed, S.; Bertagna, X.; Bertherat, J.; Buchfelder, M.; Colao, A.; Hermus, A. R.; Hofland, L. J.; Klibanski, A.; Lacroix, A.; Lindsay, J. R.; Newell-Price, J.; Nieman, L. K.; Petersenn, S.; Sonino, N.; Stalla, G. K.; Swearingen, B.; Vance, M. L.; Wass, J. A. H.; Boscaro, M.

2008-01-01

Objective: Our objective was to evaluate the published literature and reach a consensus on the treatment of patients with ACTH-dependent Cushing’s syndrome, because there is no recent consensus on the management of this rare disorder. Participants: Thirty-two leading endocrinologists, clinicians, and neurosurgeons with specific expertise in the management of ACTH-dependent Cushing’s syndrome representing nine countries were chosen to address 1) criteria for cure and remission of this disorder, 2) surgical treatment of Cushing’s disease, 3) therapeutic options in the event of persistent disease after transsphenoidal surgery, 4) medical therapy of Cushing’s disease, and 5) management of ectopic ACTH syndrome, Nelson’s syndrome, and special patient populations. Evidence: Participants presented published scientific data, which formed the basis of the recommendations. Opinion shared by a majority of experts was used where strong evidence was lacking. Consensus Process: Participants met for 2 d, during which there were four chaired sessions of presentations, followed by general discussion where a consensus was reached. The consensus statement was prepared by a steering committee and was then reviewed by all authors, with suggestions incorporated if agreed upon by the majority. Conclusions: ACTH-dependent Cushing’s syndrome is a heterogeneous disorder requiring a multidisciplinary and individualized approach to patient management. Generally, the treatment of choice for ACTH-dependent Cushing’s syndrome is curative surgery with selective pituitary or ectopic corticotroph tumor resection. Second-line treatments include more radical surgery, radiation therapy (for Cushing’s disease), medical therapy, and bilateral adrenalectomy. Because of the significant morbidity of Cushing’s syndrome, early diagnosis and prompt therapy are warranted. PMID:18413427

Hepatopathy-thrombocytopenia syndrome after actinomycin-D therapy: treatment with defibrotide.

PubMed

Martín-Lázaro, Juan F; Palanca, Daniel; Garcia-Iñiguez, Juan P; Madurga, Paula; Carboné, Ana

2013-02-01

We report a case of administration compassionate use defibrotide in a 13-year-old girl with Sinusoidal Obstructive Syndrome and thrombocytopenia, also known as Hepatopathy--Thrombocytopenia Syndrome (HTS) during chemotherapy for Wilms' tumor.

Long-term outcomes of intravesical dimethyl sulfoxide/heparin/hydrocortisone therapy for interstitial cystitis/bladder pain syndrome.

PubMed

Lim, Yik N; Dwyer, Peter; Murray, Christine; Karmakar, Debjyoti; Rosamilia, Anna; Thomas, Elizabeth

2017-07-01

For decades, intravesical dimethyl sulfoxide (DMSO) cocktail therapy has been used for the treatment of interstitial cystitis/bladder pain syndrome (IC/BPS), but little is known about its long-term efficacy. We aimed to assess the long-term efficacy of intravesical DMSO/heparin/hydrocortisone/bupivacaine therapy in patients with IC/BPS. Patients with IC/BPS from our institutions who underwent this therapy with >2 years follow-up were surveyed with O'Leary-Sant interstitial cystitis symptom and problem index questionnaires before and after therapy. Chart reviews and telephone surveys were then conducted to determine their posttherapy course. Of 68 eligible women, 55 (80.0%) with a median follow-up of 60 months (range 24-142) were surveyed. Their mean age at therapy onset was 44.8 years and their mean body mass index was 26.2 kg/m 2 . There were statistically significant improvements in O'Leary-Sant and pain scores of 23-47% at both 6 weeks and the end of the follow-up period. At the end of the follow-up period, 19 of the 55 women (34.5%) were cured (requiring no further treatment) and 12 (21.8%) were significantly improved (requiring only ongoing oral medication). Univariate and multivariate analyses showed that DMSO treatment failure was more likely in patients with pretreatment day-time urinary frequency more than 15 episodes per day (OR 1.41), nocturia more than two episodes per night (OR 2.47), maximum bladder diary voided volume <200 ml (OR 1.39) and bladder capacity under anaesthesia <500 ml (OR 1.6). At a median follow-up of 60 months, intravesical DMSO cocktail therapy appeared moderately effective for the treatment of IC/BPS. Treatment failure was more frequent in patients with pretreatment symptoms of reduced bladder capacity.

Surfactant Therapy of ALI and ARDS

PubMed Central

Raghavendran, K; Willson, D; Notter, RH

2011-01-01

This article examines exogenous lung surfactant replacement therapy and its utility in mitigating clinical acute lung injury (ALI) and the acute respiratory distress syndrome (ARDS). Biophysical research has documented that lung surfactant dysfunction can be reversed or mitigated by increasing surfactant concentration, and multiple studies in animals with ALI/ARDS have shown that respiratory function and pulmonary mechanics in vivo can be improved by exogenous surfactant administration. Exogenous surfactant therapy is a routine intervention in neonatal intensive care, and is life-saving in preventing or treating the neonatal respiratory distress syndrome (NRDS) in premature infants. In applications relevant for lung injury-related respiratory failure and ALI/ARDS, surfactant therapy has been shown to be beneficial in term infants with pneumonia and meconium aspiration lung injury, and in children up to age 21 with direct pulmonary forms of ALI/ARDS. However, extension of exogenous surfactant therapy to adults with respiratory failure and clinical ALI/ARDS remains a challenge. Coverage here reviews clinical studies of surfactant therapy in pediatric and adult patients with ALI/ARDS, particularly focusing on its potential advantages in patients with direct pulmonary forms of these syndromes. Also discussed is the rationale for mechanism-based therapies utilizing exogenous surfactant in combination with agents targeting other aspects of the multifaceted pathophysiology of inflammatory lung injury. Additional factors affecting the efficacy of exogenous surfactant therapy in ALI/ARDS are also described, including the difficulty of effectively delivering surfactants to injured lungs and the existence of activity differences between clinical surfactant drugs. PMID:21742216

Long-QT Syndrome and Therapy for Attention Deficit/Hyperactivity Disorder.

PubMed

Zhang, Claire; Kutyifa, Valentina; Moss, Arthur J; McNitt, Scott; Zareba, Wojciech; Kaufman, Elizabeth S

2015-10-01

Stimulants are the mainstay therapy for attention deficit/hyperactivity disorder (ADHD) and are associated with adrenergic side effects. There are limited data on the clinical course of patients treated for ADHD who have long-QT syndrome (LQTS), for which β-blockade is the goal of therapy. LQTS patients from the Rochester-based LQTS Registry (open-enrollment between 1979 and 2003; follow-up from 1979 to present) treated with stimulant or nonstimulant ADHD medications (n = 48) were compared to a 2:1 age-, gender-, and QTc-duration matched LQTS control group not exposed to ADHD medications (n = 96). Kaplan-Meier and Cox proportional hazards regression analyses were used to evaluate risk of cardiac events (syncope, aborted cardiac arrest, and sudden cardiac death) in LQTS patients treated with ADHD medications. During a mean follow-up of 7.9 ± 5.4 years after initiation of ADHD medication at a mean age 10.7 ±7.3 years, there was a 62% cumulative probability of cardiac events in the ADHD treatment group compared to 28% in the matched LQTS control group (P < 0.001). Time-dependent use of ADHD medication was associated with an increased risk for cardiac events (HR = 3.07; P = 0.03) in the multivariate Cox model adjusted for time-dependent β-blocker use and prior cardiac events. Subgroup gender analyses showed that time-dependent ADHD medication was associated with an increased risk in male LQTS patients (HR = 6.80, P = 0.04). LQTS patients treated with ADHD medications have increased risk for cardiac events, particularly syncope, and this risk is augmented in males. The findings highlight the importance of heightened surveillance for LQTS patients on ADHD medications. © 2015 Wiley Periodicals, Inc.

[Psychosomatic aspects of dry eye syndrome].

PubMed

Nepp, J

2016-02-01

Patients with dry eye syndrome are known to suffer from anxiety and depression. Analysis of psychological disorders in therapy-resistant dry eye syndrome. A retrospective analysis of the training for interactive psychiatric screening (TRIPS) questionnaire from 110 patients with therapy-resistant dry eye syndrome was carried out. The results of the questionnaire allow the diagnosis of psychological disorders and vegetative disorders. Patients were divided into groups with anxiety, depression, mixed diagnoses, vegetative disorders and no diagnosis. A sicca score was used for assessment of dryness comprising the Schirmer test, measurement of tear meniscus, break up time, lipid layer thickness, the use of fluorescein and rose bengal staining tests and the subjective visual analogue scale. The diagnosis of dry eye syndrome was compared with the psychological disorders of anxiety and depression. Of the patients 52.7 % had psychological disorders with anxiety in 21.8 %, depression in 15.3 %, mixed diagnoses in 14.5 %, dystonia in 25.4 % and in 22.7 % no psychological disorders were diagnosed. General anxiety was frequent and panic disorders were often associated with other kinds of anxiety. Severe depression, such as bipolar disorder was rare. Dry eye scores were highest in the mixed group (0.59), and lowest in the group with mild anxiety (0.38). No single sicca phase disorder could be correlated with any of the psychological diagnoses. Patients with therapy-resistant dry eye syndrome often suffer from anxiety and depression. The psychological stress acts on the nervous system to suppress lacrimal gland function. Further investigation of the correlation between the lacrimal tear film phase and psychological disorders is recommended. Knowledge of personality disorders may allow psychological support that would improve the treatment options for dry eye syndrome.

[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].

PubMed

Conte, Elena; Imbrici, Paola; Sahbani, Dalila; Liantonio, Antonella; Conte, Diana

2018-05-01

Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. Specific therapy for BS is lacking and the only pharmacotherapy up today available is purely symptomatic and characterized by limiting side effects. The improvement of our understanding of the phenotype/genotype correlation and of the precise pathogenic mechanisms associated with BS type 3 as well as the pharmacological characterization of ClC-K chloride channels are fundamental to design therapies tailored upon patients' mutation. This mini review focused on recent studies representing relevant forward steps in the field as well as noteworthy examples of how basic and clinical research can cooperate to gain insight into the pathophysiology of this renal channelopathy, paving the way for a personalized therapy. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures.

PubMed

Veerapandiyan, Aravindhan; Singh, Piyush; Mikati, Mohamad A

2012-03-01

Oxcarbazepine has been reported to precipitate myoclonic, generalised tonic-clonic, absence, and complex partial seizures, and carbamazepine to precipitate absences, myoclonic seizures and spasms. Here, we report a one-year, six-month-old girl with complex partial seizures who developed infantile spasms, developmental regression, and hypsarrhythmia during the two weeks directly following initiation of oxcarbazepine (14 mg/kg/day). All of these resolved within a few days after discontinuation of this medication. Although we cannot rule out that the above association may have been coincidental, or that the improvement may have been due to concurrent therapy, this case raises the possibility that oxcarbazepine, like carbamazepine, may precipitate infantile spasms and West syndrome.

Re-examining Nelson's syndrome.

PubMed

Palermo, Nadine E; Ananthakrishnan, Sonia

2015-08-01

Nelson's syndrome is a rare complication that can occur during the course of management of Cushing's disease. This article summarizes the recent literature on the diagnosis, monitoring and treatment of this potentially life-threatening outcome. Nelson's syndrome, with rising adrenocorticotropin hormone levels and corticotroph tumor progression on diagnostic imaging, can develop following treatment of refractory Cushing's disease with total bilateral adrenalectomy with/without radiotherapy. However, data showing that radiotherapy prevents Nelson's syndrome is inconsistent. In addition to the treatment of Nelson's syndrome with neurosurgery with/without adjuvant radiotherapy, selective somatostatin analogs and dopamine agonists, as well as other novel agents, have been used with increasing frequency in treating cases of Nelson's syndrome with limited benefit. The risk-benefit profile of each of these therapies is still not completely understood. Consensus guidelines on the evaluation and management of Nelson's syndrome are lacking. This article highlights areas in the surveillance of Cushing's disease patients, and diagnostic criteria and treatment regimens for Nelson's syndrome that require further research and review by experts in the field.

Utilization of manual therapy to the lumbar spine in conjunction with traditional conservative care for individuals with bilateral lower extremity complex regional pain syndrome: A case series.

PubMed

Walston, Zachary; Hernandez, Luis; Yake, Dale

2018-06-06

Conservative therapies for complex regional pain syndrome (CRPS) have traditionally focused on exercise and desensitization techniques targeted at the involved extremity. The primary purpose of this case series is to report on the potential benefit of utilizing manual therapy to the lumbar spine in conjunction with traditional conservative care when treating patients with lower extremity CRPS. Two patients with the diagnosis of lower extremity CRPS were treated with manual therapy to the lumbar spine in conjunction with education, exercise, desensitization, and soft tissue techniques for the extremity. Patient 1 received 13 sessions over 6 weeks resulting in a 34-point improvement in oswestry disability index (ODI) and 35-point improvement in lower extremity functional scale (LEFS). Patient 2 received 21 sessions over 12 weeks resulting in a 28-point improvement in ODI and a 41-point improvement in LEFS. Both patients exhibited reductions in pain and clinically meaningful improvements in function. Manual therapies when applied to the lumbar spine in these patients as part of a comprehensive treatment plan resulted in improved spinal mobility, decreased pain, and reduction is distal referred symptoms. Although one cannot infer a cause and effect relationship from a case series, this report identifies meaningful clinical outcomes potentially associated with manual physical therapy to the lumbar spine for two patients with complex regional pain syndrome type 1.

[Complementary and alternative therapies for fibromyalgia syndrome. Systematic review, meta-analysis and guideline].

PubMed

Langhorst, J; Häuser, W; Bernardy, K; Lucius, H; Settan, M; Winkelmann, A; Musial, F

2012-06-01

The scheduled update to the German S3 guidelines on fibromyalgia syndrome (FMS) by the Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF; registration number 041/004) was planned starting in March 2011. The development of the guidelines was coordinated by the German Interdisciplinary Association for Pain Therapy ("Deutsche Interdisziplinären Vereinigung für Schmerztherapie", DIVS), 9 scientific medical societies and 2 patient self-help organizations. Eight working groups with a total of 50 members were evenly balanced in terms of gender, medical field, potential conflicts of interest and hierarchical position in the medical and scientific fields. Literature searches were performed using the Medline, PsycInfo, Scopus and Cochrane Library databases (until December 2010). The grading of the strength of the evidence followed the scheme of the Oxford Centre for Evidence-Based Medicine. The recommendations were based on level of evidence, efficacy (meta-analysis of the outcomes pain, sleep, fatigue and health-related quality of life), acceptability (total dropout rate), risks (adverse events) and applicability of treatment modalities in the German health care system. The formulation and grading of recommendations was accomplished using a multi-step, formal consensus process. The guidelines were reviewed by the boards of the participating scientific medical societies. Meditative movement therapies (qi gong, tai chi, yoga) are strongly recommended. Acupuncture can be considered. Mindfulness-based stress reduction as monotherapy and dance therapy as monotherapy are not recommended. Homeopathy is not recommended. In a minority vote, homeopathy was rated as "can be considered". Nutritional supplements and reiki are not recommended. The English full-text version of this article is available at SpringerLink (under "Supplemental").

COMBINATION THERAPY EFFECTIVENESS OF EZETIMIBE AND ATORVASTATIN IN PATIENTS WITH ACUTE CORONARY SYNDROME.

PubMed

Japaridze, L; Sadunishvili, M; Megreladze, I

2016-03-01

Atorvastatin reduces low-density lipoprotein (LDL) cholesterol levels and the risk of cardiovascular events, but whether the addition of ezetimibe (EZE) , a nonstatin drug that reduces intestinal cholesterol absorption, can reduce the rate of cardiovascular events further is not known. We conducted a 16-week one-center, prospective, randomized, and open-label clinical trial, involving 323 patients who had been hospitalized for an acute coronary syndrome within the preceding 14 days. They were received atorvastatin 20 mg during 28 days and after that 292 patients, who had LDL cholesterol levels≥1.81 mmol/L, were randomized to ezetimibe 10 mg/day co-administered with atorvastatin therapy (EZE+Statin) or doubling their current atorvastatin dose. 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. At 16 weeks, the mean LDL cholesterol level during the study was 1.60 mmol per liter in the atorvastatine-ezetimibe group, as compared with 1.91 mmol per liter in the atorvastatin-monotherapy group (p<0.001). The Kaplan-Meier survival rate at 16 weeks were 88 .1 % in the atorvastatin-ezetimibe group and 77.0 % in the atorvastatin monotherapy group (absolute risk reduction, 11.1 percentage points; hazard ratio, 2.099 ; 95% confidence interval, 1.165 to 3.781; p=0.014). Patients receiving ezetimibe and statin were more likely to achieve target LDL-C after 16 weeks compared to patients doubling their statin dose. When added to statin therapy, ezetimibe resulted in incremental lowering of LDL cholesterol levels and improved cardiovascular outcomes. Ezetimibe/statin combination therapy was well tolerated among this patients, without safety concerns.

Statin therapy for acute respiratory distress syndrome: an individual patient data meta-analysis of randomised clinical trials.

PubMed

Nagendran, Myura; McAuley, Daniel F; Kruger, Peter S; Papazian, Laurent; Truwit, Jonathon D; Laffey, John G; Thompson, B Taylor; Clarke, Mike; Gordon, Anthony C

2017-05-01

We performed an individual patient data meta-analysis to assess the possible benefits and harms of statin therapy in adults with acute respiratory distress syndrome (ARDS) and to investigate effects in specific ARDS subgroups. We identified randomised clinical trials up to 31 October 2016 that had investigated statin therapy versus placebo in patients with ARDS. Individual patient data from each trial were compiled. Conventional two-stage meta-analyses were performed for primary and secondary outcomes, and one-stage regression models with single treatment-covariate interactions for subgroup analyses. Risk of bias was assessed using the Cochrane Risk of Bias Tool. Six trials with a total of 1755 patients were included. For the primary outcomes, there was no significant effect of statin therapy on 28-day mortality [relative risk (RR) 1.03, 95% CI 0.86-1.23], ventilator-free days (mean difference 0.34 days, 95% CI -0.68 to 1.36) or serious adverse events (RR 1.14, 95% CI 0.84-1.53). There was a significantly increased incidence of raised serum creatine kinase or transaminase levels with statin therapy (106/879; 12.1%) versus control (78/876; 8.9%) (RR 1.40, 95% CI 1.07-1.83, p = 0.015). There were no significant treatment-covariate interactions in the predefined subgroups investigated. We found no clinical benefit from initiation of statin therapy in adult patients with ARDS, either overall or in predefined subgroups. While there was an increased incidence of raised serum creatine kinase and transaminase levels, there was no difference in serious adverse events among groups. Therefore, we do not recommend initiation of statin therapy for the treatment of ARDS.

Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.

PubMed

Ozen, Seza; Demir, Selcan

2017-08-01

Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.

Prader-Willi syndrome: A primer for clinicians

PubMed Central

2011-01-01

The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances in hormone replacement therapy, particularly growth hormone children born in circumstances where therapy is available are expected to have an improved quality of life as compared to those born prior to growth hormone. This manuscript was prepared as a primer for clinicians-to serve as a resource for those of you who care for children and adults with Prader-Willi syndrome on a daily basis in your practices. Appropriate and anticipatory interventions can make a difference. PMID:22008714

Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study

PubMed Central

2009-01-01

Introduction The acronym SAPHO was introduced in 1987 to unify the various descriptions of a seronegative arthritis associated with skin manifestations and to show synovitis, acne, pustulosis, hyperostosis, and osteitis with and without sterile multifocal osteomyelitis. The etiology of SAPHO syndrome is unknown, but an association with infection by semipathogenic bacteria like Propionibacterium acnes has been suggested. We conducted an interventional study of SAPHO patients receiving antibiotics. Methods Thirty-seven patients met the clinical criteria of SAPHO syndrome, 21 of them underwent a needle biopsy of the osteitis lesion, and 14 of them showed positive bacteriological cultures for P. acnes. Thirty patients (14 bacteriological positive and 16 without biopsy) were treated with antibiotics for 16 weeks. The activity of skin disease and osteitis were assessed by a physician using a scoring model (from 0 to 6). In addition, patients completed a Health Assessment Score (HAS, from 0 to 6). The erythrocyte sedimentation rate was determined and a MRI (of the osteitis lesion, radiologic activity score from 0 to 2) was performed in week 1 (W1), week 16 (W16), and week 28 (W28, 12 weeks after antibiotics). Results Twenty-seven patients continued the medication (azithromycin, n = 25, 500 mg twice a week; clindamycin, n = 1, 300 mg daily; or doxycycline, n = 1, 100 mg daily) for 16 weeks. After W16 the scores for MRI (1.5 to 1.1, P = 0.01), skin activity (3.2 to 1.2, P = 0.01), osteitis activity (4.0 to 2.1, P = 0.02), and HAS (3.3 to 2.1, P = 0.01) decreased significantly. However, this was followed by increasing values for MRI scores (1.2 to 1.4, P = 0.08), skin activity (1.2 to 1.7, P = 0.11), osteitis activity (1.9 to 2.7, P = 0.01), and HAS (2.2 to 3.3, P = 0.02) from W16 to W28. The comparison of the scores in W1 and W28 in these 12 patients showed no significant differences. Conclusions For the period of application, the antibiotic therapy seems to have controlled

The acute phase reactant, fibrinogen, as a guide to plasma exchange therapy for acute Guillain-Barré syndrome.

PubMed

Sanjay, Rashmi; Flanagan, Janice; Sodano, Donata; Gorson, Kenneth C; Ropper, Allan H; Weinstein, Robert

2006-07-01

The Guillian Barré syndrome is an acute inflammatory disorder for which plasma exchange is effective treatment. Up to 10% relapse after plasma exchange suggesting that treatment sometimes finishes before disease activity has resolved. We studied whether plasma fibrinogen, an inflammatory marker, might be used to determine when to discontinue plasma exchange in patients with acute Guillain-Barré syndrome. We conducted a post-hoc analysis of apheresis database and hospital records of patients treated with plasma exchange for acute Guillain-Barré syndrome during 1999-2004. Data were analyzed from 28 patients who underwent a total of 29 courses of plasma exchange for acute Guillain-Barré syndrome. The mean (+/-SD) plasma fibrinogen concentration was 422.5 (+/-96.4) mg/dl at the time of presentation and, in 17 of the 29, it was above 400 mg/dl (reference range 200-400). Twenty of the 21 patients whose fibrinogen fell by more than 30% from baseline by the time of the final plasma exchange treatment had neurological improvement. There was improvement in only 3 of the 8 instances where fibrinogen decreased by less than 30% by the end of plasma exchange therapy. A > or =30% decrease in fibrinogen by the conclusion of plasma exchange was significantly associated with sustained neurological improvement (P = 0.0025). The plasma fibrinogen level appears to reflect disease activity in acute Guillain-Barré syndrome. A <30% fall in fibrinogen level despite plasma exchange may indicate the need to continue plasma exchange to maximize the benefit of treatment or minimize the risk of relapse. Therapeutic plasma exchange need not be extended when plasma fibrinogen remains > or =30% below its level at presentation by the time of the final planned plasma exchange procedure.

Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome.

PubMed

Gondoni, L A; Vismara, L; Marzullo, P; Vettor, R; Liuzzi, A; Grugni, G

2008-09-01

Prader-Willi syndrome (PWS) is associated with an inappropriate proportion of fat mass (FM) to non-FM compared to simple obesity. Altered body composition in PWS resembles that seen in subjects with GH deficiency, in which a reduction of lean body mass (LBM) is observed. The low LBM may contribute to the reduced motor skills seen in PWS patients. The objective of the study was to investigate the effects of GH therapy on exercise capacity and body composition in a group of adult subjects with PWS. Twelve PWS adults (7 males and 5 females, aged 26.4+/-4.4 yr, body mass index 44.3+/-4.6 kg/m2) participated in the study. Body composition analysis and exercise stress test were carried out throughout the 12 months GH therapy. Body composition was measured by Dual Energy X-ray Absorptiometry. Physical performance was evaluated using treadmill exercise test. Exercise intensity was expressed as metabolic equivalents (MET, 1 MET= 3.5 ml O2 kg(-1) min(-1)). Statistical analysis was performed by repeated-measures analysis of variance followed by post-hoc analysis with t test for paired data for comparisons among the different follow ups. Compared to baseline GH therapy increased LBM at 6 (p<0.0001) and 12 months (p<0.005) (45.3+/-7.7 kg vs 48.6+/-6.7 kg vs 48.2+/-7.5 kg). FM% was significantly reduced both after 6 and 12 months (p<0.02) (56.1+/-4.8% vs 53.7+/-4.2% vs 53.3+/-4.8%). Attained MET were found to be improved by 16% after 6 months and by 19% after 12 months of GH (p<0.001), while the small further rise between 6 and 12 months was not significant. Our findings seem to support the view that GH therapy has beneficial effects on physical activity and agility as well as on body composition of adult patients with PWS.

[A patient with Noonan syndrome].

PubMed

Bins, A; Gortzak, R A Th

2013-12-01

Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.

Long-Term Response of Hirsutism and Other Hyperandrogenic Symptoms to Combination Therapy in Polycystic Ovary Syndrome.

PubMed

Ezeh, Uche; Huang, Andy; Landay, Melanie; Azziz, Ricardo

2018-06-07

Polycystic ovary syndrome (PCOS) affects 5%-15% of women and is the most common cause of hirsutism. Data on the time-course of improvement to suppressive therapy and predictors of that response in PCOS are lacking. The objectives of our study are to determine the long-term response and identify predictors of response in PCOS women treated with suppressive therapy, including spironolactone (SPL) + oral contraceptives (OCs). Retrospective cross-sectional analysis of 200 women with PCOS (1990 NIH criteria) treated with suppressive therapy in general, and a subgroup of 138 subjects treated with OCP+SPL who had been prospectively included in a biorepository. Main outcome measure included improvement rate per 100 person-month of follow-up for hirsutism, menstrual irregularity and acne measured qualitatively as "feeling better", and changes in the severity of hirsutism quantified by modified Ferriman-Gallwey [mF-G] score. During a mean follow-up of 34.2 months, 85.1%, 82.7%, and 79.3% of patients reported improvement in hirsutism, menstrual dysfunction, and acne, respectively. The modified Ferriman-Gallwey (mF-G) hirsutism score improved by 59.9%. The net reduction in mF-G score and the percent of patients reporting improvement in hirsutism were greater for OC+SPL than for either drug alone, with no difference in the percent of patients free of adverse effects. Among those treated with OC+SPL (n = 138), the initial mF-G and sex hormone-binding globulin (SHBG) independently predicted successful therapy for hirsutism. There is a high rate of patient satisfaction with suppressive therapy in PCOS. The efficacy of suppressive therapy for hirsutism was greater with OC+SPL than with either drug alone. Successful treatment of hirsutism with combination OC+SPL requires at least 6 months of therapy, with the proportion of satisfied patients continuing to increase with treatment duration. The probability of patient satisfaction with OC+SPL treatment for hirsutism can be

[The exploding head syndrome].

PubMed

Bongers, K M; ter Bruggen, J P; Franke, C L

1991-04-06

The case is reported of a 47-year old female suffering from the exploding head syndrome. This syndrome consists of a sudden awakening due to a loud noise shortly after falling asleep, sometimes accompanied by a flash of light. The patient is anxious and experiences palpitations and excessive sweating. Most patients are more than fifty years of age. Further investigations do not reveal any abnormality. The pathogenesis is unknown, and no therapy other than reassurance is necessary.

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

PubMed Central

Klein-Tasman, Bonita P.

2013-01-01

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

SLE syndrome, probably induced by labetalol

PubMed Central

Brown, R. C.; Cooke, J.; Losowsky, M. S.

1981-01-01

A 45-year-old woman developed polyarthralgia and muscle tenderness after 6 months' therapy with labetalol 1800 mg daily. A raised ANF titre but normal DNA binding levels suggested a drug-induced SLE syndrome. Both symptoms and ANF titre improved when therapy was changed from labetalol to propranolol. PMID:6977135

Opioid dependence and substitution therapy: thymoquinone as potential novel supplement therapy for better outcome for methadone maintenance therapy substitution therapy

PubMed Central

Adnan, Liyana Hazwani Mohd; Bakar, Nor Hidayah Abu; Mohamad, Nasir

2014-01-01

Methadone is widely being used for opioid substitution therapy. However, the administration of methadone to opioid dependent individual is frequently accompanied by withdrawal syndrome and chemical dependency develops. Other than that, it is also difficult to retain patients in the treatment programme making their retention rates are decreasing over time. This article is written to higlights the potential use of prophetic medicines, Nigella sativa, as a supplement for opioid dependent receiving methadone. It focuses on the potential role of N. sativa and its major active compound, Thymoquinone (TQ) as a calcium channel blocking agent to reduce withdrawal syndrome and opioid dependency. PMID:25859295

HIV protease inhibitor-related lipodystrophy syndrome.

PubMed

Carr, A

2000-06-01

Human immunodeficiency virus (HIV) protease inhibitor (PI) therapy is frequently associated with a syndrome increasingly referred to as lipodystrophy syndrome, which is characterized by peripheral lipoatrophy, fat accumulation within the abdomen, in the breasts of women, and over the cervical vertebrae ("buffalo hump"), hyperlipidemia, and insulin resistance. In the largest study to date, peripheral lipoatrophy (an estimated 0.35-kg fat loss per month overall from the face, limbs, and upper trunk) was observed in association with all licensed PIs after a median 10 months of PI therapy. Diabetes mellitus type II appears to be a related, but less common, adverse effect. The lipodystrophy syndrome may be a result of the inhibition of 2 proteins involved in lipid metabolism that have significant homology to the catalytic site of HIV protease-namely, cytoplasmic retinoic acid binding protein type 1 and low density lipoprotein-receptor-related protein.

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

Anti-nanobacterial therapy for men with chronic prostatitis/chronic pelvic pain syndrome and prostatic stones: preliminary experience.

PubMed

Shoskes, Daniel A; Thomas, Kim D; Gomez, Eyda

2005-02-01

Category III chronic prostatitis/chronic pelvic pain syndrome (CPPS) is a common debilitating condition of unclear etiology. Patients often have prostatic calcifications but a link to symptoms is controversial. Nanobacteria are implicated in stone formation in the urinary tract and, therefore, therapy to eliminate nanobacteria and the stones that they produce might have an impact on CPPS symptoms. A total of 16 men with recalcitrant CPPS refractory to multiple prior therapies were treated with comET (Nanobac Life Sciences, Tampa, Florida), which consists of 500 mg tetracycline, a proprietary nutraceutical and an ethylenediaminetetraacetic acid suppository daily. The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI), transrectal ultrasound, and blood and urine tests for nanobacterial antigen were performed at the start and conclusion of 3 months of therapy. One patient was lost to followup. Mean NIH-CPSI total score +/- SD decreased from 25.7 +/- 1.6 to 13.7 +/- 2.0 (p <0.0001). Significant improvement was seen in each subscore domain. A total of 12 patients (80%) had at least 25% improvement on NIH-CPSI and 8 (53%) had at least 50% improvement. Nanobacterial antigen or antibody was found in 60% of serum and 40% of urine samples. In 10 patients who underwent transrectal ultrasound after therapy prostatic stones were decreased in size or resolved in 50%. Therapy designed to eliminate nanobacteria resulted in significant improvement in the symptoms of recalcitrant CPPS in the majority of men, whether due to the treatment of stone producing nanobacteria or through some other mechanism. Prospective placebo controlled trials are warranted.

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

PubMed Central

Ilkun, Olesya; Boudina, Sihem

2013-01-01

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

Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

PubMed Central

Li-Wan-Po, Alain; Loeys, Bart; Farndon, Peter; Latham, David; Bradley, Caroline

2011-01-01

The translational path from pharmacological insight to effective therapy can be a long one. We aim to describe the management of Marfan syndrome as a case-example of how pharmacological and genomic insights can contribute to improved therapy. We undertook a literature search for studies of Marfan syndrome, to identify milestones in description, understanding and therapy of the syndrome. From the studies retrieved we then weaved an evidence-based description of progress. Marfan syndrome shows considerable heterogeneity in clinical presentation. It relies on defined clinical criteria with confirmation based on FBN1 mutation testing. Surgical advances have prolonged life in Marfan syndrome. First-line prophylaxis of complications with β-adrenoceptor blockers became established on the basis that reduction of aortic pressure and heart rate would help. Over-activity of proteinases, first suggested in 1980, has since been confirmed by evidence of over-expression of matrix metalloproteinases (MMP), notably MMP-2 and MMP-9. The search for MMP inhibitors led to the evaluation of doxycycline, and both animal studies and small trials, provided early evidence that this widely used antimicrobial agent was useful. Identification of the importance of TGF-β led to evaluation of angiotensin II type I receptor (AT1R) blockers with highly promising results. Combination prophylactic therapy would appear rational. Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. If on-going well designed trials confirm their efficacy, the outlook for Marfan syndrome patients would be improved considerably. PMID:21276043

Temporomandibular joint dysfunction syndrome. A clinical report.

PubMed

Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

1985-08-01

We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.

PubMed

Zamarrón, Alicia; García, Marta; Río, Marcela Del; Larcher, Fernando; Juarranz, Ángeles

2017-09-29

PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes. Given the demonstrated role of cancer associated fibroblasts (CAFs) in tumor progression and the putative CAFs features of some cancer-prone genodermatoses fibroblasts, in this study, we have further characterized the phenotype of XP and GS dermal fibroblasts and evaluated their response to methyl-δ-aminolevulinic acid (MAL)-PDT compared to that of dermal fibroblasts obtained from healthy donors. We show here that XP/GS fibroblasts display clear features of CAFs and present a significantly higher response to PDT, even after being stimulated with UV light, underscoring the value of this therapeutic approach for these rare skin conditions and likely to other forms of skin cancer were CAFs play a major role.

Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients

PubMed Central

Zamarrón, Alicia; García, Marta; Río, Marcela Del; Larcher, Fernando; Juarranz, Ángeles

2017-01-01

PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes. Given the demonstrated role of cancer associated fibroblasts (CAFs) in tumor progression and the putative CAFs features of some cancer-prone genodermatoses fibroblasts, in this study, we have further characterized the phenotype of XP and GS dermal fibroblasts and evaluated their response to methyl-δ-aminolevulinic acid (MAL)-PDT compared to that of dermal fibroblasts obtained from healthy donors. We show here that XP/GS fibroblasts display clear features of CAFs and present a significantly higher response to PDT, even after being stimulated with UV light, underscoring the value of this therapeutic approach for these rare skin conditions and likely to other forms of skin cancer were CAFs play a major role. PMID:29100394

The low FODMAP diet: fundamental therapy in the management of irritable bowel syndrome.

PubMed

Ireton-Jones, Carol

2017-09-01

The low FODMAP diet is now recognized as first-line therapy for treatment of irritable bowel syndrome (IBS) symptoms including abdominal pain, gas, bloating, diarrhea and or constipation. This information must be disseminated for application to clinical practice. There are many people with IBS worldwide who can benefit from following the low FODMAP diet to alleviate or minimize symptoms. Clinical studies and trials demonstrating the positive outcomes of the low FODMAP diet have been based on diet education provided by dietitians. Understanding the types of carbohydrates that are high in FODMAPs and the associated symptoms, nutrition intervention can be targeted using the low FODMAP diet. The nutrition intervention is relatively in expensive, noninvasive and basically without side-effects if monitored by a dietitian and clinical team. Applying the low FODMAP diet in IBS can greatly improve health and quality of life outcomes by alleviating or significantly improves symptoms.

Antithrombotic Therapy in Patients with Acute Coronary Syndrome in the Intermountain Heart Collaborative Study

PubMed Central

Klaskala, Winslow; Woller, Scott C.; Horne, Benjamin D.; Bunch, T. Jared; Le, Viet T.; Mills, Roger M.; Muhlestein, Joseph B.

2015-01-01

Objective. To determine factors associated with single antiplatelet (SAP) or dual antiplatelet (DAP) therapy and anticoagulants (AC) use in hospital and after discharge among patients with acute coronary syndrome (ACS). Methods. We evaluated 5,294 ACS patients in the Intermountain Heart Collaborative Study from 2004 to 2009. Multivariable logistic regressions were used to determine predictors of AC or AP use. Results. In hospital, 99% received an AC, 79% DAP, and 19% SAP; 78% had DAP + AC. Coronary stents were the strongest predictors of DAP use in hospital compared to SAP (P < 0.001). After discharge, 77% received DAP, 20% SAP, and 9% AC; 5% had DAP + AC. DAP compared to SAP was less likely for patients on AC (odds ratio [OR] = 0.30, P < 0.0001) after discharge. Placement of a stent increased the likelihood of DAP (bare metal: OR = 54.8, P < 0.0001; drug eluting: OR = 59.4, P < 0.0001). 923 had atrial fibrillation and 337 had a history of venous thromboembolism; these patients had increased use of AC (29% and 40%, resp.). Conclusion. While in-hospital use of AC was nearly universal, postdischarge AC use was rare. Concern for providing the best antithrombotic therapy, while maintaining an acceptable bleeding risk, may explain the selection decisions. PMID:25632367

Streptococcus agalactiae Toxic Shock-Like Syndrome

PubMed Central

Al Akhrass, Fadi; Abdallah, Lina; Berger, Steven; Hanna, Rami; Reynolds, Nina; Thompson, Shellie; Hallit, Rabih; Schlievert, Patrick M.

2013-01-01

Abstract We present 2 patients with Streptococcus agalactiae toxic shock-like syndrome and review another 11 well-reported cases from the literature. Streptococcal toxic shock-like syndrome is a devastating illness with a high mortality rate, therefore we stress the importance of early supportive management, antimicrobial therapy, and surgical intervention. Toxic shock-like syndrome is likely to be underestimated in patients with invasive Streptococcus agalactiae infection who present with shock. Early diagnosis requires high suspicion of the illness, along with a thorough mucocutaneous examination. Streptococcus agalactiae produces uncharacterized pyrogenic toxins, which explains the ability of the organism to cause toxic shock-like syndrome. PMID:23263717

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

PubMed

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

2013-01-01

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

Management of moyamoya syndrome in patients with Noonan syndrome.

PubMed

Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Defibrotide for the treatment of sinusoidal obstruction syndrome: evaluation of response to therapy and patient outcomes.

PubMed

Coutsouvelis, John; Avery, Sharon; Dooley, Michael; Kirkpatrick, Carl; Spencer, Andrew

2018-03-01

Defibrotide is an agent used to treat sinusoidal obstruction syndrome (SOS/VOD) in patients undergoing haemopoietic stem cell transplantation. The aim of this study was to evaluate the effectiveness of defibrotide used within institutional guidelines for the treatment of SOS/VOD in patients undergoing haemopoietic stem cell transplantation (HSCT). Data for 23 patients was retrospectively reviewed to evaluate the effectiveness of defibrotide and the utility of response criteria to direct therapy as specified within institution guidelines. Patients met institutional criteria for a diagnosis of SOS/VOD based on predominantly Baltimore criteria and received defibrotide. Stabilisation or improvement in symptoms and biochemical markers was required for continuation of therapy with defibrotide. Overall, 14 patients responded to therapy. Survival at day 100 post HSCT was 70%. Median serum (total) bilirubin concentrations in all evaluable patients had decreased at days 5 and 10 (p < 0.001). There was a proportional reduction in median weight of 4% by day 5 and 6.6% by day 10 (p < 0.001). On cessation of defibrotide, there was a decrease in the proportion of patients exhibiting hepatomegaly (p = 0.02), ascites (p < 0.01) and requiring oxygen supplementation (p < 0.01), with 70% survival at day 100 post HSCT. Defibrotide to treat SOS/VOD and continued based on attainment of early response was effective management of this condition. Defibrotide should be considered in any consensus protocol providing guidance on the management of SOS/VOD, with future studies considered to assess appropriate time points for response to therapy during treatment.

Intractable bone marrow edema syndrome of the hip.

PubMed

Gao, Fuqiang; Sun, Wei; Li, Zirong; Guo, Wanshou; Kush, Nepali; Ozaki, Koji

2015-04-01

There is a need for an effective and noninvasive treatment for intractable bone marrow edema syndrome of the hip. Forty-six patients with intractable bone marrow edema syndrome of the hip were retrospectively studied to compare the short-term clinical effects of treatment with high-energy extracorporeal shock wave therapy vs femoral head core decompression. The postoperative visual analog scale score decreased significantly more in the extracorporeal shock wave therapy group compared with the femoral head core decompression group (P<.05). For unilateral lesions, postoperative Harris Hip Scores for all hips in the extracorporeal shock wave therapy group were more significantly improved than Harris Hip Scores for all hips in the femoral head core decompression group (P<.05). Patients who underwent extracorporeal shock wave therapy also resumed daily activities significantly earlier. Average overall operative time was similar in both groups. Symptoms disappeared significantly sooner in the extracorporeal shock wave therapy group in patients with both unilateral (P<.01) and bilateral lesions (P<.05). Hospital costs were significantly lower with extracorporeal shock wave therapy compared with femoral head core decompression. The intraoperative fluoroscopy radiation dose was lower in extracorporeal shock wave therapy than in femoral head core decompression for both unilateral (P<.05) and bilateral lesions (P<.01). On magnetic resonance imaging (MRI), bone marrow edema improved in all patients during the follow-up period. After extracorporeal shock wave therapy, all patients remained pain-free and had normal findings on posttreatment radiographs and MRI scans. Extracorporeal shock wave therapy appears to be a valid, reliable, and noninvasive tool for rapidly resolving intractable bone marrow edema syndrome of the hip, and it has a low complication rate and relatively low cost compared with other conservative and surgical treatment approaches. Copyright 2015, SLACK

Genetic testing in nephrotic syndrome--challenges and opportunities.

PubMed

Gbadegesin, Rasheed A; Winn, Michelle P; Smoyer, William E

2013-03-01

Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is responsible for only a small percentage of cases of nephrotic syndrome, but information from studies of the unique cohort of patients with this form of the disease has dramatically improved our understanding of the disease pathogenesis. The use of genetic testing in the management of children and adults with nephrotic syndrome poses unique challenges for clinicians in terms of who to test and how to use the information obtained from testing in the clinical setting. In our view, not enough data exist at present to justify the routine genetic testing of all patients with nephrotic syndrome. Testing is warranted, however, in patients with congenital nephrotic syndrome (onset at 0-3 months), infantile nephrotic syndrome (onset at 3-12 months), a family history of nephrotic syndrome, and those in whom nephrotic syndrome is associated with other congenital malformations. The family and/or the patient should be given complete and unbiased information on the potential benefits and risks associated with therapy, including the reported outcomes of treatment in patients with similar mutations. Based on the data available in the literature so far, intensive immunosuppressive treatment is probably not indicated in monogenic nephrotic syndrome if complete or partial remission has not been achieved within 6 weeks of starting treatment. We advocate that family members of individuals with genetic forms of nephrotic syndrome undergo routine genetic testing prior to living-related kidney transplantation. Prospective, multicentre studies are needed to more completely determine the burden of disease caused by monogenic nephrotic syndrome, and randomized controlled trials are needed to clarify the presence or absence of clinical responses of monogenic nephrotic syndrome to available therapies.

Marfan syndrome: current perspectives

PubMed Central

Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

2016-01-01

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

Marfan syndrome: current perspectives.

PubMed

Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

2016-01-01

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

[Urethral pain syndrome: fact or fiction--an update].

PubMed

Dreger, N M; Degener, S; Roth, S; Brandt, A S; Lazica, D A

2015-09-01

Urethral pain syndrome is a symptom complex including dysuria, urinary urgency and frequency, nocturia and persistent or intermittent urethral and/or pelvic pain in the absence of proven infection. These symptoms overlap with several other conditions, such as interstitial cystitis bladder pain syndrome and overactive bladder. Urethral pain syndrome may occur in men but is more frequent in women. The exact etiology is unknown but infectious and psychogenic factors, urethral spasms, early interstitial cystitis, hypoestrogenism, squamous metaplasia as well as gynecological risk factors are discussed. These aspects should be ruled out or confirmed in the diagnostic approach. Despite the assumption of a multifactorial etiology, pathophysiologically there is a common pathway: dysfunctional epithelium of the urethra becomes leaky which leads to bacterial and abacterial inflammation and ends in fibrosis due to the chronic impairment. The therapeutic approach should be multimodal using a trial and error concept: general treatment includes analgesia, antibiotics, alpha receptor blockers and muscle relaxants, antimuscarinic therapy, topical vaginal estrogen, psychological support and physical therapy. In cases of nonresponding patients intravesical and/or surgical therapy should be considered. The aim of this review is to summarize the preliminary findings on urethral pain syndrome and to elucidate the diagnostic and therapeutic options.

Crusted scabies-associated immune reconstitution inflammatory syndrome

PubMed Central

2012-01-01

Background Despite the widely accepted association between crusted scabies and human immunodeficiency virus (HIV)-infection, crusted scabies has not been included in the spectrum of infections associated with immune reconstitution inflammatory syndrome in HIV-infected patients initiating antiretroviral therapy. Case presentation We report a case of a 28-year-old Mexican individual with late HIV-infection, who had no apparent skin lesions but soon after initiation of antiretroviral therapy, he developed an aggressive form of crusted scabies with rapid progression of lesions. Severe infestation by Sarcoptes scabiei was confirmed by microscopic examination of the scale and skin biopsy. Due to the atypical presentation of scabies in a patient responding to antiretroviral therapy, preceded by no apparent skin lesions at initiation of antiretroviral therapy, the episode was interpreted for the first time as “unmasking crusted scabies-associated immune reconstitution inflammatory syndrome”. Conclusion This case illustrates that when crusted scabies is observed in HIV-infected patients responding to antiretroviral therapy, it might as well be considered as a possible manifestation of immune reconstitution inflammatory syndrome. Patient context should be considered for adequate diagnosis and treatment of conditions exacerbated by antiretroviral therapy-induced immune reconstitution. PMID:23181485

Effects of lifestyle intervention using patient-centered cognitive behavioral therapy among patients with cardio-metabolic syndrome: a randomized, controlled trial.

PubMed

Zhang, Ying; Mei, Songli; Yang, Rui; Chen, Ling; Gao, Hang; Li, Li

2016-11-18

Cardio-metabolic syndrome (CMS) is a highly prevalent condition. There is an urgent need to identify effective and integrated multi-disciplinary approaches that can reduce risk factors for CMS. Sixty-two patients with a history of CMS were randomized 1:1 into two groups: a standard information -only group (control), or a self-regulated lifestyle waist circumference (patient-centered cognitive behavioral therapy) intervention group. A pretest and posttest, controlled, experimental design was used. Outcomes were measured at the baseline (week 0) and at the end of intervention (week 12). Comparisons were drawn between groups and over time. The mean (standard deviation) age of the subjects was 48.6 (5.8) years ranging from 32 to 63, and 56.9% of the participants were female. Both groups showed no significant differences in Demographic variables and the metabolic syndrome indicators at baseline. While the control group only showed modest improvement after 12 weeks, compared to baseline, the intervention group demonstrated significant improvement from baseline. This study controlled for patients' demographics and baseline characteristics when assessing the effects of intervention. After adjusting for age, education and baseline level, the experimental group and the control group were statistically significant different in the following post-treatment outcomes: WC (F = 35.96, P < 0.001), TG (F = 18.93, P < 0.001), RSBP (F = 33.89, P < 0.001) and SF-36(F = 157.93, P < 0.001). The results showed patients' age and education were not strong predictors of patients' outcome (including WC, TG, RSBP and SF-36). Lifestyle intervention on patient-centered cognitive behavioral therapy can improve the physical and mental health conditions among individuals reporting a history of cardio-metabolic syndrome, and possibly provided preliminary benefits for the treatment of CMS. Chinese Clinical Trial Register #, ChiCTR15006148 .

[Flying needling therapy combined with clomiphene for ovulation failure in polycystic ovary syndrome:a randomized controlled trial].

PubMed

Ma, Hong; Quan, Xiaohong; Chen, Xiuhua; Dong, Ying

2016-11-12

To compare the efficacy among the combined treatment of flying needling therapy and clomiphene, the simple application of flying needling therapy and simple clomiphene in the treatment of ovulation failure in polycystic ovary syndrome (PCOS). Ninety patients of PCOS were randomized into a flying needling therapy group, a medication group and a combined treatment group, 30 cases in each one. In the flying needling therapy group, the flying needling therapy was simply applied to Ganshu (BL 18), Shenshu (BL 23), Zhongwan (CV 12), Shuifen (CV 9), Guanyuan (CV 4) and Zhongji (CV 3). The unilateral back- shu points were used alternatively in each treatment. The needles were inserted rapidly with rotation technique and even-needling manipulation. The needles were retained for 30 min. The treatment was given once every two days, 3 times a week. In the medication group, clomiphene was taken orally on the 5th day of menstruation, continuously for 5 days. In the combined treatment group, the flying needling therapy and clomiphene were used in combination. All of the patients were treated for 3 months and followed up for 1 month. The ovulation rates were compared among the three groups. The levels of androgen testosterone were compared before and after treatment. In the combined treatment group, the ovulation rate was 86.2% (100/116), better than 66.7% (80/120) in the flying needling therapy group and 69.6% (78/112) in the medication group (both P <0.05). The efficacy was similar between the fly needling therapy group and the medication group ( P >0.05). After treatment, the level of testosterone was reduced in the three groups (all P <0.05). In the combined treatment group, the improvement in androgen level was better than those in the flying needling therapy group and the medication group (both P <0.05). The efficacy was similar between the flying needling therapy group and the medication group ( P >0.05). The adverse reactions in the combined treatment group and the flying

Metformin and pioglitazone combination therapy ameliorate polycystic ovary syndrome through AMPK/PI3K/JNK pathway

PubMed Central

Wu, Yuanyuan; Li, Pengfen; Zhang, Dan; Sun, Yingpu

2018-01-01

Polycystic ovary syndrome (PCOS) is a common gynecological endocrine disorder, which results in health problems such as menstrual disorders, hyperandrogenism and persistent anovulation. Hyperandrogenism and insulin resistance are the basic characteristics of PCOS. To investigate the combined effect of metformin and pioglitazone on POCS and the potential mechanisms, a rat model of PCOS was established by intramuscular injection of estradiol valerate (EV). The effect of metformin and pioglitazone monotherapy or combination therapy in control rats and PCOS rats was evaluated, involving the testosterone level, follicular development and insulin resistance. The potential mechanism for the therapeutic effect of metformin and pioglitazone on POCS was explored through using three inhibitors of the 5′adenosine monophosphate-activated protein kinase (AMPK)/phosphoinositide-3 kinase (PI3K)/c-Jun N-terminal kinase (JNK) pathway (Compound C, Wortmannin and SP600125). The results showed that EV-induced PCOS rats demonstrated hyperandrogenemia, hyperinsulinemia and follicular dysplasia. Metformin or pioglitazone monotherapy significantly suppressed the high level of testosterone, reduced the raised percentage of cystic follicles and primary follicles, promoted the number of early antral follicles, and markedly decreased the high concentration of fasting insulin and homeostatic model assessment for insulin resistance index in PCOS rats. In addition, metformin and pioglitazone combination therapy demonstrated greater efficacy than its individual components. Furthermore, individual or joint treatment with metformin and pioglitazone affected the phosphorylation level of JNK in PCOS rats. Compound C and Wortmannin eliminated the effect of metformin and pioglitazone combination therapy on improving the follicular growth in PCOS rats, whereas SP600125 treatment enhanced this combination therapy effect. These data suggested that metformin and pioglitazone combination therapy

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

PubMed

Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

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…

Evolving concepts of diagnosis, pathogenesis, and therapy of Sjögren's syndrome.

PubMed

Fox, R I; Törnwall, J; Maruyama, T; Stern, M

1998-09-01

Differences in diagnostic criteria for Sjögren's Syndrome (SS) have led to confusion in the research literature and in clinical practice. A particular challenge is the clinical diagnosis of the patients with sicca symptoms, fibromyalgia, chronic fatigue, vague cognitive defects, and a low titer antinuclear antibody. Until recently, many of these patients would have been classified as primary SS using the European criteria. A suggested revision of the European criteria will require inclusion of anti SS-A antibody or characteristic minor salivary gland biopsy, leading to greater agreement between European and San Diego criteria. Recent studies have emphasized that lacrimal and salivary gland flow involves an entire "functional" unit that includes the mucosal surface (the site of inflammation), efferent nerve signals sent to the midbrain (lacrimatory and salvatory nucleus), efferent neural signals from the brain, and acinal/ductal structures in the gland. Thus, symptoms of dryness or pain can result from interferences with any part of this functional unit. The initiating antigens in SS remain unknown, but immune reactivity against SS-A, SS-B, fodrin, alpha- amylase, and carbonic anhydrase have been demonstrated in patients with established disease. The inflammatory process in the gland releases metalloproteinases that alter the relationship of epithelial cells to their matrix, an interaction that is necessary for glandular function and survival. Therapies for SS remain inadequate. In SS patients with immune-mediated extraglandular manifestation (ie, lung, kidney, skin, nerve), the therapeutic approach is similar to systemic lupus erythematosus, although these therapies have relatively little effect on tear or saliva flow.

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

PubMed Central

Wang, Hansen; Pati, Sandipan; Pozzo-Miller, Lucas; Doering, Laurie C.

2015-01-01

Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies focused on correcting underlying neural dysfunction. These preclinical discoveries are increasingly translating into exciting human clinical trials. Since there are significant molecular and neurobiological overlaps among ASDs, targeted treatments developed for fragile X and Rett syndromes may be helpful for autism of different etiologies. Here, we review the targeted pharmacological treatment of fragile X and Rett syndromes and discuss related issues in both preclinical studies and clinical trials of potential therapies for the diseases. PMID:25767435

Affinity for music in Wolf-Hirschhorn syndrome: two case reports.

PubMed

Arakawa, Chikako; Fujita, Yukihiko; Fuchigami, Tatsuo; Kawamura, Yuki; Ishii, Wakako; Endo, Ayumi; Kohira, Ryutaro; Takahashi, Shori

2014-10-01

Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, growth retardation, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication. An affinity for music has not previously been reported in these patients. We describe two patients with Wolf-Hirschhorn syndrome who both have a strong affinity for music. One patient is a 20-year-old woman who likes to listen to music all day and can hum many tunes. The other patient is a 9-year-old girl who is calmed by music and received music therapy, with subsequent improvement in her communication skills (eye contact, joint attention, and vocalizations to request music). Individuals with Wolf-Hirschhorn syndrome may have a strong affinity for music and may benefit from music therapy. Additional studies are needed to investigate the interest in music in individuals with Wolf-Hirschhorn syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

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

PubMed Central

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

2016-01-01

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

Gene modification therapies: views of parents of people with Down syndrome.

PubMed

Michie, Marsha; Allyse, Megan

2018-06-21

In considering gene modification technologies, the priorities of patient communities must be a central consideration. The purpose of this study is to assess views of families with Down syndrome (DS) regarding potential genome-based interventions. We constructed an anonymous online survey for family members of people with DS. Participants were asked to agree or disagree with scenarios describing hypothetical interventions to silence or significantly alter the physical and cognitive effects of a trisomy 21, and also with scenarios depicting currently available physical interventions. All 532 respondents were parents of people with DS. For each of the five scenarios, over half said they would approve the intervention or would advise their children with DS to do so. Responses to hypothetical prenatal and pediatric cognitive interventions were significantly affected by participants' assessments of the impact of DS on their children's and their families' lives, while physical and adult cognitive scenarios were not. Future interventions to address genetic conditions will impact patient communities and cannot succeed without their input and support. While many parents of people with DS indicated approval for hypothetical genetic therapies, these results indicate a need for continuing dialogue about benefits and drawbacks of gene modification technologies.

Patient with Gorlin syndrome and metastatic basal cell carcinoma refractory to smoothened inhibitors.

PubMed

Zhu, Gefei A; Li, Angela S; Chang, Anne Lynn S

2014-08-01

Basal cell carcinomas (BCCs) in patients with Gorlin syndrome have been reported to be extremely sensitive to Smoothened (SMO) inhibitors, a novel targeted therapy against the Hedgehog pathway, because of characteristic mutations in these patients. A few cases of disease refractory to oral therapy with SMO inhibitors have been reported in patients with Gorlin syndrome and nonmetastatic BCCs, but refractory disease in distantly metastatic tumors has not been documented in this high-risk group. A man with Gorlin syndrome and innumerable cutaneous BCCs presented with biopsy-proven BCC in his lungs. After SMO inhibitor therapy, almost all of his cutaneous tumors shrank, but his lung metastases did not. These lung metastases remained refractory to treatment despite institution of a second SMO inhibitor. We report a case of Gorlin syndrome in a patient with metastatic BCC refractory to SMO inhibitors. Furthermore, clinical responses in this patient's cutaneous tumors did not parallel the responses in the distant site. However, serial imaging after diagnosis of metastatic disease can be critical to monitor for response to therapy.

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

PubMed Central

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

2014-01-01

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

Disulfiram-induced acute organic brain syndrome.

PubMed

Kump, J G; Flaten, P A; Greenlaw, C W

1979-08-01

Reversible acute organic brain syndrome is described in a patient receiving disulfiram, 250 mg daily. Slowing of the electroencephalogram (3 to 4 cycles per second) in the occipital region resolved ten days after discontinuation of disulfiram. Acute organic brain syndrome induced by disulfiram is not rare but is often not correlated, and it should always be considered a possibility in patients receiving disulfiram therapy.

Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.

PubMed

Lau, Adeline A; Hemsley, Kim M

2017-10-01

The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).

Management issues in the metabolic syndrome.

PubMed

Deedwania, P C; Gupta, R

2006-10-01

The metabolic syndrome or cardiovascular dysmetabolic syndrome is characterized by obesity, central obesity, insulin resistance, atherogenic dyslipidemia, and hypertension. The major risk factors leading to this syndrome are physical inactivity and an atherogenic diet and cornerstone clinical feature is abdominal obesity or adiposity. In addition, patients usually have elevated triglycerides, low HDL cholesterol, elevated LDL cholesterol, other abnormal lipid parameters, hypertension, and elevated fasting blood glucose. Impaired fibrinolysis, increased susceptibility to thrombotic events, and raised inflammatory markers are also observed. Given that India has the largest number of subjects with type-2 diabetes in the world it can be extrapolated that this country also has the largest number of patients with the metabolic syndrome. Epidemiological studies confirm a high prevalence. Therapeutic approach involves intervention at a macro-level and control of multiple risk factors using therapeutic lifestyle approaches (diet control and increased physical activity, pharmacotherapy - anti-obesity agents) for control of obesity and visceral obesity, and targeted approach for control of individual risk factors. Pharmacological therapy is a critical step in the management of patients with metabolic syndrome when lifestyle modifications fail to achieve the therapeutic goals. Anti-obesity drugs such as sibutramine and orlistat can be tried to reduce weight and central obesity and jointly control the metabolic syndrome components. Other than weight loss, there is no single best therapy and treatment should consist of treatment of individual components of the metabolic syndrome. Newer drugs such as the endocannabinoid receptor blocker,rimonabant, appear promising in this regard. Atherogenic dyslipidemia should be controlled initially with statins if there is an increase in LDL cholesterol. If there are other lipid abnormalities then combination therapy of statin with fibrates

(131)I-MIBG radionuclide therapy is safe and cost-effective in the control of symptoms of the carcinoid syndrome.

PubMed

Pathirana, A A; Vinjamuri, S; Byrne, C; Ghaneh, P; Vora, J; Poston, G J

2001-06-01

The standard treatment used to control the symptoms of carcinoid syndrome (CS) involves subcutaneous injections of the somatostatin analogue octreotide. This is expensive (US $8000--16,000 per year), and treatment may be for many years. The aim of this study was to evaluate the efficacy and cost-effectiveness of our experience over the last 5 years with 1-131-labelled metaiodobenzylguanidine (MIBG) radionuclide therapy in the palliation of patients with CS. A consecutive series of 20 symptomatic patients (referred between 1994 and 1999) with CS were evaluated. Fifteen of them underwent(123)I-MIBG scanning. Of the 13 patients with significant tracer uptake in metastatic deposits compared to background, 12 underwent a course of therapeutic(131)I-MIBG (one patient refused). Symptoms, biochemical markers, CT scans, follow-up(123)I-MIBG scans, and the requirement for octreotide were used to assess outcome of treatment. Costs of(131)I-MIBG and octreotide treatments were compared. MIBG treatment was well tolerated in all with only transient side-effects. Ten patients showed a measurable clinical improvement. Seven had a complete clinical response. The mean duration of response was 15.4 months. Octreotide was not required or was reduced in eight patients. Treatment with(131)I-MIBG resulted in a saving of US $1000 per patient, with effective symptom control, when compared to octreotide. 1-131 MIBG therapy is a safe and cost-effective therapeutic option to successfully control symptoms in patients with carcinoid syndrome. Copyright Harcourt Publishers Limited.

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

PubMed Central

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

2015-01-01

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

[Nonspecific symptoms of pain syndromes of cervicobrachial localization and their dynamics under the influence of non - pharmacological treatment].

PubMed

Ярошевський, Олександр Анатолійович

2016-01-01

The relevance of this study is caused by the wide spread of musculoskeletal pain, particularly among young people of working age and lack of effectiveness of drug treatment. To study the capability of non-pharmacological treatment in patients with myofascial pain syndrome of cervicobrachial localization considering the influence to nonspecific symptoms of myofascial pain syndrome (autonomic dysfunctions and emotional disorders). We studied 115 patients aged from 18 to 44 years with myofascial pain syndrome of cervicobrachial localization. We used neurological, vertebral- neurological, neuropsychological examination. The severity of pain was assessed by the Visual analog scale for pain (VAS pain). Patients were divided into two groups. The first group of patients (59 individuals) received the complex of manual therapy. The second group of patients (56 individuals) received the complex of manual therapy combined with acupuncture. Non-pharmacological treatment was effective in patients with myofascial pain syndrome of cervicobrachial localization. Application of manual therapy methods in the treatment of myofascial pain syndrome of cervicobrachial localization leading to the reduction of severity of pain, emotional disorders and autonomic dysfunctions. The combination of manual therapy with acupuncture increases the effectiveness of treatment of myofascial pain syndrome of cervicobrachial localization by reducing the emotional disorders and autonomic dysfunctions. Patients with myofascial pain syndrome of cervicobrachial localization need the complex of manual therapy combined with acupuncture. The manual therapy corrects abnormal biomechanical pattern while acupuncture corrects autonomic dysfunctions and emotional disorders.

Burning Mouth Syndrome.

PubMed

Klasser, Gary D; Grushka, Miriam; Su, Nan

2016-08-01

Burning mouth syndrome (BMS) is an enigmatic, misunderstood, and under-recognized painful condition. Symptoms associated with BMS can be varied, thereby providing a challenge for practitioners and having a negative impact on oral health-related quality of life for patients. Management also remains a challenge for practitioners because it is currently only targeted for symptom relief without a definitive cure. There is an urgent need for further investigations to determine the efficacy of different therapies because this is the only way viable therapeutic options can be established for patients with this chronic and painful syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Outcome of orthodontic palatal plate therapy for orofacial dysfunction in children with Down syndrome: A systematic review.

PubMed

Javed, F; Akram, Z; Barillas, A P; Kellesarian, S V; Ahmed, H B; Khan, J; Almas, K

2018-02-01

To evaluate the effects of orthodontic palatal plate therapy (OPPT) in the treatment of orofacial dysfunction in children with Down syndrome (DS). Indexed databases were searched. Clinical trials in DS allocated to test (treatment with palatal plates) versus control group (without palatal plates/special physiotherapy for orofacial stimulation) with follow-up of any time duration and assessing mouth closure, tongue position, active and inactive muscle function as outcomes. Study designs, subject demographics, frequency and duration of palatal plate therapy, method for assessment, follow-up period and outcomes were reported according to the PRISMA guidelines. Eight clinical studies were included. The risk of bias was considered high in three studies and moderate in 5 studies. The number of children with DS ranged between 9 and 42. The mean age of children with DS at the start of the study ranged between 2 months and 12 years. The duration of palatal plate therapy ranged between 4 months and 48 months. The follow-up period in all studies ranged from 12 to 58 months. All studies reported OPPT to be effective in improving orofacial disorders in children with DS. Most of the included studies suggest that palatal plate therapy in combination with physiotherapy/orofacial regulation therapy according to Castillo Morales/speech and language intervention seems to be effective in improving orofacial disorders in children with DS. However, the risk of bias of the included studies was high to moderate. Longitudinal trials with standardized evaluation methods, age of children at treatment initiation, treatment duration and standard orofacial outcomes are recommended. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Treatment of Medial Tibial Stress Syndrome With Radial Soundwave Therapy in Elite Athletes: Current Evidence, Report on Two Cases, and Proposed Treatment Regimen.

PubMed

Saxena, Amol; Fullem, Brian; Gerdesmeyer, Ludger

Two case reports of high-level athletes with medial tibial stress syndrome (MTSS), 1 an Olympian with an actual stress fracture, are presented. Successful treatment included radial soundwave therapy, pneumatic leg braces, relative rest using an antigravity treadmill, and temporary foot orthoses. Radial soundwave therapy has a high level of evidence for treatment of MTSS. We also present recent evidence of the value of vitamin D assessment. Both patients had a successful outcome with minimal downtime. Finally, a suggested treatment regimen for MTSS is presented. Copyright © 2017 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

PubMed

Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek

2015-01-01

The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X[43]/46,X,i(X)(q10)[7]. At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.

Human Gene Therapy: Genes without Frontiers?

ERIC Educational Resources Information Center

Simon, Eric J.

2002-01-01

Describes the latest advancements and setbacks in human gene therapy to provide reference material for biology teachers to use in their science classes. Focuses on basic concepts such as recombinant DNA technology, and provides examples of human gene therapy such as severe combined immunodeficiency syndrome, familial hypercholesterolemia, and…

Optimal In-Hospital and Discharge Medical Therapy in Acute Coronary Syndromes in Kerala: Results from the Kerala ACS Registry

PubMed Central

Huffman, Mark D; Prabhakaran, Dorairaj; Abraham, AK; Krishnan, Mangalath Narayanan; Nambiar, C. Asokan; Mohanan, Padinhare Purayil

2013-01-01

Background In-hospital and post-discharge treatment rates for acute coronary syndrome (ACS) remain low in India. However, little is known about the prevalence and predictors of the package of optimal ACS medical care in India. Our objective was to define the prevalence, predictors, and impact of optimal in-hospital and discharge medical therapy in the Kerala ACS Registry of 25,718 admissions. Methods and Results We defined optimal in-hospital ACS medical therapy as receiving the following five medications: aspirin, clopidogrel, heparin, beta-blocker, and statin. We defined optimal discharge ACS medical therapy as receiving all of the above therapies except heparin. Comparisons by optimal vs. non-optimal ACS care were made via Student’s t test for continuous variables and chi-square test for categorical variables. We created random effects logistic regression models to evaluate the association between GRACE risk score variables and optimal in-hospital or discharge medical therapy. Optimal in-hospital and discharge medical care was delivered in 40% and 46% of admissions, respectively. Wide variability in both in-hospital and discharge medical care was present with few hospitals reaching consistently high (>90%) levels. Patients receiving optimal in-hospital medical therapy had an adjusted OR (95%CI)=0.93 (0.71, 1.22) for in-hospital death and an adjusted OR (95%CI)=0.79 (0.63, 0.99) for MACE. Patients who received optimal in-hospital medical care were far more likely to receive optimal discharge care (adjusted OR [95%CI]=10.48 [9.37, 11.72]). Conclusions Strategies to improve in-hospital and discharge medical therapy are needed to improve local process-of-care measures and improve ACS outcomes in Kerala. PMID:23800985

[Defibrotide therapy for patients with sinusoidal obstruction syndrome after hematopoietic stem cell transplantation].

PubMed

Yakushijin, Kimikazu; Okamura, Atsuo; Ono, Kanako; Kawano, Yuko; Kawano, Hiroki; Funakoshi, Yohei; Kawamori, Yuriko; Nishikawa, Shinichiro; Minagawa, Kentaro; Sada, Akiko; Shimoyama, Manabu; Yamamoto, Katsuya; Katayama, Yoshio; Matsui, Toshimitsu

2009-01-01

Sinusoidal obstruction syndrome (SOS) is one of the life-threatening complications caused by endothelial damage to the hepatic sinusoids after hematopoietic stem cell transplantation. However, a satisfactory treatment for SOS has not yet been established. Defibrotide has anti-thrombotic, anti-ischemic, anti-inflammatory, and thrombolytic properties without systemic anticoagulant effects. We treated eight post-transplant SOS patients with defibrotide. Three patients responded to the therapy and the initial response was observed within a week. In addition to the improvement of liver function, rapid recovery of response to diuretic drugs followed by the improvement of renal function was observed. All of the five patients with respiratory dysfunction died despite administration of defibrotide, suggesting that early treatment might lead to better outcomes. There were no severe adverse effects directly due to defibrotide administration. Defibrotide seems to be a promising treatment for SOS, and the initiation of a clinical study in Japan would be important.

Transient serotonin syndrome by concurrent use of electroconvulsive therapy and selective serotonin reuptake inhibitor: a case report and review of the literature.

PubMed

Okamoto, Nagahisa; Sakamoto, Kota; Yamada, Maki

2012-01-01

The serotonin syndrome, which is characterized by psychiatric, autonomic nervous and neurological symptoms, is considered to be caused by excessive stimulation of the 5-HT1A and 5-HT2 receptors in the gray matter and spinal cord of the central nervous system, after the start of dosing or increase of the dose of a serotoninergic drug. There have been hardly any reports of induction of serotonin syndrome by electroconvulsive therapy (ECT) in combination with antidepressant. We present the case of a female patient with major depressive disorder (MDD) who developed transient serotonin syndrome soon after the first session of ECT in combination with paroxetine. Paroxetine was discontinued, and her psychiatric, autonomic nervous and neurological symptoms were gradually relieved and disappeared within 2 days. We performed the second ECT session 5 days after the initial session and performed 12 sessions of ECT without any changes in the procedure of ECT and anesthesia, but no symptoms of SS were observed. Finally, her MDD remitted. ECT might cause transiently increased blood-brain barrier (BBB) permeability and enhance the transmissivity of the antidepressant in BBB. Therefore, it is necessary to pay attention to rare side effect of serotonin syndrome by ECT in combination with antidepressant.

Growth hormone positive effects on craniofacial complex in Turner syndrome.

PubMed

Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

2016-11-01

Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

Nutrition: A Primary Therapy in Pediatric Acute Respiratory Distress Syndrome

PubMed Central

Wilson, Bryan; Typpo, Katri

2016-01-01

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

Predictors of physical therapy clinic performance in the treatment of patients with low back pain syndromes.

PubMed

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

2008-09-01

Little is known about organizational and service delivery factors related to quality of care in physical therapy. This study sought to identify characteristics related to differences in practice outcomes and service utilization. The sample comprised 114 outpatient clinics and 1,058 therapists who treated 16,281 patients with low back pain syndromes during the period 2000-2001. Clinics participated with the Focus on Therapeutic Outcomes, Inc (FOTO) database. Hierarchical linear models were used to risk adjust treatment outcomes and number of visits per treatment episode. Aggregated residual scores from these models were used to classify each clinic into 1 of 3 categories in each of 3 types of performance groups: (1) effectiveness, (2) utilization, and (3) overall performance (ie, composite measure of effectiveness and utilization). Relationships between clinic classification and the following independent variables were examined by multinomial logistic regression: years of therapist experience, number of physical therapists, ratio of physical therapists to physical therapist assistants, proportion of patients with low back pain syndromes, number of new patients per physical therapist per month, utilization of physical therapist assistants, and setting. Clinics that were lower utilizers of physical therapist assistants were 6.6 times more likely to be classified into the high effectiveness group compared with the low effectiveness group, 6.7 times more likely to be classified in the low utilization group compared with the high utilization group, and 12.4 times more likely to be classified in the best performance group compared with the worst performance group. Serving a higher proportion of patients with low back pain syndromes was associated with an increased likelihood of being classified in the lowest or middle group. Years of physical therapist experience was inversely associated with being classified in the middle utilization group compared with the highest

Treatment of metabolic syndrome.

PubMed

Wagh, Arati; Stone, Neil J

2004-03-01

The metabolic syndrome is intended to identify patients who have increased risk of diabetes and/or a cardiac event due to the deleterious effects of weight gain, sedentary lifestyle, and/or an atherogenic diet. The National Cholesterol Education Program's Adult Treatment Panel III definition uses easily measured clinical findings of increased abdominal circumference, elevated triglycerides, low high-density lipoprotein-cholesterol, elevated fasting blood glucose and/or elevated blood pressure. Three of these five are required for diagnosis. The authors also note that other definitions of metabolic syndrome focus more on insulin resistance and its key role in this syndrome. This review focuses on how treatment might affect each of the five components. Abdominal obesity can be treated with a variety of lower calorie diets along with regular exercise. Indeed, all of the five components of the metabolic syndrome are improved by even modest amounts of weight loss achieved with diet and exercise. For those with impaired fasting glucose tolerance, there is good evidence that a high fiber, low saturated fat diet with increased daily exercise can reduce the incidence of diabetes by almost 60%. Of note, subjects who exercise the most, gain the most benefit. Metformin has also been shown to be helpful in these subjects. Thiazolidinedione drugs may prove useful, but further studies are needed. Although intensified therapeutic lifestyle change will help the abnormal lipid profile, some patients may require drug therapy. This review also discusses the use of statins, fibrates, and niacin. Likewise, while hypertension in the metabolic syndrome benefits from therapeutic lifestyle change, physicians should also consider angiotensin converting enzyme inhibitor drugs or angiotensin receptor blockers, due to their effects on preventing complications of diabetes, such as progression of diabetic nephropathy and due to their effects on regression of left ventricular hypertrophy. Aspirin

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.

PubMed

Wirrell, Elaine C; Laux, Linda; Donner, Elizabeth; Jette, Nathalie; Knupp, Kelly; Meskis, Mary Anne; Miller, Ian; Sullivan, Joseph; Welborn, Michelle; Berg, Anne T

2017-03-01

To establish standards for early, cost-effective, and accurate diagnosis; optimal therapies for seizures; and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process. An expert panel was convened comprising epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations. Panelists were asked to base their responses to questions both on their clinical expertise and results of a literature review that was forwarded to each panelist. Three rounds of online questionnaires were conducted to identify areas of consensus and strength of that consensus, as well as areas of contention. The panel consisted of 13 physicians and five family members. Strong consensus was reached regarding typical clinical presentation of Dravet syndrome, range of electroencephalography and magnetic resonance imaging findings, need for genetic testing, critical information that should be conveyed to families at diagnosis, priorities for seizure control and typical degree of control, seizure triggers and recommendations for avoidance, first- and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for comorbidity screening, and need for family support. Consensus was not as strong regarding later therapies, including vagus nerve stimulation and callosotomy, and for specific therapies of associated comorbidities. Beyond the initial treatment with benzodiazepines and use of valproate, there was no consensus on the optimal in-hospital management of convulsive status epilepticus. We were able to identify areas where there was strong consensus that we hope will (1) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (2) support reimbursement from insurance companies

Cushing's syndrome in type 2 diabetes patients with poor glycemic control.

PubMed

Gungunes, Askin; Sahin, Mustafa; Demirci, Taner; Ucan, Bekir; Cakir, Evrim; Arslan, Muyesser Sayki; Unsal, Ilknur Ozturk; Karbek, Basak; Calıskan, Mustafa; Ozbek, Mustafa; Cakal, Erman; Delibasi, Tuncay

2014-12-01

Cushing's syndrome may be more frequent in some specific patient groups such as type 2 diabetes and obesity. The aim of this study was to investigate the prevalence of Cushing's syndrome in outpatients with type 2 diabetes with poor glycemic control despite at least 3-months insulin therapy. Outpatients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite receiving at least 3-months long insulin treatment (insulin alone or insulin with oral antidiabetics) were included. Patients with classic features of Cushing's syndrome were excluded. Overnight 1 mg dexamethasone suppression test (DST) was performed as a screening test. A total of 277 patients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite insulin therapy were included. Two of the 277 patients with type 2 diabetes were diagnosed with Cushing's syndrome (0.72 %). Hypertension was statistically more frequent in the patients with cortisol levels ≥1.8 μg/dL than the patients with cortisol levels <1.8 μg/dL after overnight 1 mg DST (p = 0.041). Statistically significant correlation was determined between cortisol levels after 1 mg DST and age, daily insulin dose (r = 0.266 and p < 0.001, r = 0.163 and p = 0.008, respectively). According to our findings, the prevalence of Cushing's syndrome among patients with type 2 diabetes with poor glycemic control despite insulin therapy is much higher than in the general population. The patients with type 2 diabetes with poor glycemic control despite at least three months of insulin therapy should be additionally tested for Cushing's syndrome if they have high dose insülin requirements.

Cytomegalovirus Retinitis in Patients With Acquired Immunodeficiency Syndrome After Initiating Antiretroviral Therapy.

PubMed

Jabs, Douglas A; Van Natta, Mark L; Holland, Gary N; Danis, Ronald

2017-02-01

To evaluate the rates of new-onset cytomegalovirus (CMV) retinitis and worsening existing CMV retinitis in patients with AIDS after initiating combination antiretroviral therapy (cART) and the role of an immune recovery inflammatory syndrome (IRIS). Cohort study. Immune recovery was defined as an increase in CD4 + T cells to ≥100 cells/μL; rates of new-onset CMV retinitis and of worsening of CMV retinitis (either increasing border activity or retinitis progression) were compared between those with and without immune recovery. Among patients without CMV retinitis, 1 of 75 patients with immune recovery developed CMV retinitis in the first 6 months after initiating cART vs 1 of 31 without immune recovery (P = .14). Among patients with CMV retinitis, the rates of retinitis progression and increasing retinitis border activity among patients during the first 6 months after initiating cART in those with immune recovery were 0.11 per person-year (PY; 95% confidence interval [CI] 0-0.62) and 0.11 per PY (95% CI 0-0.62), respectively, vs 0.67 per PY (95% CI 0.22-1.56) and 0.40 per PY (95% CI 0.08-1.17), respectively, for those without immune recovery (P = .11 and .47). Among persons with AIDS who experience immune recovery, there was neither an increased rate of new-onset CMV retinitis nor worsening of existing CMV retinitis in the first 6 months after initiating cART vs those without immune recovery. These data are consistent with the known 3- to 6-month lag in recovery of specific immunity to CMV after initiating cART and suggest that "immune recovery retinitis," a proposed immune recovery inflammatory syndrome phenomenon, is rare. Copyright © 2016 Elsevier Inc. All rights reserved.

Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.

PubMed

Akbari, Maryam; Chen, Harold; Guo, Grace; Legan, Zachary; Ghali, Ghali

2018-01-31

In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research. Furthermore, the FDA approved Hedgehog pathway inhibitors Vismodegib and Sonidegib designed for advanced basal cell carcinoma have opened a new door for treatment that may ultimately decrease the number of surgeries for a patient with Gorlin syndrome. The role of these agents in syndromic odontogenic keratocyst has not been studied extensively, but one study found that hedgehog pathway inhibitors decrease the size of syndromic odontogenic keratocyst. Ideal surgical treatment that balances low recurrence rates with low impact on one's quality of life for syndromic odontogenic keratocyst is another unanswered question for oral and maxillofacial surgeons. Per survey studies, treatment options practiced for syndromic odontogenic keratocyst range from marsupialization to segmental osteotomy. Future studies performed should take a comprehensive long-term approach with at least three years of follow-up in order to determine the most appropriate treatment. Copyright © 2018 Elsevier B.V. All rights reserved.

Genetics Home Reference: Costello syndrome

MedlinePlus

... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... 44. Citation on PubMed Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients ...

Carpal Tunnel Syndrome: Effectiveness of Physical Therapy and Electrophysical Modalities. An Updated Systematic Review of Randomized Controlled Trials.

PubMed

Huisstede, Bionka M; Hoogvliet, Peter; Franke, Thierry P; Randsdorp, Manon S; Koes, Bart W

2017-09-20

To review scientific literature studying the effectiveness of physical therapy and electrophysical modalities for carpal tunnel syndrome (CTS). The Cochrane Library, PubMed, Embase, CINAHL, and Physiotherapy Evidence Database. Two reviewers independently applied the inclusion criteria to select potential eligible studies. Two reviewers independently extracted the data and assessed the methodologic quality using the Cochrane Risk of Bias Tool. A best-evidence synthesis was performed to summarize the results of the included studies (2 reviews and 22 randomized controlled trials [RCTs]). For physical therapy, moderate evidence was found for myofascial massage therapy versus ischemic compression on latent, or active, trigger points or low-level laser therapy in the short term. For several electrophysical modalities, moderate evidence was found in the short term (ultrasound vs placebo, ultrasound as single intervention vs other nonsurgical interventions, ultrasound vs corticosteroid injection plus a neutral wrist splint, local microwave hyperthermia vs placebo, iontophoresis vs phonophoresis, pulsed radiofrequency added to wrist splint, continuous vs pulsed vs placebo shortwave diathermy, and interferential current vs transcutaneous electrical nerve stimulation vs a night-only wrist splint). In the midterm, moderate evidence was found in favor of radial extracorporeal shockwave therapy (ESWT) added to a neutral wrist splint, in favor of ESWT versus ultrasound, or cryo-ultrasound, and in favor of ultrasound versus placebo. For all other interventions studied, only limited, conflicting, or no evidence was found. No RCTs investigating the long-term effects of physical therapy and electrophysical modalities were found. Because of heterogeneity in the treatment parameters used in the included RCTs, optimal treatment parameters could not be identified. Moderate evidence was found for several physical therapy and electrophysical modalities for CTS in the short term and midterm

A Case of Fisher-Bickerstaff Syndrome Overlapped by Guillain-Barré Syndrome

PubMed Central

Fujii, Daiki; Manabe, Yasuhiro; Takahasi, Yosiaki; Narai, Hisashi; Omori, Nobuhiko; Kusunoki, Susumu; Abe, Koji

2012-01-01

We report a 72-year-old woman with overlapping Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) and Bickerstaff's brainstem encephalitis (BBE). She developed diplopia and unsteady gait a week after an upper respiratory infection on day 1. She had weakness of both upper limbs on day 3 and became drowsy, and her respiratory status worsened on day 5. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, areflexia, and consciousness disturbance. We diagnosed her with MFS on day 1, GBS on day 3 and overlapping BBE on day 5. She underwent immunoadsorption therapy and two courses of intravenous immunoglobulin therapy. Ten months after onset, her symptoms had fully recovered. Anti-GM1 IgG, GD1a IgG, GQ1b IgG, and GT1a IgG antibodies were positive. Our case supports the notion that MFS, GBS, and BBE are all part of a continuous clinical spectrum, which is an antibody-mediated process. PMID:23275783

Shockwave therapy in the management of complex regional pain syndrome in medial femoral condyle of the knee.

PubMed

Notarnicola, Angela; Moretti, Lorenzo; Tafuri, Silvio; Panella, Antonio; Filipponi, Marco; Casalino, Alessio; Panella, Michele; Moretti, Biagio

2010-06-01

The aim of this prospective study was to assess the efficacy of shockwave (SW) therapy in the management of complex regional pain syndrome (CRPS). In this study, 30 patients (pts) who were affected by CRPS of the medial femoral condyle and unresponsive to previous standard physiotherapeutic and pharmacological treatment underwent 3 SW sessions at 72-h intervals, each consisting of 4000 shocks emitted by a MiniLith SL1 Storz electromagnetic generator. An energy flux density (EFD) of 0.035 or 0.09 mJ/mm(2) was used, depending on how well the patient endured the pain during the treatment. Satisfactory results were observed in 76.7% of the cases (23 pts) at the 2-month follow-up (FU) visit, and in 80% (24 pts) at the 6-month FU visit. The therapeutic effects of SW were caused by decreasing pain. The significant improvements we obtained bear witness to the potential value of SW therapy in the management of CRPS. Copyright 2010 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome.

PubMed

Enríquez, R; Sirvent, A E; Padilla, S; Noguera-Pons, R; Andrada, E; Ardoy, F; Millán, I; Amorós, F

2013-01-01

Cryopyrin-associated periodic syndrome (CAPS) is due to gain-of-function mutations in the cryopyrin gene, which determines an overactive inflammatory response. AA amyloidosis is a complication of this syndrome. A 53-year-old man was referred to us because of lower limb edema. Past history: at the age of 20, he complained of arthralgia/arthritis and bilateral hypoacusis. At the age of 35, he presented posterior uveitis, several episodes of conjunctivitis, and progressive loss of visual acuity. Laboratory tests disclosed nephrotic syndrome, and renal biopsy showed AA amyloidosis. He was given anakinra with improvement of arthritis. A genetic study revealed the p.D303N mutation in the cryopyrin gene, and he was diagnosed as having AA amyloidosis due to CAPS. Twenty-one months after starting anakinra, the arthritis has disappeared, although nephrotic-range proteinuria persisted. It is important to be aware of cryopyrin-associated periodic syndrome because it can cause irreversible complications, and there is effective therapy.