Sample records for cryopyrin-associated periodic syndromes

  1. Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome

    Microsoft Academic Search

    Helen J. Lachmann; Isabelle Kone-Paut; Jasmin B. Kuemmerle-Deschner; Kieron S. Leslie; Eric Hachulla; Pierre Quartier; Xavier Gitton; Albert Widmer; Neha Patel; Philip N. Hawkins

    2009-01-01

    Background The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with overproduction of interleukin-1. Canakinumab is a human anti-interleukin-1? monoclonal antibody. Methods We performed a three-part, 48-week, double-blind, placebo-controlled, randomized withdrawal study of canakinumab in patients with CAPS. In part 1, 35 patients re- ceived 150 mg of canakinumab subcutaneously. Those with a complete response to treatment

  2. Cryopyrin-associated periodic syndromes: background and therapeutics

    Microsoft Academic Search

    Tetsuo Kubota; Ryuji Koike

    2010-01-01

    Cryopyrin-associated periodic syndromes (CAPS) are caused by mutations of the gene encoding the NLR family protein NLRP3,\\u000a which together with caspase-1 and adaptor proteins constitutes a protein complex termed the inflammasome. In innate immune\\u000a reactions, a variety of stimuli activate the NLRP3 inflammasome, triggering caspase-1 to process proIL-1 and thus to produce\\u000a mature IL-1. Excessive production of IL-1 by monocytes\\/macrophages

  3. Cryopyrin-Associated Periodic Syndromes: Otolaryngologic and Audiologic Manifestations

    PubMed Central

    Ahmadi, Neda; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Butman, John A.; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H. Jeffrey

    2012-01-01

    Objective Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. Study Design Prospective (2003–2009). Setting National Institutes of Health. Subjects and Methods Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. Results Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. Conclusion CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists. PMID:21493283

  4. Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response

    Microsoft Academic Search

    Justin R. Yu; Kieron S. Leslie

    2011-01-01

    Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three\\u000a phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease.\\u000a Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from\\u000a a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the

  5. Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

    PubMed

    Sarrabay, Guillaume; Grandemange, Sylvie; Touitou, Isabelle

    2015-07-01

    Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases. PMID:25979514

  6. Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.

    PubMed

    Kanariou, Maria; Tantou, Sofia; Varela, Ioanna; Raptaki, Maria; Petropoulou, Chrissa; Nikas, Ioannis; Valari, Manthoula

    2014-11-01

    Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1?. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1? monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1? monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome. PMID:25349319

  7. Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome

    PubMed Central

    Kawai, Mariko; Yoshikawa, Tadanobu; Nishikomori, Ryuta; Heike, Toshio; Takahashi, Kanji

    2013-01-01

    Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-l?. A 35-year-old male presented with recurrent symptoms of urticarial-like rash, periodic fever, arthralgia, headache, and eye redness. His best-corrected visual acuity was 1.0 OD and 0.9 OS. Slit-lamp examination showed conjunctival and episcleral injection in both eyes. Ophthalmoscopy revealed obvious bilateral optic disc swelling and retinal vascular sheathing around the optic discs. Spectral domain optical coherence tomography also showed obvious optic disc swelling. Steroid and nonsteroidal anti-inflammatory drugs did not improve these symptoms. Genetic testing detected a heterozygous mutation of c.907G>A. Thus, the patient was genetically confirmed with CAPS. Visual acuity did not decrease for 3 years, although the optic discs became white in color. CAPS should therefore be distinguished from other disorders when examining optic disc swelling and/or uveitis patients with urticarial-like rash and periodic fever. PMID:23966762

  8. Unified Modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes

    PubMed Central

    Bozkurt, Yasemin; Demir, Alper; Erman, Burak; Gül, Ahmet

    2015-01-01

    Familial mediterranean fever (FMF) and Cryopyrin associated periodic syndromes (CAPS) are two prototypical hereditary autoinflammatory diseases, characterized by recurrent episodes of fever and inflammation as a result of mutations in MEFV and NLRP3 genes encoding Pyrin and Cryopyrin proteins, respectively. Pyrin and Cryopyrin play key roles in the multiprotein inflammasome complex assembly, which regulates activity of an enzyme, Caspase 1, and its target cytokine, IL-1?. Overproduction of IL-1? by Caspase 1 is the main cause of episodic fever and inflammatory findings in FMF and CAPS. We present a unifying dynamical model for FMF and CAPS in the form of coupled nonlinear ordinary differential equations. The model is composed of two subsystems, which capture the interactions and dynamics of the key molecular players and the insults on the immune system. One of the subsystems, which contains a coupled positive-negative feedback motif, captures the dynamics of inflammation formation and regulation. We perform a comprehensive bifurcation analysis of the model and show that it exhibits three modes, capturing the Healthy, FMF, and CAPS cases. The mutations in Pyrin and Cryopyrin are reflected in the values of three parameters in the model. We present extensive simulation results for the model that match clinical observations.

  9. Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians

    PubMed Central

    Haug, Iris

    2013-01-01

    The cryopyrin-associated periodic syndrome (CAPS) is a very rare disease. It is estimated that there are 1–2 cases for every 1 million people in the US and 1 in every 360,000 in France. However, many patients are diagnosed very late or not at all, meaning the real prevalence is likely to be higher. CAPS encompasses the three entities of familial cold auto-inflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. They have in common a causative mutation in the NLRP3 gene. The altered gene product cryopyrin leads to activation of the inflammasome which in turn is responsible for excessive production of interleukin (IL)-1?. IL-1? causes the inflammatory manifestations in CAPS. These appear as systemic inflammation including fever, headache or fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal manifestations and central nervous system (CNS) symptoms (NOMID/CINCA only). With the advent of IL-1 Inhibitors, safe and effective therapeutic options became available for this devastating disease. To prevent severe and possible life-threatening disease sequelae, early and correct diagnosis and immediate initiation of therapy are mandatory in most patients. Canakinumab is a fully human monoclonal IgG1 anti-IL-1? antibody. It provides selective and prolonged IL-1? blockade and has demonstrated a rapid (within hours), complete and sustained response in most CAPS patients without any consistent pattern of side effects. Long-term follow-up trials have demonstrated sustained efficacy, safety and tolerability. Canakinumab is approved by the US Food and Drug Administration for FCAS and MWS and by European Medicines Agency for treatment of all three phenotypes of CAPS. PMID:24294305

  10. Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians.

    PubMed

    Kuemmerle-Deschner, Jasmin B; Haug, Iris

    2013-12-01

    The cryopyrin-associated periodic syndrome (CAPS) is a very rare disease. It is estimated that there are 1-2 cases for every 1 million people in the US and 1 in every 360,000 in France. However, many patients are diagnosed very late or not at all, meaning the real prevalence is likely to be higher. CAPS encompasses the three entities of familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. They have in common a causative mutation in the NLRP3 gene. The altered gene product cryopyrin leads to activation of the inflammasome which in turn is responsible for excessive production of interleukin (IL)-1?. IL-1? causes the inflammatory manifestations in CAPS. These appear as systemic inflammation including fever, headache or fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal manifestations and central nervous system (CNS) symptoms (NOMID/CINCA only). With the advent of IL-1 Inhibitors, safe and effective therapeutic options became available for this devastating disease. To prevent severe and possible life-threatening disease sequelae, early and correct diagnosis and immediate initiation of therapy are mandatory in most patients. Canakinumab is a fully human monoclonal IgG1 anti-IL-1? antibody. It provides selective and prolonged IL-1? blockade and has demonstrated a rapid (within hours), complete and sustained response in most CAPS patients without any consistent pattern of side effects. Long-term follow-up trials have demonstrated sustained efficacy, safety and tolerability. Canakinumab is approved by the US Food and Drug Administration for FCAS and MWS and by European Medicines Agency for treatment of all three phenotypes of CAPS. PMID:24294305

  11. Sudden cardiac arrest secondary to cardiac amyloidosis in a young woman with cryopyrin-associated periodic syndrome.

    PubMed

    Endo, Keiko; Suzuki, Atsushi; Sato, Kayoko; Shiga, Tsuyoshi

    2015-01-01

    Cryopyrin-associated periodic syndrome (CAPS) is caused by NLRP3 mutations, which result in dysregulated interleukin 1? (IL-1?) production and inflammation. Some patients with CAPS develop systemic amyloidosis via an inflammatory reaction. We describe a case of a 39-year-old woman who experienced cardiopulmonary arrest secondary to ventricular fibrillation complicated by cardiac amyloidosis as well as by CAPS. She was diagnosed with renal amyloidosis at 32 years of age. At 34 years of age, genetic sequencing of the NLRP3 gene demonstrated that she was heterozygous for the p.E304 K mutation, and she was subsequently diagnosed with CAPS. After treatment with canakinumab (human anti-IL-1? monoclonal antibody) for CAPS, the inflammatory reaction was improved. However, she eventually developed cardiac arrest with ventricular fibrillation and was successfully resuscitated. Echocardiography demonstrated mildly reduced left ventricular systolic function (left ventricular ejection fraction of 48%). Coronary angiography revealed no stenosis, but a cardiac biopsy demonstrated cardiac amyloidosis. She received an implantable cardioverter defibrillator. PMID:25883259

  12. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1? mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

    Microsoft Academic Search

    Jasmin B Kuemmerle-Deschner; Eduardo Ramos; Norbert Blank; Joachim Roesler; Sandra D Felix; Thomas Jung; Kirstin Stricker; Abhijit Chakraborty; Stacey Tannenbaum; Andrew M Wright; Christiane Rordorf

    2011-01-01

    Introduction  Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory\\u000a syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease\\/chronic infantile neurological\\u000a cutaneous and articular syndrome (NOMID\\/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1? (IL-1?) release. CAPS is a rare hereditary auto-inflammatory disease, which may\\u000a start early in childhood and

  13. Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

    PubMed Central

    Balow, James E; Ryan, John G; Chae, Jae Jin; Booty, Matthew G; Bulua, Ariel; Stone, Deborah; Sun, Hong-Wei; Greene, James; Barham, Beverly; Goldbach-Mansky, Raphaela; Kastner, Daniel L; Aksentijevich, Ivona

    2014-01-01

    Objective To analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 CAPS patients before and after treatment with anakinra. Methods We collected peripheral blood mononuclear cells from 22 CAPS patients with active disease and from 14 healthy children. Transcripts that passed stringent filtering criteria (p values ? false discovery rate 1%) were considered as differentially expressed genes (DEG). A set of DEG was validated by quantitative reverse transcription PCR and functional studies with primary cells from CAPS patients and healthy controls. We used 17 CAPS and 66 non-CAPS patient samples to create a set of gene expression models that differentiates CAPS patients from controls and from patients with other autoinflammatory conditions. Results Many DEG include transcripts related to the regulation of innate and adaptive immune responses, oxidative stress, cell death, cell adhesion and motility. A set of gene expression-based models comprising the CAPS-specific gene expression signature correctly classified all 17 samples from an independent dataset. This classifier also correctly identified 15 of 16 postanakinra CAPS samples despite the fact that these CAPS patients were in clinical remission. Conclusions We identified a gene expression signature that clearly distinguished CAPS patients from controls. A number of DEG were in common with other systemic inflammatory diseases such as systemic onset juvenile idiopathic arthritis. The CAPS-specific gene expression classifiers also suggest incomplete suppression of inflammation at low doses of anakinra. PMID:23223423

  14. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes

    PubMed Central

    Austermann, Judith; Holzinger, Dirk; Goldbach-Mansky, Raphaela; Gramlich, Katharina; Lohse, Peter; Jung, Thomas; Roth, Johannes; Benseler, Susanne M; Foell, Dirk

    2014-01-01

    Objectives To assess the sensitivity of the phagocyte-specific molecules myeloid-related protein (MRP) 8 and MRP14 (calprotectin) for monitoring disease activity during anti-interleukin (IL)-1 therapies in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular (CINCA) syndrome. Methods A total of 39 patients with CAPS, including 5 FCAS, 16 MWS and 18 CINCA syndrome, received anti-IL-1 therapy. All patients with CINCA and 12 with MWS were treated with IL-1Ra (anakinra), 14 patients with MWS with a monoclonal anti-IL-1? antibody (canakinumab) and patients with FCAS received IL-1 Trap (rilonacept). During serial clinical visits serum amyloid A, C-reactive protein, erythrocyte sedimentation rate and MRP8/14 serum levels were analysed. Results Untreated patients with CAPS had significantly elevated MRP8/14 values. In response to treatment there was a significant reduction of MRP8/14 levels in CINCA (2,830 (range 690 – 8,480) ng/ml to 670 ng/ml, p < 0.001) and MWS patients (anakinra-treated: 4,390 (1790 – 9780) ng/ml to 1,315 ng/ml (p = 0.003); canakinumab-treated: 3,000 (500 – 13060) ng/ml to 630 ng/ml (p=0.001)). However, in many patients with CAPS, MRP8/14 levels were still elevated compared with healthy individuals, reflecting residual disease activity. However, canakinumab-treated patients with CAPS showed normalised MRP8/14 levels, suggesting control of phagocyte activation. Conclusions Monitoring of cellular systems involved in inflammatory cascades of the innate immunity was successfully applied to the IL-1-driven CAPS diseases. This is the first study illustrating different states of subclinical disease activity in all types of CAPS depending on the type of anti-IL-1 therapy. MRP8/14 is a sensitive biomarker for monitoring disease activity, status of inflammation and response to IL-1 blockade in patients with CAPS. PMID:21908452

  15. Pathogenesis of systemic inflammatory diseases in childhood: "Lessons from clinical trials of anti-cytokine monoclonal antibodies for Kawasaki disease, systemic onset juvenile idiopathic arthritis, and cryopyrin-associated periodic fever syndrome".

    PubMed

    Yokota, Shumpei; Kikuchi, Masako; Nozawa, Tomo; Kanetaka, Taichi; Sato, Tomomi; Yamazaki, Kazuko; Sakurai, Nodoka; Hara, Ryoki; Mori, Masaaki

    2015-01-01

    Inflammation has often been considered to be a nonspecific response and to play a bridging role in the activation of adaptive immunity. However, it is now accepted that inflammation is the product of an independent innate immune system closely linked to the adaptive immune system. The key mediators of inflammation are inflammatory cytokines, as determined by multiple lines of evidence both in vitro and in vivo. Due to the crucial role of inflammatory cytokines in the pathogenesis of autoimmune disorders, anti-cytokine treatment has been developed as a therapy for rheumatoid arthritis, juvenile idiopathic arthritis (JIA), and inflammatory bowel diseases. We recently completed several clinical trials of anti-cytokine treatment for children with systemic inflammatory diseases: anti-IL-6 receptor monoclonal antibody (tocilizumab) for children with two subtypes of JIA (poly-JIA and systemic JIA), anti-TNF-? monoclonal antibody (infliximab) for children with Kawasaki disease, and anti-IL-1-? monoclonal antibody (canakinumab) for children with cryopyrin-associated periodic syndrome. This review summarizes the basis of inflammation in terms of innate immunity and adaptive immunity in these systemic inflammatory diseases, clinical efficacy, and tolerability of these biologic agents, and attempts to determine the roles of individual inflammatory cytokines in disease pathogenesis. PMID:24842480

  16. 75 FR 76739 - Determination of Regulatory Review Period for Purposes of Patent Extension; ILARIS

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-09

    ...specified in 35 U.S.C. 156(g)(1)(B). FDA recently approved for marketing the human biologic product ILARIS (canakinumab). ILARIS is indicated for the treatment of Cryopyrin Associated Periodic Syndromes in adults and children 4 years of...

  17. Monogenic autoinflammatory syndromes at a dermatological level

    Microsoft Academic Search

    Donato Rigante; Luca Cantarini

    Autoinflammatory syndromes include an expanding list of diseases characterized by unprovoked recurrent attacks of systemic\\u000a inflammation with lack of autoantibodies or autoreactive T-cells. This group of conditions encompasses monogenic diseases\\u000a with Mendelian inheritance which are caused by specific mutations of different genes regulating the innate immunity: familial\\u000a Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated

  18. Muckle-Wells Syndrome Effectively Treated with Canakinumab: Is the Recommended Dosing Schedule Mandatory?

    Microsoft Academic Search

    Simon M. Mueller; Peter Itin; Peter Haeusermann

    2011-01-01

    Cryopyrin-associated periodic fever syndrome (CAPS) is a rare inherited disease due to mutations in the NLRP3 (also called CIAS1) gene on chromosome 1q44 resulting in overproduction of interleukin-1. CAPS comprises three clinically overlapping disorders including Muckle-Wells syndrome. We report on two half-siblings with Muckle-Wells syndrome who were successfully treated with the interleukin-1 beta antibody canakinumab. Despite reduced dosing and longer

  19. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes

    PubMed Central

    Ozkurede, V U; Franchi, L

    2012-01-01

    Autoinflammatory syndromes are disorders characterized by the hyperactivation of the innate immune system in the absence of microbial infection or autoantibody production. Some autoinflammatory syndromes are associated with recurrent episodes of fever and systemic inflammation that are caused by dysregulated activation of inflammasomes, molecular platforms responsible for the activation of caspase-1 and the production of interleukin (IL)-1?. In this review we will discuss the role of IL-1? and the inflammasomes in host defence and how mutations of two genes, NLRP3 and PYRIN, leads to the autoinflammatory syndromes, cryopyrin-associated periodic syndromes (CAPS) and familial Mediterranean fever (FMF). Both CAPS and FMF are characterized by increased inflammasome activity and overproduction of IL-1? which is ultimately responsible for disease manifestations. Importantly, understanding the molecular mechanisms of these syndromes has led to effective treatment for these rare diseases with biological drugs that target IL-1?-mediated signalling. PMID:22288581

  20. IL-1 blockade in autoinflammatory syndromes.

    PubMed

    Jesus, Adriana A; Goldbach-Mansky, Raphaela

    2014-01-01

    Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. Pathogenic variants in two interleukin-1 (IL-1)-regulating genes, NLRP3 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated periodic syndromes) and DIRA (deficiency of IL-1 receptor antagonist). The discovery of the mutations that cause CAPS and DIRA led to clinical and basic research that uncovered the key role of IL-1 in an extended spectrum of immune dysregulatory conditions. NLRP3 encodes cryopyrin, an intracellular "molecular sensor" that forms a multimolecular platform, the NLRP3 inflammasome, which links "danger recognition" to the activation of the proinflammatory cytokine IL-1?. The success and safety profile of drugs targeting IL -1 in the treatment of CAPS and DIRA have encouraged their wider use in other autoinflammatory syndromes including the classic hereditary periodic fever syndromes (familial Mediterranean fever, TNF receptor-associated periodic syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome) and additional immune dysregulatory conditions that are not genetically well defined, including Still's, Behcet's, and Schnitzler diseases. The fact that the accumulation of metabolic substrates such as monosodium urate, ceramide, cholesterol, and glucose can trigger the NLRP3 inflammasome connects metabolic stress to IL-1?-mediated inflammation and provides a rationale for therapeutically targeting IL-1 in prevalent diseases such as gout, diabetes mellitus, and coronary artery disease. PMID:24422572

  1. Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA)

    MedlinePLUS

    ... Resources > Diseases & Conditions Back to Diseases & Conditions Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA) (Juvenile) PRINT ... IS PFAPA? This syndrome includes recurrent episodes of fever with aphthous stomatitis (mouth sores) and pharyngitis (sore ...

  2. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

    PubMed Central

    Canna, Scott W.; de Jesus, Adriana Almeida; Gouni, Sushanth; Brooks, Stephen R.; Marrero, Bernadette; Liu, Yin; DiMattia, Michael A.; Zaal, Kristien J.M.; Montealegre Sanchez, Gina A.; Kim, Hanna; Chapelle, Dawn; Plass, Nicole; Huang, Yan; Villarino, Alejandro V.; Biancotto, Angelique; Fleisher, Thomas A.; Duncan, Joseph A.; O’Shea, John J; Benseler, Susanne; Grom, Alexei; Deng, Zuoming; Laxer, Ronald M; Goldbach-Mansky, Raphaela

    2014-01-01

    Inflammasomes are innate immune sensors that respond to pathogen and damage-associated signals with caspase-1 activation, IL-1? and IL-18 secretion, and macrophage pyroptosis. The discovery that dominant gain-of-function mutations in NLRP3 cause the Cryopyrin Associated Periodic Syndromes (CAPS) and trigger spontaneous inflammasome activation and IL-1? oversecretion, led to successful treatment with IL-1 blocking agents1. Herein, we report a de novo missense mutation, c.1009A>T, p.Thr337Ser, in the nucleotide-binding domain of inflammasome component NLRC4 (IPAF/CARD12) that causes early-onset recurrent fever flares and Macrophage Activation Syndrome (MAS). Functional analyses demonstrated spontaneous inflammasome formation and production of the inflammasome-dependent cytokines IL-1? and IL-18, the latter exceeding levels in CAPS. The NLRC4 mutation caused constitutive caspase-1 cleavage in transduced cells and increased production of IL-18 by both patient and NLRC4 mutant macrophages. Thus, we describe a novel monoallelic inflammasome defect that expands the monogenic autoinflammatory disease spectrum to include MAS and suggests novel targets for therapy. PMID:25217959

  3. Secondary Sjogren's syndrome presenting with hypokalemic periodic paralysis

    PubMed Central

    Dormohammadi Toosi, Taraneh; Naderi, Neda; Movassaghi, Shafieh; Seradj, Mehran Heydari; Khalvat, Ali; Shahbazi, Fatemeh

    2014-01-01

    Renal tubular acidosis (RTA) may develop in a large population of patients with Sjogren's syndrome (SS), but most of the subjects are asymptomatic. Here, we report a patient with known rheumatoid arthritis and symptoms of xerostomia, xerophthalmia and periodic paralysis. SS should be considered as a cause of RTA. The treatment of the underlying disorder may ameliorate the symptoms. PMID:25988057

  4. Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes

    PubMed Central

    Piram, Maryam; Koné-Paut, Isabelle; Lachmann, Helen J; Frenkel, Joost; Ozen, Seza; Kuemmerle-Deschner, Jasmin; Stojanov, Silvia; Simon, Anna; Finetti, Martina; Sormani, Maria Pia; Martini, Alberto; Gattorno, Marco; Ruperto, Nicolino

    2014-01-01

    Objectives To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). Methods In 2010, an international collaboration established the content of a disease activity tool for HRFs. Patients completed a 1-month prospective diary with 12 yes/no items before a clinical appointment during which their physician assessed their disease activity by a questionnaire. Eight international experts in auto-inflammatory diseases evaluated the patient's disease activity by a blinded web evaluation and a nominal group technique consensus conference, with their consensus judgement considered the gold standard. Sensitivity/specificity/accuracy measures and the ability of the score to discriminate active from inactive patients via the best cut-off score were calculated by a receiver operating characteristic analysis. Results Consensus was achieved for 98/106 (92%) cases (39 FMF, 35 CAPS, 14 TRAPS and 10 MKD), with 26 patients declared as having inactive disease and 72 as having active disease. The median total AIDAI score was 14 (range=0–175). An AIDAI cut-off score ?9 discriminated active from inactive patients, with sensitivity/specificity/accuracy of 89%/92%/90%, respectively, and an area under the curve of 98% (95% CI 96% to 100%). Conclusions The AIDAI score is a valid and simple tool for assessing disease activity in FMF/MKD/TRAPS/CAPS. This tool is easy to use in clinical practice and has the potential to be used as the standard efficacy measure in future clinical trials. PMID:24026675

  5. Phenomics in Autoimmune and Inflammatory Diseases

    ClinicalTrials.gov

    2015-06-04

    Healthy Volunteer; Rheumatoid Arthritis; Ankylosing Spondylitis; Systemic Lupus Erythematosus/Antiphospholipid Syndrome; FMF; Cryopyrin-Associated Periodic Syndromes /TNF-receptor Associated Periodic Syndrome; Vasculitis; Uveitis; Myositis; Crohn's Disease; Ulcerative Rectocolitis; Type 1 Diabetes; Unclassified IAD Knee and/or Hip Arthritis, Muscular Dystrophy

  6. Periodic Fever and Neutrophilic Dermatosis: Is It Sweet's Syndrome?

    PubMed

    Assari, Raheleh; Ziaee, Vahid; Parvaneh, Nima; Moradinejad, Mohammad-Hassan

    2014-01-01

    A 7-year-old boy with high grade fever (39°C) and warm, erythematous, and indurated plaque above the left knee was referred. According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. In multiple previous admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After that, until 7th year of age, he had shoulder, gluteal, splenic, kidney, and left thigh lesions and pneumonia. The methylprednisolone pulse (30?mg/kg) was initiated with the diagnosis of Sweet's syndrome. After about 10-14 days, almost all of the laboratory data regressed to nearly normal limits. After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. In this admission, colchicine (1?mg/kg) was added to the oral prednisolone after discharge. In the periodic fever and neutrophilic dermatosis, the rheumatologist should search for sterile abscesses in other organs. PMID:25544911

  7. Periodicity of Sleep States is Altered in Infants at Risk for the Sudden Infant Death Syndrome

    Microsoft Academic Search

    R. M. Harper; B. Leake; H. Hoffman; D. O. Walter; T. Hoppenbrouwers; J. Hodgman; M. B. Sterman

    1981-01-01

    The normal succession of sleep and waking states through a night is disturbed in infants at risk for the sudden infant death syndrome. Compared with normal infants, siblings of the sudden infant death syndrome victims have longer intervals between active sleep epochs at particular times during the night in the newborn period and a decreased tendency to enter short waking

  8. The Rockefeller University Press $30.00 J. Exp. Med.

    E-print Network

    with chronic granulomatous disease (CGD) or mice engineered to lack components of the NOXs have increased used: CAPS, cryopyrin-associated periodic syndromes; CGD, chronic granulomatous disease; DHR in inflammatory diseases including rheumatoid arthritis (Filippin et al., 2008), multiple sclerosis (Gilgun

  9. Brugada syndrome and its relevance in the perioperative period.

    PubMed

    Sorajja, Dan; Ramakrishna, Harish; Poterack, A Karl; Shen, Win-Kuang; Mookadam, Farouk

    2015-01-01

    Brugada syndrome is an autosomal dominant genetic disorder associated with an increased risk of sudden cardiac death, as well as ventricular tachyarrhythmias.The defective cardiac sodium channels result in usual electrocardiographic findings of a coved-type ST elevation in precordial leads V1 to V3. The majority of patients have uncomplicated courses with anesthesia, surgery, and invasive procedures. However there is risk of worsening ST elevation and ventricular arrhythmias due to perioperative medications, surgical insult, electrolyte abnormalities, fever, autonomic nervous system tone, as well as other perturbations. Given the increasing numbers of patients with inherited conduction disorders presenting for non-cardiac surgery that are at risk of sudden cardiac death, safe anesthetic management depends upon a detailed knowledge of these conditions. PMID:26139749

  10. Changes in Yearly Birth Prevalence Rates of Children with Down Syndrome in the Period 1986-2007 in the Netherlands

    ERIC Educational Resources Information Center

    de Graaf, G.; Haveman, M.; Hochstenbach, R.; Engelen, J.; Gerssen-Schoorl, K.; Poddighe, P.; Smeets, D.; van Hove, G.

    2011-01-01

    Background: The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method: On the basis of the annual child/adult ratio of Down syndrome diagnoses in five out of the eight Dutch…

  11. Targeting IL1? in disease; the expanding role of NLRP3 inflammasome

    Microsoft Academic Search

    Ioannis Mitroulis; Panagiotis Skendros; Konstantinos Ritis

    2010-01-01

    NLRP3 inflammasome activation and IL-1? secretion have recently emerged as a central mechanism in the pathogenesis of disease. Genetically defined syndromes like cryopyrin-associated periodic syndromes (CAPS, cryopyrinopathies) and familial Mediterranean fever (FMF) or diseases associated with NLRP3 activation by danger signals like gout, pseudogout, Alzheimer's disease or type 2 diabetes are included in this group of diseases. The contribution of

  12. Tumor necrosis factor receptor-associated periodic syndrome managed with the couple canakinumab-alendronate.

    PubMed

    Lopalco, Giuseppe; Rigante, Donato; Vitale, Antonio; Frediani, Bruno; Iannone, Florenzo; Cantarini, Luca

    2015-04-01

    Management of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is puzzling, and therapeutic choices can be complicated, due to both wide genetic heterogeneity and protean clinical phenotype. We report on a 35-year-old female who was diagnosed with TRAPS, after finding the V95M mutation on the TNFRSF1A gene; who was treated in order with etanercept, anakinra, and canakinumab (150 mg/every 8 weeks by subcutaneous injection, then increased to 150 mg every 4 weeks); and who started therapy with oral alendronate (70 mg/weekly) to control her osteoporosis. Alendronate combined with canakinumab led to the optimal clinical control of all TRAPS manifestations and normalization of inflammatory markers. Further studies should be performed to clarify bisphosphonates' role in the scenery of autoinflammatory disorders. PMID:24609716

  13. Focus sur les inhibiteurs de l’interleukine 1

    Microsoft Academic Search

    Linda Rossi-Semerano; Isabelle Koné-Paut

    Interleukin-1 (IL-1) targeting agents (anti-IL-1) dramatically changed the life of patients affected by Cryopyrin Associated Periodic Syndromes (CAPS), a group of rare diseases caused by IL-1? oversecretion. During the last decade, the research led to a better comprehension of the role of IL-1 and innate immunity in the pathogenesis of these disorders and of other hereditary autoinflammatory diseases. On the

  14. Tratamiento de los síndromes periódicos asociados a la criopirina (CAPS)

    Microsoft Academic Search

    Santiago Jiménez Treviño; Eduardo Ramos Polo

    2011-01-01

    Non-steroidal anti-inflammatories, corticoids and antihistamines, as well as a great many other molecules, have classically been used to control the symptoms of cryopyrin-associated periodic syndromes (CAPS), with very few encouraging results. Knowledge of its genetic character, and its aetiopathogenesis associated with inflammasome and the production of interlekin-1 (IL-1) has led to the development of new therapeutic weapons that have not

  15. Treatment of Inflammasome-Related Disorders

    Microsoft Academic Search

    Helen J. Lachmann

    \\u000a IL-1? appears to play a key role in a wide variety of inflammatory diseases. Conditions range from the very rare such as the\\u000a inherited autoinflammatory disorders particularly cryopyrin-associated periodic syndrome (CAPS) to much common acquired disorders\\u000a such as gout [1], silica-mediated pulmonary fibrosis [2], as well as perhaps myeloma [3], atherosclerosis [4], and type II\\u000a diabetes mellitus [5].

  16. The NLR network and the immunological disease continuum of adaptive and innate immune-mediated inflammation against self

    Microsoft Academic Search

    Dennis McGonagle; Sinisa Savic; Michael F. McDermott

    2007-01-01

    The nucleotide-binding domain, leucine-rich repeat containing family (NLR) network has provided pivotal genetic and molecular\\u000a insights into diseases that were hitherto regarded as autoimmune. The NLR-related disorders include rare monogenic autoinflammatory\\u000a diseases collectively termed cryopyrin-associated periodic syndromes, Crohn’s disease which is a common polygenic disease\\u000a and also an association at the mechanistic level with gout and pseudogout. Unlike the classical

  17. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

    Microsoft Academic Search

    Laurence Cuisset; Joost PH Drenth; Anna Simon; Marie Francoise Vincent; Saskia van der Velde Visser; Jos WM van der Meer; Gilles Grateau; Marc Delpech

    2001-01-01

    Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is an autosomal recessive inflammatory disorder characterised by recurrent episode of fever associated with lymphadenopathy, abdominal distress, joint involvement and skin lesions. We recently demonstrated that mutations in the mevalonate kinase gene (MVK) are associated with HIDS. Direct DNA sequencing was done to screen the entire coding region of MVK in 25 unrelated

  18. SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.

    PubMed

    Bens, S; Zichner, T; Stütz, A M; Caliebe, A; Wagener, R; Hoff, K; Korbel, J O; von Bismarck, P; Siebert, R

    2014-01-01

    Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome is an auto-inflammatory disease for which a genetic basis has been postulated. Nevertheless, in contrast to the other periodic fever syndromes, no candidate genes have yet been identified. By cloning, following long insert size paired-end sequencing, of a de novo chromosomal translocation t(10;17)(q11.2;p13) in a patient with typical PFAPA syndrome lacking mutations in genes associated with other periodic fever syndromes we identified SPAG7 as a candidate gene for PFAPA. SPAG7 protein is expressed in tissues affected by PFAPA and has been functionally linked to antiviral and inflammatory responses. Haploinsufficiency of SPAG7 due to a microdeletion at the translocation breakpoint leading to loss of exons 2-7 from one allele was associated with PFAPA in the index. Sequence analyses of SPAG7 in additional patients with PFAPA point to genetic heterogeneity or alternative mechanisms of SPAG7 deregulation, such as somatic or epigenetic changes. PMID:24452265

  19. Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period.

    PubMed

    Kind, Terry; Levy, Joseph; Lee, Margaret; Kaicker, Shipra; Nicholson, John F; Kane, Steven A

    2002-05-01

    Anew case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. A 28-day-old boy presented with failure to thrive, hypotonia, pancytopenia, and features of HUS (microangiopathic hemolytic anemia, thrombocytopenia, and renal failure). The possibility of the diagnosis of an underlying vitamin B12 disorder was prompted by evidence of megaloblastic changes on the peripheral smear and by finding in the literature a suggested association of neonatal HUS with this cobalamin-related metabolic disorder. Amino acid analysis showed elevated homocysteine levels in the plasma and increased levels of both homocysteine and methyl malonic acid in the urine. Diagnosis of cobalamin C disease was confirmed by complementation studies using skin fibroblasts. Therapy included parenteral hydroxocobalamin, carnitine, and leucovorin calcium (folinic acid). Cobalamin C disease should be considered in the diagnosis of patients presenting with HUS in infancy who have unexplained megaloblastosis, pancytopenia, neurologic impairment, and failure to thrive. Early diagnosis and institution of therapy may be effective in improving survival and quality of life. PMID:11972107

  20. Language Development in Down Syndrome: From the Prelinguistic Period to the Acquisition of Literacy

    ERIC Educational Resources Information Center

    Abbeduto, Leonard; Warren, Steven F.; Conners, Frances A.

    2007-01-01

    Down syndrome (DS) is associated with abnormalities in multiple organ systems and a characteristic phenotype that includes numerous behavioral features. Language, however, is among the most impaired domains of functioning in DS and, perhaps, also the greatest barrier to independent meaningful inclusion in the community. In this article, we review…

  1. Restless leg syndrome, periodic limb movements, febrile seizures and Attention deficit hyperactivity disorder in an Indian family.

    PubMed

    Gupta, Meena; Batra, Amit; Trivedi, Anurag; Chowdhury, Debashish; Khwaja, Geeta A

    2012-01-01

    Restless leg syndrome (RLS) is a common neurological disorder which can affect individuals of all age groups and incidence increasing with age. It can cause severe sleep disruption and negatively impact quality of life of an individual. Its diagnosis is clinical, based on essential criteria of International RLS Study Group. It can be idiopathic or associated with various medical and other neurological disorders. Idiopathic RLS can be sporadic or may have a familial inheritance, with several genetic loci been reported till date. RLS has a strong association with periodic limb movements, both sleep and awake. Very few studies of familial RLS/Periodic limb movements in sleep and their associations have been reported. We report an Indian family with autosomal dominant RLS/PLMS, with RLS and PLMS as well as psychiatric disorders, febrile seizures and Attention Deficit Hyperactivity Disorder in different family members, over three generations. PMID:22412272

  2. Remission of severe restless legs syndrome and periodic limb movements in sleep after bilateral excision of multiple foot neuromas: a case report

    PubMed Central

    2010-01-01

    Introduction Restless legs syndrome is a sensorimotor neurological disorder characterized by an urge to move the legs in response to uncomfortable leg sensations. While asleep, 70 to 90 percent of patients with restless legs syndrome have periodic limb movements in sleep. Frequent periodic limb movements in sleep and related brain arousals as documented by polysomnography are associated with poorer quality of sleep and daytime fatigue. Restless legs syndrome in middle age is sometimes associated with neuropathic foot dysesthesias. The causes of restless legs syndrome and periodic limb movements in sleep are unknown, but the sensorimotor symptoms are hypothesized to originate in the central nervous system. We have previously determined that bilateral forefoot digital nerve impingement masses (neuromas) may be a cause of both neuropathic foot dysesthesias and the leg restlessness of restless legs syndrome. To the best of our knowledge, this case is the first report of bilateral foot neuromas as a cause of periodic limb movements in sleep. Case presentation A 42-year-old Caucasian woman with severe restless legs syndrome and periodic limb movements in sleep and bilateral neuropathic foot dysesthesias was diagnosed as having neuromas in the second, third, and fourth metatarsal head interspaces of both feet. The third interspace neuromas represented regrowth (or 'stump') neuromas that had developed since bilateral third interspace neuroma excision five years earlier. Because intensive conservative treatments including repeated neuroma injections and various restless legs syndrome medications had failed, radical surgery was recommended. All six neuromas were excised. Leg restlessness, foot dysesthesias and subjective sleep quality improved immediately. Assessment after 18 days showed an 84 to 100 percent reduction of visual analog scale scores for specific dysesthesias and marked reductions of pre-operative scores of the Pittsburgh sleep quality index, fatigue severity scale, and the international restless legs syndrome rating scale (36 to 4). Polysomnography six weeks post-operatively showed improved sleep efficiency, a marked increase in rapid eye movement sleep, and marked reductions in hourly rates of both periodic limb movements in sleep with arousal (135.3 to 3.3) and spontaneous arousals (17.3 to 0). Conclusion The immediate and near complete remission of symptoms, the histopathology of the excised tissues, and the marked improvement in polysomnographic parameters documented six weeks after surgery together indicate that this patient's severe restless legs syndrome and periodic limb movements in sleep was of peripheral nerve (foot neuroma) origin. Further study of foot neuromas as a source of periodic limb movements in sleep and as a cause of sleep dysfunction in patients with or without concomitant restless legs syndrome, is warranted. PMID:20849622

  3. Periodic Limb Movements in Sleep Contribute to Further Cardiac Structure Abnormalities in Hemodialysis Patients with Restless Legs Syndrome

    PubMed Central

    Giannaki, Christoforos D.; Zigoulis, Paris; Karatzaferi, Christina; Hadjigeorgiou, Georgios M.; George, Keith P.; Gourgoulianis, Konstantinos; Koutedakis, Yiannis; Stefanidis, Ioannis; Sakkas, Giorgos K.

    2013-01-01

    Study Objectives: In hemodialysis (HD) patients, restless legs syndrome (RLS) and periodic limb movements in sleep (PLMS) constitute common sleep disorders. Recent findings indicate a role for PLMS as a risk factor in the development of new or the aggravation of existing cardiovascular disease. The aim of the current study was to investigate the association of PLMS with indices of cardiac morphology and function in HD patients with RLS as a potential pathway by which PLMS could alter cardiovascular risk. Methods: Based on PLMS diagnosis by an overnight polysomnographic evaluation, 19 stable HD-RLS patients were divided into the PLMS group (n = 10) and the non-PLMS group (n = 9). During the overnight assessment, nocturnal blood pressure (BP) indices were also assessed. Left ventricular (LV) dimensions were examined by M-mode echocardiography, whereas LV diastolic function was evaluated by conventional Doppler and tissue Doppler imaging the following day. Results: LV internal diameter in diastole was significantly increased in the PLMS group (4.96 ± 0.61 vs 4.19 ± 0.48 cm, p = 0.007), leading to a significantly increase in LV mass (202 ± 52 vs 150 ± 37 g, p = 0.026). In contrast, no between group differences were observed in diastolic function indices (p > 0.05). Conclusions: These are the first data to associate severe PLMS with further LV structure abnormalities in HD patients with RLS. Citation: Giannaki CD; Zigoulis P; Karatzaferi C; Hadjigeorgiou GM; George KP; Gourgoulianis K; Koutedakis Y; Stefanidis I; Sakkas GK. Periodic limb movements in sleep contribute to further cardiac structure abnormalities in hemodialysis patients with restless legs syndrome. J Clin Sleep Med 2013;9(2):147–153. PMID:23372468

  4. Collapse of skin antioxidant status during the subacute period of cutaneous radiation syndrome: a case report.

    PubMed

    Benderitter, Marc; Isoir, Muriel; Buard, Valérie; Durand, Valérie; Linard, Christine; Vozenin-Brotons, Marie Catherine; Steffanazi, Jean; Carsin, Hervé; Gourmelon, Patrick

    2007-01-01

    This case report describes a patient suffering from accidental cutaneous radiation syndrome. Clinical symptoms were characterized by the presence of moist epidermal denudation over approximately 8% of the body surface without signs of necrosis 88 days after radiation exposure. The skin transcriptional profile was obtained and provides a comprehensive overview of the changes in gene expression associated with skin wound healing after irradiation. In particular, our data show a specific set of genes, i.e. SOD1, GPX1, TDX1, TDX2 and HSP60, implicated in the redox control of normal skin repair after radiation exposure, whereas HOX1 and HOX2 were involved in the pathological skin repair. A reduction in the antioxidant capacity of the irradiated tissue concomitant with a progressive establishment of an uncontrolled inflammatory response was noted. Our data corroborate the hypothesis that ROS modulation is a key element of the healing response after cutaneous exposure to radiation and that the collapse of skin antioxidant status interferes directly with wound healing in skin after radiation exposure. Thus a better understanding of the molecular events through which oxidative stress modulates the healing response could result in a more rational therapeutic approach to the pathological process induced after exposure of skin to radiation. PMID:17214513

  5. Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome.

    PubMed

    de Wolff, Jacob F; Dickinson, Stephen J; Smith, Alice C; Molyneux, Karen; Feehally, John; Simon, Anna; Barratt, Jonathan

    2009-12-01

    In order to determine the glycosylation pattern for IgD, and to examine whether there are changes in the pattern of IgD and IgA1 O-glycosylation in patients with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) during acute febrile attacks and during periods of quiescence, serum was obtained from 20 patients with HIDS and 20 control subjects. In the HIDS group, serum was obtained either during an acute febrile episode (n = 9) or during a period of quiescence (n = 11). The O-glycosylation profiles of native and desialylated IgA1 and IgD were measured in an ELISA-type system using the lectins Helix aspersa and peanut agglutinin, which bind to alternative forms of O-glycan moieties. IgD is more heavily O-galactosylated and less O-sialylated than IgA1 in healthy subjects. HIDS is associated with more extensive O-galactosylation of IgD and a reduction in O-sialylation of both IgD and IgA1. These changes are present both during acute febrile attacks and periods of quiescence. The T cell IgD receptor is a lectin with binding affinity for the O-glycans of both IgD and IgA1. The observed changes in IgD and IgA1 O-glycosylation are likely to have a significant effect on IgD/IgA1-T cell IgD receptor interactions including basal immunoglobulin synthesis, and possibly myeloid IgD receptor-mediated cytokine release. PMID:19543954

  6. Comparison of early postoperative period electrophysiological and clinical findings following carpal tunnel syndrome: is EMG necessary?

    PubMed Central

    Aksekili, Mehmet At?f Erol; Biçici, Vedat; I??k, Çetin; Aksekili, Hatice; U?urlu, Mahmut; Do?an, Metin

    2015-01-01

    In this study, we aimed to compare the clinical findings and ENMG results of the patients who underwent surgery due to CTS, in the preoperative and early postoperative period. Methods: 33 wrists of 29 patients who underwent open carpal tunnel surgery in our clinic due to CTS, between 2009 and 2011, were evaluated. Electrophysiological progress was evaluated with ENMG and clinical state with Boston scale. Results: A significant decrease was observed in the postoperative BS symptomatic (SSS) and functional (FSS) scores of patients as compared to preoperative period (P=0.00). In the electrophysiological findings, statistically significant improvement was observed in all groups but very severe CTS group (P<0.05). When preoperative and postoperative EMG findings were compared, changes in DSL and DSA values were statistically significant (P<0.05). However, no statistically significant difference was seen between DML (P=0.085) and DMA (P=246) values on the 3rd month. When an examination was conducted on the patients whose DML and DSL values could not be obtained in the preoperative EMG, DML values were obtained in the early postoperative period in 6 of 7 cases (85.71%, P<0.001), and DSL values were obtained in 17 of 24 cases (70.8%, P<0.000). Conclusions: Sensory nerve findings were more significant, showed faster recovery compared to motor nerve findings, and accompanied the clinical recovery. Performance of an EMG test, especially on sensory nerves, will be more effective in patients selected in the early period, with the exception of patients with very severe CTS. PMID:26131237

  7. A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

    PubMed Central

    Olsson, Mia; Mauceli, Evan; Quilez, Javier; Tonomura, Noriko; Zanna, Giordana; Docampo, Maria José; Bassols, Anna; Avery, Anne C.; Karlsson, Elinor K.; Thomas, Anne; Kastner, Daniel L.; Bongcam-Rudloff, Erik; Webster, Matthew T.; Sanchez, Armand; Hedhammar, Åke; Remmers, Elaine F.; Andersson, Leif; Ferrer, Lluis; Tintle, Linda; Lindblad-Toh, Kerstin

    2011-01-01

    Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA) signal for susceptibility to the periodic fever syndrome (praw?=?2.3×10?6, pgenome?=?0.01). Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2) gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA), a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p<0.0001). When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation. PMID:21437276

  8. A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities

    Microsoft Academic Search

    Shimpei Kasagi; Seiji Kawano; Takashi Nakazawa; Hirotoshi Sugino; Masahiro Koshiba; Kunihiro Ichinose; Hiroaki Ida; Katsumi Eguchi; Shunichi Kumagai

    2008-01-01

    A 24-year-old Japanese woman had been suffering from a periodic fever since 10 months of age. She developed deformities in\\u000a her fingers, with severe atrophy of subcutaneous adipose tissue, myositis, and frostbitten hands. She showed elevated C-reactive\\u000a protein, creatine kinase, and ?-globulin. She was also positive for antinuclear, anti-DNA, anti-SS-B, and anti-U1RNP antibodies.\\u000a Her myositis was similar to amyopathic dermatomyositis rather

  9. Microbes of the tonsils in PFAPA (Periodic Fever, Aphtous stomatitis, Pharyngitis and Adenitis) syndrome - a possible trigger of febrile episodes.

    PubMed

    Lantto, Ulla; Koivunen, Petri; Tapiainen, Terhi; Glumoff, Virpi; Hirvikoski, Pasi; Uhari, Matti; Renko, Marjo

    2015-06-01

    Periodic Fever, Aphtous stomatitis, Pharyngitis, and Adenitis (PFAPA) is a childhood febrile syndrome that is often cured by tonsillectomy (TE). We hypothesized that microbes present in the tonsils may act as a trigger for the activation of inflammasomes and investigated the microbiology of the tonsils in PFAPA patients and controls. We recruited 31 consecutive children who underwent TE due to PFAPA; 24 children who underwent TE due to other reasons served as controls. We cultured all the samples for bacteria, mycobacteria, yeasts, and viruses and used PCR for 15 viruses. Also biofilm formation and histologic findings were identified. The samples of the patients yielded Candida albicans more often than did the controls (16 vs 0%, p = 0.003). Staphylococcus aureus occurred in only 10% of the patients, but in 38% of the controls (p = 0.01). Varicella zoster and Herpes simplex viruses occurred less often in patients than in controls. Biofilm was present in 55% of PFAPA tonsils, but in only 24% of the controls (p = 0.03). The microbes found in the tonsils of PFAPA patients showed significant differences from those of controls. This may in part explain the efficacy of TE in PFAPA. PMID:25907769

  10. Comparison of sleep variables between chronic widespread musculoskeletal pain, insomnia, periodic leg movements syndrome and control subjects in a clinical sleep medicine practice

    Microsoft Academic Search

    Kazuo Okura; Gilles J. Lavigne; Nelly Huynh; Christiane Manzini; Daniel Fillipini; Jacques Y. Montplaisir

    2008-01-01

    BackgroundBetween 50% and 89% of chronic pain patients report unrefreshing sleep. The aim of this retrospective analysis was to compare the sleep of normal subjects with the sleep of a clinical population presenting musculoskeletal chronic widespread pain (CWP), psychophysiological insomnia and restless legs syndrome\\/periodic limb movements during sleep (RLS\\/PLMS) in order to identify sleep variables that may explain the poor

  11. Effects of the use of MIG3 bioceramics fabrics use - long infrared emitter - in pain, intolerance to cold and periodic limb movements in post-polio syndrome

    Microsoft Academic Search

    Tatiana Mesquita e Silva; Gustavo Antonio Moreira; Abrahão Augusto Juviniano Quadros; Márcia Pradella-Hallinan; Sergio Tufik; Acary Souza Bulle Oliveira

    2009-01-01

    The main post-polio syndrome (PPS) symptoms are new-onset weakness, new-onset atrophy, fatigue, cold intolerance, and pain associated with sleep disturbances. The polysomnographic study is the gold pattern to analyze sleep disorders. Objective: To assess pain, intolerance to cold and periodic limb movements (PLM) index before and after the use of MIG3 bioceramic fabrics over 4 weeks. Method: 12 patients with

  12. First Report of Circulating MicroRNAs in Tumour Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)

    PubMed Central

    Ferracin, Manuela; Fulci, Valerio; McDermott, Michael F.; Merlini, Giampaolo; Muscari, Isabella; Magnotti, Flora; Dickie, Laura J.; Galeazzi, Mauro; Negrini, Massimo; Baldari, Cosima Tatiana; Cimaz, Rolando; Cantarini, Luca

    2013-01-01

    Tumor necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterized by recurrent episodes of long-lasting fever and inflammation in different regions of the body, such as the musculo-skeletal system, skin, gastrointestinal tract, serosal membranes and eye. Our aims were to evaluate circulating microRNAs (miRNAs) levels in patients with TRAPS, in comparison to controls without inflammatory diseases, and to correlate their levels with parameters of disease activity and/or disease severity. Expression levels of circulating miRNAs were measured by Agilent microarrays in 29 serum samples from 15 TRAPS patients carrying mutations known to be associated with high disease penetrance and from 8 controls without inflammatory diseases. Differentially expressed and clinically relevant miRNAs were detected using GeneSpring GX software. We identified a 6 miRNAs signature able to discriminate TRAPS from controls. Moreover, 4 miRNAs were differentially expressed between patients treated with the interleukin (IL)-1 receptor antagonist, anakinra, and untreated patients. Of these, miR-92a-3p and miR-150-3p expression was found to be significantly reduced in untreated patients, while their expression levels were similar to controls in samples obtained during anakinra treatment. MiR-92b levels were inversely correlated with the number of fever attacks/year during the 1st year from the index attack of TRAPS, while miR-377-5p levels were positively correlated with serum amyloid A (SAA) circulating levels. Our data suggest that serum miRNA levels show a baseline pattern in TRAPS, and may serve as potential markers of response to therapeutic intervention. PMID:24066048

  13. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation

    PubMed Central

    Fan, Chunxiang; Lehmann-Horn, Frank; Weber, Marc-André; Bednarz, Marcin; Groome, James R.; Jonsson, Malin K. B.

    2013-01-01

    We studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acute oedema with neuronal compression and drop foot). 23Na and 1H magnetic resonance imaging displayed myoplasmic sodium overload, and oedema. We identified a novel familial Cav1.1 calcium channel mutation, R1242G, localized to the third positive charge of the domain IV voltage sensor. Functional expression of R1242G in the muscular dysgenesis mouse cell line GLT revealed a 28% reduced central pore inward current and a ?20 mV shift of the steady-state inactivation curve. Both changes may be at least partially explained by an outward omega (gating pore) current at positive potentials. Moreover, this outward omega current of 27.5 nS/nF may cause the reduction of the overshoot by 13 mV and slowing of the upstroke of action potentials by 36% that are associated with muscle hypoexcitability (permanent weakness and myopathic myopathy). In addition to the outward omega current, we identified an inward omega pore current of 95 nS/nF at negative membrane potentials after long depolarizing pulses that shifts the R1242G residue above the omega pore constriction. A simulation reveals that the inward current might depolarize the fibre sufficiently to trigger calcium release in the absence of an action potential and therefore cause an electrically silent depolarization-induced muscle contracture. Additionally, evidence of the inward current can be found in 23Na magnetic resonance imaging-detected sodium accumulation and 1H magnetic resonance imaging-detected oedema. We hypothesize that the episodes are normokalaemic because of depolarization-induced compensatory outward potassium flux through both delayed rectifiers and omega pore. We conclude that the position of the R1242G residue before elicitation of the omega current is decisive for its conductance: if the residue is located below the gating pore as in the resting state then outward currents are observed; if the residue is above the gating pore because of depolarization, as in the inactivated state, then inward currents are observed. This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Cav1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis. PMID:24240197

  14. A pilot study to compare the cerebral hemodynamics between patients with obstructive sleep apnea syndrome (OSA) and periodic limb movement syndrome (PLMS) during nocturnal sleep with near-infrared spectroscopy (NIRS)

    NASA Astrophysics Data System (ADS)

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

    2014-03-01

    Obstructive sleep apnea syndrome (OSA) and periodic limb movement in sleep syndrome (PLMS) are two common sleep disorders. Previous studies showed that OSA and PLMS share common features, such as increased cardio-vascular risk, both apnea events and limb movements occur periodically, they are usually associated with cortical arousals, and both of them can induce declines in peripheral oxygen saturation measured with pulse oximetry. However, the question whether apnea events and limb movements also show similar characteristics in cerebral hemodynamic and oxygenation has never been addressed. In this pilot study, we will first time compare the cerebral hemodynamic changes induced by apnea events and limb movements in patients with OSA (n=4) and PLMS (n=4) with NIRS. In patients with OSA, we found periodic oscillations in HbO2, HHb, and blood volume induced by apnea/hypopnea events, HbO2 and HHb showed reverse changing trends. By contrast, the periodic oscillations linked to limb movements were only found in HbO2 and blood volume in patients with PLMS. These findings of different cerebral hemodynamics patterns between apnea events and limb movements may indicate different regulations of nervous system between these two sleep disorders.

  15. LONG CHAIN FATTY ACID (LCFA) ABNORMALITIES IN HYPER IgD SYNDROME (HIDS) AND FAMILIAL MEDITERRANEAN FEVER (FMF): NEW INSIGHT INTO HERITABLE PERIODIC FEVERSa

    PubMed Central

    Simon, Anna; Drenth, Joost PH; Matern, Dietrich; Goetzman, Eric S.; Hager, Elizabeth J.; Gibson, K Michael

    2013-01-01

    Objective To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF). Methods EFAs were determined in sera derived from an archival, cross-sectional group of HIDS/FMF patients, stratified for presence and absence of fever. Control populations included healthy afebrile adults, and individuals with non-periodic fever (septic shock). EFAs were quantified using isotope dilution gas chromatography-mass spectrometry and data analyzed employing a Kruskal-Wallis non-parametric ANOVA with Dunn's post-hoc test. Results Sera samples derived from HIDS patients showed significantly decreased C20, C26, phytanic and pristanic acids during febrile crises that normalized in the afebrile state, and a significantly increased afebrile C22_?46 level that normalized with fever. Samples derived from FMF patients revealed increased ?-oxidized LCFAs as compared to controls, and the trend was for these same species to be increased in comparison to febrile, but not afebrile, HIDS patients. Individuals with non-periodic fever demonstrated global decreases in C10–C24 fatty acids, both saturated and unsaturated, accompanied by an elevated triene/tetraene ratio. Conclusions Our results suggest that different mechanisms are active in hereditary periodic fever syndromes that appear unrelated to fever, including depletion of very long chain fatty acids (VLCFAs) in febrile HIDS patients and increased ?-oxidized LCFAs in patients with FMF. These findings underscore new roles for EFAs in the potential production of inflammatory species in patients with hereditary periodic fever. PMID:23375471

  16. Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

    PubMed

    Gioia, Silvio Alessandro Di; Bedoni, Nicola; von Scheven-Gête, Annette; Vanoni, Federica; Superti-Furga, Andrea; Hofer, Michaël; Rivolta, Carlo

    2015-01-01

    PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors. PMID:25988833

  17. Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

    PubMed Central

    Gioia, Silvio Alessandro Di; Bedoni, Nicola; von Scheven-Gête, Annette; Vanoni, Federica; Superti-Furga, Andrea; Hofer, Michaël; Rivolta, Carlo

    2015-01-01

    PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors. PMID:25988833

  18. Reduced Number of CD8+ Cells in Tonsillar Germinal Centres in Children with the Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome.

    PubMed

    Førsvoll, J; Janssen, E A M; Møller, I; Wathne, N; Skaland, I; Klos, J; Kristoffersen, E K; Øymar, K

    2015-07-01

    The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is an autoinflammatory disorder of unknown aetiology. Tonsillectomy may cause a prompt resolution of the syndrome. The aim was to study the histologic and immunological aspects of the palatine tonsils in PFAPA, to help understand the pathophysiology of the syndrome. Tonsils from children with PFAPA (n = 11) and children with tonsillar hypertrophy (n = 16) were evaluated histologically after haematoxylin and eosin staining. The number of different cell types was identified immunohistochemically by cluster of differentiation (CD) markers: CD3 (T cells), CD4 (T helper cells), CD8 (cytotoxic T cells), CD15 (neutrophils), CD20 (B cells), CD45 (all leucocytes), CD57 (NK cells) and CD163 (monocytes and macrophages). Tonsils from children with PFAPA showed reactive lymphoid hyperplasia dominated by well-developed germinal centres with many tingible body macrophages. The histologic findings were unspecific, and a similar morphologic appearance was also found in the tonsils from controls. The number of CD8+ cells in germinal centres differed between children with PFAPA [median 9 cells (quartiles: 5, 15)] and controls [18 cells (12, 33) (P = 0.001)] and between children with PFAPA with (median 14 cells; 9, 16) and without (4 cells; 3, 8) aphthous stomatitis (P = 0.015). For the other cell types, no differences in germinal centres were found between children with PFAPA and controls. In conclusion, a lower number of CD8+ cells were found in germinal centres of tonsils in children with PFAPA compared to controls, which may be a feature linked to the aetiology of the syndrome. PMID:25882211

  19. Ectopic ACTH syndrome revealed as severe hypokalemia and persistent hypertension during the perioperative period: a case report

    Microsoft Academic Search

    Shun Kishimoto; Kiichi Hirota; Hajime Segawa; Kazuhiko Fukuda

    2011-01-01

    Both severe hypokalemia and persistent hypertension are clinical symptoms of hyperaldosteronism. Hyperaldosteronism may occur\\u000a as a primary or secondary syndrome. Excess ACTH produced ectopically by tumors may induce hyperaldosteronism through the mineralocorticoid\\u000a activity of glucocorticoids that are upregulated by ACTH. Licorice, with the active ingredient glycyrrhiza, is also a well-known\\u000a inducer of hyperaldosteronism under specific conditions. In this report, we

  20. Toxic Shock Syndrome

    MedlinePLUS

    ... about it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's ... period, you may have heard frightening stories about toxic shock syndrome (TSS), a serious illness originally linked ...

  1. [Clinical practice guide for the management of low cardiac output syndrome in the postoperative period of heart surgery].

    PubMed

    Pérez Vela, J L; Martín Benítez, J C; Carrasco González, M; de la Cal López, M A; Hinojosa Pérez, R; Sagredo Meneses, V; del Nogal Saez, F

    2012-05-01

    The low cardiac output syndrome is a potential complication in cardiac surgery patients and associated with increased morbidity and mortality. This guide is to provide recommendations for the management of these patients, immediately after surgery, admitted to the ICU. The recommendations are grouped into different sections, trying to answer from the most basic concepts such as the definition to the different sections of basic and advanced monitoring and ending with the complex management of this syndrome. We propose an algorithm for initial management, as well as two other for ventricular failure (predominantly left or right). Most of the recommendations are based on expert consensus because of the lack of randomized trials of adequate design and sample size in this group of patients. The quality of evidence and strength of the recommendations were made following the GRADE methodology. The guide is presented as a list of recommendations (and level of evidence for each recommendation) for each question on the selected topic. Then for each question, we proceed to the justification of the recommendations. PMID:22445905

  2. Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literature.

    PubMed

    Chen, Yun-Ju; Yu, Hsin-Hui; Yang, Yao-Hsu; Lau, Yu-Lung; Lee, Wen-I; Chiang, Bor-Luen

    2014-12-01

    Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to be more common in Western countries than in Asian countries. Here, we present the case of a 14-year-old girl with periodic fever and abdominal pain with elevation of inflammatory markers for 2 years. After extensive work-up of infectious etiology with negative results, the diagnosis of TRAPS was made although no gene mutations were identified in the TNFRSF1A gene, MVK gene, and NALP3/CIAS1 gene. She had partial clinical response to corticosteroids and immunomodulatory agents. However, the treatment response to TNF-? inhibitor etanercept was dramatic. She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS. PMID:22921805

  3. The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.

    PubMed

    Bascherini, Vittoria; Granato, Carmela; Lopalco, Giuseppe; Emmi, Giacomo; Vannozzi, Lorenzo; Bacherini, Daniela; Franceschini, Rossella; Iannone, Florenzo; Salerni, Annabella; Molinaro, Francesco; Messina, Mario; Frediani, Bruno; Selmi, Carlo; Rigante, Donato; Cantarini, Luca

    2015-07-01

    Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1?. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated. PMID:25833143

  4. Crush syndrome.

    PubMed

    Gonzalez, Dario

    2005-01-01

    The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

  5. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  6. Metabolic Syndrome

    MedlinePLUS

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

  7. Beals Syndrome

    MedlinePLUS

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

  8. Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

    PubMed Central

    De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela

    2013-01-01

    The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932

  9. Sjögren syndrome

    MedlinePLUS

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

  10. Cushing's Syndrome in Children

    MedlinePLUS

    ... www.CSRF.net Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  11. Meconium aspiration syndrome remains a significant problem in the NICU: outcomes and treatment patterns in term neonates admitted for intensive care during a ten-year period

    Microsoft Academic Search

    B S Singh; R H Clark; R J Powers; A R Spitzer

    2009-01-01

    Objective:The purpose of this study was to evaluate the demographic and treatment characteristics of neonates (?37 weeks' estimated gestational age) who were admitted to a neonatal intensive care unit (NICU) for a diagnosis of meconium aspiration syndrome (MAS) during the years 1997 to 2007. The goals in studying this group of neonates were to better estimate the magnitude of abnormal

  12. Narcotic Bowel Syndrome

    MedlinePLUS

    ... be caused by long-term narcotic use. The syndrome is characterized by chronic or periodic abdominal pain that gets worse when the effect of the narcotic drug wears down. In addition to pain, which is the primary ...

  13. Anesthesia & Down Syndrome

    MedlinePLUS

    ... neck) and airway size. How Do Behavior and Communication Issues Affect Anesthesia? The better we are at ... pre-anesthetic periods of evaluation and preparation. Receptive communication skills of people with Down syndrome are often ...

  14. Tourette Syndrome

    MedlinePLUS

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

  15. Tourette Syndrome

    MedlinePLUS

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

  16. Fanconi syndrome

    MedlinePLUS

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

  17. The inflammasome and IL-1?: implications for the treatment of inflammatory diseases.

    PubMed

    Satoh, Takashi; Otsuka, Atsushi; Contassot, Emmanuel; French, Lars E

    2015-01-01

    The bioactive form of IL-1?, a key immunoregulatory and proinflammatory cytokine, is produced by the inflammasome - a caspase-1 activating molecular platform - in response to selected danger-associated molecular patterns and pathogen-associated molecular patterns. Advances in understanding the role of IL-1? in inflammatory conditions has resulted in IL-1? becoming a therapeutic target for a number of inflammatory diseases beyond the rare monogenic autoinflammatory diseases characterized by aberrant inflammasome function and enhanced bioactive IL-1? production. In the monogenic autoinflammatory diseases known as cryopyrin-associated periodic syndromes, neutralization of IL-1? results in a rapid and sustained reduction in disease severity without severe side effects, which has consequently driven off-label applications of IL-1?-targeted therapy in other inflammatory diseases. This review summarizes inflammatory diseases for which accumulating evidence suggests a therapeutic potential for IL-1? antagonists. PMID:25804477

  18. Effects of periodic lung recruitment maneuvers on gas exchange and respiratory mechanics in mechanically ventilated acute respiratory distress syndrome (ARDS) patients

    Microsoft Academic Search

    G. Foti; M. Cereda; M. E. Sparacino; L. De Marchi; F. Villa; A. Pesenti

    2000-01-01

    Objective: We wished to investigate whether volume recruitment maneuvers (VRMs) could improve alveolar recruitment and oxygenation in\\u000a acute respiratory distress syndrome (ARDS) patients, ventilated at relatively low positive end-expiratory pressure (PEEP).\\u000a Setting: General intensive care unit (ICU) located in a teaching hospital. Patients: 15 PEEP responder ARDS patients undergoing continuous positive pressure ventilation (CPPV) with sedation and muscle paralysis.\\u000a Interventions:

  19. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

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

  20. Conventional Risk Factors and Acute Coronary Syndrome during a Period of Socioeconomic Transition: Population-based Case-control Study in Tirana, Albania

    PubMed Central

    Burazeri, Genc; Goda, Artan; Sulo, Gerhard; Stefa, Jonida; Roshi, Enver; Kark, Jeremy D.

    2007-01-01

    Aim To assess the association between conventional risk factors and acute coronary syndrome in Albania, a transitional country in Southeast Europe. Methods A population-based case-control study was conducted in Tirana in 2003-2006. A total of 467 consecutive patients with nonfatal acute coronary syndrome were recruited. There were 370 men with mean?±?standard deviation (SD) age of 59.1?±?8.7 years and 97 women with mean±SD age of 63.3?±?7.1 years. The control group comprised a population-representative sample of Tirana residents. In the control group, there were 469 men with mean±SD age of 53.1?±?10.4 years and 268 women aged 54.0?±?10.9 years. A structured questionnaire on demographic, socioeconomic, psychosocial factors, and health behaviors was administered. Physical measurements included anthropometrics and blood pressure. Venous blood and adipose tissue aspirations from the gluteal region were frozen-stored for future analysis. Multivariable-adjusted logistic regression was used to assess the independent associations of conventional risk factors with acute coronary syndrome. Results Upon adjustment for covariates, family history of coronary heart disease was found to be a strong predictor of acute coronary syndrome in both men (odds ratio [OR], 3.70; 95% confidence interval [CI], 2.58-5.30) and women (OR, 4.53; 2.40-8.57). Waist-to-hip ratio in men (OR, 4.03; 2.83-5.73) and obesity in women (OR, 3.31; 1.54-7.14) were strongly associated with acute coronary syndrome. In men, but not in women, there was a significant association with hypertension and current smoking (P?=?0.011 and P<0.001, respectively). Diabetes was not significantly independently associated in either sex. Conclusion Classical risk factors predicted coronary heart disease in Albania, similarly as in the rest of the world, although associations with family history and anthropometric indices were stronger. These findings are resulting largely from the heterogeneous adoption of lifestyles conducive to increased coronary risk in transitional countries, and they point to the urgent need for targeted public health interventions. PMID:17436387

  1. [Summary of the consensus document: "Clinical practice guide for the management of low cardiac output syndrome in the postoperative period of heart surgery"].

    PubMed

    Pérez Vela, J L; Martín Benitez, J C; Carrasco Gonzalez, M; de la Cal López, M A; Hinojosa Pérez, R; Sagredo Meneses, V; del Nogal Saez, F

    2012-05-01

    Low cardiac output syndrome is a potential complication in cardiac surgery patients and is associated with increased morbidity and mortality. This guide provides recommendations for the management of these patients, immediately after surgery and following admission to the ICU. The recommendations are grouped into different sections, addressing from the most basic concepts such as definition of the disorder to the different sections of basic and advanced monitoring, and culminating with the complex management of this syndrome. We propose an algorithm for initial management, as well as two others for ventricular failure (predominantly left or right). Most of the recommendations are based on expert consensus, due to the lack of randomized trials of adequate design and sample size in patients of this kind. The quality of evidence and strength of the recommendations were based on the GRADE methodology. The guide is presented as a list of recommendations (with the level of evidence for each recommendation) for each question on the selected topic. For each question, justification of the recommendations is then provided. PMID:22445904

  2. Tourette Syndrome

    MedlinePLUS

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

  3. Dravet Syndrome

    MedlinePLUS

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

  4. Down Syndrome

    MedlinePLUS

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

  5. Usher Syndrome

    MedlinePLUS

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

  6. Metabolic Syndrome

    MedlinePLUS

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

  7. Metabolic syndrome

    MedlinePLUS

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

  8. Comparative clinical effectiveness of prophylactic voriconazole/posaconazole to fluconazole/itraconazole in patients with acute myeloid leukemia/myelodysplastic syndrome undergoing cytotoxic chemotherapy over a 12-year period

    PubMed Central

    Ananda-Rajah, Michelle R.; Grigg, Andrew; Downey, Maria T.; Bajel, Ashish; Spelman, Tim; Cheng, Allen; Thursky, Karin T.; Vincent, Janette; Slavin, Monica A.

    2012-01-01

    Post-induction aplasia for acute myeloid leukemia/myelodysplastic syndrome is a high-risk period for invasive fungal diseases. The effectiveness of fluconazole, itraconazole solution, voriconazole and posaconazole prophylaxis used consecutively from December 1998 to January 2010 in patients with acute myeloid leukemia/myelodysplastic syndrome undergoing remission-induction chemotherapy was retrospectively evaluated. A total of 216 consecutive patients received 573 prophylaxis courses. Breakthrough-invasive fungal disease incidence in fluconazole, itraconazole, voriconazole, posaconazole recipients was 25%, 16%, 14% and 3%, respectively. Voriconazole/posconazole versus fluconazole/itraconazole combined was associated with significant reductions in breakthrough-invasive fungal disease incidence (20% vs. 8%, P=0.011), premature discontinuations (46% vs. 22% P<0.001) and empiric antifungal treatment (31% vs. 8.5%, P<0.001). Microbiologically confirmed infections were molds. Posaconazole compared to other drugs was associated with fewer courses requiring computed-tomography (43% vs. 26%, P<0.001). Adoption of voriconazole/posaconazole has decreased invasive fungal disease incidence, empiric antifungal treatment and for posaconazole, computed-tomography demand, with effectiveness of posaconazole comparable to clinical trial experience. PMID:22058198

  9. Jacobsen syndrome

    PubMed Central

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-01-01

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

  10. Recurrent Tolosa-Hunt Syndrome

    Microsoft Academic Search

    Jan Hannerz

    1992-01-01

    Twenty consecutive patients with recurrent Tolosa-Hunt syndrome were studied. One had a parent who suffered from recurrent Tolosa-Hunt syndrome. Thirty-three percent of the patients had also recurrent periods of weeks to months of unilateral periorbital pain without ophthalmoplegia. One patient had cluster headache before the Tolosa-Hunt syndrome started. Some patients had involvement of cranial nerves outside the cavernous sinus region

  11. Metabolic Syndrome

    MedlinePLUS

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

  12. Maternal supplementation with n-3 long chain polyunsaturated fatty acids during perinatal period alleviates the metabolic syndrome disturbances in adult hamster pups fed a high-fat diet after weaning.

    PubMed

    Kasbi-Chadli, Fatima; Boquien, Clair-Yves; Simard, Gilles; Ulmann, Lionel; Mimouni, Virginie; Leray, Véronique; Meynier, Anne; Ferchaud-Roucher, Véronique; Champ, Martine; Nguyen, Patrick; Ouguerram, Khadija

    2014-07-01

    Perinatal nutrition is thought to affect the long-term risk of the adult to develop metabolic syndrome. We hypothesized that maternal supplementation with eicosapentaenoic acid and docosahexaenoic acid during pregnancy and lactation would protect offspring fed a high-fat diet from developing metabolic disturbances. Thus, two groups of female hamsters were fed a low-fat control diet, either alone (LC) or enriched with n-3 long chain polyunsaturated fatty acids (LC-PUFA) (LO), through the gestational and lactation periods. After weaning, male pups were randomized to separate groups that received either a control low-fat diet (LC) or a high-fat diet (HC) for 16 weeks. Four groups of pups were defined (LC-LC, LC-HC, LO-LC and LO-HC), based on the combinations of maternal and weaned diets. Maternal n-3 LC-PUFA supplementation was associated with reduced levels of basal plasma glucose, hepatic triglycerides secretion and postprandial lipemia in the LO-HC group compared to the LC-HC group. Respiratory parameters were not affected by maternal supplementation. In contrast, n-3 LC-PUFA supplementation significantly enhanced the activities of citrate synthase, isocitrate dehydrogenase and ?-ketoglutarate dehydrogenase compared to the offspring of unsupplemented mothers. Sterol regulatory element binding protein-1c, diacylglycerol O-acyltransferase 2, fatty acid synthase, stearoyl CoA desaturase 1 and tumor necrosis factor ? expression levels were not affected by n-3 LC-PUFA supplementation. These results provide evidence for a beneficial effect of n-3 LC-PUFA maternal supplementation in hamsters on the subsequent risk of metabolic syndrome. Underlying mechanisms may include improved lipid metabolism and activation of the mitochondrial oxidative pathway. PMID:24767307

  13. Learning about Down Syndrome

    MedlinePLUS

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

  14. Premenstrual syndrome

    MedlinePLUS

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

  15. Tourette Syndrome

    MedlinePLUS

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

  16. Rett Syndrome

    MedlinePLUS

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

  17. Metabolic Syndrome

    MedlinePLUS

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

  18. Klinefelter syndrome

    MedlinePLUS

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

  19. Asperger Syndrome

    MedlinePLUS

    ... have certain genetic or chromosomal conditions, such as fragile X syndrome  or tuberous sclerosis . 11-14 When taken ... and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008; 113(1): 44- ...

  20. Hunter syndrome

    MedlinePLUS

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

  1. Goodpasture syndrome

    MedlinePLUS

    Goodpasture syndrome is a rare disease that can involve quickly worsening kidney failure and lung disease. Some ... Goodpasture syndrome is an autoimmune disorder . It occurs when the immune system mistakenly attacks and destroys healthy ...

  2. Joubert Syndrome

    MedlinePLUS

    ... sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. NIH Patient Recruitment for Joubert Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  3. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc. PMID:25983069

  4. Metabolic syndrome.

    PubMed

    Cho, L W

    2011-11-01

    Metabolic syndrome is a clustering of different risk factors that collectively increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and polycystic ovary syndrome. This review aims to discuss recent developments related to the syndrome, including the associated metabolic complications and goals for therapeutic strategies. PMID:22173246

  5. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5½-year-old child. PMID:22169837

  6. Aase syndrome

    MedlinePLUS

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

  7. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  8. Down syndrome

    MedlinePLUS

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

  9. Learning about Velocardiofacial Syndrome

    MedlinePLUS

    ... terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? What are the ... Syndrome Additional Resources for VCFS What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a genetic condition that ...

  10. [Capgras' syndrome].

    PubMed

    Ben-Zion, I Z; Levine, K; Shiber, A

    1997-09-01

    We present 3 cases of Capgras' syndrome-a delusional disorder in which the patient believes that 1 (or more) of his acquaintances has been replaced by an imposter who appears as a double. 2 were schizophrenics and 1 had depression with psychotic features. This syndrome is rare in our practice, but we do not know if this is due to lack of awareness of the condition, or to the possibility that it is a culture-related syndrome. We suggest that although the syndrome has lost some of it's significance, it is still worth making the diagnosis because of the medical and psychological implications this condition carries. PMID:9461686

  11. Down Syndrome What causes Down syndrome?

    E-print Network

    Palmeri, Thomas

    04/13 Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra chromosome 21. Down syndrome occurs in about 1 in every 700 to 1,000 births. The chance of giving birth to a baby with Down syndrome increases if the mother is over 35 years old. Down syndrome affects both males

  12. Marfan syndrome: a diagnostic dilemma.

    PubMed

    Viljoen, D; Beighton, P

    1990-06-01

    During a 17-year period (1971-1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker. PMID:2383927

  13. Periodic functions with variable period

    E-print Network

    M. V Pryjmak

    2010-06-08

    The examples of rhythmical signals with variable period are considered. The definition of periodic function with the variable period is given as a model of such signals. The examples of such functions are given and their variable periods are written in the explicit form. The system of trigonometric functions with the variable period is considered and its orthogonality is proved. The generalized system of trigonometric functions with the variable period is also suggested; some conditions of its existence are considered.

  14. Klinefelter Syndrome

    MedlinePLUS

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic centers called ...

  15. HELLP Syndrome

    MedlinePLUS

    ... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

  16. Genetics Home Reference: Noonan syndrome

    MedlinePLUS

    ... use for Noonan syndrome? familial Turner syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Noonan-Ehmke syndrome pseudo-Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype, ...

  17. CAPS - pathogenesis, presentation and treatment of an autoinflammatory disease.

    PubMed

    Kuemmerle-Deschner, Jasmin B

    2015-07-01

    The cryopyrin-associated periodic syndrome (CAPS) is a severity spectrum of rare diseases. CAPS comprises the three conditions previously described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic, cutaneous, and articular (CINCA) syndrome. The clinical phenotype of CAPS is characterized by systemic inflammation. General symptoms are fatigue and fever. Local manifestations affect multiple tissues such as skin, joints, muscles, eyes, and the central nervous system. Distinct clinical features are characteristic for each subphenotype. In FCAS, these are cold-induced urticaria and fever, in MWS systemic amyloidosis and hearing loss and in NOMID/CINCA central nervous system inflammation and bone deformities. CAPS is caused by single heterozygous germline or somatic gain of function mutations in the NLRP3 gene encoding the protein cryopyrin. Cryopyrin nucleates an NLRP3 inflammasome, which regulates the activation and cleavage of caspase-1 that cleaves the pro-inflammatory cytokines, IL-1? and IL-18. IL-1? plays the key role in the induction of inflammation in CAPS. This has been confirmed by the application of IL-1 blocking agents, which lead not only to a rapid and sustained reversal of daily symptoms but also to some extent of long-term disease sequelae. To prevent CAPS-induced organ damage, early diagnosis and swift initiation of effective treatment are mandatory. PMID:25963520

  18. Goldenhar syndrome.

    PubMed

    Sharma, Neeraj; Passi, Sidhi

    2013-01-01

    Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

  19. Period Cramps

    MedlinePLUS

    ... Games Kids' Medical Dictionary En Español What Other Kids Are Reading Girls and Puberty Boys and Puberty ... help push the blood out through a girl's vagina during her period . You probably know periods usually ...

  20. Bartter syndrome

    MedlinePLUS

    ... to reabsorb sodium. Persons affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body. This ...

  1. Marfan Syndrome

    MedlinePLUS

    ... Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A ... shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies ...

  2. Aicardi syndrome

    MedlinePLUS

    ... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  3. Sjögren's Syndrome

    MedlinePLUS

    ... effects of saliva, you may develop more dental decay (cavities) and mouth infections. Sjögren’s syndrome can also ... mouth makes you extremely prone to progressive dental decay (cavities). Water. Take sips of water or another ...

  4. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  5. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  6. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  7. Alagille Syndrome

    MedlinePLUS

    ... bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the ... syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of ...

  8. Ohtahara Syndrome

    MedlinePLUS

    ... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...

  9. Sotos Syndrome

    MedlinePLUS

    ... threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age ...

  10. Marfan Syndrome

    MedlinePLUS

    ... surgery. Some people may also choose to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  11. Menkes syndrome

    MedlinePLUS

    Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it. ... Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J- ...

  12. Hurler Syndrome

    MedlinePLUS

    ... the body how to work properly. In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block chemicals into smaller ones. When ...

  13. Down Syndrome

    MedlinePLUS

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

  14. Aortoduodenal syndrome.

    PubMed

    Takagi, H; Watanabe, T; Umemoto, T

    2015-10-01

    Duodenal obstruction caused by abdominal aortic aneurysm (AAA), i.e. "aortoduodenal syndrome," first described by Osler in 1905 is a rare clinical entity, with only several dozens of cases reported in the literature. In the present paper, we systematically searched literature and reviewed them. Databases including MEDLINE and EMBASE were searched from January 1981 to April 2014 using Web-based search engines (PubMed and OVID). Eighteen papers reported 21 cases with aortoduodenal syndrome. Mean age of patients was 74.5±8.4 years, 71.4% of patients were men, and mean AAA diameter was 7.2±2.1 cm. We also discussed confusion between aortoduodenal syndrome and "superior mesenteric artery syndrome" associated with AAA. PMID:25216355

  15. Sjogren's Syndrome

    MedlinePLUS

    ... and destroy the glands that produce tears and saliva. Sjögren's syndrome is also associated with rheumatic disorders ... increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, ...

  16. Hepatorenal syndrome.

    PubMed

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

    1997-01-01

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

  17. Isaac's Syndrome

    MedlinePLUS

    ... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

  18. Hyperventilation syndrome

    Microsoft Academic Search

    Richard E. Brashear

    1983-01-01

    The hyperventilation syndrome, primary alveolar hyperventilation and respiratory alkalosis accompanied by various signs and\\u000a symptoms, occurs in about 6–11% of the general patient population. The causes of hyperventilation are: 1) organic and physiologic\\u000a and, 2) psychogenic (emotional\\/habit). Hyperventilation syndrome excludes hyperventilation that is compensatory or caused\\u000a by organic or physiologic factors. Acute or chronic anxiety is usually considered the predominant

  19. Alagille syndrome.

    PubMed Central

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

  20. Tics and Tourette Syndrome

    MedlinePLUS

    MENU Return to Web version Tics and Tourette Syndrome Overview What is Tourette syndrome? Tourette syndrome is a type of tic disorder. Children who have Tourette syndrome will repeat both movements ...

  1. What Are Myelodysplastic Syndromes?

    MedlinePLUS

    ... How many people get myelodysplastic syndromes? What are myelodysplastic syndromes? Myelodysplastic syndromes (MDS) are conditions that occur when ... of blood vessels caused by cuts or bruises. Myelodysplastic syndromes In MDS, some of the cells in the ...

  2. Myelodysplastic Syndromes (MDS)

    MedlinePLUS

    ... syndromes (MDS) Email this page Print this page Myelodysplastic syndromes (MDS) Myelodysplastic syndromes (MDS) are a group of diseases that affect ... other types are severe and life-threatening. Tweet Myelodysplastic syndromes (MDS) Symptoms of MDS How transplant can treat ...

  3. Tethered Spinal Cord Syndrome

    MedlinePLUS

    NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  4. Down Syndrome (For Parents)

    MedlinePLUS

    About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  5. Carpal Tunnel Syndrome

    MedlinePLUS

    ... important to know the difference. What is carpal tunnel syndrome? Carpal tunnel syndrome is possibly the most ... permanent nerve and muscle damage. What causes carpal tunnel syndrome? Carpal tunnel syndrome may occur in patients ...

  6. Carpal Tunnel Syndrome

    MedlinePLUS

    NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Organizations Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition ...

  7. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  8. Stickler's syndrome associated with congenital glaucoma.

    PubMed

    Ziakas, N G; Ramsay, A S; Lynch, S A; Clarke, M P

    1998-03-01

    A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, and retinal detachment. Congenital glaucoma and Stickler's syndrome are two diagnoses frequently considered in high myopia in infancy. The case report described presents a case of Stickler's syndrome in association with congenital glaucoma. This association is unusual, but important to recognise in the neonatal period. The possibility of coexistence of these clinical entities, should be considered in the future. PMID:9587930

  9. A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

    PubMed

    Coll, Rebecca C; Robertson, Avril A B; Chae, Jae Jin; Higgins, Sarah C; Muñoz-Planillo, Raúl; Inserra, Marco C; Vetter, Irina; Dungan, Lara S; Monks, Brian G; Stutz, Andrea; Croker, Daniel E; Butler, Mark S; Haneklaus, Moritz; Sutton, Caroline E; Núñez, Gabriel; Latz, Eicke; Kastner, Daniel L; Mills, Kingston H G; Masters, Seth L; Schroder, Kate; Cooper, Matthew A; O'Neill, Luke A J

    2015-03-01

    The NOD-like receptor (NLR) family, pyrin domain-containing protein 3 (NLRP3) inflammasome is a component of the inflammatory process, and its aberrant activation is pathogenic in inherited disorders such as cryopyrin-associated periodic syndrome (CAPS) and complex diseases such as multiple sclerosis, type 2 diabetes, Alzheimer's disease and atherosclerosis. We describe the development of MCC950, a potent, selective, small-molecule inhibitor of NLRP3. MCC950 blocked canonical and noncanonical NLRP3 activation at nanomolar concentrations. MCC950 specifically inhibited activation of NLRP3 but not the AIM2, NLRC4 or NLRP1 inflammasomes. MCC950 reduced interleukin-1? (IL-1?) production in vivo and attenuated the severity of experimental autoimmune encephalomyelitis (EAE), a disease model of multiple sclerosis. Furthermore, MCC950 treatment rescued neonatal lethality in a mouse model of CAPS and was active in ex vivo samples from individuals with Muckle-Wells syndrome. MCC950 is thus a potential therapeutic for NLRP3-associated syndromes, including autoinflammatory and autoimmune diseases, and a tool for further study of the NLRP3 inflammasome in human health and disease. PMID:25686105

  10. Periodic Table

    NSDL National Science Digital Library

    Using the Macromedia Shockwave Player, this American Chemical Society website offers three interactive periodic tables. Students can find the basic data on each element including its atomic radius, stable isotopes, melting point, and density in the first periodic table tab. The website identifies different elemental groups by color. Users can view the electron configuration by selecting elements on the periodic table in the second tab. The last tab offers plots of the elements' electronegativity, ionization energy, and other properties.

  11. [POEMS syndrome].

    PubMed

    Rose, C; Mahieu, M; Hachulla, E; Facon, T; Hatron, P Y; Bauters, F; Devulder, B

    1997-07-01

    POEMS syndrome is an acronym defined by Bardwick (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal component and Skin changes). Other various clinical and biological features are reported: edema, cachexia, microangiopathic glomerulopathy, most rarely pulmonary hypertension, cutaneous necrosis. Thrombocytosis or polycythemia may be a prominent feature. POEMS syndrome is sometimes associated with lymphoproliferative disorder. Castelman-like disease is frequently observed as pathologic findings on lymph nodes. Distinction between POEMS syndrome and osteosclerotic myeloma is delicate. The rate of the monoclonal protein is modest-always less than 30 g/L-and is almost of the lambda light chain class. In contrast to multiple myeloma this syndrome is rarely associated with hypercalcemia, skeletal fracture, renal involvement and increasing of M component during evolution. Bone marrow plasmocytosis is usually less than 15% and the kinetic phenotype and genetic characteristics of the plasma cell remain those found in monoclonal gammopathy of undetermined significance. The pathophysiology of this syndrome remains largely unknown but overproduction of pro-inflammatory cytokines are reported, especially TNF alpha, IL-6 and IL-1 beta. Some clinical manifestations seem to be cytokine related. Polyneuropathy and cachexia are the main cause of death. A part corticosteroid and cure of solitary bone lesion, treatment is disappointing and survival is 60% at five years. PMID:9255373

  12. Irregular Periods

    MedlinePLUS

    ... Date reviewed: October 2013 Back 1 ? 2 For Teens For Kids For Parents MORE ON THIS TOPIC Gyn Checkups I'm 14 and I Don't Have My Period Yet. Is This Normal? Can a Girl Get Pregnant if She Has Sex During Her Period? Birth Control Pill Coping With ...

  13. [Kallmann syndrome].

    PubMed

    Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J

    2011-10-01

    The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848

  14. Prenatal Testing for Intellectual Disability: Misperceptions and Reality with Lessons from down Syndrome

    ERIC Educational Resources Information Center

    Acharya, Kruti

    2011-01-01

    Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be…

  15. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  16. Prognostic differences between routine invasive and conservative strategies for the management of high-risk, non-ST segment acute coronary syndromes: Experience from two consecutive periods in a single center

    Microsoft Academic Search

    Julio Núñez; Juan Sanchis; Eduardo Núñez; Vicent Bodi; Vicente Bertomeu-González; Maria J. Bosch; Enrique Santas; Lorenzo Fácila; Francisco J. Chorro; Cristina Gómez; Luciano Consuegra; Angel Llàcer

    2007-01-01

    BackgroundThe optimal revascularization strategy for non-ST elevation acute coronary syndromes (NSTE-ACS) remains controversial, especially in a real world context. The objective of this work was to assess differences at 1 year in all-cause mortality and the composite endpoint of mortality or acute myocardial infarction (MI) between two management strategies for NSTE-ACS: a conservative strategy (CS) versus a routine invasive strategy (RIS).

  17. Serotonin syndrome.

    PubMed

    Bodner, R A; Lynch, T; Lewis, L; Kahn, D

    1995-02-01

    We describe a patient treated with trazodone, isocarboxazid, and methylphenidate hydrochloride who developed confusion, agitation, poor concentration, rigidity, myoclonus, involuntary movements, orthostatic hypotension, and hyperreflexia. CK was normal, and the syndrome resolved spontaneously over 12 hours. The serotonin syndrome occurs following the use of serotomimetic agents (serotonin reuptake inhibitors, tricyclic and tetracyclic antidepressants, tryptophan, 3,4-methylenedioxy-methamphetamine, dextromethorphan, meperidine, S-adenosylmethionine) alone or in combination with monoamine oxidase inhibitors. It is characterized by various combinations of myoclonus, rigidity, hyperreflexia, shivering, confusion, agitation, restlessness, coma, autonomic instability, low-grade fever, nausea, diarrhea, diaphoresis, flushing, and rarely, rhabdomyolysis and death. PMID:7854515

  18. Prescribing patterns in premenstrual syndrome

    PubMed Central

    Wyatt, Katrina M; Dimmock, Paul W; Frischer, Martin; Jones, Paul W; O'Brien, Shaugn PM

    2002-01-01

    Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS) have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998) within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy. PMID:12086594

  19. Marfan Syndrome

    MedlinePLUS

    ... that determine whether you have blue eyes or brown or whether you look like your mom or your dad. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases. In most cases, the gene change for Marfan syndrome runs in families, getting passed down to children ...

  20. Hypereosinophilic syndromes

    Microsoft Academic Search

    Florence E Roufosse; Michel Goldman; Elie Cogan

    2007-01-01

    Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109\\/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to

  1. Aicardi Syndrome

    MedlinePLUS

    ... seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is ... callosum ) that links the two halves of the brain (2) infantile spasms (a ...

  2. Exfoliation Syndrome

    Microsoft Academic Search

    Robert Ritch; Ursula Schlötzer-Schrehardt

    2001-01-01

    Exfoliation syndrome (XFS) is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulates in many ocular tissues. Its ocular manifestations involve all of the structures of the anterior segment, as well as conjunctiva and orbital structures. Glaucoma occurs more commonly in eyes with XFS than in those without it; in fact, XFS has recently been recognized

  3. Wells syndrome

    PubMed Central

    Bansal, Manish; Rai, Tulika; Pandey, Shyam S.

    2012-01-01

    Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation. PMID:23189251

  4. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  5. Rud's syndrome.

    PubMed

    Pavani, K; Reddy, B S N; Singh, B Amar

    2014-04-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  6. Rud's syndrome

    PubMed Central

    Pavani, K.; Reddy, B. S. N.; Singh, B. Amar

    2014-01-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  7. Down syndrome in Kuwait.

    PubMed

    al-Awadi, S A; Farag, T I; Teebi, A S; Naguib, K K; Sundareshan, T S; Murthy, D S

    1990-01-01

    During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%. PMID:2149982

  8. Why Metabolic Syndrome Matters

    MedlinePLUS

    Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  9. Role of biologics in intractable urticaria.

    PubMed

    Cooke, Andrew; Bulkhi, Adeeb; Casale, Thomas B

    2015-01-01

    Chronic urticaria (CU) is a common condition faced by many clinicians. CU has been estimated to affect approximately 0.5%-1% of the population, with nearly 20% of sufferers remaining symptomatic 20 years after onset. Antihistamines are the first-line therapy for CU. Unfortunately, nearly half of these patients will fail this first-line therapy and require other medication, including immune response modifiers or biologics. Recent advances in our understanding of urticarial disorders have led to more targeted therapeutic options for CU and other urticarial diseases. The specific biologic agents most investigated for antihistamine-refractory CU are omalizumab, rituximab, and intravenous immunoglobulin (IVIG). Of these, the anti-IgE monoclonal antibody omalizumab is the best studied, and has recently been approved for the management of CU. Other agents, such as interleukin-1 inhibitors, have proved beneficial for Schnitzler syndrome and cryopyrin-associated periodic syndromes (CAPS), diseases associated with urticaria. This review summarizes the relevant data regarding the efficacy of biologics in antihistamine-refractory CU. PMID:25926715

  10. Syndrome in question. MAGIC syndrome.

    PubMed

    Nascimento, Ana Cláudia Mendes do; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  11. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  12. Electrochemical Periodicities

    Microsoft Academic Search

    J. A. V. Butler; G. Armstrong

    1932-01-01

    IN the course of experiments on the anodic polarisation of platinum electrodes in dilute sulphuric acid solutions saturated with hydrogen, we have observed, at small current densities, some striking periodicities. The change of potential difference with time in a typical experiment is shown in Fig. 1. In this case the electrode potential falls continuously with a marked break at EH

  13. Salivary Cortisol Profiles in Chronic Fatigue Syndrome

    Microsoft Academic Search

    Barbara Wood; Simon Wessely; Andrew Papadopoulos; Lucia Poon; Stuart Checkley

    1998-01-01

    Salivary cortisol profiles (hourly sampling over a 16-hour period) of 10 patients with chronic fatigue syndrome (CFS) but without concurrent depressive disorder were compared with those of 10 healthy volunteers matched for age, sex and menstrual cycle. The mean saliva cortisol concentration over the 16-hour period was slightly but significantly greater in the patients than the controls (p < 0.05).

  14. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

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

  15. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  16. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... help their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French ... people with TS. Back Continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a ...

  17. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  18. Dental Issues & Down Syndrome

    MedlinePLUS

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  19. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  20. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  1. What Is Marfan Syndrome?

    MedlinePLUS

    ... Syndrome PDF Version Size: 62 KB Audio Version Time: 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to-Read Series of Publications for the Public Marfan syndrome is ...

  2. Polycystic Ovary Syndrome

    MedlinePLUS

    ... Another condition that is associated with PCOS is metabolic syndrome . This syndrome contributes to both diabetes and heart ... the levels of glucose (sugar) in the blood. Metabolic Syndrome: Combination of factors that contribute to both diabetes ...

  3. Metabolic Syndrome (For Parents)

    MedlinePLUS

    ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ... chemicals in the body fail to interact properly), metabolic syndrome describes a cluster of risk factors that put ...

  4. Fragile X Syndrome

    MedlinePLUS

    ... Was Just Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  5. Fragile X Syndrome Overview

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Fragile X syndrome? Fragile X syndrome is a genetic disorder that ...

  6. Carpal Tunnel Syndrome

    MedlinePLUS

    ... key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median ... or traumatized. What are the symptoms of carpal tunnel syndrome? Symptoms usually start gradually, with frequent burning, ...

  7. Kallmann syndrome

    Microsoft Academic Search

    Catherine Dodé; Jean-Pierre Hardelin; J-P Hardelin

    2009-01-01

    The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations

  8. Hepatorenal syndrome.

    PubMed

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

    2007-08-14

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

  9. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  10. Antisynthetase syndrome

    Microsoft Academic Search

    Agathe Imbert-Masseau; Mohamed Hamidou; Christian Agard; Jean-Yves Grolleau; Pascal Chérin

    2003-01-01

    Seven autoantibodies directed against synthetases have been identified to date, the best known being anti-Jo1. Synthetases play a vital role in protein synthesis by catalyzing the acetylation of transfer RNAs (tRNAs). The most common form of antisynthetase syndrome is characterized by anti-Jo1 production, interstitial lung disease (ILD), inflammatory muscle disease, and, in many cases, fever, polyarthritis, Raynaud’s phenomenon, and thick

  11. Masquerade Syndromes

    Microsoft Academic Search

    Shouvik Saha; Elizabeth M. Graham

    The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

  12. Maffucci Syndrome

    Microsoft Academic Search

    Leida B. Rozeman; Yvonne M. Schrage; Judith V. M. G. Bovée; Pancras C. W. Hogendoorn

    Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with\\u000a multiple haemangiomas and\\/or lymphangiomas, as described by (1881). Both lesions tend to have an unilateral predominance (Albregts and Rapini 1995). Enchondromas are benign cartilaginous neoplasms and occur mainly in the tubular bones of hands and feet. Their presence\\u000a in long bones can result in

  13. Learning about Fragile X Syndrome

    MedlinePLUS

    ... genetic terms used on this page. Learning About Fragile X Syndrome What is fragile X syndrome? What are the ... Additional Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form ...

  14. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  15. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  16. Heterotaxy Syndrome

    PubMed Central

    2011-01-01

    Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Treatment of patients with isomerism is determined by the nature and severity of the associated cardiac and extracardiac lesions. Most cardiac operations for patients with isomerism are palliative in nature, since normal anatomy is rarely achieved and mortality rates remain high for patients with heterotaxy syndrome. Patients with left isomerism in general have less severe cardiac malformations than those with right isomerism and, hence, more chance of biventricular repair. For almost all patients with right isomerism, and for many with left isomerism, biventricular repair will not be feasible, and all palliative protocols are then staging procedures prior to a Fontan-type repair. Recent advances in medical management, and improvements in surgical techniques have resulted in improved survival for these patients, and the surgical outcomes are comparable to those with Fontan circulation irrespective of the presence or absence of heterotaxy. PMID:21731561

  17. Periodic Monopoles

    E-print Network

    R. S. Ward

    2005-12-28

    This paper deals with static BPS monopoles in three dimensions which are periodic either in one direction (monopole chains) or two directions (monopole sheets). The Nahm construction of the simplest monopole chain is implemented numerically, and the resulting family of solutions described. For monopole sheets, the Nahm transform in the U(1) case is computed explicitly, and this leads to a description of the SU(2) monopole sheet which arises as a deformation of the embedded U(1) solution.

  18. Placental pathology in fetal bartter syndrome.

    PubMed

    Ernst, Linda M; Parkash, Vinita

    2002-01-01

    Bartter syndrome, which presents clinically with polyuria, urinary potassium loss, hypokalemia, hypercalciuria, and alkalosis, is an autosomal recessive disorder with mutations in genes encoding the Na-K-2Cl cotransporter, the chloride channel CLC-NKB, and the potassium channel ROMK. Prenatal diagnosis of Bartter syndrome is now possible; however, there are no reports of the placental pathology associated with fetal Bartter syndrome. We present the placental pathologic findings in two siblings with fetal Bartter syndrome. Both pregnancies were complicated by polyhydramnios and preterm delivery. The first pregnancy delivered at 30 weeks, and Bartter syndrome was diagnosed in the perinatal period. The subsequent pregnancy required periodic therapeutic amniocentesis secondary to massive polyhydramnios and delivered at 32 weeks gestation. The suspicion of fetal Bartter syndrome was very high in this second pregnancy, and the infant was confirmed to have Bartter syndrome subsequently. Both placentas were large for gestational age, weighing greater than the 95th percentile. Microscopic examination showed extensive subtrophoblastic basement membrane mineralization (special stains positive for iron and calcium) in the chorionic villi. This striking finding was present in both placentas. Subtrophoblastic mineralization has been described in the literature in placentas of fetuses with abnormalities including anencephaly, trisomy 21, and other congenital abnormalities; however, it has also been described in normal pregnancies. Mechanisms of calcification in the placenta are not well understood, but these striking cases suggest that defects in fetal renal excretion of ions can lead to dystrophic calcification within the placenta, particularly in a subtrophoblastic pattern. PMID:11815871

  19. Behçet's syndrome.

    PubMed

    Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan

    2013-05-01

    Behçet's syndrome (BS) shows a peculiar distribution, with a much higher prevalence in countries along the ancient Silk Road compared with rest of the world. BS also seems to follow a more severe course in ethnic groups with higher prevalence. Diagnosis depends on clinical findings. Criteria sets may not help in patients with less frequent types of involvement. Management strategies should be modified according to the age and sex of the patient and the organs involved. Being a serious health problem in endemic areas, BS also attracts global attention as a model to study inflammatory diseases of unknown cause. PMID:23597962

  20. Fragile X syndrome

    MedlinePLUS

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... to affect them more severely. You can have fragile X syndrome even if your parents do not have it. ...

  1. Restless Legs Syndrome

    MedlinePLUS

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

  2. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  3. [The shaken baby syndrome].

    PubMed

    Aguilar Serrano, Alicia; Reyes Morillas, María; Ráez Liébanas, Andrés; Ruiz Rodríguez, Concepción

    2006-11-01

    The shaken baby syndrome is caused by a violent jerk or shaking of a child's or infant's head; on some occasions this syndrome is defined as a form of child abuse. This relatively unknown syndrome can produce multiple lesions in the victim; these lesions are not evident externally in the majority of cases. The authors have reviewed numerous articles so that they can define this syndrome's basic characteristics which bear much weight in the early detection of this syndrome and moreover on adequate prevention of this syndrome by health professionals since this syndrome may cause grave and permanent repercussions in the child which undergoes it. PMID:17201333

  4. Kleine-levin syndrome treated with clarithromycin.

    PubMed

    Rezvanian, Elham; Watson, Nathaniel F

    2013-01-01

    Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by periodic hypersomnia and various degrees of cognitive and behavioral disturbance, hyperphagia, and hypersexuality. Effective treatment is challenging. Stimulants marginally address sleepiness, but may increase irritability and do not improve cognitive and behavioral disturbances. Modafinil may shorten the symptomatic period but not the recurrence rate. Lithium and carbamazepine are beneficial in some cases, possibly related to similarities between KLS and affective disorders. Currently, no single medication is consistently successful in treating the syndrome. Here we report the short-term effect of clarithromycin in a patient with KLS. PMID:24235906

  5. Fifteen-Year Follow-Up of Thyroid Status in Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Prasher, V.; Ninan, S.; Haque, S.

    2011-01-01

    Background: The natural history of thyroid function in adults with Down syndrome is relatively unknown with limited long-term follow-up data. Method: This study investigated annual thyroid function tests in 200 adults with Down syndrome over a 15-year period. Results: For healthy adults with Down syndrome there is a gradual increase in thyroxine…

  6. Burning mouth syndrome

    PubMed Central

    2008-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18-33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to February 2007 (BMJ Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 12 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:19450321

  7. Burning mouth syndrome

    PubMed Central

    2010-01-01

    Introduction Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18% to 33%. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to November 2009 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 15 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMID:21418666

  8. Chronic fatigue syndrome

    PubMed Central

    2011-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2010 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:21615974

  9. Chronic fatigue syndrome

    PubMed Central

    2008-01-01

    Introduction Chronic fatigue syndrome (CFS) affects between 0.006% and 3% of the population depending on the criteria of definition used, with women being at higher risk than men. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for chronic fatigue syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to September 2007 (BMJ Clinical evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 45 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: antidepressants, cognitive behavioural therapy (CBT), corticosteroids, dietary supplements, evening primrose oil, galantamine, graded exercise therapy, homeopathy, immunotherapy, intramuscular magnesium, oral nicotinamide adenine dinucleotide, and prolonged rest. PMID:19445810

  10. The hereditary autoinflammatory disorders uncovered.

    PubMed

    Rigante, Donato; Vitale, Antonio; Lucherini, Orso Maria; Cantarini, Luca

    2014-09-01

    There is a thriving interest in the field of hereditary autoinflammatory disorders (HAID), a gamut of heterogeneous conditions deriving from an aberrant orchestration of innate immunity, unified by the common feature of seemingly unprovoked inflammation, which might be systemic or occur in localized niches of the organism. Recurrent fever and episodic inflammation in the joints, serosal membranes, skin, gut, and other organs are the common denominator of HAID. Mutations in the inflammasome-related genes have been associated with different HAID, showing the intimate link existing between interleukin-1 (IL-1)-structured inflammasome and their pathogenesis. Differential diagnosis of HAID can be challenging, as there are no universally accepted diagnostic protocols, and near half of patients may remain without any genetic abnormality identified. The use of IL-1-antagonists has been associated with beneficial effects in a large number of HAID associated with excessive IL-1 signalling, such as cryopyrin-associated periodic syndromes, familial Mediterranean fever, and deficiency of IL-1 receptor antagonist. This review will discuss about the key-clues of HAID which might guide for an early recognition and drive decisions for treatment. PMID:25149390

  11. Anxiety in Asperger's syndrome: Assessment in real time.

    PubMed

    Hare, Dougal J; Wood, Christopher; Wastell, Sarah; Skirrow, Paul

    2015-07-01

    Anxiety is a major problem for many people with Asperger's syndrome who may have qualitatively different fears from a non-Asperger's syndrome population. Research has relied on measures developed for non-Asperger's syndrome populations that require reporting past experiences of anxiety, which may confound assessment in people with Asperger's syndrome due to problems with autobiographical memory as are often reported in this group.Experience sampling methodology was used to record real-time everyday experiences in 20 adults with Asperger's syndrome and 20 neurotypical adults. Within-subject analysis was used to explore the phenomenology of thoughts occurring in people with Asperger's syndrome when they were anxious. Comparisons were made with the group that did not have Asperger's syndrome. The Asperger's syndrome group were significantly more anxious than the comparison group. Factors associated with feelings of anxiety in the Asperger's syndrome group were high levels of self-focus, worries about everyday events and periods of rumination lasting over 10 min. People in the Asperger's syndrome group also had a tendency to think in the image form, but this was not associated with feelings of anxiety. The results are discussed with reference to psychological models of Asperger's syndrome, cognitive models of anxiety and implications for psychological therapy for this group. PMID:24811968

  12. Hepatopulmonary Syndrome.

    PubMed

    Lv, Yong; Fan, Daiming

    2015-07-01

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

  13. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  14. Goldenhar syndrome.

    PubMed

    Hossain, M M; Akhonda, A H; Islam, M F; Akonjee, A R

    2012-07-01

    A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex is central, steady and maintained. On examination whitish growth on limbus, hard in consistency, non mobile, non tender, fixed with underlying structure both eyes. There are pre auricular skin tags. There is no cardiac abnormality and ENT consultation done reveals normal except pre-auricular ear tags. X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome. PMID:22828557

  15. [Marfan syndrome].

    PubMed

    Jondeau, Guillaume; Delorme, Gabriel; Guiti, Chabnam

    2002-05-15

    Marfan syndrome is a genetic illness, generally linked to an anomaly in fibrillin type 1, which is transmitted in an autosomally dominant fashion. Its diagnosis is sometimes difficult and should always be evoked in the face of a non-atheromatous aneurysm of the ascending aorta, lead to family screening in the search for aneurysms in any relatives, and an ophthalmological and rheumatological examination in the search for extracardiac signs. The diagnosis made, the dilatation of the aorta can be limited by proscribing violent sports and prescribing beta-blockers. The diameter of the ascending aorta should be measured with an annual ultrasound in order to propose a surgical replacement of the ascending aorta, before a complication (above all aortic dissection) arises. PMID:12107930

  16. Fragile X Syndrome What is fragile X syndrome?

    E-print Network

    Bordenstein, Seth

    Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common inherited, it becomes inactive and does not make the protein. This lack of protein results in fragile X syndrome. Some fragile X syndrome. What are the effects of fragile X syndrome? Identifiable physical characteristics

  17. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome

    PubMed Central

    McLeod, Michael; Torchia, Daniele; Romanelli, Paolo

    2013-01-01

    Drug rash with eosinophilia and systemic symptoms syndrome is a severe idiosyncratic drug reaction with a long latency period. It has been described using many terms; however, drug rash with eosinophilia and systemic symptoms syndrome appears to be the most appropriate. This syndrome causes a diverse array of clinical symptoms, anywhere from 2 to 8 weeks after initiating the offending drug. Standardized criteria for the diagnosis have been developed; however, their utility remains to be validated. Unfortunately, the management of drug rash with eosinophilia and systemic symptoms syndrome is not well supported by strong evidence-based data. PMID:23882307

  18. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  19. Schimmelpenning syndrome.

    PubMed

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Ventura, Filipa; Brito, Celeste

    2013-10-01

    Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions. PMID:24139367

  20. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  1. Landau-Kleffner Syndrome

    MedlinePLUS

    ... Syndrome? Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and ...

  2. Down Syndrome: Education

    MedlinePLUS

    ... Mission & Vision NDSS History Our Team Media Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and secondary schooling, and college and postsecondary options for students with Down syndrome. Education & Down Syndrome ...

  3. Alport Syndrome Foundation

    MedlinePLUS

    ... I really did not worry much about it. John‘s Story John was diagnosed with Alport Syndrome when he was ... typical with many families affected by Alport Syndrome, John is not the only family member with the ...

  4. Yellow nail syndrome (image)

    MedlinePLUS

    Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...

  5. Proteus Syndrome Foundation

    MedlinePLUS

    Welcome 11/12/2014 LAUNCH: Proteus Foundation Patient Contact Registry. READ MORE. Proteus Syndrome Foundation The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the ...

  6. The SAPHO syndrome.

    PubMed

    Vohradníková, O; Záruba, F; Polásková, S; Hoza, J; Leiská, A

    1993-06-01

    We report two cases of the SAPHO syndrome (synovitis, acne conglobata, pustulosis palmoplantaris, hyperostosis and osteitis). This syndrome has been published in the pediatric and rheumatological literature in recent years. PMID:8105621

  7. Lennox-Gastaut Syndrome

    MedlinePLUS

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  8. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  9. Riley-Day syndrome

    MedlinePLUS

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  10. Obesity Hypoventilation Syndrome

    MedlinePLUS

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  11. Cardiopulmonary Syndromes (PDQ®)

    Cancer.gov

    Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.

  12. Immune Reconstitution Syndrome

    MedlinePLUS

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

  13. Adult fragile X syndrome

    Microsoft Academic Search

    R. D. Rudelli; W. T. Brown; K. Wisniewski; E. C. Jenkins; M. Laure-Kamionowska; F. Connell; H. M. Wisniewski

    1985-01-01

    Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported.

  14. Prader-Willi syndrome

    MedlinePLUS

    Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most persons with Prader-Willi syndrome are missing the genetic material on part ...

  15. Dubin-Johnson syndrome

    MedlinePLUS

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  16. Carpal tunnel syndrome

    MedlinePLUS

    Carpal tunnel syndrome is a condition in which there is excessive pressure on the median nerve. This is the ... and movement to parts of the hand. Carpal tunnel syndrome can lead to numbness, tingling, weakness, or ...

  17. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

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

  18. Autoimmune Lymphoproliferative Syndrome (ALPS)

    MedlinePLUS

    ... Syndrome (ALPS) Top Banner Content Area Skip Content Marketing Share this: Main Content Area Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of ...

  19. Dummies and the sudden infant death syndrome

    Microsoft Academic Search

    E A Mitchell; B J Taylor; R P Ford; A W Stewart; D M Becroft; J M Thompson; R Scragg; I B Hassall; D M Barry; E M Allen

    1993-01-01

    The association between dummy use and sudden infant death syndrome (SIDS) was investigated in 485 deaths due to SIDS in the postneonatal age group and compared with 1800 control infants. Parental interviews were completed in 87% of subjects. The prevalence of dummy use in New Zealand is low and varies within New Zealand. Dummy use in the two week period

  20. Myth vs. Fact: Wilson's Temperature Syndrome

    MedlinePLUS

    ... health/wilsons-syndrome/AN01728. what is dr. wilsOn’s theOry? During periods of stress or illness, more T4 ... person is slowly taken off WT3 and, the theory goes, normal production of T3 starts up again. ...

  1. Brown-Sequard Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Brown-Sequard Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Brown-Sequard Syndrome? Brown-Sequard syndrome (BSS) is a rare neurological ...

  2. Families and Fragile Syndrome

    E-print Network

    Rau, Don C.

    Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency is designed to give you and your family some general information about Fragile X syndrome, its causes, its or actors. They are individuals with Fragile X syndrome and their families. Through these images, you'll see

  3. Restless Legs Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong ... treatments. Rate This Content: NEXT >> November 1, 2010 Restless Legs Syndrome Clinical Trials Clinical trials are research studies that ...

  4. A Longitudinal Study of Narrative Development in Children and Adolescents with Down Syndrome

    ERIC Educational Resources Information Center

    Cleave, Patricia; Bird, Elizabeth Kay-Raining; Czutrin, Rachael; Smith, Lindsey

    2012-01-01

    The present study examined narrative development in children and adolescents with Down syndrome longitudinally. Narratives were collected from 32 children and adolescents with Down syndrome three times over a 1-year period. Both micro- and macrolevel analyses were conducted. Significant growth over the 1-year period was seen in semantic complexity…

  5. The lax eyelid syndrome.

    PubMed Central

    van den Bosch, W A; Lemij, H G

    1994-01-01

    The floppy eyelid syndrome (FES) was first described in middle aged, obese men. In later descriptions, age and sex were not specifically mentioned. Associations of FES with various other syndromes have been described. The authors question whether all these cases represent the same, single, syndrome. They suggest that a clinical picture similar to FES may occur in lax upper eyelids of any cause. Four such cases are reported here. The authors therefore coin the more general term 'lax eyelid syndrome'. They suggest using the term 'floppy eyelid syndrome' uniquely for patients with the classic signs and symptoms. Images PMID:7947544

  6. Cyclic vomiting syndrome plus.

    PubMed

    Boles, Richard G; Powers, Amy L R; Adams, Kathleen

    2006-03-01

    Cyclic vomiting syndrome, which is characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately childhood condition. Approximately 25% of cases have coexisting neuromuscular disease manifestations (cyclic vomiting syndrome plus). To determine whether patients with cyclic vomiting syndrome and neuromuscular disease represent a distinct subentity within cyclic vomiting syndrome, a clinical interview was conducted regarding 80 randomly ascertained sufferers of cyclic vomiting syndrome from a disease association database. Cyclic vomiting syndrome plus and "cyclic vomiting syndrome minus," herein defined as the presence of at least two and zero neuromuscular disease manifestations, were present in 23 and 44 subjects, respectively. Neuromuscular disease manifestations, including cognitive disorders, skeletal myopathy, cranial nerve dysfunction, and seizure disorders, were found to statistically cluster together among the same subjects. In addition, subjects with cyclic vomiting syndrome with neuromuscular disease had an earlier age at onset for vomiting episodes and a three- to eightfold statistically increased prevalence for certain dysautonomia-related (migraine, chronic fatigue, neurovascular dystrophy) and constitutional (growth retardation and birth defects) disorders. However, subjects with cyclic vomiting syndrome with and without neuromuscular disease were equally likely to have a sibling affected with neuromuscular disease manifestations. We conclude that cyclic vomiting syndrome plus, although likely not genetically distinct from cyclic vomiting syndrome minus, represents a distinct phenotypic entity that predicts an earlier onset of disease and increased comorbidity with a distinct list of medical conditions, possibly owing to a higher degree of mitochondrial dysfunction. PMID:16901417

  7. Behcet's Syndrome.

    PubMed

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-01

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).? inhibitors, among others. In this article, we review the salient clinical studies for each drug class along with important side effects as well as drug toxicity monitoring. Management of the patient with BS is complex and oftentimes requires a multidisciplinary approach. We discuss strategies to assess and stratify patients based on clinical manifestations and disease severity. A summary of drug toxicities as they relate to the aforementioned pharmacological agents, as well as guidelines regarding vaccinations in this patient population, are offered. Finally, we conclude with treatment strategies for the common manifestations of BS along with a discussion of the management of thrombotic disease in these patients. PMID:23153327

  8. Hypernatremia in hyperosmolar hyperglycemic syndrome.

    PubMed

    Blas-Macedo, Jorge; Blas-Soto, Viridiana

    2011-01-01

    We report the case of a 82 year-old woman with hyperosmolar hyperglycemic state (HHS) associated with hypernatremia, who was treated using 0.2 % sodium chloride in 5 % dextrose in water which resulted in the amelioration of the neurological symptoms in a short period of time, followed the decrease in serum glucose and the serum sodium, consequently the serum osmolality. We discuss the advantages and usefulness of 0.2 % sodium chloride in 5 % dextrose in water in this syndrome and emphasize its importance in the treatment. We reviewed the literature on HHS and we assume that this case reported was treated with hypotomic solution without subsequent neurological damage. PMID:21839004

  9. Hospitalizations of Infants and Young Children with Down Syndrome: Evidence from Inpatient Person-Records from a Statewide Administrative Database

    ERIC Educational Resources Information Center

    So, S. A.; Urbano, R. C.; Hodapp, R. M.

    2007-01-01

    Background: Although individuals with Down syndrome are increasingly living into the adult years, infants and young children with the syndrome continue to be at increased risk for health problems. Using linked, statewide administrative hospital discharge records of all infants with Down syndrome born over a 3-year period, this study "follows…

  10. Gitelman's syndrome first diagnosed as Bartter's syndrome.

    PubMed

    Tsuchiya, H; Kamoi, K; Soda, S; Sasaki, H; Kobayashi, K; Hayashi, M

    2001-10-01

    A 29-year-old man, who had been treated with potassium, spironolactone and indomethacin for over 9 years, was admitted because of nausea, vomiting, diarrhea and tetany manifestation. At the age of 20, he had been diagnosed as having Bartter's syndrome according to the criteria of the Japanese Ministry of Health and Welfare. Findings on admission were hypokalemia, hypomagnesemia and hypocalciuria. Renal distal fractional reabsorption rates of sodium, chloride and calcium were markedly decreased by administration of furosemide but there was no obvious change with administration of thiazide. These findings indicate that the patient had Gitelman's syndrome rather than Bartter's syndrome. PMID:11688824

  11. [Tic syndrome].

    PubMed

    Czapli?ski, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to streptococcal infection in the pathogenesis of tics. The differential diagnosis of tics is reviewed in detail. Above all tics represent a social disability. The ability to tolerate tics varies greatly from one individual to another, and the need for treatment is better defined by the patient than by the physician. Mild cases do not need be treated. Ideally, management should be multidisciplinary and can range from educative to supportive means or to intricate pharmacological interventions. The major form of treatment of the motor or vocal symptoms continues to be based on high-potency "typical" neuroleptics (tiaprid, pimozide, haloperidol), which induce a wide range of potentially serious side effects. In everyday practice we prefer to start with an "atypical" neuroleptic drug--for example, olanzapin (5-10 mg/day), risperidone or clozapine. Other drugs, such as clonidin or pergolid are widely used but their efficiency is still questionable. SSRIs (sertaline, citalopram, fluoxetin, fluvoxamine) or other antidepressants (clomipramine) have been used in treatment of psychiatric comorbid conditions, too. Botulinum toxin injections have proved useful in tics, targeting at the symptoms of blepharospasm, in neck and facial muscles. PMID:12185806

  12. Angelman Syndrome What is Angelman syndrome?

    E-print Network

    Palmeri, Thomas

    syndrome also will show signs of autism spectrum disorder. Outbursts to be a constant state, and social smiling may be prevalent. Many individuals are very with autism spectrum disorders face, so membership in a local chapter of The Arc

  13. West syndrome associated with mosaic Down syndrome.

    PubMed

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

    2007-08-01

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

  14. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    Microsoft Academic Search

    Lorenzo Lo Muzio

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1\\/57,000 to 1\\/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and

  15. Hamartomatous polyposis syndromes

    PubMed Central

    2013-01-01

    Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation. PMID:23724922

  16. Prenatal testing for intellectual disability: misperceptions and reality with lessons from Down syndrome.

    PubMed

    Acharya, Kruti

    2011-01-01

    Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be some advantage in having Down syndrome. To help parents make informed decisions about screening and testing, it is crucial to reconcile divergent prenatal and postnatal perspectives. Advancements in genetic technologies will also impact the informed consent process and need to be considered. PMID:22447752

  17. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome

    Microsoft Academic Search

    Maria Antonietta Mencarelli; Tjitske Kleefstra; Eleni Katzaki; Filomena Tiziana Papa; Monika Cohen; Rolph Pfundt; Francesca Ariani; Ilaria Meloni; Francesca Mari; Alessandra Renieri

    2009-01-01

    Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression.

  18. Sheehan syndrome with reversible dilated cardiomyopathy

    PubMed Central

    Laway, Bashir A.; Alai, Mohammad S.; Gojwari, Tariq; Ganie, Mohd A.; Zargar, Abdul H

    2010-01-01

    Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome. PMID:20622352

  19. Sheehan syndrome with reversible dilated cardiomyopathy.

    PubMed

    Laway, Bashir A; Alai, Mohammad S; Gojwari, Tariq; Ganie, Mohd A; Zargar, Abdul Hamid

    2010-01-01

    Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome. PMID:20622352

  20. Inherited Bone Marrow Failure Syndromes

    MedlinePLUS

    What are the IBMFS disorders? Amegakaryocytic Thrombocytopenia Diamond-Blackfan Anemia Dyskeratosis Congenita Fanconi Anemia Pearson Syndrome Severe Congenital Neutropenia Shwachman-Diamond Syndrome Thrombocytopenia Absent Radii Other Bone Marrow Failure Syndromes Amegakaryocytic ...

  1. Genetics Home Reference: Tourette syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Tourette syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed May 2013 What is Tourette syndrome? Tourette syndrome is a complex disorder characterized ...

  2. Gilles de la Tourette syndrome

    MedlinePLUS

    Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. It ... norepinephrine) that help nerve cells signal one another. Tourette syndrome can be either severe or mild. Many ...

  3. Genetics Home Reference: Arts syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Arts syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed September 2014 What is Arts syndrome? Arts syndrome is a disorder that causes ...

  4. Genetics Home Reference: Wagner syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Wagner syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed July 2014 What is Wagner syndrome? Wagner syndrome is a hereditary disorder that ...

  5. Toxic Shock Syndrome (For Parents)

    MedlinePLUS

    ... Sports: Keeping Kids Safe Concussions: What to Know Toxic Shock Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > ... and Treatment When to Call the Doctor About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a ...

  6. Genetics Home Reference: Moebius syndrome

    MedlinePLUS

    ... people use for Moebius syndrome? congenital facial diplegia congenital ophthalmoplegia and facial paresis Möbius sequence Mobius syndrome Moebius ... with understanding Moebius syndrome? autism ; brainstem ; cleft palate ; congenital ; cranial nerves ; ... palate ; pattern of inheritance ; risk factors ; spectrum ; sporadic ; ...

  7. Genetics Home Reference: Job syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Job syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed February 2008 What is Job syndrome? Job syndrome is a condition that affects ...

  8. Genetics Home Reference: Crouzon syndrome

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Crouzon syndrome On this page: Description ... What is Crouzon syndrome? Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull ...

  9. Thoracic outlet syndromes

    Microsoft Academic Search

    Harold C. Urschel; Amit Patel

    2003-01-01

    Opinion statement  The clinical presentation of thoracic outlet syndrome depends on which anatomic structure is compressed in the area of the\\u000a thoracic outlet (eg, the axillary-subclavian artery, vein [Paget-Schroetter syndrome, or effort thrombosis], brachial plexus,\\u000a or the sympathetic nerves). The clinical syndrome may be isolated to one or a mixture of these compressed anatomic structures.\\u000a Although there are multiple compressive forces,

  10. [Paraneoplastic syndromes: a review].

    PubMed

    Berardi, R; Grilli, G; Romagnoli, E; Saladino, T; Freddari, F; Tamburrano, T; Galizia, E; Carbonari, G; Mariani, C; Braconi, C; Pierantoni, C; Battelli, N; Scartozzi, M; Cascinu, S

    2005-01-01

    Modern oncology often obtains good results against earlier neoplasms, whilst it's still in difficulties against the advanced ones. The knowledge of paraneoplastic syndromes is crucial both to cure patients and to do an earlier diagnosis. When we recognize a paraneoplastic syndrome that comes before the clinic beginning of a neoplasm, perhaps we save a life. This review discusses all the main paraneoplastic syndromes, focusing mainly on their clinical aspect and reminding the most commonly associated cancers. PMID:16463565

  11. Sturge–Weber syndrome

    Microsoft Academic Search

    C. Di Rocco; G. Tamburrini

    2006-01-01

    Introduction  Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75–90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that

  12. Capgras' syndrome with organic disorders.

    PubMed Central

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  13. Chromosome instability syndromes

    SciTech Connect

    NONE

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  14. Brown-Vialetto-Van Laere syndrome

    PubMed Central

    Sathasivam, Sivakumar

    2008-01-01

    The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases), gradual deterioration with stable periods in between (a third of cases) and deterioration with abrupt periods of worsening (just under a fifth of cases). After the initial presentation, one third of patients survive for ten years or longer. PMID:18416855

  15. Neuroimaging and clinical characterization of Sotos syndrome.

    PubMed

    Türkmen, S; ?ahin, S; Koçer, N; Peters, H; Mundlos, S; Tüysüz, B

    2015-01-01

    Sotos syndrome is a well-known overgrowth syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. This disorder is caused by mutations or deletions in NSD1 gene. The aim of this study is to examine the relationship between the neuroimaging and clinical features of children with Sotos syndrome. Six Turkish children with Sotos syndrome were followed up about 3-7 years. The diagnosis was confirmed with molecular genetic analysis. We identified the pathogenic NSD1 mutation including three novel in all patients. All the patients had a characteristic facial gestalt of Sotos syndrome consisting of triangular face with prominent forehead, frontoparietal sparseness of hair and small nose. However, the degree of psychomotor and intellectual development was variable. Severe learning defect and speech delay were remarkable in two patients. The neuroimaging analysis showed abnormalities in four of six patients including bilateral large ventricles, thinning of the corpus callosum and persistent cavum septum pellucidum et vergae. Typical craniofacial appearance is the primary finding for the diagnosis of the disease even in the infantile period. However, the degree of psychomotor and intellectual development is very variable and does not correlate with the neuroimaging findings. PMID:26043501

  16. Hospitalization of Children with Down Syndrome

    PubMed Central

    Tenenbaum, Ariel; Hanna, Rana N.; Averbuch, Diana; Wexler, Isaiah D.; Chavkin, Maor; Merrick, Joav

    2014-01-01

    Introduction: Children with Down syndrome present with multiple medical problems in a higher prevalence compared with the general population, which may lead to hospitalizations. Methods: Analysis of 560 hospitalizations of 162 children aged 0–16?years with Down syndrome at Hadassah Medical Center during the years 1988–2007 compared with data on children in the general population, hospitalized at the same period. Data was collected from patient files and statistical data from the Ministry of Health. Results: Respiratory infections were the leading cause for hospitalization of children with Down syndrome. The number of hospitalizations of children with Down syndrome compared to the number of all children, who were hospitalized was surprisingly similar to their proportion in the general population. Eleven children died during their hospitalization (five heart failure, three sepsis, one respiratory tract infection, and one due to complication after surgery). Nine of the 11 had a congenital heart anomaly. Conclusion: Children with Down syndrome can present with complex medical issues and we support the concept of a multidisciplinary team that has experience and knowledge to serve as a “one stop shop” for these individuals and their families, with timely visits in which a comprehensive evaluation is performed, problems attended to and prevention plans applied. In this way, we may prevent morbidity, hospitalizations, and mortality. PMID:24688981

  17. An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.

    PubMed

    Dzenis, I G; Antipina, N N

    1979-01-01

    Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed. PMID:535888

  18. An uncommon phenotypical variant in the Shereshevsky-Turner syndrome

    Microsoft Academic Search

    I. G. Dzenis; N. N. Antipina

    1979-01-01

    Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X\\/46,XX\\/47,XXX; 45,X\\/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed.

  19. [Post-polio syndrome. Part II. Therapeutic management].

    PubMed

    Matyja, Ewa

    2012-01-01

    The care of patients with post-polio syndrome ought to be carried out by a multidisciplinary team of specialists, including medical professionals, specialists of rehabilitation, psychologists and social workers. Many therapeutic strategies might be employed to reduce the late effects of polio. Today, the management of post-polio syndrome is based on non-pharmacological intervention, including lifestyle modification, decrease of physical activity, rest periods during the day and an individually tailored training program. PMID:23023436

  20. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference

    PubMed Central

    Piram, Maryam; Frenkel, Joost; Gattorno, Marco; Ozen, Seza; Lachmann, Helen J; Goldbach-Mansky, Raphaela; Hentgen, Véronique; Neven, Bénédicte; Stankovic Stojanovic, Katia; Simon, Anna; Kuemmerle-Deschner, Jasmin; Hoffman, Hal; Stojanov, Silvia; Duquesne, Agnès; Pillet, Pascal; Martini, Alberto; Pouchot, Jacques; Koné-Paut, Isabelle

    2012-01-01

    Background The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in the management of these lifelong diseases. Moreover, standardised disease activity scores are required for the assessment of new therapies in constant development. The aim of this study was to develop preliminary activity scores for familial Mediterranean fever, mevalonate kinase deficiency, tumour necrosis factor receptor-1-associated periodic syndrome and cryopyrin-associated periodic syndromes (CAPS). Methods The study was conducted using two well-recognised consensus formation methods: the Delphi technique and the nominal group technique. The results from a two-step survey and data from parent/patient interviews were used as preliminary data to develop the agenda for a consensus conference to build a provisional scoring system. Results 24 of 65 experts in SAID from 20 countries answered the web questionnaire and 16 attended the consensus conference. There was consensus agreement to develop separate activity scores for each disease but with a common format based on patient diaries. Fever and disease-specific clinical variables were scored according to their severity. A final score was generated by summing the score of all the variables divided by the number of days over which the diary was completed. Scores varied from 0 to 16 (0–13 in CAPS). These scores were developed for the purpose of clinical studies but could be used in clinical practice. Conclusion Using widely recognised consensus formation techniques, preliminary scores were obtained to measure disease activity in four main SAID. Further prospective validation study of this instrument will follow. PMID:21081528

  1. Irritable Bowel Syndrome.

    PubMed

    Wald

    1999-02-01

    I believe there are four essential elements in the management of patients with irritable bowel syndrome (IBS): to establish a good physician-patient relationship; to educate patients about their condition; to emphasize the excellent prognosis and benign nature of the illness; and to employ therapeutic interventions centering on dietary modifications, pharmacotherapy, and behavioral strategies tailored to the individual. Initially, I establish the diagnosis, exclude organic causes, educate patients about the disease, establish realistic expectations and consistent limits, and involve patients in disease management. I find it critical to determine why the patient is seeking assistance (eg, cancer phobia, disability, interpersonal distress, or exacerbation of symptoms). Most patients can be treated by their primary care physician. However, specialty consultations may be needed to reinforce management strategies, perform additional diagnostic tests, or institute specialized treatment. Psychological co-morbidities do not cause symptoms but do affect how patients respond to them and influence health care-seeking behavior. I find that these issues are best explored over a series of visits when the physician-patient relationship has been established. It can be helpful to have patients fill out a self-administered test to identify psychological co-morbidities. I often use these tests as a basis for extended inquiries into this area, resulting in the initiation of appropriate therapies. I encourage patients to keep a 2-week diary of food intake and gastrointestinal symptoms. In this way, patients become actively involved in management of their disease, and I may be able to obtain information from the diary that will be valuable in making treatment decisions. I do not believe that diagnostic studies for food intolerances are cost-effective or particularly helpful; however, exclusion diets may be beneficial. I introduce fiber supplements gradually and monitor them for tolerance and palatability. Synthetic fiber is often better-tolerated than natural fiber, but must be individualized. In my experience, excessive fiber supplementation often is counterproductive, as abdominal cramps and bloating may worsen. Antidiarrheal agents are very effective when used correctly, preferably in divided doses. I use them in patients in anticipation of diarrhea and especially in those who fear symptoms when engaged in activities outside the home. I encourage patients to make decisions as to when and how much to use. However, almost always, a morning dose before breakfast is used (loperamide, 2 to 6 mg) and, perhaps again later in the day when symptoms of diarrhea are prominent. I prefer antispasmodics to be used intermittently in response to periods of increased abdominal pain, cramps, and urgency. For patients with daily symptoms, especially after meals, agents such as dicyclomine before meals are useful. For patients with infrequent but severe episodes of unpredictable pain, sublingual hyoscyamine often produces rapid relief and instills confidence. In general, I recommend that oral antispasmodics be used for a limited period of time rather than indefinitely, and generally for periods of time when symptoms are prominent. For chronic visceral pain syndromes, I recommend small doses of tricyclic antidepressants. These agents are especially effective in diarrhea-predominant patients with disturbed sleep patterns but may be unacceptable to patients with constipation. I educate patients that side effects occur early and benefits may not be apparent for 3 to 4 weeks. I consider using SSRIs in low doses in patients with constipation-predominant IBS; cisapride, 10 to 20 mg three times per day, also may be beneficial. When taken with drugs that inhibit cytochrome P450, cisapride has been associated with serious cardiac arrhythmias caused by QT prolongation, including ventricular arrhythmias and torsades de pointes. These drugs include the azole fungicides; erythromycin, clarithromycin, and troleandomycin; some antidepressants; HIV protease inhibitors; and ot

  2. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients. PMID:12876834

  3. Alcohol withdrawal syndrome

    Microsoft Academic Search

    Allister Vale

    2008-01-01

    Alcohol withdrawal syndrome is a common medical problem and occurs within hours of alcohol cessation or reduction. It is characterized by autonomic hyperactivity, tremor, anxiety, restlessness seizures, hallucinations and delirium. The alcohol withdrawal syndrome may develop in patients admitted to hospital for an unrelated illness (e.g. for an operation) or patients may present in a confused state to the Emergency

  4. 6 Short bowel syndrome

    Microsoft Academic Search

    A. D. Lander

    1998-01-01

    Short bowel syndrome has significant morbidity and is potentially lethal especially when intestinal loss is extensive. The pathophysiology of short bowel syndrome, its aetiology, prognosis and our understanding of the mechanisms of adaptation are reviewed. Management by a multi-disciplinary nutritional care team is advocated and should be directed to the maintenance of growth and development, the promotion of intestinal adaptation,

  5. Equine Metabolic Syndrome

    Microsoft Academic Search

    Nicholas Frank

    2009-01-01

    Equine metabolic syndrome (EMS) is important because of its association with laminitis. Obesity and insulin resistance are two important components of EMS, and the underlying cause of this syndrome is likely to be enhanced metabolic efficiency. Affected horses are often referred to as “easy keepers” because they require fewer calories to maintain body condition, and enhanced metabolic efficiency is an

  6. The SAHA Syndrome

    Microsoft Academic Search

    Constantin E. Orfanos; YaeI D. Adler; Christos C. Zouboulis

    2000-01-01

    The presence of seborrhoea, acne, hirsutism and alopecia in women has first been summarized as SAHA syndrome in 1982 and can be associated with polycystic ovary syndrome, cystic mastitis, obesity and infertility. In 1994, the association of these androgen-dependent cutaneous signs, was classified according to their etiology into four types: (1) idiopathic, (2) ovarian, (3) adrenal, and (4) hyperprolactinemic SAHA.

  7. Congenitally palliated scimitar syndrome.

    PubMed

    Cantinotti, Massimiliano; Giordano, Raffaele; Spadoni, Isabella

    2014-10-24

    We present a rare case of scimitar syndrome in which the scimitar vessel, collecting all the right pulmonary veins, was stenotic at its junction, with the inferior caval vein and two anomalous vessels, connecting to the same venous collector, draining most of the flow to the left atrium. We arbitrarily defined this rare anatomical variant as a congenitally palliated scimitar syndrome. PMID:25341362

  8. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  9. [Children with Asperger syndrome].

    PubMed

    Bjørklund, G

    1998-04-20

    In 1994 Hans Asperger (1906-80), an Austrian physician, described a group of children with impaired social interaction and communication abilities. The name of this disorder today is Asperger's syndrome, and it is currently defined under the category of pervasive developmental disorder in DSM-IV and ICD-10. In this article the following aspects of Asperger's syndrome are focused on: personality, epidemiology, etiology, examination, differential diagnosis, management and prognosis. The article is based on a literature study. Asperger's syndrome seems to be considerably more common than "classic" autism. The syndrome is much more common in boys than in girls. The clinical characteristics of Asperger's syndrome are probably influenced by many factors, including organic and genetic factors. Asperger's syndrome is the term applied to the highest functioning end of the autism scale. There are several commonalities between Asperger's syndrome and autism, namely impairment of social interaction and communication abilities, and range of interests and activities. Differences exist primarily in the degree of impairment in language and cognitive development. Differential diagnosis, examination and management are discussed. There is a need for further research. It is important that the diagnostic criteria for Asperger's syndrome are as uniform as possible, and that they do not overlap with infantile autism. PMID:9615585

  10. La night eating syndrome

    Microsoft Academic Search

    Lucia Godini; Giovanni Castellini; Carolina Lo Sauro; Valdo Ricca; Carlo Faravelli

    IntroductionThe night eating syndrome (NES) is a disorder that has been the object of interest in the scientific community only in recent years. For this reason, there are no universally accepted diagnostic criteria for this syndrome, and data in the literature on NES are often discordant. We conducted a critical review of the literature, which focused on the epidemiologic, psychopathological,

  11. White-Nose Syndrome

    NSDL National Science Digital Library

    Douglas Stemke (University of Indianapolis; )

    2011-04-28

    The Indiana Department of Natural Resource posted cave access restrictions sign at Clifty Falls State Park in southern Indiana in response to the lethal threat posed by White-Nose Syndrome to various cave-inhabiting bat species. White-Nose Syndrome is a bat disease that is still not well understood but is presumptively caused by the associated fungus Geomyces destructans.

  12. Brugada syndrome in children.

    PubMed

    Crosson, Jane E; Nies, Melanie

    2015-02-01

    Brugada syndrome is an inherited arrhythmia associated with characteristic ST elevation in the right precordial leads and sudden cardiac death. The average age of sudden cardiac death is 40 years; reported pediatric cases remain rare. Genetic testing and increased disease awareness may result in many more children being diagnosed with Brugada syndrome. PMID:25583159

  13. The CHILD syndrome

    Microsoft Academic Search

    R. Happle; H. Koch; W. Lenz

    1980-01-01

    The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of

  14. Cauda equina syndrome

    Microsoft Academic Search

    Judita Orendá?ová; Dáša ???žková; Jozef Kafka; Nadežda Luká?ová; Martin Maršala; Igor Šulla; Jozef Maršala; Nobuo Katsube

    2001-01-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory

  15. Down Syndrome and Stuttering

    MedlinePLUS

    Tweet Down's Syndrome Parents of Preschoolers Parents of School-Age Children Just for Kids Teens Adults Teachers Speech-Language Pathologists ... leaflet is designed to help people who have Down’s syndrome, or who care for and work with people ...

  16. Classification of Malabsorption Syndromes

    Microsoft Academic Search

    Massimo Montalto; Luca Santoro; Ferruccio D’Onofrio; Valentina Curigliano; Dina Visca; Antonella Gallo; Giovanni Cammarota; Antonio Gasbarrini; Giovanni Gasbarrini

    2008-01-01

    Malabsorption syndrome is usually defined as the complex of symptoms secondary to maldigestion and\\/or malabsorption, realizing when the extension of the disease exceeds the ability of intestine compensation. Several conditions have been recognized as being responsible for this syndrome. Up to now, different criteria have been used to order them, but a definitive classification is still not available because of

  17. Sirenomelia: the mermaid syndrome

    Microsoft Academic Search

    I. V. Meisheri; V. S. Waigankar; M. P. Patel; A. Naregal; S. Ramesh; P. Muthal

    1996-01-01

    Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

  18. Focal Cortical Atrophy Syndromes

    Microsoft Academic Search

    Sandra E. Black

    1996-01-01

    The topography of Alzheimer's disease (AD) and its effects on language, perception, and praxis are briefly reviewed as background to the focal cortical atrophy syndromes, including primary progressive aphasia (PPA), posterior cortical atrophy (PCA), and corticobasal degeneration (CBD). Simplistically speaking, there are two main pathological and neuroimaging phenotypes associated with these syndromes. One is frontotemporal degeneration (FTD), a nonspecific spongiform

  19. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  20. Polycystic Ovary Syndrome

    MedlinePLUS

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts ( ... who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: Infertility Pelvic pain Excess ...

  1. Restless legs syndrome

    MedlinePLUS

    Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get ... There is no specific test for restless legs syndrome. Your health ... do a physical exam. You may have blood tests and other exams ...

  2. Streptococcal Toxic Shock syndrome.

    PubMed

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

    2014-09-01

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

  3. Unmasking Diogenes Syndrome.

    PubMed

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual "mask" of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  4. Sun and Sjogren's Syndrome

    MedlinePLUS

    ... the skin. Skin rashes and disease flares in Sjögren’s syndrome (SS) patients can result as well as ocular sensitivity ... Health Care Spending Account. For more information on Sjögren’s syndrome, visit the SSF Web site at www.sjogrens. ...

  5. [Schizophrenia or Asperger syndrome?].

    PubMed

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

    2008-09-01

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

  6. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

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

    PubMed

    Sadykova, G K

    1993-01-01

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

  8. Intravenous methylprednisolone in idiopathic childhood nephrotic syndrome

    Microsoft Academic Search

    Mohan Shenoy; Nicholas D. Plant; Malcolm A. Lewis; Mark G. Bradbury; Rachel Lennon; Nicholas J. A. Webb

    2010-01-01

    The aim of our study was to determine the clinical course of children with idiopathic childhood nephrotic syndrome (ICNS)\\u000a who received intravenous methylprednisolone (ivMP) following failure to achieve remission with standard oral prednisolone\\u000a therapy. This study was designed as a retrospective case record review from 1993 to 2007. Sixteen children received ivMP over\\u000a the 15-year study period, of whom ten

  9. The management of Sjögren's syndrome

    Microsoft Academic Search

    Clio P Mavragani; Niki M Moutsopoulos; Haralampos M Moutsopoulos

    2006-01-01

    Sjögren's syndrome is a chronic autoimmune disorder, characterized by lymphocytic infiltration and malfunction of the exocrine glands, resulting in dry mouth and eyes. The syndrome can present either alone (primary Sjögren's syndrome) or in the context of an underlying connective tissue disease (secondary Sjögren's syndrome). Systemic features, resulting from cutaneous, respiratory, renal, hepatic, neurologic, and vascular involvement, often occur. Two

  10. Abdominal obesity and metabolic syndrome

    Microsoft Academic Search

    Jean-Pierre Després; Isabelle Lemieux

    2006-01-01

    Metabolic syndrome is associated with abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. Proposed criteria for identifying patients with metabolic syndrome have contributed greatly to preventive medicine, but the value of metabolic syndrome as a scientific concept remains controversial. The presence of metabolic syndrome alone cannot predict global cardiovascular disease

  11. Isolated central vestibular syndrome.

    PubMed

    Kim, Sung-Hee; Park, Seong-Ho; Kim, Hyo-Jung; Kim, Ji-Soo

    2015-04-01

    Isolated vestibular syndrome may occur all along the vestibular pathways from the peripheral labyrinth to the brain. By virtue of recent developments in clinical neurotology and neuroimaging, however, diagnosis of isolated central vestibulopathy is increasing. Here, we review five distinct syndromes of isolated central vestibular syndrome from lesions restricted to the vestibular nuclei, the nucleus prepositus hypoglossi, the flocculus, the tonsil, and the nodulus, and introduce a new vestibular syndrome from isolated involvement of the inferior cerebellar peduncle. Decreased responses to head impulses do not exclude a central lesion as a cause of isolated vestibular syndrome. Brain imaging, including diffusion-weighted magnetic resonance imaging (MRI), may be falsely negative during the acute phase in patients with isolated vestibular syndrome because of a stroke. Central signs should be sought carefully in patients with isolated vertigo, even when the patients show the features of peripheral vestibulopathy and negative MRIs. Recognition of these isolated central vestibular syndromes would aid in defining the lesions responsible for various vestibular manifestations in central vestibulopathy. PMID:25735822

  12. Williams Syndrome What causes Williams syndrome?

    E-print Network

    Palmeri, Thomas

    are missing a small piece of chromosome 7. This rare genetic disorder occurs spontaneously in 1 out of every 7 in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all thinking--teach skills for reframing negative thoughts. · Alleviate anxieties--reassure and aid transition

  13. Syndrome In Question*

    PubMed Central

    Maldonado, Gabriela; Peruzzo, Juliano; Tubone, Mariana Quirino; Reinehr, Clarissa Prieto Herman; Escobar, Gabriela Fortes

    2015-01-01

    The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. PMID:25672315

  14. [Restless-legs syndrome].

    PubMed

    Karroum, E; Konofal, E; Arnulf, I

    2008-01-01

    Restless-legs syndrome (RLS) is a sensorimotor disorder, characterized by an irresistible urge to move the legs usually accompanied or caused by uncomfortable and unpleasant sensations. It begins or worsens during periods of rest or inactivity, is partially or totally relieved by movements and is exacerbated or occurs at night and in the evening. RLS sufferers represent 2 to 3% of the general population in Western countries. Supportive criteria include a family history, the presence of periodic-leg movements (PLM) when awake or asleep and a positive response to dopaminergic treatment. The RLS phenotypes include an early onset form, usually idiopathic with a familial history and a late onset form, usually secondary to peripheral neuropathy. Recently, an atypical RLS phenotype without PLM and l-DOPA resistant has been characterized. RLS can occur in childhood and should be distinguished from attention deficit/hyperactivity disorder, growing pains and sleep complaints in childhood. RLS should be included in the diagnosis of all patients consulting for sleep complaints or discomfort in the lower limbs. It should be differentiated from akathisia, that is, an urge to move the whole body without uncomfortable sensations. Polysomnographic studies and the suggested immobilization test can detect PLM. Furthermore, an l-DOPA challenge has recently been validated to support the diagnosis of RLS. RLS may cause severe-sleep disturbances, poor quality of life, depressive and anxious symptoms and may be a risk factor for cardiovascular disease. In most cases, RLS is idiopathic. It may also be secondary to iron deficiency, end-stage renal disease, pregnancy, peripheral neuropathy and drugs, such as antipsychotics and antidepressants. The small-fiber neuropathy can mimic RLS or even trigger it. RLS is associated with many neurological and sleep disorders including Parkinson's disease, but does not predispose to these diseases. The pathophysiology of RLS includes an altered brain-iron metabolism, a dopaminergic dysfunction, a probable role of pain control systems and a genetic susceptibility with nine loci and three polymorphisms in genes serving developmental functions. RLS treatment begins with the elimination of triggering factors and iron supplementation when deficient. Mild or intermittent RLS is usually treated with low doses of l-DOPA or codeine; the first-line treatment for moderate to severe RLS is dopaminergic agonists (pramipexole, ropinirole, rotigotine). In severe, refractory or neuropathy-associated RLS, antiepileptic (gabapentin, pregabalin) or opioid (oxycodone, tramadol) drugs can be used. PMID:18656214

  15. Case-control study of sudden infant death syndrome in Lithuania, 1997–2000

    Microsoft Academic Search

    Vilija Bubnaitien?; Ramun? Kal?dien?; Rimantas K?valas

    2005-01-01

    BACKGROUND: To identify risk factors for sudden infant death syndrome relevant in Lithuania. METHODS: A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997–2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region of birth was carried out. RESULTS: Deaths incidence

  16. Abnormal lipoprotein pattern in patients with Alagille syndrome depends on Icterus severity

    Microsoft Academic Search

    A Davit-Spraul; ML Pourci; V Atger; M Cambillau; M Hadchouel; N Moatti; A Legrand

    1996-01-01

    BACKGROUND & AIMS: Children with Alagille syndrome have lipid abnormalities that differ according to the severity of icteric periods. The lipoprotein profiles of 22 patients with Alagille syndrome were determined and the findings were compared with the severity of jaundice. METHODS: Plasma lipids and apolipoproteins (apos), isolated lipoprotein composition, and lecithin\\/ cholesterol acyltransferase (LCAT) activity were analyzed in patients. Patients

  17. A Functional Magnetic Resonance Imaging Study of Tic Suppression in Tourette Syndrome

    Microsoft Academic Search

    Bradley S. Peterson; Pawel Skudlarski; Adam W. Anderson; Heping Zhang; J. Chris Gatenby; Cheryl M. Lacadie; James F. Leckman; John C. Gore

    1998-01-01

    Background: The inability to inhibit unwanted behav- iors and impulses produces functional debility in a broad range of neuropsychiatric disorders. A potentially im- portant model of impulse control is volitional tic sup- pression in Tourette syndrome. Methods: Tic suppression was studied in 22 adult subjects with Tourette syndrome by using functional magnetic resonance imaging. Images acquired during periods of voluntary

  18. Surgical management of the adrenal glands in the multiple endocrine neoplasia type II syndrome

    Microsoft Academic Search

    Jon A. van Heerden; Glen W. Sizemore; J. Aidan Carney; Clive S. Grant; William H. ReMine; Sheldon G. Sheps

    1984-01-01

    During a 30-year period (1951–1981), seventeen patients underwent bilateral adrenalectomy for established adrenal medullary disease with catecholamine excess. Fourteen patients had the MEN IIa syndrome and 3 had the MEN IIb syndrome. There was no major operative morbidity and no operative mortality.

  19. Sleep structure and sleepiness in chronic fatigue syndrome with or without coexisting fibromyalgia

    Microsoft Academic Search

    Fumiharu Togo; Benjamin H Natelson; Neil S Cherniack; Jennifer FitzGibbons; Carmen Garcon; David M Rapoport

    2008-01-01

    INTRODUCTION: We evaluated polysomnograms of chronic fatigue syndrome (CFS) patients with and without fibromyalgia to determine whether patients in either group had elevated rates of sleep-disturbed breathing (obstructive sleep apnea or upper airway resistance syndrome) or periodic leg movement disorder. We also determined whether feelings of unrefreshing sleep were associated with differences in sleep architecture from normal. METHODS: We compared

  20. Effect of transfusion in acute chest syndrome of sickle cell disease

    Microsoft Academic Search

    Umit Emre; Scott T. Miller; Manuel Gutierez; Phillip Steiner; Sreedhar P. Rao; Madu Rao

    1995-01-01

    Objective: To study the effects of transfusion on the clinical course and oxygenation indexes of children with sickle cell disease and acute chest syndrome. Methods: During a 2-year period, 36 children with sickle cell disease admitted with a total of 40 episodes of acute chest syndrome were examined. Patients were given a clinical severity score indicative of the degree of

  1. The lupus syndrome induced by hydralazine: a common complication with low dose treatment

    Microsoft Academic Search

    H A Cameron; L E Ramsay

    1984-01-01

    The true incidence of the lupus syndrome induced by hydralazine was determined in a longitudinal study of 281 patients consecutively starting hydralazine for hypertension over a 51 month period. Data on the duration of treatment and the maximum dose achieved were examined using life table analysis. After three years' treatment with hydralazine the incidence of the lupus syndrome was 6.7%

  2. Stockholm syndrome manifestation of Munchausen: an eye-catching misnomer.

    PubMed

    Spuijbroek, Esther J; Blom, Nicole; Braam, Arjan W; Kahn, David A

    2012-07-01

    A young woman hospitalized herself for a picture resembling Stockholm syndrome (becoming a willing captive in a cult, sympathetic to the leader). After a short period of time, it became clear that she had used a false identity and had invented the story, leading to diagnoses of both Munchausen syndrome and dissociative identity disorder. Despite a long period of treatment, she eventually suicided. The authors examine the coexistence of these two unusual disorders and their possible shared etiologies in this complex case. PMID:22805905

  3. National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium

    E-print Network

    National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium Linking Syndrome Society #12;Today's Presentation: Down Syndrome Advocacy, Action & System Change · Why Advocate · Down syndrome research policy landscape · How to advocate and get involved in our efforts

  4. Recurrent Rapunzel syndrome.

    PubMed

    Tiwary, S K; Kumar, S; Khanna, R; Khanna, A K

    2011-06-01

    Rapunzel syndrome is a rare condition that occurs when gastric trichobezoar extends beyond the pylorus and into the bowel. Recurrent Rapunzel syndrome is an extremely rare entity, with only two cases reported in the literature so far. Here, we present a case of recurrent Rapunzel syndrome in a 15-year-old girl. She underwent laparotomy twice in five years to extract trichobezoars measuring 58 cm and 62 cm. In both stances when Rapunzel syndrome was diagnosed, a tuft of hair extending from the stomach toward the jejunum was observed. The patient underwent psychiatric consultation and supervision after the first laparotomy; however, a lack of follow-up resulted in recurrence. We conclude that complete removal of trichobezoar and psychiatric consultation, coupled with long-term follow-up, are essential to prevent recurrence. PMID:21731983

  5. Congenital nephrotic syndrome

    MedlinePLUS

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  6. Tourette Syndrome Association

    MedlinePLUS

    Team Tourette Making a Difference With Every Mile! Run, Walk Participate! Click Here... Children & Teens Youth Ambassador Program, Children's ... MINK RECEIVES OLIVER SACKS AWARD FOR EXCELLENCE IN TOURETTE SYNDROME-CLICK HERE TS and OCD - June 12, ...

  7. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

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

  8. Childhood Nephrotic Syndrome

    MedlinePLUS

    ... inflammatory drugs, and exposure to chemicals, such as mercury and lithium. Congenital Diseases and Childhood Nephrotic Syndrome ... hormones to promote growth and help bones mature removal of one or both kidneys to decrease the ...

  9. Learning about Marfan Syndrome

    MedlinePLUS

    ... Lumbosacral dural ectasia determined by CT scan or magnetic resonance imaging (MRI). Four of the eight typical skeletal features. ... known, and also using a technique called linkage analysis (tracking the gene for Marfan syndrome in a ...

  10. Metabolic Syndrome and Cancer

    PubMed Central

    Pothiwala, Pooja; Jain, Sushil K.

    2009-01-01

    Abstract Since its first description by Reavan in 1988, accepted criteria for clinical identification of the components of metabolic syndrome have been promulgated by the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) and the World Health Organization (WHO) as well as the International Diabetes Federation (IDF), and the American Association of Clinical Endocrinologists (AACE). Insulin resistance is a common metabolic abnormality underlying type 2 diabetes mellitus and is also an independent risk factor for cardiovascular disease. Although ATP III identified cardiovascular disease (CVD) as the primary clinical outcome of the metabolic syndrome, we now have evidence that metabolic syndrome is associated with type 2 diabetes mellitus, polycystic ovarian disease, nonalcoholic fatty liver disease, and possibly some cancers. This review summarizes evidence in support of the relationship between metabolic syndrome and various cancers and possible underlying mechanisms and therapeutic interventions. PMID:19284314

  11. Blepharokeratoconjunctivitis in Cockayne syndrome.

    PubMed

    Bhojwani, Rajan; Lloyd, I Chris; Alam, Suemyaa; Ashworth, Jane

    2009-01-01

    Cockayne syndrome is a multisystemic, autosomal recessive disease resulting from abnormalities of DNA repair. Ocular manifestations are common, particularly congenital cataract and retinal dystrophy. This study describes a previously unreported association of blepharokeratoconjunctivitis (BKC) in Cockayne syndrome. The authors conducted a retrospective case review of patients with Cockayne syndrome between 1997 and 2006. The ocular manifestations were documented. All cases were bilaterally aphakic from congenital cataract surgery. Four cases of BKC with resultant corneal changes were identified. Two other cases of BKC without corneal changes were also noted. There were no cases of corneal ulceration or visually significant scarring. These findings are clinically important because many patients with Cockayne syndrome wear contact lenses for the refractive correction of aphakia with a resultant risk of corneal ulceration. PMID:19496505

  12. Complex Regional Pain Syndrome

    MedlinePLUS

    ... injury. Your doctor may also call this condition reflex sympathetic dystrophy or causalgia. The cause of the ... specifically at dealing with chronic pain. Other Organizations Reflex Sympathetic Dystrophy Syndrome Association of America Questions to ...

  13. Klippel-Trenaunay syndrome

    MedlinePLUS

    ... present at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in ...

  14. Alport Syndrome Diagnosis

    MedlinePLUS

    ... right is an X-linked Alport kidney. (Cosmo Bio Company, LTD.) Kidney Biopsy Alport Syndrome produces unique changes in the walls of the blood vessels of the glomeruli (kidney structures) that can be detected by performing electron microscopy ...

  15. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your health care provider prescribed.

  16. Wernicke-Korsakoff syndrome

    MedlinePLUS

    ... sometimes occurs with a chronic illness or after obesity (bariatric) surgery. Korsakoff syndrome, or Korsakoff psychosis, tends to develop as Wernicke symptoms go away. Wernicke encephalopathy causes brain damage in lower parts of the brain ...

  17. Marfan Syndrome (For Parents)

    MedlinePLUS

    ... require surgery. Some teens may want to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  18. Sexuality and Down Syndrome

    MedlinePLUS

    ... Any Special Needs or Concerns in Regard To Birth Control? Approximately 50% of women with Down syndrome are ... effectively and possible side effects. Tubal ligation (permanent birth control through surgery) may also be performed without added ...

  19. Postural Tachycardia Syndrome

    MedlinePLUS

    ... Institution: NIH Library User Name Password Sign In Cardiology Patient Page Postural Tachycardia Syndrome Perspectives for Patients ... Toledo, Ohio. Correspondence to Blair P. Grubb, MD, Cardiology, Health Science Campus, University of Toledo, 3000 Arlington ...

  20. Facts about Down Syndrome

    MedlinePLUS

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

  1. Broken Heart Syndrome

    MedlinePLUS

    ... the Asian population in 1990 and named takotsubo cardiomyopathy (KAR-de-o-mi-OP-ah-thee). In ... The condition also is commonly called stress-induced cardiomyopathy. The cause of broken heart syndrome is not ...

  2. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones ... from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms ...

  3. Lesch-Nyhan syndrome

    MedlinePLUS

    ... down as an X-linked, or sex-linked trait . It occurs mostly in boys. People with this ... feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is ...

  4. Nephrotic Syndrome in Adults

    MedlinePLUS

    ... www.nephcure.org The Nephrotic Syndrome Study Network (NEPTUNE) University of Michigan 206 Simpson Memorial Institute 102 ... Ann Arbor, MI 48109 Phone: 1–877–9–NEPTUNE (1–877–963–7886) or 734–615–5021 ...

  5. Milk-alkali syndrome

    MedlinePLUS

    ... the dynamics of calcium homeostasis. Clin J Am Soc Nephrol . 1006;1:641– 654. Grubb M, Gaurav ... Welcome to the calcium-alkali syndrome. J Am Soc Nephrol. 2010;21:1440-1443. Yoshizawa H, Morishita ...

  6. ADHD & Down Syndrome

    MedlinePLUS

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down syndrome may have many barriers to effective communication. The receptive language skills of children with Down ...

  7. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  8. Learning about Duane Syndrome

    MedlinePLUS

    ... have been linked to DS. Top of page Clinical Research on Duane Syndrome Currently, NHGRI is not conducting ... NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrials.gov] Clinical Research FAQ Top of page Additional Resources for Duane ...

  9. Genetic, chromosomal, and syndromic causes of neural tube defects

    PubMed Central

    Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

    2014-01-01

    Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

  10. [Juvenile polyposis syndrome].

    PubMed

    Vasov?ák, P; Foretová, L; Puchmajerová, A; K?epelová, A

    2012-01-01

    Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations. PMID:22920200

  11. Guillain-Barré syndrome

    PubMed Central

    Seneviratne, U.

    2000-01-01

    Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several factors are useful in predicting the outcome of these patients.???Keywords: Guillain-Barré syndrome PMID:11085768

  12. Vertebral artery stump syndrome.

    PubMed

    Nguyen, T N; Raymond, J; Mahmoud, M; Weill, A; Roy, D; Guilbert, F

    2008-01-01

    After occlusion of flow in an artery, further ischaemic episodes are not expected due to lack of a flow conduit to carry the embolus. In the carotid stump syndrome, ongoing ischaemic events may continue due to collateral flow via the external carotid artery. We report two patients presenting with posterior circulation strokes after documented vertebral artery occlusion, due to a vertebral stump syndrome. Their presentation, the pathophysiology of cervico-vertebral anastomoses and management are described. PMID:18079301

  13. Bannayan Ruvalcaba Riley Syndrome

    PubMed Central

    Sagi, Sashidhar V.; Ballard, Darren D.; Marks, Rebecca A.; Dunn, Katie R.

    2014-01-01

    A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome.

  14. The fragile X syndrome

    Microsoft Academic Search

    B B de Vries; D J Halley; B A Oostra; M F Niermeijer

    1998-01-01

    The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples

  15. [Nijmegen Breakage syndrome].

    PubMed

    Erdos, Melinda; Tóth, Beáta; Juhász, Pálma; Mahdi, Mohamed; Maródi, László

    2010-04-18

    Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. The syndrome is caused by mutations in the NBS1 gene, which encodes a DNA-repair protein, named nibrin. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inborn error of innate immunity. PMID:20353920

  16. Aspergillus Overlap Syndromes

    Microsoft Academic Search

    Ayman O. Soubani

    \\u000a \\u000a Aspergillus causes a variety of clinical syndromes that are influenced by the patients’ immune status and lung function and structure.\\u000a Whilst these syndromes (such as chronic cavitary pulmonary aspergillosis, Aspergillus sinusitis, allergic bronchopulmonary aspergillosis – ABPA – and invasive aspergillosis) tend to have their unique clinical,\\u000a serological, and radiological presentations, there are rare situations where these may overlap, co-exist or

  17. Lemierre’s syndrome

    Microsoft Academic Search

    Adam W. Armstrong; Katherine Spooner; John W. Sanders

    2000-01-01

    Lemierre’s syndrome is characterized by an oropharyngeal infection followed by internal jugular vein septic thrombophlebitis\\u000a and metastatic emboli, most often to the lungs and joints. The syndrome is most commonly associated with the anaerobic gram-negative\\u000a rod Fusobacterium necrophorum. Diagnosis is established with evidence of metastatic infection and internal jugular vein thrombophlebitis. CT is considered\\u000a the diagnostic procedure of choice. Treatment

  18. Lynch Syndrome Genes

    Microsoft Academic Search

    Päivi Peltomäki

    2005-01-01

    Since the discovery of the major human genes with DNA mismatch repair (MMR) function in 1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly linked to susceptibility of hereditary nonpolyposis colorectal cancer (HNPCC)\\/Lynch syndrome. Among these, PMS2 mutations are associated with diverse clinical features, including those of the Turcot syndrome. Two additional MMR genes, MLH3 and PMS1,

  19. Hamartomatous polyposis syndromes: A review

    PubMed Central

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner. The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs. Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer. PMID:25022750

  20. Psoriasis and Metabolic Syndrome

    PubMed Central

    Malkic Salihbegovic, Eldina; Hadzigrahic, Nermina; Cickusic, Amra Jakubovic

    2015-01-01

    Introduction: Psoriasis is a chronic skin ailment which can be connected with an increased occurrence of other illnesses, including the metabolic syndrome. Examinees and methods: A prospective study has been conducted which included 70 patients affected by psoriasis, both genders, older than 18 years. Average age being 47,14 (SD=±15,41) years, from that there were 36 men or 51,43 and 34 women or 48,57%. The average duration of psoriasis was 15,52 (SD= ±12,54) years. For purposes of diagnosing the metabolic syndrome, the criteria of National Cholesterol Education Program Adult Treatment Panel III, (NCEP ATP III) were used. For purposes of detecting the severity and spread of psoriasis, Psoriasis Area and Severity Index (PASI) was used. Results: The incidence of metabolic syndrome in patients with psoriasis was 38,57%. Average values of PASI score were 16,65. The increase in values of PASI score and metabolic syndrome were statistically highly connected. (r=0,3, p=0,0001). Conclusion: Psoriasis is connected with metabolic syndrome, there is a positive correlation between the severity of psoriasis and frequency of metabolic syndrome. PMID:26005254

  1. Microdeletion 3q syndrome.

    PubMed

    Ramieri, Valerio; Tarani, Luigi; Costantino, Francesco; Basile, Emanuela; Liberati, Natascia; Rinna, Claudio; Cascone, Piero; Colloridi, Fiorenza

    2011-11-01

    The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

  2. Anesthetic management of two cases of Beckwith-Wiedemann syndrome.

    PubMed

    Kimura, Yoshinobu; Kamada, Yasuhiro; Kimura, Saori

    2008-01-01

    Two cases of children with Beckwith-Wiedemann syndrome are presented. This syndrome consists of various abnormalities, including macroglossia, visceromegaly, omphalocele, and gigantism. These abnormalities frequently require operative correction during the neonatal period. We anesthesiologists should make plans for difficult airway managements in patients with this syndrome. Our two patients also showed larger sized tracheas than those estimated by their age and height. A cuffed tube, though still controversial, has recently been used in children. We recommend using a cuffed tube in patients with this syndrome, because the appropriate tracheal size may not be predictable, tracheal intubation might be difficult, and risks incurred during changing of a tracheal tube should be avoided. PMID:18306025

  3. Toxic Shock Syndrome in Utah—1976 to 1983

    PubMed Central

    Jacobson, Jay A.; Kasworm, Evelyn M.; Nichols, Craig R.

    1985-01-01

    The sustained high incidence of staphylococcal toxic shock syndrome (TSS) in Utah provided an opportunity to examine changes in the epidemiology of this disease during a period of greater media attention to the syndrome and increased scientific understanding of its etiology and pathogenesis. An apparent peak in the statewide incidence of TSS in 1980 appears in part attributable to self-reporting of outpatient cases. The incidence of the syndrome in patients having a nasal operation appears equal to or greater than the incidence in menstrual-age women. The case-fatality ratio and recurrence rate of TSS have declined since widespread recognition of the syndrome, possibly related to earlier diagnosis and initiation of antistaphylococcal therapy. Identifying milder cases has also contributed to a lower mortality. PMID:4049854

  4. Genetics Home Reference: Rabson-Mendenhall syndrome

    MedlinePLUS

    ... and may include treatment providers. Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome You might also ... people use for Rabson-Mendenhall syndrome? Mendenhall syndrome pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia, insulin- ...

  5. Learning about Cri du Chat Syndrome

    MedlinePLUS

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  6. Symptoms and Diagnosis of Metabolic Syndrome

    MedlinePLUS

    ... Tools & Resources Stroke More Symptoms and Diagnosis of Metabolic Syndrome Updated:Nov 20,2014 What are the symptoms ... content was last reviewed on 05/14/2014. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  7. [Autoimmune fatigue syndrome and fibromyalgia syndrome].

    PubMed

    Itoh, Y; Igarashi, T; Tatsuma, N; Imai, T; Yoshida, J; Tsuchiya, M; Murakami, M; Fukunaga, Y

    1999-08-01

    We have encounted two patients with fibromyalgia (FM) initially diagnosed as having autoimmune fatigue syndrome (AIFS). To investigate the relationship between AIFS and FM, the distribution of the tender points in patients with AIFS was assessed according to the ACR criteria for FM. It was revealed that AIFS patients had 5.6 tender points on averages. Patients with headaches, digestive problems, or difficulty going to school had more tender points than patients without. Patients with ANA titers < 1: 160 had more tender points than patients with ANA > or = 1: 160. Anti-Sa negative patients had more tender points than positive patients. These results suggest a relationship between AIFS and FM in terms of the pathophysiologic mechanisms of the numerous tender points. In other words, ANA-positive FM patients could be one form of AIFS, as well as ANA-positive chronic fatigue syndrome patients. Thus, autoimmunity could explain the controversial disease entities of FM and/or CFS. PMID:10466339

  8. Lemierre's syndrome--the syndrome quite forgotten.

    PubMed

    Krishna, Kavita; Diwan, A G; Gupt, Ankur

    2012-03-01

    A 17 year old male presented with seizures, headache, and fever and left chronic suppurative otitis media. A 35 year old male presented with headache, giddiness, vomiting, pain in eyes, diplopia and right chronic suppurative otitis media. Brain imaging in both revealed thrombosis of lateral and sigmoid sinus and also of internal jugular vein on the left and right side respectively. A diagnosis of Lemierre's syndrome was made in both. They were treated with antibiotics and anticoagulants, and they responded to treatment. We want to report this case as we feel, that with the advent of the antibiotic era, this syndrome has become rare; and so "quite forgotten" or overlooked, by many physicians. PMID:22799122

  9. Marfan syndrome: An eyesight of syndrome?

    PubMed Central

    Kumar, Ashok; Agarwal, Sarita

    2014-01-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  10. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  11. Hyper-Immunoglobulin E Syndrome (HIES) or Job's Syndrome

    MedlinePLUS

    ... Content Area Hyper-Immunoglobulin E Syndrome (HIES) or Job’s Syndrome People with HIES have recurrent boils of ... Syriac Bible of Paris depicting the biblical character Job suffering from boils. Credit: Wikimedia Commons HIES may ...

  12. Juvenile polyposis syndrome

    PubMed Central

    Brosens, Lodewijk AA; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  13. Juvenile polyposis syndrome.

    PubMed

    Brosens, Lodewijk Aa; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-11-28

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  14. Cauda equina syndrome.

    PubMed

    Orendácová, J; Cízková, D; Kafka, J; Lukácová, N; Marsala, M; Sulla, I; Marsala, J; Katsube, N

    2001-08-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory disorders may appear. These disorders include low-back pain, saddle anesthesia, bilateral sciatica, then motor weakness of the lower extremities or chronic paraplegia and, bladder dysfunction. Multiple etiologies can cause the cauda equina syndrome. Among them, non-neoplastic compressive etiologies such as herniated lumbosacral discs and spinal stenosis and spinal neoplasms play a significant role in the development of the cauda equina syndrome. Non-compressive etiologies of the cauda equina syndrome include ischemic insults, inflammatory conditions, spinal arachnoiditis and other infectious etiologies. The use of canine, porcine and rat models mimicking the cauda equina syndrome enabled discovery of the effects of the compression on nerve root neural and vascular anatomy, the impairment of impulse propagation and the changes of the neurotransmitters in the spinal cord after compression of cauda equina. The involvement of intrinsic spinal cord neurons in the compression-induced cauda equina syndrome includes anterograde, retrograde and transneuronal degeneration in the lumbosacral segments. Prominent changes of NADPH diaphorase exhibiting, Fos-like immunoreactive and heat shock protein HSP72 were detected in the lumbosacral segments in a short-and long-lasting compression of the cauda equina in the dog. Developments in the diagnosis and treatment of patients with back pain, sciatica and with a herniated lumbar disc are mentioned, including many treatment options available. PMID:11311464

  15. Nijmegen breakage syndrome (NBS).

    PubMed

    Chrzanowska, Krystyna H; Gregorek, Hanna; Dembowska-Bagi?ska, Bo?enna; Kalina, Maria A; Digweed, Martin

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. PMID:22373003

  16. Dietary patterns and metabolic syndrome in a Japanese working population

    PubMed Central

    2013-01-01

    Background Metabolic syndrome has become a major public health concern, but the role of diet in the etiology of this syndrome is not well understood. This study investigated the association between major dietary patterns and prevalence of metabolic syndrome in a Japanese working population. Methods This cross-sectional study was conducted among 460 municipal employees (284 men and 176 women), aged 21–67?years, who participated in a health survey at the time of periodic checkup. Dietary patterns were derived by using the principal component analysis of the consumption of 52 food and beverage items, which were assessed by a validated brief diet history questionnaire. Metabolic syndrome was defined according to the modified NCEP-ATP III criteria. Logistic regression was used to examine the association between dietary patterns and metabolic syndrome with adjustment of potential confounding variables. Results Three dietary patterns were identified. Westernized breakfast pattern characterized by high intakes of bread, confectionaries, and milk and yogurt but low intakes of rice and alcoholic beverages was inversely associated with prevalence of metabolic syndrome and high blood pressure (P for trend?=?0.02 and 0.049, respectively). Animal food pattern characterized by high intakes of fish and shellfish, meat, processed meat, mayonnaise, and egg was not associated with prevalence of metabolic syndrome, but was positively associated with high blood glucose (P for trend?=?0.03). Healthy Japanese dietary pattern characterized by vegetables and fruits, soy products, mushrooms, and green tea was not appreciably associated with prevalence of metabolic syndrome or its components. Conclusions The results suggest that westernized breakfast pattern may confer some protection against metabolic syndrome in Japanese. The causality of these associations needs to be confirmed. PMID:23537319

  17. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  18. Aicardi-Goutieres Syndrome Disorder

    MedlinePLUS

    ... Encephalopathy (familial infantile), Pseudo-Torch syndrome, Pseudotoxoplasmosis syndrome Table of Contents (click to jump to sections) What ... of AGS are inherited in an autosomal recessive manner, which means that both parents of a child ...

  19. Ellis-van Creveld syndrome

    MedlinePLUS

    Call your health care provider if your child has symptoms of this syndrome. If you have a family history of Ellis-van Creveld syndrome and your child has any symptoms, visit your health care provider. Genetic ...

  20. Genetics Home Reference: Silver syndrome

    MedlinePLUS

    ... with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs ... inherit ; inherited ; motor ; mutation ; nervous system ; paraplegia ; penetrance ; pes cavus ; prevalence ; protein ; sign ; spasticity ; syndrome You may ...

  1. Learning about Antiphospholipid Syndrome (APS)

    MedlinePLUS

    ... and links from the National Institutes of Health. Learning About Antiphospholipid Syndrome (APS) What is antiphospholipid syndrome ( ... with APS include : Systemic Vascular Thrombosis While the deep veins of the legs are the most frequent ...

  2. Middle East Respiratory Syndrome (MERS)

    MedlinePLUS

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... Middle East Respiratory Syndrome (MERS) is a severe respiratory illness. It causes fever, coughing, and shortness of breath. About 30% of people who have gotten ...

  3. How Is Marfan Syndrome Diagnosed?

    MedlinePLUS

    ... of Marfan syndrome may vary quite a bit. Specialists Involved Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome. ...

  4. Genetics Home Reference: Antiphospholipid syndrome

    MedlinePLUS

    ... also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses ... Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 ...

  5. Genetics Home Reference: Proteus syndrome

    MedlinePLUS

    ... proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another is type 2 segmental Cowden syndrome. However, some scientific articles still refer to PTEN -related Proteus ... complication ; connective tissue ; diagnosis ; ...

  6. First Trimester Down Syndrome Screen

    MedlinePLUS

    ... website will be limited. Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... and a quad screen performed? 1. What is Down syndrome? About 1 in 700 babies are born with ...

  7. How Is Metabolic Syndrome Treated?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include losing weight, being physically active, ...

  8. Families and Fragile X Syndrome

    MedlinePLUS

    ... Publications Scientific Research Planning Scientific Resources Research Families & Fragile X Syndrome: Index Skip sharing on social media links Share ... Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family ...

  9. What Causes Fragile X Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Fragile X syndrome? Skip sharing on social media links Share this: ... with the mutated FMR1 gene has symptoms of Fragile X syndrome, because the body may still be able to ...

  10. Fragile X Syndrome: Other FAQs

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media links ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile X ...

  11. Genetics Home Reference: Troyer syndrome

    MedlinePLUS

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

  12. Irregular sleep-wake syndrome

    MedlinePLUS

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  13. Genetics Home Reference: Klinefelter syndrome

    MedlinePLUS

    ... with those of other conditions. What are the genetic changes related to Klinefelter syndrome? Klinefelter syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  14. Genetic Features of Turner Syndrome

    MedlinePLUS

    Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism X-defects Hereditary Aspects Figure 1. Gametogenesis Figure ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  15. Genetics Home Reference: Turner syndrome

    MedlinePLUS

    ... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  16. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

    ... this condition have been reported. What are the genetic changes related to Emanuel syndrome? Emanuel syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  17. Sudden Infant Death Syndrome (SIDS)

    MedlinePLUS

    ... Parents > General Health > Your Kid's Sleep > Sudden Infant Death Syndrome (SIDS) Print A A A Text Size ... answers is part of what makes sudden infant death syndrome (SIDS) so frightening. SIDS is the leading ...

  18. Genetics Home Reference: Barth syndrome

    MedlinePLUS

    ... pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some ... Barth syndrome? aciduria ; bacteria ; cardiomyopathy ; cell ; chromosome ; dilated ; elastic ; gene ; heart failure ; hypotonia ; inborn errors of metabolism ; ...

  19. Propofol Infusion Syndrome in Refractory Status Epilepticus

    PubMed Central

    Hwang, Woo Sub; Gwak, Hye Min; Seo, Dae-Won

    2013-01-01

    Background and Purpose: Propofol is used for treating refractory status epilepticus, which has high rate of mortality. Propofol infusion syndrome is a rare but often fatal syndrome, characterized by lactic acidosis, lipidemia, and cardiac failure, associated with propofol infusion over prolonged periods of time. We investigated the clinical factors that characterize propofol infusion syndrome to know the risk of them in refractory status epilepticus. Methods: This retrospective observation study was conducted in Samsung medical center from Jan. 2005 to Dec. 2009. Thirty two patients (19 males, 13 females, aged between 16 and 64 years), with refractory status epilepsy were included. Their clinical findings and treatment outcomes were evaluated retrospectively. We divided our patients into established status epilepticus (ESE) and refractory status epilepticus (RSE). And then the patients with RSE was further subdivided into propofol treatment group (RSE-P) and the other anesthetics treatment group (RSE-O). We analyzed the clinical characteristics by comparison of the groups. Results: There were significant differences of hypotension and lipid change between ESE and RSE (p<0.05). However, there was no significant difference between RSE-P and RSE-O groups. The hospital days were longer in RSE than in ESE (p=0.012) and treatment outcome was also worse in RSE than in ESE (p=0.007) but there were no significant differences of hospital stays and treatment outcome between RSE-P and RSE-O. Conclusions: RSE is very critical disease with high mortality, which may show as many clinical changes as propofol infusion syndrome. Therefore propofol infusion syndrome might be considered as one of the clinical manifestations of RSE. PMID:24649467

  20. 24 CFR 203.266 - Period covered by periodic MIP.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...2011-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

  1. 24 CFR 203.266 - Period covered by periodic MIP.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ...2012-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

  2. 24 CFR 203.266 - Period covered by periodic MIP.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...2010-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

  3. 24 CFR 203.266 - Period covered by periodic MIP.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ...2013-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

  4. 24 CFR 203.266 - Period covered by periodic MIP.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ...2014-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

  5. Landau–Kleffner syndrome: a rare childhood epileptic aphasia

    Microsoft Academic Search

    Marie-Noëlle Metz-Lutz; Caroline Seegmuller; Catherine Kleitz; Anne de Saint Martin; Edouard Hirsch; Christian Marescaux

    1999-01-01

    Landau–Kleffner Syndrome (LKS), a rare epileptic aphasia which occurs at a crucial period for the development of verbal skills, arouses interest and controversy among both clinicians and neuroscientists interested in the development of language. On the one hand, the relationship between epilepsy and aphasia and the poor outcome of epileptic aphasia compared to lesional childhood aphasia is a matter of

  6. Effectiveness of Responsive Teaching with Children with Down Syndrome

    ERIC Educational Resources Information Center

    Karaaslan, Ozcan; Mahoney, Gerald

    2013-01-01

    A randomized control study was conducted to evaluate Responsive Teaching (RT) with a sample of 15 Turkish preschool aged children with Down syndrome (DS) and their mothers over a six-month period of time. RT is an early intervention curriculum that attempts to promote children's development by encouraging parents to engage in highly…

  7. Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome

    Microsoft Academic Search

    Bernard L. Maria; Eugen Boltshauser; Scott C. Palmer; Thang X. Tran

    1999-01-01

    The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the

  8. Teaching Children with Tourette Syndrome. ERIC Digest E570.

    ERIC Educational Resources Information Center

    Knoblauch, Bernadette

    This digest provides basic information on Tourette Syndrome (TS) as well as guidelines for appropriate classroom accommodations. It reports that about 100,000 Americans have diagnosed TS with symptoms including multiple motor and vocal tics; frequent (daily) occurrence of bouts of tics; periodic changes in the number, frequency, and severity of…

  9. Trajectory of adaptive behavior in males with fragile X syndrome

    Microsoft Academic Search

    Elisabeth M. Dykens; Robert M. Hodapp; Sharon I. Ort; James F. Leckman

    1993-01-01

    Adaptive behavior in males with fragile X syndrome was longitudinally examined in 17 subjects, ages 1 to 17. Subjects received adaptive behavior evaluations on two occasions within one of three age periods. All domains of the Vineland Adaptive Behavior Scales increased from youngest to oldest age groups, yet older subjects (ages 10 to 17) shoed significant declines in their adaptive

  10. Changing the Perspective on Early Development of Rett Syndrome

    ERIC Educational Resources Information Center

    Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V.

    2013-01-01

    We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…

  11. Ocular Findings of Beals Syndrome

    Microsoft Academic Search

    Sugie Takaesu-Miyagi; Hiroshi Sakai; Tadashi Shiroma; Kazuhisa Hayakawa; Yusei Funakoshi; Shoichi Sawaguchi

    2004-01-01

    Background In this report of two Okinawan patients with Beals syndrome and accompanying ocular complications, the symptoms of Beals syndrome and Marfan syndrome are compared. The etiology of these two syndromes is considered in relation to fibrillin. Cases Case 1 was a 5-year-old boy who showed blue sclera and bilateral enlargement of optic disc cupping. Case 2 was a 24-year-old

  12. CHARGE Syndrome: An Educators' Primer

    ERIC Educational Resources Information Center

    Smith, Katherine G.; Smith, Isabel M.; Blake, Kim

    2010-01-01

    This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…

  13. Molecular diagnosis of Alpers syndrome

    Microsoft Academic Search

    Khue V. Nguyen; Farida S. Sharief; Sherine S. L. Chan; William C. Copeland; Robert K. Naviaux

    2006-01-01

    Background\\/Aims: Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. Methods: The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG mutations found

  14. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  15. Autoinflammatory syndromes: diagnosis and management

    Microsoft Academic Search

    Sara De Sanctis; Manuela Nozzi; Marianna Del Torto; Alessandra Scardapane; Stefania Gaspari; Giuseppina de Michele; Luciana Breda; Francesco Chiarelli

    2010-01-01

    During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndromes to help pediatricians in the diagnosis

  16. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  17. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  18. Genetics Home Reference: Down syndrome

    MedlinePLUS

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

  19. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

    The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

  20. Periodic chiral structures

    NASA Technical Reports Server (NTRS)

    Jaggard, Dwight L.; Engheta, Nader; Pelet, Philippe; Liu, John C.; Kowarz, Marek W.; Kim, Yunjin

    1989-01-01

    The electromagnetic properties of a structure that is both chiral and periodic are investigated using coupled-mode equations. The periodicity is described by a sinusoidal perturbation of the permittivity, permeability, and chiral admittance. The coupled-mode equations are derived from physical considerations and used to examine bandgap structure and reflected and transmitted fields. Chirality is observed predominantly in transmission, whereas periodicity is present in both reflection and transmission.

  1. Epilepsy-aphasia syndromes.

    PubMed

    Steinlein, Ortrud K

    2009-06-01

    The combination of aphasia and epileptic seizures is characteristic for Landau-Kleffner syndrome and childhood disintegrative disorder. These disorders affect young children with previously normal psychomotor development, causing profound regression with loss of receptive and expressive language capabilities. The etiologies of these childhood epilepsy-aphasia syndromes are largely unknown, and the long-term prognosis is poor. The seizures usually remit in adolescence, however most patients show persistent language dysfunction. In autosomal dominant lateral temporal lobe epilepsy, the aphasic symptoms are transitory and mostly restricted to the ictal phase. The monogenic etiology of this rare seizure disorder offers the possibility to study the molecular basis of epilepsy-aphasia syndromes. PMID:19496686

  2. Isaacs' syndrome in pregnancy.

    PubMed

    Lide, Brianna; Singh, Jasbir; Haeri, Sina

    2014-01-01

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

  3. [Cephalic hypersensitivity syndrome].

    PubMed

    Shimizu, Toshihiko; Hirata, Koichi; Manaka, Shinya; Arakawa, Ichiro

    2012-01-01

    The number of patients suffering from chronic headache accompanied by dizziness and cephalic ringing is gradually increasing. Pathophysiology of migraine has been commonly explained by trigeminovascular theory, although recent studies have suggested that the cause of the migraine stems from cortical hyperexcitability. We measured EEG in 1,000 patients suffering from daily headache accompanied by dizziness and cephalic ringing. Here we defined a new syndrome,"cephalic hypersensitivity syndrome" as a subliminal cortical hyperexcitability which itself is invisible but apparently seen as some symptoms such as dizziness and cephalic ringing. The cephalic hypersensitivity syndrome should be treated to attenuate the excitability by an appropriate triptan medication during attacks so as to exhibit its recurrence. PMID:22413510

  4. Guillain-Barré syndrome.

    PubMed

    Arcila-Londono, Ximena; Lewis, Richard A

    2012-07-01

    Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy, which has various clinical presentations and both axonal and demyelinating forms. The original description of "ascending paralysis" encompasses the most common varieties: the primary demyelinating form, acute inflammatory demyelinating polyneuropathy (AIDP), and some of the axonal forms, acute motor axonal neuropathy (AMAN) and acute motor and sensory axonal neuropathy (AMSAN). However, there are now well-documented acute "monophasic" polyneuropathies that have a different clinical phenomenology than that described originally by Guillain, Barré, and Strohl: Miller Fisher syndrome, pure sensory neuropathy/neuronopathy, pandysautonomia, and oropharyngeal variant. Here the authors review both typical GBS (AIDP, AMAN, and AMSAN), and variant syndromes with a focus on clinical and diagnostic features, pathologic findings, pathogenesis, and treatment. PMID:23117942

  5. Venous thoracic outlet syndrome.

    PubMed

    Moore, Robert; Wei Lum, Ying

    2015-04-01

    Venous thoracic outlet syndrome is a complex but rare disease that often can have excellent outcomes if quickly recognized and treated. The syndrome results from compression of the subclavian vein along its exit from the thoracic cavity and frequently affects young otherwise healthy patients. Modern diagnosis is made with a combination of clinical exam, appropriate non-invasive imaging, and, finally, contrast venography, which can be both diagnostic and therapeutic. Treatments have evolved over time to the point where patients can undergo less extensive procedures than previously performed and still maintain excellent outcomes. One of the most important predictors of outcome is the initiation of treatment within 14 days of symptoms. Hence, the importance of the accurate and prompt diagnosis of this syndrome in patients with an upper-extremity deep vein thrombotic episode cannot be further underscored. This review is a concise summary of the background and treatment algorithm for this patient population. PMID:25832605

  6. Lemierre's syndrome (necrobacillosis)

    PubMed Central

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

    1999-01-01

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

  7. Muir-Torre syndrome.

    PubMed

    Bhaijee, Feriyl; Brown, Alexandra S

    2014-12-01

    Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability. Pathologists have an important role in the early detection and initial diagnosis of MTS: identification of at-risk individuals allows appropriate screening and surveillance for visceral malignancies, thereby reducing morbidity and mortality. Herein, we describe the clinicopathologic features of MTS. PMID:25427047

  8. Periodic discharge of adrenocorticotropin and vasopressin associated with focal glomerulosclerosis.

    PubMed

    Yokoyama, W; Fujieda, M; Okada, T; Maeda, H; Ushida, M; Machida, Y; Naruse, K; Maeda, A; Wakiguchi, H; Kurashige, T

    1998-12-01

    We report the first case of the syndrome of periodic adrenocorticotropin (ACTH) and vasopressin (ADH) discharge associated with focal glomerulosclerosis. Approximately 30 cases of this syndrome have so far been reported in Japan, but no cases associated with renal dysfunction have yet been reported. The patient, a 10-year-old Japanese boy, was referred to our hospital because of recurrent attacks of vomiting. He was diagnosed as having this syndrome from clinical and laboratory findings. While various drugs were tried to manage his vomiting attacks, only valproic acid appeared to be effective in reducing the frequency of the attacks. Chronic nephritis was manifested when the patient was 12 years old, which required treatment with continuous ambulatory peritoneal dialysis. Valproic acid was proved to be effective in reducing the number of attacks over 4 months. PMID:9893298

  9. PDGFRA-mutant syndrome.

    PubMed

    Ricci, Riccardo; Martini, Maurizio; Cenci, Tonia; Carbone, Arnaldo; Lanza, Paola; Biondi, Alberto; Rindi, Guido; Cassano, Alessandra; Larghi, Alberto; Persiani, Roberto; Larocca, Luigi M

    2015-07-01

    Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards, however, inflammatory fibroid polyps also revealed PDGFRA mutations. Subsequently, gastrointestinal CD34+ 'fibrous tumors' of uncertain classification were described in a germline PDGFRA-mutant context. Our aim was to characterize the syndrome produced by germline PDGFRA mutations and establish diagnostic criteria and management strategies for this hitherto puzzling disease. We studied a kindred displaying multiple gastrointestinal mesenchymal tumors, comparing it with published families/individuals with possible analogous conditions. We identified a novel inherited PDGFRA mutation (P653L), constituting the third reported example of familial PDGFRA mutation. In adult mutants we detected inflammatory fibroid polyps, gastric GISTs and gastrointestinal fibrous tumors of uncertain nosology. We demonstrate that the syndrome formerly defined as INF/NF3b (exemplified by the family reported herein) is simplistically considered a form of familial GIST, because inflammatory fibroid polyps often prevail. Fibrous tumors appear variants of inflammatory fibroid polyps. 'INF/NF3b' and 'familial GIST' are misleading terms which we propose changing to 'PDGFRA-mutant syndrome'. In this condition, unlike KIT-dependent familial GIST syndromes, if present, GISTs are stomach-restricted and diffuse Cajal cell hyperplasia is not observed. This restriction of GISTs to the stomach in PDGFRA-mutant syndrome: (i) focuses oncological concern on gastric masses, as inflammatory fibroid polyps are benign; (ii) supports a selective role of gastric environment for PDGFRA mutations to elicit GISTs, justifying the known predilection for stomach of sporadic PDGFRA-mutant GISTs. An awareness that inflammatory fibroid polyps, relatively common among gastrointestinal mesenchymal tumors, may be the prevailing tumor in PDGFRA-mutant syndrome could eventually reveal an unsuspected prevalence of this condition. PMID:25975287

  10. Wernicke-Korsakoff syndrome.

    PubMed Central

    Zubaran, C.; Fernandes, J. G.; Rodnight, R.

    1997-01-01

    Alcohol abuse is one of the most serious problems in public health and the Wernicke-Korsakoff syndrome is one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in treatment planning. Treatment is based on restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article, the literature concerning Wernicke-Korsakoff syndrome is reviewed. Images p31-a PMID:9039406

  11. Equine metabolic syndrome.

    PubMed

    Frank, Nicholas

    2011-04-01

    The concept of an equine metabolic syndrome (EMS) was first proposed in 2002. This concept has developed over time, and EMS was recently described in a consensus statement released by the American College of Veterinary Internal Medicine. In human medicine, metabolic syndrome (MetS) refers to a set of risk factors that predict the risk of cardiovascular disease, including obesity, glucose intolerance and insulin resistance (IR), dyslipidemia, microalbuminuria, and hypertension. EMS shares some of the features of MetS, including increased adiposity, hyperinsulinemia, IR, but differs in that laminitis is the primary disease of interest. PMID:21392655

  12. Asperger syndrome revisited.

    PubMed

    Baskin, Joseph H; Sperber, Michael; Price, Bruce H

    2006-01-01

    Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options. PMID:16596080

  13. [Pulmonary-renal syndrome].

    PubMed

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

    2009-01-01

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

  14. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

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

  15. Dermatoglyphics in Down's syndrome.

    PubMed

    Rajangam, S; Janakiram, S; Thomas, I M

    1995-01-01

    Dermatoglyphic data were obtained from 235 cytogenetically confirmed patients of Down's syndrome. The data were correlated and compared with 230 controls. Printing and transparent adhesive tape photography methods were used to get the dermatoglyphic prints. Patients' total finger ridge counts and 'atd' angles differed significantly from that of the controls. Mostly ulnar loop pattern was observed in the patients. Abnormal dermatoglyphic features such as, simian crease, Sydney line and patterns in the hypothenar and interdigital areas have occurred more frequently in the patients. Dermatoglyphics and the analyses carried out have proved that they are invaluable in their clinical value, in selecting patients of Down's syndrome for cytogenetic analysis. PMID:7759898

  16. Nijmegen breakage syndrome.

    PubMed

    Kondratenko, Irina; Paschenko, Olga; Polyakov, Alexandr; Bologov, Andrey

    2007-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene--nibrin--is a protein with 95 kDa molecular weight (p95). The same mutation in the NBS1 gene (deletion 657del5) was detected in most of the evaluated patients. In this chapter, we describe the analysis of the literature and our results on clinical and immunological features and genetic evaluation of 21 NBS patients. PMID:17712992

  17. Immunoadsorption in Goodpasture's syndrome.

    PubMed

    Laczika, K; Knapp, S; Derfler, K; Soleiman, A; Hörl, W H; Druml, W

    2000-08-01

    Patients with Goodpasture's syndrome presenting with dialysis-dependent end-stage renal failure at diagnosis almost never regain independent renal function. We report a patient with a 100% crescentic lesion in whom reversal of dialysis dependence was achieved by immunoadsorption together with immunosuppression. In a second patient, early initiation of immunoadsorption was able to completely restore normal renal function as early as 1 month after the start of treatment. These data give evidence of the use of immunoadsorption as a hopeful alternative to conventional plasma exchange in patients with Goodpasture's syndrome showing advanced renal failure. PMID:10922318

  18. Shaken baby syndrome.

    PubMed

    Altimier, Leslie

    2008-01-01

    Non-accidental head trauma in infants is the leading cause of infant death from injury. Clinical features that suggest head trauma (also known as shaken baby syndrome or shaken impact syndrome) include the triad consisting of retinal hemorrhage, subdural, and/or subarachnoid hemorrhage in an infant with little signs of external trauma. Abusive head injuries are among the most common causes of serious and lethal injuries in children. These injuries may result from impact or shaking or a combination of these mechanisms. These mechanisms cause the child's head to undergo acceleration/ deceleration movements, which may create inertial movement of the brain within the cranial compartment. PMID:18287904

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

    PubMed

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

    2015-06-01

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

  20. Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome

    PubMed Central

    Vandana, V. P.; Bindu, Parayil Sankaran; Sonam, Kothari; Taly, Arun B.; Gayathri, N.; Madhu, N.; Sinha, S.

    2015-01-01

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disease. The available studies on MELAS syndrome are limited to evaluation of radiological, audiological, genetic, and neurological findings. Among the various neurological manifestations, speech-language and swallowing manifestations are less discussed in the literature. This report describes the speech-language and swallowing function in an 11-year-old girl with MELAS syndrome. The intervention over a period of 6 months is discussed. PMID:25878740

  1. Stress in Families of Young Children with Down Syndrome, Williams Syndrome, and Smith-Magenis Syndrome.

    ERIC Educational Resources Information Center

    Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.

    2000-01-01

    Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…

  2. Guillain-Barré syndrome in Western Australia, 1980-1985.

    PubMed

    Hankey, G J

    1987-02-01

    A clinicoepidemiological study of 109 patients with Guillain-Barré syndrome who were admitted to the four major teaching hospitals in Perth between January 1, 1980 and December 31, 1985 was conducted through the Hospital Morbidity Data System. The annual incidence rate of Guillain-Barré syndrome was 1.35 cases per 100,000 population. The age-adjusted incidence rates were 1.49 cases per 100,000 men and 1.20 cases per 100,000 women. A minor peak in the sex-adjusted incidence rate was present in young adult life with a larger peak in later life. Twenty-two (20%) patients presented in the five-month period from July 1984 to November 1984 (P less than 0.05) but a common infectious agent or geographical area of residence was not discovered during this period. Immune function had been affected potentially before the onset of Guillain-Barré syndrome in 12 (11%) patients, which raises further speculation as to the role of immunological mechanisms in the pathogenesis of Guillain-Barré syndrome. In order to enhance our understanding of this disorder, it is recommended that an assessment of immune function be considered in cases of Guillain-Barré syndrome and also chronic inflammatory demyelinating polyneuropathy. PMID:3574191

  3. Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

    PubMed Central

    2012-01-01

    The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype. PMID:23304551

  4. Prostate cancer incidence in males with Lynch syndrome

    PubMed Central

    Haraldsdottir, Sigurdis; Hampel, Heather; Wei, Lai; Wu, Christina; Frankel, Wendy; Bekaii-Saab, Tanios; de la Chapelle, Albert; Goldberg, Richard M.

    2014-01-01

    Purpose An increased risk of prostate cancer is currently not considered a part of the Lynch syndrome spectrum. The purpose of this study was to retrospectively examine prostate cancer incidence in the Lynch syndrome cohort at the Ohio State University in comparison with that in the general population. Methods We included all males diagnosed with Lynch syndrome from June 1998 to June 2012 at the Ohio State University and obtained baseline information including cancer history. If patients had not been seen in the 12 months before June 2012, they were contacted to document changes in their cancer history. We compared prostate cancer incidence among the Lynch syndrome families with that of the general population by using the Surveillance, Epidemiology, and End Results registry 1999–2009. Results Of the 188 males identified with Lynch syndrome, 11 males were diagnosed with prostate cancer during the study period. The ratio of observed to expected numbers of prostate cancer cases resulted in a standardized rate ratio of 4.87 (95% confidence interval: 2.43–8.71). Impaired mismatch repair expression and microsatellite instability were seen in one out of two prostate cancer specimens available for testing. Conclusion Males with Lynch syndrome had a nearly fivefold increased risk of developing prostate cancer but did not appear to have earlier onset or a more aggressive phenotype. PMID:24434690

  5. Rumination syndrome: a review of current concepts and treatments.

    PubMed

    Hejazi, Reza A; McCallum, Richard W

    2014-10-01

    Rumination is a normal and common phenomenon among ruminant animals; but in humans, it is always regarded as symptom indicative of abnormal function of the upper gastrointestinal tract, and understanding of the mechanisms explaining this event are still evolving. Learning-based theories, organic factors such as gastroesophageal reflux disease and psychological disturbances (eg, depression, anxiety) and the role of life stresses have been postulated as potential mechanisms of rumination. In this review, we take the approach that rumination syndrome is a distinct and discrete functional gastroduodenal disorder. We review current concepts of the pathophysiology of this entity and diagnostic approaches, then detail the treatment paradigms that have been pursued in rumination syndrome in adults. Patients with rumination syndrome have a very distinct set of symptoms. It was focused on the immediate postprandial period, but recently, there is an awareness of an expanding spectrum of the clinical presentation. This includes the concept of "conditioned vomiting" occurring in the setting of delayed gastric emptying (gastroparesis). Physicians' awareness of rumination syndrome is essential in the diagnosis and management of this disorder. Stress and psychological aspects in rumination syndrome are invariably in the background and have to be addressed. The crucial steps in the treatment strategy for rumination syndrome rely on reassurance, education and a physiologic explanation to the patient and family that this is not a "disease," followed by behavioral and relaxation programs and addressing stress factors. PMID:24642653

  6. Periodic table(3)

    NSDL National Science Digital Library

    Brian P. Reid

    This site not only provides a clickable-by-element resource for quickly finding physical properties of the elements (up to 109), but also provides students with puzzles to hone their ability to identify and place elements in their respective place in the periodic chart. Very useful for early learning of periodic placements.

  7. Tr1 Cells, but Not Foxp3+ Regulatory T Cells, Suppress NLRP3 Inflammasome Activation via an IL-10-Dependent Mechanism.

    PubMed

    Yao, Yu; Vent-Schmidt, Jens; McGeough, Matthew D; Wong, May; Hoffman, Hal M; Steiner, Theodore S; Levings, Megan K

    2015-07-15

    The two best-characterized types of CD4(+) regulatory T cells (Tregs) are Foxp3(+) Tregs and Foxp3(-) type 1 regulatory (Tr1) cells. The ability of Foxp3(+) Tregs and Tr1 cells to suppress adaptive immune responses is well known, but how these cells regulate innate immunity is less defined. We discovered that CD44(hi)Foxp3(-) T cells from unmanipulated mice are enriched in Tr1 cell precursors, enabling differentiation of cells that express IL-10, as well as Tr1-associated cell surface markers, CD49b and LAG-3, and transcription factors, cMaf, Blimp-1, and AhR. We compared the ability of Tr1 cells versus Foxp3(+) Tregs to suppress IL-1? production from macrophages following LPS and ATP stimulation. Surprisingly, Tr1 cells, but not Foxp3(+) Tregs, inhibited the transcription of pro-IL-1? mRNA, inflammasome-mediated activation of caspase-1, and secretion of mature IL-1?. Consistent with the role for IL-10 in Tr1 cell-mediated suppression, inhibition of inflammasome activation and IL-1? secretion was abrogated in IL-10R-deficient macrophages. Moreover, IL-1? production from macrophages derived from Nlrp3(A350V) knockin mice, which carry a mutation found in cryopyrin-associated periodic syndrome patients, was suppressed by Tr1 cells but not Foxp3(+) Tregs. Using an adoptive transfer model, we found a direct correlation between Tr1 cell engraftment and protection from weight loss in mice expressing a gain-of-function NLRP3. Collectively, these data provide the first evidence for a differential role of Tr1 cells and Foxp3(+) Tregs in regulating innate immune responses. Through their capacity to produce high amounts of IL-10, Tr1 cells may have unique therapeutic effects in disease-associated inflammasome activation. PMID:26056255

  8. Aging and Down Syndrome

    MedlinePLUS

    ... developmental disabilities (I/DD). Dr. Moran is on faculty at Harvard Medical School and Beth Israel Deaconess ... getting started faCiaL eXpression tone of voiCe body Language 28 The National Down Syndrome Society Image Courtesy ...

  9. Syndrome In Question*

    PubMed Central

    do Nascimento, Ana Cláudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  10. Amniotic band syndrome.

    PubMed

    Shetty, Prathvi; Menezes, Leo Theobald; Tauro, Leo Francis; Diddigi, Kumar Arun

    2013-10-01

    Amniotic band syndrome is an uncommon congenital disorder without any genetic or hereditary disposition. It involves fetal entrapment in strands of amniotic tissue and causes an array of deletions and deformations. Primary treatment is plastic and reconstructive surgery after birth with in utero fetal surgery also coming in vogue. PMID:24426485

  11. Asperger Syndrome and Terror.

    ERIC Educational Resources Information Center

    Roe, Karen

    1999-01-01

    This article describes the sense of terror felt by many individuals with Asperger syndrome due to distorted stimuli and social skills deficits. Societal attitudes that ostracize those that behave strangely or are socially awkward are discussed, along with disability persecution and discrimination. (CR)

  12. Meconium aspiration syndrome

    Microsoft Academic Search

    Jane Yizhen Lim; S. Arulkumaran

    2008-01-01

    Meconium aspiration syndrome (MAS) is a rare condition affecting infants who inhale or aspirate meconium-stained liquor during or after labour. It is a serious disease with complications of neonatal respiratory distress, and can lead to the death of infants if it is not detected early or is left untreated.Hypoxia, hypercarbia and chorioamnionitis predispose infants to this condition, and often they

  13. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  14. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  15. Troyer syndrome revisited

    Microsoft Academic Search

    Christos Proukakis; Harold Cross; Heema Patel; Michael A. Patton; Alan Valentine; Andrew H. Crosby

    2004-01-01

    Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer

  16. The Tie retraction syndrome.

    PubMed

    Geerling, Gerd; Neppert, Birte; Hemmant, Bridget

    2012-12-01

    Tissue retraction is implicated in the pathogenesis of various ophthalmic disorders. Here we describe the clinical characteristics, epidemiology and pathophysiology of a form of retraction syndrome which - to the best of our knowledge - has not been reported in the ophthalmic literature so far. We have termed this condition - consisting of a slowly progressive pseudovertical shortening of tie length due to a horizontal extension of girth length - the "Tie retraction syndrome" (TRS). Other pathognomonic features include an increased tie tip to belt buckle distance and a prolapse of the subumbilical fat pad (SUFP). The syndrome has a clear male to female preponderance and shows an increasing incidence with age and income before tax. Based on a newly proposed grading scheme we discuss and illustrate the diagnosis as well as the medical and surgical management options of this abundant, but often undiagnosed condition. The authors have no explanation for the apparent lack of awareness for this widely preponderant syndrome and its severe cosmetically disfiguring potential. We thus would like to invite all fellow colleagues with expertise in the field to comment or present their views. PMID:23088329

  17. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  18. Chronic fatigue syndrome

    Microsoft Academic Search

    Judith B Prins; Jos WM van der Meer; Gijs Bleijenberg

    2006-01-01

    During the past two decades, there has been heated debate about chronic fatigue syndrome (CFS) among researchers, practitioners, and patients. Few illnesses have been discussed so extensively. The existence of the disorder has been questioned, its underlying pathophysiology debated, and an effective treatment opposed; patients' organisations have participated in scientific discussions. In this review, we look back on several controversies

  19. Neurological syndromes of brucellosis.

    PubMed Central

    Bahemuka, M; Shemena, A R; Panayiotopoulos, C P; al-Aska, A K; Obeid, T; Daif, A K

    1988-01-01

    Eleven patients with brucellosis presented with neurological features closely simulating transient ischaemic attacks, cerebral infarction, acute confusional state, motor neuron disease, progressive multisystem degeneration, polyradiculoneuropathy, neuralgic amyotrophy, sciatica and cauda equina syndrome. Most patients improved quickly after adequate antibiotic treatment but chronic cases responded poorly. These protean neurological manifestations of brucellosis indicate that the underlying pathological mechanisms are diverse. PMID:3145961

  20. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  1. Turner Syndrome 2008

    Microsoft Academic Search

    Carolyn A. Bondy

    2009-01-01

    Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diagnoses of mosaicism for 45,X associated with normal ultrasounds have a high survival rate and may have no or only mild features

  2. Delusional Misidentification Syndromes

    PubMed Central

    Forlenza, Nicholas; Gujski, Mariusz; Hashmi, Seema; Isaac, George

    2006-01-01

    During the past 80 years, delusional misidentification syndromes (DMS), especially the Fregoli and Capgras syndromes, have posed challenges to mental health professionals due to a lack of comprehensive understanding of the syndromes and a lack of effective treatment. An issue that remains to be unresolved is whether DMS (either in its pure form or as embedded symptoms of other diagnoses) can be accommodated in the present Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). During the past two decades, neurophysiological and neuroimaging studies have pointed to the presence of identifiable brain lesions, especially in the right frontoparietal and adjacent regions, in a considerable proportion of patients with DMS. Prior to the advent of such studies, DMS phenomena were explained predominantly from the psychodynamic point of view. Deficits in working memory due to abnormal brain function, are considered to play causative roles in DMS. In this article, we present two cases of Fregoli and Capgras syndromes and discuss the relevant theoretical and practical issues. PMID:20975828

  3. IBMFS - Pearson Syndrome

    Cancer.gov

    Patients with Pearson Syndrome may have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Low red cell counts (anemia) can be a major problem, and low platelet counts (thrombocytopenia) can also occur. Symptoms are often present in infancy. Liver and kidney disease usually develop. Examination of the bone marrow under the microscope reveals characteristic holes ("vacuoles") in many cells.

  4. Beckwith–Wiedemann syndrome

    PubMed Central

    Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

    2010-01-01

    Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

  5. [Autoimmune polyglandular syndromes].

    PubMed

    Krysiak, Robert; Okopien, Bogustaw; Bo?dys, Aleksandra

    2008-01-01

    Autoimmune polyglandular syndromes are conditions characterised by the association of two or more organ-specific disorders. On the basis of the clinical picture, they are divided into four different types. Type 1 is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene located on chromosome 21. Its major components include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. Type 2 is defined as the combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Type 3 is composed of autoimmune thyroid diseases associated with other autoimmune conditions with the exception of Addison's disease. The remaining autoimmune combinations not included in the previous groups belong to type 4. Proper care of individuals with autoimmune polyendocrine syndromes requires knowledge of the problems that may arise, and the best approaches to detect and care for the manifestations of these incurable, but manageable, diseases. The objective of this paper is to review the aetiology, clinical manifestations, diagnosis and treatment of autoimmune polyglandular syndromes with a special emphasis on the most recent literature. PMID:19140388

  6. Eyes in arhinencephalic syndromes.

    PubMed Central

    Karseras, A G; Laurence, K M

    1975-01-01

    The ocular features of eight cases of arhinencephaly have been described. Prediction of the degree of brain involvement from the eye defects could not be made, but eye abnormalities were present in all cases. The relationship of these syndromes to chromosomal abnormalities is emphasized. In the less severe cases treatable endocrine dysgenesis must be excluded. Images PMID:812548

  7. What Is Asperger Syndrome?

    ERIC Educational Resources Information Center

    Barnhill, Gena P.

    2001-01-01

    This article describes characteristics of individuals with Asperger Syndrome, a developmental disability defined by impairments in social relationships and verbal and nonverbal communication and by restrictive, repetitive patterns of behavior, interests, and activities. Diagnostic criteria, essential features of the disability, and other notable…

  8. Congenital Long QT Syndrome

    Microsoft Academic Search

    G. Michael Vincent; Katherine Timothy; Li Zhang

    2002-01-01

    The congenital Long QT syndrome (LQTS) is a primary electrophysiologic disorder of the heart caused by mutations of genes which encode three different cardiac ion channels. The disease is a common cause of unexplained syncope and sudden death in the young, and should be routinely considered in such cases. The current estimate of the prevalence of LQTS is 1:7000, and

  9. Living with Marfan Syndrome

    MedlinePLUS

    ... your quality of life. Joining a patient support group may help you adjust to living with Marfan syndrome. You ... it. Talk with your doctor about local support groups or check with an area medical center. Support from family and friends also can help relieve stress and anxiety. Let your loved ones ...

  10. Sjögren-Larsson Syndrome

    Microsoft Academic Search

    Ursel Theile

    1974-01-01

    Since 1957 Sjögren and Larsson have published 28 cases of a new entity: ichthyosis, oligophrenia and di- or tetraspastic disorder a lot of cases have been reported from all over the world. Until now there are 111 cases, on which the diagnosis of Sjögren Larsson syndrome can be made certainly. Half the patients present speech defects, a third alterations of

  11. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  12. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  13. Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) is an important disease of soybean in North and South America. SDS first occurred in South America in the early 1990s. In the U.S.A., SDS was first detected in AK in 1971. Now SDS occurs in most soybean production areas of the U.S. The SDS pathogen is a soil-borne fungu...

  14. Thoracic Endometriosis Syndrome

    Microsoft Academic Search

    Areti Augoulea; Irene Lambrinoudaki; George Christodoulakos

    2008-01-01

    Endometriosis is defined as the presence of endometrial glands and stroma outside the uterine cavity and is usually confined to the pelvis. Thoracic endometriosis syndrome (TES) is a rare disorder characterized by the presence of functioning endometrial tissue in the pleura, the lung parenchyma and the airways. TES may present with hemoptysis, due to the shedding of endometrial tissue in

  15. The fragile X syndromes

    Microsoft Academic Search

    David L. Nelson

    1995-01-01

    Fragile X syndrome is a leading cause of mental retardation worldwide, with an incidence of approximately one case in 2000 live births. It is amongst the most common of human genetic diseases, and was the first to be associated with an unstable trinucleotide (CGG) repeat sequence. It is also characterized by a chromosomal fragile site which was the first of

  16. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  17. Severe acute respiratory syndrome

    Microsoft Academic Search

    Y Guan; K Y Yuen; J S M Peiris

    2004-01-01

    Severe acute respiratory syndrome (SARS) was caused by a previously unrecognized animal coronavirus that exploited opportunities provided by 'wet markets' in southern China to adapt to become a virus readily transmissible between humans. Hospitals and international travel proved to be 'amplifiers' that permitted a local outbreak to achieve global dimensions. In this review we will discuss the substantial scientific progress

  18. Ischiofemoral impingement syndrome.

    PubMed

    Lee, Soyoung; Kim, Inhwan; Lee, Sung Moon; Lee, Jieun

    2013-02-01

    Ischiofemoral impingement syndrome is known as one of the causes of hip pain due to impingement of ischium and femur, and usually correlated with trauma or operation. We report a rare case of ischiofemoral impingement syndrome that has no history of trauma or surgery. A 48-year-old female patient was referred for 2 months history of the left hip pain, radiating to lower extremity with a hip snapping sensation. She had no history of trauma or surgery at or around the hip joint and femur. The magnetic resonance imaging (MRI) of the lumbar spine showed no abnormality, except diffuse bulging disc without cord compression at the lumbosacral area. Electrophysiologic study was normal, and there were no neurologic abnormalities compatible with the lumbosacral radiculopathy or spinal stenosis. Hip MRI revealed quadratus femoris muscle edema with concurrent narrowing of the ischiofemoral space. The distance of ischiofemoral space and quadratus femoris space were narrow. It was compatible with ischiofemoral impingement syndrome. After treatment with nonsteroidal anti-inflammatory drugs, physical therapy, and exercise program, the patient's pain was relieved and the snapping was improved. To our knowledge, this is the first reported case of a nontraumatic, noniatrogenic ischiofemoral impingement syndrome, and also the first case to be treated by a nonsurgical method in the Republic of Korea. PMID:23526578

  19. Rothmund-Thomson syndrome

    Microsoft Academic Search

    Lidia Larizza; Gaia Roversi; Ludovica Volpi

    2010-01-01

    Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and\\/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is

  20. Raine syndrome: an overview.

    PubMed

    Faundes, Víctor; Castillo-Taucher, Silvia; Gonzalez-Hormazabal, Patricio; Chandler, Kate; Crosby, Andrew; Chioza, Barry

    2014-09-01

    Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775]. Its prevalence is estimated to be < 1/1,000,000. Although it was originally thought always to be lethal, there have now been six reports of patients surviving into childhood and this phenotype is still being defined. The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of skull and long bones. Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be admitted at a neonatal intensive care unit as significant respiratory distress is often present immediately after birth. We present here a review of the pertinent literature in clinical manifestations, molecular background, diagnosis and management. PMID:25019372

  1. Shaken baby syndrome.

    PubMed

    Miehl, Nickolaus J

    2005-01-01

    Shaken baby syndrome (SBS) is a violent act of abuse that can cause myriad neurologic, cognitive, and other functional deficits. In the most serious cases, death can result. Health care practitioners, child care providers, and parents must be educated on the signs of SBS. Cases should be thoroughly reviewed and prevention strategies developed to prevent future incidents. PMID:17073042

  2. [Cushing's syndrome: diagnostic exploration].

    PubMed

    Tabarin, A; Roger, P

    The diagnosis of Cushing's syndrome is one of the most perplexing and controversial problems in endocrinology. However, significant advances in the diagnosis procedures have been made in the past decade. The diagnostic studies involved in the evaluation of patients with suspected Cushing's syndrome fall into two categories: confirming the presence of true hypercortisolism and establishing the precise aetiology. Diagnosis of Cushing's syndrome: ambulatory screening relies on the overnight 1 mg dexamethasone test. Negative tests are confirmed by measuring cortisol in two 24-hour urine samples. If cortisol excretion is slightly above normal, a 48-hour low-dose dexamethasone suppression test or an intravenous infusion dexamethasone suppression test are required. Diagnosis of the aetiology of Cushing's syndrome: the first step is to establish if the hypercortisolism is ACTH-dependent or not. This step is solved by measuring plasma ACTH and cortisol in the late afternoon. Computed tomography scanning of the adrenal glands is required in ACTH-independent Cushing's syndrome. A unilateral tumour will be demonstrated in most of cases. If bilateral lesions are found, dynamic testing using cortisol releasing factor and/or metyrapone must be performed to confirm the ACTH-independency of the syndrome. In ACTH-dependent Cushing's syndrome, the major difficulty is to distinguish between a pituitary source and an ectopic source of ACTH secretion. Magnetic resonance imaging of the pituitary with gadolinium enhancement must be preferred to computed tomography scanning but its sensitivity is not better than 70-80% and false positives can occur. When no macroscopic pituitary lesion can be detected, bilateral inferior petrosal sinus sampling coupled to CRH injection for ACTH measurement will indicate the source of ACTH secretion. If this test indicates the patient has Cushing's disease, pituitary trans-sphenoidal surgery can be performed. If the test indicates the patient has ectopic ACTH-secretion, a cervico-thoraco-abdominal scanning is necessary to identify the tumour. In the case of occult tumour the hypercortisolism must be controlled by pharmacological agents and the imaging investigations must be repeated at appropriate intervals. PMID:8127815

  3. Neuroleptic malignant syndrome: A diagnostic challenge

    PubMed Central

    Ambulkar, Reshma P; Patil, Vijaya P; Moiyadi, Aliasgar V

    2012-01-01

    We report the case of a 7-year-old girl operated for craniopharyngioma who developed hyperkalemic cardiac arrest in the post-operative period. She was diagnosed as Neuroleptic malignant syndrome (NMS) and the causative drug was carbamazepine. It was essentially a diagnosis of exclusion, and treatment was mainly supportive in form of withdrawal of the neuroleptic medication (carbamazepine) and administration of dantrolene and bromocriptine. Although, relatively uncommon, NMS can be fatal. NMS presents a clinical challenge as the patient outcome depends on its prompt recognition and treatment. PMID:23225938

  4. Hypoplastic left heart syndrome

    PubMed Central

    Connor, Jean Anne; Thiagarajan, Ravi

    2007-01-01

    Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited. PMID:17498282

  5. Genealogy of periodic trajectories

    SciTech Connect

    de Adguiar, M.A.M.; Maldta, C.P.; de Passos, E.J.V.

    1986-05-20

    The periodic solutions of non-integrable classical Hamiltonian systems with two degrees of freedom are numerically investigated. Curves of periodic families are given in plots of energy vs. period. Results are presented for this Hamiltonian: H = 1/2(p/sub x//sup 2/ + p/sub y//sup 2/) + 1/2 x/sup 2/ + 3/2 y/sup 2/ - x/sup 2/y + 1/12 x/sup 4/. Properties of the families of curves are pointed out. (LEW)

  6. Periodic boundary conditions

    NSDL National Science Digital Library

    Iacovella, Christopher R.

    2006-09-24

    Schematic of periodic boundary conditions. When using periodic boundary conditions, a particle which exits the system on the right, will reappear on the left. In the schematic, our simulation volume is colored in red. As the yellow particle exits on the right, it will re-enter on the left. This can be thought of as having identical simulation boxes surrounding the system. As the yellow particle enters the next simulation on the right, a particle from the periodic image on the left will enter.

  7. A micropuncture study of renal sodium retention in nephrotic syndrome in rats: Evidence for increased resistance to tubular fluid flow

    Microsoft Academic Search

    Shigeomi Kuroda; Hagop S Aynedjian; Norman Bank

    1979-01-01

    A micropuncture study of renal sodium retention in nephrotic syndrome in rats: Evidence for increased resistance to tubular fluid flow. Micropuncture studies were carried out in surface nephrons of rats with nephrotoxic-serum (NTS) -induced nephrotic syndrome during a period of active sodium and water retention. It was found that hydrostatic pressure and tubular diameter were increased in the proximal tubules

  8. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation

    Microsoft Academic Search

    M D King; J Dudgeon; J B Stephenson

    1984-01-01

    Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had

  9. Stage transitioning in the sensorimotor development of Down's syndrome infants.

    PubMed

    Dunst, C J

    1988-10-01

    The relative amount of time necessary to move from stage-to-stage during the sensorimotor period was examined among a group of 30 Down's syndrome and 12 non-retarded infants. Stage transitioning was examined for the four transitional points between Stages II and VI for the seven branches of sensorimotor development on the Uzgiris-Hunt scales. The findings showed that the Down's syndrome infants generally took longer to move from one stage to the next even after their slower pace of development was taken into consideration. PMID:2974084

  10. Nonarteritic ischemic optic neuropathy developed after capsular block syndrome

    PubMed Central

    Hurmeric, Volkan; Bayer, Atilla; Durukan, Ali H; Mutlu, Fatih M

    2014-01-01

    A 65-year-old man developed capsular block syndrome in the early postoperative period, following phacoemulsification surgery. After neodymium-doped yttrium aluminum garnet (Nd:YAG) laser anterior capsulotomy, the intraocular pressure remained elevated for 4 days despite antiglaucomatous medication. On the postoperative fifth day, nonarteritic ischemic optic neuropathy was diagnosed. To the best of our knowledge, this is the first report of a case with nonarteritic ischemic optic neuropathy associated with early postoperative capsular block syndrome after phacoemulsification surgery. PMID:23619487

  11. Primary and secondary dystonic syndromes: an update

    PubMed Central

    Charlesworth, Gavin; Bhatia, Kailash P.

    2013-01-01

    Purpose of review The dystonias are a common but complex group of disorders that show considerable variation in cause and clinical presentation. The purpose of this review is to highlight the most important discoveries and insights from across the field over the period of the past 18 months. Recent findings Five new genes for primary dystonia (PRRT2, CIZ1, ANO3, TUBB4A and GNAL) have made their appearance in the literature. New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. At the same time, the phenotypes of other forms of dystonic syndromes have been expanded or linked together. Finally, there has been increasing recognition of both the extramotor phenotype in dystonia and the part played by the cerebellum in its pathophysiology. Summary Recently, there has been unprecedented change in the scientific landscape with respect to the cause of various dystonic syndromes that is likely to make a direct impact on clinical practice in the near future. Understanding the genetic cause of these syndromes and the often wide phenotypic variation in their presentations will improve diagnosis and treatment. With time, these discoveries may also lead to much-needed progress in elucidating the underlying pathophysiology of dystonia. PMID:23757263

  12. MADS for periodic variables

    E-print Network

    Sébastien Le Digabel

    2009-05-19

    May 19, 2009 ... The effect of the treatment of periodic variables presented in this paper can be visualized in. Figure 5, that ... In all the numerical experiments conducted here, the new ... To appear in SIAM Journal on Optimization, 2009.

  13. The Cretaceous Period

    NSDL National Science Digital Library

    This resource discusses notable facts about the Cretaceous Period, the last portion of the "Age of Dinosaurs". The site covers Ceratopsians, such as the Tricerotops. It includes sections on stratigraphy, ancient life, localities and tectonics.

  14. Periodic multiresolution Lubeck, Germany

    E-print Network

    Potts, Daniel

    Periodic multiresolution J. Prestin L¨ubeck, Germany prestin@math.uni-luebeck.de One of the basic ideas of multiresolution and wavelet analysis consists in the investigation of shift-invariant function

  15. Interactive Periodic Table

    NSDL National Science Digital Library

    This interactive Periodic Table (application/applet) has been designed as a learning tool to help the beginning high school or undergraduate chemistry student gain insight. It could be used either as a lecture aid or distributed to students.

  16. Fourier series and periodicity

    E-print Network

    Donal F. Connon

    2014-12-07

    A large number of the classical texts dealing with Fourier series more or less state that the hypothesis of periodicity is required for pointwise convergence. In this paper, we highlight the fact that this condition is not necessary.

  17. Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's

    E-print Network

    Butterworth, Brian

    Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus. Rather, the development process itself must be taken into account. Keywords: Williams syndrome, Down

  18. Periodical Cicada Page

    NSDL National Science Digital Library

    Cooley, John

    This site, from the University of Michigan's Museum of Zoology, provides a variety of short information entries about periodical cicadas including photos, and song clips. Information about cicada life cycles, broods and distribution, behavior, various species, and diseases and deformities can also be found here. For you "on the go types" who need basic information right now, there link to the "Quick periodical cicada FAQ."

  19. Effects of periodic discharges

    NASA Technical Reports Server (NTRS)

    Ford, F. E.

    1977-01-01

    Periodic capacity checks are assessed as well as the effects of periodic discharges on the cycle life and the performance of cells during the cycle life. Topics discussed include the effect of the amount of electrolyte on cell capacity at 35 C; battery design for spacecraft; electrolyte starvation theory; battery separator degradation; negative electrode stability; voltage regulation; operating temperatures; and integration of reconditioning systems using microprocessors.

  20. [Nephrotic syndrome in a female patient with Rapunzel syndrome].

    PubMed

    Umbetalina, N S; Turgunov, E M; Turgunova, L G; Baesheva, T A; Bacheva, I V

    2014-01-01

    The Rapunzel syndrome is a rare complication of gastric trichobezoar, which may be long insidious. Systemic hair eating gradually leads to bezoar growth, gastritis, gastric mucosal ulcerations, and evacuatory disorders. The Rapunzel syndrome may cause acute and chronic bowel obstruction, peritonitis, pancreatitis, appendicitis, anemia, hypoalbuminemia, and allergic manifestations. Neither proteinuria nor nephrotic syndrome is depicted in any of the 38 Rapunzel syndrome cases described in the literature. The authors present the first case of gastric trichobezoar extending to the small bowel (its total length was 118 cm), which gave rise to chronic recurrent partial bowel obstruction, causing intoxication nephrotic syndrome in a 20-year-old women with trichotillomania. The nephrotic syndrome became a reason for her admission to a nephrology department and had specific features: it was unaccompanied by hypercholesterolemia, it rapidly regressed and completely disappeared after surgical removal of the trichobezoar weighing 1980 g. PMID:25804045