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Periodic Fever Syndromes  

Microsoft Academic Search

The periodic syndromes represent a heterogeneous group of disorders that can be very difficult for practicing physicians to\\u000a diagnosis and treat. This article presents an orderly approach to hyperimmunoglobulin D syndrome; tumor necrosis factor receptor-1\\u000a periodic syndrome; familial Mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome;\\u000a and cryopyrin-associated periodic syndromes by highlighting the disease presentation, diagnosis, pathogenesis,

Zachary Jacobs; Christina E. Ciaccio



[Periodic fever syndromes].  


Periodic fever syndromes comprise a group of disorders characterized by attacks of seemingly unprovoked inflammation. The genetic causes of five hereditary autoinflammatory syndromes have been identified in the last few years: familial Mediterranean fever, the cryopyrinopathies [Muckle-Wells, chronic infantile neurological, cutaneous, articular syndrome (CINCA) and familial autoinflammatory syndromes], TNF-receptor associated periodic syndrome, cyclic neutropenia syndrome and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The study of periodic fever syndromes has progressed from clinical characterization to genetic analysis and to the definition of the functional defects linking genes or domains to apoptotic proteins and signal transduction pathways. This new research opens the way for more specific treatment options with a further improvement in prognosis and outcome. PMID:17072571

Huemer, C; Huemer, M



Neurofibromatosis type 1 associated with dysplastic nevus syndrome.  


Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that primarily affects the development and growth of neural cell tissues. It causes tumors to grow on nerves and produces other abnormalities such as skin changes and bone deformities. Dysplastic nevus syndrome (DNS) represents multiple atypical nevi associated with polygenetic inheritance pattern and may rarely occur together with NF-1. DNS type A is a marker of increased melanoma risk, while melanoma has been rarely reported in patients with NF-1. We describe a case of NF-1 type A with DNS presenting with multiple neural tumors, cafe-au-lait spots, hamartomas in globus pallidus and pigmented melanocytic iris hamartomas (Lisch nodules). The importance of close follow up of nevi in such patients with NF-1 and DNS for the development of melanoma as well as other NF-1 associated skin disorders and with multidisciplinary approach to other associated diseases is highlighted. PMID:19595268

Pastar, Zrinjka; Lipozenci?, Jasna; Kovacevi?, Suzana; Canovi?, Samir; Didovi?-Torbarina, Ana; Vukasovi?, Anamarija



[Periodic fever syndrome/autoinflammatory syndrome].  


Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

Kötter, I; Schedel, J; Kümmerle-Deschner, J B



Diagnostic difficulties in periodic Cushing's syndrome.  

PubMed Central

A 22-year-old black woman presented with symptoms suggestive of Cushing's syndrome three years after chemotherapy for a presumed teratoma with cervical lymphadenopathy. Initially, the absence of clinical signs and the demonstration of two normal 24 h urinary free cortisols appeared to exclude the diagnosis, but an ectopic adrenocorticotropin-producing thymic carcinoid was subsequently removed surgically. Cushing's syndrome due to ectopic adrenocorticotropin production can be difficult to diagnose, particularly if there is periodic hormonogenesis. Images Figure 1 Figure 2 PMID:9338031

Walker, A. B.; Leese, G. P.; Vora, J. P.



Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome  

Microsoft Academic Search

Background—Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozygous mutations in 3 potassium channel genes, KVLQT1, KCNE1(minK), and HERG, and the cardiac sodium channel gene SCN5A cause autosomal dominant

Qiuyun Chen; Danmei Zhang; Robert L. Gingell; Arthur J. Moss; Carlo Napolitano; Silvia G. Priori; Peter J. Schwartz; Eileen Kehoe; Jennifer L. Robinson; Eric Schulze-Bahr; Qing Wang; Jeffrey A. Towbin



Coexistent tumor necrosis factor receptor–associated periodic fever syndrome and Ehlers–Danlos syndrome  

Microsoft Academic Search

A 32-year-old Caucasian woman had periodic fevers, skin disease, polyarthralgia and hypermobile joints that were consistent\\u000a with tumor necrosis factor receptor–associated periodic fever syndrome confirmed with a finding of R92Q missense mutation\\u000a of the TNFRSFA1 gene with Ehlers–Danlos hypermobility type syndrome. They are both autosomal dominant disorders, and their\\u000a coexistence suggests that they could share some phenotypic features that may

Qingping Yao; Lan Zhou; Kenneth J. Tomecki


The Period of PURPLE Crying to Prevent Shaken Baby Syndrome  

Microsoft Academic Search

Shaken baby syndrome (SBS) is defined as inflicted brain trauma in an infant as a caregiver reaction to persistent crying, and is associated with negative complications. Prior intervention programs have proven effective in reducing SBS. The purpose of this project was to perform a comprehensive literature review to determine if the prevention program of “The Period of PURPLE Crying” reduces

Abby Branderhorst



Coexistent tumor necrosis factor receptor-associated periodic fever syndrome and Ehlers-Danlos syndrome.  


A 32-year-old Caucasian woman had periodic fevers, skin disease, polyarthralgia and hypermobile joints that were consistent with tumor necrosis factor receptor-associated periodic fever syndrome confirmed with a finding of R92Q missense mutation of the TNFRSFA1 gene with Ehlers-Danlos hypermobility type syndrome. They are both autosomal dominant disorders, and their coexistence suggests that they could share some phenotypic features that may require special consideration in management. Conceivably, they could share common gene mutations although no such data are available. PMID:21785959

Yao, Qingping; Zhou, Lan; Tomecki, Kenneth J



[A new type of periodic paralysis: Andersen-Tawil syndrome].  


Andersen-Tawil syndrome includes a clinical triad consisting of periodic paralysis, cardiac arrhythmia, and usually mild but diagnostically useful dysmorphic features. This potassium channelopathy is due to mutation of the KCNJ2 gene encoding the protein Kir 2.1. The main muscular manifestation is periodic paralysis, usually of the hypokalemic type. Muscle biopsy may reveal tubular aggregates or be normal, as in our patient. Cardiac manifestations are variable and may include a long QT syndrome, premature ventricular contractions, complex ventricular ectopy, and polymorphic or bidirectional ventricular tachycardia. Imipramine therapy had a positive effect on arrhythmia in our patient. Dysmorphic features provide a diagnostic clue but may be difficult to identify and should thus be methodically sought. Clinical expression is variable, even within the same family. Since the culprit gene KCNJ2 was identified, locus heterogeneity has been shown in Andersen-Tawil syndrome. Kindreds without KCNJ2 mutations are clinically indistinguishable from those with mutations. Kir2.1 is an inward rectifier K+ channel with important roles in maintaining membrane potential and during the terminal phase of cardiac action potential repolarization. Several studies show a dominant negative effect of KCNJ2 mutation on Kir 2.1 channel function. PMID:19445372

Pouget, Jean



Ropinirole in restless legs syndrome and periodic limb movement disorder  

PubMed Central

Restless legs syndrome and periodic limb movement disorder of sleep are now recognized as prevalent, distinct, yet overlapping disorders affecting all age groups. Although delineation of the mechanisms underlying these disorders continues to be the focus of very intense research efforts, it has become apparent that there is a prominent role for dopaminergic agents in the clinical management of these patients. Among the various dopaminergic drugs, ropinirole has undergone relatively intense and critical scrutiny, and appears to provide a safe and efficacious treatment option for patients with these two conditions. The more recent development of a controlled formulation for this drug is likely to yield additional benefits such as improved adherence and reduced fluctuations in daytime and nighttime symptoms. However, there is not enough evidence at this time to support such assumption. PMID:20421915

Erichsen, Daniel; Ferri, Raffaelle; Gozal, David



Benign and periodic movement disorders in 2 children with down syndrome.  


Children with Down syndrome show hypotonia and ligamentous laxity that are associated with motor development delay. Neurologic disorders are common in children with Down syndrome; however, in literature the presence of periodic movement disorders has not yet been described. We report 2 different types of periodic movement disorders in 2 infants with Down syndrome. In the first case, we described an 8-month-old girl with involuntary head nodding and absence of any other neurologic or ophthalmologic abnormalities. In the second case, we described a 6-month-old boy with abnormal but painless head rotation and inclination, alternating from side to side. Episodes of head tilting were often associated with a state of general uneasiness. Neurologic examination between attacks was normal. The aim of this paper is to provide practical information on recognition and management of movement disorders in Down syndrome. PMID:24309245

Purpura, Giulia; Bozza, Margherita; Bargagna, Stefania



A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children  

Microsoft Academic Search

Objective. To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflam- matory syndromes. Methods. A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diag-

M. Gattorno; M. P. Sormani; A. D'Osualdo; M. A. Pelagatti; F. Caroli; S. Federici; M. Cecconi; N. Solari; A. Meini; F. Zulian; L. Obici; L. Breda; S. Martino; A. Tommasini; G. Bossi; A. Govers; I. Touitou; P. Woo; J. Frenkel; I. Koné-Paut; M. Baldi; I. Ceccherini; A. Martini



Complex exercise rehabilitation program for women of the II period of age with metabolic syndrome.  


The purpose of this study was to develop a complex exercise program integrating Eastern and Western complex exercise rehabilitation programs in order to examine the effects of it on the human body with the subjects for women of the II period of mature age with metabolic syndrome. The subjects of this study are 60 II period of mature aged women with metabolic syndrome living in G City, and the experimental group conducted Taekwon-aerobic exercise, European rehabilitation gymnastics, gym ball exercise, and elastic band exercise while the control group performed European rehabilitation gymnastics, gym ball exercise, and elastic band exercise which is the rehabilitation program being presently conducted in Russia, for 90 min per day for three weeks. Two-way ANOVA with repeated measures was utilized to verify pre and post-intergroup difference, and the significant level was set as P< 0.05. Whereas body weight, % fat, WHR, SBP, DBP and blood glucose were significant decreased, muscle weight and pulse wave velocity were significant increased after complex exercise rehabilitation programs Both Eastern and Western complex exercise rehabilitation programs showed positive effects on the body of the II period of mature aged women with metabolic syndrome, and if various exercise programs are conducted, it will be more effective in improving II period of mature aged women's metabolic syndrome afterwards. PMID:24278877

Lee, Eun-Ok; Olga, Kozyreva



Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.  


Hyperimmunoglobulinemia D/periodic fever syndrome is caused by recessively inherited mutations in the mevalonate kinase gene and is characterized by persistently high polyclonal serum IgD titre and recurrent febrile attacks. No conventional therapy exists for preventing the typical recurrent inflammatory picture of patients. A host of studies have evidenced that elevated levels of various cytokines, such as interleukin-1 (IL-1), mark febrile attacks in this disease and that IL-1 might represent a suitable therapeutic target. We describe the case of a 7-year-old female-child with an established diagnosis of hyperimmunoglobulinemia D/periodic fever syndrome in whom anakinra, IL-1 receptor antagonist, was daily administered at the dosage of 1 mg/kg/day by subcutaneous injection for 18 months after numerous disappointing attempts with non-steroidal anti-inflammatory drugs, steroids, colchicine and etanercept through the years. The clinical response under anakinra treatment was recorded through a standardized diary, whilst inflammation parameters were serially measured in comparison with the half-year before starting anakinra. Frequency and severity of fever attacks were totally reduced by anakinra and this is the first child demonstrating that symptoms of hyperimmunoglobulinemia D/periodic fever syndrome might be at least extenuated by anakinra, though not abolished. PMID:16871408

Rigante, Donato; Ansuini, Valentina; Bertoni, Barbara; Pugliese, Anna Lisa; Avallone, Laura; Federico, Gilda; Stabile, Achille



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

ERIC Educational Resources Information Center

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…

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



Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.  


Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of the syndrome is variable and the clinical scenery is characterized by recurrent episodes of high-grade fever that typically lasts 1-3 weeks, associated with migrating myalgia, pseudocellulitis, diffuse abdominal pain, appendicitis-like findings, ocular inflammatory signs, and risk of long-term amyloidosis. Fever episodes are responsive to high-dose corticosteroids, but different classes of drugs have been reported to be ineffective. The use of etanercept is unable to control systemic inflammation, while interleukin-1 blockade has been shown as effective in the control of disease activity in many patients reported so far. PMID:24935411

Rigante, Donato; Lopalco, Giuseppe; Vitale, Antonio; Lucherini, Orso Maria; De Clemente, Caterina; Caso, Francesco; Emmi, Giacomo; Costa, Luisa; Silvestri, Elena; Andreozzi, Laura; Iannone, Florenzo; Galeazzi, Mauro; Cantarini, Luca



Periodic leg movements during sleep in narcoleptic patients with or without restless legs syndrome.  


We compared periodic and non-periodic leg movements during sleep and polysomnography in patients with narcolepsy with cataplexy (NC) with or without restless legs syndrome (RLS) with matched idiopathic RLS (iRLS) and control subjects. We enrolled 100 patients with NC: 17 having RLS were compared with 34 sex- and age-matched patients without RLS and with 17 normal controls and 17 iRLS subjects. Periodic leg movements were highest in iRLS and lowest in controls, with those in NC with RLS very close to iRLS, but higher than those in NC without RLS. The periodicity indexes showed the highest value in iRLS followed by NC with or without RLS and, finally, by controls. The inter-leg movement intervals peaked between 10 and 50?s in NC with RLS and in iRLS, the former did not display the nocturnal gradual decrease of periodic leg movements typical of iRLS. Periodic leg movements during sleep and polysomnography displayed specific features in RLS and NC, respectively, with NC with RLS showing an intermediate pattern. Even if RLS is only detected by targeted interview in NC, its frequency and impact on night-time sleep architecture and continuity suggest that this condition should be routinely searched for in NC. PMID:21827556

Plazzi, Giuseppe; Ferri, Raffaele; Franceschini, Christian; Vandi, Stefano; Detto, Stefania; Pizza, Fabio; Poli, Francesca; De Cock, Valérie C; Bayard, Sophie; Dauvilliers, Yves



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

PubMed Central

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

Haug, Iris



[Secondary abdominal compartment syndrome in postoperative period in patients with tumors of sellar region].  


The abdominal compartment syndrome (ACS) can lead to multiple organ dysfunction syndrome (MODS), sepsis and death. In neurosurgical patients ACS used to be interesting for specialists only in respect of its impact on ICP. However injury of diencephalic structures of the brain can theoretically cause ACS. The goal of the study is to assess the efficacy of conservative therapy and epidural anesthesia for ACS treatment in postoperative period in patients with tumors of the sellar region. 41 patients were enrolled in the study. The epidural anesthesia at T8-T9 level by bupivacaine was applied for three days in the case of ACS development and ineffective conservative therapy. Intra-abdominal hypertension (IAH) developed in 28 cases, ACS - in 9. IAN usually revealed itself on the second day after surgery, ACS - on the 3rd-6th day. Gastrointestinal tract paralysis developed earlier than IAH and continued longer than IAH. Conservative therapy was effective only in every third patient with ACS. Epidural anesthesia was used in 4 cases and appeared effective in all of them. All patients with ACS not provided by epidural anesthesia died. We conclude that conservative therapy is effective in IAH, but not in ACS cases. Epidural anesthesia is an effective method to treat ACS and should be used in all patients with ACS without sepsis. PMID:21957619

Popugaev, K A; Savin, I A; Goriachev, A S; Oshorov, A V; Polupan, A A; Luk'ianov, V I; Lubnin, A Iu



Tumor Necrosis Factor Receptor-associated Periodic Syndrome, A Rare Cause of Fever of Unknown Origin  

PubMed Central

Introduction: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant auto-inflammatory disease characterized by recurrent episodes of fever and localized sites of inflammation. We report a case of a young man who was diagnosed with fever of unknown origin (FUO) until he developed acceleration of fevers, myocarditis, pericarditis with tamponade, septic shock-like syndrome, and ischemic small bowel. Case Report: A 19-year-old Japanese man presented with recurrent severe fevers for two years, associated with myalgias and sore throat. He was initially diagnosed with adult-onset Still's disease (AOSD). The fevers, as high as 106 degrees Fahrenheit, varied from several times per day to several times per month and did not respond to naproxen or colchicine. He was completely asymptomatic between each episode. The severity and frequency of his symptoms were such that he dropped out of college and all athletic activities. Subsequently, he developed acute myocarditis with hypotension. Shortly afterwards he developed acute pericarditis with tamponade associated with bilateral pleural effusions, requiring pericardial window and thoracentesis. Both conditions rapidly resolved with high dose steroid therapy. Infectious disease workup and autoimmune serologies were all negative. Bone marrow aspiration and bone scan were negative for malignancy. Every episode was characterized by severe leukocytosis and elevated acute phase reactants including ferritin. We diagnosed him with TRAPS based on fever pattern and a lack of typical AOSD rash. He was started on etanercept in addition to high dose steroid. However, he still developed intermittent fevers associated with erythematous papules involving the extremities and trunk. Three weeks later, he developed epigastric pain, vomiting, and septic shock-like syndrome. Following these events, he developed severe bloody diarrhea secondary to ischemic jejunitis and ileitis. High dose steroid partially relieved his symptoms. After infectious causes were excluded, etanercept was changed to an interleukin-1 receptor antagonist. His symptoms have completely resolved and he has been tapered off steroids. He has been able to return to school and running. TNFRSF1A gene sequencing was negative for known mutations. However, the rate of detection of auto-inflammatory gene mutations is reported to be low. The negative genetic test does not necessarily exclude this condition. His case is likely sporadic with no family history. Discussion: A high index of suspicion for TRAPS is needed to diagnose and promptly treat patients who present with severe recurrent fevers after exclusion of infectious diseases, autoimmune disorders, and malignancies. Delay in diagnosis can lead to serious, life-threatening complications. Treatment can be difficult and currently interleukin-1 receptor antagonist has the best efficacy. For this patient, recognition of the disease and appropriate treatments had great impact on preservation and quality of life.

Bello, Erlaine F; Arakawa, Ken C



Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome  

Microsoft Academic Search

BACKGROUND: This study aimed to profile levels of blood cells and serum cytokines during afebrile and febrile phases of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to advance pathophysiological understanding of this pediatric disease. METHODS: A cohort of patients with a median age of 4.9 years experiencing 'typical PFAPA' episodes participated in this study. Blood cells and serum

Kelly L Brown; Per Wekell; Veronica Osla; Martina Sundqvist; Karin Sävman; Anders Fasth; Anna Karlsson; Stefan Berg




PubMed Central

Background: Clinicians are constantly faced with the challenge of designing training programs for injured and noninjured athletes that maximize healing and optimize performance. Periodization is a concept of systematic progression—that is, resistance training programs that follow predictable patterns of change in training variables. The strength training literature is abundant with studies comparing periodization schemes on uninjured, trained, and untrained athletes. The rehabilitation literature, however, is scarce with information about how to optimally design resistance training programs based on periodization principles for injured athletes. The purpose of this review is to discuss relevant training variables and methods of periodization, as well as periodization program outcomes. A secondary purpose is to provide an anecdotal framework regarding implementation of periodization principles into rehabilitation programs. Evidence Acquisition: A Medline search from 1979 to 2009 was implemented with the keywords periodization, strength training, rehabilitation, endurance, power, hypertrophy, and resistance training with the Boolean term AND in all possible combinations in the English language. Each author also undertook independent hand searching of article references used in this review. Results: Based on the studies researched, periodized strength training regimens demonstrate improved outcomes as compared to nonperiodized programs. Conclusions: Despite the evidence in the strength training literature supporting periodization programs, there is a considerable lack of data in the rehabilitation literature about program design and successful implementation of periodization into rehabilitation programs. PMID:23015982

Lorenz, Daniel S.; Reiman, Michael P.; Walker, John C.




NSDL National Science Digital Library

In thinking about a title for this chapter, the word periodicity came to mind. I was sure this had some kind of pop culture reference. After discussing this with my wife, we figured I was thinking of synchronicity, which is a reference to music by the band, The Police. Looking the word Periodicity up on the internet, I found that I was, in fact, a science geek and had not made a hip reference. Periodicity refers mainly to the Periodic Table, which is a focus of this chapter. No music, just science.

Robertson, William C.



Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.  


Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Diagnostic hallmark of HIDS is a constitutively elevated level of serum immunoglobulin D (IgD), although patients have been reported with normal IgD levels. To determine the underlying defect in HIDS, we analysed urine of several patients and discovered increased concentrations of mevalonic acid during severe episodes of fever, but not between crises. Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis. Sequence analysis of MVK cDNA from the patients identified three different mutations, one of which was common to all patients. Expression of the mutant cDNAs in Escherichia coli showed that all three mutations affect the activity of the encoded proteins. Moreover, immunoblot analysis demonstrated a deficiency of MK protein in patient fibroblasts, indicating a protein-destabilizing effect of the mutations. PMID:10369261

Houten, S M; Kuis, W; Duran, M; de Koning, T J; van Royen-Kerkhof, A; Romeijn, G J; Frenkel, J; Dorland, L; de Barse, M M; Huijbers, W A; Rijkers, G T; Waterham, H R; Wanders, R J; Poll-The, B T



Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).  


Cryopyrin-associated periodic syndrome (CAPS) is characterized by dysregulated inflammation with excessive interleukin (IL)-1? activation and secretion. Neonatal-onset multi-system inflammatory disease (NOMID) is the most severe form. We explored cytokine responses in 32 CAPS patients before and after IL-1? blocking therapy. We measured cytokines produced by activated peripheral blood monuclear cells (PBMCs) from treated and untreated CAPS patients after stimulation for 48?h with phytohaemagglutinin (PHA), PHA plus IL-12, lipopolysaccharide (LPS) or LPS plus interferon (IFN)-?. We measured IL-1?, IL-6, IL-10, tumour necrosis factor (TNF), IL-12p70 and IFN-? in the supernatants. PBMCs from three untreated CAPS patients were cultured in the presence of the IL-1? blocker Anakinra. Fifty healthy individuals served as controls. CAPS patients had high spontaneous production of IL-1?, IL-6, TNF and IFN-? by unstimulated cells. However, stimulation indexes (SIs, ratio of stimulated to unstimulated production) of these cytokines to PHA and LPS were low in NOMID patients compared to controls. Unstimulated IL-10 and IL-12p70 production was normal, but up-regulation after PHA and LPS was also low. LPS plus IFN-? inadequately up-regulated the production of IL-1?, IL-6, TNF and IL-10 in CAPS patients. In-vitro but not in-vivo treatment with Anakinra improved SIs by lowering spontaneous cytokine production. However, in-vitro treatment did not improve the low stimulated cytokine levels. Activating mutations in NLRP3 in CAPS are correlated with poor SIs to PHA, LPS and IFN-?. The impairment in stimulated cytokine responses in spite of IL-1? blocking therapy suggests a broader intrinsic defect in CAPS patients, which is not corrected by targeting IL-1?. PMID:24773462

Haverkamp, M H; van de Vosse, E; Goldbach-Mansky, R; Holland, S M



A case of adult periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome associated with endocapillary proliferative glomerulonephritis  

Microsoft Academic Search

PFAPA is an acronym for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. This syndrome has been usually\\u000a described in pediatric patients and it generally resolves spontaneously. The endocapillary proliferative glomerulonephritis\\u000a (EPG) is a glomerular injury characterized by hypercellularity in glomerular lumen and is caused by post-infectious or autoimmune\\u000a diseases. In this paper, we describe the case of a 35-year-old

Massimiliano Cazzato; Rossella Neri; Niccolo Possemato; Rodolfo Puccini; Stefano Bombardieri


A case of adult periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome associated with endocapillary proliferative glomerulonephritis.  


PFAPA is an acronym for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. This syndrome has been usually described in pediatric patients and it generally resolves spontaneously. The endocapillary proliferative glomerulonephritis (EPG) is a glomerular injury characterized by hypercellularity in glomerular lumen and is caused by post-infectious or autoimmune diseases. In this paper, we describe the case of a 35-year-old man affected by PFAPA and EPG. To our knowledge this association has never been reported in the literature before. PMID:20225048

Cazzato, Massimiliano; Neri, Rossella; Possemato, Niccolo; Puccini, Rodolfo; Bombardieri, Stefano



Hematologic changes in Down's syndrome during infantile and early childhood period.  


"Twenty cases of Down's syndrome and 25 age-matched normal controls were subjected to hematologic study including Hb, R.B.Cs, W.B.Cs., HbF., bone marrow, protein electrophoresis and chromosomal study. Peripheral blood and bone marrow showed noticeable increase in granulocytes, increase in staff, and decrease in lymphocytes in mongols as compared to the controls. HbF was lower than normal in 18 cases. The other two showed abnormally high HbF. Protein electrophoretic study showed normal pattern except one case in which a remarkable decrease in the Beta and Gamma Fraction was noticed". PMID:145981

Abdel-Salam, E; Aboul-Enein, M; Kotb, A; Elseify, M; Abul-Hassan, A; Ishaac, S



Review of the Relationship of Restless Legs Syndrome and Periodic Limb Movements in Sleep to Hypertension, Heart Disease, and Stroke  

PubMed Central

Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperactivity associated with RLS/PLMS may lead to daytime hypertension that in turn leads to heart disease and stroke; (b) in the absence of daytime hypertension, this sympathetic hyperactivity may predispose to heart disease and stroke either directly or indirectly via atherosclerotic plaque formation and rupture; and (c) comorbidities associated with RLS/PLMS, such as renal failure, diabetes, iron deficiency, and insomnia, may predispose to heart disease and stroke. One theoretical cause for sympathetic hyperactivity is insufficient A11 diencephalospinal dopaminergic neuron inhibition of sympathetic preganglionic neurons residing in the intermediolateral cell columns of the spinal cord. We cannot exclude the possibility that peripheral vascular, cardiovascular, and cerebrovascular disease may also contribute to RLS/PLMS, and mechanisms for these possibilities are also discussed. Citation: Walters AS; Rye DB. Review of the relationship of restless legs syndrome and periodic limb movements in sleep to hypertension, heart disease, and stroke. SLEEP 2009;32(5):589-597. PMID:19480225

Walters, Arthur S.; Rye, David B.



Nutrition Algorithms for Infants with Hypoplastic Left Heart Syndrome; Birth through the First Interstage Period  

PubMed Central

Failure to thrive is common in infants with hypoplastic left heart syndrome and its variants and those with poor growth may be at risk for worse surgical and neurodevelopmental outcomes. The etiology of growth failure in this population is multifactorial and complex, but may be impacted by nutritional intervention. There are no consensus guidelines outlining best practices for nutritional monitoring and intervention in this group of infants. The Feeding Work Group of the National Pediatric Cardiology Quality Improvement Collaborative performed a literature review and assessment of best nutrition practices from centers participating in the collaborative in order to provide nutritional recommendations and levels of evidence for those caring for infants with single ventricle physiology. PMID:22891735

Slicker, Julie; Hehir, David A.; Horsley, Megan; Monczka, Jessica; Stern, Kenan W.; Roman, Brandis; Ocampo, Elena C.; Flanagan, Liz; Keenan, Erin; Lambert, Linda M.; Davis, Denise; Lamonica, Marcy; Rollison, Nancy; Heydarian, Haleh; Anderson, Jeffrey B.



Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients  

Microsoft Academic Search

Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoin- flammatory disorders in which the major- ity of patients have mutations in the cold- induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistin- guishable clinical features, some patients lack CIAS1 mutations by conventional nucleotide sequencing. We recently re- ported a CAPS patient with mosaicism of mutant CIAS1, and raised the possibility

Megumu Saito; Ryuta Nishikomori; Naotomo Kambe; Akihiro Fujisawa; Hideaki Tanizaki; Kyoko Takeichi; Tomoyuki Imagawa; Tomoko Iehara; Hidetoshi Takada; Tadashi Matsubayashi; Hiroshi Tanaka; Hisashi Kawashima; Kiyoshi Kawakami; Shinji Kagami; Ikuo Okafuji; Takakazu Yoshioka; Souichi Adachi; Toshio Heike; Yoshiki Miyachi; Tatsutoshi Nakahata



Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases.  


Autophagy prevents cellular damage by eliminating insoluble aggregates of mutant misfolded proteins, which accumulate under different pathological conditions. Downregulation of autophagy enhances the inflammatory response and thus represents a possible common pathogenic event underlying a number of autoinflammatory syndromes, such as tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS). The pathogenesis of other monogenic or complex disorders that display symptoms of excessive inflammation also involve the autophagy pathway. Studies have shown that TRAPS-associated TNFRSF1A mutations induce cytoplasmic retention of the TNFR1 receptor, defective TNF-induced apoptosis, and production of reactive oxygen species (ROS). Furthermore, autophagy impairment may account for the pathogenic effects of TNFRSF1A mutations, thus inducing inflammation in TRAPS. In this review, we summarize the molecular interactions and functional links between autophagy with regard to nuclear factor-kappa B activation, ROS production, and apoptosis. Furthermore, we propose a complex interplay of these pathways as a model to explain the relationship between mutant protein misfolding and inflammation in genetically determined and aggregation-prone diseases. Accordingly, autophagy function should be investigated in all diseases showing an inflammatory component, and for which the molecular pathogenesis is still unclear. PMID:24706103

Bachetti, Tiziana; Ceccherini, Isabella



A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)  

PubMed Central

Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified. Median age at presentation was 2 months. Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1 g/dL) and markedly microcytic (median mean corpuscular volume, 62.0 fL). Clinical course involved recurrent febrile illness and gastrointestinal disturbance, lacking an infective cause. Investigation revealed B-cell lymphopenia (CD19+ range, 0.016-0.22 × 109/L) and panhypogammaglobulinemia in most cases. Children displayed developmental delay alongside variable neurodegeneration, seizures, cerebellar abnormalities, sensorineural deafness, and other multisystem features. Most required regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Median survival was 48 months, with 7 deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations. We describe and define a novel CSA and B-cell immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. The molecular etiology is under investigation. PMID:23553769

May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M.; Giardina, Patricia J.; Klaassen, Robert J.; Chakraborty, Pranesh; Geraghty, Michael T.; Major-Cook, Nathalie; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A.; Marques, Laura; Hughes, Stephen; Bonney, Denise K.; Bottomley, Sylvia S.; Fleming, Mark D.; Wynn, Robert F.



First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).  


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 1(st) 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

Lucherini, Orso Maria; Obici, Laura; 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



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

PubMed Central

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

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



Clinical and Molecular Epidemiological Features of Hemorrhagic Fever with Renal Syndrome in Korea over a 10-year Period  

PubMed Central

Background Laboratory diagnosis of hemorrhagic fever with renal syndrome (HFRS), an infectious disease caused by rodent-borne hantaviruses in Asia and Europe, depends primarily on serological methods. Since the advent of such serodiagnostic tests, few reports are available about the clinical and molecular epidemiological features of HFRS. Objectives To investigate the epidemioclinical features of HFRS treated at a tertiary-care teaching hospital in Seoul over a 10-year period. Study design Medical records of HFRS patients, visited to a tertiary-care teaching hospital during February 2002 to February 2012, were reviewed. Sera from patients were tested for Hantaan virus (HTNV) and Seoul virus (SEOV) RNA using RT-PCR. Results Among 35 HFRS patients (mean age was 44.2 ± 14.7 years), 29 were male (82.9%). Acute renal failure developed in 27 patients (77.1%), and 12 patients (34.3%) were admitted to the intensive care unit (ICU). Conjunctival injection (OR 10.32, 95% CI 1.09–97.77, P = .04) and initial serum albumin less than 3 g/dL (OR 22.83, 95% CI 1.45–359.93, P = .03) were risk factors for ICU admission. Of 35 acute-phase sera, 11 (31.4%) were positive for HTNV RNA. None were positive for SEOV RNA. Conclusions HFRS was characterized by the clinical triad of fever, renal insufficiency and gastrointestinal symptoms. Conjunctival injection and serum albumin level were related to severity. Large scaled multi-center study is needed to enhance an insight to epidemioclinical characteristics of HFRS in Korea. PMID:23871164

Noh, Ji Yun; Cheong, Hee Jin; Song, Joon Young; Kim, Woo Joo; Song, Ki-Joon; Klein, Terry A; Lee, Sam H.; Yanagihara, Richard; Song, Jin-Won



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

PubMed Central

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

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



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

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

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



Clonidine Clearance Matures Rapidly During the Early Postnatal Period: A Population Pharmacokinetic Analysis in Newborns With Neonatal Abstinence Syndrome  

Microsoft Academic Search

The population pharmacokinetic (PK) profile of oral clonidine was characterized in newborns with neonatal abstinence syndrome, and significant covariates affecting its PK parameters were identified. Plasma clonidine concentration data were obtained from a clinical trial in which 36 newborns, aged 1 to 25 days (postnatal age, PNA) and weighing 2.1 to 3.9 kg, were enrolled to take multiple oral doses

Hong-Guang Xie; Ying Jun Cao; Estelle B. Gauda; Alexander G. Agthe; Craig W. Hendrix; Howard Lee



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

PubMed Central

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

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



HIV1 associated dementia: symptoms and causes  

Microsoft Academic Search

Despite the use of highly active antiretroviral therapy (HAART), neuronal cell death remains a problem that is frequently found in the brains of HIV-1-infected patients. HAART has successfully prevented many of the former end-stage complications of AIDS, however, with increased survival times, the prevalence of minor HIV-1 associated cognitive impairment appears to be rising among AIDS patients. Further, HIV-1 associated

Mohammad Ghafouri; Shohreh Amini; Kamel Khalili; Bassel E Sawaya



The most recent advances in pathophysiology and management of tumour necrosis factor receptor-associated periodic syndrome (TRAPS): personal experience and literature review.  


Tumour necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterised by recurrent episodes of long-lasting fever and inflammation in different regions of the body, as musculo-skeletal system, skin, gastrointestinal tube, serosal membranes and eye. Inflammatory attacks usually start in the pediatric age with initial corticosteroid-responsiveness. Most reported cases of TRAPS involve patients of European ancestry and diagnosis can be formulated by the combination of genetic analysis and a compatible phenotype. Its prognosis is strictly dependent on the appearance of amyloidosis, secondary to uncontrolled relapsing inflammation. Thanks to a better understanding of its pathogenesis, the disease is now managed with anti-interleukin (IL)-1 antagonists, rather than corticosteroids or tumour necrosis factor (TNF) inhibitors. The aim of this review is to describe the current understanding and advances of TRAPS genetic basis, pathogenesis and management options by integrating the most recent data in the medical literature. PMID:23899820

Magnotti, Flora; Vitale, Antonio; Rigante, Donato; Lucherini, Orso Maria; Cimaz, Rolando; Muscari, Isabella; Granados Afonso de Faria, Atila; Frediani, Bruno; Galeazzi, Mauro; Cantarini, Luca



Toxic Shock Syndrome  


... 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 ...


[Autoinflammatory syndromes/fever syndromes].  


Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I



Periodic fever, aphthous stomatitis, pharyngitis and cervical adenopathy syndrome is associated with activation of GM-CSF and burst-like expression of IL-8 in peripheral blood.  


Abstract Introduction. Periodic fever, aphthous stomatitis, pharyngitis and cervical adenopathy (PFAPA) is an autoinflammatory syndrome characterized by periodic fever with aphthous stomatitis, cervical lymphadenopathy, myalgia, and abdominal pain. Peripheral blood concentrations of selected cytokines of PFAPA patients during and between febrile episodes were analyzed in a search for PFAPA-specific molecular signature. Methods. 23 children with PFAPA (age 6.07 ± 2.94 years, range 5-9 years) and three control children with severe oropharyngeal infections (age 6.2 ± 7.95 years, range 1-17 years) participated in the study. Peripheral blood concentrations of IL-1?, IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IFN-?, GM-CSF, TNF-? were measured using Luminex technology. Results. PFAPA febrile episodes were characterized by detection of GM-CSF - 134.07 ± 315.5 pg/mL; significant (P < 0.001), compared to baseline and controls, elevation of concentrations of IL-8 (3193.7 ± 2508 pg/mL vs. 100.36 ± 119. pg/mL vs. 2.04 ± 4.08 pg/mL, respectively), IL-6 (1355.38 ± 2026.53 pg/mL vs. 28.8 ± 44.2 pg/mL and 27.13 ± 26.42 pg/mL, respectively). IL-1? was detected only in febrile and afebrile PFAPA patients (922.8 ± 1639 pg/mL vs. 10.98 ± 19.4 pg/ml, P < 0.002, respectively), but not in controls. Peripheral blood concentration of TNF? did not differ significantly between study groups. IL-2, IL-4, IL-5, and IL-10 were negligible in all study subjects. Discussion. PFAPA febrile episodes are characterized by activation of GM-CSF and IL-8 with Th1 skewing. We propose a molecular mechanism governing this phenomenon. PMID:24670131

Ling, Eduard; Israeli, Moshe; Klein, Tirza; Amir, Jacob; Harel, Liora



Retrospective Analysis of Corticosteroid Treatment in Stevens-Johnson Syndrome and/or Toxic Epidermal Necrolysis over a Period of 10 Years in Vajira Hospital, Navamindradhiraj University, Bangkok  

PubMed Central

Background. Stevens-Johnson syndrome (SJS) and/or toxic epidermal necrolysis (TEN) are uncommon and life-threatening drug reaction associated with a high morbidity and mortality. Objective. We studied SJS and/or TEN by conducting a retrospective analysis of 87 patients treated during a 10-year period. Methods. We conducted a retrospective review of the records of all patients with a diagnosis of SJS and/or TEN based on clinical features and histological confirmation of SJS and/or TEN was not available at the Department of Medicine, Vajira hospital, Bangkok, Thailand. The data were collected from two groups from 2003 to 2007 and 2008 to 2012. Results. A total of 87 cases of SJS and/or TEN were found, comprising 44 males and 43 females whose mean age was 46.5 years. The average length of stay was 17 days. Antibiotics, anticonvulsants, and allopurinol were the major culprit drugs in both groups. The mean SCORTEN on admission was 2.1 in first the group while 1.7 in second the group. From 2008 to 2012, thirty-nine patients (76.5%) were treated with corticosteroids while only eight patients (22.2%) were treated between 2003 and 2007. The mortality rate declined from 25% from the first group to 13.7% in the second group. Complications between first and second groups had no significant differences. Conclusions. Short-term corticosteroids may contribute to a reduced mortality rate in SJS and/or TEN without increasing secondary infection. Further well-designed studies are required to compare the effect of corticosteroids treatment for SJS and/or TEN. PMID:25024697

Prompongsa, Sirikarn



Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour  

PubMed Central

Tumour necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS) is a hereditary autoinflammatory disorder involving autosomal-dominant missense mutations in TNF receptor superfamily 1A (TNFRSF1A) ectodomains. To elucidate the molecular effects of TRAPS-related mutations, we transfected HEK-293 cells to produce lines stably expressing high levels of either wild-type (WT) or single mutant recombinant forms of TNFRSF1A. Mutants with single amino acid substitutions in the first cysteine-rich domain (CRD1) were produced both as full-length receptor proteins and as truncated forms lacking the cytoplasmic signalling domain (?sig). High-level expression of either WT or mutant full-length TNFRSF1A spontaneously induced apoptosis and interleukin-8 production, indicating that the mutations in CRD1 did not abrogate signalling. Consistent with this, WT and mutant full-length TNFRSF1A formed cytoplasmic aggregates that co-localized with ubiquitin and chaperones, and with the signal transducer TRADD, but not with the inhibitor, silencer of death domain (SODD). Furthermore, as expected, WT and mutant ?sig forms of TNFRSF1A did not induce apoptosis or interleukin-8 production. However, whereas the WT full-length TNFRSF1A was expressed both in the cytoplasm and on the cell surface, the mutant receptors showed strong cytoplasmic expression but reduced cell-surface expression. The WT and mutant ?sig forms of TNFRSF1A were all expressed at the cell surface, but a proportion of the mutant receptors were also retained in the cytoplasm and co-localized with BiP. Furthermore, the mutant forms of surface-expressed ?sig TNFRSF1A were defective in binding TNF-?. We conclude that TRAPS-related CRD1 mutants of TNFRSF1A possess signalling properties associated with the cytoplasmic death domain, but other behavioural features of the mutant receptors are abnormal, including intracellular trafficking and TNF binding. PMID:15312137

Todd, Ian; Radford, Paul M; Draper-Morgan, Kelly-Ann; McIntosh, Richard; Bainbridge, Susan; Dickinson, Peter; Jamhawi, Lama; Sansaridis, Marios; Huggins, Mary L; Tighe, Patrick J; Powell, Richard J



CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction  

PubMed Central

Introduction NLRP3 plays a role in sensing various pathogen components or stresses in the innate immune system. Once activated, NLRP3 associates with apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) and procaspase-1 to form a large protein complex termed inflammasome. Although some investigators have proposed a model of NLRP3-inflammasome containing an adaptor protein caspase recruitment domain-containing protein 8 (CARD8), the role of this molecule remains obscure. This study aimed to clarify the interaction between CARD8 and wild-type NLRP3 as well as mutant forms of NLRP3 linked with cryopyrin-associated periodic syndromes (CAPS). Methods In here HEK293 expression system, cells were transfected with the cDNAs for inflammasome components. Also used were peripheral blood mononuclear cells (PBMCs) and human monocyte-derived macrophages (HMDMs) from healthy volunteers. The interaction of CARD8 and NLRP3 was studied by immunoprecipitation. The effect of CARD8 expression on IL-1? secretion was assessed by ELISA. CARD8 knockdown experiments were carried out by transfection of the specific siRNA into HMDMs. Results In HEK293 cells, CARD8 interacted with wild-type NLRP3, but not with CAPS-associated mutant NLRP3. CARD8 significantly reduced IL-1? secretion from cells transfected with wild-type NLRP3, but not if they were transfected with mutant NLRP3. In addition, association of endogenously expressed CARD8 with NLRP3 was confirmed in resting PBMCs, and CARD8 knockdown resulted in higher amount of IL-1? secretion from HMDMs. Conclusions Until specific stimuli activate NLRP3, CARD8 holds NLRP3, and is supposed to prevent activation by subtle stimuli. However, CAPS-associated mutant NLRP3 is unable to bind with CARD8, which might be relevant to the pathogenesis of CAPS. PMID:24517500



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

PubMed Central

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

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



Monogenic Autoinflammatory Syndromes  

Microsoft Academic Search

\\u000a “Autoinflammatory syndromes” is the broad name given to a group of heritable conditions that initially consisted of a group\\u000a of diseases termed hereditary periodic fever syndromes. Autoinflammatory syndrome is the preferred name for these conditions, because not all of the disorders that have been added\\u000a to this class of inflammatory disorde rs present with periodic febrile episodes. In contrast to

Marco Gattorno; Alberto Martini; Raphaela Goldbach-Mansky; Pamela Aubert; Polly J. Ferguson


Proteomic Analysis Reveals Hyperactivation of the Mammalian Target of Rapamycin Pathway in Neurofibromatosis 1Associated Human and Mouse Brain Tumors  

Microsoft Academic Search

Individuals with the tumor predisposition syndrome, neuro- fibromatosis 1 (NF1), are prone to development of nervous system tumors, including neurofibromas and pilocytic astro- cytomas. Based on the ability of the NF1 gene product (neurofibromin) to function as a GTPase activating protein for RAS, initial biologically based therapies for NF1-associated tumors focused on the use of RAS inhibitors, but with limited

Biplab Dasgupta; Yijun Yi; David Y. Chen; Jason D. Weber; David H. Gutmann



Compartment syndromes  

NASA Technical Reports Server (NTRS)

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.

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



Unravelling the effects of age, period and cohort on metabolic syndrome components in a Taiwanese population using partial least squares regression  

PubMed Central

Background We investigate whether the changing environment caused by rapid economic growth yielded differential effects for successive Taiwanese generations on 8 components of metabolic syndrome (MetS): body mass index (BMI), systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), triglycerides (TG), high-density lipoprotein (HDL), Low-density lipoproteins (LDL) and uric acid (UA). Methods To assess the impact of age, birth year and year of examination on MetS components, we used partial least squares regression to analyze data collected by Mei-Jaw clinics in Taiwan in years 1996 and 2006. Confounders, such as the number of years in formal education, alcohol intake, smoking history status, and betel-nut chewing were adjusted for. Results As the age of individuals increased, the values of components generally increased except for UA. Men born after 1970 had lower FPG, lower BMI, lower DBP, lower TG, Lower LDL and greater HDL; women born after 1970 had lower BMI, lower DBP, lower TG, Lower LDL and greater HDL and UA. There is a similar pattern between the trend in levels of metabolic syndrome components against birth year of birth and economic growth in Taiwan. Conclusions We found cohort effects in some MetS components, suggesting associations between the changing environment and health outcomes in later life. This ecological association is worthy of further investigation. PMID:21619595



Second-Impact Syndrome  

ERIC Educational Resources Information Center

Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

Cobb, Sarah; Battin, Barbara



Tourette Syndrome  


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 ...


Fanconi syndrome  


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 in ...


Kabuki make-up syndrome associated with West syndrome.  


A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome. PMID:9241911

Mitsudome, A; Yasumoto, S; Fukami, S; Ogawa, A



[Autoinflammatory syndromes].  


Autoinflammatory syndromes are characterised by recurrent or persistent inflammation with no increase in the antibody titers or antigen-specific T lymphocytes, and absence of infection. Initially, they included the hereditary periodic fever syndromes, a group of innate immune system monogenic diseases characterised by recurrent febrile episodes, with different characteristics, duration and interval, accompanied by other symptoms. Secondary amyloidosis is a complication in this group. The advances in the last few years has led to the identification of susceptible genes, new proteins, and characterising mechanisms and pathogenic routes that have led to an improvement in the diagnosis and establishing more effective treatments. Among these routes, are the changes in the inflammasome components, a group of cytoplasmic proteins that regulate the production of several inflammatory response mediators. The initial group of monogenic autoinflammatory diseases have increased in the last few years, due to including several polygenic hereditary diseases. PMID:21596180

Antón, Jordi



Elevated levels of CXCL10 in the Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome (PFAPA) during and between febrile episodes; an indication of a persistent activation of the innate immune system  

PubMed Central

Background The Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome (PFAPA) is the most common periodic fever syndrome in childhood. Clinically, PFAPA may resemble autoinflammatory diseases, but the etiology is not fully understood. Methods We measured inflammatory proteins in plasma and hematologic parameters in children with PFAPA during and between febrile episodes, and in a control group with suspected bacterial pneumonia. In children with PFAPA, a first blood sample was taken within 24 hours of a febrile episode and a second sample between episodes. In children with pneumonia, the first sample was taken shortly after admission and a second sample after full recovery. Results A total of 22 children with PFAPA and 14 children with pneumonia were included. In children with PFAPA, levels of interleukin (IL) 6, CXCL10 and CCL4 were significantly increased during febrile episodes. The levels of IL-6 and CXCL10 were higher in children with PFAPA during febrile episodes than in children with pneumonia. The levels of CXCL10 remained higher in children with PFAPA between febrile episodes compared to children with pneumonia after recovery. Children with PFAPA had a relative eosinopenia and lymphocytopenia with reduced numbers of both CD4+ and CD8+ T cells during febrile episodes. This pattern was not observed in the children with pneumonia. Conclusions The results indicate an innate immune response as the initial step in PFAPA, and a subsequent adaptive response with activation and redistribution of T cells. Moreover, an activation of the innate immune system involving CXCL10 may persist between febrile episodes. CXCL10 may be a possibly clinical marker in children with PFAPA. PMID:24134207



Antibody Response to Shiga Toxins in Argentinean Children with Enteropathic Hemolytic Uremic Syndrome at Acute and Long-Term Follow-Up Periods  

PubMed Central

Shiga toxin (Stx)-producing Escherichia coli (STEC) infection is associated with a broad spectrum of clinical manifestations that include diarrhea, hemorrhagic colitis, and hemolytic uremic syndrome (HUS). Systemic Stx toxemia is considered to be central to the genesis of HUS. Distinct methods have been used to evaluate anti-Stx response for immunodiagnostic or epidemiological analysis of HUS cases. The development of enzyme-linked immunosorbent assay (ELISA) and western blot (WB) assay to detect the presence of specific antibodies to Stx has introduced important advantages for serodiagnosis of HUS. However, application of these methods for seroepidemiological studies in Argentina has been limited. The aim of this work was to develop an ELISA to detect antibodies against the B subunit of Stx2, and a WB to evaluate antibodies against both subunits of Stx2 and Stx1, in order to analyze the pertinence and effectiveness of these techniques in the Argentinean population. We studied 72 normal healthy children (NHC) and 105 HUS patients of the urban pediatric population from the surrounding area of Buenos Aires city. Using the WB method we detected 67% of plasma from NHC reactive for Stx2, but only 8% for Stx1. These results are in agreement with the broad circulation of Stx2-expressing STEC in Argentina and the endemic behavior of HUS in this country. Moreover, the simultaneous evaluation by the two methods allowed us to differentiate acute HUS patients from NHC with a great specificity and accuracy, in order to confirm the HUS etiology when pathogenic bacteria were not isolated from stools. PMID:21559455

Fernandez-Brando, Romina J.; Bentancor, Leticia V.; Mejias, Maria Pilar; Ramos, Maria Victoria; Exeni, Andrea; Exeni, Claudia; del Carmen Laso, Maria; Exeni, Ramon; Isturiz, Martin A.; Palermo, Marina S.



Effects of chronic administration of SGS-111 during adulthood and during the pre- and post-natal periods on the cognitive deficits of Ts65Dn mice, a model of Down syndrome  

Microsoft Academic Search

The Ts65Dn mouse is the most commonly used model of Down syndrome. This mouse shows many phenotypic characteristics present in people with Down syndrome, including behavioral and cognitive deficits. SGS-111 is a novel analogue of the nootropic piracetam, which prevents oxidative damage and apoptosis in both normal and Down syndrome human cortical neurons. In this work we tested the ability

Noemí Rueda; Jesús Flórez; Carmen Martínez-Cué



Williams syndrome  


Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...


Down Syndrome  


... Information Clinical Trials Resources and Publications En Espańol 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 ...


Dravet Syndrome  


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 ...


Piriformis Syndrome  


... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder ...


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.  


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

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



Jacobsen syndrome  

PubMed Central

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

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



Foreign accent syndrome mimicked by Garcin syndrome with spontaneous resolution.  


An English speaking women developed a French accent, without any aphasic syndromes, in conjunction with multiple left sided cranial nerve deficits, temporally related to cranial trauma. Extensive testing with multimodality magnetic resonance imaging, cerebrospinal fluid and laboratory analysis was unremarkable. She was followed over a 3 year period during which her French accent resolved as did the majority of her multiple unilateral cranial neuropathies. The neurological diagnoses included a foreign accent syndrome attributed to a reversible Garcin syndrome. PMID:19096143

Hoffmann, Michael



Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma.  


Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. However, genetically engineered mice (GEM) in which mono-allelic germline Nf1 gene loss is coupled with bi-allelic somatic (glial progenitor cell) Nf1 gene inactivation develop brain tumors that do not fully recapitulate the neuropathological features of the human condition. These observations raise the intriguing possibility that, while loss of neurofibromin function is necessary for NF1-associated low-grade astrocytoma development, additional genetic changes may be required for full penetrance of the human brain tumor phenotype. To identify these potential cooperating genetic mutations, we performed whole-genome sequencing (WGS) analysis of three NF1-associated pilocytic astrocytoma (PA) tumors. We found that the mechanism of somatic NF1 loss was different in each tumor (frameshift mutation, loss of heterozygosity, and methylation). In addition, tumor purity analysis revealed that these tumors had a high proportion of stromal cells, such that only 50%-60% of cells in the tumor mass exhibited somatic NF1 loss. Importantly, we identified no additional recurrent pathogenic somatic mutations, supporting a model in which neuroglial progenitor cell NF1 loss is likely sufficient for PA formation in cooperation with a proper stromal environment. PMID:23222849

Gutmann, David H; McLellan, Michael D; Hussain, Ibrahim; Wallis, John W; Fulton, Lucinda L; Fulton, Robert S; Magrini, Vincent; Demeter, Ryan; Wylie, Todd; Kandoth, Cyriac; Leonard, Jeffrey R; Guha, Abhijit; Miller, Christopher A; Ding, Li; Mardis, Elaine R



Periodic functions with variable period  

E-print Network

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.

M. V Pryjmak



Goldenhar's syndrome.  


We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate. PMID:626178

Feingold, M; Baum, J



Thyroid Function in Down Syndrome.  

ERIC Educational Resources Information Center

This study investigated the thyroid function of 181 patients (mean age 14 years) with Down's syndrome and found more thyroid dysfunctions than in the general population. Periodic thyroid hormone function tests are recommended for Down's syndrome individuals, especially as they get older. (Author/DB)

Pueschel, Siegfried M.; And Others



Tourette Syndrome  


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. ...


Klinefelter syndrome  


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 ...


Sjogren's Syndrome  


... the prognosis? What research is being done? Clinical Trials Organizations Additional resources from MedlinePlus What is Sjögren's Syndrome? Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce ...


Paraneoplastic Syndromes  


... the prognosis? What research is being done? Clinical Trials Organizations What are Paraneoplastic Syndromes? Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as ...


Sjögren's Syndrome  


... syndrome sometimes develops as a complication of another autoimmune disorder. Symptoms vary in type and intensity, but many ... syndrome is not known, but it is an autoimmune disorder. People with this disease have abnormal proteins in ...


Asperger Syndrome  


... and symptoms of Asperger syndrome is given the diagnosis of Autism Spectrum Disorder (ASD). If a person was diagnosed with Asperger syndrome before May 2013, his or her diagnosis stays the same, but can be considered ASD ...


Asperger Syndrome  


... is Asperger syndrome? Asperger syndrome (AS) is an autism spectrum disorder (ASD), one of a distinct group ... and stereotyped patterns of behavior. Other ASDs include autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not ...


Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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…

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



Metabolic Syndrome  


... metabolic syndrome fact sheet hOW is the metAbOlic syndrOme treAted? Increasing physical activity and losing weight are the best ways to begin to manage your condition. Medications can also treat risk factors such as ... factors for the metabolic syndrome, talk with your doctor. Your doctor can run ...


Aase syndrome  


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 ...


Down syndrome  


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. ...


Restless legs syndrome  

Microsoft Academic Search

Group A ?-hemolytic streptococcal infections have been reported to cause neuropsychiatric symptoms, such as chorea, tics, and obsessive-compulsive disorder, presumably through autoimmune damage to basal ganglia. Mycoplasma pneumoniae infections have also been reported to cause damage to the basal ganglia. Restless legs syndrome is a movement disorder with focal restlessness, an irresistible desire to move, and exacerbation by long periods

Muneaki Matsuo; Katsunori Tsuchiya; Yuhei Hamasaki; Harvey S. Singer



Hypothalamic Hamartoma and the Pallister-Hall Syndrome  

Microsoft Academic Search

The Pallister-Hall syndrome (PHS) was initially described as the congenital hypothalamic ‘hamartoblastoma’ syndrome in 1980. Cardinal manifestations of the syndrome consist of a hypothalamic hamartoma and extracranial abnormalities, initially thought to be fatal in the perinatal period. The original pathologic description of these hypothalamic lesions were from infants who died in the perinatal period and revealed small cells of variable

Liza A. Squires; Shlomo Constantini; Douglas C. Miller; Jeffrey H. Wisoff



Serotonin Syndrome  

PubMed Central

Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David



Down's syndrome.  


The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world. PMID:12699967

Roizen, Nancy J; Patterson, David



Delayed diagnosis of Alport syndrome without hematuria.  


Alport syndrome is a progressive hereditary disease caused by mutations in the genes encoding type IV collagen. Persistent microscopic hematuria is the hallmark of Alport syndrome, occurring in almost all boys according to previous reports. We report the case of a 20-year-old man presented with proteinuria but no hematuria that was initially misdiagnosed with refractory nephrotic syndrome and was eventually diagnosed with Alport syndrome following kidney and skin biopsy. During the follow-up period, he experienced a rapid progression to end-stage renal disease. Timely diagnosis of Alport syndrome is important, because patients may benefit from early intervention and avoid suffering from unnecessary nephrotoxic drug use. PMID:24878952

Yin-Yin, Chen; You-Ming, Peng; Yu-Mei, Liang



Restless legs syndrome in multiple system atrophy.  


The purpose of the study was to evaluate the frequency of restless legs syndrome in 30 patients with multiple system atrophy. Eight patients complained from restless legs syndrome, their severity score was 19.4 ± 4.1. Pittsburgh Sleep Quality Index scores were significantly higher in patients with restless legs syndrome than those without (9.3 ± 3.7 vs. 4.8 ± 2.9, p = 0.00165). Periodic limb movements were found in 75 % of patients with restless legs syndrome. Restless legs syndrome is more prevalent in multiple system atrophy as compared to the acknowledged prevalence in the general population. PMID:24818598

Ghorayeb, Imad; Dupouy, Sandrine; Tison, François; Meissner, Wassilios G



Aicardi syndrome.  


Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome. PMID:22815034

Singh, Paramdeep; Goraya, Jatinder Singh; Saggar, Kavita; Ahluwalia, Archana



Barth syndrome  

PubMed Central

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. © 2013 Wiley Periodicals, Inc. PMID:23843353




[Kounis syndrome].  


Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226

Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M



Periodic Table  

NSDL National Science Digital Library

This unique periodic table presents the elements in an interesting visual display. Select an element, and find an image of the element, a description, history, and even an animation. Other chemical data is linked as a PDF file (requires Acrobat Reader).



Periodic behaviors  

E-print Network

This paper studies behaviors that are defined on a torus, or equivalently, behaviors defined in spaces of periodic functions, and establishes their basic properties analogous to classical results of Malgrange, Palamodov, Oberst et al. for behaviors on R^n. These properties - in particular the Nullstellensatz describing the Willems closure - are closely related to integral and rational points on affine algebraic varieties.

Napp, Diego; Shankar, Shiva



Human Resources/JAR/July 08 1 Associate Tutor payments  

E-print Network

This confirms the amount paid to you for the month in question. Your AT payments appear on the payslip" and "approved date". Normally payments will be made in equal monthly instalments over the period between months between the approval date and the end date; · where the approval date falls after the end date

Sussex, University of


The Orion OB1 association. 1: Stellar content  

NASA Technical Reports Server (NTRS)

Walfraven photometry of established and probable members of the Orion OB1 association is presented. Effective temperature, surface gravity, luminosity and mass are derived for all stars, using atmosphere model by Kurucz (1979). Absolute magnitudes are calculated using the Straizys and Kuriliene (1981) tables. Distance moduli and visual extinctions are determined. A comparison of the visual extinctions to IRAS 100 micrometers data shows that the near edge of the Orion A and B clouds lies at a distance of approximately 320 pc, while the far edge is at approximately 500 pc. A method for deriving the ages of the subgroups by comparing theoretical isochrones to the observations in the log g, log T(sub eff) plane is presented. The derived ages suggest, contrary to earlier studies, that subgroup 1b is younger than 1c, which can possibly be explained by past geometries of the system of stars and gas. The initial mass function for Orion OB1 is derived with the aid of the Kolmogorov-Smirnoff test. Through extensive simulations, we show that it is very difficult to derive accurately the Initial Mass Function (IMF) from the available data. To within somewhat weak limits the IMF is found to be of the form xi(log M) = AM(exp -1.7 +/- 0.2) for all subgroups. The energy output of the subgroups in the form of stellar winds and supernovae is calculated and compared to the observed size and expansion velocity of the Orion-Eridanus bubble. It is shown that the energy output of the association can account for the morphology and kinematics of the interstellar medium (ISM).

Brown, A. G. A.; De Geus, E. J.; De Zeeuw, P. T.



Wolf syndrome  

Microsoft Academic Search

Since the initial description in 1965 of Wolf syndrome, or deletion of the short arm of chromosome number four, over one hundred cases have been reported. Much less, however, has been published on the radiologic findings in this disorder. We report a case with both typical and unusual features of the 4p- syndrome, including “bottle opener” deformity of the clavicles,

D. S. Katz; T. H. Smith



Joubert Syndrome  


... our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. ...


Barth syndrome  

Microsoft Academic Search

Key words Disease name and synonyms Definition\\/diagnostic criteria Epidemiology Abstract Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. The disease can be slowly progressive or sudden. In most cases, Barth syndrome

Pascale de Lonlay; Dimitri Schlemmer; Paola Melacini


Stroke Syndromes  

Microsoft Academic Search

We gave a short overview of the most important stroke syndromes in the clinical setting. Knowledge of these syndromes helps\\u000a to understand the complex pathophysiology of cerebral ischemia. Combination of clinical findings with the data from the new\\u000a and evolving imaging techniques certainly facilitates and improves care for stroke patients.

Georg Gahn


Pfeiffer syndrome  

Microsoft Academic Search

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1

Annick Vogels; Jean-Pierre Fryns



Bazex Syndrome*  

PubMed Central

Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922

Rodrigues Junior, Ismael Alves; Gresta, Leticia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintao



Hepatorenal Syndrome  

Microsoft Academic Search

Hepatorenal syndrome (HRS) is a serious event during the course of decompensated cirrhosis. Although the most characteristic feature of the syndrome is a functional renal failure due to intense renal vasoconstriction, it is a more generalized process affecting the heart, brain and splanchnic organs. There are two types of HRS. Type 1 HRS is characterized by a rapidly progressive impairment

Mónica Guevara; Pere Ginčs



KBG syndrome  

Microsoft Academic Search

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and

Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola



Marfan Syndrome  


... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...


Poland syndrome  

PubMed Central

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.



Periodic Monopoles  

E-print Network

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.

R. S. Ward



Periodic Polymers  

NASA Astrophysics Data System (ADS)

Periodic polymers can be made by self assembly, directed self assembly and by photolithography. Such materials provide a versatile platform for 1, 2 and 3D periodic nano-micro scale composites with either dielectric or impedance contrast or both, and these can serve for example, as photonic and or phononic crystals for electromagnetic and elastic waves as well as mechanical frames/trusses. Compared to electromagnetic waves, elastic waves are both less complex (longitudinal modes in fluids) and more complex (longitudinal, transverse in-plane and transverse out-of-plane modes in solids). Engineering of the dispersion relation between wave frequency w and wave vector, k enables the opening of band gaps in the density of modes and detailed shaping of w(k). Band gaps can be opened by Bragg scattering, anti-crossing of bands and discrete shape resonances. Current interest is in our group focuses using design - modeling, fabrication and measurement of polymer-based periodic materials for applications as tunable optics and control of phonon flow. Several examples will be described including the design of structures for multispectral band gaps for elastic waves to alter the phonon density of states, the creation of block polymer and bicontinuous metal-carbon nanoframes for structures that are robust against ballistic projectiles and quasi-crystalline solid/fluid structures that can steer shock waves.

Thomas, Edwin



Language and communication development in Down syndrome.  


Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language production and syntax and poor speech intelligibility. This article describes research findings in the language and communication development of individuals with Down syndrome, first briefly describing the physical and cognitive phenotype of Down syndrome, and two communication related domains-hearing and oral motor skills. Next, we describe language development in Down syndrome, focusing on communication behaviors in the prelinguistic period, then the development of language in children and adolescents, and finally language development in adults and the aging period. We describe language development in individuals with Down syndrome across four domains: phonology, semantics, syntax, and pragmatics. Wethen suggest strategies for intervention and directions for research relating to individuals with Down syndrome. PMID:17326116

Roberts, Joanne E; Price, Johanna; Malkin, Cheryl



Monogenic autoinflammatory syndromes at a dermatological level  

Microsoft Academic Search

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

Donato Rigante; Luca Cantarini


Neuroacanthocytosis Syndromes  

PubMed Central

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



Hemihyperplasia syndromes  

Microsoft Academic Search

Obective  Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion\\u000a regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia\\u000a syndromes.\\u000a \\u000a \\u000a \\u000a Methods  Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available\\u000a literature and diagnostic criteria.\\u000a \\u000a \\u000a \\u000a Results  Of the 17

Ashwin B. Dalal; Shubha R. Phadke; Mandakini Pradhan; Sheetal Sharda



CLOVES syndrome.  


A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. PMID:24161472

Bloom, Jacob; Upton, Joseph



Cushing Syndrome  

PubMed Central

A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor. PMID:6992458

Cook, David M.; Kendall, John W.; Jordan, Richard



Serotonin syndrome  


... medicine). Drugs of abuse, such as ecstasy and LSD have also been associated with serotonin syndrome. ... Always tell all of your healthcare providers what medicines you take. ... especially right after starting a medicine or increasing ...


Caplan syndrome  


... who have been exposed to mining dust containing coal. The lung disease is called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... small lung lumps (nodules) and mild asthma-like airway disease. ...


Bloom's Syndrome  


... a high incidence of breaks in an individual’s chromosomes. The most serious manifestations of this condition are ... the symptoms of this disorder may recommend specialized chromosome testing or testing of the Bloom’s syndrome gene. ...


Down Syndrome  


... the key to healthier, happier, more independent lives. Chromosomes Are the Cause To understand why Down syndrome happens, you need to understand a little about chromosomes. What are chromosomes? They're thread-like structures ...


Hunter syndrome  


Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.


Aicardi Syndrome  


... encephalopathy that affects newborn infants. ) Is there any treatment? There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and ...


Apert syndrome  


... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...


Levator Syndrome  


... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse Merck ... exclude other painful rectal conditions (such as thrombosed hemorrhoids, fissures, or abscesses). The physical examination is often ...


Ohtahara Syndrome  


... Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first ... first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also ...


HELLP syndrome  


... in 10-20% of pregnant women with severe preeclampsia or eclampsia . Most often HELLP develops before the ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...


Williams Syndrome  


... cognitive, personality, and neurological characteristics of WS. NIH Patient Recruitment for Williams Syndrome Clinical Trials At NIH ... on the treatment or care of an individual patient should be obtained through consultation with a physician ...


Marfan syndrome.  


Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

Jain, Eesha; Pandey, Ramesh Kumar



Isaac's Syndrome  


... 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 ...


Paraneoplastic Syndromes  

PubMed Central

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

Stolinsky, David C.



Asperger Syndrome  


... AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group ... of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental ...


Sheehan syndrome  


... occur in a woman who bleeds severely during childbirth. Sheehan syndrome is a type of hypopituitarism . ... Severe bleeding during childbirth can result in tissue death in the pituitary gland. This causes the gland to lose its ability to work ...


Down Syndrome  


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


CHARGE syndrome  

Microsoft Academic Search

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies\\/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and

Kim D Blake; Chitra Prasad



[Kabuki syndrome].  


Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

Stankovics, J



Metabolic Syndrome  

Microsoft Academic Search

“Metabolic syndrome” refers to the phenomenon of risk factor clustering and is presumed to reflect a unifying underlying pathophysiology.\\u000a Clustering commonly occurs in the setting of obesity, insulin resistance and a sedentary lifestyle. Currently there are five\\u000a different criteria for metabolic syndrome, all of which are associated with increased risk of diabetes or cardiovascular disease.\\u000a Therapeutic lifestyle change that focuses

James B. Meigs


Jacobsen syndrome  

Microsoft Academic Search

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,

Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld



Williams-Beuren's Syndrome: A Case Report.  


Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad



Central Pain Syndrome  


NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...


Down Syndrome (For Parents)  


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 ...


Angelman Syndrome Foundation  


... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment 50% of individuals with Angelman syndrome are originally ... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment Angelman Syndrome Foundation, Inc. (800-432-6435) 75 ...


Early Identification of Cushing's Syndrome in Children  


... bilateral nodular adrenal disease may have periodic or “cyclic” Cushing’s syndrome. Bilateral nodular adrenal disease may be ... Violaceous skin striae 63 Acne 52 Hypertension 51 Fatigue-weakness 45 Precocious puberty 41 Bruising 27 Mental ...


Why Metabolic Syndrome Matters  


Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...


Pfeiffer syndrome.  


Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia. PMID:16740155

Vogels, Annick; Fryns, Jean-Pierre



Apert syndrome with omphalocele: A case report.  


Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. Birth Defects Research (Part A), 100:726-729, 2014. © 2014 Wiley Periodicals, Inc. PMID:25045033

Ercoli, Gabriel; Bidondo, María Paz; Senra, Blanca Cristina; Groisman, Boris



Monogenic autoinflammatory syndromes at a dermatological level.  


Autoinflammatory syndromes include an expanding list of diseases characterized by unprovoked recurrent attacks of systemic inflammation with lack of autoantibodies or autoreactive T-cells. This group of conditions encompasses monogenic diseases with Mendelian inheritance which are caused by specific mutations of different genes regulating the innate immunity: familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, pyogenic disorders and deficiency of interleukin-1 receptor antagonist: all these diseases can present with dermatological manifestations, which often represent the prominent clinical features or, in some cases, the presenting sign. The purpose of this review is to increase the recognition among clinicians and mostly dermatologists of the monogenic autoinflammatory syndromes, highlighting the cutaneous signs of these conditions, in consideration of the possibility to prevent irreversible damages when their diagnosis and treatment are precociously established. PMID:21340744

Rigante, Donato; Cantarini, Luca



Cowden syndrome.  


Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with ?80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. PMID:20580873

Farooq, A; Walker, L J; Bowling, J; Audisio, R A



IL-1 blockade in autoinflammatory syndromes.  


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

Jesus, Adriana A; Goldbach-Mansky, Raphaela



Neurocutaneous Syndromes  

Microsoft Academic Search

\\u000a Synonym. Also known as phakomatoses, a term derived from the Greek root phakos (birthmark) pointing out the common, visible dermatologic\\u000a manifestations characteristic of these syndromes.\\u000a \\u000a \\u000a Definition. The neurocutaneous syndromes consist of several heterogeneous disorders, grouped together because of their common manifestation\\u000a with neurologic, cutaneous and ocular signs. Disorders classified in this group of pathologies include neurofibromatosis (types\\u000a 1 and 2),

Gianpiero Tamburrini; Concezio Di Rocco


Morbihan syndrome  

PubMed Central

We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia



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

ERIC Educational Resources Information Center

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…

Acharya, Kruti



[SAPHO syndrome].  


The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J



Turcot Syndrome  


... of colorectal cancer , and an increased risk of brain cancer . The type of brain cancer generally depends on whether the Turcot syndrome is ... or FAP , with the addition of screening for brain cancer . See those conditions’ sections for a summary of ...


Patellofemoral syndrome  

Microsoft Academic Search

This paper examines the condition of anterior knee pain known as patellofemoral pain syndrome. It describes the functional anatomy and biomechanics of the knee including normal movement, and factors which may destabilize the knee, and predispose it to injury. The controversial “Q” angle is discussed, as is its relationship to patellofemoral pain. The importance of balanced musculature to the integrity

S. T. Green



Bloom syndrome.  


Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044

Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan



Sensory syndromes.  


Somatosensory deficit syndromes represent a common impairment following stroke and have a prevalence rate of around 80% in stroke survivors. These deficits restrict the ability of survivors to explore and manipulate their environment and are generally associated with a negative impact on quality of life and personal safety. Sensory impairments affect different sensory modalities in diverse locations at varying degrees, ranging from complete hemianesthesia of multiple modalities to dissociated impairment of somatosensory submodalities within a particular region of the body. Sensory impairments induce typical syndromal patterns which can be differentiated by means of a careful neurological examination, allowing the investigator to deduce location and size of the underlying stroke. In particular, a stroke located in the brainstem, thalamus, and the corticoparietal cortex result in well-differentiable sensory syndromes. Sensory function following stroke can be regained during rehabilitation even without specific sensory training. However, there is emerging evidence that specialized sensory interventions can result in improvement of somatosensory and motor function. Herein, we summarize the clinical presentations, examination, differential diagnoses, and therapy of sensory syndromes in stroke. PMID:22377851

Klingner, Carsten M; Witte, Otto W; Günther, Albrecht



Aicardi syndrome  

Microsoft Academic Search

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a

Jean Aicardi



[Casual diagnosis of Gitelman's syndrome].  


Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described. PMID:25016940

Martín-Miguel, V; Lafarga-Giribets, M A; Garcia-Esteve, L; Rodrigo-Claverol, M D



Propofol infusion syndrome and Brugada syndrome electrocardiographic phenocopy.  


This anesthetic drug may cause a rare condition named propofol infusion syndrome, characterized by unexplained lactic acidosis, lipemia, rhabdomyolysis, cardiovascular collapse and Brugada-like electrocardiographic pattern or Brugada electrocardiographic phenocopy changes following high-dose propofol infusion over prolonged periods of time. Several articles have contributed to our understanding of the cause of the syndrome, and the growing number of case reports has made it possible to identify several risk factors. Uncertainty remains as to whether a genetic susceptibility exists. The favorable recovery profile associated with propofol offers advantages over traditional anesthetics in clinical situations in which rapid recovery is important. Propofol is a safe anesthetic agent, but propofol infusion syndrome is a rare lethal complication. PMID:20544610

Riera, Andrés Ricardo Pérez; Uchida, Augusto Hiroshi; Schapachnik, Edgardo; Dubner, Sergio; Filho, Celso Ferreira; Ferreira, Celso



Poland syndrome.  


Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. The chest wall defect is often associated with a lung hernia. Clinical manifestations are extremely variable and rarely are all the features recognized in 1 individual. Fortunately it is invariably unilateral, allowing for an easier reconstruction. Single-stage reconstruction of the chest wall combined with simultaneous augmentation mammoplasty and transfer of an island pedicle myocutaneous flap of latissimus dorsi muscle are major improvements over previous multiple-stage procedures that provide less satisfactory cosmetic results in management of patients with Poland syndrome. PMID:19632568

Urschel, Harold C



Fibromyalgia syndrome.  


Fibromyalgia syndrome (FMS) is a more common a condition than previously estimated. The most recent estimates are that 3 to 6 million patients have been diagnosed with FMS. The ACR criteria, established in 1990, provide the primary care provider with definitive subjective and objective findings that have shown to be 88% accurate in their ability to diagnose patients with the syndrome. There is no cure for FMS. It is a chronic condition, but patients quality of life can be improved when fatigue and pain are reduced. The institution of a plan that is developed collaboratively by the patient and the provider is the essence of successful symptom management. The hallmarks of the management plan include: improving the quality of sleep through the judicious use of medications that boost the body's level of serotonin (therefore reducing fatigue), and reducing pain through complimentary modalities such as exercise, physical therapy, relaxation techniques, massage, and biofeedback. PMID:9769357

Smith, W A



Marfan's syndrome  

PubMed Central

Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700

Judge, Daniel P; Dietz, Harry C



Fluency Disorders in Genetic Syndromes  

ERIC Educational Resources Information Center

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…

Van Borsel, John; Tetnowski, John A.



Hepatorenal Syndrome  

PubMed Central

Hepatorenal syndrome (HRS) is a serious complication of liver cirrhosis with critically poor prognosis. The pathophysiological hallmark is severe renal vasoconstriction, resulting from complex changes in splanchnic and general circulations as well as systemic and renal vasoconstrictors and vasodilators. Rapid diagnosis and management are important, since recent treatment modalities including vasoconstrictor therapy can improve short-term outcome and buy time for liver transplantation, which can result in complete recovery. PMID:17603637

Ng, Charles KF; Chan, Michael HM; Tai, Morris HL; Lam, Christopher WK



Metabolic syndrome  

Microsoft Academic Search

The metabolic syndrome is like an elephant, and any literary review of its importance is shamefully reduced to an examination\\u000a of tusks, trunk, and tail. Evidence continues to mount that this diminutive approach is an incorrect management strategy for\\u000a such a large problem. Diet and lifestyle are effective strategies, but they must effectively compete with behaviors that have\\u000a instant gratification.

Margo A. Denke



[Sjögren's syndrome].  


This paper consists the theorical review and the current concepts of the subject and the second includes the casuistry of the Stomatology Department of the Pulido Valente Hospital. From April 1989 to 1991 (2 years), a study was made on Sjögren Syndrome (Primary and Secondary) of multiple character with the particular co-operation of the Portuguese Institute of Rheumatology. With this paper we wish to point out the importance of the oral evaluation of the study of the plurisystemic diseases as well as to establish criterions of diagnosis for the Portuguese population. Eighty cases of suspected Sjögren's Syndrome have been assessed, 66 of which have been fully. The reason for the consultation was dry mouth, dry eyes and enlargement of parotid glands. The symptoms were isolated or in association with other pathologies after other causes had been excluded. We had to establish the salivary reference values for the Portuguese population in 22 healthy volunteers. The xerostomia was evaluated by the Sialochemistry, Sialography, Cintigraphy and biopsies of the lower lip and of the sublingual gland. The ophthalmologic examination took place in the Ophthalmology Department of Santo António dos Capuchos Hospital by means of Shirmer test, Rosa Bengala and B.U.T. In spite of Sjögren's Syndrome being, up to now, so remotely determined in connection with the treatment, these patients need medical care and Stomatology plays a fundamental role as far as the diagnosis and the therapeutic points of view are concerned. We maintain the notion that the Syndrome is not as infrequent as one would believe and the evaluation of the oral field is important to establish the degree of the disease and its treatment. PMID:7856465

Brito, A; Figueirinhas, J; Ramos, M; Soares, A L; Neves, L R; Lobo, J; Faro, L S



Masquerade Syndromes  

Microsoft Academic Search

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

Shouvik Saha; Elizabeth M. Graham


Parkinsonian syndromes  

Microsoft Academic Search

\\u000a A variety of conditions may cause parkinsonian syndromes independent of the idiopathic loss of substantia nigra neurons and\\u000a deafferentation of the striatum; these include degenerative conditions, infections, drugs, toxins and structural lesions (Figure\\u000a 2.1). The clinical pictures of these degenerative conditions overlap but are usually recognized by the presence of subtle\\u000a “red flags” in the earlier stage of the illness.

K Ray Chaudhuri; Prashanth Reddy


Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo


Nutcracker syndrome.  


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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra



Noonan Syndrome  

PubMed Central

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available. PMID:24444506




Acrodysostosis syndromes  

PubMed Central

Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gs?, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gs?–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E



Nutcracker syndrome  

PubMed Central

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra



Trousseau's syndrome.  

PubMed Central

We report 4 cases of Trousseau's syndrome, in which spontaneous recurrent or migratory venous thromboses, arterial emboli caused by nonbacterial thrombotic endocarditis, or both, develop in a patient with a recognized or occult malignant tumor. The clinical course of 3 of the patients emphasizes a key point: The occurrence for no known reason of thromboses preventable by anticoagulation therapy with heparin but not with warfarin sodium should alert a physician to focus diagnostic efforts on uncovering an underlying malignant lesion. Thromboses may occur months to years before the tumor is discovered, and a thorough negative initial examination does not obviate the need for a continuing search. Patients with Trousseau's syndrome have persistent low-grade intravascular coagulation, and therapy with heparin should be continued indefinitely. Stopping heparin therapy for even a day may permit a new thrombosis to develop. Immunostaining a biopsy specimen from 1 patient provided evidence that 2 properties of a neoplastic lesion are required for the syndrome to develop: The malignant cells express surface membrane tissue factor, and structural features of the tumor permit the malignant cells or vesicles it sheds to be exposed to circulating blood. Images PMID:8317122

Callander, N; Rapaport, S I



Syndrome E.  


The transformation of groups of previously nonviolent individuals into repetitive killers of defenceless members of society has been a recurring phenomenon throughout history. This transformation is characterised by a set of symptoms and signs suggesting a common syndrome--Syndrome E. Affected individuals show obsessive ideation, compulsive repetition, rapid desensitisation to violence, diminished affective reactivity, hyperarousal, environmental dependency, group contagion, and failure to adapt to changing stimulus-reinforcement associations. Yet memory, language, planning, and problem-solving skills remain intact. The main risk factors are male sex and age between 15 and 50. A pathophysiological model--"cognitive fracture"--is hypothesised, where hyperaroused orbitofrontal and medial prefrontal cortices tonically inhibit the amygdala and are no longer regulated by visceral and somatic homoeostatic controls ordinarily supplied by subcortical systems. It is proposed that the syndrome is a product of neocortical development rather than the manifestation of a disinhibited primitive brain. Early recognition of symptoms and signs could lead to prevention through education and isolation of affected individuals. PMID:9428268

Fried, I


Roberts syndrome  

PubMed Central

All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. PMID:25054091

Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L



Tourette Syndrome (For Parents)  


... 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 ...


Down Syndrome: Eye Problems  


... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...


4H Syndrome  


... 4H syndrome is a genetic disorder. Its genetic basis is however still not known. How is 4H syndrome diagnosed? 4H syndrome is diagnosed on the basis of the clinical symptoms, especially ataxia and delayed ...


Learning about Down Syndrome  


... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome. MUMS ...


Tics and Tourette Syndrome  


... of people who have Tourette syndrome have this symptom. What else should I know? Many children who have Tourette syndrome also have attention-deficit hyperactivity disorder (also called ADHD). Children who have Tourette syndrome ...


Heart and Down Syndrome  


... 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 ( ...


Dental Issues & Down Syndrome  


... 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 ...


Anesthesia & Down Syndrome  


... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...


Craniofacial Syndrome Descriptions  


... with hemifacial microsomia. If both ears are affected Treacher Collins Syndrome may be involved. Moebius Syndrome is characterized by ... be fused. There may be a low hairline. Treacher Collins syndrome 13140 Coit Road • Suite 517 • Dallas, TX 75240 | ...


Radiation-induced moyamoya syndrome  

SciTech Connect

Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22-120 Gy). For NF-1-positive patients, the average RT dose was 46.5 Gy, and for NF-1-negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4-240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome.

Desai, Snehal S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Paulino, Arnold C. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)]. E-mail:; Mai, Wei Y. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Teh, Bin S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)



Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome.  


The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc. PMID:25250515

Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne



Efficacy of the kampo medicine xiong-gui-tiao-xue-yin (kyuki-chouketsu-in), a traditional herbal medicine, in the treatment of maternity blues syndrome in the postpartum period.  


This study was to evaluate the clinical efficacy of Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in), a Japanese traditional herbal medicine, in stabilizing postpartum psychological state. We enrolled 268 women who had a normal delivery in Osaka Medical College Hospital or its affiliated clinics and randomly assigned them to the following two groups: a group of 134 women who received Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) at a dose of 6.0 g/day and another group of 134 women without Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) (control group). We observed 2.06-fold and 1.67-fold higher incidences of depressive mood and nervousness, respectively, after delivery in the control group than in the Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) group. Within 3 weeks of postpartum, there was a significant difference in the incidences of maternity blues between the Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) group (15.7%; 21/134) and the control group (32.1%; 43/134) (p = 0.0195). No adverse effects were observed in this study. The results of this study demonstrate the beneficial clinical effects of Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) in stabilizing psychological state in the postpartum period. Xiong-gui-tiao-xue-yin (Kyuki-chouketsu-in) can be expected to improve the mental health of women in the postpartum period and prevent maternity blues. PMID:15844839

Ushiroyama, Takahisa; Sakuma, Kou; Ueki, Minoru



Syndrome in Open Tibial Fractures*t  

Microsoft Academic Search

A retrospective review of the cases of 180 patients who had 198 acute open fractures of the tibial shaft and were admitted to a multiple-trauma re- ferral center over a three-year period revealed an mci- dence of accompanying compartment syndrome of 9.1 per cent (eighteen fractures in sixteen patients). Each of the eighteen compartment syndromes was documented by measurements of



Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.  


Sotos syndrome (OMIM #117550) is a congenital syndrome characterized by overgrowth with advanced bone age, macrocephaly, and learning difficulties. Endocrine complications of this syndrome have not yet been fully described in previous reports. We here investigated the clinical manifestations of Sotos syndrome in Japanese patients who presented with hyperinsulinemic hypoglycemia of infancy. We recruited patients diagnosed as having Sotos syndrome who presented with the complication of hyperinsulinemia during the neonatal period using a survey of the abstracts of Pediatric Meetings in domestic areas of Japan from 2007 to 2011. As a result, five patients (four females and one male) were recruited to evaluate the clinical presentation of Sotos syndrome by reference to the clinical record of each patient. A 5q35 deletion including the NSD1 gene was detected in all patients. Major anomalies in the central nervous, cardiovascular, and genito-urinary systems were frequently found. Hypoglycemia occurred between 0.5 and 3?hr after birth and high levels of insulin were initially found within 3 days of birth. The patients were treated with intravenous glucose infusion at a maximum rate of 4.6-11.0?mg/kg/min for 12-49 days. Three of the five patients required nasal tube feeding. One patient received medical treatment with diazoxide. This study shows that patients with Sotos syndrome may present with transient hyperinsulinemic hypoglycemia in the neonatal period. PMID:23239432

Matsuo, Terumichi; Ihara, Kenji; Ochiai, Masayuki; Kinjo, Tadamune; Yoshikawa, Yoko; Kojima-Ishii, Kanako; Noda, Marie; Mizumoto, Hiroshi; Misaki, Maiko; Minagawa, Kyoko; Tominaga, Koji; Hara, Toshiro



Hepatopulmonary syndrome.  


The hepatopulmonary syndrome (HPS) is a pulmonary complication of cirrhosis and/or portal hypertension whereby patients develop hypoxemia as a result of alterations in pulmonary microvascular tone and architecture. HPS occurs in up to 30% of patients with cirrhosis. Although the degree of hypoxemia does not reliably correlate with the severity of liver disease, patients with HPS have a higher mortality than do patients with cirrhosis without the disorder. There has been progress into defining the mechanisms that lead to hypoxemia in HPS, but to date there are no therapeutic options for HPS aside from liver transplantation. PMID:24679503

Koch, David G; Fallon, Michael B



Behçet's syndrome.  


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

Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan



Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity  

Microsoft Academic Search

OBJECTIVETo investigate whether the stiff limb syndrome may be separated from the stiff man syndrome and progressive encephalomyelitis with rigidity on simple clinical grounds, and whether such a distinction has implications for aetiology, treatment, and prognosis.METHODSTwenty three patients referred over a 10 year period with rigidity and spasms in association with continuous motor unit activity, but without evidence of neuromyotonia,

R A Barker; T Revesz; M Thom; C D Marsden; P Brown



Parkinsonian Syndromes  

PubMed Central

Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

Williams, David R.; Litvan, Irene



Turner Syndrome  

PubMed Central

Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

Kesler, SR



Dandy-Walker Syndrome  


NINDS Dandy-Walker Syndrome Information Page Table of Contents (click to jump to sections) What is Dandy-Walker Syndrome? Is there ... being done? Clinical Trials Organizations What is Dandy-Walker Syndrome? Dandy-Walker Syndrome is a congenital brain ...


Post-Polio Syndrome  


NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome Fact Sheet Table of Contents (click to jump ... Trials Organizations Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a ...


Acute Respiratory Distress Syndrome in Lemierre's Syndrome  

PubMed Central

Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

Hein, Paul N.; Soghikian, Maida V.; Bhangoo, Munveer S.



Cushing's Syndrome  


... long time to heal Pink or purple stretch marks on your skin (especially the arms, breasts, adbomen and thighs) Round and puffy face Muscle weakness Depression Acne Irritability Irregular menstrual periods in women Thicker or ...


Myhre syndrome.  


Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (LAPS) cases supports that LAPS and MS are a unique entity. The long-term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are de novo and changing in the majority of cases Ile500, located in the MH2 domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via TGF? target genes in patient fibroblasts. Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. PMID:24580733

Le Goff, C; Michot, C; Cormier-Daire, V



[Marfan syndrome].  


Marfan's syndrome is a monogenetic disease with an autosomal dominant transmission generally accompanied by type I fibrillin abnormality. This widely-distributed molecule participates in the structure of connective tissues so that any aberration may result in disease of many systems: skeletal morphology, dislocation of the lens, neurological or cutaneous signs and dilatation of the aorta predisposing to dissection, mitral valve prolapse being a common association. The diagnosis, clinical because of the size of the culprit gene and the multiplicity of the possible mutations, is sometimes difficult, and diagnostic criteria have been proposed. It is important to make the diagnosis because treatment is based on the restriction of violent exercise, betablocker therapy and regular echocardiographic monitoring of the ascending aorta, the region at highest risk of dilatation and dissection. A family enquiry is essential to make the diagnosis before the onset of complications in pauci-symptomatic patients (great intra-familial variability). Pregnancy poses special problems in these patients. PMID:14694784

Jondeau, G; Boileau, C; Chevallier, B; Delorme, G; Digne, F; Guiti, C; Milleron, O; de SaintJean, M; Le Parc, J M; Moura, B



Noonan syndrome.  


Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ?50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. PMID:21771153

Turner, Anne M



Rett Syndrome  

PubMed Central

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

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



Nodding syndrome.  


An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

Dowell, Scott F; Sejvar, James J; Riek, Lul; Vandemaele, Katelijn A H; Lamunu, Margaret; Kuesel, Annette C; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B; Winkler, Andrea S; Mbonye, Anthony K



Noonan syndrome  

PubMed Central

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

van der Burgt, Ineke



Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour  

PubMed Central

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists for only a minority of these conditions, including WT1 associated syndromes, familial Wilms tumour, and certain overgrowth conditions such as Beckwith?Wiedemann syndrome. In many reported conditions the rare co?occurrence of Wilms tumour is probably due to chance. However, for several conditions the available evidence cannot either confirm or exclude an increased risk, usually because of the rarity of the syndrome. In addition, emerging evidence suggests that an increased risk of Wilms tumour occurs only in a subset of individuals for some syndromes. The complex clinical and molecular heterogeneity of disorders associated with Wilms tumour, together with the apparent absence of functional links between most of the known predisposition genes, suggests that abrogation of a variety of pathways can promote Wilms tumorigenesis. PMID:16690728

Scott, R H; Stiller, C A; Walker, L; Rahman, N



Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.  

ERIC Educational Resources Information Center

A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

Sung, Hyunsook; And Others



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

ERIC Educational Resources Information Center

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…

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



So Many Periodic Tables!  

NSDL National Science Digital Library

Periodic tables come in a variety of shapes and formats. Some periodic tables have a flair of creativity! Take a look at these different versions of Periodic Tables at the following websites. You will be asked to reflect on the theme of periodicity after exploring these websites. 1. Some Periodic Tables provide a wealth of information about each element. Compare 2 different elements on the following Periodic Tables. Periodic Table Alive WebElements 2. Periodic Tables can be organized in unique and unusual 2-dimensional and 3-dimensional formats. Analyse the organization of periodicity in some of the following Periodic Tables. Presentation Forms of the Periodic Table Universal Periodic Table 3. Sometimes the designer ...

Suggs, Mrs.



Nevoid Basal Cell Carcinoma Syndrome  


... Carcinoma Syndrome Request Permissions Download PDF Nevoid Basal Cell Carcinoma Syndrome This section has been reviewed and ... Editorial Board , 11/2013 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) ...


A Polymorphism in Thrombospondin-1 Associated with Familial Premature Coronary Artery Disease Alters Ca2  

E-print Network

A Polymorphism in Thrombospondin-1 Associated with Familial Premature Coronary Artery Disease- paragine (Asn-700) in thrombospondin-1 is associated with familial premature coronary artery disease of thrombospondin-1 has been associated with familial premature coronary artery disease when homozygous (1

Mosher, Deane F.


Johnson et al. 1 Associative Learning Over Trials Activates the Hippocampus in Healthy  

E-print Network

functional magnetic resonance imaging (fMRI) in twelve healthy elderly participants and nine patients decline. That study joins #12;Johnson et al. 4 a growing body of functional imaging evidence suggestingJohnson et al. 1 Associative Learning Over Trials Activates the Hippocampus in Healthy Elderly

Gluck, Mark


Gorlin-Goltz Syndrome  

PubMed Central

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.



Ophthalmic disorders in adults with down syndrome.  


A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified. PMID:22570648

Krinsky-McHale, Sharon J; Jenkins, Edmund C; Zigman, Warren B; Silverman, Wayne



Supernumerary teeth in non-syndromic patients.  


Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized. PMID:22474647

Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh



Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.  


We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination. The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes. PMID:8322826

White, C P; Waldron, M; Jan, J E; Carter, J E



Translationally Controlled Tumor Protein Is a Novel Biological Target for Neurofibromatosis Type 1-associated Tumors.  


Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that predisposes individuals to develop benign neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs). Due to the lack of information on the molecular mechanism of NF1-associated tumor pathogenesis or biomarkers/therapeutic targets, an effective treatment for NF1 tumors has not been established. In this study, the novel NF1-associated protein, translationally controlled tumor protein (TCTP), was identified by integrated proteomics and found to be up-regulated via activated MAPK/PI3K-AKT signaling in response to growth factors in NF1-deficient Schwann cells. Immunohistochemical analysis of NF1-associated tumors revealed that the TCTP expression level correlated with tumorigenicity. In NF1-deficient MPNST cells, TCTP protein but not mRNA was down-regulated by NF1 GTPase-activating protein-related domain or MAPK/PI3K inhibitors, and this correlated with suppression of mammalian target of rapamycin (mTOR) signaling. mTOR inhibition by rapamycin also down-regulated TCTP protein expression, whereas knockdown or overexpression of TCTP suppressed or activated mTOR signaling, respectively, and affected cell viability. These results suggest that a positive feedback loop between TCTP and mTOR contributes to NF1-associated tumor formation. Last, the anti-tumor effect of artesunate, which binds to and degrades TCTP, was evaluated. Artesunate significantly suppressed the viability of MPNST cells but not normal Schwann cells, and the TCTP level inversely correlated with artesunate sensitivity. Moreover, combinational use of artesunate and rapamycin enhanced the cytotoxic effect on MPNST cells. These findings suggest that TCTP is functionally implicated in the progression of NF1-associated tumors and could serve as a biological target for their therapy. PMID:25092287

Kobayashi, Daiki; Hirayama, Mio; Komohara, Yoshihiro; Mizuguchi, Souhei; Wilson Morifuji, Masayo; Ihn, Hironobu; Takeya, Motohiro; Kuramochi, Akira; Araki, Norie



Turner's syndrome.  


Turner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia. PMID:11529402

Guarneri, M P; Abusrewil, S A; Bernasconi, S; Bona, G; Cavallo, L; Cicognani, A; Di Battista, E; Salvatoni, A



Barth syndrome.  


Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. PMID:23843353

Jefferies, John L



Schimmelpenning syndrome.  


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

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



Active period Sleep period Active period Sleep period Fig. 1. Sleep-awake cycles of SMAC.  

E-print Network

A cycle Active period Sleep period Active period Sleep period SYNC usage DATA usage time Fig. 1. Sleep-awake cycles of SMAC. Modeling and Throughput Analysis for SMAC with a Finite Queue Capacity Ou extensive simulations, which provide throughput values within 5% of the throughput values obtained through

Heinzelman, Wendi


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


... usually will resolve by itself in the second decade of life. However, in nearly 15 percent of ... episode. PFAPA usually resolves spontaneously during the second decade of life. Tonsillectomy may cure the disease. WHO ...


Periodic Limb Movement Disorder and Restless Legs Syndrome  


... certain drugs (including benzodiazepines such as diazepam Some Trade Names DIASTAT VALIUM ) Take stimulants (such as caffeine ... Drugs used to treat Parkinson disease: Pramipexole Some Trade Names MIRAPEX , ropinirole Some Trade Names REQUIP , or ...


Cri du chat syndrome  


Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. ... Cri du chat syndrome is rare. It is caused by a missing piece of chromosome 5. Most cases are ...


Cardiac Syndrome X  


Related terms: angina, microvascular angina Cardiac syndrome X patients have the pain of angina , but they do not have coronary artery disease ( CAD ). So even though patients with cardiac syndrome X ...


Complex regional pain syndrome  


Complex regional pain syndrome (CRPS) is a chronic pain condition that can affect any area of the ... Bailey A, Audette JF. Complex regional pain syndrome. In: Frontera ... of Physical Medicine and Rehabilitation. 2nd ed. Philadelphia, ...


What Causes Down Syndrome?  


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


Lennox-Gastaut Syndrome  


... 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 ...


Proteus Syndrome Foundation  


... to Help Thank you for donating to the Proteus Syndrome Foundation. Learn More Medical Research Dr. Leslie Biesecker has discovered the cause of Proteus syndrome. See our FAQ section for more information. ...


Complex Regional Pain Syndrome  


... Syndrome? Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, ... Institute of Neurological Disorders and Stroke (NINDS). NINDS Chronic Pain Information Page Chronic pain information page compiled by ...


Treacher-Collins syndrome  


Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher-Collins syndrome. The condition can be passed down through families ( ...


Cardiopulmonary Syndromes (PDQ®)

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.


Post-Polio Syndrome  


... Where can I get more information? What is post-polio syndrome? Polio, or poliomyelitis, is an infectious ... 2012, down from more than 125 in 1988. Post-polio syndrome (PPS) is a condition that affects ...


Dubin-Johnson syndrome  


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 ...


Riley-Day syndrome  


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 ...


ADHD & Down Syndrome  


... Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, ... traits. Does That Mean That Your Child Has ADHD? It may, but more often it means that ...


DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder  

Microsoft Academic Search

Disrupted in schizophrenia 1 (DISC1) has been associated with risk of schizophrenia, schizoaffective disorder, bipolar disorder, major depression, autism and Asperger syndrome, but apart from in the original translocation family, true causal variants have yet to be confirmed. Here we report a harmonized association study for DISC1 in European cohorts of schizophrenia and bipolar disorder. We identify regions of significant

W Hennah; P Thomson; A McQuillin; N Bass; A Loukola; A Anjorin; D Blackwood; D Curtis; I J Deary; S E Harris; E T Isometsä; J Lawrence; J Lönnqvist; W Muir; A Palotie; T Partonen; T Paunio; E Pylkkö; M Robinson; P Soronen; K Suominen; J Suvisaari; S Thirumalai; D St Clair; H Gurling; L Peltonen; D Porteous



Ellis-van Creveld syndrome.  


Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. PMID:17547743

Baujat, Genevičve; Le Merrer, Martine



Ellis-Van Creveld syndrome  

PubMed Central

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. PMID:17547743

Baujat, Genevieve; Le Merrer, Martine



Autoimmune polyglandular syndromes  

Microsoft Academic Search

The autoimmune polyglandular syndromes—a group of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases—differ in their component diseases and in the immunologic features of their pathogenesis. One of the three main syndromes, type 1 autoimmune polyglandular syndrome (APS-1), has a unique pathogenic mechanism owing to mutations in the autoimmune regulator (AIRE) gene, which results in the loss of

Peter A. Gottlieb; Aaron W. Michels



Fibromyalgia syndrome.  


The fibromyalgia syndrome (FM) workshop at OMERACT 8 continued the work initiated in the first FM workshop at OMERACT 7 in 2004. The principal objectives were to work toward consensus on core domains for assessment in FM studies, evaluate the performance quality of outcome measures used in a review of recent trials in FM, and discuss the research agenda of the FM working group. An initiative to include the patient perspective on identification and prioritization of domains, consisting of focus groups and a patient Delphi exercise, was completed prior to OMERACT 8. Patient-identified domains were, for the most part, similar to those identified by clinician-investigators in terms of symptoms and relative importance. However, patients identified certain domains, such as stiffness, that were not included by physicians, and emphasized the importance of domains such as dyscognition and impaired motivation. Many of the principal domains agreed upon by the clinician-investigators, patients, and OMERACT participants, including pain, fatigue, sleep, mood, and global measures, have been used in clinical trials and performed well when viewed through the OMERACT filter. The research agenda items reviewed and approved for continued study included development of objective "biomarkers" in FM, development of a responder index for FM, and coordination with the WHO's International Classification of Functioning Disability and Health (ICF) Research Branch and the US National Institutes of Health's Patient Reported Outcome Measures Information System network (PROMIS) to develop improved measures of function, quality of life, and participation. The OMERACT process has provided a framework for identification of key domains to be assessed and a path toward validation and standardization of outcome measures for clinical trials in FM. PMID:17552068

Mease, Philip; Arnold, Lesley M; Bennett, Robert; Boonen, Annelies; Buskila, Dan; Carville, Serena; Chappell, Amy; Choy, Ernest; Clauw, Daniel; Dadabhoy, Dina; Gendreau, Michael; Goldenberg, Don; Littlejohn, Geoffrey; Martin, Susan; Perera, Philip; Russell, I Jon; Simon, Lee; Spaeth, Michael; Williams, David; Crofford, Leslie



[Sézary's syndrome].  


In Sézary's syndrome (SS), cutaneous manifestations are associated with an abnormal mononuclear cell in the blood. Clinically, the differential diagnosis with Mycosis fungoides is impossible. However, some of the symptoms are more in favor of SS, such as leonin face, palm and sole hyperkeratosis and changes in pigmentation. The diagnosis of SS rests upon the identification on ordinary blood smears of a lymphocytic cell, the size of which is variable and which exhibits a grooved, folded and lobulated nucleus. This cell is negative for both esterases and peroxydases. It is not a monocyte. Large cells have big nuclei with tetraploid DNA values, whereas small variants have near diploid values. Chromosome analysis may reveal near hypertetraploid, hyper or hypodiploid counts. Marker chromosomes have been seen which could be common to all types. However, many cases are known in which the karyotype was normal. In addition, there are cases in which chromosome analysis was impossible due to poor responses of the Sézary cells to PHA. As regards surface markers, there is general agreement that Sézary's cells are non-B lymphocytes. In some cases, the cells had both T markers (antigen and E-rosettes), whereas in others, only one (antigen) was expressed. In still other cases, the abnormal blood cell had neither B nor T markers. In at least one case, the cells had both B and T surface receptors. The diversity of the Sézary's cell would be explained by the immunologic pressure exerted upon skin lymphocytes by the epidermis due to a change in the antigenicity of this tissue in relation to ageing or to the presence of exogenous chemicals, or to physically induced mutations. Recent studies from this laboratory, using autoradiography after incorporation of tritiated thymidine, have shown labelled lymphocytes in the skin of three out of four cases of SS. These results suggest that cutaneous manifestations in SS, as well as in Mycosis fungoides, are comparable to a chronic Graft-Versus-Host reaction (GVH). PMID:241041

Pruniéras, M; Saglier, I; Grupper, C; Durepaire, R; Flandrin, G



Neuroleptic Malignant Syndrome  

PubMed Central

The neuroleptic malignant syndrome (NMS) is a potentially fatal syndrome characterized by diffuse muscular rigidity, pyrexia, sweating, cardiovascular instability, and elevated serum creatinine phosphokinase. NMS occurs in 2% of all patients exposed to neuroleptics (antipsychotic drugs). A case of successfully treated NMS is presented, and the typical symptomatic presentation, etiology, pathogenesis, and treatment options of this syndrome are described. PMID:21253261

Reinish, Lawrence W.; Remick, Ronald A.



Fragile X syndrome  


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 ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...


Large vestibular aqueduct syndrome.  


Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients. PMID:16570713

Dipak, S; Prepageran, N; Sazila, A S; Rahmat, O; Raman, R



Morbidity in Turner Syndrome  

Microsoft Academic Search

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome.

Claus Hřjbjerg Gravholt; Svend Juul; Rune Weis Naeraa; Jan Hansen



Treacher Collins Syndrome  


... version of this factsheet, click here What is Treacher Collins Syndrome? Treacher Collins syndrome is the name given to a birth defect ... do not function properly. The hearing loss in Treacher Collins syndrome is due to abnormalities in the structures of ...


Munchausen Syndrome\\/Munchausen Syndrome by Proxy  

Microsoft Academic Search

Munchausen syndrome (MS) is characterized by patients' chronic and relentless pursuit of medical treatment for combinations of symptoms of consciously self-inflicted injury and falsely reported symptomatology. MS patients are adults, as are perpetrators of Munchausen syndrome by proxy (MSBP). MSBP is an unusual form of child abuse in which a parent, usually the mother, brings a child for medical attention

John B. Murray



Association of hiatus hernia with asplenia syndrome  

Microsoft Academic Search

During a 13-month period, 13 patients with asplenia syndrome were evaluated with MRI for cardiovascular and visceral anomalies. The MR images were reviewed for the presence of hiatus hernia which was found in three patients. One of the remaining ten patients with no MRI evidence of hiatus hernia was diagnosed as having gastro-oesophageal reflux and hiatus hernia by an oesophagogram

J.-K. Wang; M.-H. Chang; Y.-W. Li; W.-J. Chen; H.-C. Lue



Rationale and efficacy of CD52 targeting in HTLV-1-associated myositis.  


We retrospectively analysed two selected patients, referred to our Haematology Department for refractory HTLV-1 associated myositis with circulating pathologic T-cell population with ATL phenotype. They respectively presented also HTLV-1 associated Crohn-like disease and myelopathy. Muscle biopsy of both patients was analysed to determine the pathologic infiltrate. Alemtuzumab was proposed as salvage therapy. Targeting CD52 with alemtuzumab showed good efficacy on myopathy of both patients for respectively 11 and 10 months. Interestingly, this treatment showed also efficacy on circulating pathologic T-cell population and on concomitant digestive and neurological diseases. The double infected cells ablation and immunosuppressive propriety of alemtuzumab probably explains its interest in this infectious and dysimmunitary disorder. Even though alemtuzumab probably remains a suspensive treatment, its place should be assessed in controlled trial in this difficult to treat rare disease. PMID:24709000

Cochereau, Delphine; Georgin-Lavialle, Sophie; Maisonobe, Thierry; Dubourg, Odile; Melboucy-Belkhir, Sara; Hermine, Olivier; Aouba, Achille



Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors  

Microsoft Academic Search

The differences in the clinical course and histopathology of sporadic and neurofibromatosis type 1 (NF1)-associated malignant\\u000a peripheral nerve sheath tumors (MPNST) were investigated retrospectively. The collective comprised 38 NF1 patients and 14\\u000a sporadic patients. NF1 patients were significantly younger at diagnosis (p < 0.001) and had a significantly shorter survival time than sporadic patients (median survival 17 months vs. 42 months, Breslow

Christian Hagel; Ulrich Zils; Matthias Peiper; Lan Kluwe; Stefan Gotthard; Reinhard E. Friedrich; David Zurakowski; Andreas von Deimling; Victor Felix Mautner



Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors  

Microsoft Academic Search

Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive soft tissue sarcomas that rarely occur in the general\\u000a population but have a lifetime incidence of 8% to 13% in those with neurofibromatosis type 1 (NF1). Complete surgical resection\\u000a is the standard treatment for MPNSTs. Unresectable MPNSTs carry a poor prognosis, and survival appears to be worse in NF1-associated\\u000a tumors than

Brigitte C. Widemann



HTLV-1-associated arthropathy treated with anti-TNF-alpha agent.  


Human T cell leukemia virus type 1 or HTLV-1 infection is a public health problem in endemic regions like Japan, Central America or Africa. Although the majority of HTLV-1 carriers remain asymptomatic throughout their lives, some patients could develop neurological disorder, inflammatory arthropathy also called HTLV-1-associated arthropathy or T-cell malignancy, the adult T-cell leukemia/lymphoma or ATL with a very poor prognosis. Described to be very close to rheumatoid arthritis, HTLV-1-associated arthropathy patients have few or no response to the first line therapy with corticosteroids and disease modifying antirheumatic drugs or DMARDs. The use of anti-TNF-? agents in these patients is an interesting alternative but asks the question of risk of developing an adult T-Cell leukemia/lymphoma. We reported an exceptional case of a smoldering ATL patient with an HTLV-1-associated arthropathy, refractory to corticosteroid, DMARDs and rituximab therapy, treated successfully with etanercept, without progression to aggressive ATL after 5 years. PMID:24289962

Frenzel, Laurent; Moura, Bertrand; Marcais, Ambroise; Chapdelaine, Hugo; Hermine, Olivier



[The Othello syndrome].  


A case is described and 7 others are discussed of the Othello Syndrome, characterized by cognitive, affective and conative manifestations plus non-specific psychosomatic accesory symptoms. The nuclear symptom is the delusional or delusion-like idea of jealousy. The syndrome is seen in both sexes, as part of a number of clinical entities (paranoia, psychoses, organic brain syndromes, neuroses and personality disorders). Premorbid personality and family history are always abnormal. Cases of cocaine abuse, involutional melancholia and borderline syndrome are remarkers. The management of this syndrome and of its social sequelae is emphasized. PMID:7348062

Alarcon, R



Sipple syndrome and pregnancy.  


Sipple syndrome is an unusual entity during pregnancy. To our knowledge, this is the second case report of a pregnant patient with signs of Sipple syndrome. During pregnancy, this syndrome may present unusual complications, which require informed physician expertise for appropriate management. Our patient had a strong family history for Sipple syndrome, which is considered to be transmitted as an autosomal dominant. Thus, other family members, including the patient's offspring must be assessed frequently during their lifetime for any of the developing manifestations of this entity. Genetic counseling should be included in the management of all patients with Sipple syndrome. PMID:946212

Harris, R E; Gilstrap, L C; Brekken, A L



Barth syndrome  

PubMed Central

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819



Barth syndrome.  


First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L; Groves, Sarah J; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M; McCurdy, Katherine R; Damin, Michaela K; Spencer, Carolyn T; Toth, Matthew J; Kelley, Richard I; Steward, Colin G



Behcet's Syndrome.  


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

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



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

ERIC Educational Resources Information Center

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…

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



Periodic Screening Evaluation

Statistical Software Periodic Screening Evaluation (Written by Stuart G. Baker) New Approach (Simplified Approximation): See Baker SG. Evaluating periodic cancer screening without a randomized control group: a simplified design and analysis. In: Duffy


Genealogy of Periodic Trajectories.  

National Technical Information Service (NTIS)

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...

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



Time-periodic universes  

E-print Network

In this letter we construct a new time-periodic solution of the vacuum Einstein's field equations whose Riemann curvature norm takes the infinity at some points. We show that this solution is intrinsically time-periodic and describes a time-periodic universe with the "black hole". New physical phenomena are investigated and new singularities are analyzed for this universal model.

De-Xing Kong; Kefeng Liu; Ming Shen



[Tic syndrome].  


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

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



Stellar flaring periodicities.  

NASA Astrophysics Data System (ADS)

Long term monitoring of the radio flux density of a sample of cool, rapidly rotating stars in binary systems has revealed periodicities in their flaring activity. In one system, V773 Tau A p, the flaring periodicity is caused by inter-binary collisions of large magnetic structures like solar helmet streamers. In another system, UX Arietis p, the flaring periodicity depends on an intrinsic mechanism originating in the stellar interior, that implies preferred areas for the (periodical) emergence of magnetic flux tubes. The periodical interaction between old and new flux tubes triggers magnetic reconnection and periodical flares. Connecting that behaviour to the Sun, the Rieger periodicities (solar cycles with a time scale of months) are reviewed.

Massi, Maria


Chemically peculiar stars in the orion OB1 association. I. occurrence frequency, spatial distribution, and kinematics  

NASA Astrophysics Data System (ADS)

A total of 85 CP stars of various types are identified among 814 members of the OriOB1 association. The fraction of CP stars decreases with age for different cluster subgroups: from 15.1% in the youngest subgroup (b) to 7.7% in the oldest one (a). Individual comments are provided for each of the 85 stars, where we analyze the physical parameters and distance of the objects. All the 23 Am stars identified as a result of this study are found to have heliocentric distances between 100 and 300 pc and appear not to be members of the OrionOB1 association, but foreground objects. We identified 59 Bp stars, which account for 13.4% of the total number of B-type stars in the association. The fraction of peculiar B-type stars in the OriOB1 association is found to be twice higher than that of peculiar A-type stars. The same is true for field stars. The association contains 22 magnetic stars, out of which 21 are Bp stars and only one is an Ap star. Seventeen of these stars are objects with anomalous helium lines. Magnetic stars show a well-defined tendency to concentrate in the central region of the association (in Orion's Belt), which contains most of these objects. No significant differences are found between the field strengths in the B-type stars of the association and Bp-type field stars, although there is a noticeable trend for He-rich stars to have stronger fields compared to He-weak stars. We identified 17 binaries, which make up 20% of the total number of peculiar stars studied, which is the standard ratio for CP stars. Except for one HgMn star (HD35548), the radial velocities and proper motions of our identified objects are consistent with the corresponding parameters of normal B-type stars.

Romanyuk, I. I.; Semenko, E. A.; Yakunin, I. A.; Kudryavtsev, D. O.



Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.  


Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. PMID:24282415

Caso, Francesco; Rigante, Donato; Vitale, Antonio; Lucherini, Orso Maria; Costa, Luisa; Atteno, Mariangela; Compagnone, Adele; Caso, Paolo; Frediani, Bruno; Galeazzi, Mauro; Punzi, Leonardo; Cantarini, Luca



Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues  

PubMed Central

Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. PMID:24282415

Costa, Luisa; Atteno, Mariangela; Compagnone, Adele; Caso, Paolo; Frediani, Bruno; Galeazzi, Mauro; Punzi, Leonardo



Angelman Syndrome What is Angelman syndrome?  

E-print Network

syndrome also will show signs of autism spectrum disorder. Outbursts be treated? Early diagnosis and early intervention is the best treatment. Most with autism spectrum disorders face, so membership in a local chapter of The Arc

Palmeri, Thomas


Multiple periodicities in long-period variables  

NASA Astrophysics Data System (ADS)

The variety of types of variability is reviewed. Special attention is paid to observations and mathematical models of one-harmonic, multi-harmonic, multi-frequency, multi-shift and quasi-periodic pulsations (cf. Andronov 1994). Methods of local smoothing are discussed and compared: running parabolae (Andronov 1997), running trigonometric polynomials (Chinarova et al., 1994), asymptotic parabolae (Marsakova and Andronov, 1996), splines (Andronov 1995) and ordinary polynomials are compared. The weighted wavelet Z-transform (WWZ) by Foster (1996) is extended to obtain the time-averaged frequency-dependent WWZ periodogram and to make "self-tuning" analysis of the temporal variations of the WWZ best fits. The precise analytic expressions for the accuracy estimates and their simplifications are used to determine their numerical values. The methods are illustrated by application to the photographic and visual observations of the semi-regular and Mira-type stars. Among the highlights: switchings of the pulsational period from one value to another; biperiodic pulsations; long-term modulation of the pulsational curve (sometimes variations of the amplitude and phase, sometimes reverse of the asymmetry); evolutionary period variations and corresponding changes of the photometric characteristics. The detailed description of the methods and their applications to concrete stars are presented in the associated posters (P2-07, P2-16, P2-19).

Andronov, I. L.


Stability and Change in Health, Functional Abilities, and Behavior Problems Among Adults With and Without Down Syndrome  

Microsoft Academic Search

Changes in health, functional abilities, and behavior problems among 150 adults with Down syndrome and 240 adults with mental retardation due to other causes were examined with seven assessments over a 9-year period. Adults were primarily younger than 40, the age at which declines begin to be evident in individuals with Down syndrome. Adults with Down syndrome were advantaged in

Anna J. Esbensen; Marsha Mailick Seltzer; Marty Wyngaarden Krauss



Behavioral Phenotypes in Children with Down Syndrome, Prader-Willi Syndrome, or Angelman Syndrome  

Microsoft Academic Search

This study investigated the concept of behavioral phenotypes by comparing behavior ratings of 91 children with Down syndrome, 28 children with Prader-Willi syndrome, 68 children with Angelman syndrome, and 24 children with nonspecific mental retardation. Results supported distinctive behavioral profiles for the syndrome groups. The Down syndrome group showed good social skills and low ratings of problem behaviors including hyperactivity.

Nicolay Chertkoff Walz; Betsey A. Benson



Periodic chiral structures  

NASA Technical Reports Server (NTRS)

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.

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



Metabolic Syndrome and Migraine  

PubMed Central

Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

Sachdev, Amit; Marmura, Michael J.



Is PPAR? a Prospective Player in HIV-1-Associated Bone Disease?  

PubMed Central

Currently infection with the human immunodeficiency virus-1 (HIV-1) is in most instances a chronic disease that can be controlled by effective antiretroviral therapy (ART). However, chronic use of ART has been associated with a number of toxicities; including significant reductions in bone mineral density (BMD) and disorders of the fat metabolism. The peroxisome proliferator-activated receptor gamma (PPAR?) transcription factor is vital for the development and maintenance of mature and developing adipocytes. Alterations in PPAR? expression have been implicated as a factor in the mechanism of HIV-1-associated lipodystrophy. Both reduced BMD and lipodystrophy have been well described as complications of HIV-1 infection and treatment, and a question remains as to their interdependence. Interestingly, both adipocytes and osteoblasts are derived from a common precursor cell type; the mesenchymal stem cell. The possibility that dysregulation of PPAR? (and the subsequent effect on both osteoblastogenesis and adipogenesis) is a contributory factor in the lipid- and bone-abnormalities observed in HIV-1 infection and treatment has also been investigated. This review deals with the hypothesis that dysregulation of PPAR? may underpin the bone abnormalities associated with HIV-1 infection, and treats the current knowledge and prospective developments, in our understanding of PPAR? involvement in HIV-1-associated bone disease. PMID:19325916

Cotter, Eoin J.; Mallon, Patrick W.; Doran, Peter P.



The CV Period Minimum  

E-print Network

Using improved, up-to-date stellar input physics tested against observations of low-mass stars and brown dwarfs we calculate the secular evolution of low-mass donor CVs, including those which form with a brown dwarf donor star. Our models confirm the mismatch between the calculated minimum period (P_min ~ 70min) and the observed short-period cut-off (~80min) in the CV period histogram. Theoretical period distributions synthesized from our model sequences always show an accumulation of systems at the minimum period, a feature absent in the observed distribution. We suggest that non-magnetic CVs become unobservable as they are effectively trapped in permanent quiescence before they reach P_min, and that small-number statistics may hide the period spike for magnetic CVs. We calculate the minimum period for high mass transfer rate sequences and discuss the relevance of these for explaining the location of CV secondaries in the orbital period - spectral type diagram. We also show that a recently suggested revised mass-radius relation for low-mass main-sequence stars cannot explain the CV period gap.

Ulrich Kolb; Isabelle Baraffe



The Periodic Table  

NSDL National Science Digital Library

The following will provide you with a brief overview of the Periodic Table of Elements, as well as some interesting facts about the elements. There are also some games which will help you practice the names and symbols of the elements. A worksheet may be provided for you to record your newfound knowledge. Please follow the directions and links below to enlighten yourself on the wonders of the Periodic Table. If provided, don't forget to fill in your worksheet as you go... Part A: Who, what, where and when? Read a brief History of the Periodic Table:History of the PT2. Part B: Interactive Periodic Tables: Find physical ...

Cutting, Mrs.



Joint hypermobility syndrome pain  

Microsoft Academic Search

Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of\\u000a joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed,\\u000a multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features\\u000a of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome.

Rodney Grahame



Meckel-Gruber syndrome  

Microsoft Academic Search

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys.\\u000a This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted\\u000a with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome.

N. Gazio?lu; M. Vural; M. S. Seçkin; B. Tüysüz; E. Akpir; C. Kuday; B. Ilikkan; A. Erginel; A. Cenani



Meckel and Joubert Syndromes  

Microsoft Academic Search

\\u000a Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal\\u000a recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated\\u000a with defects in the structure and\\/or the function of the primary cilium. The cardinal features of Meckel syndrome include\\u000a the triad of brain anomalies

Melissa A. Parisi; Laura S. Finn; Ian A. Glass


An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21.  


Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics. PMID:23951402

Vilardell, Mireia; Civit, Sergi; Herwig, Ralf



An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21  

PubMed Central

Summary Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics. PMID:23951402

Vilardell, Mireia; Civit, Sergi; Herwig, Ralf



Toxic Shock Syndrome (For Parents)  


... Free Health Lessons Social Media: Connect With Us 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 ...


Genetics Home Reference: Tourette syndrome  


... 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 ...


Gilles de la Tourette syndrome  


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 ...


Irritable Bowel Syndrome in Children  


... Bowel Syndrome in Children Irritable Bowel Syndrome in Children On this page: What is irritable bowel syndrome ( ... GI tract [ Top ] How common is IBS in children? Limited information is available about the number of ...


Down Syndrome and Alzheimer's Disease  


Down Syndrome and Alzheimer's Disease Tweet As they age, those affected by Down syndrome have a greatly increased ... disease. About Symptoms Diagnosis Causes & risks Treatments About Down Syndrome and Alzheimer's Higher prevalence of Alzheimer's in people ...


Genetics Home Reference: Proteus syndrome  


... gov Research studies OMIM Genetic disorder catalog Conditions > Proteus syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed June 2012 What is Proteus syndrome? Proteus syndrome is a rare condition characterized ...


[Dermatopolymyositis and overlap syndromes].  


Clinical characteristics and immunoserological features of patients with overlap myositis treated in Clinic for Rheumatology of Military Medical Academy in the period 1978-1996 are presented in the study. Retrospective and partially prospective study included 16 patients with the diagnosis of dermatopolymyositis associated with some other systemic disease of connective tissue (SDCT) in overlap syndrome. There were 12-females of average age 37.33 years and 4 males of average age 52.25 years. Complete laboratory investigation included the determination of muscular enzymes values. Immunoserological analyses were also performed (RF, Le cells, ANA, ICs, immunoglobulins, cryoglobulins and complement), EMNG examination of pelvis and shoulder and pH examination of skin, subcutaneous tissue and muscles. The combination of the diseases was found in 11 patients, 7 were with PSS, 2 with SLE, 1 with RA and one with PAN. Three diseases were associated in 4 patients, SLE and RA in 2, PSS and RA in 1, thyroiditis and sicca complex in 1. Five-fold combination of disease was found in 1 patient. More frequent occurrence of fever, polyarthritis, skin manifestations, Raynoud's phenomenon, the involvement of serosas, lungs and heart, histological finding of skin and/or muscle vasculitis and larger presence of ANA, ICs, hypergammaglobulinemia and hypocomplementemia pointed out the dominant disorder of humoral immunity which was most probably connected with associated SDCT. PMID:9612123

Petrovi?-Rackov, Lj; Mitrovi?, D; Andjelkovi?, Z; Popovi?, M; Jankovi?-Mladenovska, S



Irritable bowel syndrome  

PubMed Central

Introduction The prevalence of irritable bowel syndrome (IBS) varies depending on the criteria used to diagnose it, but it ranges from about 5% to 20%. IBS is associated with abnormal gastrointestinal motor function and enhanced visceral perception, as well as psychosocial and genetic factors. People with IBS often have other bodily and psychiatric symptoms, and have an increased likelihood of having unnecessary surgery compared with people without IBS. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments in people with IBS? We searched: Medline, Embase, The Cochrane Library, and other important databases up to August 2011 (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 27 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: 5HT3 receptor antagonists (alosetron and ramosetron), 5HT4 receptor agonists (tegaserod), antidepressants (tricyclic antidepressants and selective serotonin reuptake inhibitors [SSRIs]), antispasmodics (including peppermint oil), cognitive behavioural therapy (CBT), hypnotherapy, loperamide, and soluble and insoluble fibre supplementation. PMID:22296841



Rechallenging clozapine after neuroleptic malignant syndrome.  


Neuroleptic malignant syndrome (NMS) is a potentially fatal manifestation of antipsychotic use associated with symptoms that include mental status changes, muscle rigidity, fever and autonomic dysfunction. An occurrence of NMS with clozapine has been reported in the past but there are very few reports of successfully rechallenging the drug in individuals who have developed the syndrome. This case report discusses one of the few instances in literature where clozapine has been re-administered successfully to a patient without a reoccurrence of NMS. In conclusion, a rechallenge of clozapine after neuroleptic malignant syndrome can be done if care is taken to avoid concurrent use of lithium and other psychotropics, monitoring for NMS symptoms and titrating the dose upward slowly after a reasonable period of time. PMID:24633526

Anbalagan, Emaya; Ithman, Muaid; Lauriello, John



Intraocular Lens Subluxation in Marfan Syndrome  

PubMed Central

Purpose : Ectopia lentis (EL) is a major criteria for the diagnosis of Marfan syndrome, it may vary from an asymptomatic mild displacement to a significant subluxation that places the equator of the lens in the pupillary axis. The purpose of this work is to present the case of a patient with Marfan syndrome who received treatment for subluxation at our institution. Case Report : A 51-year-old female diagnosed with Marfan syndrome presented to the emergency department with bilateral eye redness, foreign body sensation and crusting around the eyes on awakening. She had the following history of cardiac and ophthalmologic complications, including: 1. Lens subluxation 2. High myopia 3. Aortic root dilation, 4. Mitral valve prolapse and 5. Tricuspid insufficiency. Conclusion : The ophthalmological management of Marfan patients is challenging and periodical follow-up is needed. Surgical versus conservative management is controversial, each case needs to be evaluated individually to analyze the risks and benefits of the procedures. PMID:25279020

Rodrigo, Bolanos-Jimenez; Paulina, Lopez-Lizarraga E; Francesc, March de R; Eduardo, Telich-Tarriba J; Alejandro, Navas



Papillon-Lefevre syndrome.  


Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmoplanter hyperkeratosis of the skin and severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous and permanent teeth as they erupt leading to precocious loss of dentition. Although the exact pathogenesis of this syndrome is still unknown immunologic, microbiologic, and genetic bases have been proposed. Here we report a case of Papillon-Lefevre syndrome. The patient had generalized plaque accumulation along with halitosis, mobile teeth with periodontal pocket with pus exudation. Blood & biochemical report was within normal limit with a low CD3+ and CD4+. PMID:22081200

Singh, V P; Sharma, A; Sharma, S



Laugier-Hunziker syndrome  

PubMed Central

Laugier–Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier–Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier–Hunziker syndrome with its differential diagnosis. PMID:22923898

Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V



The Disuse Syndrome  

PubMed Central

Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

Bortz II, Walter M.



Mild toxic anterior segment syndrome mimicking delayed onset toxic anterior segment syndrome after cataract surgery  

PubMed Central

Toxic anterior segment syndrome (TASS) is an acute sterile postoperative anterior segment inflammation that may occur after anterior segment surgery. I report herein a case that developed mild TASS in one eye after bilateral uneventful cataract surgery, which was masked during early postoperative period under steroid eye drop and mimicking delayed onset TASS after switching to weaker steroid eye drop. PMID:25230969

Lee, Su-Na



Learning about Cri du Chat Syndrome  


... Chromosomal Abnormalities An NHGRI fact sheet Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... Resources for cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...


Capgras' syndrome with organic disorders.  

PubMed Central

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

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



Neurophysiologische und klinische Untersuchungen heim Pickwick-Syndrom  

Microsoft Academic Search

1.Polygraphic investigations of night sleep (EEG, respiration, concentration of CO2, Oxymetry, EMG of the intercostal and mouth muscles, snoring) were carried out on 14 hypersomnic patients with the Pickwick Syndrome (PWS). The results were compared with clinical findings.2.The irreversible cardinal symptom of PWS is a pathological central depression of respiration in sleep (somnogene Hypoventilation) with periodic respiration and periodic arousal

Wolfgang Kuhlo



Science Sampler: Periodic Table  

NSDL National Science Digital Library

Teaching the periodic table can be a mundane task filled with repetition and rote memorization. The techniques for engaging activities outlined in this article will help students become familiar with the periodic table in fun and exciting ways through mediums such as games, silly stories, jokes, puzzles, and songs.

Galus, Pamela



Periodic orbits and stability  

Microsoft Academic Search

A review is presented of periodic orbits which are of interest to dynamical astronomy, and their relation to actual systems is considered. In particular, the paper reviews periodic orbits in planetary systems with two or more planets, in the asteroid system, in stellar systems, and in the motion of a star in various types of galaxies. Most systems are close

John D. Hadjidemetriou



The Living Periodic Table  

ERIC Educational Resources Information Center

To help make the abstract world of chemistry more concrete eighth-grade students, the author has them create a living periodic table that can be displayed in the classroom or hallway. This display includes information about the elements arranged in the traditional periodic table format, but also includes visual real-world representations of the…

Nahlik, Mary Schrodt



The Pictorial Periodic Table  

NSDL National Science Digital Library

This online periodic table of the elements is a fabulous find for students of chemistry. On the main page, a clickable periodic table allows users to choose an element and then view a page listing that element's electron configuration, atomic weight and number, isotopes and product elements, and a number of other physical properties such as ionization potential and boiling and melting points. Each entry is extremely thorough and contains links to related elements. The Pictorial Periodic Table is also easily searchable by atomic and covalent radius, density, boiling and melting point, electronegativity, ionization potential, heat properties, and atomic weight or number. In addition, users can perform keyword searches. Graphs and tables of element properties, alternative styles of periodic table (e.g., spiral, pyramid), a special page on isotopic properties, a printable table, and links to other periodic table pages are among the wealth of information provided. The site is provided by the Chemlab server of Phoenix College, AZ.

Heilman, Chris.



Hospitalization of Children with Down Syndrome  

PubMed Central

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

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



Potentiation of Excitotoxicity in HIV-1 Associated Dementia and the Significance of Glutaminase  

PubMed Central

HIV-1 Associated Dementia (HAD) is a significant consequence of HIV infection. Although multiple inflammatory factors contribute to this chronic, progressive dementia, excitotoxic damage appears to be an underlying mechanism in the neurodegenerative process. Excitotoxicity is a cumulative effect of multiple processes occurring in the CNS during HAD. The overstimulation of glutamate receptors, an increased vulnerability of neurons, and disrupted astrocyte support each potentiate excitotoxic damage to neurons. Recent evidence suggests that poorly controlled generation of glutamate by phosphate-activated glutaminase may contribute to the neurotoxic state typical of HAD as well as other neurodegenerative disorders. Glutaminase converts glutamine, a widely available substrate throughout the CNS to glutamate. Inflammatory conditions may precipitate unregulated activity of glutaminase, a potentially important mechanism in HAD pathogenesis. PMID:18059978

Erdmann, Nathan B.; Whitney, Nick P.; Zheng, Jialin



[Combined spinal-epidural anesthesia for a patient with HTLV-1 associated myelopathy].  


An 81-year-old female with HTLV-1 associated myelopathy (HAM) was scheduled for transurethral lithotomy. She had had paresthesia and spastic paresis in the lower extremities for the past 15 years. The preoperative respiratory function test revealed a vital capacity of 1.3 l (58% of the predicted value). We selected combined spinal-epidural anesthesia (CSEA) for her to avoid postoperative respiratory complications due to general anesthesia. After placement of a thoracic epidural catheter, spinal anesthesia was achieved by administration of bupivacaine 7.5 mg, resulting in the sensory block level to T 6, five min later. The intraoperative blood pressure remained high at 150-200 mmHg, in spite of the administration of nicardipine. Postoperatively, neither the deterioration in the neurological findings of HAM nor the exacerbation of respiratory function was observed. The present report suggests that CSEA can be one of the choices of anesthesia for a patient with HAM. PMID:25199333

Yokomizo, Taishi; Hiraki, Teruyuki; Mishima, Yasunori; Ushijima, Kazuo



CD4+ T cell subsets and Tax expression in HTLV-1 associated diseases  

PubMed Central

Human T lymphotropic virus type 1 (HTLV-1) infection displays variable clinical manifestations. These include inflammatory diseases such as HTLV-1 associated myelopathy (HAM) or immunosuppressive conditions such as Strongyloides stercoralis hyperinfection. The viral protein, Tax causes activation and proliferation of T cells. We hypothesize that the expression of Tax in T cell subsets characterizes the clinical manifestations of HTLV-1. To test this hypothesis, we measured T helper 1 effector cells and regulatory T cells (Tregs) among Tax expressing lymphocytes from peripheral blood mononuclear cells (PBMCs) of 32 HTLV-1 infected patients with HAM, with S. stercoralis co-infection or with asymptomatic infection. We observed increased ratios of Th1/Treg among Tax expressing lymphocytes in HAM patients. These data suggest that the expression of Tax among the different target cells may explain the variable presentation of HTLV-1. PMID:23816512

Barros, Nicolas; Risco, Jorge; Rodriguez, Carlos; Sanchez, Cesar; Gonzalez, Elsa; Tanaka, Yuetsu; Gotuzzo, Eduardo; Clinton White, A; Montes, Martin



Cell fate takes a slug in BRCA1-associated breast cancer  

PubMed Central

Understanding why BRCA1 mutation carriers have a predilection for developing clinically aggressive basal-like breast tumors could inform the development of targeted treatment or prevention strategies. Analysis of both mouse and human mammary epithelial cells has identified a role for BRCA1 in orchestrating differentiation. The ability to isolate discrete epithelial subpopulations from mammary tissue has recently directed attention to luminal progenitor cells - the descendants of mammary stem cells - as the likely 'cells-of-origin' in BRCA1-associated breast cancer. A new publication has confirmed the importance of aberrant luminal cells as key culprits and provided insights on how BRCA1 haploinsufficiency biases luminal cells toward a basal-like fate through aberrant expression of the transcription factor SLUG. PMID:21489318



Cell fate takes a slug in BRCA1-associated breast cancer.  


Understanding why BRCA1 mutation carriers have a predilection for developing clinically aggressive basal-like breast tumors could inform the development of targeted treatment or prevention strategies. Analysis of both mouse and human mammary epithelial cells has identified a role for BRCA1 in orchestrating differentiation. The ability to isolate discrete epithelial subpopulations from mammary tissue has recently directed attention to luminal progenitor cells - the descendants of mammary stem cells - as the likely 'cells-of-origin' in BRCA1-associated breast cancer. A new publication has confirmed the importance of aberrant luminal cells as key culprits and provided insights on how BRCA1 haploinsufficiency biases luminal cells toward a basal-like fate through aberrant expression of the transcription factor SLUG. PMID:21489318

Lindeman, Geoffrey J; Visvader, Jane E



p90 RSK-1 associates with and inhibits neuronal nitric oxide synthase  

PubMed Central

Evidence is presented that RSK1 (ribosomal S6 kinase 1), a downstream target of MAPK (mitogen-activated protein kinase), directly phosphorylates nNOS (neuronal nitric oxide synthase) on Ser847 in response to mitogens. The phosphorylation thus increases greatly following EGF (epidermal growth factor) treatment of rat pituitary tumour GH3 cells and is reduced by exposure to the MEK (MAPK/extracellular-signal-regulated kinase kinase) inhibitor PD98059. Furthermore, it is significantly enhanced by expression of wild-type RSK1 and antagonized by kinase-inactive RSK1 or specific reduction of endogenous RSK1. EGF treatment of HEK-293 (human embryonic kidney) cells, expressing RSK1 and nNOS, led to inhibition of NOS enzyme activity, associated with an increase in phosphorylation of nNOS at Ser847, as is also the case in an in vitro assay. In addition, these phenomena were significantly blocked by treatment with the RSK inhibitor Ro31-8220. Cells expressing mutant nNOS (S847A) proved resistant to phosphorylation and decrease of NOS activity. Within minutes of adding EGF to transfected cells, RSK1 associated with nNOS and subsequently dissociated following more prolonged agonist stimulation. EGF-induced formation of the nNOS–RSK1 complex was significantly decreased by PD98059 treatment. Treatment with EGF further revealed phosphorylation of nNOS on Ser847 in rat hippocampal neurons and cerebellar granule cells. This EGF-induced phosphorylation was partially blocked by PD98059 and Ro31-8220. Together, these data provide substantial evidence that RSK1 associates with and phosphorylates nNOS on Ser847 following mitogen stimulation and suggest a novel role for RSK1 in the regulation of nitric oxide function in brain. PMID:16984226

Song, Tao; Sugimoto, Katsuyoshi; Ihara, Hideshi; Mizutani, Akihiro; Hatano, Naoya; Kume, Kodai; Kambe, Toshie; Yamaguchi, Fuminori; Tokuda, Masaaki; Watanabe, Yasuo



Periodized Daubechies wavelets  

SciTech Connect

The properties of periodized Daubechies wavelets on [0,1] are detailed and counterparts which form a basis for L{sup 2}(R). Numerical examples illustrate the analytical estimates for convergence and demonstrated by comparison with Fourier spectral methods the superiority of wavelet projection methods for approximations. The analytical solution to inner products of periodized wavelets and their derivatives, which are known as connection coefficients, is presented, and their use ius illustrated in the approximation of two commonly used differential operators. The periodization of the connection coefficients in Galerkin schemes is presented in detail.

Restrepo, J.M.; Leaf, G.K.; Schlossnagle, G.



Genealogy of periodic trajectories  

SciTech Connect

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)

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



Changing the perspective on early development of Rett syndrome  

PubMed Central

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 speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection. PMID:23400005

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.



Different therapeutic efficacy of ketoconazole in patients with Cushing's syndrome  

Microsoft Academic Search

Summary The property of ketoconazole to inhibit adrenal biosynthesis of cortisol was used in a clinical study of 14 patients with Cushing's syndrome (pituitary-dependent Cushing's disease,n=10; adrenocortical adenoma,n=2; adrenocortical carcinoma,n=1; ectopic ACTH syndrome,n=1). Five patients were treated in a short-term manner (1000 mg over 24 h) and nine patients for a longer period (600 mg\\/die from 1 week up to

D. Engelhardt; K. Jacob; H. G. Doerr



Epidemiology of Down Syndrome  

ERIC Educational Resources Information Center

Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.



Thoracic outlet syndrome  


... hands. Problems with the nerves cause almost all cases of thoracic outlet syndrome. Pressure may happen if you have: An extra rib, above the first one An abnormal tight band connecting the spine to the ribs. People with this syndrome often ...


Redefining syndromic surveillance.  


With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field's capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries. PMID:23856373

Katz, Rebecca; May, Larissa; Baker, Julia; Test, Elisa



Battered woman syndrome.  


Recent judgments in the Court of Appeal have highlighted the significance of battered woman syndrome. This article describes the origin and features of the syndrome and some of its shortcomings. Medical aspects and legal applications of the concept are discussed. PMID:10696359

Dorkins, E; Smith, J



Munchausen Syndrome by Proxy  

PubMed Central

Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

Yaacob, B.M.J



Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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…

Wachtel, Tom J.; Pueschel, Siegfried M.



Esotropia in Kabuki syndrome.  


Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. The current patient shows esotropia and previously unreported nummular corneal opacities. PMID:21214160

Sharma, Pradeep; Dave, Vivek



Burning Mouth Syndrome  

Microsoft Academic Search

Burning mouth syndrome is characterized by a painful burning or stinging sensation affecting the tongue or other areas of the mouth without obvious signs of an organic cause on physical examination. A burning mouth sensation can occur in several cutaneous or systemic diseases that must be ruled out prior to making a diagnosis of burning mouth syndrome, since this term

C. Brufau-Redondo; R. Martín-Brufau; R. Corbalán-Velez; A. de Concepción-Salesa



The SAHA Syndrome  

Microsoft Academic Search

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.

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



What Causes Cushing's Syndrome?  


... by the adrenal glands. These tumors cause about 15% of endogenous Cushing’s syndrome cases. Children are more likely to have this type ... TOP-ik ) Cushing’s disease and accounts for about 15% of non-medicine-related Cushing’s syndrome cases. 1 The tumors, either benign or cancerous, are ...



Microsoft Academic Search

Given that a plant's defensive strategy against herbivory is never likely to be a single trait, we develop the concept of plant defense syndromes, where association with specific ecological interactions can result in convergence on suites of covarying defensive traits. Defense syndromes can be studied within communities of diverse plant species as well as within clades of closely related species.

Anurag A. Agrawal; Mark Fishbein



Shaken Baby Syndrome  

Microsoft Academic Search

Shaken Baby Syndrome is a serious form of child abuse, involving infants under the age of six months. Deliberately shaking an infant is often associated with frustration or anger, particularly when an infant will not stop crying. The shaking results in numerous initial and long-term consequences for the developing infant. In its most severe form Shaken Baby Syndrome results in

Shannon LaEace Macdonald; Christine A. Helfrich



Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

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.

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



The Othello Syndrome  

PubMed Central

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

Famuyiwa, Oluwole O.; Ekpo, Micheal



The Othello syndrome.  


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

Famuyiwa, O O; Ekpo, M



Thoracic Outlet Syndrome  

Microsoft Academic Search

\\u000a Thoracic outlet syndrome (TOS) is a neurovascular entrapment syndrome of the upper extremity. It is most broadly separated\\u000a into vasculogenic (V-TOS) and neurogenic (N-TOS) subtypes. TOS occurs relatively rarely in sports but can be devastating when\\u000a it does.

Scott Laker; William J. Sullivan; Thomas A. Whitehill


Arterial thoracic outlet syndrome  

Microsoft Academic Search

Thoracic outlet syndrome (TOS) is a well described upper extremity disorder comprising neurovascular complications caused by thoracic outlet compression. By far neurogenic thoracic outlet syndrome is the most common manifesta- tion of this disorder. Arterial complications of thoracic outlet compression are much rarer, accounting for less than 5% of all operations performed for TOS. Major arterial degenerative and thromboembolic complications

Gerald M. Patton


The CHILD syndrome  

Microsoft Academic Search

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

R. Happle; H. Koch; W. Lenz



Polycystic Ovary Syndrome  


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 ...


White-Nose Syndrome  

NSDL National Science Digital Library

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.

Douglas Stemke (University of Indianapolis ;)



A randomised, controlled study of dietary intervention in autistic syndromes.  


Impaired social interaction, communication and imaginative skills characterize autistic syndromes. In these syndromes urinary peptide abnormalities, derived from gluten, gliadin, and casein, are reported. They reflect processes with opioid effect. The aim of this single blind study was to evaluate effect of gluten and casein-free diet for children with autistic syndromes and urinary peptide abnormalities. A randomly selected diet and control group with 10 children in each group participated. Observations and tests were done before and after a period of 1 year. The development for the group of children on diet was significantly better than for the controls. PMID:12168688

Knivsberg, A M; Reichelt, K L; Hřien, T; Nřdland, M



Hypoplastic left heart syndrome in PAGOD syndrome.  


Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami



Atraumatic painless compartment syndrome.  


Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

Blanchard, Scott; Griffin, Gregory D; Simon, Erin L



Your First Period  


... often should I change my tampon? • What are menstrual cups? • Does having a period cause pain or discomfort? • ... need to change it more often. What are menstrual cups? Menstrual cups are made of plastic or rubber. ...


The Periodic Table CD.  

ERIC Educational Resources Information Center

Describes the characteristics of the digitized version of The Periodic Table Videodisc. Provides details about the organization of information and access to the data via Macintosh and Windows computers. (DDR)

Banks, Alton J.; Holmes, Jon L.



Setting the Periodic Table.  

ERIC Educational Resources Information Center

Examines problems resulting from different forms of the periodic table, indicating that New York State schools use a form reflecting the International Union of Pure and Applied Chemistry's 1984 recommendations. Other formats used and reasons for standardization are discussed. (DH)

Saturnelli, Annette



Effects of periodic discharges  

NASA Technical Reports Server (NTRS)

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.

Ford, F. E.



Pas: Portugal Period.: Diria  

E-print Network País: Portugal Period.: Diária �mbito: Online Pag.: 1 de 2ID: 42336054 16-06-2012 16 DE". @ Agência Lusa Partilhar: Comentários Critério de publicação de comentários Facebook Twitter Gosto Facebook: Portugal Period.: Diária �mbito: Online Pag.: 2 de 2ID: 42336054 16-06-2012 PUBLICIDADE PUBLICIDADE BANCA

Instituto de Sistemas e Robotica


Neonatal Sweet syndrome: a potential marker of serious systemic illness.  


Sweet syndrome is an inflammatory disease characterized by fever and painful erythematous plaques with a dermal neutrophilic infiltrate. It is most common in adults, where it is often parainflammatory or paraneoplastic, but is rare in children. We describe 3 cases of neonatal Sweet syndrome, including 1 patient who had myelodysplastic syndrome and immunodeficiency, the first report of a premalignancy underlying infantile Sweet syndrome. We reviewed the literature on patients presenting with neutrophilic dermatosis in the first 6 months of life. Of 20 cases, 6 had a probable viral etiology, 4 primary immunodeficiencies, 3 neonatal lupus syndrome, 1 gastrointestinal involvement, 1 HIV, and 5 probable genetic cases. Three of these had chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, caused by mutations in the PSMB8 gene. Most children who presented within the first 6 weeks of life had either a serious underlying condition, such as primary immunodeficiency, or a genetic Sweet syndrome, with 2 fatalities among this latter group. The outcome of postinfective cases was good. Extracutaneous involvement was unusual, whereas postinflammatory scarring and cutis laxa occurred in a minority of patients. In conclusion, Sweet syndrome in the neonatal period often heralds a serious underlying disorder and requires thorough investigation. PMID:22508923

Gray, Paul E A; Bock, Vanessa; Ziegler, David S; Wargon, Orli



[Asthenic syndrome in patients with burnout syndrome].  


The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research. PMID:24429944

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A



The nevoid basal cell carcinoma syndrome--Gorlin's syndrome. Multiple jaw cysts and skin cancer.  


The nevoid basal cell carcinoma (NBS) syndrome with its characteristic multiple cysts of the jaws and skin cancer is of great interest to the dentist, the dermatologist and the oncologist. The dentist may have the opportunity of making an early diagnosis as the multiple cysts appear mostly in the ramus of the lower jaw. There is a great risk of recurrence as surgical removal is often very complicated. The disease is hereditary and is transmitted through females. The skin cancer can in most cases be treated surgically. It is essential that the family with the syndrome is investigated regularly and at periods of about six months. PMID:2799659

Gustafson, G; Lindahl, B; Dahl, E; Svensson, A



Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.  

PubMed Central

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome, and two further familial cases. We emphasise the low index of suspicion by paediatricians and paediatric subspecialists which resulted in delayed diagnosis and delayed treatment for the hypernasal speech and velopharyngeal insufficiency for periods of four months to seven years. Images PMID:1956057

Lipson, A H; Yuille, D; Angel, M; Thompson, P G; Vandervoord, J G; Beckenham, E J



Maffucci's syndrome with oral manifestations.  


Maffucci's syndrome is a rare congenital mesodermal dysplasia combined with dyschondroplasia and hemangiomatosis. About 150 cases have been reported till now. Maffucci's syndrome is often combined with other neoplasms. Herein, we report a patient with Maffucci's syndrome and hemangiomas on the dorsum of the tongue, which is rare in this syndrome. PMID:19566364

Lotfi, Ali; Moshref, Mohammad; Varshosaz, Masoud; Jaberi-Ansari, Shahrzad; Ghafouri, Arash



Is the benign joint hypermobility syndrome benign?  

Microsoft Academic Search

Summary Over a period of two years, joint hypermobility was identified in 95 female and 19 male patients who attended rheumatology and rehabilitation units in Ismailia city. Pauciarticular pains referring to large and medium-sized joints was their most frequent complaint. Clinical diagnosis of carpal and\\/or tarsal tunnel syndromes was made in 45.6% of patients, and various forms of soft tissue

Hassan A. El-Shahaly; Assem K. El-Sherif



The cardiofaciocutaneous syndrome  

PubMed Central

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward?slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain?of?function mutations in four different genes BRAF, KRAS, mitogen?activated protein/extracellular signal?regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal?regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP?2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. PMID:16825433

Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G



Sodium and water disturbances in patients with Sheehan[apos ]s syndrome  

Microsoft Academic Search

Sheehan[apos ]s syndrome has been attributed to ischemic damage of the pituitary gland or hypothalamic-pituitary stalk during the peripartum period. Well-described clinical features of Sheehan[apos ]s syndrome include hypothyroidism, adrenal insufficiency, hypogonadism, growth hormone deficiency, hypoprolactinemia, and different sodium and water disturbances. The occurrence of sodium and water disturbances associated with Sheehan[apos ]s syndrome depends on the degree of pituitary

Phuong-Chi T. Pham; Phuong-Anh T. Pham; Phuong-Thu T. Pham



Enteroviral RNA sequences detected by polymerase chain reaction in muscle of patients with postviral fatigue syndrome  

Microsoft Academic Search

OBJECTIVE--To determine the presence of enteroviral sequences in muscle of patients with the postviral fatigue syndrome. DESIGN--Detection of sequences with the polymerase chain reaction in a well defined group of patients with the syndrome and controls over the same period. SETTING--Institute of Neurological Sciences, Glasgow. SUBJECTS--60 consecutive patients admitted to the institute with the postviral fatigue syndrome who had undergone

J W Gow; W M Behan; G B Clements; C Woodall; M Riding; P O Behan



Personality and metabolic syndrome.  


The prevalence of metabolic syndrome has paralleled the sharp increase in obesity. Given its tremendous physical, emotional, and financial burden, it is of critical importance to identify who is most at risk and the potential points of intervention. Psychological traits, in addition to physiological and social risk factors, may contribute to metabolic syndrome. The objective of the present research is to test whether personality traits are associated with metabolic syndrome in a large community sample. Participants (N = 5,662) from Sardinia, Italy, completed a comprehensive personality questionnaire, the NEO-PI-R, and were assessed on all components of metabolic syndrome (waist circumference, triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose). Logistic regressions were used to predict metabolic syndrome from personality traits, controlling for age, sex, education, and current smoking status. Among adults over age 45 (n = 2,419), Neuroticism and low Agreeableness were associated with metabolic syndrome, whereas high Conscientiousness was protective. Individuals who scored in the top 10% on Conscientiousness were approximately 40% less likely to have metabolic syndrome (OR = 0.61, 95% CI = 0.41-0.92), whereas those who scored in the lowest 10% on Agreeableness were 50% more likely to have it (OR = 1.53, 95% CI = 1.09-2.16). At the facet level, traits related to impulsivity and hostility were the most strongly associated with metabolic syndrome. The present research indicates that those with fewer psychological resources are more vulnerable to metabolic syndrome and suggests a psychological component to other established risk factors. PMID:20567927

Sutin, Angelina R; Costa, Paul T; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio



Renormalization of periodic potentials  

NASA Astrophysics Data System (ADS)

The renormalization of the periodic potential is investigated in the framework of the Euclidean one-component scalar field theory by means of the differential RG approach. Some known results about the sine-Gordon model are recovered in an extremely simple manner. There are two phases: an ordered one with asymptotical freedom and a disordered one where the model is nonrenormalizable and trivial. The order parameter of the periodicity, the winding number, indicates spontaneous symmetry breaking in the ordered phase where the fundamental group symmetry is broken and the solitons acquire dynamical stability. It is argued that the periodicity and the convexity are such strong constraints on the effective potential that it always becomes flat. This flattening is reproduced by integrating out the RG equation.

Nándori, I.; Polonyi, J.; Sailer, K.



Coaxial periodic optical waveguide.  


Guided modes in a dielectric waveguide structure with a coaxial periodic multi-layer are investigated by using a matrix formula with Bessel functions. We show that guided modes exist in the structure, and that the field is confined in the core which consists of the optically thinner medium. The dispersion curves are discontinuous, so that the modes can exist only in particular wavelength bands corresponding to the stop bands of the periodic structure of the clad. It is possible that the waveguide structure can be applied to filters or optical fibers to reduce nonlinear effects. PMID:19404364

Kawanishi, T; Izutsu, M



ACS Periodic Table  

NSDL National Science Digital Library

This Web site from the American Chemical Society features an interactive Periodic Table with the use of Shockwave. The information presented is divided into three sections. In the first, Periodic Table, students will find attributes such as melting point and molar heat capacity for the elements. The second part illustrates the electron configurations of each of the elements, helping students to better understand the concept. The last section allows users to plot data based on the elements' attributes including atomic radius and electro negativity. Working with this site, high school and college students are able to improve their chemical knowledge.


Periodic Table Live!  

NSDL National Science Digital Library

Periodic Table Live!, produced by the Division of Chemical Education at the University of Wisconsin-Madison, allows users "to explore a broad range of information about the elements, their reactions, their properties, their structures and their histories." After selecting an element from the periodic table, users can access a myriad of information divided into three sections: Description, Physical, and Atomic. Students can view short videos of many of the elements' reactions with air, water, acids, and bases. The website is equipped with a helpful glossary and images of the elements, scientists, and other related items.


Systems Biology Approaches Reveal a Specific Interferon-Inducible Signature in HTLV-1 Associated Myelopathy  

PubMed Central

Human T-lymphotropic virus type 1 (HTLV-1) is a retrovirus that persists lifelong in the host. In ?4% of infected people, HTLV-1 causes a chronic disabling neuroinflammatory disease known as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). The pathogenesis of HAM/TSP is unknown and treatment remains ineffective. We used gene expression microarrays followed by flow cytometric and functional assays to investigate global changes in blood transcriptional profiles of HTLV-1-infected and seronegative individuals. We found that perturbations of the p53 signaling pathway were a hallmark of HTLV-1 infection. In contrast, a subset of interferon (IFN)-stimulated genes was over-expressed in patients with HAM/TSP but not in asymptomatic HTLV-1 carriers or patients with the clinically similar disease multiple sclerosis. The IFN-inducible signature was present in all circulating leukocytes and its intensity correlated with the clinical severity of HAM/TSP. Leukocytes from patients with HAM/TSP were primed to respond strongly to stimulation with exogenous IFN. However, while type I IFN suppressed expression of the HTLV-1 structural protein Gag it failed to suppress the highly immunogenic viral transcriptional transactivator Tax. We conclude that over-expression of a subset of IFN-stimulated genes in chronic HTLV-1 infection does not constitute an efficient host response but instead contributes to the development of HAM/TSP. PMID:22291590

Tattermusch, Sonja; Skinner, Jason A.; Chaussabel, Damien; Banchereau, Jacques; Berry, Matthew P.; McNab, Finlay W.; O'Garra, Anne; Taylor, Graham P.; Bangham, Charles R. M.



Radiation Therapy in Management of Sporadic and Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors  

PubMed Central

Introduction: Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive soft tissue sarcomas in which complete surgical resection is the mainstay of therapy. However, the recurrence rate is high and few options remain for refractory or metastatic MPNST. This study examines the outcomes of adjuvant radiation therapy in MPNST in patients with and without neurofibromatosis type 1 (NF1) and reviews the literature on use of radiation for MPNST. Methods: A retrospective review of 33 MPNST patients between 1990 and 2012 evaluated at the NIH. All diagnoses were pathologically confirmed at the NCI. Clinical presentation, treatment, and survival were analyzed. Results: Thirty-three patients were included 18 NF1-associated, 15 sporadic tumors. Tumor location included extremity (58%), trunk (36%), and head/neck (6%). Histologic grade showed 25 high-grade tumors compared to 7 low-grade tumors. Twenty patients were treated with radiation therapy (median total dose of 58.5?Gy with 1.8?Gy/fraction). A median survival of all patients was 46.5?months and 43.7% overall 5-year survival. Prognostic factors include extent of resection, tumor location, and histology grade. Radiation was not found to be a prognostic factor for overall survival. Conclusion: This study is consistent with previous studies regarding the role of radiation in the management of MPNST. Prospective evaluation of adjuvant radiation will allow to more fully define the role of radiation in MPNST.

Kahn, Jenna; Gillespie, Andy; Tsokos, Maria; Ondos, John; Dombi, Eva; Camphausen, Kevin; Widemann, Brigitte C.; Kaushal, Aradhana



Role of resident CNS cell populations in HTLV-1-associated neuroinflammatory disease.  


Human T cell leukemia virus type 1 (HTLV-1), the first human retrovirus discovered, is the etiologic agent for a number of disorders; the two most common pathologies include adult T cell leukemia (ATL) and a progressive demyelinating neuroinflammatory disease, HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). The neurologic dysfunction associated with HAM/TSP is a result of viral intrusion into the central nervous system (CNS) and the generation of a hyperstimulated host response within the peripheral and central nervous system that includes expanded populations of CD4+ and CD8+ T cells and proinflammatory cytokines/chemokines in the cerebrospinal fluid (CSF). This robust, yet detrimental immune response likely contributes to the death of myelin producing oligodendrocytes and degeneration of neuronal axons. The mechanisms of neurological degeneration in HAM/TSP have yet to be fully delineated in vivo and may involve the immunogenic properties of the HTLV-1 transactivator protein Tax. This comprehensive review characterizes the available knowledge to date concerning the effects of HTLV-1 on CNS resident cell populations with emphasis on both viral and host factors contributing to the genesis of HAM/TSP. PMID:19273122

Lepoutre, Veronique; Jain, Pooja; Quann, Kevin; Wigdahl, Brian; Khan, Zafar K



Young Stars in the Camelopardalis Dust and Molecular Clouds. I. The Cam OB1 Association  

E-print Network

The distribution of dust and molecular clouds in the direction of Galactic longitudes 132--158 deg and latitudes pm 12 deg is investigated. The maps of dust distribution in the area were plotted from the following surveys: the star counts in the DSS I database by Dobashi et al. (2005), the survey of the average infrared color excesses by Froebrich et al. (2007) and the thermal dust emission survey at 100 micrometers by Schlegel et al. (1998). The distribution of molecular clouds was taken from the whole sky CO survey by Dame et al. (2001). All these surveys show very similar cloud patterns in the area. Using the radial velocities of CO, the distances to separate clouds are estimated. A revised list of the Cam OB1 association members contains 43 stars and the open cluster NGC 1502. 18 young irregular variable and H alpha emission stars are identified in the area. All this proves that the star forming process in the Camelopardalis clouds is still in progress.

V. Straizys; V. Laugalys



Global Stress Response in a Prokaryotic Model of DJ-1-Associated Parkinsonism  

PubMed Central

YajL is the most closely related Escherichia coli homolog of Parkinsonism-associated protein DJ-1, a protein with a yet-undefined function in the oxidative-stress response. YajL protects cells against oxidative-stress-induced protein aggregation and functions as a covalent chaperone for the thiol proteome, including FeS proteins. To clarify the cellular responses to YajL deficiency, transcriptional profiling of the yajL mutant was performed. Compared to the parental strain, the yajL mutant overexpressed genes coding for chaperones, proteases, chemical chaperone transporters, superoxide dismutases, catalases, peroxidases, components of thioredoxin and glutaredoxin systems, iron transporters, ferritins and FeS cluster biogenesis enzymes, DNA repair proteins, RNA chaperones, and small regulatory RNAs. It also overexpressed the RNA polymerase stress sigma factors sigma S (multiple stresses) and sigma 32 (protein stress) and activated the OxyR and SoxRS oxidative-stress transcriptional regulators, which together trigger the global stress response. The yajL mutant also overexpressed genes involved in septation and adopted a shorter and rounder shape characteristic of stressed bacteria. Biochemical experiments showed that this upregulation of many stress genes resulted in increased expression of stress proteins and improved biochemical function. Thus, protein defects resulting from the yajL mutation trigger the onset of a robust and global stress response in a prokaryotic model of DJ-1-associated Parkinsonism. PMID:23292772

Messaoudi, Nadia; Gautier, Valerie; Kthiri, Fatoum; Lelandais, Gaelle; Mihoub, Mouadh; Joseleau-Petit, Daniele; Caldas, Teresa; Bohn, Chantal; Tolosa, Leah; Rao, Govind; Tao, Kazuyuki; Landoulsi, Ahmed; Bouloc, Philippe



Reconstructing the course of HIV-1-associated progressive encephalopathy in children.  


The factors that trigger the clinical onset of HIV-1-associated progressive encephalopathy (PE) in children remain unknown. HIV-1 invades the central nervous system (CNS) from the very beginning of infection, but the timeframe for PE development is variable. It has recently been suggested that increased traffic into the brain of HIV-1-infected or activated monocytes arising directly from the bone marrow may be the first step to clinical onset of adult HIV encephalopathy. The determining factor for this enhanced recruitment of blood monocytes into the CNS in adults has been postulated to be increased HIV-1 replication. However, children usually exhibit high levels of viral load beginning in the first months of life, even under very aggressive antiretroviral therapy. PE in children represents a unique form of CNS involvement of HIV, much more common, early, and devastating for children than for adults, representing in fact an independent cause of mortality. In the light of recent literature on this issue and our own in vitro and in vivo results the possible mechanisms implicated in the pathogenesis of PE are discussed. We propose that CD8+ T-lymphocytes would be the nexus for all the various aspects of the disease, namely the loss of control over HIV-1 replication, increased traffic of activated monocytes, the spread of infection to immune sanctuaries and finally the neurological emergence of PE. Possible new biologic markers PMID:12395135

Sánchez-Ramón, Silvia; Cantó-Nogués, Carmen; Muńoz-Fernández, Angeles



Neuropathogenesis of HIV-1-associated neurocognitive disorders: a possible involvement of D-serine  

PubMed Central

A unique feature of N-methyl-D-aspartate receptors (NMDARs) that distinguishes them from other ionic receptors is that their activation requires more than one agonist to bind simultaneously to distinct binding sites on the receptor. D-serine, a co-agonist binding to the glycine site of NMDARs, has been implicated in several NMDAR-dependent physiological processes, and altered D-serine levels under certain pathophysiological conditions contribute to neural dysfunction via NMDARs in the central nervous system. Entry of HIV-1 in the brain causes neuronal injury leading to cognitive, behavioral and motor impairments known as HIV-associated neurocognitive disorders (HAND). As HIV-1 does not infect neurons, neuronal injury is believed to be primarily mediated by an indirect mechanism,that is, HIV-1-infected and/or immune-activated macrophages and microglial cells release soluble molecules leading to neuronal injury or death. Among the soluble factors is D-serine. In this article we try to address recent progresses on the role D-serine might play in the pathogenesis of neurodegenerative disorders with a particular emphasis of the involvement of D-serine in HIV-1-associated neurotoxicity. PMID:24044033

Xia, Jianxun; Xiong, Huangui



Joint hypermobility syndrome.  


Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement. PMID:23597972

Fikree, Asma; Aziz, Qasim; Grahame, Rodney



[Stiff-man syndrome].  


The Stiff-man syndrome is a rare disease, which is characterized by continuous muscular rigidity and painful muscle spasm. Although large dose diazepam, baclofen, clonazepam, or clonidine benefit the symptoms significantly, the pathophysiology had been unknown until recently. In 1988 and 1990, Solimena et al. reported autoantibody against glutamic acid decarboxylase in sera and cerebrospinal fluids. Plasmapheresis was then applied to a patient with this syndrome, and the symptoms and the electromyographic activities decreased dramatically. The syndrome is likely to be an autoimmune disease, but further detailed studies are required as to the cause and pathophysiology and immunological treatment must should be established. PMID:8277586

Shindo, M



Shaken baby syndrome.  


1. Child abuse, in the form of Shaken Baby syndrome, has reached a critical level. 2. Education on a national level is crucial for change to help save the victims of Shaken Baby syndrome. The national statistics for child abuse reinforce that the United States must deal with the issue and focus on education. 3. Health care providers are in a strategic position to offer primary and secondary prevention interventions, to identify families at risk, and to recognize victims of Shaken Baby syndrome. PMID:7500305

Butler, G L



Tic disorders and Tourette's syndrome.  


Diagnostic categories of tic disorders include both transient and chronic tic disorders and Tourette's disorder. Changes for this group of disorders proposed for the forthcoming DSM-5 system include: (1) The term "stereotyped" will be eliminated in the definition of tics and the new definition will be applied consistently across all entities of tic disorders; (2) the diagnosis "Transient Tic Disorder" will change its name to "Provisional Tic Disorder"; (3) introduction of two new categories in individuals whose tics are triggered by illicit drugs or by a medical condition; (4) specification of chronic tic disorders into those with motor tics or with vocal tics only; (5) specification of the absence of a period longer than 3 months without tics will disappear for Tourette's Disorder. This overview discusses a number of implications resulting from these diagnostic modifications of the diagnostic classifications for use in the clinics. European guidelines for "Tourette's syndrome and other Tic disorders" were published in 2011 in the ECAP by the "European Society for the Study of Tourette Syndrome". The guidelines emphasize the complexity of these neuropsychiatric disorders that require interdisciplinary cooperation between medical professionals, but also patients, parents and teachers for planning of treatment. The main conclusion derived from the guideline for pharmacological treatment is the urgent need for rigorous studies that address the effectiveness of anti-tic medications. The guidelines also emphasize the importance of facilitating the dissemination of several behavioral treatment approaches, such as "Exposure Response Prevention", yet the most well documented being "Habit Reversal Training". PMID:23224240

Plessen, Kerstin J



Log periodic dipole arrays  

Microsoft Academic Search

A new class of coplanar dipole arrays is introduced. The antennas described provide unidirectional radiation patterns of constant beamwidth and nearly constant input impedances over any desired bandwidth. The broad-band properties are achieved by making use of the principles of log periodic antenna design. Models are discussed which are capable of providing 8- to 9-db directive gain with an associated

D. Isbell



MADS for periodic variables  

E-print Network

May 19, 2009 ... and the internal structure of the black box are not exploitable. Pattern ... where ? is a subset of Rn and the function f is periodic with respect to the ..... to differentiate healthy cells from ill cells for the detection of tumors (problem ...

Sébastien Le Digabel



Periodically oscillating plasma sphere  

Microsoft Academic Search

The periodically oscillating plasma sphere, or POPS, is a novel fusion concept first proposed by D. C. Barnes and R. A. Nebel [Fusion Technol. 38, 28 (1998)]. POPS utilizes the self-similar collapse of an oscillating ion cloud in a spherical harmonic oscillator potential well formed by electron injection. Once the ions have been phase-locked, their coherent motion simultaneously produces very

R. A. Nebel; S. Stange; S. Krupakar Murali



Periodicals Digitization Unit  

E-print Network

Group Study/ Classroom Science Reference NewScience Books ::: ::: Science Reference Eisenberg Room White PT - PO CopierAssigned Carrels Art Reference Assigned Carrels BluePR-PS BluePR-PR Carrels Blue PR Books Copy/ Print Current Periodicals Newspapers :: :: Lounge Reference:: :: :: :: :: ::: :: :: : : : GS

Weaver, Harold A. "Hal"


Periodic Classification of Elements  

Microsoft Academic Search

To the three requirements of a modern Periodic Table, as stated by A. A. Clifford1, must be added a fourth, namely, that it should be in as close accord as possible with chemical facts, and above all with the most fundamental of these, valency. It is only in Group IV that there is any strong chemical support for the sub-group

W. P. Thistlethwaite



Doubly periodic textile patterns  

Microsoft Academic Search

Knitted and woven textile structures are examples of doubly periodic structures in a thickened plane made out of intertwining strands of yarn. Factoring out the group of translation symmetries of such a structure gives rise to a link diagram in a thickened torus. Such a diagram on a standard torus is converted into a classical link by including two auxiliary

H. R. Morton; S. Grishanov



TRAINING PERIOD 2013 Telecommunication  

E-print Network

TRAINING PERIOD 2013 Telecommunication Training title: Development and calibration telecommunication surveillance system. The training candidate will be integrated to the project team, in charge. The proposed training is thus focused on the development and calibration of an experimental multi-channel VHF

Dobigeon, Nicolas


Astrophysical implications of periodicity  

NASA Technical Reports Server (NTRS)

Two remarkable discoveries of the last decade have profound implications for astrophysics and for geophysics. These are the discovery by Alvarez et al., that certain mass extinctions are caused by the impact on the earth of a large asteroid or comet, and the discovery by Raup and Sepkoski that such extinctions are periodic, with a cycle time of 26 to 30 million years. The validity of both of these discoveries is assumed and the implications are examined. Most of the phenomena described depend not on periodicity, but just on the weaker assumption that the impacts on the earth take place primarily in showers. Proposed explanations for the periodicity include galactic oscillations, the Planet X model, and the possibility of Nemesis, a solar companion star. These hypotheses are critically examined. Results of the search for the solar companion are reported. The Deccan flood basalts of India have been proposed as the impact site for the Cretaceous impact, but this hypotheisis is in contradiction with the conclusion of Courtillot et al., that the magma flow began during a period of normal magnetic field. A possible resolution of this contradiction is proposed.

Muller, Richard A.



Periodic Table of Students.  

ERIC Educational Resources Information Center

Presents an exercise in which an eighth-grade science teacher decorated the classroom with a periodic table of students. Student photographs were arranged according to similarities into vertical columns. Students were each assigned an atomic number according to their placement in the table. The table is then used to teach students about…

Johnson, Mike



A Modern Periodic Table.  

ERIC Educational Resources Information Center

Presents a modern Periodic Table based on the electron distribution in the outermost shell and the order of filling of the sublevels within the shells. Enables a student to read off directly the electronic configuration of the element and the order in which filling occurs. (JRH)

Herrenden-Harker, B. D.



Epidemiology, Treatment, and Prevention of Human T-Cell Leukemia Virus Type 1-Associated Diseases  

PubMed Central

Summary: Human T-cell leukemia virus type 1 (HTLV-1), the first human retrovirus to be discovered, is present in diverse regions of the world, where its infection is usually neglected in health care settings and by public health authorities. Since it is usually asymptomatic in the beginning of the infection and disease typically manifests later in life, silent transmission occurs, which is associated with sexual relations, breastfeeding, and blood transfusions. There are no prospects of vaccines, and screening of blood banks and in prenatal care settings is not universal. Therefore, its transmission is active in many areas such as parts of Africa, South and Central America, the Caribbean region, Asia, and Melanesia. It causes serious diseases in humans, including adult T-cell leukemia/lymphoma (ATL) and an incapacitating neurological disease (HTLV-associated myelopathy/tropical spastic paraparesis [HAM/TSP]) besides other afflictions such as uveitis, rheumatic syndromes, and predisposition to helminthic and bacterial infections, among others. These diseases are not curable as yet, and current treatments as well as new perspectives are discussed in the present review. PMID:20610824

Goncalves, Denise Utsch; Proietti, Fernando Augusto; Ribas, Joao Gabriel Ramos; Araujo, Marcelo Grossi; Pinheiro, Sonia Regina; Guedes, Antonio Carlos; Carneiro-Proietti, Anna Barbara F.



Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability  

PubMed Central

Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine. Although many genes involved in ID have been identified, the etiology is unknown in most affected individuals. Moreover, the function of most genes associated with ID remains poorly characterized. Evidence is accumulating that the control of gene transcription through epigenetic modification of chromatin structure in neurons has an important role in cognitive processes and in the etiology of ID. However, our understanding of the key molecular players and mechanisms in this process is highly fragmentary. Here, we identify a chromatin-modification module that underlies a recognizable form of ID, the Kleefstra syndrome phenotypic spectrum (KSS). In a cohort of KSS individuals without mutations in EHMT1 (the only gene known to be disrupted in KSS until now), we identified de novo mutations in four genes, MBD5, MLL3, SMARCB1, and NR1I3, all of which encode epigenetic regulators. Using Drosophila, we demonstrate that MBD5, MLL3, and NR1I3 cooperate with EHMT1, whereas SMARCB1 is known to directly interact with MLL3. We propose a highly conserved epigenetic network that underlies cognition in health and disease. This network should allow the design of strategies to treat the growing group of ID pathologies that are caused by epigenetic defects. PMID:22726846

Kleefstra, Tjitske; Kramer, Jamie M.; Neveling, Kornelia; Willemsen, Marjolein H.; Koemans, Tom S.; Vissers, Lisenka E.L.M.; Wissink-Lindhout, Willemijn; Fenckova, Michaela; van den Akker, Willem M.R.; Kasri, Nael Nadif; Nillesen, Willy M.; Prescott, Trine; Clark, Robin D.; Devriendt, Koenraad; van Reeuwijk, Jeroen; de Brouwer, Arjan P.M.; Gilissen, Christian; Zhou, Huiqing; Brunner, Han G.; Veltman, Joris A.; Schenck, Annette; van Bokhoven, Hans



Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.  


A subset of familial and sporadic amyotrophic lateral sclerosis (ALS-a fatal disorder characterised by progressive motor neuron degeneration) cases are due to mutations in the gene encoding Cu,Zn superoxide dismutase (SOD1). Two mutations which have been successfully used to generate transgenic mice that develop an ALS-like syndrome are glycine 85 to arginine (G85R) and glycine 93 to alanine (G93A) with the mutant SOD1 allele overexpressed in a normal mouse genetic background. No ALS-like phenotype is observed in mice overexpressing wild-type SOD1 or mice without any SOD1 activity. These dominant mutations, which do not necessarily decrease SOD1 activity, may confer a gain of function that is selectively lethal to motor neurons. The yeast interaction trap system allowed us to determine whether these mutations in SOD1 caused novel protein interactions not observed with wild-type SOD1 and which might participate in the generation of the ALS phenotype. Two proteins, lysyl-tRNA synthetase and translocon-associated protein delta, interact with mutant forms of SOD1 but not with wild-type SOD1. The specificity of the interactions was confirmed by the coimmunoprecipitation of mutant SOD1 and the expressed proteins. These proteins are expressed in ventral cord, lending support to the relevance of this interaction to motor neuron disease. PMID:8988176

Kunst, C B; Mezey, E; Brownstein, M J; Patterson, D



Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1  

PubMed Central

It is clear that FANCJ, also known as BACH1 or BRIP1, is an essential tumor suppressor gene based on the identification of clinically relevant mutations not only in breast cancer, but also the childhood cancer syndrome, Fanconi anemia. This conclusion is further supported by the direct and functional interaction between FANCJ and the hereditary breast cancer-associated gene product BRCA1. In the absence of the FANCJ DNA helicase or its interaction with BRCA1, cells have defects in several aspects of the DNA damage response. In particular, the BRCA1–FANCJ interaction is essential for promoting error-free repair, checkpoint control and for limiting DNA damage tolerance. As the number of FANCJ clinical mutations and affected patients accumulate, it will be critical to understand whether the associated tumors resemble BRCA-associated tumors. If so, FANCJ patients could also benefit from new therapies that selectively sensitize DNA repair-defective tumors and spare healthy cells. In this article, we summarize the breast cancer-associated FANCJ mutations and discuss functional outcomes for DNA repair and tumor suppression. PMID:21345144

Cantor, Sharon B; Guillemette, Shawna



TopBP1 associates with NBS1 and is involved in homologous recombination repair  

SciTech Connect

TopBP1 is involved in DNA replication and DNA damage checkpoint. Recent studies have demonstrated that TopBP1 is a direct positive effecter of ATR. However, it is not known how TopBP1 recognizes damaged DNA. Here, we show that TopBP1 formed nuclear foci after exposure to ionizing radiation, but such TopBP1 foci were abolished in Nijmegen breakage syndrome cells. We also show that TopBP1 physically associated with NBS1 in vivo. These results suggested that NBS1 might regulate TopBP1 recruitment to the sites of DNA damage. TopBP1-depleted cells showed hypersensitivity to Mitomycin C and ionizing radiation, an increased frequency of sister-chromatid exchange level, and a reduced frequency of DNA double-strand break induced homologous recombination repair. Together, these results suggested that TopBP1 might be a mediator of DNA damage signaling from NBS1 to ATR and promote homologous recombination repair.

Morishima, Ken-ichi [Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan); Sakamoto, Shuichi; Kobayashi, Junya [Department of Genome Dynamics, Radiation Biology Center, Kyoto University, Kyoto 606-8501 (Japan); Izumi, Hideki; Suda, Tetsuji; Matsumoto, Yoshiyuki [Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan); Tauchi, Hiroshi [Department of Environmental Sciences, Ibaraki University, Mito, Ibaraki 310-8512 (Japan); Ide, Hiroshi [Department of Mathematical and Life Sciences, Graduate School of Science, Hiroshima University, Higashi-Hiroshima, Hiroshima 739-8562 (Japan); Komatsu, Kenshi [Department of Genome Dynamics, Radiation Biology Center, Kyoto University, Kyoto 606-8501 (Japan); Matsuura, Shinya [Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan)], E-mail:



Facts about Down Syndrome  


... condition in which a person has an extra chromosome. Chromosomes are small â??packagesâ?ť of genes in the ... birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy ...


Childhood Nephrotic Syndrome  


... or infections that cause changes in kidney function in Glomerular Diseases Overview at . 1 Nephrotic syndrome. The Merck Manuals Online Medical Library. ...


Klippel-Trenaunay syndrome  


... 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 ...


Complex Regional Pain Syndrome  


Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...


Fragile X Syndrome  


Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...


National Down Syndrome Society  


... story and help ignite a new way of thinking about people with Down syndrome. Read More » Early Intervention The first years of life are a critical time in a child's development. All young children ...


Cushing syndrome - exogenous  


... a higher than normal level of the hormone cortisol. This hormone is made in the adrenal glands . ... suggest exogenous Cushing syndrome: Low ACTH level Low cortisol level No response to an ACTH stimulation test ...


Shaken baby syndrome  


... of whiplash, similar to what occurs in some auto accidents. Shaken baby syndrome does not result from ... with the child if you feel out of control. Contact a local crisis hotline or child abuse ...


Obesity Hypoventilation Syndrome  


... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...


Obesity hypoventilation syndrome (OHS)  


Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... control over breathing and excess weight (due to obesity) against the chest wall. This makes it hard ...


Families and Fragile Syndrome  

E-print Network

Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family includes not only scientists, researchers, and health care providers, but also children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 Social and emotional

Rau, Don C.


Sick building syndrome.  


Dr. Hodgson summarizes what is known about human symptoms and discomfort in the built environment, and formulates several critical hypotheses that show striking parallels to the questions arising from discussions of the IEI/MCS syndrome. PMID:10903551

Hodgson, M



Antiphospholipid Antibody Syndrome  


... fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body's immune system makes antibodies ... long term. If you have APS and another autoimmune disorder, it's important to control that condition as well. ...


Guillain-Barré Syndrome  


... lives and activities. What Is Guillain-Barré Syndrome? Experts believe that GBS is an autoimmune disorder . These happen when the immune system , which usually protects us by attacking any invading ...


Lesch-Nyhan syndrome  


... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Overexaggerated reflexes Spasticity Blood and urine tests may show high ...


Complex Regional Pain Syndrome  


... 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 ...


Chronic Fatigue Syndrome  


Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...


Acute Radiation Syndrome  


... Tools CDC Response, Japan 2011 Specific Hazards Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...


Learning about Turner Syndrome  


...] More from Medline Plus Turner Syndrome Society of the United States [] Encourages medical research, the dissemination of state-of-the-art TS information, and social support services to individuals, ...


Congenital nephrotic syndrome  


... 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 ...


Irritable bowel syndrome.  


The irritable bowel syndrome is a common disorder of gastrointestinal motility. Abdominal pain, bloating, and inconsistent bowel habits are the hallmark symptoms of irritable bowel syndrome. Fever, weight loss, and gastrointestinal bleeding often indicate more serious pathologic gastrointestinal conditions, such as inflammatory bowel disease or infectious enteritis. Because irritable bowel syndrome is so prevalent in our society, the primary care physician should be able to readily recognize the clinical features of this disorder in order to spare patients expensive, unnecessary diagnostic and therapeutic interventions. In this review, the authors discuss the clinical and psychological features of irritable bowel syndrome and offer a useful approach to the diagnosis and treatment of this disorder. PMID:1483881

Moscatello, S A; Cheskin, L J



Carpal Tunnel Syndrome  


... is collecting data about carpal tunnel syndrome among construction apprentices to better understand specific work factors associated ... and develop strategies to prevent its occurrence among construction and other workers. Scientists are also investigating the ...


Toxic shock syndrome  


... by a toxin produced by certain types of Staphylococcus bacteria. A similar syndrome, called toxic shock-like ... men. Risk factors include: Recently having a baby Staphylococcus aureus ( S. aureus ) infection, commonly called a Staph infection ...


Carpal Tunnel Syndrome  


... tunnel syndrome may have trouble typing on the computer or playing a video game. In fact, repetitive ... times as many women as men have CTS. Computer operators, assembly-line workers, and hair stylists are ...


Computer Vision Syndrome  


... pain These symptoms may be caused by: poor lighting glare on the computer screen improper viewing distances ... Computer Vision Syndrome involves taking steps to control lighting and glare on the computer screen, establishing proper ...


Crigler-Najjar syndrome  


... is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be ... syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed ...


Ectopic Cushing syndrome  


... Cushing syndrome have: Round, red, and full face ( moon face ) Slow growth rate in children Weight gain ... urine sample to measure cortisol and creatinine levels Blood tests to check ACTH, cortisol , and potassium levels ...


[Paraneoplastic neurological syndromes].  


Paraneoplastic neurological syndromes (PNS) are uncommon and defined by an acute or subacute neurological syndrome associated with a cancer. These syndromes often antedate the diagnostis of the underlying neoplasia that is usually not clinically evident. An early diagnosis is the main condition for a better neurological and carcinologic outcome. Subacute cerebellar ataxia, subacute sensitive neuropathy, limbic encephalomyelitis, Lambert-Eaton myasthenic syndrome, opsoclonus myoclonus, dermatopolymyositis and intestinal pseudo-obstruction belong to the well-characterized PNS and their presence must lead to onconeuronal antibodies (ONA) detection. Treatment of the underlying neoplasia is the mainstay of treatment to obtain a better outcome. However, recent findings lead to consider immunological specific treatment according to the subtype of associated ONA. PNS associated with ONA targeting membrane antigens are thus usually responsive to immunomodulator therapies. Conversely, PNS associated with ONA targeting intracellular antigens are of poor outcome despite mild improvement under immunosuppressive therapies in some patients. PMID:21036427

Didelot, A; Honnorat, J



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

Microsoft Academic Search

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

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



Aging of Hutchinson–Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis  

Microsoft Academic Search

Hutchinson–Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease. We show here that cellular aging of Hutchinson–Gilford progeria syndrome fibroblasts is characterised by a period of hyperproliferation and terminates with a large increase in the rate of

Joanna M Bridger; Ian R Kill



Aging of Hutchinson -Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis  

Microsoft Academic Search

Hutchinson - Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease. We show here that cellular aging of Hutchinson - Gilford progeria syndrome fibroblasts is characterised by a period of hyperproliferation and terminates with a large increase

Joanna M. Bridger; Ian R. Kill



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

Microsoft Academic Search

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.

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



[Juvenile polyposis syndrome].  


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

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



Williams-Beuren Syndrome  

Microsoft Academic Search

Williams-Beuren syndrome (WBS; also called Williams syndrome) is a multisystem developmental disorder that is almost always\\u000a associated with an approx 1.5-Mb deletion of chromosome 7q11.23 (OMIM no. 194050). The deletion was identified in 1993 based\\u000a on the observation of phenotypic overlap with supravalvular aortic stenosis (SVAS), a distinct autosomal dominant disorder\\u000a affecting the cardiovascular system (1). It has since been

Stephen W. Scherer; Lucy R. Osborne


Hennekam lymphangiectasia syndrome  

PubMed Central

Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.



Adams-Oliver syndrome.  


A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cutis on the scalp. There was no systemic involvement. The patient was placed on regular follow-up. PMID:24906278

Iftikhar, Nadia; Ahmad Ghumman, Faisal Iftikhar; Janjua, Shahbaz A; Ejaz, Amer; Butt, Umar Aftab



Eltrombopag in Good's Syndrome  

PubMed Central

Good's syndrome is a rare acquired immunodeficiency associated with thymoma. Eltrombopag is a thrombopoietin receptor agonist and has been shown to be a valuable supplement to the treatment of several types of refractory cytopenias. In this paper, we describe a male patient suffering from Good's syndrome with immune-mediated T-cell driven pancytopenia and absence of megakaryopoiesis. He was successfully treated with eltrombopag resulting in a multilineage clinical response. PMID:25389501

Heldal, Dag



Shah-Waardenburg syndrome.  


Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah



Bilateral silent sinus syndrome.  


Silent sinus syndrome is a rare clinical entity associated with progressive enophthalmos, collapse of the maxillary sinus, and hypoglobus. We report a case of bilateral silent sinus syndrome in a 29-year-old man. Representative radiographic and intraoperative images are presented. The purpose of this article is to illustrate a new presentation of the disease and to review the current diagnostic and treatment modalities. PMID:23288826

Suh, Jeffrey D; Ramakrishnan, Vijay; Lee, Jennifer Y; Chiu, Alexander G



Down syndrome in Israel  

Microsoft Academic Search

The incidence of Down syndrome was studied in Jerusalem for the years 1964-1970 showing an overall incidence rate of 2.43 per 1,000 live births. A National Down Syndrome Register was established in 1978 and data on annual incidence and mortality rates from 1979-1997 is presented. The incidence in 1997 was 1.0 per 1,000 live births, but 2.32 per 1,000, when

Joav Merrick



Irritable Bowel Syndrome  

Microsoft Academic Search

\\u000a Irritable bowel syndrome (IBS) is a gastrointestinal syndrome characterized by chronic abdominal pain and altered bowel habits\\u000a in the absence of an organic cause. One of the four subtypes is IBS with diarrhea, defined as loose or watery stools ?25%\\u000a of bowel movements and hard or lumpy stools ?25% of bowel movements. The diagnostic approach to patients with IBS symptoms

Arnold Wald


Tropical spastic paraparesis and HTLV-1 associated myelopathy: clinical, epidemiological, virological and therapeutic aspects.  


In 1980, Human T cell leukemia/lymphoma virus type 1 (HTLV-1) was the first oncogenic human retrovirus to be discovered. HTLV-1 belongs to the Retroviridae family, the Orthoretrovirinae subfamily and to the deltaretrovirus genus. HTLV-1 preferentially infects CD4(+) lymphoid cells in vivo. Three molecules have been identified for binding and/or entry of HTLV-1: heparan sulfate proteoglycans, neuropilin-1, and glucose transporter 1. An efficient transfer of the virus from an infected cell to a target cell can occur through the formation of a viral synapse and/or by virofilm structure. As for all retroviruses, HTLV-1 genome possesses three major ORFs (gag, pol and env) encoding the structural and enzymatic proteins. HTLV-1 encodes also some regulatory and auxillary proteins including the tax protein with transforming activities and the HBZ protein which plays a role in the proliferation and maintenance of the leukemic cells. HTLV-1 is present throughout the world with clusters of high endemicity including mainly Southern Japan, the Caribbean region, areas in South America and in intertropical Africa. The worldwide HTLV-1 infected population is estimated to be around 10-20 million. HTLV-1 has three modes of transmission: (1): mother to child, mainly linked to prolonged breast-feeding; (2): sexual, mainly occurring from male to female and (3): contaminated blood products. HTLV-1 possesses a remarkable genetic stability. HTLV-1 is the etiological agent of mainly two severe diseases: a malignant T CD4(+) cell lymphoproliferation, of very poor prognosis, named Adult T cell Leukemia/Lymphoma (ATLL), and a chronic neuro-myelopathy named Tropical spastic paraparesis/HTLV-1 Associated Myelopathy (TSP/HAM). The lifetime risk among HTLV-1 carriers is estimated to be around 0.25 to 3%. TSP/HAM mainly occurs in adults, with a mean age at onset of 40-50 years and it is more common in women than in men. Blood transfusion is a major risk factor for TSP/HAM development. Clinically, TSP/HAM is mainly defined as a chronic spastic paraparesis and minor sensory signs. The onset is insidious with often gait disturbance and urinary symptoms. In more than 90% of the cases, the neurological features involve: spasticity and/or hyperreflexia of the lower extremities, urinary bladder disturbance, lower extremity muscle weakness, and in around 50% of the cases, sensory disturbances with low back pain. Central functions and cranial nerves are usually spared. The clinical course is generally progressive without remission. High levels of antibodies titers directed against HTLV-1 antigens are present in blood and cerebrospinal fluid (CSF). A high HTLV-1 proviral load is frequently observed in the blood. Mild to moderate increase of proteins may be present in the CSF. However, intrathecal production of specific HTLV-1 antibody index provides additional data to support the diagnosis. Brain white matter lesions on magnetic resonance imaging are frequent. A mild atrophy of the thoracic spinal cord can also be observed. Pathologically, it is characterized by a chronic inflammation with perivascular lymphocytic cuffing and mild parenchymal lymphocytic infiltrates. The cells are mostly CD4(+) in early disease and mostly CD8(+) in latter disease. Pyramidal tract damage with myelin and axonal loss, mainly in the lower thoracic spinal cord are observed. TSP/HAM pathogenesis is still poorly understood and viral and host factors as the proviral load and the cellular immune response play a major role in disease progression. TSP/HAM can be associated with other HTLV-1 associated symptoms (uveitis, myositis, infective dermatitis). Therapy of TSP/HAM remains disappointing and symptomatic treatment remains still the mainstay of therapy. PMID:22405461

Gessain, A; Mahieux, R



Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1 Interacting Genes  

PubMed Central

Inherited BRCA1 mutations confer elevated breast cancer risk. Recent studies have identified genes that encode proteins that interact with BRCA1 as modifiers of BRCA1-associated breast cancer. We evaluated a comprehensive set of genes that encode most known BRCA1 interactors to evaluate the role of these genes as modifiers of cancer risk. A cohort of 2,825 BRCA1 mutation carriers was used to evaluate the association of haplotypes at ATM, BRCC36, BRCC45 (BRE), BRIP1 (BACH1/FANCJ), CTIP, ABRA1 (FAM175A), MERIT40, MRE11A, NBS1, PALB2 (FANCN), RAD50, RAD51, RAP80, TOPBP1 and time to breast and ovarian cancer diagnosis. False Discovery Rate (FDR) adjusted p-value for overall association of haplotypes (pFDR) with breast cancer were identified at ATM (pFDR =0.029), BRCC45 (pFDR=0.0.19), BRIP1 (pFDR =0.008), CTIP (pFDR =0.017), MERIT40 (pFDR =0.019), NBS1 (pFDR=0.003), RAD50 (pFDR=0.014), and TOPBP1 (pFDR =0.011) and were associated with breast cancer risk. Haplotypes at ABRA1 (pFDR=0.007), BRCC45 (pFDR=0.016 and pFDR=0.005 in two haplotype blocks) and RAP80 (pFDR<0.001) were associated with ovarian cancer risk. Overall, the data suggest that genomic variation at multiple loci that encode proteins that interact biologically with BRCA1 are associated with modified breast cancer and ovarian cancer risk in women who carry BRCA1 mutations. PMID:21799032

Rebbeck, Timothy R.; Mitra, Nandita; Domchek, Susan M.; Wan, Fei; Friebel, Tara M.; Tran, Teo V.; Singer, Christian F.; Tea, Muy-Kheng Maria; Blum, Joanne L.; Tung, Nadine; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Snyder, Carrie L.; Garber, Judy E.; Antoniou, Antonis C.; Peock, Susan; Evans, D. Gareth; Paterson, Joan; Kennedy, M. John; Donaldson, Alan; Dorkins, Huw; Easton, Douglas F.; Rubinstein, Wendy S.; Daly, Mary B.; Isaacs, Claudine; Nevanlinna, Heli; Couch, Fergus J.; Andrulis, Irene L.; Freidman, Eitan; Laitman, Yael; Ganz, Patricia A.; Tomlinson, Gail E.; Neuhausen, Susan L.; Narod, Steven A.; Phelan, Catherine M.; Greenberg, Roger; Nathanson, Katherine L.



[Chronic exertional compartment syndrome].  


Chronic exertional compartment syndrome is an uncommon phenomenon first reported in the mid 50's. This condition is characterized by sharp pain during physical activity, causing reduction in activity frequency or intensity and even abstention. This syndrome is caused by elevation of the intra-compartmental pressure which leads to decreased tissue perfusion, thus ischemic damage to the tissue ensues. Chronic exertional syndrome is usually related to repetitive physical activity, usually in young people and athletes. The physical activity performed by the patient causes a rise in intra-compartmental pressure and thereby causes pain. The patient discontinues the activity and the pain subsides within minutes of rest. Chronic exertional syndrome is reported to occur in the thigh, shoulder, arm, hand, foot and gluteal region, but most commonly in the leg, especially the anterior compartment. The diagnosis of chronic exertional syndrome is primarily based on patients' medical history, supported by intramuscular pressure measurement of the specific compartment involved. Treatment of chronic exertional syndrome, especially the anterior and lateral compartment of the leg is mainly by surgery i.e. fasciotomy. If the patient is reluctant to undergo a surgical procedure, the conservative treatment is based on abstention from the offending activity, changing footwear or using arch support. However, the conservative approach is not as successful as surgical treatment. PMID:24450036

Rom, Eyal; Tenenbaum, Shay; Chechick, Ofir; Burstein, Gideon; Amit, Yehuda; Thein, Ran



Microdeletion 3q syndrome.  


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

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



Marfan's syndrome: an overview.  


Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include 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 Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

Yuan, Shi-Min; Jing, Hua



Bardet-Biedl syndrome.  


This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome. The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the obesity and polydactyly. They are now considered separate conditions. The most common feature of Bardet-Biedl syndrome is retinal dystrophy. The appearance of the retina in the condition is quite variable with typical retinitis pigmentosa being present in only a minority of cases. The associated optic atrophy can be primary in nature and might play a role in the decreased central vision. Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. This is significant in that early death often occurs in this condition because of the renal disease. PMID:10831213

Hrynchak, P K



Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome  

PubMed Central

Background Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria. Case presentation A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations. Conclusions Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes. PMID:25112827



[Guillain-Barre syndrome in children].  


Twenty two cases of Guillian-Barré syndrome were studied at the Children's Hospital of the City of Morelia (State of Michoacán, México), in a four-year period; such that number represents tow out 1 000 of the patients hospitalized in that length of time. The subject of this paper is to get acquainted with the clinical features of this syndrome in this part of the country, to establish the usefulness of the study of the spinal fluid and to know the evolution of the disease in relation to the treatment with corticoids. In all of our twenty two cases, there were coincidental features with the ones reported by others; eventhough, the statistics of this syndrome in the childhood are few. The dissociation between the amounts of albumin and the count of cells in the spinal fluid confirms the diagnosis, but its abscence is not enough to exclude it. Apparently, the clinical evolution of this disease is not modified by ths use of corticoids. Finally, the most moderns etiopathogenic concepts of this syndrome are reviewed as well as its probable etiological association with the infectious mononucleosis virus (Epstein-Barr's virus). PMID:959169

Macias Sánchez, R; Lara Toro, T



Dynamics of Periodic Monopoles  

E-print Network

BPS monopoles which are periodic in one of the spatial directions correspond, via a generalized Nahm transform, to solutions of the Hitchin equations on a cylinder. A one-parameter family of solutions of these equations, representing a geodesic in the 2-monopole moduli space, is constructed numerically. It corresponds to a slow-motion dynamical evolution, in which two parallel monopole chains collide and scatter at right angles.

Derek Harland; R. S. Ward



Periodic patterns in biology  

Microsoft Academic Search

New physical and computerized techniques for continuous read-out of intra and intercellular signals allow the study of biochemical\\u000a dynamics of both local and spreading modes. A vast amount of new information in the area of periodic, quasiperiodic, and chaotic\\u000a reactions is currently being accumulated, some of which is reviewed here to provide typical mechanisms and occurrences on\\u000a the basis of

B. Hess



Project Name: Construction Period  

E-print Network

Project Name: Construction Period Date 13-Jan 14-Jan 15-Jan 16-Jan 17-Jan 18-Jan 19-Jan 20-Jan 21 Sat Sun Balancing the systems X X X X X X X X X X Carpet 780 offices X X X X X X X X X duct insulation and pipe insulation X X X X X Demo and reinstall plumbing fixtures X X X X X Cabinet reinstall on the walls

Levinson, David M.


Hunting for Periodical Cicadas  

NSDL National Science Digital Library

This site, from Salt in the Sandbox, is a neat inquiry-based educational cicada site for children. Visitors will find a link to the project's blog, photo stories about cicadas, resources to help your children not be afraid of bugs, and cicada exhibits in the Chicago area. There are also a number of bibliographies of cicada-related resources in print and online. Be sure to check out the article about the mysterious emergence of periodical cicadas in 2004 - four years early!

Gyllenhaal, Eric Davis, 1950-



Periodic Table review  

NSDL National Science Digital Library

See the videos we watched in class (or review for your next exam) here To play the game for lab PT Game To do some practice multiple choice questions, click below. (your user name is \\"slw- WHATEVER YOU USE AT SCHOOL\\" School Island To play the review game we will do in class, click below then click on Periodic Table Review Eureeka home To watch videos Sodium Video Element song Element song Alkali metal video Brainiac metals ...

Huntress, Ms.



Chemicool Periodic Table  

NSDL National Science Digital Library

The Chemicool Periodic Table is a simple yet elegant site that allows users to click on their element of choice, or type in its name or symbol. Element names are color coded (solid, liquid, gas, as well as synthetic or naturally occurring) and information is provided in ten categories including general (atomic number and weight), states, energies, appearance, reactions, and abundance, to name a few. Also available is a unit conversion calculator.



Sodium and water disturbances in patients with Sheehan's syndrome.  


Sheehan's syndrome has been attributed to ischemic damage of the pituitary gland or hypothalamic-pituitary stalk during the peripartum period. Well-described clinical features of Sheehan's syndrome include hypothyroidism, adrenal insufficiency, hypogonadism, growth hormone deficiency, hypoprolactinemia, and different sodium and water disturbances. The occurrence of sodium and water disturbances associated with Sheehan's syndrome depends on the degree of pituitary damage, time of onset since the initial pituitary insult, and concurrent medical conditions that also may play a role in sodium and water balance. We present a patient with Sheehan's syndrome with severe chronic hyponatremia; discuss a potential problem in the patient's management; and review the literature for various sodium and water disturbances, including acute and chronic hyponatremia as well as overt and subclinical central diabetes insipidus. Although Sheehan's syndrome is more prevalent in developing countries, the increasingly large immigrant population within the United States warrants better awareness of this syndrome and its potential complicating sodium and water disturbances. Prompt diagnosis and an understanding of the pathogenic mechanisms of sodium and water disturbances associated with Sheehan's syndrome may avoid potential treatment-related complications. PMID:11532716

Pham, P C; Pham, P A; Pham, P T



Periodic minimal surfaces  

NASA Astrophysics Data System (ADS)

A minimal surface is one for which, like a soap film with the same pressure on each side, the mean curvature is zero and, thus, is one where the two principal curvatures are equal and opposite at every point. For every closed circuit in the surface, the area is a minimum. Schwarz1 and Neovius2 showed that elements of such surfaces could be put together to give surfaces periodic in three dimensions. These periodic minimal surfaces are geometrical invariants, as are the regular polyhedra, but the former are curved. Minimal surfaces are appropriate for the description of various structures where internal surfaces are prominent and seek to adopt a minimum area or a zero mean curvature subject to their topology; thus they merit more complete numerical characterization. There seem to be at least 18 such surfaces3, with various symmetries and topologies, related to the crystallographic space groups. Recently, glyceryl mono-oleate (GMO) was shown by Longley and McIntosh4 to take the shape of the F-surface. The structure postulated is shown here to be in good agreement with an analysis of the fundamental geometry of periodic minimal surfaces.

Mackay, Alan L.



Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

Introduction The apical ballooning syndrome (ABS) is a single reversible cardiomyopathy often triggered by a stressful event. We aimed to present a case report regarding this disorder. Case presentation Here we present the case of a 77-year-old female hypertensive patient, sedentary and non-smoker, diagnosed with apical ballooning syndrome. We describe the clinical signs and symptoms, changes in markers of myocardial necrosis and changes in the electrocardiogram and coronary angiography. Conclusion The course of events patient showed clinical improvement with treatment and support was not necessary to administer specific medications or interventions to reverse the situation. After hemodynamic stabilization coronary angiography showed no obstructive lesions and left ventricle with akinesia of the apex and the middle portion of the left ventricle. PMID:23597307



Focal Dermal Hypoplasia Syndrome (Goltz Syndrome)  

Microsoft Academic Search

The focal dermal hypoplasia (FDH) syndrome is a rare congenital condition (OMIM # 305600) that, as often occurs with other\\u000a neurocutaneous disorders, can affect various ectodermal and mesodermal tissues besides the skin. The skin manifestations predominate\\u000a and are essential for the diagnosis: these include atrophy and linear pigmentation of the skin, herniation of the fat through\\u000a dermal defects and multiple

Ignacio Pascual-Castroviejo; Martino Ruggieri


Do you know this syndrome?*  

PubMed Central

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

Kondo, Rogerio Nabor; Martins, Ligia Marcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araujo, Fernanda Mendes



A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.  


We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones. PMID:23575236

Lee, Min Jae; Chang, Yoon Hwan; Kang, Seung Hwa; Mun, Se Kwon; Kim, Heyjin; Han, Chul Ju; Kim, Jin; Kang, Hye Jin



The Greig cephalopolysyndactyly syndrome.  


The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G



Familial Clusters of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis  

PubMed Central

Objective HTLV-1 proviral loads (PVLs) and some genetic factors are reported to be associated with the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, there are very few reports on HAM/TSP having family history. We aimed to define the clinical features and laboratory indications associated with HAM/TSP having family history. Methods Records of 784 HAM/TSP patients who were hospitalized in Kagoshima University Hospital and related hospitals from 1987 to 2012 were reviewed. Using an unmatched case-control design, 40 patients of HAM/TSP having family history (f-HAM/TSP) were compared with 124 patients suffering from sporadic HAM/TSP, who were admitted in series over the last 10 years for associated clinical features. Results Of the 784 patients, 40 (5.1%) were f-HAM/TSP cases. Compared with sporadic cases, the age of onset was earlier (41.3 vs. 51.6 years, p<0.001), motor disability grades were lower (4.0 vs. 4.9, p?=?0.043) despite longer duration of illness (14.3 vs. 10.2 years, p?=?0.026), time elapsed between onset and wheelchair use in daily life was longer (18.3 vs. 10.0 years, p?=?0.025), cases with rapid disease progression were fewer (10.0% vs. 28.2%, p?=?0.019), and protein levels in cerebrospinal fluid (CSF) were significantly lower in f-HAM/TSP cases (29.9 vs. 42.5 mg, p<0.001). There was no difference in HTLV-1 PVLs, anti-HTLV-1 antibody titers in serum and CSF, or cell number and neopterin levels in CSF. Furthermore, HTLV-1 PVLs were lower in cases with rapid disease progression than in those with slow progression in both f-HAM/TSP and sporadic cases. Conclusions We demonstrated that HAM/TSP aggregates in the family, with a younger age of onset and a slow rate of progression in f-HAM/TSP cases compared with sporadic cases. These data also suggested that factors other than HTLV-1 PVLs contribute to the disease course of HAM/TSP. PMID:24802839

Nozuma, Satoshi; Matsuura, Eiji; Matsuzaki, Toshio; Watanabe, Osamu; Kubota, Ryuji; Izumo, Shuji; Takashima, Hiroshi



Fragile X Syndrome What is fragile X syndrome?  

E-print Network

be present. Can fragile X syndrome be treated? There is no cure for fragile X syndrome. However, early. These therapies may also be useful in addressing issues of shyness, depression, and worry in individuals

Bordenstein, Seth


Nijmegen breakage syndrome (NBS).  


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

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



Juvenile polyposis syndrome.  


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

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



Juvenile polyposis syndrome  

PubMed Central

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

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



Erythrocyte disorders in the perinatal period.  


Anemia is a commonly encountered problem in the fetal and neonatal period, and can lead to significant morbidity and mortality. Intrinsic disorders of the erythrocyte, such as the hemoglobinopathies, enzyme deficiencies, and membrane defects are common causes of neonatal anemia. Genetic diseases that lead to decreased erythrocyte production, such as Diamond-Blackfan anemia, Schwachman-Diamond syndrome, and Congential Dyserythropoietic Anemia, are rare causes of perinatal anemia, but are important to recognize as they are often associated with other congenital abnormalities and require specialized treatment. This review focuses on the perinatal presentation and management of intrinsic erythrocyte disorders, as well as on the diagnosis and management of genetic conditions leading to erythrocyte underproduction. PMID:17825683

Steiner, Laurie A; Gallagher, Patrick G



Nevoid basal cell carcinoma syndrome (Gorlin syndrome)  

PubMed Central

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 soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure. PMID:19032739

Lo Muzio, Lorenzo



Gastrointestinal manifestations of Sipple syndrome in children.  


The diagnosis and management of patients with multiple endocrine neoplasia (MEN) type IIA and type IIB are of special challenge to pediatric surgeons. Patients characteristically present early in life with significant intestinal symptoms at a time when the characteristic phenotypic features of MEN IIB are frequently absent. We are reporting 12 patients with MEN type II (9 with type IIA and 3 type IIB or Sipple's syndrome), all of whom presented with gastrointestinal manifestations. All 12 patients had signs and symptoms of bowel obstruction during the neonatal period. An unusual association of Hirschsprung's disease and MEN IIA was noted in our nine patients found among a kindred of 92 individuals. All three patients with Sipple's syndrome (MEN IIB) had severe gastrointestinal symptoms since birth, including recurrent pseudoobstruction. The possibility of MEN type II should be considered in all cases of bowel obstruction in the newborn period. Screening for medullary carcinoma of the thyroid must be carried out from infancy. A detailed family history is very important to avoid unnecessary surgery for bowel obstruction in Sipple's syndrome. PMID:2888844

Khan, A H; Desjardins, J G; Youssef, S; Grégoire, H; Seidman, E



Histocompatibility class I and II antigens in extensive kindred with Sneddon's syndrome and related hypercoagulation disorders.  


We have studied the relationship between the histocompatibility class I and II antigens and Sneddon's syndrome (SS) in a Spanish patient with SS and her relatives (13 available members of an extensive 3-generation pedigree with diverse autoimmune hypercoagulation abnormalities). The patient and her father were diagnosed with a primary antiphospholipid antibody syndrome and were HLA-A30-B13-Bw6. In addition, a HLA-Bw6-DQ1 association was present in all the members of this kindred. These data suggest that the combination of the histocompatibility class I and II antigens in this family may be a marker for predisposition to SS. PMID:17207709

Lousa, Manuel; Pardo, Ana; Arnaiz-Villena, Antonio; Jimenez-Escrig, Adriano; Gobernado, Jose



Acquired Brown's syndrome associated with Hurler-Scheie's syndrome.  

PubMed Central

A 5-year-old Caucasian girl with known Hurler-Scheie's syndrome (mucopolysaccharidosis) developed a right Brown's syndrome while under orthoptic review. There was no evidence of trauma or inflammation of the superior oblique tendon, trochlea, or surrounding tissues. The Brown's syndrome in this case may be due to shortening of the superior oblique tendon, associated with the shortening of long tendons of the arms and feet, which is common in Hurler-Scheie's syndrome. Images PMID:2496743

Bradbury, J A; Martin, L; Strachan, I M



Syndromic diarrhea/Tricho-hepato-enteric syndrome  

PubMed Central

Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévčre dont l’incidence est estimée ŕ 1 cas pour 1 million de naissances et la transmission autosomique récessive. La forme typique associe 5 signes cliniques: une diarrhée grave rebelle nécessitant dans la majorité des cas une nutrition parentérale du fait de la malnutrition, une dysmorphie avec un front large et bombé, une racine du nez large et un hypertélorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifiés de « laineux », un retard de croissance intra utérine et des anomalies de l’immunité ŕ type de déficit en immunoglobuline ou d’absence de réponse aux antigčnes vaccinaux. Des anomalies de deux protéines peuvent ętre ŕ l’origine du syndrome SD/THE: TTC37, une protéine ŕ motif TPR et SKIV2L, une hélicase ŕ ARN, toutes 2 étant des constituants du complexe SKI humain. Le complexe SKI est un co-facteur de l’exosome cytoplasmique qui assure la dégradation des ARN aberrants ou exogčnes. Le diagnostic est d’abord clinique puis confirmé par le séquençage des gčnes TTC37 et SKIV2L. Le diagnostic différentiel avec les autres formes de diarrhées intraitables est fait grâce aux analyses anatomopathologiques qui montrent dans les autres formes, des lésions spécifiques. La prise en charge clinique repose sur la nutrition parentérale et la supplémentation en immunoglobuline si nécessaire. Un certain nombre d’enfants peuvent ętre sevrés de la nutrition parentérale et des supplémentations en immunoglobulines. En cas d’atteinte hépatique, celle-ci peut ętre sévčre et conduire au décčs. Męme avec une prise en charge optimale, les enfants présentent une petite taille et, dans la moitié des cas, un retard mental modéré. Disease name/synonyms – Syndromic diarrhea – Phenotypic diarrhea – Tricho-hepato-enteric syndrome – Intractable diarrhea of infancy with facial dysmorphism &#x



Missionary Periodicals Database  

NSDL National Science Digital Library

Hosted by the Yale Divinity School and created by the Currents in World Christianity Center at the University of Cambridge, this site is an amazing resource for anyone studying British missionary movements, religion, or the British empire. Visitors can browse the database by region or periodical title, or conduct a keyword search. Initial returns include title, issuing body, denomination, place, and dates of publication. Full entries include publisher, volume numbers, frequency, circulation, price, region of work, features, and some comments. Scholars who study these materials will undoubtedly make great use of this site.


[Kabuki syndrome, a congenital syndrome with multiple anomalies  

Microsoft Academic Search

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to

A. M. den Biggelaar; A. M. Kuijpers-Jagtman; S. J. Berge; C. Katsaros



Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

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…

Mason, Linda; Cunningham, Cliff



Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.  


CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due to dual sensory impairment affecting hearing and vision, rather than to primary autistic spectrum disorder, but successful remediation requires similar educational interventions, which are discussed herein. PMID:15637708

Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie



Dietary patterns and metabolic syndrome in a Japanese working population  

PubMed Central

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



The syndrome of deafness-dystonia: clinical and genetic heterogeneity.  


The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions. PMID:23418071

Kojovic, Maja; Pareés, Isabel; Lampreia, Tania; Pienczk-Reclawowicz, Karolina; Xiromerisiou, Georgia; Rubio-Agusti, Ignacio; Kramberger, Milica; Carecchio, Miryam; Alazami, Anas M; Brancati, Francesco; Slawek, Jaroslaw; Pirtosek, Zvezdan; Valente, Enza Maria; Alkuraya, Fowzan S; Edwards, Mark J; Bhatia, Kailash P



Multifunctional periodic cellular metals.  


Periodic cellular metals with honeycomb and corrugated topologies are widely used for the cores of light weight sandwich panel structures. Honeycombs have closed cell pores and are well suited for thermal protection while also providing efficient load support. Corrugated core structures provide less efficient and highly anisotropic load support, but enable cross flow heat exchange opportunities because their pores are continuous in one direction. Recent advances in topology design and fabrication have led to the emergence of lattice truss structures with open cell structures. These three classes of periodic cellular metals can now be fabricated from a wide variety of structural alloys. Many topologies are found to provide adequate stiffness and strength for structural load support when configured as the cores of sandwich panels. Sandwich panels with core relative densities of 2-10% and cell sizes in the millimetre range are being assessed for use as multifunctional structures. The open, three-dimensional interconnected pore networks of lattice truss topologies provide opportunities for simultaneously supporting high stresses while also enabling cross flow heat exchange. These highly compressible structures also provide opportunities for the mitigation of high intensity dynamic loads created by impacts and shock waves in air or water. By filling the voids with polymers and hard ceramics, these structures have also been found to offer significant resistance to penetration by projectiles. PMID:18272452

Wadley, Haydn N G



Kabuki syndrome revisited.  


Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32?000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed. PMID:22437206

Bokinni, Yemisi



[Paraneoplastic rheumatic syndromes].  


Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, RaynaudĄs phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis. PMID:24007962

Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia



[Münchausen syndrome by proxy].  


Münchausen syndrome by proxy (also known as factitious disorder by proxy) is a psychiatric disorder which consists of fabricating or inducing illness in a child, usually by his mother. The motivation for the perpetrator's behavior is receivng satisfaction from the investigations and treatments that the child receives and from the medical environment, as part of a unique mental disturbance. External incentives for the behavior (such as economic gain) are absent. During the last few years about 20 cases of Münchausen syndrome by proxy were diagnosed in our ward. We describe a few less typical cases of patients with Münchausen syndrome by proxy. In all cases the offender, the mother, had only secondary education and no medical background. The socioeconomic background was variable. Recognition of the syndrome and a high index of clinical suspicion are needed in order to diagnose the disorder. Suspicious signs and symptoms include prolonged and illogical course of disease, odd complications, exacerbation that appear just before discharge from the hospital and symptoms that occur only in the presence of a specific care giver. Münchausen syndrome by proxy is not very rare. It appears in all ethnic groups, socioeconomic status and educational backgrounds. PMID:24416819

Scheuerman, Oded; Grinbaum, Iris; Garty, Ben Zion



Genetics Home Reference: Crouzonodermoskeletal syndrome  


... premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis ... may include treatment providers. Gene Review: FGFR-Related Craniosynostosis Syndromes Genetic Testing Registry: Crouzon syndrome with acanthosis ...


Genetics Home Reference: GRACILE syndrome  


... and Families Resources for Health Professionals What glossary definitions help with understanding GRACILE syndrome? acidosis ; acids ; aciduria ; ... phosphorylation ; phosphorylation ; protein ; recessive ; syndrome You may find definitions for these and many other terms in the ...


Genetics Home Reference: Stormorken syndrome  


... Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading ... for Stormorken syndrome? Stormorken-Sjaastad-Langslet syndrome thrombocytopathy, asplenia, and miosis For more information about naming genetic ...


Genetics Home Reference: Kabuki syndrome  


... inheritance is that fathers cannot pass X-linked traits to their sons. Most cases of Kabuki syndrome ... definitions help with understanding Kabuki syndrome? autosomal ; autosomal dominant ; cell ; chromosome ; cleft palate ; developmental delay ; disability ; DNA ; ...


Fragile X Syndrome: Other FAQs  


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


Genetics Home Reference: Bloom syndrome  


... Bloom's syndrome Bloom-Torre-Machacek syndrome congenital telangiectatic erythema For more information about naming genetic conditions, see ... congenital ; COPD ; diabetes ; dilated ; disabilities ; DNA ; double helix ; erythema ; fertility ; gene ; genome ; infertile ; inherited ; lower jaw ; menopause ; ...


Wolff-Parkinson-White syndrome  


Wolff-Parkinson-White syndrome is a heart condition in which there is an abnormal extra electrical pathway of the ... to episodes of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common ...


Genetics Home Reference: Antiphospholipid syndrome  


... can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's ... Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with ...


Genetics Home Reference: Sjögren syndrome  


... any age. Sjögren syndrome is classified as an autoimmune disorder, one of a large group of conditions that ... is said to have secondary Sjögren syndrome. Other autoimmune disorders can also develop after the onset of primary ...


Genetics Home Reference: Troyer syndrome  


... Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Troyer syndrome On this page: Description ... Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...


Prader-Willi Syndrome (PWS)  


... NICHD Research Information Clinical Trials Resources and Publications Prader-Willi Syndrome (PWS): Condition Information Skip sharing on social ... Schwartz, S., Miller, J. L., & Driscoll, D. J. (2011). Prader-Willi syndrome. Genetics in Medicine, 14, 10-26. [top] ...


Robinow syndrome with parental consanguinity  

Microsoft Academic Search

We describe the clinical features of Robinow syndrome in the first child of a consanguineous Turkish couple. This observation supports the view that severe vertebral anomalies are a feature of the autosomal-recessive form of Robinow syndrome.

D. Glaser; J. Herbst; K. Roggenkamp; W. Tünte; W. Lenz



Genetics Home Reference: Asperger syndrome  


... syndrome? Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized ... the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for ...


[Anesthesia for ten patients with Prader-Willi syndrome].  


Previous reports indicate that Prader-Willi syndrome may present various problems during anesthesia and the perioperative period. We retrospectively investigated anesthesia records of 10 patients (2 adults and 8 children) who were diagnosed to have Prader-Willi syndrome, and who had an operation under anesthesia. Three patients had small mouths, small jaws or both. Decreased musle mass was observed in 2 patients. Two patients were morbidly obese (BMI 33, and 51). General anesthesia was used in 9 patients. Spinal anesthesia under fluoroscopy was performed in the remaining one patient who was morbidly obese (BMI 51). Among 9 patients who received general anesthesia, mask ventilation was difficult in one patient, but insertion of an oral airway relieved the problem. Difficult tracheal intubation occurred in one patient. No other major problems occurred. We conclude that the incidence of problems during anesthesia and postoperative period in patients with Prader-Willi syndrome would be less than previously considered. PMID:25199316

Terada, Satoshi; Kuno, Yuichirou; Simazaki, Mutsuhisa; Arai, Takerou; Okuda, Yasuhisa



Electrocochleographic study of a case of lermoyez's syndrome.  


A case of Lermoyez's syndrome was investigated by tone-burst electrocochleography in both a period of impaired hearing and in a period of almost normal hearing. The changes in threshold values, compound action potential waveforms, input-output curves, and amplitude-latency curves for the compound AP, are described. The electrocochleographic data are compared with the psycho-acoustic data for this case and with electrocochleographic results in a group of 22 Meniere cases. Although the symptoms of vertogo and hearing impairment in Lermoyez's syndrome occur in the reverse sequence, as compared with the classical Meničre attack, the data obtained in this case of Lermoyez's syndrome do not differ substantially from those obtained in a group of Meničre cases. PMID:1136768

Schmidt, P H; Odenthal, D W; Eggermont, J J; Spoor, A



Radiobiology of the acute radiation syndrome  

PubMed Central

Acute radiation syndrome or acute radiation sickness is classically subdivided into three subsyndromes: the hematopoietic, gastrointestinal and neurovascular syndrome but many other tissues can be damaged. The time course and severity of clinical signs and symptoms are a function of the overall body volume irradiated, the inhomogeneity of dose exposure, the particle type, the absorbed dose and the dose rate. Classical pathophysiology explain the failure of each of these organs and the timing of appearance of their signs and symptoms due to radiation-induced cytocidal effects of a great number of parenchymal cells of hierarchically organized tissues. Contemporaneously, many other radiation-induced effects has been described and all of them may lead to tissue injury with their corresponding signs and symptoms that can be expressed after short or long period of time. Radiation-induced multi-organ involvement is thought to be due to radiation-induced systemic inflammatory response mediated by released pro-inflammatory cytokines. PMID:24376969

Macia i Garau, Miquel; Lucas Calduch, Anna; Lopez, Enric Casanovas



Metabolic Syndrome, Androgens, and Hypertension  

Microsoft Academic Search

Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is\\u000a also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of\\u000a obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension.\\u000a In men, obesity and metabolic syndrome

Mohadetheh Moulana; Roberta Lima; Jane F. Reckelhoff