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1

Falling into TRAPS - receptor misfolding in the TNF receptor 1-associated periodic fever syndrome  

PubMed Central

TNF receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disease caused by missense mutations in the TNF receptor 1 (TNFR1) gene. Patients suffer from periodic bouts of severe abdominal pain, localised inflammation, migratory rashes, and fever. More than 40 individual mutations have been identified, all of which occur in the extracellular domain of TNFR1. In the present review we discuss new findings describing aberrant trafficking and function of TNFR1 harbouring TRAPS mutations, challenging the hypothesis that TRAPS pathology is driven by defective receptor shedding, and we suggest that TNFR1 might acquire novel functions in the endoplasmic reticulum, distinct from its role as a cell surface receptor. We also describe the clinical manifestations of TRAPS, current treatment regimens, and the widening array of patient mutations.

Kimberley, Fiona C; Lobito, Adrian A; Siegel, Richard M; Screaton, Gavin R

2007-01-01

2

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)  

PubMed Central

Reactive oxygen species (ROS) have an established role in inflammation and host defense, as they kill intracellular bacteria and have been shown to activate the NLRP3 inflammasome. Here, we find that ROS generated by mitochondrial respiration are important for normal lipopolysaccharide (LPS)-driven production of several proinflammatory cytokines and for the enhanced responsiveness to LPS seen in cells from patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS), an autoinflammatory disorder caused by missense mutations in the type 1 TNF receptor (TNFR1). We find elevated baseline ROS in both mouse embryonic fibroblasts and human immune cells harboring TRAPS-associated TNFR1 mutations. A variety of antioxidants dampen LPS-induced MAPK phosphorylation and inflammatory cytokine production. However, gp91phox and p22phox reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits are dispensable for inflammatory cytokine production, indicating that NADPH oxidases are not the source of proinflammatory ROS. TNFR1 mutant cells exhibit altered mitochondrial function with enhanced oxidative capacity and mitochondrial ROS generation, and pharmacological blockade of mitochondrial ROS efficiently reduces inflammatory cytokine production after LPS stimulation in cells from TRAPS patients and healthy controls. These findings suggest that mitochondrial ROS may be a novel therapeutic target for TRAPS and other inflammatory diseases.

Bulua, Ariel C.; Simon, Anna; Maddipati, Ravikanth; Pelletier, Martin; Park, Heiyoung; Kim, Kye-Young; Sack, Michael N.; Kastner, Daniel L.

2011-01-01

3

[Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes].  

PubMed

Genetic fever syndromes or hereditary recurrent fever syndromes (HRF) are considered to be part of the autoinflammatory diseases (AID) which result from errors in the innate immune system. Patients typically have self-limiting episodes of fever and high levels of inflammation markers. The mode of inheritance is autosomal recessive or autosomal dominant. The diseases of the HRF include familial Mediterranean fever, tumor necrosis factor receptor 1-associated periodic syndrome, hyper-IgD syndrome and cryopyrin-associated periodic fever syndromes. The disease known as deficiency of interleukin 1 (IL1) receptor antagonist does not fully belong to this group because fever is not a typical symptom. The therapy depends on the type and severity of the disease. Effective prophylaxis is possible for FMF. Biologicals, especially IL1 blocking agents are highly effective in very severe fever syndromes. In order to collect more information on AID, to establish a biobank and coordinate research in this field the AID-Net project was founded. Currently 606 patients with AID are registered of whom 381 have HRF. PMID:23552978

Neudorf, U; Lainka, E; Kallinich, T; Holzinger, D; Roth, J; Föll, D; Niehues, T

2013-05-01

4

[Cryopyrin-associated periodic syndrome].  

PubMed

The cryopyrin-associated periodic syndrome is a very rare disease. It is estimated that there are 1-2 cases out of 1 million inhabitants in the USA and 1/360,000 in France. However, many patients are diagnosed very late or not at all. Therefore the real prevalence is likely to be higher. CAPS encompasses the three entities familial cold autoinflammatory syndrome (FCAS), the Muckle-Wells syndrome and the 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 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 CNS symptoms (NOMID/CINCA only). With the advent of the IL-1 inhibitors anakinra, rilonacept and canakinumab for the first time safe and effective therapeutic options are 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. PMID:22527214

Kümmerle-Deschner, J B

2012-04-01

5

Case of Bartter Syndrome Presenting With Hypokalemic Periodic Paralysis  

Microsoft Academic Search

Hypokalemic periodic paralysis can occur secondarily to excessive potassium loss. Thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, Gitelman syndrome, and Bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis. Clinical presentation of Bartter syndrome with hypokalemic periodic paralysis is rare. A 12-year-old boy was admitted to our hospital because of transient paralysis. He had been suffering from transient weakness

Özgür Duman; Mustafa Koyun; Sema Akman; Ayfer Gür Güven; ?enay Haspolat

2006-01-01

6

Clinical Genetic Testing of Periodic Fever Syndromes  

PubMed Central

Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

Marcuzzi, Annalisa; Piscianz, Elisa; Kleiner, Giulio; Tommasini, Alberto; Severini, Giovanni Maria; Monasta, Lorenzo; Crovella, Sergio

2013-01-01

7

Periodic Limb Movement Disorder and Restless Legs Syndrome  

MedlinePLUS

Sections Brain, Spinal Cord, and Nerve Disorders Chapters Sleep Disorders Periodic Limb Movement Disorder and Restless Legs Syndrome ... leg movement disorder is common among people with narcolepsy and rapid eye movement (REM) behavior disorder. Both ...

8

Extracorporeal membrane oxygenation for 2009 influenza A (H1N1)-associated acute respiratory distress syndrome.  

PubMed

The 2009 novel swine-origin influenza A (H1N1) virus was identified in April 2009 in Mexico, and the World Health Organization declared the first phase 6 global influenza pandemic of the century on June 11, 2009. The pandemic spread worldwide in just a few weeks. Most patients diagnosed with H1N1-2009 virus had a self-limited respiratory illness. However, among patients admitted to hospitals, 20 to 33% were hospitalized in intensive care units (ICUs) because of influenza-associated pneumonia and acute respiratory distress syndrome (ARDS). Mortality in patients admitted to the ICU with respiratory failure varied between 17 and 28% and was associated with greater illness severity scores and the need for mechanical ventilation on admission as well as the presence of comorbid conditions and older age. Despite attempts to optimize ventilator settings, some patients developed refractory hypoxemia or hypercapnia and received extracorporeal membrane oxygenation (ECMO) as a rescue therapy. In most of these cases, patients were retrieved from outside major cities and safely transported under ECMO to experienced tertiary centers through semiformal referral networks. However, whether the 25 to 50% mortality observed in the reported ECMO series was affected by the recourse to this technique could not be established. PMID:21506055

Combes, Alain; Pellegrino, Vince

2011-04-19

9

Oral Manifestations of a Possible New Periodic Fever Syndrome  

Microsoft Academic Search

Periodic fever syndrome is composed of a group of disorders that present with recurrent predictable episodes of fever, which may be accompanied by: (1) lymphadenopathy; (2) malaise; (3) gastrointestinal disturbances; (4) arthralgia; (5) stomatitis; and (6) skin lesions. These signs and symptoms occur in distinct intervals every 4 to 6 weeks and resolve without any residual effect, and the patient

Soraya Beiraghi; Sandra L. Myers; Warren E. Regelmann; Scott Baker

10

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis  

Microsoft Academic Search

We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3\\/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with chronic inflammatory disorders, including rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), Crohn's disease, undiagnosed recurrent fevers and HPFs themselves. Four of 67 patients with RA plus amyloidosis had MEFV variants

E Aganna; P N Hawkins; S Ozen; T Pettersson; A Bybee; S A McKee; H J Lachmann; L Karenko; A Ranki; A Bakkaloglu; N Besbas; R Topaloglu; H M Hoffman; G A Hitman; P Woo; M F McDermott

2004-01-01

11

Genetics Home Reference: Tumor necrosis factor receptor-associated periodic syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Tumor necrosis factor receptor-associated periodic syndrome (often shortened to TRAPS ) ... definitions Reviewed August 2011 What is TRAPS? Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) ...

12

Oral manifestations of a possible new periodic fever syndrome.  

PubMed

Periodic fever syndrome is composed of a group of disorders that present with recurrent predictable episodes of fever, which may be accompanied by: (1) lymphadenopathy; (2) malaise; (3) gastrointestinal disturbances; (4) arthrolgia; (5) stomatitis; and (6) skin lesions. These signs and symptoms occur in distinct intervals every 4 to 6 weeks and resolve without any residual effect, and the patient remains healthy between attacks. The evaluation must exclude: (1) infections; (2) neoplasms; and (3) autoimmune conditions. The purpose of this paper is to report the case of a 41/2- year-old white female who presented with a history of periodic fevers accompanied by: (1) joint pain; (2) skin lesions; (3) rhinitis; (4) vomiting; (5) diarrhea; and (6) an unusual asymptomatic, marked, fiery red glossitis with features evolving to resemble geographic tongue and then resolving completely between episodes. This may represent the first known reported case in the literature of a periodic fever syndrome presenting with such unusual recurring oral findings. PMID:17867399

Beiraghi, Soraya; Myers, Sandra L; Regelmann, Warren E; Baker, Scott

13

Restless legs syndrome and periodic leg movements of sleep.  

PubMed

Women are more commonly affected than men by restless legs syndrome, and prevalence is highest amongst those of northern European heritage. The motor manifestations include nonvolitional myoclonus (periodic leg movements). Disinhibition of spinal sensorimotor circuits may underlie these primary features and can be affected by peripheral as well as supraspinal networks. Insufficient mobilizable iron stores increase expressivity in some individuals. The sensorimotor features are relieved by dopamine, especially dopamine agonists, gabapentin and its derivatives, and opioids. A diagnosis relies on recognition of key primary and supportive features, and treatments are generally well tolerated, efficacious, and life-changing. PMID:23099132

Rye, David B; Trotti, Lynn Marie

2012-11-01

14

Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome.  

PubMed

Cryopyrin-associated periodic syndrome (CAPS) is due to gain-of-function mutations in the cryopyrin gene, which determines an overactive inflammatory response. AA amyloidosis is a complication of this syndrome. A 53-year-old man was referred to us because of lower limb edema. Past history: at the age of 20, he complained of arthralgia/arthritis and bilateral hypoacusis. At the age of 35, he presented posterior uveitis, several episodes of conjunctivitis, and progressive loss of visual acuity. Laboratory tests disclosed nephrotic syndrome, and renal biopsy showed AA amyloidosis. He was given anakinra with improvement of arthritis. A genetic study revealed the p.D303N mutation in the cryopyrin gene, and he was diagnosed as having AA amyloidosis due to CAPS. Twenty-one months after starting anakinra, the arthritis has disappeared, although nephrotic-range proteinuria persisted. It is important to be aware of cryopyrin-associated periodic syndrome because it can cause irreversible complications, and there is effective therapy. PMID:23650909

Enríquez, R; Sirvent, A E; Padilla, S; Noguera-Pons, R; Andrada, E; Ardoy, F; Millán, I; Amorós, F

2013-05-07

15

[A woman with Sezary syndrome developed HTLV-1-associated myeloneuropathy. The reported case supports the theory of etiological connection].  

PubMed

The patient was a 58-year-old woman with a 10-year history of severely itching erythroderma, as well as enlarged lymph glands and circulating Sézary cells (i.e. Sézary's syndrome). Histological analysis of a skin biopsy revealed Pautrier's microabcesses with atypical lymphocytes characteristic of T-cell lymphoma. Her lymph glands were also found to contain atypical lymphocytes. Parallel to the skin disorder, the patient developed paraparesis with fainting strength of the musculature of the extremities. Ultimately, she was unable to walk. She had no feeling of vibration and had difficulties emptying her bladder. Babinski's sign was positive, bilaterally. Ten years before the present admission the patient's skin and blood lymphocytes were positive for sequences of human T-cell lymphoma virus-1 (HTLV-1) in a polymerase chain reaction (PCR). At the present admission, the patient presented a high titre of HTLV-1 antibodies both in the blood and cerebrospinal fluid on ELISA and Wesern blot analysis. The patient had been married to a man from Bolivia for 30 years. He was also strongly positive for HTLV-1 antibodies in blood. Adult T-leukemia (ATL) is common in areas where HTLV-1 is found endemically. ATL has skin symptoms similar to mycosis fungoides. The clinical findings in this patient indicate an etiological connection between some cases of T-cell lymphoma in the skin (Sézary's syndrome) and HTLV-1. PMID:12914139

Roupe, Gösta

2003-07-24

16

Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period  

PubMed Central

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.

Yetman, Anji T.; Beroukhim, Rebecca S.; Ivy, Dunbar D.; Manchester, David

2011-01-01

17

Time course of arousal response during periodic leg movements in patients with periodic leg movements and restless legs syndrome  

Microsoft Academic Search

Objective: The temporal evolution of periodic leg movements (PLM) and the relationship of their arousing effect on sleep episode has not been extensively investigated. We studied the nocturnal evolution of PLM associated or not with microarousal (MA) and associated with slow wave activity (PLM with slow wave activity) in 23 patients with PLM and\\/or restless legs syndrome (RLS).Methods: All subjects

Emilia Sforza; Christophe Jouny; Vincent Ibanez

2003-01-01

18

Periods of recovery in deficit syndrome schizophrenia: a 20-year multi-follow-up longitudinal study.  

PubMed

Periods of recovery were examined in patients with and without deficit syndrome schizophrenia. Fifty-six patients with schizophrenia were studied, 39 of whom were divided into deficit and nondeficit syndrome schizophrenia subtypes using a proxy method. We also studied 39 nonpsychotic depressive comparison patients. Patients were evaluated as part of the Chicago Follow-up Study, which prospectively examined patients at regular intervals over a 20-year period. Using standardized instruments, patients were evaluated for the deficit syndrome, global recovery, rehospitalization, social dysfunction, occupational disability, and symptom presentation. Recovery was examined at 6 time points measured at 2-, 4.5-, 7.5-, 10-, 15-, and 20-year postindex hospitalization. Cumulatively, over the 20-year period, 13% of patients classified as meeting criteria for the deficit syndrome showed 1 or more 1-year periods of global recovery, in comparison to 63% of nondeficit schizophrenia patients and 77% of depressed patient controls. Results indicate that the deficit syndrome represents a persistently impaired subsample of schizophrenia patients, with continuous social, occupational, and symptom impairment. In contrast, nondeficit syndrome schizophrenia patients showed at least some periods of remission or recovery, with the likelihood of these periods increasing as they became older. Findings provide further support for the validity of the deficit syndrome concept and suggest that deficit status is characterized by a more persistently impaired course of illness and particularly poor long-term prognosis. PMID:19095758

Strauss, Gregory P; Harrow, Martin; Grossman, Linda S; Rosen, Cherise

2008-12-18

19

The Treatment of Restless Legs Syndrome and Periodic Limb Movement Disorder  

Microsoft Academic Search

A task force consisting of six authors reviewed the published literature on the therapy of the restless legs syndrome or peri- odic limb movements in sleep available in indices through April, 1998. They selected the 45 articles for detailed review which pre- sented original investigations of therapeutic impact on the restless legs syndrome (RLS) or periodic limb movements (PLM) and

Wayne Hening; Richard Allen; Christopher Earley; Clete Kushida; Daniel Picchietti; Michael Silber; Stanford Sleep

20

Periodic Limb Movement Disorder and Restless Legs Syndrome in Children With Attention-deficit Hyperactivity Disorder  

Microsoft Academic Search

Sleep disruption can lead to symptoms of attention-deficit hyperactivity disorder (ADHD) in children. Since periodic limb movement disorder and\\/or restless legs syndrome can cause sleep disruption, we assessed whether these two specific sleep disorders are likely to occur in children with ADHD. We asked a series of 69 consecutive parents of children with ADHD questions about the symptoms of periodic

Daniel L. Picchietti; Sandra J. England; Arthur S. Walters; Kevin Willis; Tracy Verrico

1998-01-01

21

Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome  

Microsoft Academic Search

Hyperimmunoglobulinemia D (hyper-IgD) and periodic fever syndrome, a hereditary autoinflammatory syndrome, is characterized by lifelong recurrent episodes of fever and inflammation. No effective treatment is known. It is caused by a defect of mevalonate kinase, an enzyme that follows 3?-hydroxy-3?-methylglutaryl–coenzyme A (HMG-CoA) reductase in the isoprenoid pathway. We wanted to test the hypothesis that inhibition of HMG-CoA reductase would ameliorate

Anna Simon; Elizabeth Drewe; Richard J. Powell; Richard I. Kelley; Anton F. H. Stalenhoef; Joost P. H. Drenth

2004-01-01

22

Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18 month period.  

PubMed

Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies. PMID:2531468

Hoe, T S; Boo, N Y; Clyde, M M

1989-06-01

23

Interleukin-1? inhibitors for the treatment of cryopyrin-associated periodic syndrome  

PubMed Central

Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, inherited autoinflammatory disorders associated with aberrant secretion of interleukin (IL)-1. These distinct conditions of autoinflammatory origin include Muckle–Wells syndrome, familial cold autoinflammatory syndrome, and neonatal-onset multisystem inflammatory disease (NOMID), which is also referred to as chronic infantile neurologic cutaneous and articular syndrome. Recently, this group of diseases has been associated with mutations in the NLRP3 gene that encodes for the protein cryopyrin, a component of the inflammasome complex that regulates the maturation and secretion of inflammatory cytokine IL-1?. Immune cells from patients with NOMID secrete higher levels of active IL-1? compared with monocytes from healthy subjects. Overproduction of IL-1 is believed to promote aberrant inflammatory response in CAPS patients. Evidence supporting the clinical value of IL-1? in CAPS has been provided from the complete response of patients after treatment with IL-1 blocking agents.

Dhimolea, Eugen

2011-01-01

24

Clinical symptomatology and treatment of restless legs syndrome and periodic limb movement disorder  

Microsoft Academic Search

Patients with restless legs syndrome (RLS) suffer from sensory and motor symptoms evoked in the limbs at rest. Symptoms increase in the evening and during the night. The circadian rhythm and the presence of involuntary periodic limb movement in sleep (PLMS) which are frequently associated with arousals probably cause the leading symptom of sleep disturbances in RLS. Patients who do

Karin Stiasny; Wolfgang Hermann Oertel; Claudia Trenkwalder

2002-01-01

25

Restless Legs Syndrome and Periodic Leg Movements in Sleep: The Primary Role of Dopaminergic Mechanism  

Microsoft Academic Search

We report here the possible effect of opiates on a patient exhibiting particularly severe restless legs syndrome (RLS) and periodic leg movemets in sleep (PLMS). This patient was investigated in the sleep laboratory under three conditions, namely, unmedicated (baseline), medicated with codeine sulfate, and medicated with both codeine sulfate and pimozide. Codeine sulfate dramatically improved abnormal motor behavior in this

Jacques Montplaisir; Dominique Lorrain; Roger Godbout

1991-01-01

26

Restless legs syndrome and periodic limb movement disorder in the elderly  

Microsoft Academic Search

Restless legs syndrome (RLS) is a sensorimotor neurological disorder characterized by an urge to move the extremities, mostly the legs, caused or accompanied by unpleasant sensations in the affected limbs. Symptoms appear or increase in the evening or during the night and at rest. Sleep disturbances are the most frequent reason why patients seek medical aid. The diagnosis of periodic

Magdolna Hornyak; Claudia Trenkwalder

2004-01-01

27

Prevalence of restless legs syndrome and periodic limb movement disorder in the general population  

Microsoft Academic Search

Background: Periodic limb movement disorder (PLMD) and restless legs syndrome (RLS) are two sleep disorders characterized by abnormal leg movements and are responsible for deterioration in sleep quality. However, the prevalence of these disorders is not well known in the general population. This study aims to document the prevalence of RLS and PLMD in the general population and to identify

Maurice M. Ohayon; Thomas Roth

2002-01-01

28

Effects of monosodium glutamate administration in the neonatal period on the diabetic syndrome in KK mice  

Microsoft Academic Search

Summary  Administration of monosodium glutamate (MSG) to KK mice during the neonatal period resulted in a syndrome of obesity, stunting and hypogonadism. In some animals the genetic predisposition to diabetes was unmasked with the development of marked hyperglycaemia and or hyperinsulinaemia. Food intake was not increased compared to controls. The elevated plasma glucose and insulin in fed MSG treated mice fell

D. P. Cameron; T. K.-Y. Poon; G. C. Smith

1976-01-01

29

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: A polysomnographic study  

Microsoft Academic Search

Objective: The aim of this study was to evaluate the sleep breathing patterns and to detect the eventual presence of periodic leg movements (PLMs) in patients affected by Angelman syndrome (AS). Methods: Ten children with AS were recruited to participate in the study; the clinical diagnosis was confirmed by the genetic analysis (maternal 15q deletion, uniparental paternal disomy, or mutation

Silvia Miano; Oliviero Bruni; Maurizio Elia; Sebastiano A. Musumeci; Elisabetta Verrillo; Raffaele Ferri

30

A Model-Based Approach for Estimating the Mean Incubation Period of Transfusion-Associated Acquired Immunodeficiency Syndrome  

Microsoft Academic Search

The incubation period, representing the interval between the date of exposure and the date of diagnosis, can be firmly ascertained in transfusion-associated cases of acquired immunodeficiency syndrome (AIDS). However, because the observation period of all transfusion-infected persons may be short compared with the average incubation period for AIDS, many cases with long incubation periods have not yet been diagnosed. Thus,

Kung-Jong Lui; Dale N. Lawrence; W. Meade Morgan; Thomas A. Peterman; Harry W. Haverkos; Dennis J. Bregman

1986-01-01

31

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases  

Microsoft Academic Search

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. Most patients are of northern European descent. The attacks manifest as fever and pain in the joints, abdomen, muscles, skin, or eyes, with variations across patients. An acute-phase response occurs during the attacks. Patients with TRAPS are at risk for AA amyloidosis,

Charles Masson; Virginie Simon; Emmanuel Hoppé; Paolo Insalaco; Idrissa Cissé; Maurice Audran

2004-01-01

32

Evaluation of periodic limb movements in a putative animal model of restless leg syndrome.  

PubMed

Restless leg syndrome (RLS) is a major healthcare burden with increasing prevalence. It has been demonstrated that periodic limb movements (PLM) can occur as an isolated phenomenon, but they are often associated with this syndrome and are the only symptom of this disorder that can be measured electrophysiologically. The aim of this study was to examine the sleep-wake behavior and the presence of limb movement in a rat model of RLS induced by lesioning the A11 dopaminergic nuclei with the neurotoxin 6-hydroxydopamine (6-OHDA). Rats were implanted with electrodes for electrocorticography and electromyography. Sleep recordings were monitored during light/dark periods lasting 12 hours each and were evaluated on days 7, 15, and 28 after injection of the drug or phosphate-buffered saline (PBS). A control group that did not receive any injection was also included. Wakefulness percentages were generated for 4-hour segments of the dark period, yielding the following 3 bins: 7 PM to 11 PM, 11 PM to 3 AM, and 3 PM to 7 PM. Additionally, slow wave sleep, paradoxical sleep, wakefulness, and limb movements were evaluated over the entire 12 hours of the light/dark cycle. All A11-lesioned rats exhibited an increased percentage of wakefulness during the last block of the dark period, as would be expected for an animal model of this syndrome. In addition, at all time points after lesioning, these animals presented increased frequencies of limb movement during both the light and the dark periods. These alterations were reversed by the acute administration of the dopaminergic agonist pramipexole. This animal model strengthens the notion that 6-OHDA-induced A11 lesions can be a valid animal model for RLS and PLM. PMID:22162115

Lopes, Cleide; Esteves, Andrea M; Frussa-Filho, Roberto; Tufik, Sergio; de Mello, Marco Tulio

2011-12-09

33

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…

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

2011-01-01

34

Transgenic mouse in vivo library of human Down syndrome critical region 1: association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration.  

PubMed

Down syndrome is the most frequent genetic cause of mental retardation, having an incidence of 1 in 700 live births. In the present study we used a transgenic mouse in vivo library consisting of 4 yeast artificial chromosome (YAC) transgenic mouse lines, each bearing a different fragment of the Down syndrome critical region 1 (DCR-1), implicated in brain abnormalities characterizing this pathology. The 152F7 fragment, in addition to genes also located on the other DCR-1 fragments, bears the DYRK1A gene, encoding for a serine-threonine kinase. The neurobehavioral analysis of these mouse lines showed that DYRK1A overexpressing 152F7 mice but not the other lines display learning impairment and hyperactivity during development. Additionally, 152F7 mice display increased brain weight and neuronal size. At a biochemical level we found DYRK1A overexpression associated with a development-dependent increase in phosphorylation of the transcription factor FKHR and with high levels of cyclin B1, suggesting for the first time in vivo a correlation between DYRK1A overexpression and cell cycle protein alteration. In addition, we found an altered phosphorylation of transcription factors of CREB family. Our findings support a role of DYRK1A overexpression in the neuronal abnormalities seen in Down syndrome and suggest that this pathology is linked to altered levels of proteins involved in the regulation of cell cycle. PMID:15198122

Branchi, Igor; Bichler, Zoë; Minghetti, Luisa; Delabar, Jean Maurice; Malchiodi-Albedi, Fiorella; Gonzalez, Marie-Claude; Chettouh, Zoubidda; Nicolini, Alessia; Chabert, Caroline; Smith, Desmond J; Rubin, Edward M; Migliore-Samour, Danièle; Alleva, Enrico

2004-05-01

35

Periodicity  

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.

2007-01-01

36

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

PubMed

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

2011-08-09

37

Actigraphic assessment of periodic leg movements in patients with restless legs syndrome.  

PubMed

The diagnosis of restless legs syndrome (RLS) relies upon diagnostic criteria which are based on history only, and dopaminergic treatment is not normally the first choice of treatment for all patients. It would be worthwhile to identify patients non-responsive to dopaminergic treatment beforehand, because they may suffer from a restless legs-like syndrome and may require alternative treatment. We included retrospectively 24 adult patients fulfilling the four essential criteria for restless legs and 12 age-matched healthy controls. They were investigated by ambulatory actigraphy from both legs over three nights, and patients started treatment with dopamine agonists after this diagnostic work-up. We examined 12 responders to dopaminergic treatment and 12 non-responders and studied the association between response to dopaminergic treatment and the periodic limb movement index (PLMI) as assessed with actigraphy. Demographic characteristics, excessive daytime sleepiness and fatigue at baseline were similar in all three groups. Baseline RLS severity was similar between responders and non-responders [International Restless Legs Severity Scale (IRLS): 25 ± 9 and 24 ± 8]. Group comparisons of PLMI before treatment initiation showed significant differences between the three groups. Post-hoc pairwise comparisons revealed that healthy controls had significantly lower PLMI (4.9 ± 4.5) than responders (29.3 ± 22.7) and non-responders (13.3 ± 11.2). Similarly, the PLMI in responders was lower than in non-responders. PLMI day-to-day variability did not differ between responders and non-responders and there was no correlation between treatment effect, as assessed by the decrease of the IRLS and baseline PLMI. Our retrospective study indicates that actigraphy to assess periodic limb movements may contribute to a better diagnosis of dopamine-responsive restless legs syndrome. PMID:23530689

Cippà, Maria A T; Baumann, Christian R; Siccoli, Massimiliano M; Bassetti, Claudio L; Poryazova, Rositsa; Werth, Esther

2013-03-26

38

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.  

PubMed

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia. Some patients have severe abdominal pain leading to abdominal surgery. Most reported cases of TRAPS involve patients of European ancestry, but there have been nine reports of patients with TRAPS in Japan. Here, we review these nine case reports. Reported TNFRSF1A gene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D. Fever (100 %) was seen in all 23 cases. Most patients developed rash (erythema) (84.6 %) and arthralgia (73.3 %), and half suffered from myalgia (54.5 %) and abdominal pain (50.0 %). Although one-half of the patients suffered from abdominal pain, none underwent surgery. In contrast, only a small percentage of patients suffered from chest pain (20.0 %), conjunctivitis (20.0 %), and headache (10.0 %). Almost all cases (95.7 %) concerned patients whose relatives suffered from periodic fever. These findings suggest that the clinical features of Japanese TRAPS patients may be milder than those of patients in Western countries. PMID:22918594

Washio, Masakazu; Nakano, Teruaki; Kawaguchi, Yasushi; Takagi, Kae; Kiyohara, Chikako; Tsukamoto, Hiroshi; Tokunaga, Shoji; Horiuchi, Takahiko

2012-08-24

39

Premenstrual tension syndrome with periodic bulimia nervosa: report of a case and review of the literature.  

PubMed

Premenstrual tension syndrome (PMS) is well known in its epidemiology, etiology, symptomatology and treatment. However, PMS characterized by bulimic episodes is rare. We report a case of a 20-year-old university student who suffered from uncontrollable binge eating premenstrually for six months before visiting our clinic. She was obese without any other notable family or medical history except the PMS noted for two years. A daily food diary for two consecutive menstrual cycles showed that the mean differences in caloric intake between premenstrual and postmenstrual days of two menstrual cycles were 679 and 703 calories, respectively. The greater peaks in caloric level were noted within the third to fifth days prior to the onset of menstruation. All binge episodes occurred in the premenstrual period, especially within five days prior to menstruation. In this report, we will also review the literature on the relationship between PMS and dietary intake, as well as bulimia nervosa. PMID:1360302

Lee, M C; Lee, S H

1992-07-01

40

Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan.  

PubMed

Cryopyrin-associated periodic syndrome (CAPS) is an orphan disease with incidence of about one in 1,000,000 persons. This autoinflammatory disease develops in the neonatal period or early childhood, with various inflammatory symptoms occurring repeatedly throughout the patient's lifetime. It is caused by abnormality of the NLRP3 protein which mediates the intracellular signal transduction mechanism of inflammatory processes, resulting in continuous overproduction of interleukin (IL)-1?, which induces chronic inflammation and progressive tissue damage. Definitive diagnosis of CAPS is difficult, and treatment has also been difficult because of a lack of effective medications in Japan. Clinical studies of human anti-human IL-1? monoclonal antibody (canakinumab) treatment were conducted in Japan, and approval was granted for therapeutic use of canakinumab for CAPS in September 2011. Similar to other biological drugs, canakinumab is clinically highly effective. However, sufficient attention to the method of use and adverse drug reactions is necessary. This guidance describes the use of canakinumab in Japan for CAPS in relation to exclusion criteria, method of use, evaluation criteria, and adverse drug reactions. PMID:23085882

Yokota, Shumpei; Nishikomori, Ryuta; Takada, Hidetoshi; Kikuchi, Masako; Nozawa, Tomo; Kanetaka, Taichi; Kizawa, Toshitaka; Miyamae, Takako; Mori, Masaaki; Heike, Toshio; Hara, Toshiro; Imagawa, Tomoyuki

2012-10-20

41

A model-based approach for estimating the mean incubation period of transfusion-associated acquired immunodeficiency syndrome.  

PubMed Central

The incubation period, representing the interval between the date of exposure and the date of diagnosis, can be firmly ascertained in transfusion-associated cases of acquired immunodeficiency syndrome (AIDS). However, because the observation period of all transfusion-infected persons may be short compared with the average incubation period for AIDS, many cases with long incubation periods have not yet been diagnosed. Thus, the simple average of 2.6 years tends to underestimate the true mean. To correct for this underestimation bias, we assumed that the underlying distribution of the incubation periods is a member of a broad class of probability densities. Then, by maximum likelihood techniques, the mean incubation period for transfusion-associated AIDS was estimated to be 4.5 years, with the 90% confidence interval ranging from 2.6 to 14.2 years. The long incubation period has important consequences for infected individuals and implications for public health intervention and prevention policy.

Lui, K J; Lawrence, D N; Morgan, W M; Peterman, T A; Haverkos, H W; Bregman, D J

1986-01-01

42

EFNS guidelines on management of restless legs syndrome and periodic limb movement disorder in sleep.  

PubMed

In 2003, the EFNS Task Force was set up for putting forth guidelines for the management of the Restless Legs Syndrome (RLS) and the Periodic Limb Movement Disorder (PLMD). After determining the objectives for management and the search strategy for primary and secondary RLS and for PLMD, a review of the scientific literature up to 2004 was performed for the drug classes and interventions employed in treatment (drugs acting on the adrenoreceptor, antiepileptic drugs, benzodiazepines/hypnotics, dopaminergic agents, opioids, other treatments). Previous guidelines were consulted. All trials were analysed according to class of evidence, and recommendations formed according to the 2004 EFNS criteria for rating. Dopaminergic agents came out as having the best evidence for efficacy in primary RLS. Reported adverse events were usually mild and reversible; augmentation was a feature with dopaminergic agents. No controlled trials were available for RLS in children and for RLS during pregnancy. The following level A recommendations can be offered: for primary RLS, cabergoline, gabapentin, pergolide, ropinirole, levodopa and rotigotine by transdermal delivery (the latter two for short-term use) are effective in relieving the symptoms. Transdermal oestradiol is ineffective for PLMD. PMID:16987157

Vignatelli, L; Billiard, M; Clarenbach, P; Garcia-Borreguero, D; Kaynak, D; Liesiene, V; Trenkwalder, C; Montagna, P

2006-10-01

43

[An approach to the patients with cryopyrin-associated periodic syndrome (CAPS) : a new biologic response modifier, canakinumab].  

PubMed

Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, autoinflammatory syndrome, and includes 3 distinct conditions, familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (MONID). These syndromes are characterized by urticarial-like rash, periodic fever, central nervous system inflammation, an arthropathy, and the risk of amyloidosis. About 20% die by age 20 years in the most severe cases. The disease is associated with mutations in the NLRP3 gene that encodes for the protein cryopyrin, a component of the inflammasome complex that regulates the production and secretion of IL-1?. Canakinumab is a human IgG monoclonal antibody targeting IL-1?. The clinical trials of canakinumab for patients with CAPS in both western countries and Japan were well-tolerated in most patients, and provided significant advantages over existing competitive therapies. Although no serious adverse effects have been reported, the frequencies of common infectious diseases including nasopharyngitis, upper respiratory tract infections, and gastroenteritis were reported presumably due to the blockade of proinflammatory cytokine, IL-1?. For us pediatrician, it will be important to be more careful for infectious diseases to provide the maximum safety of canakinumab for these patients. PMID:22374439

Yokota, Shumpei; Kikuchi, Masako; Nozawa, Tomo; Kizawa, Toshiatsu; Kanetaka, Taichi; Miyamae, Takako; Mori, Masa-aki; Nishikomori, Ryohta; Takata, Hidetoshi; Heike, Toshio; Hara, Toshiro; Imagawa, Tomoyuki

2012-01-01

44

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases.  

PubMed

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. Most patients are of northern European descent. The attacks manifest as fever and pain in the joints, abdomen, muscles, skin, or eyes, with variations across patients. An acute-phase response occurs during the attacks. Patients with TRAPS are at risk for AA amyloidosis, the most common targets being the kidneys and liver. Soluble TNFRSF1A is usually low between the attacks and may be normal during the attacks, when TNF levels are high. TNFRSF1A is found in abnormally high numbers on leukocyte cell membranes. TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region. In some patients, the pathogenesis involves defective TNFRSF1A shedding from cell membranes in response to a given stimulus. Thus, TRAPS is a model for a novel pathogenic concept characterized by failure to shed a cytokine receptor. This review compares TRAPS to other inherited periodic febrile conditions, namely, familial Mediterranean fever, Muckle-Wells syndrome, cold urticaria, and hyper-IgD syndrome. The place of TRAPS relative to other intermittent systemic joint diseases is discussed. Colchicine neither relieves nor prevents the attacks, whereas oral glucocorticoid therapy is effective when used in dosages greater than 20 mg/day. The pathogenic hypothesis involving defective TNFRSF1A shedding suggests that medications targeting TNF may be effective in TRAPS. PMID:15288852

Masson, Charles; Simon, Virginie; Hoppé, Emmanuel; Insalaco, Paolo; Cissé, Idrissa; Audran, Maurice

2004-07-01

45

A Case Report of AA Amyloidosis Associated With Familial Periodic Fever Syndrome Diagnosed After Kidney Transplantation: Never Say Never.  

PubMed

Recurrent or "de novo" AA amyloidosis in the renal allograft is rarely described. We describe a case of severe nephrotic syndrome in a recipient of a kidney graft with a previous diagnosis of polycystic nephropathy caused by AA amyloidosis diagnosed only after the renal transplantation. The disease was possibly a tumor necrosis factor receptor-associated periodic syndrome (TRAPS). TRAPS is a rare hereditary inflammatory disease never reported to the best of our knowledge, as a de novo diagnosis in the transplantation setting. Biopsy of the renal graft, indicated for the onset of heavy proteinuria, and genetic investigation provided the clues for diagnosis. PMID:24034047

Messina, M; Daidola, G; Restagno, G; Lavacca, A; Ranghino, A; Biancone, L; Segoloni, G P

2013-09-01

46

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

Microsoft Academic Search

Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have

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

2011-01-01

47

Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.  

PubMed

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD. Mevalonate kinase (MK) activity was deficient in all of them, and analysis of the MVK gene revealed compound heterozygosity for 2 new mutations, one of which was the disease-causing splicing mutation and the other was a novel missense mutation. All the patients had the same compound heterozygous mutations c.227-1 G > A and c.833 T > C, which resulted in exon 4 skipping and p.Val278Ala. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. In each case, in which HIDS is clinically suspected, despite normal IgD level, analysis of MK activity and the MVK gene should be performed. PMID:22159817

Mizuno, Takahisa; Sakai, Hidemasa; Nishikomori, Ryuta; Oshima, Koichi; Ohara, Osamu; Hata, Ikue; Shigematsu, Yosuke; Ishige, Takashi; Tamura, Kazushi; Arakawa, Hirokazu

2011-12-11

48

SPECT imaging of striatal pre- and postsynaptic dopaminergic status in restless legs syndrome with periodic leg movements in sleep  

Microsoft Academic Search

Restless legs syndrome (RLS) is a common sleep-related disorder principally characterised by leg paresthesia associated with\\u000a an irresistible urge to move. A majority of RLS patients experience periodic leg movements during sleep (PLMS) and wakefulness.\\u000a Pharmacological evidence suggests that RLS-PLMS may be caused by a central nervous system dopaminergic (DA) dysfunction. The\\u000a aim of the present study was to evaluate

Martin Michaud; Jean-Paul Soucy; Allal Chabli; Gilles Lavigne; Jacques Montplaisir

2002-01-01

49

Sj?gren syndrome presenting with hypopotassemic periodic paralysis due to renal tubular acidosis  

PubMed Central

Summary Background: Sjögren syndrome (SS) is an autoimmune-lymphoproliferative disorder characterized by mononuclear cell infiltration of exocrine glands. Clinically, Sjögren syndrome (SS) has a wide spectrum, varying from autoimmune exocrinopathy to systemic involvement. There have been few cases reporting that primary SS developed with distal renal tubular acidosis clinically. Case Report: Here, we present a case with primary Sjögren syndrome accompanied by hypopotassemic paralysis due to renal tubular acidosis. Severe hypopotassemia, hyperchloremic metabolic acidosis, alkaline urine and disorder in urinary acidification test were observed in the biochemical examination of the 16-year-old female patient, who had applied to our clinic for extreme loss of muscle force. After the examinations it was determined that the patient had developed Type 1 RTA (distal RTA) due to primary Sjögren syndrome. Potassium and alkaline replacement was made and an immediate total recovery was achieved. Conclusions: Hypopotassemic paralysis due to primary Sjögren syndrome is a rare but severe disorder that could lead to death if not detected early and cured appropriately. Thus, effective treatment should be immediately initiated in cases where severe hypopotassemia is accompanied by metabolic acidosis, and the cases should also be examined for extraglandular involvement of SS.

Ataoglu, Esra Hayriye; Demir, Betul; Tuna, Mazhar; Cavus, Bilger; Cetin, Faik; Temiz, Levent Umit; Ozturk, Savas; Yenigun, Mustafa

2012-01-01

50

Development of chronic epilepsy after recurrent episodes of posterior reversible encephalopathy syndrome associated with periodic lateralized epileptiform discharges.  

PubMed

Posterior Reversible Encephalopathy Syndrome (PRES) is a syndrome comprising headache, altered mentation, and seizures, associated with neuroimaging findings characteristic of subcortical edema in the posterior regions. It is usually seen in patients treated with immunosuppressants, in renal failure, or with eclampsia. Recurrent episodes of PRES in the same patient are rarely observed. Although seizures are often seen in PRES, EEG findings are not well described and include generalized and focal slowing with epileptiform discharges; there are limited reports of Periodic Lateralized Epileptiform Discharges (PLEDs) occurring during PRES, and there are no reports of PRES associated with PLEDs with subsequent development of epilepsy. We report a patient we followed for one year with recurrent episodes of PRES associated with posteriorly dominant independent bilateral PLEDs who subsequently developed epilepsy. Patients with PRES and PLEDs should be treated aggressively with anti-hypertensive and anti-epileptic agents in order to avoid potential complications. Although PRES is typically thought of as a reversible syndrome, this case illustrates that PRES may have serious long term sequelae after the reversible syndrome has resolved. This case highlights the importance of aggressive management of PRES as well as the prevention of subsequent episodes of PRES as patients may develop permanent brain dysfunction. PMID:21115371

Skiba, Virginia; Etienne, Mill; Miller, Joseph A

2010-11-05

51

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

ERIC Educational Resources Information Center

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

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

2007-01-01

52

The influence of sex, age and sleep\\/wake state on characteristics of periodic leg movements in restless legs syndrome patients  

Microsoft Academic Search

Restless legs syndrome (RLS) patients experience periodic stereotyped leg movements while awake and during sleep. The aim of the present study was to measure the effects of sex, age and the sleep\\/wake state on several characteristics (frequency, duration and periodicity) of these periodic leg movements (PLM). One hundred unrelated patients diagnosed with primary RLS were studied. During wakefulness, frequency of

Alain Nicolas; Martin Michaud; Gilles Lavigne; Jacques Montplaisir

1999-01-01

53

Hypokalemic periodic paralysis in Sjogren's syndrome secondary to distal renal tubular acidosis.  

PubMed

We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up showed a strongly positive ANA of 1:3,200 and positive antibodies to SSA and SSB. Schirmer's test was abnormal. Autoimmune and other tests revealed Sjögren syndrome as the underlying cause of the distal renal tubular acidosis. Renal involvement in Sjogren's syndrome (SS) is not uncommon and may precede sicca complaints. The pathology in most cases is a tubulointerstitial nephritis causing among other things, distal RTA, and, rarely, hypokalemic paralysis. Treatment consists of potassium repletion, alkali therapy, and corticosteroids. Primary SS could be a differential in women with acute weakness and hypokalemia. PMID:22212410

Y?lmaz, Hakk?; Kaya, Mustafa; Özbek, Mustafa; ÜUreten, Kemal; Safa Y?ld?r?m, ?

2012-01-03

54

Headache and Status Epilepticus in the Postpartum Period; Posterior Reversible Encephalopathy Syndrome or Cerebral Venous Thrombosis?  

PubMed Central

We report a case of a young woman, with a history of a miscarriage and a molar pregnancy, who developed headache and status epilepticus in postpartum day three. Posterior reversible encephalopathy syndrome (PRES) and cerebral venous and sinus thrombosis (CVST) can present with identical clinical picture; however, the imaging findings can help the clinician to make the correct diagnosis and initiate the appropriate treatment. Both PRES and CVST are medical emergencies and fully reversible entities especially when treatment initiation is immediate.

Tavernarakis, Antonios

2013-01-01

55

The Motor System and Narcolepsy: Periodic Leg Movements and Restless Legs Syndrome  

Microsoft Academic Search

\\u000a Restless legs syndrome (RLS) is a sensorimotor disorder with the cardinal symptoms consisting of an urge to move the legs\\u000a because of unpleasant sensations, appearing during rest or inactivity, worsening at evening or during the night, which are\\u000a partially or totally recovered by movement [1]. Depending on the severity and frequency of the symptoms, RLS is often associated\\u000a with insomnia

Luigi Ferini-Strambi

56

Periodic exophthalmos associated with the blue rubber bleb naevus syndrome: a case report  

Microsoft Academic Search

A 71-year-old woman with the blue rubber bleb naevus syndrome experienced 4 episodes of self-limiting unilateral exophthalmos. Is is suggested that a vascular malformation in the orbit is responsible for this phenomenon. A biopsy sample was taken of one of the cutaneous lesions and studied by light and transmission electron microscopy. The histological appearances are discussed in relation to possible

I G Rennie; J R Shortland; J M Mahood; B H Browne

1982-01-01

57

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.

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.

2013-01-01

58

Recurrent diplopia over a 30-year period: natural history of a Lewis and Sumner syndrome.  

PubMed

We described the case of a patient with recurrent episodes of isolated diplopia over the last 30 years. On her last event, neurological examination revealed not only a right third and sixth cranial nerves involvement, but also a right peripheral facial palsy and a motor weakness on the left ulnar territory. Electrophysiological nerves motor conduction study revealed a conduction block on the left ulnar nerve and a less severe on the right ulnar nerve. Asymmetrical upper limb sensorimotor weakness combined with conduction block and cranial nerves palsy led to a diagnosis of Lewis and Sumner syndrome (LSS). This case is unusual by the presentation of the disease and is, to our knowledge the longer natural disease course of LSS reported. Moreover, it suggests that the recurrent diplopia variant may represent a separate entity with a good prognosis even in absence of invasive treatment. PMID:22426656

Lefaucheur, Romain; Bouwyn, Jean Paul; Wallon, David; Bedat-Millet, Anne-Laure; Ahtoy, Patrick; Perot, Guillaume; Hannequin, Didier; Maltête, David

2012-01-19

59

Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans  

Microsoft Academic Search

Biological circadian clocks oscillate with an approximately 24-hour period, are ubiquitous, and presumably confer a selective advantage by anticipating the transitions between day and night. The circadian rhythms of sleep, melatonin secretion and body core temperature are thought to be generated by the suprachiasmatic nucleus of the hypothalamus, the anatomic locus of the mammalian circadian clock. Autosomal semi-dominant mutations in

Christopher R. Jones; Scott S. Campbell; Stephanie E. Zone; Fred Cooper; Alison DeSano; Patricia J. Murphy; Bryan Jones; Laura Czajkowski; Louis J. Pt?ek

1999-01-01

60

Refined multiscale entropy analysis of heart period and QT interval variabilities in long QT syndrome type-1 patients.  

PubMed

This study assesses complexity of cardiovascular control in patients affected by type-1 variant of long QT (LQT1) syndrome. Complexity was assessed by refined multiscale entropy of heart period (HP) and QT interval variabilities. HP was taken as the time distance between two consecutive R peaks (RR) and QT interval was approximated as the time distance between the R-peak and T-wave apex (RTa) and between R-peak and T-wave end (RTe). RR, RTa and RTe intervals were automatically extracted from 24h Holter recordings and the daytime period was analyzed (from 02?00 to 06:00 PM). Non mutation carrier (NMC) individuals (n=11), utilized as a control group, were taken from the same family line of the mutation carrier (MC) subjects (n=26). We found that, while NMC and MC groups were indistinguishable based on time domain and complexity analyses of RR dynamics, complexity analysis of RTa and RTe variabilities clearly separates the two populations and suggests an impairment in the cardiac control mechanisms acting on the ventricles. PMID:24110995

Bari, Vlasta; Valencia, Jose F; Vallverdu, Montserrat; Girardengo, Giulia; Bassani, Tito; Marchi, Andrea; Calvillo, Laura; Caminal, Pere; Cerutti, Sergio; Brink, Paul A; Crotti, Lia; Schwartz, Peter J; Porta, Alberto

2013-07-01

61

Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.  

PubMed Central

OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the Cochrane Pregnancy and Childbirth Group. No previous specific recommendations concerning triple-make

Dick, P T

1996-01-01

62

Age at Postnatal Diagnosis of Down Syndrome in the Northern Netherlands for the Period 1981–2000  

Microsoft Academic Search

Background: In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should start early in life. We were interested in the age at the postnatal diagnosis of Down syndrome,

J. S. J. Heuterman; H. E. K. de Walle; M. C. Poortvliet; K. Bouman; M. C. Cornel

2004-01-01

63

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

PubMed Central

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

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

2011-01-01

64

Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability.  

PubMed

The mammalian circadian clock component PERIOD2 (PER2) plays a critical role in circadian rhythm entrainment. Recently, a missense mutation at a putative phosphorylation site in hPER2, Ser-662, was identified in patients that suffer from familial advanced sleep phase syndrome (FASPS). Patients with FASPS display abnormal sleep-wake patterns characterized by a lifelong pattern of sleep onset in the early evening and offset in the early morning. Although the phosphorylation of PER2 is strongly implied from functional studies, it has not been possible to study the site-specific phosphorylation of PER2 on Ser-662, and the biochemical functions of this residue are unclear. Here, we used phospho-specific antibodies to show that PER2 is phosphorylated on Ser-662 and flanking casein kinase (CK) sites in vivo. The phosphorylation of PER2 was carried out by the combined activities of casein kinase 1? (CK1 ?) and casein kinase 1? (CK1?) and was antagonized by protein phosphatase 1. PER2 phosphorylation was rapidly induced in response to circadian entrainment of mammalian cell lines and occurred in both cytosolic and nuclear compartments. Importantly, we found that the pool of Ser-662-phosphorylated PER2 proteins was more stable than the pool of total PER2 molecules, implying that the FASPS phosphorylation cluster antagonizes PER2 degradation. Consistent with this idea, a Ser-662?Ala mutation that abrogated PER2 phosphorylation significantly reduced its half-life, whereas a phosphomimetic Ser-662?Asp substitution led to an elevation in half-life. Our combined findings provide new insights into PER2 regulation and the biochemical basis of FASPS. PMID:21324900

Shanware, Naval P; Hutchinson, John A; Kim, Sang Hwa; Zhan, Lihong; Bowler, Michael J; Tibbetts, Randal S

2011-02-15

65

Casein Kinase 1-dependent Phosphorylation of Familial Advanced Sleep Phase Syndrome-associated Residues Controls PERIOD 2 Stability*  

PubMed Central

The mammalian circadian clock component PERIOD2 (PER2) plays a critical role in circadian rhythm entrainment. Recently, a missense mutation at a putative phosphorylation site in hPER2, Ser-662, was identified in patients that suffer from familial advanced sleep phase syndrome (FASPS). Patients with FASPS display abnormal sleep-wake patterns characterized by a lifelong pattern of sleep onset in the early evening and offset in the early morning. Although the phosphorylation of PER2 is strongly implied from functional studies, it has not been possible to study the site-specific phosphorylation of PER2 on Ser-662, and the biochemical functions of this residue are unclear. Here, we used phospho-specific antibodies to show that PER2 is phosphorylated on Ser-662 and flanking casein kinase (CK) sites in vivo. The phosphorylation of PER2 was carried out by the combined activities of casein kinase 1? (CK1 ?) and casein kinase 1? (CK1?) and was antagonized by protein phosphatase 1. PER2 phosphorylation was rapidly induced in response to circadian entrainment of mammalian cell lines and occurred in both cytosolic and nuclear compartments. Importantly, we found that the pool of Ser-662-phosphorylated PER2 proteins was more stable than the pool of total PER2 molecules, implying that the FASPS phosphorylation cluster antagonizes PER2 degradation. Consistent with this idea, a Ser-662 ? Ala mutation that abrogated PER2 phosphorylation significantly reduced its half-life, whereas a phosphomimetic Ser-662 ? Asp substitution led to an elevation in half-life. Our combined findings provide new insights into PER2 regulation and the biochemical basis of FASPS.

Shanware, Naval P.; Hutchinson, John A.; Kim, Sang Hwa; Zhan, Lihong; Bowler, Michael J.; Tibbetts, Randal S.

2011-01-01

66

RETROSPECTIVE ANALYSIS OF STEVENS-JOHNSON SYNDROME AND TOXIC EPIDERMAL NECROLYSIS OVER A PERIOD OF 10 YEARS  

PubMed Central

Background: Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN), are the acute emergencies in dermatology practice. Prompt diagnosis and management may reduce the morbidity and mortality in SJS/TEN patients. Early identification of the offending drug is necessary for early withdrawal and to prevent the recurrences of such a devastating illness. Aims To study the demography, offending agents, clinical and laboratory features, treatment, complications, morbidity and mortality of SJS/TEN in our hospital. Materials and Methods: In this retrospective study, we reviewed the medical records of SJS, TEN, SJS/TEN overlap of inpatients over a period of 10 years Results: Maximum number of SJS/TEN cases were in the age group of 11-30 years. Males predominated in the SJS group with a ratio of 1.63:1, whereas females predominated the TEN group with a ratio of 1:2.57.Nonsteroidal anti-inflammatory drugs (NSAIDs) were the commonest group of drugs among the SJS group in 5/21 patients (23.8%). Antimicrobials were the commonest group of drugs causing TEN in 11/25 patients (44%). Mucosal lesions preceded the onset of skin lesions in nearly 50%. Our study had one patient each of SJS/TEN due to amlodipine and Phyllanthus amarus, an Indian herb. The most common morbidity noted in our study was due to ocular sequelae and sepsis leading to acute renal failure respectively. Kaposi's varicelliform eruption was found in three of our patients. Conclusion: Antimicrobials and NSAIDS are the common offending agents of SJS/TEN in our study.

Sanmarkan, Abarna Devi; Sori, Tukaram; Thappa, Devinder Mohan; Jaisankar, T J

2011-01-01

67

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

PubMed

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

2013-09-16

68

Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A  

Microsoft Academic Search

Objective. To investigate the levels of the pro-inflammatory cytokines IL-6, TNF-a, IL-1b, IL-8, IL-10 and IL-12p70 in the plasma of patients with TNF receptor-associated periodic syndrome (TRAPS) in relation to CRP levels and treatment with etanercept. Methods. Cytokine concentrations were measured in sequential plasma samples obtained from eight patients with a C33Y mutation in TNFRSF1A and diagnosed with TRAPS, using

M. L. Nowlan; E. Drewe; H. Bulsara; N. Esposito; R. A. Robins; P. J. Tighe; R. J. Powell; I. Todd

2005-01-01

69

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

2008-01-01

70

Is metabolic syndrome X a disorder of the brain with the initiation of low-grade systemic inflammatory events during the perinatal period?  

Microsoft Academic Search

An imbalance between pro- and anti-inflammatory molecules occurs in metabolic syndrome X. High-energy diet, saturated fats and trans-fats during perinatal period could suppress ?6 and ?5 desaturases both in the maternal and fetal tissues, resulting in a decrease in the concentrations of long-chain polyunsaturated fatty acids (LCPUFAs): arachidonic acid (AA), eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) that have a

Undurti N. Das

2007-01-01

71

The clinical neurophysiology of the restless legs syndrome and periodic limb movements. Part I: diagnosis, assessment, and characterization  

Microsoft Academic Search

Objective: The restless legs syndrome is a common sensorimotor disorder impacting on sleep which has been known for centuries, but only recently become recognized as a significant clinical and pathophysiological problem. The definition of RLS has evolved until certain key clinical features have been defined as diagnostic, while others are strongly associated: the urge to move is seen as primary.

Wayne Hening

2004-01-01

72

Mevalonate Kinase Deficiency (Hyper IgD Syndrome with Periodic Fever) - Different Faces with Separate Treatments: Two Cases and Review of the Literature.  

PubMed

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies. PMID:23692791

Gençp?nar, P?nar; Makay, Balahan B; Gattorno, Marco; Caroli, Francesco; Unsal, Erbil

73

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

PubMed

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

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

2012-03-23

74

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

2006-01-01

75

Continuous follicle-stimulating hormone exposure from pituitary adenoma causes periodic follicle recruitment and atresia, which mimics ovarian hyperstimulation syndrome  

PubMed Central

Context Follicle-stimulating hormone (FSH)-secreting pituitary adenoma is usually a nonfunctioning tumor, but in rare cases it may develop into ovarian hyperstimulation. Several reports have revealed that serum FSH levels are normal to slightly high in patients with combined FSH-secreting pituitary adenoma with ovarian hyperstimulation. This finding is different from iatrogenic ovarian hyperstimulation syndrome (OHSS), which is associated with extremely high levels of FSH. Objective To describe the clinical course of two patients who developed OHSS from FSH-secreting pituitary adenoma. Results Endocrine studies of the two cases revealed that FSH levels were normal or slightly increased, but luteinizing hormone levels were low to undetectable. Their estradiol (E2) levels were intriguing: levels fluctuated drastically over 6 weeks in Case 1, but stayed flat in Case 2. Ultrasonographic examinations showed bilaterally enlarged multicystic ovaries, and magnetic resonance imaging indicated pituitary tumors. Transsephenoidal resection of the tumors ameliorated the symptoms and pathological diagnosis revealed FSH-secreting pituitary adenomas. Conclusion As is not the case in iatrogenic OHSS, even a small to moderate amount of FSH stimulation, which is continuously secreted by a pituitary adenoma, can cause ovarian hyperstimulation. Although FSH-secreting pituitary adenoma can cause ovarian hyperstimulation, an extremely high amount of E2 biosynthesis from granulosa cells seldom occurs.

Kanaya, Mika; Baba, Tsuyoshi; Kitajima, Yoshimitsu; Ikeda, Keiko; Shimizu, Ayumi; Morishita, Miyuki; Honnma, Hiroyuki; Endo, Toshiaki; Saito, Tsuyoshi

2012-01-01

76

Genotype-phenotype correlation in L1 associated diseases.  

PubMed Central

The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain.

Fransen, E; Van Camp, G; D'Hooge, R; Vits, L; Willems, P J

1998-01-01

77

Change in frequency of periodic limb movements during sleep with usage of continuous positive airway pressure in obstructive sleep apnea syndrome.  

PubMed

Periodic limb movements during sleep (PLMS) sometimes newly appear on the night of continuous positive airway pressure (CPAP) titration in patients with obstructive sleep apnea syndrome (OSAS). To ascertain the incidence and causative factors of this phenomenon, we investigated differences in its prevalence and the factors associated with newly appeared and persistent PLMS on CPAP titration night. We retrospectively analyzed polysomnographic data of 997 consecutive OSAS outpatients who had undergone overnight CPAP titration. On the basis of changes in periodic limb movements index (PLMI) values (cut off level?15/h) from baseline polysomnography (BPSG) to CPAP titration PSG, patients were assigned to one of four groups: persistent, CPAP-emergent, CPAP-disappeared, and non-PLMS. The rate of patients was 6.7% in the persistent group, 8.0% in the CPAP-emergent group, 4.0% in the CPAP-disappearance group, and 81.2% in the non-PLMS group. Multivariate logistic regression analysis revealed that a higher apnea-hypopnea index (AHI) on BPSG and ?47years of age appeared to be associated with the CPAP-emergent group. The results suggest that elderly patients with higher AHI at BPSG may present with CPAP-emergent PLMS. PMID:22498043

Aritake-Okada, Sayaka; Namba, Kazuyoshi; Hidano, Natsuki; Asaoka, Shoichi; Komada, Yoko; Usui, Akira; Matsuura, Masato; Inoue, Yuichi

2012-04-11

78

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age  

PubMed Central

Introduction Interleukin-1 (IL-1) blockade is the treatment of choice of cryopyrin associated periodic syndromes (CAPS). Anti-IL-1 monoclonal antibody (canakinumab) was recently registered. However no clear data are available on the optimal schedule of administration of this drug. The aim of the present study was to analyse the impact of canakinumab on CAPS patients in daily clinical practice and to identify the best schedule of administration according to age and phenotype. Methods 13 CAPS patients (10 children and 3 young adults) treated with canakinumab were followed for 12 months. Clinical and laboratory parameters were collected at each visit. Health-related quality of life (HRQoL) was recorded at month 12. Complete response was defined as absence of clinical manifestations and normal examinations. Clinical and laboratory variables at last follow-up were compared with those registered at the moment of anakinra discontinuation. Results seven patients with chronic infantile neurological cutaneous articular (CINCA) syndrome, four patients with Muckle-Wells syndrome (MWS) and two patients with an overlapping MWS/CINCA phenotype were analysed. CINCA patients experienced a higher number of modifications of the treatment (increased dosage or decreased dosing interval) in respect to MWS patients. At the end of the follow-up CINCA patients displayed a higher frequency of administration with a median dose of 3.7 mg/kg (2.1 mg/kg for MWS patients). Canakinumab was withdrawn in a patient with CINCA for incomplete response and poor compliance. The effect of canakinumab on HRQoL was similar to that observed during treatment with anakinra, with the exception of an improvement of the psychosocial concepts after the introduction of canakinumab. Conclusions The use of canakinumab in daily practice is associated with persistent satisfactory control of disease activity but needs progressive dose adjustments in more severe patients. The clinical phenotype, rather than the age, represents the main variable able to determine the need of more frequent administrations of the drug at higher dosage.

2013-01-01

79

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.  

PubMed

INTRODUCTION: Interleukin-1 (IL-1) blockade is the treatment of choice of cryopyrin associated periodic syndromes (CAPS). Anti-IL-1 monoclonal antibody (canakinumab) was recently registered. However no clear data are available on the optimal schedule of administration of this drug. The aim of the present study was to analyse the impact of canakinumab on CAPS patients in daily clinical practice and to identify the best schedule of administration according to age and phenotype. METHODS: 13 CAPS patients (10 children and 3 young adults) treated with canakinumab were followed for 12 months. Clinical and laboratory parameters were collected at each visit. Health-related quality of life (HRQoL) was recorded at month 12. Complete response was defined as absence of clinical manifestations and normal examinations. Clinical and laboratory variables at last follow-up were compared with those registered at the moment of anakinra discontinuation. RESULTS: seven patients with chronic infantile neurological cutaneous articular (CINCA) syndrome, four patients with Muckle-Wells syndrome (MWS) and two patients with an overlapping MWS/CINCA phenotype were analysed. CINCA patients experienced a higher number of modifications of the treatment (increased dosage or decreased dosing interval) in respect to MWS patients. At the end of the follow-up CINCA patients displayed a higher frequency of administration with a median dose of 3.7 mg/kg (2.1 mg/kg for MWS patients). Canakinumab was withdrawn in a patient with CINCA for incomplete response and poor compliance. The effect of canakinumab on HRQoL was similar to that observed during treatment with anakinra, with the exception of an improvement of the psychosocial concepts after the introduction of canakinumab. CONCLUSIONS: The use of canakinumab in daily practice is associated with persistent satisfactory control of disease activity but needs progressive dose adjustments in more severe patients. The clinical phenotype, rather than the age, represents the main variable able to determine the need of more frequent administrations of the drug at higher dosage. PMID:23442610

Caorsi, Roberta; Lepore, Loredana; Zulian, Francesco; Alessio, Maria; Stabile, Achille; Insalaco, Antonella; Finetti, Martina; Battagliese, Antonella; Martini, Giorgia; Bibalo, Chiara; Martini, Alberto; Gattorno, Marco

2013-02-26

80

A 12-Week, Randomized, Controlled Trial With a 4-Week Randomized Withdrawal Period to Evaluate the Efficacy and Safety of Linaclotide in Irritable Bowel Syndrome With Constipation  

PubMed Central

OBJECTIVES: Linaclotide is a minimally absorbed guanylate cyclase-C agonist. The objective of this trial was to determine the efficacy and safety of linaclotide in patients with irritable bowel syndrome with constipation (IBS-C). METHODS: This phase 3, double-blind, parallel-group, placebo-controlled trial randomized IBS-C patients to placebo or 290??g oral linaclotide once daily in a 12-week treatment period, followed by a 4-week randomized withdrawal (RW) period. There were four primary end points, the Food and Drug Administration's (FDA's) primary end point for IBS-C (responder: improvement of ?30% in average daily worst abdominal pain score and increase by ?1 complete spontaneous bowel movement (CSBM) from baseline (same week) for at least 50% of weeks assessed) and three other primary end points, based on improvements in abdominal pain and CSBMs for 9/12 weeks. Adverse events (AEs) were monitored. RESULTS: The trial evaluated 800 patients (mean age=43.5 years, female=90.5%, white=76.9%). The FDA end point was met by 136/405 linaclotide-treated patients (33.6%), compared with 83/395 placebo-treated patients (21.0%) (P<0.0001) (number needed to treat: 8.0, 95% confidence interval: 5.4, 15.5). A greater percentage of linaclotide patients, compared with placebo patients, reported for at least 6/12 treatment period weeks, a reduction of ?30% in abdominal pain (50.1 vs. 37.5%, P=0.0003) and an increase of ?1 CSBM from baseline (48.6 vs. 29.6%, P<0.0001). A greater percentage of linaclotide patients vs. placebo patients were also responders for the other three primary end points (P<0.05). Significantly greater improvements were seen in linaclotide vs. placebo patients for all secondary end points (P<0.001). During the RW period, patients remaining on linaclotide showed sustained improvement; patients re-randomized from linaclotide to placebo showed return of symptoms, but without worsening of symptoms relative to baseline. Diarrhea, the most common AE, resulted in discontinuation of 5.7% of linaclotide and 0.3% of placebo patients. CONCLUSIONS: Linaclotide significantly improved abdominal pain and bowel symptoms associated with IBS-C for at least 12 weeks; there was no worsening of symptoms compared with baseline following cessation of linaclotide during the RW period.

Rao, Satish; Lembo, Anthony J; Shiff, Steven J; Lavins, Bernard J; Currie, Mark G; Jia, Xinwei D; Shi, Kelvin; MacDougall, James E; Shao, James Z; Eng, Paul; Fox, Susan M; Schneier, Harvey A; Kurtz, Caroline B; Johnston, Jeffrey M

2012-01-01

81

Role of tumour necrosis factor (TNF)-? and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis  

PubMed Central

It has long been known that tumour necrosis factor (TNF)/TNFRSF1A signalling is involved in the pathophysiology of multiple sclerosis (MS). Different genetic and clinical findings over the last few years have generated renewed interest in this relationship. This paper provides an update on these recent findings. Genome-wide association studies have identified the R92Q mutation in the TNFRSF1A gene as a genetic risk factor for MS (odds ratio 1·6). This allele, which is also common in the general population and in other inflammatory conditions, therefore only implies a modest risk for MS and provides yet another piece of the puzzle that defines the multiple genetic risk factors for this disease. TNFRSF1A mutations have been associated with an autoinflammatory disease known as TNF receptor-associated periodic syndrome (TRAPS). Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS symptoms. Hypothetically, the co-existence of MS and TRAPS or a co-morbidity relationship between the two could be mediated by this mutation. The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS. Nevertheless, this mutation does not appear to be a severity marker of the disease, neither modifying the clinical progression of MS nor its therapeutic response. An alteration in TNF/TNFRS1A signalling may increase proinflammatory signals; the final clinical phenotype may possibly be determined by other genetic or environmental modifying factors that have not yet been identified.

Caminero, A; Comabella, M; Montalban, X

2011-01-01

82

Early weaning causes undernutrition for a short period and programmes some metabolic syndrome components and leptin resistance in adult rat offspring.  

PubMed

Maternal malnutrition during lactation programmes for overweight and central leptin resistance in adulthood. The inhibition of lactation by maternal treatment with bromocriptine (a prolactin inhibitor) programmes for obesity, hyperleptinaemia and leptin resistance. Here, we evaluated the short- and long-term effects of early weaning (EW) on body-weight regulation, leptin signalling, and hormone and lipid profiles in rats offspring. Lactating rats were separated into two groups: EW--dams were wrapped with a bandage to interrupt the lactation in the last 3 d of lactation; control--dams whose pups had free access to milk during all lactation (21 d). Data were significant at P < 0·05. At weaning, EW pups presented lower body weight (-10%), length (-4%), visceral fat (-40%), total fat (-30%), serum leptin (-73%), glycaemia (-10%), serum insulin (-20%) and insulin resistance index (IRI; -30 %), but higher total body protein content (+40%). At 180 d, EW offspring showed hyperphagia, higher length (+3%), body weight (+8%), visceral and total fat (+36 and 84%), serum TAG (+96%), glycaemia (+15%), leptinaemia (+185%) and IRI (+29%); however, they showed lower total protein content (-23%), leptin:body fat ratio (41%), prolactinaemia (-38%) and adiponectinaemia (-59%). Despite unchanged leptin receptor (OB-R) and signal transducer and activator of transcription 3 (STAT3), they displayed lower hypothalamic janus tyrosine kinase 2, phosphorylated STAT3 and a higher suppressor of cytokine signalling 3 levels, suggesting a central leptin resistance. Adult rats that were early weaned displayed higher adiposity, insulin resistance and dyslipidaemia, which are related to metabolic syndrome development. Our model reinforces the idea that neonatal malnutrition caused by shortening of the lactation period is important for metabolic programming of future diseases. PMID:21272398

Lima, Natália da Silva; de Moura, Egberto Gaspar; Passos, Magna Cottini Fonseca; Nogueira Neto, Firmino José; Reis, Adelina Martha; de Oliveira, Elaine; Lisboa, Patricia Cristina

2011-01-28

83

Toxic Shock Syndrome  

MedlinePLUS

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

84

284 Persistence of Nasal and Bronchial Symptoms in Patients with Samter's Syndrome with Treatment Medical and Surgical in a 2 Year Period  

PubMed Central

Background Know the causes of nasal and bronchial symptoms persistence in patients with Samter's syndrome under treatment in a period of time. Methods Cohort study. Inclusion criteria: Patients with asthma diagnoses, hypersensitivity to aspirin and nasal polyps. Exclusion criteria: Other kind of asthma, COPD. Twelve patients were followed from June 2009 to June 2011. Nasal and bronchial symptoms were assessed every 6 months using the Visual Analogue Scale of severity (VAS) from EPOS guidelines and spirometry from GINA. All were treated with intranasal mometasone furoate 200 mcg at day, montelukast 10 mg at day, salmeterol plus fluticasone 50/100 powder 2 inhalation every 12 hours, fluticasone spray 150 mg every 12 hours, loratadine tablet 10 mg if was necessary, with modifications of doses every 3 months. Patients diagnosed at 6 months with sinusitis and nasal polyposis were administered amoxicillin plus clavulanate 1.5 g daily for 5 weeks. The patients without response at 6 and 18 months were prescribed clarithromycin 400 mg daily for 4 weeks. All patients underwent CT of the sinuses through the Lund-Mackay system, chest CT scan, skin prick test. Evaluated by otolaryngology at the 6, 12, and 18 months. Results In the 98, 2% had negative skin prick tests. At 6 months, 58.3% had nasal symptoms with VAS <7. At 33.3% reported bronchial relapses with FEV1 <80. At year nasal symptoms increased, with WAS> 7 in 66.6%. The bronchial relapse decreased to 16.6%. At year and a half it increased nasal symptoms in 75% of patients, with VAS> 7. At 41.6% had obstruction of 100% and pansinusitis. They needed antibiotic scheme. At 2 years in 83.3% had a VAS>7. At 58.3% had pansinusitis. The bronchial relapse did not increase. We determined the presence of VAS> 7 and pansinusitis (OR = 4). The bronchial relapse did not influence with increasing VAS (OR = 1). Conclusions Nasal symptoms persistent were secondary to the nasal polyps and pansinusitis with higher levels of VAS. It was determinated a 4-fold risk over pansinusitis with a VAS> 7 (OR = 4). It should be stressed the palliative surgical treatment in earlier stages and desensitization protocols.

Azuara Trujillo, Hugo Alberto; Velez Martinez, Jose Ruben

2012-01-01

85

[Comparative dynamics of the epileptic syndrome in patients with open and closed war-time head injuries in the late period].  

PubMed

The dynamics of the epileptic syndrome was studied in 55 patients with penetrating cranial wound and in 65 patients with closed cranial injury. Account was taken of the anamnesis, all-round clinical examination data, EEG and computer-aided tomography readings. The patients had been followed up over 40 years. Among the patients with fighting cranial injury, the incidence of the epileptic syndrome amounted to 14.01%. The epileptic syndrome was established to occur most frequently during the first year after injury, with that time (in patients with penetrating cranial wound) being the less the graver injury and longer consciousness loss. At the same time the later was the onset of epileptic attacks in patients with closed cranial injury the rarer was their incidence and more pronounced were mental disorders. In patients with penetrating cranial wound, focal and secondary-generalized attacks dominated in the structure of the epileptic syndrome, whereas in patients with closed cranial injury, convulsions and psychomotor fits ranked the first. With age the rate of epileptic attacks declined along with reduction and disappearance of epileptic activity on the EEG, augmentation of mental disorders and atrophy of substantia medullaris. PMID:2171278

Nadezhdina, M V

1990-01-01

86

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.  

PubMed

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 of chronic administration of SGS-111 to adult Ts65Dn mice to reverse the cognitive deficit found in these mice. Moreover, since oxidative stress has been reported as early as the fetal stage, SGS-111 was also administered to pregnant Ts65Dn females from the day of conception throughout the pregnancy and to Ts65Dn pups during their entire life (5 months), from birth to the end of the behavioral testing period. A characterization of the effects of SGS-111 treatment on Ts65Dn and control mice sensorimotor abilities, motor coordination, spontaneous activity, activity in the open field, exploration, anxiety and spatial and non-spatial short- and long-term learning and memory was performed. The behavioral characterization showed that chronic administration of the antioxidant SGS-111 reduced the hyperactivity shown by Ts65Dn mice in their home cage, in the open field and in the hole board test. SGS-111 administration during adulthood improved performance in the first session in the Morris water maze in control mice, and when administered during the pre- and post-natal periods, improved spatial learning in the control mice but not in Ts65Dn mice. Chronic SGS-111 administration failed to affect behavior and cognition in Ts65Dn mice. PMID:18178265

Rueda, Noemí; Flórez, Jesús; Martínez-Cué, Carmen

2007-12-03

87

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

PubMed

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

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

2012-03-23

88

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

PubMed Central

Introduction Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome (NOMID/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1? (IL-1?) release. CAPS is a rare hereditary auto-inflammatory disease, which may start early in childhood and requires a life-long treatment. Canakinumab, a fully human anti-IL-1? antibody, produces sustained selective inhibition of IL-1?. This study was conducted to assess the efficacy, safety, and pharmacokinetics of canakinumab in the treatment of pediatric CAPS patients. Methods Seven pediatric patients (five children and two adolescents) with CAPS were enrolled in a phase II, open-label study of canakinumab in patients with CAPS. Canakinumab was administered at a dose of 2 mg/kg subcutaneously (s.c.) (for patients with body weight ? 40 kg) or 150 mg s.c. (for patients with body weight > 40 kg) with re-dosing upon each relapse. The primary efficacy variable was time to relapse following achievement of a complete response (defined as a global assessment of no or minimal disease activity and no or minimal rash and values for serum C-reactive protein (CRP) and/or serum amyloid A (SAA) within the normal range, < 10 mg/L). Results All patients achieved a complete response within seven days after the first dose of canakinumab and responses were reinduced on retreatment following relapse. Improvements in symptoms were evident within 24 hours after the first dose, according to physician assessments. The estimated median time to relapse was 49 days (95% CI 29 to 68) in children who received a dose of 2 mg/kg. Canakinumab was well tolerated. One serious adverse event, vertigo, was reported, but resolved during treatment. Conclusions Canakinumab, 2 mg/kg or 150 mg s.c., induced rapid and sustained clinical and biochemical responses in pediatric patients with CAPS. Trial registration number ClinicalTrials.gov: NCT00487708

2011-01-01

89

Neonatal Marfan Syndrome — A Case Report  

Microsoft Academic Search

Neonatal Marfan syndrome is a rare congenital abnormality with atypical features of Marfan syndrome at an early stage. Although, neonatal Marfan syndrome is part of Marfan syndrome, its higher morbidity and mortality rate within young children period are different from those of classic Marfan syndrome noted in older patients. Several diversities of family history, cardiovascular system and cause of death

Hsien-Yu Shih; Wan-Shiung Liu; Te-Jen Chen

90

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

PubMed Central

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

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

2012-01-01

91

Functional Genomic Analysis of NF1-Associated Learning Disabilities.  

National Technical Information Service (NTIS)

Learning disabilities severely deteriorate the life of many NF1 patients. However, the pathogenic process for NF1-associated learning disabilities has not been fully understood and an effective therapy is not available. This study was proposed to identify...

S. Tang

2008-01-01

92

Functional Genomic Analysis of NF1-Associated Learning Disabilities.  

National Technical Information Service (NTIS)

Learning disabilities severely deteriorate the life of many NF1 patients. However, the pathogenic process for NF1-associated learning disabilities has not been fully understood and an effective therapy is not available. This study was proposed to identify...

S. Tang

2007-01-01

93

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.

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.

2011-01-01

94

[Autoinflammatory syndromes].  

PubMed

Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis. PMID:20711090

Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

95

Scheie syndrome  

MedlinePLUS

... also: MPS I H (Hurler syndrome) MPS II, Hunter syndrome MPS IV Morquio syndrome MPS III (Sanfilippo ... syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive ...

96

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

2008-01-01

97

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

2004-01-01

98

Premenstrual syndrome  

PubMed Central

Introduction Premenstrual symptoms occur in 95% of women of reproductive age. Severe, debilitating symptoms (PMS) occur in about 5% of those women. There is no consensus on how symptom severity should be assessed, which has led to a wide variety of symptoms scales, making it difficult to synthesise data on treatment efficacy. The cyclical nature of the condition also makes it difficult to conduct RCTs. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of drug treatments in women with premenstrual syndrome? What are the effects of hormonal treatments in women with premenstrual syndrome? What are the effects of psychological interventions in women with premenstrual syndrome? What are the effects of physical therapy in women with premenstrual syndrome? What are the effects of dietary supplements in women with premenstrual syndrome? What are the effects of surgical treatments in women with premenstrual syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to July 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 56 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: acupuncture; alprazolam; bright light therapy; buspirone; chiropractic manipulation; clomipramine; cognitive behavioural therapy (CBT); danazol; endometrial ablation; evening primrose oil; exercise; gonadorelin analogues; hysterectomy; laparoscopic bilateral oophorectomy; magnesium supplements; metolazone; non-steroidal anti-inflammatory drugs (NSAIDs); oestrogens; oral contraceptives; progesterone; progestogens; pyridoxine; reflexology; relaxation; selective serotonin reuptake inhibitors (SSRIs); spironolactone; and tibolone.

2009-01-01

99

Le syndrome des grosses mains  

Microsoft Academic Search

Puffy hand syndrome is an unrecognized complication of intravenous drug abuse. This painless syndrome appears during or after a long period of drug addiction. It involves the hands and sometimes the forearms, and may cause functional, aesthetic and social disturbances when the hand volume is important. Physiopathological mechanisms of the puffy hand syndrome are unclear and include venous and lymphatic

M. Arrault; F. Gaouar; S. Vignes

2009-01-01

100

Period Cramps  

MedlinePLUS

... ago. She's learned to handle using pads and tampons, but the cramps are really bothering her. Sometimes ... THIS TOPIC Do Periods Ever End? Pads and Tampons How Do Pain Relievers Work? Five Things Girls ...

101

Periodic Pegboard  

NSDL National Science Digital Library

In this activity, learners use pegboard and straws to build a three-dimensional model of the periodic table. This model helps learners visualize trends in the chemical properties of the elements, including electronegativity, ionization energy, atomic radii, and mass.

Johnsen, Jill

2006-01-01

102

Guillain-Barre Syndrome  

MedlinePLUS

Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

103

Beckwith-Wiedemann syndrome  

MedlinePLUS

... associated with a defect in chromosome number 11. Infancy can be a critical period because of low ... Children with Beckwith-Wiedemann syndrome who survive infancy do ... appears to be normal to very slightly decreased. Swelling of ...

104

Immunophenotypic predictive profiling of BRCA1-associated breast cancer  

PubMed Central

The immunophenotypic predictive profile of BRCA1-associated cancers including major predictive markers, i.e., PARP-1, EGFR, c-kit, HER-2, and steroid hormones (ER/PR) that may have therapeutic relevance has not yet been reported in a comprehensive study. Using immunohistochemistry, we examined the expression of these proteins in a large cohort of BRCA1-associated breast cancers. PARP-1 immunoreactivity was found in 81.9%, EGFR in 43.6%, ER/PR in 17.9%, c-kit in 14.7%, and overexpression of HER-2 in 3.6% of cancers. For all markers studied, 8.2% of tumors were negative. Expression of only one predictive marker was found in 29.7% of cancers, and most frequently, it was PARP-1 (20.8%). In 62.1% of tumors, more than one predictive marker was expressed: PARP-1 and EGFR in 30.4%, PARP-1, and hormone receptors in 13.3% and PARP-1 with c-kit in 7.5% of all tumors. Coexpression of two or more other predictive markers was rare. There were significant differences in the median age at diagnosis of BRCA1-associated cancer between patients with ER+ vs. ER? and grades 1–2 vs. grade 3 tumors. These results demonstrate that BRCA1-associated cancers differ with respect to expression of proteins that are regarded as targets for specific therapies and that 92% of patients with BRCA1-associated cancers may benefit from one or several options for specific therapy (in addition to DNA damaging agents, e.g., cisplatin). About 8% of cancers which do not express therapeutic target proteins may not respond to such therapies. Knowledge of the immunophenotypic predictive profile may help with the recruitment of patients for trials of targeted therapies.

Domagala, Pawel; Huzarski, Tomasz; Lubinski, Jan; Gugala, Karol

2010-01-01

105

[Puffy hand syndrome].  

PubMed

Puffy hand syndrome is an unrecognized complication of intravenous drug abuse. This painless syndrome appears during or after a long period of drug addiction. It involves the hands and sometimes the forearms, and may cause functional, aesthetic and social disturbances when the hand volume is important. Physiopathological mechanisms of the puffy hand syndrome are unclear and include venous and lymphatic insufficiencies, infectious complications and direct toxicity of injected drugs and their adulterants. Low-stretch bandage and elastic garment, usually used in lymphedema treatment, are proposed to treat the puffy hand syndrome. PMID:19216010

Arrault, M; Gaouar, F; Vignes, S

2009-02-11

106

The Treatment of Restless Legs Syndrome and Periodic Limb Movement Disorder in Adults--An Update for 2012: Practice Parameters with an Evidence-Based Systematic Review and Meta-Analyses  

PubMed Central

A systematic literature review and meta-analyses (where appropriate) were performed to update the previous AASM practice parameters on the treatments, both dopaminergic and other, of RLS and PLMD. A considerable amount of literature has been published since these previous reviews were performed, necessitating an update of the corresponding practice parameters. Therapies with a STANDARD level of recommendation include pramipexole and ropinirole. Therapies with a GUIDELINE level of recommendation include levodopa with dopa decarboxylase inhibitor, opioids, gabapentin enacarbil, and cabergoline (which has additional caveats for use). Therapies with an OPTION level of recommendation include carbamazepine, gabapentin, pregabalin, clonidine, and for patients with low ferritin levels, iron supplementation. The committee recommends a STANDARD AGAINST the use of pergolide because of the risks of heart valve damage. Therapies for RLS secondary to ESRD, neuropathy, and superficial venous insufficiency are discussed. Lastly, therapies for PLMD are reviewed. However, it should be mentioned that because PLMD therapy typically mimics RLS therapy, the primary focus of this review is therapy for idiopathic RLS. Citation: Aurora RN; Kristo DA; Bista SR; Rowley JA: Zak RS; Casey KR; Lamm CI; Tracy SL; Rosenberg RS. The treatment of restless legs syndrome and periodic limb movement disorder in adults—an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses. SLEEP 2012;35(8):1039-1062.

Aurora, R. Nisha; Kristo, David A.; Bista, Sabin R.; Rowley, James A.; Zak, Rochelle S.; Casey, Kenneth R.; Lamm, Carin I.; Tracy, Sharon L.; Rosenberg, Richard S.

2012-01-01

107

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study  

PubMed Central

In this retrospective collaborative study, we have analyzed long-term outcome and donor cell engraftment in 194 patients with Wiskott-Aldrich syndrome (WAS) who have been treated by hematopoietic cell transplantation (HCT) in the period 1980- 2009. Overall survival was 84.0% and was even higher (89.1% 5-year survival) for those who received HCT since the year 2000, reflecting recent improvement of outcome after transplantation from mismatched family donors and for patients who received HCT from an unrelated donor at older than 5 years. Patients who went to transplantation in better clinical conditions had a lower rate of post-HCT complications. Retrospective analysis of lineage-specific donor cell engraftment showed that stable full donor chimerism was attained by 72.3% of the patients who survived for at least 1 year after HCT. Mixed chimerism was associated with an increased risk of incomplete reconstitution of lymphocyte count and post-HCT autoimmunity, and myeloid donor cell chimerism < 50% was associated with persistent thrombocytopenia. These observations indicate continuous improvement of outcome after HCT for WAS and may have important implications for the development of novel protocols aiming to obtain full correction of the disease and reduce post-HCT complications.

Moratto, Daniele; Giliani, Silvia; Bonfim, Carmem; Mazzolari, Evelina; Fischer, Alain; Ochs, Hans D.; Cant, Andrew J.; Thrasher, Adrian J.; Cowan, Morton J.; Albert, Michael H.; Small, Trudy; Pai, Sung-Yun; Haddad, Elie; Lisa, Antonella; Hambleton, Sophie; Slatter, Mary; Cavazzana-Calvo, Marina; Mahlaoui, Nizar; Picard, Capucine; Torgerson, Troy R.; Burroughs, Lauri; Koliski, Adriana; Neto, Jose Zanis; Porta, Fulvio; Qasim, Waseem; Veys, Paul; Kavanau, Kristina; Honig, Manfred; Schulz, Ansgar; Friedrich, Wilhelm

2011-01-01

108

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

PubMed

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

2012-12-05

109

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

PubMed Central

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.

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.

2013-01-01

110

[Schnitzler's syndrome].  

PubMed

Schnitzler syndrome (SS) is a rare clinical entity, which belongs to the spectrum of monoclonal gammapathy-associated systemic disorders. Its pathophysiology remains elusive, even if it is tempting to consider it as a late onset and probably acquired auto-inflammatory syndrome. SS mainly occurs in the fifth and sixth decade, and present with an urticariform rash with periodic fever and/or osteoarticular pain. Systemic inflammation and monoclonal gammapathy (overwhelmingly IgM kappa) are constant features. SS is a chronic disease, which can severely impair quality of life of the affected individuals. Many drugs have been used and proved disappointing. In the last few years, accumulating reports provided evidence for the dramatic efficacy of anakinra, which has revolutionized the management of most severe cases. The main long-term threat to these patients is to develop a lymphoproliferative disorder (mainly Waldenström's macroglobulinemia). The mechanisms underlying the different facets of the disease remain to be elucidated. PMID:23357692

Henry, B; Néel, A; Barbarot, S; Masseau, A; Hamidou, M

2013-01-26

111

Evolutionary Pathways in BRCA1-Associated Breast Tumors  

PubMed Central

BRCA1-associated breast tumors display loss of BRCA1 and frequent somatic mutations of PTEN and TP53. Here we describe the analysis of BRCA1, PTEN, and p53 at the single cell level in 55 BRCA1-associated breast tumors and computational methods to predict the relative temporal order of somatic events, on the basis of the frequency of cells with single or combined alterations. Although there is no obligatory order of events, we found that loss of PTEN is the most common first event and is associated with basal-like subtype, whereas in the majority of luminal tumors, mutation of TP53 occurs first and mutant PIK3CA is rarely detected. We also observed intratumor heterogeneity for the loss of wild-type BRCA1 and increased cell proliferation and centrosome amplification in the normal breast epithelium of BRCA1 mutation carriers. Our results have important implications for the design of chemopreventive and therapeutic interventions in this high-risk patient population. SIGNIFICANCE Defining the temporal order of tumor-driving somatic events is critical for early detection, risk stratification, and the design of chemopreventive therapies. Our combined experimental and computational approach reveal that the loss of wild-type BRCA1 may not be the first event in the majority of BRCA1-associated breast tumors and may not be present in all cancer cells within tumors.

Martins, Filipe C.; De, Subhajyoti; Almendro, Vanessa; Gonen, Mithat; Park, So Yeon; Blum, Joanne L.; Herlihy, William; Ethington, Gabrielle; Schnitt, Stuart J.; Tung, Nadine; Garber, Judy E.; Fetten, Katharina; Michor, Franziska; Polyak, Kornelia

2013-01-01

112

Reye syndrome.  

PubMed

Reye syndrome has emerged as the quintessential example of an acute metabolic encephalopathy. The clinical presentation is quite stereotyped in most instances permitting rapid, accurate diagnosis and early therapeutic intervention. Intoxications and certain inborn metabolic errors may mimic Reye syndrome. All patients with a recurrent episode should be investigated thoroughly for evidence of a metabolic disorder associated with an enzyme deficiency. Notable in this regard are inborn errors affecting organic acid, ammonia, and carbohydrate metabolism. The mitochondrial disturbance in Reye syndrome is well documented but the pathophysiologic sequence linking the antecedent viral illness to the mitochondrial injury remains obscure. Recent identification of a spontaneous Reye-like illness in mice that is associated with a coronavirus infection may provide an opportunity to investigate this initial phase of the pathophysiologic sequence. The primary cerebral insult presumably derives from insufficient substrate availability and results in massive cytotoxic cerebral edema. Treatment revolves around the continuous infusion of hypertonic glucose and intermittent infusion of hypertonic mannitol. Management is designed to attenuate or avoid the various compounding metabolic insults during this critical period when the child is metabolically crippled. In 1963, the disorder was considered to be rare and almost irreversibly fatal. Today, the disorder is recognized to be more common, and the outcome is very satisfactory in 85 to 90 per cent of the cases. The role of aspirin remains very controversial. A number of studies suggest an association between this potential mitochondrial toxin and Reye syndrome, but a causal relationship has not been established. Until better understood, it seems advisable to avoid use of aspirin in children exhibiting symptoms suggestive of Reye syndrome. PMID:3887130

De Vivo, D C

1985-02-01

113

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

2013-03-01

114

Sotos syndrome.  

PubMed

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

Baujat, Geneviève; Cormier-Daire, Valérie

2007-09-07

115

Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study  

PubMed Central

Abstract Introduction To assess the effect of canakinumab, a fully human anti-interleukin-1? antibody, on symptoms and health-related quality of life (HRQoL) in patients with cryopyrin-associated periodic syndrome (CAPS). Methods In this 48-week, phase 3 study, patients with CAPS received canakinumab 150 mg subcutaneously at 8-week intervals. All patients (n = 35) received canakinumab during weeks 1 through 8; weeks 9 through 24 constituted a double-blind placebo-controlled withdrawal phase, and weeks 24 through 48 constituted an open-label phase in which all patients received canakinumab. Patient and physician assessments of symptoms, levels of inflammatory markers, and HRQoL were performed. Results Rapid symptom remission was achieved, with 89% of patients having no or minimal disease activity on day 8. Responses were sustained in patients receiving 8-weekly canakinumab. Responses were lost during the placebo-controlled phase in the placebo group and were regained on resuming canakinumab therapy in the open-label phase. Clinical responses were accompanied by decreases in serum levels of C-reactive protein, serum amyloid A protein, and interleukin-6. HRQoL scores at baseline were considerably below those of the general population. Improvements in all 36-item Short-Form Health Survey (SF-36) domain scores were evident by day 8. Scores approached or exceeded those of the general U.S. population by week 8 and remained stable during canakinumab therapy. Improvements in bodily pain and role-physical were particularly marked, increasing by more than 25 points from baseline to week 8. Therapy was generally well tolerated. Conclusions Canakinumab, 150 mg, 8-weekly, induced rapid and sustained remission of symptoms in patients with CAPS, accompanied by substantial improvements in HRQoL. Trial registration Clintrials.gov NCT00465985

2011-01-01

116

Phosphorylation regulates TRPV1 association with ?-arrestin-2.  

PubMed

Post-translational modifications in TRPV1 (transient receptor potential vanilloid 1) play a critical role in channel activity. Phosphorylation of serine/threonine residues within the N- and C-termini of TRPV1 are implicated in receptor sensitization and activation. Conversely, TRPV1 desensitization occurs via a calcium-dependent mechanism and leads to receptor de-phosphorylation. Importantly, we recently demonstrated that TRPV1 association with ?-arrestin-2 is critical to receptor desensitization via its ability to scaffold the phosphodiesterase PDE4D5 to the receptor, regulating TRPV1 phosphorylation. In the present study, we demonstrate that phosphorylation of TRPV1 and ?-arrestin-2 regulates this association at the membrane. Under serum-free media conditions, we observed a significant decrease in TRPV1 and ?-arrestin-2 association in transfected CHO (Chinese-hamster ovary) cells. Pharmacological activation of the kinases PKA (protein kinase A) and PKC (protein kinase C) led to a robust increase in TRPV1 and ?-arrestin-2 association, whereas inhibition of PKA and PKC decreased association. Previously, we identified potential PKA residues (Ser(116), Thr(370)) in the N-terminus of TRPV1 modulated by ?-arrestin-2. In the present study we reveal that the phosphorylation status of Thr(370) dictates the ?-arrestin-2 and TRPV1 association. Furthermore, we demonstrate that CK2 (casein kinase 2)-mediated phosphorylation of ?-arrestin-2 at Thr(382) is critical for its association with TRPV1. Taken together, the findings of the present study suggest that phosphorylation controls the association of TRPV1 with ?-arrestin-2. PMID:23360390

Por, Elaine D; Gomez, Ruben; Akopian, Armen N; Jeske, Nathaniel A

2013-04-01

117

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.

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

2009-01-01

118

Craniofacial Syndrome Descriptions  

MedlinePLUS

... thumbs and occasional absence of the radial limb. Pfeiffer syndrome Pierre Robin Sequence Saethre-Chotzen Saethre-Chotzen ... syndrome • Moebius syndrome • Nager syndrome • Pierre Robin Sequence • Pfeiffer syndrome • Saethre-Chotzen syndrome • Treacher Collins syndrome Children's ...

119

Pendred Syndrome  

MedlinePLUS

... Pendred syndrome never develop a goiter. Top How common is Pendred syndrome? The SLC26A4 gene, which causes Pendred syndrome, accounts for about five to ten percent of hereditary hearing loss. As researchers gain more knowledge about the syndrome and its features, they hope ...

120

Alagille syndrome  

Microsoft Academic Search

Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile

I D Krantz; D A Piccoli; N B Spinner

1997-01-01

121

MR imaging of Joubert's syndrome  

Microsoft Academic Search

Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs), and describes MR imaging findings in seven of

R. Nuri Sener

1995-01-01

122

Coexistent Felty's syndrome and palindromic rheumatism  

Microsoft Academic Search

Palindromic rheumatism is a syndrome of intermittent abrupt onset monoarthritis with asymptomatic intercritical periods of variable duration, which commonly evolves into rheumatoid arthritis. Felty's syndrome consists of leucopenia (selective neutropenia) and splenomegaly, usually occurring in longstanding classic rheumatoid arthritis. Felty's syndrome can be confused with the more recently recognised rheumatoid arthritis associated large granular lymphocyte proliferative disease. This paper describes

R E Alvillar; L OGrady; D Robbins

1991-01-01

123

Goldenhar's syndrome.  

PubMed

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

1978-02-01

124

Caveolin-1 associated adenovirus entry into human corneal cells.  

PubMed

The cellular entry of viruses represents a critical area of study, not only for viral tropism, but also because viral entry dictates the nature of the immune response elicited upon infection. Epidemic keratoconjunctivitis (EKC), caused by viruses within human adenovirus species D (HAdV-D), is a severe, ocular surface infection associated with corneal inflammation. Clathrin-mediated endocytosis has previously been shown to play a critical role in entry of other HAdV species into many host cell types. However, HAdV-D endocytosis into corneal cells has not been extensively studied. Herein, we show an essential role for cholesterol rich, lipid raft microdomains and caveolin-1, in the entry of HAdV-D37 into primary human corneal fibroblasts. Cholesterol depletion using methyl-?-cyclodextrin (M?CD) profoundly reduced viral infection. When replenished with soluble cholesterol, the effect of M?CD was reversed, allowing productive viral infection. HAdV-D37 DNA was identified in caveolin-1 rich endosomal fractions after infection. Src kinase activity was also increased in caveolin-1 rich endosomal fractions after infection, and Src phosphorylation and CXCL1 induction were both decreased in caveolin-1-/- mice corneas compared to wild type mice. siRNA knock down of caveolin-1 in corneal cells reduced chemokine induction upon viral infection, and caveolin-1-/- mouse corneas showed reduced cellular entry of HAdV-D37. As a control, HAdV-C2, a non-corneal pathogen, appeared to utilize the caveolar pathway for entry into A549 cells, but failed to infect corneal cells entirely, indicating virus and cell specific tropism. Immuno-electron microscopy confirmed the presence of caveolin-1 in HAdV-D37-containing vesicles during the earliest stages of viral entry. Collectively, these experiments indicate for the first time that HAdV-D37 uses a lipid raft mediated caveolin-1 associated pathway for entry into corneal cells, and connects the processes of viral entry with downstream proinflammatory cell signaling. PMID:24147000

Yousuf, Mohammad A; Zhou, Xiaohong; Mukherjee, Santanu; Chintakuntlawar, Ashish V; Lee, Jeong Yoon; Ramke, Mirja; Chodosh, James; Rajaiya, Jaya

2013-10-11

125

Caveolin-1 Associated Adenovirus Entry into Human Corneal Cells  

PubMed Central

The cellular entry of viruses represents a critical area of study, not only for viral tropism, but also because viral entry dictates the nature of the immune response elicited upon infection. Epidemic keratoconjunctivitis (EKC), caused by viruses within human adenovirus species D (HAdV-D), is a severe, ocular surface infection associated with corneal inflammation. Clathrin-mediated endocytosis has previously been shown to play a critical role in entry of other HAdV species into many host cell types. However, HAdV-D endocytosis into corneal cells has not been extensively studied. Herein, we show an essential role for cholesterol rich, lipid raft microdomains and caveolin-1, in the entry of HAdV-D37 into primary human corneal fibroblasts. Cholesterol depletion using methyl-?-cyclodextrin (M?CD) profoundly reduced viral infection. When replenished with soluble cholesterol, the effect of M?CD was reversed, allowing productive viral infection. HAdV-D37 DNA was identified in caveolin-1 rich endosomal fractions after infection. Src kinase activity was also increased in caveolin-1 rich endosomal fractions after infection, and Src phosphorylation and CXCL1 induction were both decreased in caveolin-1-/- mice corneas compared to wild type mice. siRNA knock down of caveolin-1 in corneal cells reduced chemokine induction upon viral infection, and caveolin-1-/- mouse corneas showed reduced cellular entry of HAdV-D37. As a control, HAdV-C2, a non-corneal pathogen, appeared to utilize the caveolar pathway for entry into A549 cells, but failed to infect corneal cells entirely, indicating virus and cell specific tropism. Immuno-electron microscopy confirmed the presence of caveolin-1 in HAdV-D37-containing vesicles during the earliest stages of viral entry. Collectively, these experiments indicate for the first time that HAdV-D37 uses a lipid raft mediated caveolin-1 associated pathway for entry into corneal cells, and connects the processes of viral entry with downstream proinflammatory cell signaling.

Mukherjee, Santanu; Chintakuntlawar, Ashish V.; Lee, Jeong Yoon; Ramke, Mirja; Chodosh, James; Rajaiya, Jaya

2013-01-01

126

Update: Toxic Shock Syndrome.  

ERIC Educational Resources Information Center

|School health professionals can help reduce the incidence of Toxic Shock Syndrome by suggesting that women not use tampons continuously during menses and that tampons should not be left in place for long periods of time. Tampons should be changed every few hours and used intermittently with pads. (JN)|

Price, James H.

1981-01-01

127

Moebius Syndrome  

MedlinePLUS

... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, characterized by loss and ...

128

Hurler syndrome  

MedlinePLUS

... called mucopolysaccharidoses, or MPS. See also: MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo ... For more information and support, contact one of the following ... Society for MPS and Related Diseases -- www.mpssociety.ca Society ...

129

Duane's syndrome.  

PubMed

Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development. PMID:10809934

Gutowski, N J

2000-03-01

130

Rett Syndrome  

MedlinePLUS

... in different stages of the disease over a lifetime. The NICHD has supported research on Rett syndrome ... Rett disorder RTT Medical or Scientific Names 1 Autism-dementia-ataxia-loss of purposeful hand use syndrome ...

131

Marfan Syndrome  

MedlinePLUS

... can cause many complications. Sometimes the complications are life threatening. Overview Marfan syndrome is a genetic disorder. ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ...

132

Asherman syndrome  

MedlinePLUS

Asherman syndrome is the formation of intrauterine adhesions (scar tissue), which typically develop after uterine surgery. ... Asherman syndrome is a rare condition. In most cases, it occurs in women who have had several dilatation ...

133

Fanconi syndrome  

MedlinePLUS

... Fanconi syndrome is unknown. Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as: Cystine (cystinosis) Fructose ( fructose ...

134

Turcot Syndrome  

MedlinePLUS

... with Turcot syndrome have multiple adenomatous colon polyps (polyps in the colon made up of cells that form mucous), an ... Turcot syndrome diagnosed? A person with multiple adenomatous colon polyps and/or colorectal cancer , along with either glioblastoma ...

135

Sotos Syndrome  

MedlinePLUS

NINDS Sotos Syndrome Information Page Synonym(s): Cerebral Gigantism Table of Contents (click to jump to sections) What is Sotos Syndrome? Is there any treatment? What is the prognosis? What research is ...

136

Angelman Syndrome  

MedlinePLUS

You are here: Home » Disorders A - Z » Angelman Syndrome » Skip secondary menu Home Disorders A - Z Angelman Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...

137

Troyer Syndrome  

MedlinePLUS

You are here: Home » Disorders A - Z » Troyer Syndrome » Skip secondary menu Home Disorders A - Z Troyer Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...

138

Piriformis Syndrome  

MedlinePLUS

You are here: Home » Disorders A - Z » Piriformis Syndrome » Skip secondary menu Home Disorders A - Z Piriformis Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...

139

Cowden syndrome.  

PubMed Central

Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas. Images

Hanssen, A M; Fryns, J P

1995-01-01

140

Klinefelter Syndrome  

MedlinePLUS

What is Klinefelter syndrome? Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra ... Y chromosome (XY) is male. Most males with Klinefelter syndrome, also called XXY males, have two X ...

141

[Mannequin syndrome].  

PubMed

Describe since the beginning of the fifties, the mannequin syndrome consists of anorexia, amenorrhea and swelling of the parotid glands. This variety of symptoms is usually found in young female patients who want to remain thin. In fact, this syndrome has been several times diagnosed in fashion models or airhostesses;hence the term "mannequin syndrome". PMID:3799184

Cosins, J M; Frederickx, Y; Yousif, A; Hamoir, M; Van den Eeckhaut, J

1986-01-01

142

Gardner's syndrome  

Microsoft Academic Search

In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1–7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to under-stand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is

Edwin W. Naylor; Emanuel Lebenthal

1980-01-01

143

Oculocerebrocutaneous Syndrome (Delleman Syndrome)  

Microsoft Academic Search

Oculocerebrocutaneous syndrome (OCCS) is a rare disease (OMIM # 164180) with only around 35 patients reported so far (Hunter 2008, Tambe et al. 2003) characterized by bilateral anophthalmia and orbital cysts, typical skin lesions consisting in skin appendages, focal dermal\\u000a hypoplasia\\/aplasia and punch-like defects, complex brain malformations (mostly of the Dandy-Walker type) associated to mental\\u000a retardation and seizures, and cleft

Ignacio Pascual-Castroviejo

144

Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'  

PubMed Central

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

Arora, Vipul; Kim, Usha R; Khazei, Hadi M

2009-01-01

145

Endogenous opioid abstinence syndrome.  

PubMed

Starting from the observation that an increase of stress analgesia is followed by a hyperalgesia period, with a series of symptoms characteristic of the exogenous opioid abstinence syndrome (EXOAS), the authors supposed also the possibility of the existence of an endogenous abstinence syndrome (ENOAS). In order to demonstrate the existence of this syndrome, they investigated at first the possibility of the appearance of an acute tolerance to opioids. Then they followed-up the course of behaviour during and after informational stress in untreated animals, in animals treated with naloxone, which--being an antagonist of opioids--can induce EXOAS in toxicomaniacs, and in animals treated with clonidine and propranolol, that are used in the treatment of EXOAS. Experimental researches have demonstrated the possibility of ENOAS occurrence, its aggravation by naloxone and its improvement with clonidine and propranolol. PMID:7582938

Cristea, A; Restian, A; V?duva, G

146

Neurobehavioral syndromes.  

PubMed

Dysfunction of higher cortical function and neurobehavioral syndromes may be present in up to 87% of stroke patients. These symptoms may occur less often in patients with transient ischemic attacks (36%). Approximately 22% of stroke patients may present only with cognitive and neurobehavioral symptoms without elementary neurological deficits. In this chapter we concentrate on delusions, hallucinations, misidentification syndromes, anosognosia of hemiplegia, aggressive behavior and also extended self syndrome. PMID:22377864

Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien

2012-02-14

147

Gorlin Syndrome  

PubMed Central

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

2013-01-01

148

Gorlin syndrome.  

PubMed

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

2013-05-01

149

Aicardi syndrome.  

PubMed

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

2012-07-01

150

Fisher Syndrome  

Microsoft Academic Search

Opinion statement  Fisher syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. It is considered a variant\\u000a form of Guillain-Barré syndrome, which is associated with anti-GQ1b antibodies. During initial examinations of patients, physicians\\u000a must rule out other neurologic disorders or conditions that resemble Fisher syndrome, such as vitamin B1 deficiency (Wernicke’s\\u000a encephalopathy), vascular disease, multiple sclerosis, collagen disease,

Masahiro Mori; Satoshi Kuwabara

2011-01-01

151

Turner Syndrome  

MedlinePLUS

... Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development

152

HIV1 and the brain: connections between HIV1-associated dementia, neuropathology and neuroimmunology  

Microsoft Academic Search

AIDS patients frequently exhibit neurological disorders due to the neurotoxic events that result from HIV-1 and\\/or opportunistic infections in the brain. This review examines recent clinical findings related to HIV-1-associated dementia, and outlines current areas of basic research that may clarify how HIV-1-associated encephalopathy produces clinical symptoms of brain dysfunction.

Diane M. Lawrence; Eugene O. Major

2002-01-01

153

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.

2007-11-30

154

Familial Periodic Paralyses  

MedlinePLUS

NINDS Familial Periodic Paralyses Information Page Synonym(s): Periodic Paralyses Table of Contents (click to jump to sections) What are Familial Periodic Paralyses? Is there any treatment? What is the prognosis? What research is ...

155

Congenital varicella syndrome.  

PubMed

The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall. PMID:12619963

Sasidharan, C K; Anoop, P

2003-01-01

156

[Cotard syndrome].  

PubMed

We describe a schizophrenic paranoid patient, who developed a unique clinical state that fits the Cotard syndrome. The article deals with the course of the disease, the clinical characteristics, the difficulties of treatment. The process of diagnosis and its difficulties, and the rareness of the symptoms are emphasized. Various etiological causes of the syndrome are discussed. PMID:8682373

Simovici, G; Bauer, A

1996-01-01

157

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 Ginès

2005-01-01

158

Cockayne's syndrome  

Microsoft Academic Search

The patient discussed is a seven year old boy with Cockayne's syndrome, deafness, retinal “salt and pepper”-like abnormalities, microcephaly, retarded growth and abnormal appearance, but normal intelligence. This suggests that mental retardation is not inevitably associated with Cockayne's syndrome.

M. Lanning; S. Similä

1970-01-01

159

Lemierre syndrome  

Microsoft Academic Search

Lemierre syndrome is a disease that presents with oropharyngeal infection, sepsis, internal jugular vein thrombosis, and septic emboli with the Gram-negative organism Fusobacterium necrophorum cultured as the etiologic agent. Clindamycin, metronidazole and ampicillin-sulbactam are effective antibiotic treatments, although the length of treatment has not been firmly established. The syndrome is seen less frequently in the current age of antibiotics. It

Milan D. Nadkarni; Julie Verchick; James C. O’Neill

2005-01-01

160

Proteus Syndrome  

Microsoft Academic Search

A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised. This syndrome was first described in 1983. The name Proteus comes from a Greek mythical sea god who was able to change his

Hiroshi Yasuda; Osamu Yamamoto; Hisatada Hirokawa; Masakazu Asahi; Masamichi Kashimura; Akinori Sakai

2001-01-01

161

Syndromic Craniosynostosis  

PubMed Central

Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.

Derderian, Christopher; Seaward, James

2012-01-01

162

Management of HIV-1 associated hepatitis in patients with acquired immunodeficiency syndrome: role of a successful control of viral replication.  

PubMed

In HIV-1 infected patients, increase of liver enzymes may be mainly due to viral coinfections, alcohol intake, hepatotoxic drugs or autoimmune diseases. Three cases of aminotransferase elevation occurred during a phase of uncontrolled viral replication combined with a severe immunodeficiency and resolved by an effective HAART are described, focusing on the etio-pathogenetic role possibly played by HIV-1 infection. PMID:21362160

Esposito, Antonella; Conti, Valentina; Cagliuso, Maria; Pastori, Daniele; Fantauzzi, Alessandra; Mezzaroma, Ivano

2011-03-01

163

Management of HIV-1 associated hepatitis in patients with acquired immunodeficiency syndrome: role of a successful control of viral replication  

PubMed Central

In HIV-1 infected patients, increase of liver enzymes may be mainly due to viral coinfections, alcohol intake, hepatotoxic drugs or autoimmune diseases. Three cases of aminotransferase elevation occurred during a phase of uncontrolled viral replication combined with a severe immunodeficiency and resolved by an effective HAART are described, focusing on the etio-pathogenetic role possibly played by HIV-1 infection.

2011-01-01

164

Down syndrome and recent demographic trends in Manitoba  

Microsoft Academic Search

Two hundred and thirty-three children born in Manitoba with Down syndrome between 1965 and 1974 were ascertained and the maternal ages obtained. Mean maternal age was found to have declined in this period both for all livebirths and to a greater extent for Down syndrome children. Though the proportion of mothers of Down syndrome infants with a maternal age of

J A Evans; A G Hunter; J L Hamerton

1978-01-01

165

Velocardiofacial syndrome.  

PubMed Central

Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6

Pike, A. C.; Super, M.

1997-01-01

166

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.

2011-01-01

167

Allgrove syndrome.  

PubMed

Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome. PMID:22584989

Kilicli, Fatih; Acibucu, Fettah; Senel, Soner; Dokmetas, Hatice Sebila

2012-05-01

168

Lemierre syndrome.  

PubMed

Lemierre syndrome is an uncommon disease which commonly arise from acute bacterial oropharyngeal infection. This disease was first described in 1900 by Courmont and Cade Lemierre. It is commonly caused by Fusobacterium necrophorum. Lemierre syndrome has been reported to be serious and potentially fatal in the preantibiotic era. It is characterized by an oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein with embolization to the lungs and other organs. The incidence has become relatively rare at present and is usually only diagnosed when unsuspected culture results are available. We report a case of Lemierre syndrome which was recently diagnosed in our centre. PMID:23082433

Lim, Ai Lee; Pua, Kin Choo

2012-06-01

169

Williams-Beuren's Syndrome: A Case Report  

PubMed Central

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.

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

2012-01-01

170

Thyroid function in Down syndrome.  

PubMed

The thyroid function of 181 patients with Down syndrome was investigated. When compared with a control group of 163 children we found T4 and FT4 levels to be significantly lower and T3 and TSH levels to be significantly higher in the Down syndrome population. Of the 181 patients with Down syndrome, 29 (16%) showed evidence of either uncompensated or compensated hypothyroidism: 11 (6%) had both low T4 and high TSH levels, 14 (8%) had only high TSH values, and 4 (2%) had only low T4 values. One of the patients with Down syndrome had a significantly elevated T4 level. Studying different age groups, we observed a decline of the mean T4, FT4, T3, FT3, and TBG values with advancing age. T4, T3, and TSH blood levels obtained in 1988 were slightly but not significantly lower when compared with values from 1985. Because thyroid dysfunctions in patients with Down syndrome are more common than in the general population, periodic thyroid hormone function tests should be performed in persons with Down syndrome in particular as they advance in age. Thus, individuals with significantly abnormal results can be identified early before clinical symptoms become manifest. If patients with Down syndrome are found to have a thyroid hormone disorder, appropriate treatment should be forthcoming, which in turn will enhance their quality of life. PMID:1838814

Pueschel, S M; Jackson, I M; Giesswein, P; Dean, M K; Pezzullo, J C

1991-01-01

171

Noonan syndrome  

MedlinePLUS

... about 25% of cases) Sagging eyelids ( ptosis ) Short stature Small penis Undescended testicles Unusual chest shape (usually ... hormone has been used successfully to treat short stature in some persons with Noonan syndrome.

172

Klinefelter syndrome  

MedlinePLUS

... syndrome is the presence of an extra X chromosome in a male. ... Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two sex chromosomes determine if you ...

173

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.

Stolinsky, David C.

1980-01-01

174

Caplan syndrome  

MedlinePLUS

... 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. ...

175

[Sandifer syndrome].  

PubMed

Authors report a Sandifer's Syndrome: dystonic postures as a pseudoneurologic symptoms, associated to disorders of the hiatus. Its consideration is of importance taking it into account in order to avoid diagnostic errors unnecesary investigations and wrong treatments. PMID:6712022

Gutiérrez Macías, A; Rodríguez Peñalver, M; Márquez Contreras, M C; Martínez Infante, J; Torralba Gascón, A; Rodríguez López, F

1984-02-15

176

Levator Syndrome  

MedlinePLUS

... 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 ...

177

Aicardi syndrome  

MedlinePLUS

... the two sides of the brain (called the corpus callosum ) is partly or completely missing. ... Aicardi syndrome if they meet the following criteria: Corpus callosum that is partly or completely missing Female sex ...

178

Asperger Syndrome  

MedlinePLUS

... 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 ...

179

Reye's Syndrome  

MedlinePLUS

... symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of ... which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically ...

180

Rett Syndrome  

MedlinePLUS

... problems Breathing problems Behavior problems Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with ...

181

Serotonin Syndrome  

MedlinePLUS

... 2008;33:29. Boyer EW, et al. Current concepts: The serotonin syndrome. The New England Journal of ... conditions of use policy (Updated July 13, 2013) LEGAL CONDITIONS AND TERMS OF USE APPLICABLE TO ALL ...

182

Sjogren's Syndrome  

MedlinePLUS

... to developing cavities if your mouth is dry. Yeast infections. People with Sjogren's syndrome are much more likely to develop oral thrush, a yeast infection in the mouth. Vision problems. Dry eyes ...

183

Tourette Syndrome  

MedlinePLUS

... hyperactivity disorder (ADHD) Obsessive-compulsive disorder (OCD) Anxiety Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. ...

184

Bartter syndrome  

MedlinePLUS

... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

185

Usher Syndrome  

MedlinePLUS

... of Usher syndrome: People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually start by age 10 and lead to blindness. People with type II have moderate to severe ...

186

Lemierre syndrome.  

PubMed

Lemierre's syndrome is an uncommon complication of pharyngitis in the United States and caused most commonly by the bacterium Fusobacterium necrophorum. The syndrome is characterized by a history of recent pharyngitis followed by ipsilateral internal jugular vein thrombosis and metastatic pulmonary abscesses and is a disease for which patients will seek medical care and advice. As most patients are admitted to the hospital under internal medicine, practitioners should be familiar with the usual signs and symptoms of Lemierre's syndrome along with its diagnosis and treatment. Controversy involves the choice and duration of antimicrobial therapy used for treatment and anticoagulation therapy for internal jugular vein thrombosis. As the diagnosis and management of this syndrome has generated controversy, an updated review of the literature and treatment recommendations may be helpful for providing optimal care for patients with this often unrecognized and confusing infection. PMID:22561543

Wright, William F; Shiner, Christine N; Ribes, Julie A

2012-05-01

187

Sheehan's Syndrome  

MedlinePLUS

... nations. But it's still a major threat to women in developing countries. For some women, Sheehan's syndrome seems ... hormone (LH). In men, LH regulates testosterone production. In women, it fosters production of estrogen. Follicle-stimulating hormone ( ...

188

Gardner Syndrome  

MedlinePLUS

... in many different organs, such as: Multiple adenomatous colon polyps. An adenomatous polyp is an area where the ... Gardner syndrome diagnosed? A person with multiple adenomatous colon polyps and/or colorectal cancer along with some of ...

189

Hyperventilation syndrome  

Microsoft Academic Search

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

Richard E. Brashear

1983-01-01

190

Noonan syndrome.  

PubMed

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2013-01-10

191

Lemierre's syndrome  

Microsoft Academic Search

.   Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents.\\u000a The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed\\u000a a jugular thrombosis 7 days after an angina. Fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved

J. Gong; J. Garcia

1999-01-01

192

Coexistent Felty's syndrome and palindromic rheumatism.  

PubMed

Palindromic rheumatism is a syndrome of intermittent abrupt onset monoarthritis with asymptomatic intercritical periods of variable duration, which commonly evolves into rheumatoid arthritis. Felty's syndrome consists of leucopenia (selective neutropenia) and splenomegaly, usually occurring in longstanding classic rheumatoid arthritis. Felty's syndrome can be confused with the more recently recognised rheumatoid arthritis associated large granular lymphocyte proliferative disease. This paper describes a patient with palindromic rheumatism presenting with Felty's syndrome in whom large granular lymphocyte proliferative disease was ruled out by lymphocyte phenotyping. PMID:1768169

Alvillar, R E; O'Grady, L; Robbins, D

1991-12-01

193

Cyclic Vomiting Syndrome Developed after Stroke  

PubMed Central

Cyclic vomiting syndrome is characterized by recurrent episodes of stereotyped vomiting separated by regular symptom-free periods. We describe a case of cyclic vomiting syndrome developed after stroke, which has not been reported to date. A 69-year-old woman experienced recurrent vomiting following left cerebral infarct. The patient's vomiting pattern was consistent with cyclic vomiting syndrome, and the diagnosis of cyclic vomiting syndrome was established by exclusion of other known disorders which could have resulted in vomiting. She was treated with imipramine hydrochloride and her symptom was well controlled.

Shin, Jung In

2012-01-01

194

[Sjogren's syndrome].  

PubMed

Sjogren's syndrome is a chronic inflammatory disease of unknown aethiology. It is characterized by decreased secretion of salivary and lacrimal glands, which induces keratoconjunctivitis sicca and xerostomia. Sjogren's syndrome is a central autoimmune disease, and it has characteristics of both organ-specific and generalized autoimmune diseases. It can exist as a primary disease or is associated with other autoimmune diseases (most freyuently with systemic lupus erythematosus or rheumatoid arthritis) and is classified as a secondary Sjogren's syndrome. The aethiology is multifactorial, and it has not yet been completely explained. In the pathogenesis of the disease the important role have genetic predisposition, chronic oestrogen stimulation, end viral infections, especially of the herpes virus group (EBV, CMV, HHV6) and retroviruses. In the clinical picture xerostomia, xerophtalmia and non-erosive arthritis are the most common features, with the whole spectrum of extraglandular manifestations of respiratory, gastrointestinal, skin, and haematologic, neurologic and endocrinologic disturbances. Pathohistological findings of minor labial salivary gland lymphocyte infiltration is the most specific and the most sensitive diagnostic criterion of Sjogren's syndrome. The diagnosis of keratoconjunctivitis sicca is made by Schrimer's test, Rose bengal dye staining and by the "tear break up time". Differential diagnosis of Sjogren's syndrome includes an extremely large number of various pathologic states. The treatment of Sjogren's syndrome consists of symptomatic treatment of dry mucosas (artificial tears, etc.) and also of antiinflammatory drugs, glucocorticoids, immunosuppressive drugs. Plasmapheresis and intravenous administration of immunoglobulins are used for immunosuppression in these patients. PMID:17974357

Raskovi?, S; Bogi?, M; Peri?-Popadi?, A; Tomi?-Spiri?, V

195

Pathogenesis of Human Immunodeficiency Virus Type-1 (HIV-1)-Associated Dementia: Role of Voltage-Gated Potassium Channels  

PubMed Central

HIV-1-associated dementia (HAD) describes the cognitive impairments and behavioral disturbances which afflict many HIV-infected individuals. Although the incidence of HAD has decreased significantly in the era of HAART, it remains a significant complication of HIV-1 infection as patients with acquired immune deficient syndrome (AIDS) live longer, antiretroviral drugs remain unable to effectively cross the blood-brain barrier (BBB), and HIV-1 resistance grows due to viral strain mutation. Although the precise mechanism leading to HAD is incompletely understood, it is commonly accepted its progression involves a critical mass of infected and activated mononuclear phagocytes (MP; brain perivascular macrophages and microglia) releasing immune and viral products in brain. These cellular and viral products induce neuronal dysfunction and injury via various signaling pathways. Emerging evidence indicates that voltage-gated potassium (Kv) channels, key regulators of cell excitability and animal behavior (learning and memory), are involved in the pathogenesis of HAD/HAND. Here we survey the literature and find HAD related alterations in cellular and viral products can alter MP and neuronal Kv channel activity, leading to MP and neuronal dysfunction and cognitive deficits. Thus, MP and neuronal Kv channels may be a new target in the effort to develop therapies for HAD and perhaps other inflammatory neurodegenerative disorders.

Keblesh, James P.; Reiner, Benjamin C.; Liu, Jianuo; Xiong, Huangui

2009-01-01

196

Period meter for reactors  

DOEpatents

An improved log N amplifier type nuclear reactor period meter with reduced probability for noise-induced scrams is provided. With the reactor at low power levels a sampling circuit is provided to determine the reactor period by measuring the finite change in the amplitude of the log N amplifier output signal for a predetermined time period, while at high power levels, differentiation of the log N amplifier output signal provides an additional measure of the reactor period.

Rusch, Gordon K. (Downers Grove, IL)

1976-01-06

197

Central Cord Syndrome  

MedlinePLUS

NINDS Central Cord Syndrome Information Page Synonym(s): Central Cervical Cord Syndrome Table of Contents (click to jump to sections) ... is being done? Clinical Trials Organizations What is Central Cord Syndrome? Central cord syndrome is the most ...

198

Central Pain Syndrome  

MedlinePLUS

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

199

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... for ENews Home > Lung Disease > Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome Hantavirus pulmonary syndrome (HPS) is a disease that comes ... may improve a person's chances of recovery. Understanding Hantavirus Pulmonary Syndrome Symptoms, Diagnosis and Treatment Preventing Hantavirus ...

200

Hyperimmunoglobulin E syndrome  

MedlinePLUS

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

201

Sexuality and Down Syndrome  

MedlinePLUS

... individuals with Down syndrome understand their bodies, their emotions, their behaviors and their relationships within their social ... Issues & Down Syndrome Dual Diagnosis of Down Syndrome & Autism Ear, Nose & Throat Issues & Down Syndrome Endocrine Conditions & ...

202

Neurobiology of chronic fatigue syndrome  

Microsoft Academic Search

1.1 Chronic fatigue syndrome (CFS) is characterized by a new onset of significant fatigue for a period of six months or longer usually following an infection, injury or period of high stress.2.2 The exact etiology of CFS is not known and a diagnostic test is not available. Hence, the diagnosis is made by exclusion of other explanations for the patient's

Michael B. Gonzalez; Jennifer C. Cousins; P. Murali Doraiswamy

1996-01-01

203

Trends in Fetal Alcohol Syndrome  

Microsoft Academic Search

A sixteen-fold decreased incidence of fetal alcohol syndrome (ICM- 9-CM code 760.71) was reported in the period 1985-1996 at the Albert Einstein College of Medicine affiliated hospitals. This result contrasts with the six-fold increased incidence in the period of 1979- 1993 reported by the Birth Defects Monitoring Program of the US Department of Health and Human Services. Factors which may

Jodi D. Hoffman; Alan Shanske

2003-01-01

204

Joubert syndrome: Report of a neonatal case  

PubMed Central

Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed.

Akcakus, Mustafa; Gunes, Tamer; Kumandas, Sefer; Kurtoglu, Selim; Coskun, Abdulhakim

2003-01-01

205

Pediatric Complex Regional Pain Syndrome  

Microsoft Academic Search

Complex regional pain syndrome (CRPS) is a relatively new diagnostic entity in pediatrics. There is debate as to what constitutes the most effective treatment for pediatric CRPS. This study presents the patient characteristics, clinical course, a~d treatment outcome of 20 children diagnosed with CRPS at a major children's hospital during a 4·year period. The results showed that pediatric CRPS occurs

Adrian K. Low; Kate Ward; Andrew P. Wines

206

Pharmacological Adjuncts for the Treatment of Withdrawal Syndromes  

Microsoft Academic Search

Alternative explanations for symptoms that occur during the period of drug (medical or nonmedical) withdrawal are examined. These symptoms are not necessarily due to the discontinuation of the drug and should be considered when treating a patient for a withdrawal syndrome. The rationale behind treating withdrawal syndromes and criteria to consider for hospitalizing a patient during the withdrawal period are

Karen Lea Sees

1991-01-01

207

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

2011-01-01

208

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

2011-01-01

209

[Marfan syndrome].  

PubMed

This review on Marfan syndrome is focused on the clinical heterogeneity and variability, the new diagnostic criteria as delineated by an expert group in 2010, the current knowledge on the molecular and pathogenetic etiology, and the options of the medical and surgical treament. Defined clinical findings, family history and mutations in the FBN1 gene only differentiate Marfan syndrome from the other aortic syndromes. The involvement of the cellular TGF-beta-signaling in pathogenesis allows new approach for medical treatment with ATR-blockers for which, however, evidence based indications are still lacking. Finally, a suggestion is made how to arrange the diagnostic workup, appropriate treatment and follow-up of the Marfan patients in the Finnish health care. PMID:22486066

Kaitila, Ilkka; Jokinen, Eero; Kokkonen, Jorma

2012-01-01

210

Antiphospholipid syndrome.  

PubMed

The antiphospholipid antibodies (aPL), namely, the lupus anticoagulant and the anticardiolipin antibodies, are a family of autoantibodies directed predominantly against negatively charged phospholipids. Many studies have confirmed that patients with these antibodies are prone to repeated episodes of thrombosis, fetal losses, and thrombocytopenia. The association of aPL with these clinical events has been termed the antiphospholipid syndrome. Several skin lesions have been found in patients with this syndrome, including livedo reticularis, livedoid vasculitis, thrombophlebitis, cutaneous infarctions and gangrene of digits, ulcerations, lesions resembling vasculitis (nodules, macules), cutaneous necrosis/infarctions, subungual splinter hemorrhages, and, less commonly, discoid lupus and Degos' disease (malignant atrophic papulosis). In this article, we review the main immunologic and clinical aspects of this syndrome with special emphasis on the dermatologic features. PMID:8423386

Asherson, R A; Cervera, R

1993-01-01

211

Cardiorenal syndromes  

PubMed Central

Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes.

McCullough, Peter A; Ahmad, Aftab

2011-01-01

212

SAPHO syndrome.  

PubMed

Palmoplantar pustulosis and severe acne are sometimes associated with peculiar aseptic skeletal conditions, but such skeletal lesions can be found without skin lesions. The term SAPHO syndrome has been coined for this cluster of manifestations. (The acronym SAPHO refers to synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis.) The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. Osteosclerosis of the vertebral bodies, hyperostosis, and erosions of the vertebral plates can be encountered. Unilateral sacroiliitis is frequently observed. Long bone involvement consists of osteosclerosis or osteolysis with periosteal new bone formation. Peripheral arthritis can be present but is rarely associated with joint destruction. The pathogenesis of this syndrome remains unknown, but a link with seronegative spondyloarthropathies is probable. Radiologists should be aware of this unusual syndrome to avoid misdiagnosis (eg, tumor, infection), unnecessary surgery, and antibiotic therapy. PMID:7501856

Cotten, A; Flipo, R M; Mentre, A; Delaporte, E; Duquesnoy, B; Chastanet, P

1995-09-01

213

[Scientific periodicals: quality criteria].  

PubMed

This paper presents a historical literature review on the evaluation of periodicals and the methodology employed for their evaluation. It emphasizes the attention that should be given to the contents of the periodicals and their format based on technical standards in order to reach a global quality of the publications. This paper includes a summary of the most important aspects of the technical standards for periodicals and scientific articles. PMID:12937744

Ferreira, Maria Cecilia Gonzaga; Krzyzanowski, Rosaly Favero

2003-08-14

214

Down's syndrome and early cataract  

PubMed Central

Aims To estimate the occurrence of early cataract among patients with Down's syndrome and to evaluate the clinical characteristics of the cases. Methods Cases with Down's syndrome were ascertained from a cohort of all Danish children between 0 and 17?years of age, who were diagnosed with cataract during the period 1977–2001 (n?=?1027). Information on the patients was obtained from the medical records. Results Of the total of 1027 cases with non?traumatic, non?acquired cataract there were 29 cases (13 males, 16 females) with Down's syndrome (2.8%). This corresponds to an occurrence of early cataract among patients with Down's syndrome of 1.4%; 27 had bilateral cataract and two had unilateral cataract. Half of the patients (n?=?14) underwent cataract surgery, of whom two had bilateral primary lens implantation. 10 patients had bilateral cataract observed soon after birth, and five of these underwent cataract surgery within the first 6?months of life. Conclusion The frequency of early cataract among children with Down's syndrome is estimated to be 1.4%, with cataracts requiring surgery during childhood being even rarer. In one third of the 29 cases, bilateral cataract was detected in the neonatal period.

Haargaard, B; Fledelius, H C

2006-01-01

215

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.

2011-01-05

216

[Chromosome instability syndromes].  

PubMed

Defects of DNA repair underlie genetic syndromes. Chromosomal aberrations and mutations might cause specific inborn defects. There are several syndromes with characteristic clinical features, which appear to be caused by chromosome instability which is a consequence of DNA repair defects. This article describe syndromes where hereditary mutations are the reason of chromosomal instability and cause serious clinical results: ataxia-telangiectasia, Nijmegen breakage syndrome, Bloom syndrome, Fanconi's anemia, ICF syndrome, Roberts syndrome, dominantly inherited--PCD, Werner syndrome, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy (TTD) and Rothmund-Thomson syndrome (RTS). PMID:16875167

Tomaszewska, Agnieszka; Srebniak, Ma?gorzata; Gny?, Agnieszka

2006-05-01

217

Premenstrual syndrome.  

PubMed

Premenstrual syndrome (PMS) affects the quality of life of millions of women. The complexity and variety of clinical presentation together with the cyclic recurrence of affective and somatic symptoms increase the difficulty in understanding and treating the disease. The precise pathophysiology of PMS is still unknown, but it is increasingly believed that, in women with PMS, the sensitive equilibrium between sex-steroids and central neurotransmitters is altered. Several studies have been carried out to understand the origin of the syndrome and to discover new ways of treatment. This review summarizes the most accepted PMS theories and treatments currently available based on the results of the best-designed trials. PMID:12032448

Gianetto-Berruti, A; Feyles, V

2002-04-01

218

Lemierre's syndrome.  

PubMed

Lemierre's syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre's syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder. PMID:19002548

O'Dwyer, D N; Ryan, S; O'Keefe, T; Lyons, J; Lavelle, L; McKone, E

2008-11-11

219

SAPHO syndrome.  

PubMed

SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms. PMID:23597971

Carneiro, Sueli; Sampaio-Barros, Percival D

2013-03-13

220

Genetics Home Reference: Cohen syndrome  

MedlinePLUS

... syndrome obesity-hypotonia syndrome Pepper syndrome prominent incisors-obesity-hypotonia syndrome For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming ...

221

Modeling the incubation period of inhalational anthrax.  

PubMed

Ever since the pioneering work of Philip Sartwell, the incubation period distribution for infectious diseases is most often modeled using a lognormal distribution. Theoretical models based on underlying disease mechanisms in the host are less well developed. This article modifies a theoretical model originally developed by Brookmeyer and others for the inhalational anthrax incubation period distribution in humans by using a more accurate distribution to represent the in vivo bacterial growth phase and by extending the model to represent the time from exposure to death, thereby allowing the model to be fit to nonhuman primate time-to-death data. The resulting incubation period distribution and the dose dependence of the median incubation period are in good agreement with human data from the 1979 accidental atmospheric anthrax release in Sverdlovsk, Russia, and limited nonhuman primate data. The median incubation period for the Sverdlovsk victims is 9.05 (95% confidence interval = 8.0-10.3) days, shorter than previous estimates, and it is predicted to drop to less than 2.5 days at doses above 10(6) spores. The incubation period distribution is important because the left tail determines the time at which clinical diagnosis or syndromic surveillance systems might first detect an anthrax outbreak based on early symptomatic cases, the entire distribution determines the efficacy of medical intervention-which is determined by the speed of the prophylaxis campaign relative to the incubation period-and the right tail of the distribution influences the recommended duration for antibiotic treatment. PMID:18556642

Wilkening, Dean A

2008-06-12

222

PEC: Period Error Calculator  

NASA Astrophysics Data System (ADS)

The PEC (Period Error Calculator) algorithm estimates the period error for eclipsing binaries observed by the Kepler Mission. The algorithm is based on propagation of error theory and assumes that observation of every light curve peak/minimum in a long time-series observation can be unambiguously identified. A simple C implementation of the PEC algorithm is available.

Mighell, Kenneth J.

2013-04-01

223

Retrospective Conversion of Periodicals  

Microsoft Academic Search

To participate in automated serials check-in systems or online catalogs, libraries must convert their manual periodicals records into machine-readable form. This article describes retrospective conversion, using OCLC and currently available staff and resources, of an uncataloged periodicals collection. Various phases of the conversion project, including planning, staffing, training, inventorying, editing procedures and updating, are discussed, as are problems encountered and

Rita Broadway; Jane Qualls

1988-01-01

224

Prescribing patterns in premenstrual syndrome.  

PubMed

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

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

2002-06-19

225

Wavelet periodicity detection algorithms  

NASA Astrophysics Data System (ADS)

This paper deals with the analysis of time series with respect to certain known periodicities. In particular, we shall present a fast method aimed at detecting periodic behavior inherent in noise data. The method is composed of three steps: (1) Non-noisy data are analyzed through spectral and wavelet methods to extract specific periodic patterns of interest. (2) Using these patterns, we construct an optimal piecewise constant wavelet designed to detect the underlying periodicities. (3) We introduce a fast discretized version of the continuous wavelet transform, as well as waveletgram averaging techniques, to detect occurrence and period of these periodicities. The algorithm is formulated to provide real time implementation. Our procedure is generally applicable to detect locally periodic components in signals s which can be modeled as s(t) equals A(t)F(h(t)) + N(t) for t in I, where F is a periodic signal, A is a non-negative slowly varying function, and h is strictly increasing with h' slowly varying, N denotes background activity. For example, the method can be applied in the context of epileptic seizure detection. In this case, we try to detect seizure periodics in EEG and ECoG data. In the case of ECoG data, N is essentially 1/f noise. In the case of EEG data and for t in I,N includes noise due to cranial geometry and densities. In both cases N also includes standard low frequency rhythms. Periodicity detection has other applications including ocean wave prediction, cockpit motion sickness prediction, and minefield detection.

Benedetto, John J.; Pfander, Goetz E.

1998-10-01

226

Dyke-davidoff-masson syndrome.  

PubMed

Dyke-Davidoff-Masson syndrome refers to atrophy of one cerebral hemisphere (hemiatrophy) due to an insult to the brain in fetal or early childhood period. This is an uncommon condition. We present a case of a nine month- old female presented with seizure and weakness of the right upper and lower extremities and subsequently computed tomography was performed and showed hemiatrophy of the left fronto-parietal lobe with degenerative changes in the left cerebral peduncle. Keywords: Dyke-Davidoff-Masson syndrome; hemiatrophy; hemiplegia. PMID:23591309

Paudel, Kalyan; Venugopal, Anand

227

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

2005-01-01

228

HELLP Syndrome  

MedlinePLUS

... your baby. You may have to take a steroid. This medicine helps both you and your baby. If you have bleeding, you may need blood transfusions or other treatments in the hospital. Some women who have HELLP syndrome get very sick. Rarely, ...

229

Fahr's Syndrome  

MedlinePLUS

... prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a ...

230

Scimitar syndrome.  

PubMed

Scimitar syndrome, a rare anomaly of partial pulmonary venous drainage into the hepatic portion of the inferior vena cava, detected in a ten-day-old neonate who presented clinically with respiratory distress and diagnosed on ultrasound of the thorax is being reported here. PMID:15812122

Rokade, Muktachand L; Rananavare, R V; Shetty, Devdas S; Saifi, Shenaz

2005-03-01

231

Gardner's syndrome  

Microsoft Academic Search

The complete pedigree of the family with Gardner's syndrome, first reported by Weiner and Cooper, is presented and the natural history of this autosomal dominant disorder is reviewed. Two new cases were found among members of the third generation. Fifteen years after total colectomy, the only affected survivor from the second generation developed a metastasizing adenocarcinoma of the third portion

Robert D. Coli; Jeffery P. Moore; Paul H. La Marche; Frank G. DeLuca; Walter R. Thayer

1970-01-01

232

Hurler Syndrome  

MedlinePLUS

... on from parents to children. Genes carry a set of instructions that tell the body how to work properly. In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block ...

233

Cockayne's syndrome  

Microsoft Academic Search

The clinical and necropsy findings have been described in an 11 year old girl with classical Cockayne's syndrome which consists of microcephaly, dwarfism, bird facies, mental deficiency, retinal pigmentation, deafness, large hands and feet, and a thick skull with a small pituitary fossa. The disease, as is usual, appeared after a normal first year of life and was characterized by

Ursula Rowlatt

1969-01-01

234

Overtraining syndrome  

Microsoft Academic Search

This review discusses the overtraining syndrome which is characterized by fatigue and underperformance precipitated by stress of training. Other stresses, depression and an increased susceptibility to infections may be important. Treatment requires rest and a stress management program over 3 months.

R Budgett

1990-01-01

235

Sensory syndromes.  

PubMed

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

2012-02-14

236

Rett Syndrome.  

ERIC Educational Resources Information Center

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

Culbert, Linda A.

237

[Caplan's syndrome].  

PubMed

The authors describe two cases suffering from Caplan s syndrome, i.e. a combination of pneumoconiosis and rheumatoid arthritis, in miners of deep coal mines in southern Moravia. The finding on the lungs preceded the manifestation of articular symptoms. The disease progressed even after the risk of fibrogenic dust was eliminated. In both patients occupational diseases were involved. PMID:10422515

Benesová, E; Brhel, P

1998-12-01

238

Lynch Syndrome  

MedlinePLUS

... 20s. People with Lynch syndrome tend to develop colon polyps that are more difficult to detect. For this ... of the colon. Chromoendoscopy uses dyes to color colon tissue, which may make it more likely that the flat polyps that tend to occur more often in people ...

239

Refeeding syndrome – awareness, prevention and management  

Microsoft Academic Search

BACKGROUND: Refeeding syndrome is an important, yet commonly overlooked condition affecting patients. It occurs when feeding is commenced after a period of starvation. Head and neck cancer patients are at particular risk owing to prolonged periods of poor nutritional intake. This may be from general effects such as cancer anorexia or from more specific problems of dysphagia associated with this

Hisham M Mehanna; Paul C Nankivell; Jamil Moledina; Jane Travis

2009-01-01

240

Periodicities in Jupiter's magnetotail  

NASA Astrophysics Data System (ADS)

The New Horizons spacecraft had a close flyby of Jupiter in 2007. The Pluto energetic particle spectrometer science investigation (PEPSSI) made measurements beginning early in the same year. It obtained data as the spacecraft flew inward through closest approach and out down Jupiter's magnetotail. Measurements of ions and electrons were obtained to tail distances of over 1 AU. General surveys of electron data from PEPSSI revealed increases in intensity at approximately the spin period of the planet. These periodic variations were obtained well down the tail. It is not completely understood whether there is a periodic source of particles that remain coherent to large distances or whether the planet's period is somehow communicated down the tail. In this work, we will discuss the PEPSSI data by species to study the periodicities in the data and to constrain the source of these phenomena. In the past, other spacecraft data have revealed multiple periodicities much closer to the planet. These have been associated with both the planet's rotation and the periodic release of plasma down the tail.

Paranicas, C.; Haggerty, D. K.; Khurana, K. K.; Bagenal, F.

2011-12-01

241

Calculation of periodic trajectories  

SciTech Connect

Methods are presented for calculating classical periodic trajectories in a two-dimensional non-integrable potential problem. The main one is the monodromy method, which consists in refining an approximate solution by using a ''once-around-the-trajectory'' procedure. This can be done either for a given period or for a given energy. Other methods proceed by searching on the initial conditions until the trajectory closes. We also discuss how to find new periodic families, particularly branchings from already known families, and how to get started when no families are known.

Baranger, M.; Davies, K.T.R.; Mahoney, J.H.

1988-08-15

242

Periodically poled silicon  

NASA Astrophysics Data System (ADS)

We propose a new class of photonic devices based on periodic stress fields in silicon that enable second-order nonlinearity as well as quasi-phase matching. Periodically poled silicon (PePSi) adds the periodic poling capability to silicon photonics and allows the excellent crystal quality and advanced manufacturing capabilities of silicon to be harnessed for devices based on second-order nonlinear effects. As an example of the utility of the PePSi technology, we present simulations showing that midwave infrared radiation can be efficiently generated through difference frequency generation from near-infrared with a conversion efficiency of 50%.

Hon, Nick K.; Tsia, Kevin K.; Solli, Daniel R.; Jalali, Bahram

2009-03-01

243

The Source for Syndromes.  

ERIC Educational Resources Information Center

|Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

Richard, Gail J.; Hoge, Debra Reichert

244

Lorenz Attractor Periodic Orbits  

NSDL National Science Digital Library

The butterfly-like Lorenz attractor is a simplified model of two-dimensional convective fluid flow and is one of the best known images of chaos. Embedded in this attractor are unstable periodic orbits described by Viswanath and this model computes a number of these orbits. Each periodic orbit is classified by the number of times the trajectory orbits the A and B fixed points before it repeats. Note that because the attractor is chaotic and because of numerical errors and the finite precision of the initial conditions, errors accumulate and the trajectory leaves the vicinity of a periodic orbit after a half dozen cycles. The Lorenz Attractor Periodic Orbits Model was created using the Easy Java Simulations (EJS) modeling tool. It is distributed as a ready-to-run (compiled) Java archive. Double clicking the ejs_chaos_LorenzAttractor.jar file will run the program if Java is installed.

Christian, Wolfgang

2009-05-20

245

Interactive Periodic Table  

NSDL National Science Digital Library

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

246

Periodized Daubechies wavelets.  

National Technical Information Service (NTIS)

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...

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

1996-01-01

247

A male with cooccurrence of down syndrome and fragile x syndrome.  

PubMed

Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life. PMID:24083039

Anderson, Tovi; Buterbaugh, Allison; Love, Kaitlin; Visootsak, Jeannie

2013-09-12

248

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome  

PubMed Central

Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life.

Anderson, Tovi; Buterbaugh, Allison; Love, Kaitlin; Visootsak, Jeannie

2013-01-01

249

Periodical Cicada Page  

NSDL National Science Digital Library

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

Cooley, John; Marshall, David

2008-01-14

250

A New Periodicity Lemma  

Microsoft Academic Search

Abstract. Given a string x = x[1..n], a repetition of period p in x is a substring u, is a repetition, t is a proper prefix of u, and no repetition of period p begins at position i 1 of x or ends at position i+rp+|t|. In 2000 Kolpakov and Kucherov [J. Discrete Algorithms, 1 (2000), pp. 159?186] showed that

Kangmin Fan; William F. Smyth; R. J. Simpson

2005-01-01

251

Imaging of periodic dielectrics  

Microsoft Academic Search

We consider imaging of periodic penetrable structures from measurements of scattered electromagnetic waves. The importance\\u000a of this problem stems from the decreasing size of periodic structures in photonic devices, together with an increasing demand\\u000a in fast non-destructive testing. This demand makes qualitative inverse scattering techniques particularly attractive since\\u000a they do not use time consuming optimization techniques for reconstruction but rather

Armin Lechleiter

2010-01-01

252

Superimposed high-frequency jet ventilation combined with continuous positive airway pressure/assisted spontaneous breathing improves oxygenation in patients with H1N1-associated ARDS  

PubMed Central

Background Numerous cases of swine-origin 2009 H1N1 influenza A virus (H1N1)-associated acute respiratory distress syndrome (ARDS) bridged by extracorporeal membrane oxygenation (ECMO) therapy have been reported; however, complication rates are high. We present our experience with H1N1-associated ARDS and successful bridging of lung function using superimposed high-frequency jet ventilation (SHFJV) in combination with continuous positive airway pressure/assisted spontaneous breathing (CPAP/ASB). Methods We admitted five patients with H1N1 infection and ARDS to our intensive care unit. Although all patients required pure oxygen and controlled ventilation, oxygenation was insufficient. We applied SHFJV/CPAP/ASB to improve oxygenation. Results Initial PaO2/FiO2 ratio prior SHFJV was 58-79 mmHg. In all patients, successful oxygenation was achieved by SHFJV (PaO2/FiO2 ratio 105-306 mmHg within 24 h). Spontaneous breathing was set during first hours after admission. SHFJV could be stopped after 39, 40, 72, 100, or 240 h. Concomitant pulmonary herpes simplex virus (HSV) infection was observed in all patients. Two patients were successfully discharged. The other three patients relapsed and died within 7 weeks mainly due to combined HSV infection and in two cases reoccurring H1N1 infection. Conclusions SHFJV represents an alternative to bridge lung function successfully and improve oxygenation in the critically ill.

2012-01-01

253

Biomarkers of HIV-1-associated neurocognitive disorders: challenges of proteomic approaches  

PubMed Central

HIV-1 enters the brain shortly after infection, which may lead to neurological complications and in the most severe cases to encephalitis, dementia and death. The introduction of antiretroviral therapy reduced the incidence of the most severe conditions, nevertheless, approximately half of those infected with this virus will suffer to various degrees from HIV-1-associated neurocognitive disorders. Despite many years of research, there are no biomarkers that can objectively measure and, more importantly, predict the onset and the tempo of HIV-1-associated neurocognitive disorders. Here we review biomarker candidates of neurocognitive impairment due to HIV infection of the brain that have been proposed during the last two decades, and discuss perspectives and limitations of proteomic approaches in the search for new, more sensitive and specific biomarkers.

Ciborowski, Pawel

2012-01-01

254

[Cardiorenal syndrome].  

PubMed

The cardiorenal syndrome describes the frequent clinical situation in which therapy of a patient with acute cardiac decompensation is limited by a decline of renal function. This is frequently associated with preexisting chronic renal insufficiency. It is important to be aware of this potentially fatal constellation and perform diuretic therapy slowly and carefully in order to avoid inadequate volume depletion. This may require surveillance in an intensive care unit. Ultrafiltration is an alternative to diuretic therapy which may permit greater fluid loss when beginning therapy and better control of volume reduction once heart failure symptoms improve. The individual treatment of patients with cardiorenal syndrome requires a close cooperation between cardiologists and nephrologists. PMID:22274302

Alscher, M D; Sechtem, U

2012-03-01

255

[Overlapping syndrome].  

PubMed

Overlapping syndrome (OS) is usually used as the term of the combinations of three connective tissue diseases, i.e., systemic lupus erythematosus (SLE), progressive systemic sclerosis (PSS) and polymyositis (PM) or dermatomyositis (DM). OS is sometimes confused with mixed connective tissue disease (MCTD) since the definitions of the both diseases have not been established yet. Rheumatoid arthritis (RA) is a distinct disease and only exceptionally associated with the other CTD. These rare cases include destructive arthritis of SLE and PSS, multiple peripheral type of psoriatic arthritis, and arthritis associated with X-linked hypogammaglobulinemia and selective IgA deficiency. The conditions complicated with RA are not uncommon. They are osteoporosis, Sjogren's syndrome, amyloidosis and so on. There are some rare conditions or diseases which will be able to develop to RA. These peculiar cases include juvenile rheumatoid arthritis, adult onset Still's disease, polymyalgia rheumatica and palindromic rheumatism. PMID:1588760

Tanimoto, K

1992-03-01

256

Paraneoplastic syndromes  

SciTech Connect

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

Weller, R.E.

1994-03-01

257

Role of activated astrocytes in neuronal damage: Potential links to HIV1-associated dementia  

Microsoft Academic Search

HIV-1-associated dementia (HAD) is an important complication of HIV-1 infection. Reactive astrogliosis is a key pathological\\u000a feature in HAD brains and in other central nervous system (CNS) diseases. Activated astroglia may play a critical role in\\u000a CNS inflammatory diseases such as HAD. In order to test the hypothesis that activated astrocytes cause neuronal injury, we\\u000a stimulated primary human fetal astrocytes

Muralidhar Deshpande; Jialin Zheng; Kathleen Borgmann; Raisa Persidsky; Li Wu; Courtney Schellpeper; Anuja Ghorpade

2005-01-01

258

Disseminated Strongyloides stercoralis Infection in HTLV1Associated Adult T-Cell Leukemia\\/Lymphoma  

Microsoft Academic Search

A 55-year-old woman with human T-cell lymphotropic virus type-1 (HTLV-1)-associated adult T-cell leukemia (ATL) and a history of previously treated Strongyloides stercoralis infection received anti-CD52 monoclonal antibody therapy with alemtuzumab on a clinical trial. After an initial response, she developed ocular involvement by ATL. Alemtuzumab was stopped and high-dose corticosteroid therapy was started to palliate her ocular symptoms. Ten days

Donn M. Stewart; Roshan Ramanathan; Siddhartha Mahanty; Daniel P. Fedorko; John E. Janik; John C. Morris

2011-01-01

259

Human T Cell Lymphotropic Virus Type 1Associated Myelopathy in São Paulo, Brazil  

Microsoft Academic Search

We report epidemiologic and clinical features of human T cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy\\/tropical spastic paraparesis in a Brazilian cohort of 86 patients from a university hospital. Cerebrospinal fluid (CSF) abnormalities and magnetic resonance imaging (MRI) findings were correlated with neurologic signs and symptoms. The patients’ mean age at disease onset was 43.2 years and the female to

Antonio C. P. Milagres; Maria Lúcia S. G. Jorge; Paulo E. Marchiori; Aluisio A. C. Segurado

2002-01-01

260

Metabolic Syndrome  

Microsoft Academic Search

\\u000a Two separate statements published in the autumn of 2005 expressed diametrically opposed views as to the clinical utility of\\u000a “diagnosing” the metabolic syndrome (MetS). On the one hand (1), the American Heart Association (AHA) and the National Heart, Lung, and Blood Institute (NHLBI) firmly endorsed the need\\u000a to establish such a diagnostic category, and, with some minor modifications, utilized the

Gerald M. Reaven

261

Myelodysplastic syndromes  

Microsoft Academic Search

Opinion statement  Myelodysplastic syndromes (MDS) are a heterogenous group of disorders with a variable clinical course and prognosis. Treatment\\u000a should be individualized based on the patient’s age, subtype, percent blasts in the marrow, and cytogenetics. The use of the\\u000a International Prognostic Scoring Index is helpful in assigning prognosis. The standard of care for lowrisk patients is supportive\\u000a care. Low-risk patients with

Kenneth B. Miller

2000-01-01

262

[Gardner syndrome].  

PubMed

The observation of Gardner's syndrome case, in a six year old girl, referred to the hospital for seizures, provides the Authors with the opportunity of reviewing that important subject of the medical and surgical clinical pathology. The diagnostic features and differential diagnosis are described. The current criteria for diagnosis and surveillance of the affected or at risk subjects are outlined. Today the molecular, and, thereafter, the prenatal, neonatal and preclinical diagnosis of the disease, is possible. PMID:8685009

Tarantino, E; Meozzi, A; Villirillo, A; Lamesa, G; Taddeucci, G

263

[Eagle's Syndrome].  

PubMed

Eagle's Syndrome is an entity that is rarely clinically and anatomopathologically identified, and is defined as the elongation of the styloid process and/or the calcification of the styloid ligament. It produces intense pain in the craniocervical region and limitation of cervical movements. It can be mistaken for temporomandibular joint dysfunction. The diagnosis of this entity can be done by physical examination with palpation of the styloid process in the tonsillar fossa, and radiological studies help confirm the diagnosis. PMID:24108342

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes

264

Lemierre syndrome.  

PubMed

Lemierre syndrome is caused by acute oropharyngeal infections with secondary septic thrombophlebitis of the internal jugular vein and is characterized by frequent metastatic infections. A 56-year-old man presented with severe reddish inflammatory swelling of the right cervical soft tissue. Thrombophlebitis in the right internal jugular vein and multiple pulmonary embolisms were identified on neck and chest computed tomography (CT). He was treated with antibiotics and heparin for 4 weeks and then discharged without other complications. PMID:22324031

Bang, Yun Yi; Kim, Jung-Tae; Chang, Woon-Ha; Oh, Tae Yun; Kong, Joon-Hyuk

2011-12-07

265

Lemierre Syndrome  

PubMed Central

Lemierre syndrome is caused by acute oropharyngeal infections with secondary septic thrombophlebitis of the internal jugular vein and is characterized by frequent metastatic infections. A 56-year-old man presented with severe reddish inflammatory swelling of the right cervical soft tissue. Thrombophlebitis in the right internal jugular vein and multiple pulmonary embolisms were identified on neck and chest computed tomography (CT). He was treated with antibiotics and heparin for 4 weeks and then discharged without other complications.

Bang, Yun Yi; Chang, Woon-Ha; Oh, Tae Yun; Kong, Joon-Hyuk

2011-01-01

266

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

267

Child Syndrome  

Microsoft Academic Search

\\u000a CHILD syndrome (OMIM # 308050) is an acronym designation for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects. This X-linked\\u000a dominant, male-lethal trait is characterized by: (1) congenital unilateral inflammatory erythematous patches often covered\\u000a in dry yellowish scales which usually undergo spontaneous partial regression during childhood; (2) psoriasiform epidermal\\u000a hyperplasia with marked hyperkeratosis and parakeratosis, with sparse perivascular lymphocytic infiltrates

Ramón Ruiz-Maldonado; Luz Orozco-Covarrubias; Carola Duran-McKinster; Marimar Saez-De-Ocariz

268

Heterotaxy Syndrome  

PubMed Central

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

2011-01-01

269

[Crush syndrome].  

PubMed

Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure. PMID:17641588

Scapellato, S; Maria, S; Castorina, G; Sciuto, G

2007-08-01

270

Crouzonodermoskeletal syndrome.  

PubMed

Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws. Choanal atresia and hydrocephalus are other features. The molecular defect in CDSS is a point mutation in the FGFR3 gene on chromosome 4p, whereas, the mutation in the Crouzon syndrome is in the FGFR2 gene at 10q25.3-26. An affected girl aged 2 years presented at the UWC dental genetics unit with a prior diagnosis of Crouzon syndrome. Choanal atresia had necessitated a permanent tracheostomy, and hydrocephalus was managed by a shunt operation. Clinical examination revealed acanthosis nigricans in the axilliary regions, a diagnosis confirmed by a biopsy of the lesion. Eruption of the primary dentition was delayed with only six out of twenty teeth present. Radiographic examination conducted shortly after birth revealed the presence of several tooth buds in both the maxillae and the mandible. The delayed eruption of the teeth will be of significance in future orthodontic and maxillofacial measures for the improvement of the patient's facial Crouzonodermoskeletal syndrome (CDSS) was separated from the classical appearance. Molecular investigations in the girl and her parents are underway. If the specific mutation in FGFR3 is observed, a positive diagnosis of CDSS will be confirmed and the status of her parents and other family members will be determined. On this basis, appropriate genetic management can be offered to the kindred. PMID:14969379

Jeftha, A; Stephen, L; Morkel, J A; Beighton, P

2004-01-01

271

Hepatorenal syndrome  

PubMed Central

Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable “bridge treatments” or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

Lata, Jan

2012-01-01

272

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: apaulino@tmh.tmc.edu; 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)

2006-07-15

273

Bisalbuminemia during remission of nephrotic syndrome.  

PubMed

The bisalbuminemia acquired outside of the long-term antibiotic treatment is an exceptional event. It is a rare condition characterised by the presence of two distinct fractions of serum albumin on electrophoresis. This anomaly reflects the presence, at the same time, of a normal albumin and a modified albumin. These changes of albumin may be related to various causes. Their association with nephrotic syndrome is exceptional. We report a case of bisalbuminemia during a period of remission of nephrotic syndrome. PMID:23168859

Akhmouch, I; Alayoud, A; Bahadi, A; Zajjari, Y; Montasser, D; El Allam, M; Oualim, Z

2012-11-01

274

Somatic hypotheses of war syndromes.  

PubMed

Since the end of the American Civil War, unexplained symptoms in military personnel arising after a war or peace mission have frequently been described. The pattern of symptoms is highly similar for all of the various war syndromes although the conditions of each war or peace mission are widely different. Many somatic hypotheses have been formulated to explain these syndromes; a considerable proportion of them are already outdated. In the last few years much attention has been given to Gulf War Syndrome and to unexplained symptoms of military personnel who were sent to Cambodia, Rwanda, Burundi, Zaire, or the former Yugoslavia. In this review the symptoms of war syndromes will be considered in more detail and the suggested somatic explanations will be discussed. During the last decade the following somatic causes have been suggested as possible explanations for these symptoms: (persistent) infection, abnormal immune response, administration of multiple vaccinations within a short period of time, use of malaria chemoprophylaxis, neurological abnormalities, exposure to toxicological substances and environmental factors. The various investigations performed to study these hypotheses are discussed. The fact that bias regularly occurs in the course of these investigations is pointed out. For the future, a reliable investigation of a war syndrome should be a prospective multidisciplinary study and should distinguish between causative and sustaining factors. PMID:10886303

Soetekouw, P M; de Vries, M; van Bergen, L; Galama, J M; Keyser, A; Bleijenberg, G; van der Meer, J W

2000-07-01

275

ADHD and genetic syndromes  

Microsoft Academic Search

A high rate of Attention Deficit\\/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter

Adriana Lo-Castro; Elisa D’Agati; Paolo Curatolo

2011-01-01

276

Down syndrome and ionizing radiation.  

PubMed

This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl passed. In approximately 90% of cases, Down Syndrome is due to the nondisjunction of chromosome 21, most often in the oocyte, which may be exposed to ionizing radiation during two separate periods: before the completion of the first meiosis or around the time of ovulation. Most epidemiologic studies into trisomies and exposure to ionizing radiation examine only the first period; the Chernobyl cluster is related to the second. Analysis of these epidemiologic results indicates that the possibility that ionizing radiation might be a risk factor in Down Syndrome cannot be excluded. The experimental results, although sometimes contradictory, demonstrate that irradiation may induce nondisjunction in oogenesis and spermatogenesis; they cannot, however, be easily extrapolated to humans. The weaknesses of epidemiologic studies into the risk factors for Down Syndrome at birth (especially the failure to take into account the trisomy cases leading to spontaneous abortion) are discussed. We envisage the utility and feasibility of new studies, in particular among women exposed to prolonged or repeated artificially-produced ionizing radiation. PMID:9373065

Verger, P

1997-12-01

277

Superior vena cava syndrome: A medical emergency?  

PubMed Central

Superior vena cava (SVC) syndrome was originally described as being secondary to an infection. Currently, it is almost exclusively secondary to malignancy. A case of SVC syndrome presenting with dyspnea, facial swelling, neck distension and cough developed over a period of 10 days is reported. The approach included imaging studies and tissue diagnosis. Computed tomography scan of the chest revealed a lobulated mass on the right upper chest invading the mediastinum, and cytology obtained from bronchoscopy revealed squamous cell carcinoma. The etiology, diagnosis and treatment modalities of the SVC syndrome are discussed.

Cohen, Ronny; Mena, Derrick; Carbajal-Mendoza, Roger; Matos, Ninon; Karki, Nishu

2008-01-01

278

Period and Styles  

NSDL National Science Digital Library

Designed by Tulane University Professor Hugh Lester to complement his courses for advanced theater design students, this collection of teaching modules and images will appeal to anyone with an interest in architecture or historical design. The modules offer varying levels of detail about historical time periods from Ancient Egypt to Modern. The image collection offers photos and information on a variety of architectural, decorative and furniture styles. Typical entries include a thumbnail image, location, name of architect or designer, and date of construction. Some provide commentary on the design and its place in the period. Access to images varies in terms of how it is organized in the module and image sections.

279

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.

280

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.

281

Perspectives on craniofacial syndromes.  

PubMed

This article reviews syndrome classification; types of anomalies and their interrelations; syndrome delineation; birth prevalence; nomenclature; molecular delineation; and phenotype/genotype correlations. PMID:10066108

Cohen, M M; Kreiborg, S

1998-12-01

282

Cyclic Bicytopenia in a Patient with Shapiro Syndrome  

PubMed Central

Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

Roeker, Lindsey E.; Gupta, Vinay; Gonsalves, Wilson I.; Wolanskyj, Alexandra P.; Gangat, Naseema

2013-01-01

283

SCIENCE PERIODICALS USE STUDY  

Microsoft Academic Search

A two-semester study of science periodicals usage at State University of New York at Albany was conducted to identify little used titles for storage or possibly discard. Even in this large multidisciplinary collection a small core of journals accounted for a large percentage of use. Use patterns over time were also recorded and are reported for selected titles. Use rankings

Barbara A. Rice

1979-01-01

284

Indexing of Feminist Periodicals  

Microsoft Academic Search

During the last twelve years there has been a phenomenal increase in the number of periodicals focusing on women's studies and feminism. Initially these titles were ignored by most indexing and abstracting services. The earliest indexing, by the Alternative Press Index and Women Studies Abstracts appeared in 1971 and 1972. Since 1975 there has been a marked increase in the

Mary Alice Sanguinetti

1984-01-01

285

Scheduling: Seven Period Day  

ERIC Educational Resources Information Center

|Driven by stable or declining financial resources many school districts are considering the costs and benefits of a seven-period day. While there is limited evidence that any particular scheduling model has a greater impact on student learning than any other, it is clear that the school schedule is a tool that can significantly impact teacher…

Williamson, Ronald

2010-01-01

286

Printable Periodic Tables  

NSDL National Science Digital Library

This collection of periodic tables features a variety of styles, color or black and white versions, and several levels of information, from basic symbols, atomic number, and mass, to advanced versions that include melting point, boiling point, density, electronegativity, and electron configurations. The tables are provided in downloadable, printable format (PDF). Some versions feature links to additional information on the elements.

287

Adaptive periodic IIR filters  

Microsoft Academic Search

We consider adaptive periodic IIR filtering and present an extension of the hyperstable adaptive recursive filter (HARF). We give conditions for convergence of the parameter estimate error, involving passivity of certain operators in the identification loop, identifiability of the system parameters, and persistent excitation (PE). A necessary and sufficient condition for identifiability is given and subject to its satisfaction, input-only

J. W. Whikehart; S. Dasgupta

1997-01-01

288

Liver abnormalities in Turner syndrome  

Microsoft Academic Search

We evaluated whether hepatic abnormalities represent a specific feature in girls with Turner syndrome (TS) or whether they\\u000a are related to an increased susceptibility to hormonal therapies and\\/or other factors. Alanine aminotransferase, aspartate\\u000a aminotransferase and ?-glutamyl transferase were monitored in 70 patients with TS for a mean period of 7.6?±?4.2 years. An\\u000a increase in serum liver enzymes was observed in

M. Salerno; S. Di Maio; N. Gasparini; M. Rizzo; P. Ferri; P. Vajro

1999-01-01

289

[Piriformis syndrome].  

PubMed

Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

2010-09-20

290

Serotonin syndrome.  

PubMed

Serotonin syndrome is a preventable, drug-related complication that results from increased brainstem serotonin activity, usually precipitated by the use of one or more serotonergic drugs. Its clinical presentation consists of autonomic dysfunction, alteration in mental status, and neuromuscular disorder. Early recognition and treatment is important, because this condition is potentially fatal. Management includes withdrawal of causative agents and supportive measures such as hemodynamic stabilization, sedation, temperature control, hydration, and monitoring for complications. Serotonin antagonists, specifically cyproheptadine, have been used, but the documented benefits are purely anecdotal. PMID:16681290

Prator, Bettina C

2006-04-01

291

[Hypereosinophilic syndrome].  

PubMed

Hypereosinophilic syndrome is a heterogeneous group of diseases characterized by blood hypereosinophilia and eosinophil-related organ damage. A comprehensive diagnostic work-up is necessary to identify underlying conditions and to detect organ involvement, which are important for prognosis. Involvement of the heart is related with a poorer outcome. Some underlying conditions can be treated with targeted therapies, e.g., tyrosine kinase inhibitors. However, glucocorticoids in combination with steroid-sparing drugs are generally used for treatment. Furthermore, the growing understanding of the molecular pathogenesis will lead to new therapies, e.g., the use of anti-cytokine antibodies. PMID:23455624

Moosig, F; Richardt, G; Merten, C; Gross, W L

2013-04-01

292

Mazabraud syndrome  

PubMed Central

A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported.

John, Anulekha Mary; Behera, Kishore Kumar; Mathai, Thomas; Parmar, Harshad; Paul, Thomas V.

2013-01-01

293

Behçet's syndrome.  

PubMed

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

2013-03-14

294

[Alagille syndrome].  

PubMed

Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure. PMID:23224309

Ciocca, Mirta; Alvarez, Fernando

2012-12-01

295

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.

2013-07-01

296

Periodicals.net  

NSDL National Science Digital Library

Produced by Library Technology Alliance, Ltd., Periodicals.net indexes 97,000 publications whose content is available through online vendors or that are published online. The search page allows keyword queries by title, subject, or ISSN, and users can further specify coverage type (full, abstract, index) and vendor. Initial returns include titles and ISSN. Full entries list vendors that offer content from the periodical, dates of coverage, and a link to their homepage. Users who would like to access content from these vendors must, of course, belong to an institution with a subscription or subscribe themselves. The site also offers a Search E-Journals interface, which indexes many free resources available online. Search returns in this category link to the publications's homepages.

297

Periodic mesoporous silica gels  

SciTech Connect

We have synthesized monolithic particulate gels of periodic mesoporous silica by adding tetramethoxysilane to a homogeneous alkaline micellar precursor solution. The gels exhibit 5 characteristic length scales over 4 orders of magnitude: fractal domains larger than the particle size (>500 nm), particles that are {approximately}150 to 500 nm in diameter, interparticle pores that are on the order of the particle size, a feature in the gas adsorption measurements that indicates pores {approximately}10-50 nm, and periodic hexagonal arrays of {approximately}3 nm channels within each particle. The wet gel monoliths exhibit calculated densities as low as {approximately}0.02 g/cc; the dried and calcined gels have bulk densities that range from {approximately}0.3-0.5 g/cc. The materials possess large interparticle ({approximately}1.0-2.3 cc/g) and intraparticle ({approximately}0.6 cc/g) porosities.

Anderson, M.T.; Martin, J.E.; Odinek, J.G. [and others

1996-06-01

298

Cells anticipate periodic events  

NASA Astrophysics Data System (ADS)

We show that an amoeboid organism can anticipate the timing of periodic events. The plasmodium of the true slime mold Physarum polycephalum moves rapidly under favourable conditions, but stops moving when transferred to less-favourable conditions. Plasmodia exposed to unfavourable conditions, presented in three consecutive pulses at constant intervals, reduced their locomotive speed in response to each episode. When subsequently subjected to favourable conditions, the plasmodia spontaneously reduced their locomotive speed at the time point when the next unfavourable episode would have occurred. This implied anticipation of impending environmental change. After this behaviour had been evoked several times, the locomotion of the plasmodia returned to normal; however, the anticipatory response could subsequently be induced by a single unfavourable pulse, implying recall of the memorized periodicity. We explored the mechanisms underlying these behaviours from a dynamical systems perspective. Our results hint at the cellular origins of primitive intelligence and imply that simple dynamics might be sufficient to explain its emergence.

Nakagaki, Toshiyuki

2009-03-01

299

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.

1996-01-01

300

Periodicals Records Conversion  

Microsoft Academic Search

The University of Dayton Libraries used their OCLC Union List tape to convert 6,181 brief in-house periodical records to MARC records. The results of this eight-month-long project not only enhance searching capabilities in UD Libraries' local online catalog, but also enable the libraries to participate as full member-institutions of the Ohio Library Information Network (OhioLINK). Since the method used for

Susan L. Tsui

1995-01-01

301

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-

2008-01-07

302

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.

2008-12-04

303

Myelodysplastic syndromes.  

PubMed

Session 4 of the 2007 Workshop of the Society for Hematopathology/European Association for Haematopathology was devoted to myelodysplastic syndromes (MDSs). Submitted cases highlighted important issues and difficulties in relation to the diagnosis and classification of MDS. Much of the discussion focused on the correlation, or lack of it, between morphologic examination and other diagnostic techniques, cytogenetics in particular. The cases included examples of isolated del(5q) chromosomal abnormality, including the "classical" 5q- syndrome and other myeloid neoplasms. Other cytogenetic abnormalities in MDSs and the role of cytogenetics in diagnosing MDSs were addressed. Particularly challenging is the correct identification of fibrotic subtypes of MDSs and their separation from subsets of acute myeloid leukemia with myelofibrosis such as acute panmyelosis with myelofibrosis. The association and eventual relation of MDSs (hypoplastic in particular) with aplastic anemia, paroxysmal nocturnal hemoglobinuria, and other nonneoplastic disorders were illustrated. Novel cytogenetic and molecular genetic approaches are likely to revolutionize the classification of MDSs. However, it is unlikely that these new techniques will be capable, on their own, of adequately stratifying patients for treatment purposes. At least for the foreseeable future, the diagnosis of MDS requires integration of morphologic, immunophenotypic, and genetic features in the light of patient history and clinical manifestations. PMID:19605823

Orazi, Attilio; Czader, Magdalena B

2009-08-01

304

[Hyponatremic syndrome].  

PubMed

Sodium, the most important extracellular fluid electrolyte, is the focus of several homeostatic mechanisms that regulate fluid and electrolyte balance. Hyponatremia is a common electrolyte abnormality caused by an actual sodium deficiency or extracellular compartment fluid excess. Clinical symptoms are related with acuity and speed with which this abnormality is established. The symptoms are mainly neurological and neuromuscular disorders (headache, confusion, stupor, seizures, coma) due to brain cells edema. Hyponatremia due to sodium deficiency is caused by sodium loss from kidney (nephritis, diuretics, mineralocorticoid deficiency) and / or extrarenal (vomiting, diarrhea, burns). Hyponatremia due to water excess seems to be the most common and it is attributable to cirrhosis, nephrotic syndrome, heart failure, infusion 5% glucose solutions and drugs that stimulate ADH secretion. It was recently highlighted the role of inflammation and IL-6 in the non-osmotic ADH release. Hyponatremia is considered also marker of phlogosis. Acute (<48 h) and severe (<125 mEq/ L) hyponatremia is a medical emergency that requires prompt correction. Patients with chronic hyponatremia have a high risk of osmotic demyelination syndrome if rapid correction of the plasmatic sodium occurs. In combination with conventional therapy, a new class of drugs, vasopressin receptors antagonists (AVP-R antagonists) would be able to increase the excretion of electrolyte-free water and the serum sodium concentration. PMID:22362242

Urso, C; Caimi, G

2012-01-01

305

Reed's Syndrome  

PubMed Central

Multiple cutaneous and uterine leiomyomatosis, also known as Reed's syndrome, is an autosomal dominant genetic condition. Affected individuals have an increased predisposition to develop benign smooth muscle tumors (leiomyomas) in the skin and uterus. Affected females frequently develop uterine leiomyomas (fibroids) that are larger and more numerous and emerge earlier than those in the general population. Subsets of these patients are at risk for renal cell cancer and have been determined to have mutations in the fumarate hydratase gene. In individuals or families without renal cell cancer, the syndrome may be referred to as multiple cutaneous leiomyomatosis or multiple cutaneous and uterine leiomyomatosis. The term hereditary leiomyomatosis and renal cell cancer refers to families with an increased prevalence of smooth muscle tumors and renal cell cancer as a result of the fumarate hydratase genetic defect. In this article, the authors introduce a case of a young woman who presented with multiple, intermittently painful, cutaneous leiomyomas and a history of large uterine fibroids previously causing anemia and requiring surgical intervention. Further investigation revealed a family history of mutations in the fumarate hydratase gene. The patient is currently being monitored by the National Institutes of Health.

Solomon, Shayna; Mercer, Stephen E.

2011-01-01

306

Sheehan's syndrome.  

PubMed

Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The ?rst most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account. PMID:23245206

Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

2012-12-18

307

Premenstrual syndrome.  

PubMed

Premenstrual syndrome, a common cyclic disorder of young and middle-aged women, is characterized by emotional and physical symptoms that consistently occur during the luteal phase of the menstrual cycle. Women with more severe affective symptoms are classified as having premenstrual dysphoric disorder. Although the etiology of these disorders remains uncertain, research suggests that altered regulation of neurohormones and neurotransmitters is involved. Premenstrual syndrome and premenstrual dysphoric disorder are diagnoses of exclusion; therefore, alternative explanations for symptoms must be considered before either diagnosis is made. The disorders can manifest with a wide variety of symptoms, including depression, mood lability, abdominal pain, breast tenderness, headache, and fatigue. Women with mild symptoms should be instructed about lifestyle changes, including healthy diet, sodium and caffeine restriction, exercise, and stress reduction. Supportive strategies, such as use of a symptom diary, may be helpful in diagnosing and managing the disorders. In women with moderate symptoms, treatment includes both medication and lifestyle modifications. Dietary supplements, such as calcium and evening primrose oil, may offer modest benefit. Selective serotonin reuptake inhibitors such as fluoxetine and sertraline are the most effective pharmacologic agents. Prostaglandin inhibitors and diuretics may provide some relief of symptoms. Only weak evidence supports the effectiveness of gonadotropin-releasing hormone agonists, androgenic agents, estrogen, progesterone, or other psychotropics, and side effects limit their use. PMID:12725453

Dickerson, Lori M; Mazyck, Pamela J; Hunter, Melissa H

2003-04-15

308

Cushing's Syndrome  

MedlinePLUS

... 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 ...

309

Epidemiology of Turner syndrome  

Microsoft Academic Search

The epidemiology of Turner syndrome is largely unknown. A few studies of prevalence and incidence of the syndrome have been performed based on large chromosome surveys, and based on these studies it may be estimated that Turner syndrome occur in 50 per 100,000 liveborn females. A considerable delay in diagnosis of new cases of Turner syndrome exists in all studied

Claus Højbjerg Gravholt; Kirstine Stochholm

2008-01-01

310

Restless Legs Syndrome  

MedlinePLUS

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

311

Stiff-Person Syndrome  

MedlinePLUS

NINDS Stiff-Person Syndrome Information Page Table of Contents (click to jump to sections) What is Stiff-Person Syndrome? Is there ... is being done? Clinical Trials Organizations What is Stiff-Person Syndrome? Stiff-person syndrome (SPS) is a rare neurological ...

312

Cytochrome P-450 expression in sudden infant death syndrome  

Microsoft Academic Search

In the human liver, the major rise of the cytochrome P-450 isoform content occurs during the first months following birth (e.g., the high vulnerability period to sudden infant death syndrome (SIDS), a syndrome frequently associated with viral infection and drug hypersensitivity. We examined the expression of individual P-450 isoforms in liver samples collected postmortem from SIDS infants and compared values

Jean Marc Treluyer; Gérard Cheron; Michelle Sonnier; Thierry Cresteil

1996-01-01

313

Persistent genital arousal in women – a new syndrome entity  

Microsoft Academic Search

Summary: The persistent sexual arousal syndrome (PSAS) is a newly described entity where women become involuntarily aroused genitally for extended periods in time in the absence of sexual desire. Genital vasoengorgement and oedema have been observed. These women are found to be usually very distressed. The cause of the syndrome in the majority of cases is unknown, although a number

David Goldmeier; Sandra R Leiblum

2006-01-01

314

Neurocognitive recovery in SMART syndrome: A case report  

Microsoft Academic Search

Introduction: Stroke-like migraine attacks after radiation therapy, or SMART syndrome, is characterised by migraine-like headache with or without aura, transient neurological dysfunction, including seizures, and gyriform enhancement on magnetic resonance imaging (MRI) which resolves over a period of weeks. Detailed neuropsychological characterisation in SMART syndrome is lacking and there are no published data on the course and pattern of neurocognitive

Jennifer Bradshaw; Luke Chen; Michael Saling; Greg Fitt; Andrew Hughes; Ariane Dowd

2011-01-01

315

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.

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

2009-01-01

316

Interplay among BRCA1, SIRT1 and Survivin during BRCA1-Associated Tumorigenesis  

PubMed Central

Summary Germline mutations of BRCA1 predispose women to breast and ovarian cancers. However, the downstream mediators of BRCA1 function in tumor suppression remain elusive. We found that human BRCA1-associated breast cancers have lower levels of SIRT1 than their normal controls. We further demonstrated that mammary tumors from BRCA1 mutant mice have low levels of SIRT1 and high levels of Survivin, which is reversed by induced expression of BRCA1. BRCA1 binds to the SIRT1 promoter and increases SIRT1 expression, which in turn inhibits Survivin by changing the epigenetic modification of histone H3. Absence of SIRT1 blocks the regulation of Survivin by BRCA1. Furthermore, we demonstrated that activation of SIRT1 and inhibition of Survivin expression by resveratrol elicit a more profound inhibitory effect on BRCA1-mutant cancer cells than on BRCA1-wild type cancer cells both in vitro and in vivo. These findings suggest that resveratrol treatment serves as an excellent strategy for targeted therapy for BRCA1-associated breast cancer.

Wang, Rui-Hong; Zheng, Yin; Kim, Hyun-Seok; Xu, Xiaoling; Cao, Liu; Lahusen, Tyler; Lee, Mi-Hye; Xiao, Cuiying; Vassilopoulos, Athanassios; Chen, Weiping; Gardner, Kevin; Man, Yan-Gao; Hung, Mien-Chie; Finkel, Toren; Deng, Chu-Xia

2008-01-01

317

UBV and uvby-beta observations of Orion OB1 Association (Warren+ 1977)  

NASA Astrophysics Data System (ADS)

The Catalogue of Individual UBV and uvby-beta Observations of Stars in the Region of the Orion OB 1 Association presents individual UBV observations of 106 stars in the vicinity of the Orion Nebula (the Sword region) and individual uvby-beta observations of 508 stars in all regions of the Orion OB 1 association. For the UBV data the stars are identified by their Brun (1935) numbers, with cross identifications to the chart numbers used in Warren and Hesser (1977); the uvby-beta stars are identified by the aforementioned chart numbers and HD, BD or P (Parenago 1954) numbers in that order of preference. The catalogue contains the data of all observations and is intended to provide data for investigations of variability in the Orion region. See http://obswww.unige.ch/gcpd/ph01.html for a full description of the UBV system, and http://obswww.unige.ch/gcpd/ph04.html for a description of uvby-beta system. (2 data files).

Warren, W. H., Jr.; Hesser, J. E.

1995-03-01

318

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.

2011-01-01

319

Genotype and early development in Rett syndrome: The value of international data  

Microsoft Academic Search

Background: Rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mutations in the MECP2 gene. Originally the syndrome was characterised as having a normal prenatal and perinatal period with later regression. Previous work has speculated that the girl with Rett syndrome may not be normal at birth. Aims: to examine whether early development between birth and ten

Helen Leonard; Hannah Moore; Mary Carey; Susan Fyfe; Sonj Hall; Laila Robertson; Xi Ru Wu; Xinhua Bao; Hong Pan; John Christodoulou; Sarah Williamson; Nick de Klerk

2005-01-01

320

Joubert syndrome. Review of the fifty-three cases so far published.  

PubMed

Joubert's syndrome (JS) is an autosomal recessive disorder, which is characterised by a variable combination of central nervous, respiratory and eye anomalies. We review the clinical characteristics of the 53 so far reported children with Joubert's syndrome, stressing the importance of recognising the syndrome in the neonatal period, in order that specific and effective therapeutic measures be started as soon as possible. PMID:2241092

Cantani, A; Lucenti, P; Ronzani, G A; Santoro, C

1990-01-01

321

Burning mouth syndrome  

PubMed Central

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

2010-01-01

322

Burning mouth syndrome  

PubMed Central

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

2008-01-01

323

[Nakajo-Nishimura syndrome].  

PubMed

Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like rash. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular atrophy in the upper body, mainly the face and the upper extremities, to show the characteristic long clubbed fingers with joint contractures. So far about 30 cases have been reported from Kansai, especially Wakayama and Osaka, Tohoku and Kanto areas. In addition to 10 cases in Kansai area, which have been confirmed to be alive by national surveillance, an infant case has newly been discovered in Wakayama and more cases will be added. Although cause of the disease has long been undefined, a homozygous mutation of the PSMB8 gene, which encodes the ?5i subunit of immunoproteasome, has been identified by homozygosity mapping. By analyses of the patients-derived cells and tissues, it has been suggested that accumulation of ubiquitinated and oxidated proteins due to deficiency of proteasome activities cause hyperactivation of p38 MAPK and overproduction of IL-6. Similar diseases with PSMB8 mutations have recently been reported from Europe and the U.S.A., and therefore, it is becoming clear that proteasome deficiency syndromes are globally distributed as a new category of the autoinflammatory diseases. PMID:22041427

Kanazawa, Nobuo; Arima, Kazuhiko; Ida, Hiroaki; Yoshiura, Koh-ichiro; Furukawa, Fukumi

2011-01-01

324

Reactive arthritis (Reiter's syndrome).  

PubMed

Reactive arthritis, also called Reiter's syndrome, is the most common type of inflammatory polyarthritis in young men. It is sometimes the first manifestation of human immunodeficiency virus infection. An HLA-B27 genotype is a predisposing factor in over two thirds of patients with reactive arthritis. The syndrome most frequently follows genitourinary infection with Chlamydia trachomatis, but other organisms have also been implicated. Treatment with doxycycline or its analogs sometimes shortens the course or aborts the onset of the arthritis. Reactive arthritis may also follow enteric infections with some strains of Salmonella or Shigella, but use of antibiotics in these patients has not been shown to be effective. Reactive arthritis should always be considered in young men who present with polyarthritis. Symptoms may persist for long periods and may, in some cases, cause long-term disability. Initial treatment consists of high doses of potent nonsteroidal anti-inflammatory drugs. Patients with large-joint involvement may also benefit from intra-articular corticosteroid injection. PMID:10465225

Barth, W F; Segal, K

1999-08-01

325

Chronic fatigue syndrome  

PubMed Central

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

2011-01-01

326

Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation.  

PubMed

Long considered a rare and unique disorder of respiratory control, congenital central hypoventilation syndrome has recently been further distinguished as a disorder of autonomic regulation. Similarly, more recent evidence suggests that sudden infant death syndrome is also a disorder of autonomic regulation. Congenital central hypoventilation syndrome typically presents in the newborn period with alveolar hypoventilation, symptoms of autonomic dysregulation and, in a subset of cases, Hirschsprung disease or tumors of neural crest origin or both. Genetic investigation identified PHOX2B, a crucial gene during early autonomic development, as disease defining for congenital central hypoventilation syndrome. Although sudden infant death syndrome is most likely defined by complex multifactorial genetic and environmental interactions, it is also thought to result from central deficits in the control of breathing and autonomic regulation. The purpose of this article is to review the current understanding of these autonomic disorders and discuss the influence of this information on clinical practice and future research directions. PMID:23465774

Rand, Casey M; Patwari, Pallavi P; Carroll, Michael S; Weese-Mayer, Debra E

2013-03-01

327

Visual Elements Periodic Table  

NSDL National Science Digital Library

This interactive periodic table merges science and art to explore the elements in a unique and visually striking way. The table is arranged in the traditional format, but each element is represented by a photograph or illustration relating to its origin or use. With a click, users can view extensive data and brief histories of 103 elements. Videos and podcasts have also been embedded for some of the more common elements, such as nitrogen, carbon, and sodium. This resource, developed and maintained by the Royal Society of Chemistry, is available in both HTML and Flash versions. Some of the animations require additional plug-ins.

2003-10-10

328

Controls on geyser periodicity  

USGS Publications Warehouse

Geyser eruption frequency is not constant over time and has been shown to vary with small (???10-6) strains induced by seismic events, atmospheric loading, and Earth tides. The geyser system is approximated as a permeable conduit of intensely fractured rock surrounded by a less permeable rock matrix. Numerical simulation of this conceptual model yields a set of parameters that controls geyser existence and periodicity. Much of the responsiveness to remote seismicity and other small strains in the Earth can be explained in terms of variations in permeability and lateral recharge rates.

Ingebritsen, S. E.; Rojstaczer, S. A.

1993-01-01

329

Leopard syndrome  

PubMed Central

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable.

Sarkozy, Anna; Digilio, Maria Cristina; Dallapiccola, Bruno

2008-01-01

330

Child neurology: Zellweger syndrome.  

PubMed

Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia, poor feeding, hepatic dysfunction, and often seizures and boney abnormalities. In patients with ZS, a mutation in one of the PEX genes coding for a peroxin (a peroxisome assembly protein) creates functionally incompetent organelles causing an accumulation of very long chain fatty acids (VLCFA), among other complications. Despite an absence of treatment options, prompt diagnosis of ZS is important for providing appropriate symptomatic care, definitive genetic testing, and counseling regarding family planning. PMID:23671347

Lee, Paul R; Raymond, Gerald V

2013-05-14

331

Latent Periodicity of Protein Sequences  

Microsoft Academic Search

This article is in the area of protein sequence investigation. It studies protein sequence periodicity. The notion of latent periodicity is introduced. A mathematical method for searching for latent periodicity in protein sequences is developed. Implementation of the method developed for known cases of perfect and imperfect periodicity is demonstrated. Latent periodicity of many protein sequences from the SWISS-PROT data

Maria A. Korotkova; Eugene V. Korotkov; Valentina M. Rudenko

1999-01-01

332

Bouveret syndrome.  

PubMed

Gastric outlet obstruction secondary to an impacted duodenal gallstone, or Bouveret syndrome, is a rare variant of gallstone ileus. It is most common in elderly women and frequently requires endoscopic or surgical management. We present the case of an 80-year-old woman with multiple medical comorbidities who presented to our service with 2 weeks of abdominal pain and nausea. MRI revealed a 4.4-cm gallstone impacted in the duodenum with associated cholecystoduodenal fistula. She required operative exploration to remove the impacted stone and had an unremarkable post-operative course. This case demonstrates the presentation and workup of this rare disorder and the various options for treatment, which can sometimes be difficult given the typical age and associated comorbidities of the patient. PMID:23775095

Shah, Shinil K; Walker, Peter A; Fischer, Uwe M; Karanjawala, Burzeen E; Khan, Saleem A

2013-06-18

333

Nodding syndrome.  

PubMed

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

2013-09-01

334

Lowe syndrome  

PubMed Central

Lowe syndrome (LS) is a lethal X-linked genetic disease caused by functional deficiencies of the phosphatidlyinositol 5-phosphatase, Ocrl1. In the past four years, our lab described the first Ocrl1-specific cellular phenotypes using dermal fibroblasts from LS patients. These phenotypes, validated in an ocrl1-morphant zebrafish model, included membrane remodeling (cell migration/spreading, fluid-phase uptake) defects and primary cilia assembly abnormalities. On one hand, our findings unraveled cellular phenotypes likely to be involved in the observed developmental defects; on the other hand, these discoveries established LS as a ciliopathy-associated disease. This article discusses the possible mechanisms by which loss of Ocrl1 function may affect RhoGTPase signaling pathways leading to actin cytoskeleton rearrangements that underlie the observed cellular phenotypes.

Madhivanan, Kayalvizhi; Mukherjee, Debarati; Aguilar, R. Claudio

2012-01-01

335

Binder's syndrome  

PubMed Central

Binder syndrome or maxillonasal dysplasia is an uncommon developmental anomaly affecting primarily the anterior part of the maxilla and nasal complex. The characteristic findings are a failure of development in the premaxillary area with associated deformities of the nasal skeleton and the overlying soft tissues. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a ‘reverse overbite’ (or class III malocclusion). A 16-year-old female reported to clinic with chief complaint of facial deformity, on examination patient had classical feature of maxillonasal dysplasia. A brief review of the condition and the proposed multi-disciplinary treatment plan is discussed.

Jain, Upendra; Thakur, Gagan; Kallury, Amitabh

2011-01-01

336

[Behçet's syndrome].  

PubMed

Behcet's syndrome (BS) is characterized by recurrent episodes of inflammatory manifestations, including oral and genital aphtosis, skin lesions, ocular attacks, arthritis, central nervous system and vascular manifestations (venous and arterial compartments). BS is more common in populations living in the ancient "silk road" from eastern Europe all the way to Japan. Several evidence suggest that both genetic and environmental factors are involved the pathogenesis. The association with the antigen HLA-B51 is observed with a highest frequency among patients of Middle Eastem countries and Japan. The diagnosis of BS is primarily established on clinical grounds in the absence of specific biological marker. The treatment is tailored according to the severity of clinical manifestations. The prognosis is more severe in young men. PMID:18472734

Gabay, C

2008-03-19

337

Low expression of bcl-2 in Brca1-associated breast cancers  

PubMed Central

Little data are available concerning the molecular mechanisms of action of Brca1 and Brca2 in breast oncogenesis. Recent experimental results suggest that Brca1 plays a role in the regulation of apoptosis. In order to determine whether the analysis of human tumours would provide data supporting this hypothesis, we have assessed the expression of the antiapoptotic bcl-2 and of the proapoptotic p53 genes in Brca1- and Brca2-associated breast carcinomas. The levels of expression of these genes were compared to those observed in controls and to the mitotic and the apoptotic indexes. Our series were composed of 16 cases of breast carcinoma in women with a germline Brca1 gene mutation, and of four cases with Brca2 mutation. A group of 39 patients aged under 36 years and for whom the search for Brca1 gene mutations was negative, and a group of 36 cases of sporadic cancers without data on their Brca status were used as controls. Immunohistochemistry was used to detect p53 and bcl-2 gene products. Mitotic and apoptotic indexes were higher in Brca1-associated tumours than in controls. No significant difference in p53 immunostaining was observed between the four groups of patients. In contrast, the rate of bcl-2-positive tumours was lower (31%) in Brca1-carcinomas than in carcinomas without Brca1 mutation (90%) (P< 10–3). A strong Bcl-2 expression was found in the four cases of Brca2-associated carcinomas. No significant correlation was observed between p53 and Bcl-2 immunostainings, either in cases or in controls. The association between Brca1 status and Bcl-2 expression remained significant after adjustment for the oestrogen receptor status. Our study shows that a low expression of bcl-2 characterises most Brca1-associated breast carcinomas, a biological trait which seems not to be shared by Brca2-associated tumours nor to be related to oestrogen receptor and/or p53 status.bcl-2 might thus be one of the target genes involved in the oncogenesis related to Brca1 and its down-regulation may account for the increased apoptosis and the high proliferative rate observed in Brca1-associated carcinomas. © 2000 Cancer Research Campaign

Freneaux, P; Stoppa-Lyonnet, D; Mouret, E; Kambouchner, M; Nicolas, A; Zafrani, B; Vincent-Salomon, A; Fourquet, A; Magdelenat, H; Sastre-Garau, X

2000-01-01

338

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.

van der Burgt, Ineke

2007-01-01

339

75 FR 1301 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

...RM2010-7; Order No. 372] Periodic Reporting AGENCY: Postal Regulatory...methods approved for use in periodic reporting.\\1\\ Proposal...Analytical Principles Used in Periodic Reporting (Proposals Three...Inter-BMC volume distribution table in the billing...

2010-01-11

340

Ophthalmic Disorders in Adults with Down Syndrome  

PubMed Central

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.

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

2012-01-01

341

Supernumerary teeth in non-syndromic patients  

PubMed Central

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.

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

2012-01-01

342

Functional interaction of BRCA1-associated BARD1 with polyadenylation factor CstF-50.  

PubMed

Polyadenylation of messenger RNA precursors requires a complex protein machinery that is closely integrated with the even more complex transcriptional apparatus. Here a polyadenylation factor, CstF-50 (cleavage stimulation factor), is shown to interact in vitro and in intact cells with a nuclear protein of previously unknown function, BRCA1-associated RING domain protein (BARD1). The BARD1-CstF-50 interaction inhibits polyadenylation in vitro. BARD1, like CstF-50, also interacts with RNA polymerase II. These results indicate that BARD1-mediated inhibition of polyadenylation may prevent inappropriate RNA processing during transcription, perhaps at sites of DNA repair, and they reveal an unanticipated integration of diverse nuclear events. PMID:10477523

Kleiman, F E; Manley, J L

1999-09-01

343

Young Stars in NGC 6231 and the Sco OB1 Association  

NASA Astrophysics Data System (ADS)

NGC 6231 is a young cluster in the southern sky, around 3-5 Myr old, located at a distance of about 1.6 kpc at the near side of the Sagittarius spiral arm. It forms the nucleus of the extended Sco OB1 association. The cluster is very rich, with more than 100 massive stars, among them 15 O-stars. Radial velocity studies have revealed a very large binary fraction among these OB stars. The young low-mass population has recently been identified using deep X-ray observations. Within the large HII region Gum 55 that surrounds NGC 6231 there exists a major elephant trunk, which shows evidence for recent second-generation star formation in the form of young B-stars surrounded by reflection nebulae and a number of low-mass H? emission stars.

Reipurth, B.

2008-12-01

344

A new association of multiple congenital anomalies/mental retardation syndrome with bradycardia-tachycardia syndrome: a case report  

PubMed Central

Introduction Congenital bradycardia-tachycardia syndrome is a rare disorder. Its association with multiple congenital anomalies/mental retardation (MCA/MR) syndrome is exceptional. Case presentation We report a case of a new association of MCA/MR with bradycardia-tachycardia syndrome in an 18-year-old Indian man. This syndrome is characterized by mental retardation with delayed development of milestones, progressive scoliosis, cryptorchidism, asymmetrical limbs involving both the upper and lower limbs, sleep apnea syndrome, bradycardia-tachycardia syndrome and Dandy-Walker syndrome. Our patient was admitted for septoplasty with adenoidectomy. Patients with MCA/MR with bradycardia-tachycardia syndrome pose a unique challenge to the anesthesiologist. Establishing a good rapport with these patients is imperative. In addition to that, the anesthesiologist should anticipate the difficulty in intubation and rhythm abnormalities during the peri-operative period. Bradycardia or sinus arrest is a well-known complication during the induction and maintenance of anesthesia. Lignocaine should be used with caution in patients with bradycardia-tachycardia syndrome. Monitoring of ventilation parameters (end-tidal CO2, SPO2, airway pressure) is essential as these patients are prone to develop pulmonary artery hypertension secondary to sleep apnea syndrome. Conclusion Based on our clinical experience in detailed pre-operative evaluation and planning, we would emphasize peri-operative anticipation and monitoring for dysrhythmias in patients with MCA/MR and bradycardia-tachycardia syndrome undergoing any surgical procedure.

2009-01-01

345

Microduplications of 1q32.1 associated with neurodevelopmental delay  

PubMed Central

Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay.[1–11] To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two microduplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome.

Olson, HE; Shen, Y; Poduri, A; Gorman, MP; Dies, KA; Robbins, M; Hundley, R; Wu, B; Sahin, M

2012-01-01

346

Medium-term open label trial of L-carnitine in Rett syndrome  

Microsoft Academic Search

Treatment strategies in Rett syndrome so far have been essentially symptomatic and supportive. In order to establish the medium-term effects of L-carnitine, an open label trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. Compared with the Rett syndrome controls, treatment

Carolyn J Ellaway; Jennifer Peat; Katrina Williams; Helen Leonard; John Christodoulou

2001-01-01

347

Co-occurrence of 22q11 deletion syndrome and hdr syndrome.  

PubMed

22q11 deletion syndrome is one of the most common chromosomal deletion syndromes and is usually caused by a 1.5-3.0?Mb deletion at chromosome 22q11.2. It is characterized by hypocalcemia resulting from hypoplasia of the parathyroid glands, hypoplasia of the thymus, and defects of the cardiac outflow tract. We encountered a Japanese boy presenting with an unusually severe phenotype of 22q11 deletion syndrome, including progressive renal failure and severe intellectual disabilities. Diagnostic testing using fluorescent in situ hybridization revealed deletion of the 22q11 region, but this did not explain the additional complications. Copy number analysis was therefore performed using whole genome single nucleotide polymorphism (SNP) assay, which identified an additional de novo deletion at 10p14. This region is the locus for hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome caused by haploinsufficiency of GATA3. Together, these two syndromes sufficiently explain the patient's phenotype. This is the first known case report of the co-occurrence of 22q11 deletion syndrome and HDR syndrome. As the two syndromes overlap clinically, this study indicates the importance of carrying out careful clinical and genetic assessment of patients with atypical clinical phenotypes or unique complications. Unbiased genetic analysis using whole genome copy number SNP arrays is especially useful for detecting such rare double mutations. © 2013 Wiley Periodicals, Inc. PMID:23918631

Fukai, Ryoko; Ochi, Nobuhiko; Murakami, Akira; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko

2013-08-05

348

Gorlin-goltz syndrome.  

PubMed

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

2012-10-03

349

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.

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

2012-01-01

350

Sleep Laboratory Diagnosis of Restless Legs Syndrome  

Microsoft Academic Search

Polysomnographic recordings and the Suggested Immobilization Test (SIT) are frequently used to support the clinical diagnosis of restless legs syndrome (RLS). The present study evaluated the discriminant power of 5 different parameters: (1) index of periodic leg movements during sleep (PLMS), (2) index of PLMS with an associated microarousal (PLMS-arousal), (3) index of PLM during nocturnal wakefulness (PLMW), (4) SIT

Martin Michaud; Jean Paquet; Gilles Lavigne; Alex Desautels; Jacques Montplaisir

2002-01-01

351

Kleine-Levin syndrome: current status.  

PubMed

Kleine-Levin Syndrome is a periodic hypersomnia characterized by recurrent episodes of hypersomnia and other symptoms. This article reviews the research to date, outlines the clinical symptoms, and describes current testing and treatment. It concludes that the cause remains unknown and no treatment is effective in preventing recurrence, although modafinil may reduce duration of symptomatic episode. PMID:20451032

Huang, Yu-Shu; Lakkis, Clair; Guilleminault, Christian

2010-05-01

352

Periodically oscillating plasma sphere  

SciTech Connect

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 high densities and temperatures during the collapse phase of the oscillation. A requirement for POPS is that the electron injection produces a stable harmonic oscillator potential. This has been demonstrated in a gridded inertial electrostatic confinement device and verified by particle simulation. Also, the POPS oscillation has been confirmed experimentally through observation that the ions in the potential well exhibit resonance behavior when driven at the POPS frequency. Excellent agreement between the observed POPS frequencies and the theoretical predictions has been observed for a wide range of potential well depths and three different ion species. Practical applications of POPS require large plasma compressions. These large compressions have been observed in particle simulations, although space charge neutralization remains a major issue.

Park, J.; Nebel, R.A.; Stange, S.; Murali, S. Krupakar [Los Alamos National Laboratory, Los Alamos, New Mexico 87544 (United States); University of Wisconsin, Madison, Wisconsin 53706 (United States)

2005-05-15

353

Latent Periodicities in Genome Sequences  

Microsoft Academic Search

A novel approach is presented for the detection of periodicities in DNA sequences. A DNA sequence can be modelled as a nonstationary stochastic process that exhibits various statistical periodicities over different regions. The coding part of the DNA, for instance, exhibits statistical periodicity with period three. Such regions in DNA are modelled as generated from a collection of information sources

Raman Arora; William A. Sethares; James A. Bucklew

2008-01-01

354

Voronoi Diagrams on Periodic Graphs  

Microsoft Academic Search

A periodic graph models various natural and artificial periodic patterns with repetitions of a given static graph, and have vast applications in crystallography, scheduling, VLSI circuits and systems of uniform recurrence equations. This paper considers a graph Voronoi diagram for a given subset of vertices on a periodic graph. The simplest two-dimensional periodic graph is a square lattice, and the

Norie Fu; Hiroshi Imai; Sonoko Moriyama

2010-01-01

355

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…

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

2012-01-01

356

Schimmelpenning syndrome.  

PubMed

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; Araujo, Catarina; Vieira, Ana Paula; Ventura, Filipa; Brito, Celeste

2013-10-16

357

Asherman's syndrome.  

PubMed

Asherman's syndrome is being diagnosed with increasing frequency. Although it usually occurs following curettage of the pregnant or recently pregnant uterus, any uterine surgery can lead to intrauterine adhesions (IUA). Most women with IUA have amenorrhea or hypomenorrhea, but up to a fourth have painless menses of normal flow and duration. Those who have amenorrhea may also have cyclic pelvic pain caused by outflow obstruction. The accompanying retrograde menstruation may lead to endometriosis. In addition to abnormal menses, infertility and recurrent spontaneous abortion are common complaints. Hysteroscopy is the standard method to both diagnose and treat this condition. Various techniques for adhesiolysis and for prevention of scar reformation have been advocated. The most efficacious appears to be the use of miniature scissors for adhesiolysis and the placement of a balloon stent inside the uterus immediately after surgery. Postoperative estrogen therapy is prescribed to stimulate endometrial regrowth. Follow-up studies to assure resolution of the scarring are mandatory before the patient attempts to conceive as is careful monitoring of pregnancies for cervical incompetence, placenta accreta, and intrauterine growth retardation. PMID:21437822

March, Charles M

2011-03-24

358

Extensive multiarterial resection attending total duodenopancreatectomy and adrenalectomy for MEN-1-associated neuroendocrine carcinomas  

PubMed Central

Pancreatic neuroendocrine tumors (PNTs) are relatively uncommon although these neoplasms have been noted to grow in occurrence in recent decades. Surgical removal of locally advanced PNTs involving major vessels and adjacent organs is warranted by reason of an appreciably more favorable prognosis as compared to exocrine pancreas cancer. We are reporting a case of successful multi-organ resection combined with a wide excision of the superior mesenteric, common, proper, left and right hepatic arteries (in the presence of the hepatomesenteric trunk variant of aberrant arterial anatomy) for multifocal PNTs in the setting of multiple neuroendocrine neoplasia type 1 syndrome. The procedure resulted in pain abolition, a significant improvement in the patient’s life quality and allowed her to return to work. Follow-up computed tomography at 15 mo post-surgery showed no evidence of disease recurrence.

Egorov, Vyacheslav Ivanovich; Kharazov, Alexander Felixovich; Pavlovskaya, Alla Ivanovna; Petrov, Roman Valeryevich; Starostina, Natalia Sergeevna; Kondratiev, Eugeny Valerievich; Filippova, Ekaterina Mikhailovna

2012-01-01

359

Epidermal nevus syndromes.  

PubMed

A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling. PMID:7640190

Happle, R

1995-06-01

360

Radio rotation period of jupiter.  

PubMed

The results of observations of Jupiter at 18 megacycles per second indicate that the apparent rotation period drifts cyclically about a constant mean value. The most probable drift period appears to be 11.9 years, Jupiter's orbital period. The mean rotation period during one orbital period is about 0.3 second longer than that of the system III (1957.0) period. This is in close agreement with the rotation period deduced from decimetric observations and probably represents the true rotation period of the magnetic field. The cyclic drift in the rotation period of source A at 18 megacycles per second is explained on the basis of beaming of the escaping radiation at an angle 6 degrees north of the magnetic equator. The apparent rotation period of source A depends on the rate of change of the Jovicentric declination of Earth. PMID:17810304

Gulkis, S; Carr, T D

1966-10-14

361

Erythrocyte disorders in the perinatal period.  

PubMed

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

2007-08-01

362

Ellis-van Creveld syndrome.  

PubMed

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, Geneviève; Le Merrer, Martine

2007-06-04

363

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.

Baujat, Genevieve; Le Merrer, Martine

2007-01-01

364

Fragile X Syndrome.  

ERIC Educational Resources Information Center

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

de la Cruz, Felix F.

1985-01-01

365

Yellow nail syndrome (image)  

MedlinePLUS

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

366

Post-Polio Syndrome  

MedlinePLUS

... for post-polio syndrome. Causes CLICK TO ENLARGE Nerve cell (neuron) Nobody knows exactly what causes the signs ... polio syndrome rests on the idea of degenerating nerve cells. When poliovirus infects your body, it affects nerve ...

367

HAMARTOMATOUS POLYPOSIS SYNDROMES  

PubMed Central

Synopsis Since the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk.

Calva, Daniel; Howe, James R.

2009-01-01

368

Solitary Rectal Ulcer Syndrome  

MedlinePLUS

Solitary rectal ulcer syndrome Basics Multimedia Resources Reprints A single copy of this article may be reprinted for personal, noncommercial use only. Solitary rectal ulcer syndrome By Mayo Clinic staff Original Article: http:// ...

369

Marfan syndrome (image)  

MedlinePLUS

Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

370

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... Diseases Division of High-Consequence Pathogens and Pathology Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome (HPS) is a rare but severe, ... respiratory disease in humans caused by infection with hantavirus. What are the symptoms of HPS? Early Symptoms: • ...

371

Fetal Alcohol Syndrome  

MedlinePLUS

Fetal alcohol syndrome Basics In-Depth Resources Reprints A single copy of this article may be reprinted for personal, noncommercial use only. Fetal alcohol syndrome By Mayo Clinic staff Original Article: http:// ...

372

ADHD & Down Syndrome  

MedlinePLUS

... 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 ...

373

Ectopic Cushing syndrome  

MedlinePLUS

... pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... Cushing syndrome is caused by tumors that release adrenocorticotropic hormone (ACTH). Other causes of Cushing syndrome are: Excess ...

374

Toxic Shock Syndrome  

MedlinePLUS

Toxic shock syndrome Basics In-Depth Resources Reprints A single copy of this article may be reprinted for personal, noncommercial use only. Toxic shock syndrome By Mayo Clinic staff Original Article: ...

375

Munchausen syndrome by proxy  

MedlinePLUS

Munchausen syndrome by proxy is a form of child abuse in which a parent induces real or apparent ... offered help. Because this is a form of child abuse, the syndrome must be reported to the authorities. ...

376

Riley-Day syndrome  

MedlinePLUS

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

377

Obesity Hypoventilation Syndrome  

MedlinePLUS

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

378

Fragile X syndrome  

MedlinePLUS

... the type and severity of symptoms. Recurrent infections in children Seizure disorder Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.

379

Monozygotic twins concordant for Kleine-Levin syndrome  

PubMed Central

Background Kleine-Levin syndrome is a rare sleep disorder of unknown etiology. It is characterized by intermittent periods of excessive sleepiness, cognitive disturbances and behavioral abnormalities. Nine cases of familial Kleine-Levin syndrome have been identified, but there are no reported cases describing twins that are affected by the syndrome. Case presentation We report the cases of 16-year-old monozygotic twin boys who both suffered from Kleine-Levin syndrome. In both cases, the onset of the first episode was preceded by an influenza infection. During symptomatic periods they slept for the entire day except for meals and bathroom visits. Actimetry recordings revealed that during symptomatic periods, daily activity was lower than that of asymptomatic periods, on the other hand, activity during the night was significantly higher in symptomatic periods than asymptomatic periods. Polysomnography (PSG) data during symptomatic periods revealed a decrease in sleep efficiency. Human leukocyte antigen (HLA) typing revealed no DQB1*02 loci. They were administered lithium carbonate but the beneficial effect was limited. Conclusions Our observations suggest that Kleine-Levin syndrome may be due to genetic and autoimmune processes, although etiologic relationship to specific HLA type remains controversial.

2012-01-01

380

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

PubMed Central

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.

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

2009-01-01

381

Human BRCA1-associated breast cancer: no increase in numerical chromosomal instability compared to sporadic tumors.  

PubMed

BRCA1 is a major gatekeeper of genomic stability. Acting in multiple central processes like double-strand break repair, centrosome replication, and checkpoint control, BRCA1 participates in maintaining genomic integrity and protects the cell against genomic instability. Chromosomal instability (CIN) as part of genomic instability is an inherent characteristic of most solid tumors and is also involved in breast cancer development. In this study, we determined the extent of CIN in 32 breast cancer tumors of women with a BRCA1 germline mutation compared to 62 unselected breast cancers. We applied fluorescence in situ hybridization (FISH) with centromere-specific probes for the chromosomes 1, 7, 8, 10, 17, and X and locus-specific probes for 3q27 (BCL6), 5p15.2 (D5S23), 5q31 (EGR1), 10q23.3 (PTEN), and 14q32 (IGH@) on formalin-fixed paraffin-embedded tissue microarray sections. Our hypothesis of an increased level of CIN in BRCA1-associated breast cancer could not be confirmed by this approach. Surprisingly, we detected no significant difference in the extent of CIN in BRCA1-mutated versus sporadic tumors. The only exception was the CIN value for chromosome 1. Here, the extent of CIN was slightly higher in the group of sporadic tumors. PMID:22024613

Focken, T; Steinemann, D; Skawran, B; Hofmann, W; Ahrens, P; Arnold, N; Kroll, P; Kreipe, H; Schlegelberger, B; Gadzicki, D

2011-10-24

382

The Nonthyroidal Illness Syndrome  

Microsoft Academic Search

The evaluation of altered thyroid function parameters in systemic illness and stress remains complex because changes occur at all levels of the hypotha- lamic-pituitary-thyroid axis. The so-called ''nonthyroidal illness syndrome,'' also known as the low T3 syndrome or euthyroid sick syndrome, is not a true syndrome but rather reflects alterations in thyroid function tests in a variety of clinical situations

Suzanne Myers Adler; Leonard Wartofsky

2007-01-01

383

Management of Brown syndrome.  

PubMed

Brown syndrome is a challenging management problem. Congenital Brown syndrome may show spontaneous resolution, and conservative management is successful in around 75% of cases. Inflammatory acquired Brown syndrome may respond to peri-trochlear injection of steroids or oral non-steroidal inflammatory agents. Post-traumatic acquired Brown syndrome is not as common as it was in the "pre-seat belt" era. Surgical management can be undertaken, but results are disappointing. PMID:19085429

Lee, John

384

Small Bowel Polyposis Syndromes  

Microsoft Academic Search

Intestinal polyposis syndromes are relatively rare. However, it is important for clinicians to recognize the potential risks\\u000a of these syndromes. Based on histology, these syndromes can be classified mainly into hamartomatous polyposis syndromes and\\u000a familial adenomatous polyposis (FAP), which affects mainly the large intestine. This review discusses the clinical manifestations\\u000a and underlying genetics of the most common small intestinal polyposis

Nadir Arber; Menachem Moshkowitz

385

Periodic limb movements in sleep: to treat or not to treat?  

Microsoft Academic Search

Background: Approximately 50% of our patients with sleep disturbances have periodic limb movements in sleep (PLMS). We have found that a high PLMS index is not correlated with the severity of symptoms on the Epworth Sleepiness Scale or response to pharmacologic therapy for restless legs syndrome (RLS)\\/PLMS. We hypothesized that differences in rhythm of contraction, predominance of periodic leg movements

L Leissner; M Sandelin

2002-01-01

386

Period Evolution in Mira Variables  

NASA Astrophysics Data System (ADS)

We investigate a number of Mira variables which show evolution in their periods. Three different types of period changes are found: continuous changes, sudden changes, and meandering periods. On the order of 1% of Miras show evidence for period changes, but unstable periods may be common among the longest period Miras. The case of R Hya is studied in more detail, using archived data from AAVSO, AFOEV, BAAVSS, RASNZ, and VSOLJ, and historical records: we find that its period evolved from almost 500 days around its discovery (AD 1662) to about 385 days since AD 1950. The period change was accompanied by a dramatic change in its mass-loss rate. Such changes in mass-loss rates, especially for the Miras with meandering periods, could be one of the causes of the rings seen around many descendents of Mira variables, the planetary nebulae.

Zijlstra, Albert A.; Bedding, Timothy R.

387

Periodic leg movements and sleep-disordered breathing in children  

Microsoft Academic Search

SummaryObjective  Children with OSAS (obstructive sleep apnea syndrome) have a restless sleep. Furthermore they show a changed daytime behavior comparable with attention deficit hyperactivity disorder (ADHD). We investigated the prevalence of periodic leg movements in sleep in OSAS patients to answer the question whether OSAS can be misinterpreted by insufficient diagnostics for example actigraphy alone.Methods  25 children who had no OSAS (controls)

Sabine Scholle; Hans-Christoph Scholle; Gerhard Zwacka

2001-01-01

388

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 Højbjerg Gravholt; Svend Juul; Rune Weis Naeraa; Jan Hansen

1998-01-01

389

Restless Legs Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong ... and to find better treatments. Rate This Content: Restless Legs Syndrome Clinical Trials Clinical trials are research studies that ...

390

Triple A syndrome.  

PubMed

Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder consisting of achalasia, alacrima and Addison insufficiency. We report an 11-year-old girl with predominant symptom of achalasia who was diagnosed as Triple A syndrome almost 3 years after initial presentation. PMID:16361769

Bharadia, Lalit; Kalla, Mukesh; Sharma, S K; Charan, Rohit; Gupta, J B; Khan, Firoz

391

Childhood Nephrotic Syndrome  

MedlinePLUS

... Top ] Points to Remember Nephrotic syndrome is a set of signs or symptoms that may point to kidney problems. Childhood nephrotic syndrome is most common between the ages of 1½ and 5 years. Nephrotic syndrome causes proteinuria, low levels of protein in the blood, less frequent urination, and swelling ...

392

Syndrome des brides amniotiques  

Microsoft Academic Search

Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in

B. Poeuf; P. Samson; G. Magalon

2008-01-01

393

[Wolf-Hirschhorn syndrome].  

PubMed

We refer about two children with Wolf-Hirschhorn's syndrome or syndrome with partial deletion of short arm of chromosome number 4. The diagnosis was possible with an accurate estimation of phenotype. Cytogenetics examination showed the chromosomal aberration typical for this syndrome. PMID:3837207

Vivarelli, R; Scarinci, R; Conti, G; Anichini, C

394

First bite syndrome.  

PubMed

Based on a review of the indexed medical literature (PubMed database), the authors describe the clinical features leading to the diagnosis of first bite syndrome, the pathophysiology of this syndrome and analyse the various treatment options available to otorhinolaryngologists to manage this syndrome. PMID:23890788

Laccourreye, O; Werner, A; Garcia, D; Malinvaud, D; Tran Ba Huy, P; Bonfils, P

2013-07-23

395

Familial Crouzon syndrome  

PubMed Central

Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

Samatha, Y.; Vardhan, T. Harsha; Kiran, A. Ravi; Sankar, A.J. Sai; Ramakrishna, B.

2010-01-01

396

Fast Periodic Interpolation Method for Periodic Unit Cell Problems  

Microsoft Academic Search

A fast periodic interpolation method (FPIM) is presented for rapidly computing fields in a unit cell of an infinitely periodic array. For low and moderate frequencies (for unit cells smaller than or on the order of the wavelength) the FPIM has the computational cost of O(N) and it requires only O(1) periodic Green's function (PGF) evaluations, for N sources and

Shaojing Li; Derek A. Van Orden; Vitaliy Lomakin

2010-01-01

397

Positive Periodic Solutions for Nonlinear Difference Equations with Periodic Coefficients  

Microsoft Academic Search

We prove the existence of positive solutions of second-order nonlinear difference equations on a finite discrete segment with periodic boundary conditions. Obtained results yield positive periodic solutions of the equation on the whole discrete axis, provided that the coefficients are periodic.

F. Merdivenci Atici; G. Sh. Guseinov

1999-01-01

398

Do you know this syndrome?*  

PubMed Central

Cowden's disease or multiple hamartoma syndrome is an autosomal dominant inherited disease and the main dermatological features are facial trichilemmomas (hamartomas of the follicular infundibula), oral fibroma and benign acral keratoses. The importance of this disease lays in the increased susceptibility to malignization of some lesions, especially breast, thyroid and genitourinary tract. Despite its varied phenotypic expression, this disease is generally unknown. Consequently, many cases are undiagnosed or diagnosis comes at a late stage, which reinforces the importance of an early investigation of the disease so the patient may have periodic check-ups to discover and treat malignancies.

Meotti, Carolina Degen; Pulga, Raquel Fonseca Ferreira da Silva; Fernandes, Karen de Almeida Pinto; de Gusmao, Paula Regazzi; Fernandes, Karina de Almeida Pinto; Rocha, Ana Rita

2013-01-01

399

ChemTeacher: Periodic Trends  

NSDL National Science Digital Library

ChemTeacher compiles background information, videos, articles, demonstrations, worksheets and activities for high school teachers to use in their classrooms. The Periodic Trends page includes resources for teaching students about trends found in the periodic table.

2011-01-01

400

Period evolution in Mira variables  

NASA Astrophysics Data System (ADS)

We investigate a number of Mira variables which show evolution in their periods. Three different type of period changes are found: continuous evolution, sudden changes and meandering periods. Of the order of 1% of Miras show evidence for period changes, but unstable periods may be common among the longest period Miras. In the case of R Hya, the period change was accompanied by a dramatic change in mass-loss rate, consistent with the mass-loss formalism of Vassiliadis & Wood. Their formalism then predicts that the mass-loss rates of the longest period Miras (P>400 days) may fluctuate by a factor of 2-3 over time scales of a century.

Zijlstra, Albert A.; Matsuura, Mikako; Bedding, Timothy R.

2003-04-01

401

MUC1-associated proliferation signature predicts outcomes in lung adenocarcinoma patients  

PubMed Central

Background MUC1 protein is highly expressed in lung cancer. The cytoplasmic domain of MUC1 (MUC1-CD) induces tumorigenesis and resistance to DNA-damaging agents. We characterized MUC1-CD-induced transcriptional changes and examined their significance in lung cancer patients. Methods Using DNA microarrays, we identified 254 genes that were differentially expressed in cell lines transformed by MUC1-CD compared to control cell lines. We then examined expression of these genes in 441 lung adenocarcinomas from a publicly available database. We employed statistical analyses independent of clinical outcomes, including hierarchical clustering, Student's t-tests and receiver operating characteristic (ROC) analysis, to select a seven-gene MUC1-associated proliferation signature (MAPS). We demonstrated the prognostic value of MAPS in this database using Kaplan-Meier survival analysis, log-rank tests and Cox models. The MAPS was further validated for prognostic significance in 84 lung adenocarcinoma patients from an independent database. Results MAPS genes were found to be associated with proliferation and cell cycle regulation and included CCNB1, CDC2, CDC20, CDKN3, MAD2L1, PRC1 and RRM2. MAPS expressors (MAPS+) had inferior survival compared to non-expressors (MAPS-). In the initial data set, 5-year survival was 65% (MAPS-) vs. 45% (MAPS+, p < 0.0001). Similarly, in the validation data set, 5-year survival was 57% (MAPS-) vs. 28% (MAPS+, p = 0.005). Conclusions The MAPS signature, comprised of MUC1-CD-dependent genes involved in the control of cell cycle and proliferation, is associated with poor outcomes in patients with adenocarcinoma of the lung. These data provide potential new prognostic biomarkers and treatment targets for lung adenocarcinoma.

2010-01-01

402

Multiple TORC1-Associated Proteins Regulate Nitrogen Starvation-Dependent Cellular Differentiation in Saccharomyces cerevisiae  

PubMed Central

Background The budding yeast Saccharomyces cerevisiae undergoes differentiation into filamentous-like forms and invades the growth medium as a foraging response to nutrient and environmental stresses. These developmental responses are under the downstream control of effectors regulated by the cAMP/PKA and MAPK pathways. However, the upstream sensors and signals that induce filamentous growth through these signaling pathways are not fully understood. Herein, through a biochemical purification of the yeast TORC1 (Target of Rapamycin Complex 1), we identify several proteins implicated in yeast filamentous growth that directly associate with the TORC1 and investigate their roles in nitrogen starvation-dependent or independent differentiation in yeast. Methodology We isolated the endogenous TORC1 by purifying tagged, endogenous Kog1p, and identified associated proteins by mass spectrometry. We established invasive and pseudohyphal growth conditions in two S. cerevisiae genetic backgrounds (?1278b and CEN.PK). Using wild type and mutant strains from these genetic backgrounds, we investigated the roles of TORC1 and associated proteins in nitrogen starvation-dependent diploid pseudohyphal growth as well as nitrogen starvation-independent haploid invasive growth. Conclusions We show that several proteins identified as associated with the TORC1 are important for nitrogen starvation-dependent diploid pseudohyphal growth. In contrast, invasive growth due to other nutritional stresses was generally not affected in mutant strains of these TORC1-associated proteins. Our studies suggest a role for TORC1 in yeast differentiation upon nitrogen starvation. Our studies also suggest the CEN.PK strain background of S. cerevisiae may be particularly useful for investigations of nitrogen starvation-induced diploid pseudohyphal growth.

Laxman, Sunil; Tu, Benjamin P.

2011-01-01

403

Prostatic Cell-Specific Regulation of the Synthesis of MUC1-Associated Sialyl Lewis a  

PubMed Central

Sialyl Lewis antigens are selectin ligands involved in leukocyte trafficking and cancer metastasis. Biosynthesis of these selectin ligands occurs by the sequential actions of several glycosyltransferases in the Golgi apparatus following synthesis of the protein backbone in the endoplasmic reticulum. In this study, we examine how the synthesis of sialyl Lewis a (sLea) is regulated in prostatic cells and identify a mucin that carries this glycotope. We treat human prostatic cells including one normal and three cancerous cells with histone deacetylase inhibitors, valproic acid, tricostatin A (TSA), and suberoylanilide hydroxamic acid (SAHA), and then monitor the expression of sLea. We have found that SAHA enhances the production of sLea in normal prostatic RWPE-1 cells but not prostatic cancer cells. Employing siRNA technology and co-immunoprecipitation, we show that the sLea is associated with MUC1, which is confirmed by confocal immunofluorescence microscopy and proximity ligation assay. The SAHA-induced production of sLea in RWPE-1 cells is resulted from upregulation of B3GALT1 gene via enhancement of acetylated histone-3 and histone-4. Interestingly, PC3 and LNCaP C-81 cells do not produce detectable amounts of sLea despite expressing high levels of B3GALT1. However, the MUC1-associated sLea is generated in these cells after introduction of MUC1 cDNA. We conclude that the synthesis of sLea is controlled by not only peptide backbone of the glycoprotein but also glycoprotein-specific glycosyltransferases involved in the synthesis of sLea. Further, the SAHA induction of this selectin ligand in normal prostatic cells may pose a potentially serious side effect of this drug recently approved by the US Food and Drug Administration.

Chachadi, Vishwanath B.; Ali, Mohamed F.; Cheng, Pi-Wan

2013-01-01

404

Behcet's Syndrome.  

PubMed

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

2012-12-01

405

Progressive chromatin repression and promoter methylation of CTNNA1 associated with advanced myeloid malignancies  

PubMed Central

Complete loss or deletion of the long arm of chromosome 5 is frequent in myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). The putative gene(s) deleted and responsible for the pathogenesis of these poor prognosis hematological disorders remain controversial. This study is a comprehensive analysis of previously implicated and novel genes for epigenetic inactivation in AML and MDS. In 146 AML cases, methylation of CTNNA1 was frequent, and more common in AML patients with 5q deletion (31%) than those without 5q deletion (14%), while no methylation of other 5q genes was observed. In 31 MDS cases, CTNNA1 methylation was only found in high risk MDS (?RAEB2), but not in low risk MDS (

Ye, Ying; McDevitt, Michael A.; Guo, Mingzhou; Zhang, Wei; Galm, Oliver; Gore, Steven D.; Karp, Judith E.; Maciejewski, Jaroslaw P.; Kowalski, Jeanne; Tsai, Hua-Ling; Gondek, Lukasz P.; Tsai, Hsing-Chen; Wang, Xiaofei; Hooker, Craig; Smith, B. Douglas; Carraway, Hetty E.; Herman, James G.

2011-01-01

406

Initiation codon mutation in ?B1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract  

PubMed Central

Purpose To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. Methods An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing. Results The SNP microarray data demonstrated a 24.96 Mb region of homozygosity at 22q11.21-22q13.2 which was confirmed by microsatellite marker analysis. The candidate target region contained the ?-crystallin gene cluster and direct sequencing in affected family members revealed a novel mutation in CRYBB1 (c.2T>A; p.Met1Lys). Conclusions To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.

Meyer, Esther; Rahman, Fatimah; Owens, Jessica; Pasha, Shanaz; Morgan, Neil V.; Trembath, Richard C.; Stone, Edwin M.; Moore, Anthony T.

2009-01-01

407

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.

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

2010-01-01

408

Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link  

PubMed Central

Introduction. Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and often coexists with other autoimmune diseases, but Hashimoto's thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare. Case Presentation. A 30-year-old Bengali woman presented to the OPD with complaints of aching pain and tingling sensation in her hands and feet. Physical examination revealed dysmorphic facies, nodular swelling in the neck, cafe-au-lait spots, and neurofibromas covering the entire surface of her body. Her thyroid hormones were within normal limits. Thyroid ultrasound revealed a cystic area in the left lobe of the gland, and ultrasound-guided fine needle aspiration cytology revealed lymphocytic infiltration of the gland, suggesting Hashimoto's thyroiditis. High levels of autoimmune antibodies such as antithyroglobulin and antimicrosomal antibodies confirmed the diagnosis. Conclusion. When encountered with a patient of Neurofibromatosis type 1, a physician should be careful about the possibility of a concomitant autoimmune disease. Clinical presentation of neurofibromatosis and Noonan syndrome often overlaps and recent studies have implicated a mutation in NF1 gene in the etiology of NFNS. More extensive reports and further investigations of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future.

Nabi, Junaid

2013-01-01

409

Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link.  

PubMed

Introduction. Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and often coexists with other autoimmune diseases, but Hashimoto's thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare. Case Presentation. A 30-year-old Bengali woman presented to the OPD with complaints of aching pain and tingling sensation in her hands and feet. Physical examination revealed dysmorphic facies, nodular swelling in the neck, cafe-au-lait spots, and neurofibromas covering the entire surface of her body. Her thyroid hormones were within normal limits. Thyroid ultrasound revealed a cystic area in the left lobe of the gland, and ultrasound-guided fine needle aspiration cytology revealed lymphocytic infiltration of the gland, suggesting Hashimoto's thyroiditis. High levels of autoimmune antibodies such as antithyroglobulin and antimicrosomal antibodies confirmed the diagnosis. Conclusion. When encountered with a patient of Neurofibromatosis type 1, a physician should be careful about the possibility of a concomitant autoimmune disease. Clinical presentation of neurofibromatosis and Noonan syndrome often overlaps and recent studies have implicated a mutation in NF1 gene in the etiology of NFNS. More extensive reports and further investigations of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future. PMID:23691379

Nabi, Junaid

2013-04-18

410

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: shinya@hiroshima-u.ac.jp

2007-11-03

411

Schmidt's syndrome - Case report  

PubMed Central

When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had primary adrenal insufficiency, autoimmune hypothyroidism and insulin dependent diabetes mellitus and was diagnosed as "Schmidt's syndrome" (PGA type II). This syndrome is a very rare autoimmune disorder and difficult to diagnose because the symptoms of this syndrome depends on the gland which gets involved first. Our patient was treated and improved with corticosteroid, thyroxine and insulin therapy.

Gupta, Amit Narayan; Nagri, Shivashankara Kaniyoor

2012-01-01

412

Fat embolism syndrome  

PubMed Central

Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good.

George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

2013-01-01

413

The lax eyelid syndrome.  

PubMed Central

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

van den Bosch, W A; Lemij, H G

1994-01-01

414

Fat embolism syndrome.  

PubMed

Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

George, Jacob; George, Reeba; Dixit, R; Gupta, R C; Gupta, N

2013-01-01

415

Syndromic Surveillance at the New York State Veterinary Diagnostic Laboratory  

PubMed Central

Objective To assess the use and utility of a syndrome check list on the general submission form of a high volume veterinary diagnostic laboratory, and compare to the results of a 2009 pilot study. Introduction The New York State Veterinary Diagnostic Laboratory (NYSVDL) receives more than 100,000 diagnostic submissions a year that are not currently used in any formal syndromic surveillance system. In 2009, a pilot study of syndrome classification schemes was undertaken and in 2011 a new general submission form was adopted, which includes a check list of syndromes, as part of the clinical history. Monitoring submissions to a veterinary diagnostic laboratory for increases in certain test requests is an established method of syndromic surveillance (1, 2). The new general submission form allows for clinician selected syndromes to be monitored in addition to test request. Methods We selected 420 “contract cases” from all submissions for bovines since the implementation of the new form, May 2011, though February 2012. Submissions were reviewed for use of the new form, use of the syndrome check list and tests requested. Test requests were assigned syndromes, if possible, to allow for comparison with the clinician selected syndromes. The selection of cases was weighted towards the end of the period as use of the new form increased with time and to a lesser extent toward the beginning of the period in an attempt to find any early use of the form. “Contract case” refers to New York State Department of Agriculture and Markets subsidization of agricultural animal and herd health testing done under specific guidelines. The benefit of “contract cases” is the guidelines require a complete clinical history, which should include selection of syndromes. Finally, selection was limited bovine submissions as was done in the pilot study. Results 16% (69/420) of submissions used the new form and of these 23 selected syndromes. As was seen in the pilot study the most commonly occurring syndrome in the clinical history was “Gastrointestinal/Diarrhea” 56% (13/23). The next most common syndromes were “Respiratory” (7/23), “Sudden Death” (6/23) and “Fever” (4/23). Syndromes assigned based on test request followed a similar pattern with “Gastrointestinal/Diarrhea” (166/254) and “Respiratory” (52/254) best represented. An important difference was the syndromes “Sudden Death” and “Fever”, which were never assigned to a test request. These syndromes represent a new source of information for surveillance. These results fit well with the pilot study which found the clinical history was typically incomplete but contained additional information for syndromic surveillance that was not available from monitoring the test request alone and that monitoring syndromes or test requests alone would provide incomplete information nearly a third of the time. Conclusions We found monitoring syndromes, in addition to test requests, to be useful and necessary for completeness. Monitoring clinical history provided additional information not available from test requests alone. We recommend the syndromes “Sudden Death” and “Fever” be monitored as these syndromes always provided additional information not available in test requests. Other syndromes that provide new information should be investigated across species and in various clinical scenarios. Accumulating baseline data for all syndromes is recommended to create more accurate models for syndromic surveillance and improve data retrieval for retrospective studies. Despite poor use of the new general submission form and the syndrome check boxes, future compliance is likely to improve significantly with the implementation of online submission and thanks to the continuous training and consultation provided by the NYSVDL staff.

Wilkins, Kylius; Akey, Bruce; Thompson, Belinda; Nydam, Daryl

2013-01-01

416

Periodicity and the Golden Ratio  

Microsoft Academic Search

We prove a periodicity theorem on words that has strong analogies with the Critical Factorization theorem. The Critical Factorization theorem states, roughly speaking, a connection between local and global periods of a word; the local period at any position in the word is there defined as the shortest repetition (a square) “centered” in that position. We here take into account

Filippo Mignosi; Antonio Restivo; Sergio Salemi

1998-01-01

417

76 FR 297 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

...RM2011-5; Order No. 625] Periodic Reporting AGENCY: Postal Regulatory...analytical methods used in periodic reporting. This action responds...methods approved for use in periodic reporting.\\1\\ Four separate...data from the manual density table to estimate the number of...

2011-01-04

418

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

ERIC Educational Resources Information Center

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

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

2007-01-01

419

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

2008-01-01

420

SUNCT syndrome. A clinical review.  

PubMed

The clinical features of SUNCT syndrome have been reviewed in 21 patients. There were 17 men and 4 women, rendering a clear male preponderance (ratio of 4.25). The mean age at onset was around 51 years. Attacks were experienced mostly in the orbital/periorbital area and always recurred on the same side, with an erratic temporal pattern and remissions of varying lengths. Most attacks were moderate to severe in intensity and burning, electrical, or stabbing in character. The attacks were regularly accompanied by prominent, ipsilateral, conjunctival injection; tearing; and rhinorrhea or nasal obstruction. There were many precipitating mechanisms. Exclusively spontaneous attacks were described in 3 patients. The usual duration of paroxysms ranged from 10 to 60 seconds, Whereas the longest duration varied from 60 to 300 seconds. The frequency of attacks during the symptomatic periods varied from less than 1 attack daily to more than 30 per hour. In the majority of patients, supplementary examinations failed to show any notable abnormality. However, 2 patients were documented to have a symptomatic form of SUNCT, with a vascular malformation in the ipsilateral cerebellopontine angle. A variety of drugs and local anesthetic blockades, inclusive of tic douloureux drugs, were tried, but a persistent, convincingly beneficial effect was generally lacking. SUNCT syndrome is in the differential diagnosis when encountering unilateral, orbital/periorbital headache syndromes. PMID:9150613

Pareja, J A; Sjaastad, O

1997-04-01

421

Pharmacological Treatment for Hepatopulmonary Syndrome  

PubMed Central

Aim. Hepatopulmonary syndrome is a pulmonary dysfunction in the context of liver cirrhosis characterized by arterial deoxygenation. Affected patients have increased morbidity and mortality, and many of them expire before undergoing liver transplantation. Therefore, finding medical therapy as a bridge to transplantation or as a final treatment is necessary. In this study, we aimed to review the current literature about pharmacological options available for treatment of hepatopulmonary syndrome. Methods. A PubMED and Scopus search was conducted in January 2013 on the English literature published in any time period to find human and animal studies reporting pharmacological therapy of hepatopulmonary syndrome. Results. Out of 451 studies, 29 relevant articles were included. The number of patients, type, dose, duration, and mechanism of drugs in these studies was extracted and summarized separately. Most of pharmacologic agents act through inhibition of nitric oxide synthase and reduction in nitric oxide production, inactivation of endothelin-1, and treatment of bacterial translocation and pulmonary angiogenesis. Conclusion. Several drugs have been applied for the treatment of HPS with conflicting results. However, no large randomized trial has been conducted probably due to low number of patients. Multicentered clinical trials are necessary to investigate these drugs.

Eshraghian, Ahad; Kamyab, Amir A'lam; Yoon, Seung Kew

2013-01-01

422

Periodic leg movements in RLS patients as compared to controls: Are there differences beyond the PLM index?  

Microsoft Academic Search

ObjectiveTo characterize periodic leg movements (PLM) and their association with sleep disturbances in drug-free patients with restless legs syndrome (RLS) and healthy subjects without sleep complaints.

Gwendolyn Boehm; Thomas C. Wetter; Claudia Trenkwalder

2009-01-01

423

Brown's syndrome associated with Smith-Magenis syndrome: Case report.  

PubMed

Brown's syndrome is generally an isolated clinical condition. The authors observed a girl with a right Brown's syndrome and a rare condition due to an interstitial deletion of chromosome 17, known as Smith-Magenis syndrome. A wide spectrum of congenital disorders have been reported in Smith-Magenis syndrome, but never Brown's syndrome. PMID:21314509

Salati, R; Marini, G; Degiuli, A; Dalprà, L

1996-01-01

424

Interferon-? Regulates Glutaminase 1 Promoter through STAT1 Phosphorylation: Relevance to HIV-1 Associated Neurocognitive Disorders  

PubMed Central

HIV-1 associated neurocognitive disorders (HAND) develop during progressive HIV-1 infection and affect up to 50% of infected individuals. Activated microglia and macrophages are critical cell populations that are involved in the pathogenesis of HAND, which is specifically related to the production and release of various soluble neurotoxic factors including glutamate. In the central nervous system (CNS), glutamate is typically derived from glutamine by mitochondrial enzyme glutaminase. Our previous study has shown that glutaminase is upregulated in HIV-1 infected monocyte-derived-macrophages (MDM) and microglia. However, how HIV-1 leads to glutaminase upregulation, or how glutaminase expression is regulated in general, remains unclear. In this study, using a dual-luciferase reporter assay system, we demonstrated that interferon (IFN) ? specifically activated the glutaminase 1 (GLS1) promoter. Furthermore, IFN-? treatment increased signal transducer and activator of transcription 1 (STAT1) phosphorylation and glutaminase mRNA and protein levels. IFN-? stimulation of GLS1 promoter activity correlated to STAT1 phosphorylation and was reduced by fludarabine, a chemical that inhibits STAT1 phosphorylation. Interestingly, STAT1 was found to directly bind to the GLS1 promoter in MDM, an effect that was dependent on STAT1 phosphorylation and significantly enhanced by IFN-? treatment. More importantly, HIV-1 infection increased STAT1 phosphorylation and STAT1 binding to the GLS1 promoter, which was associated with increased glutamate levels. The clinical relevance of these findings was further corroborated with investigation of post-mortem brain tissues. The glutaminase C (GAC, one isoform of GLS1) mRNA levels in HIV associated-dementia (HAD) individuals correlate with STAT1 (p<0.01), IFN-? (p<0.05) and IFN-? (p<0.01). Together, these data indicate that both HIV-1 infection and IFN-? treatment increase glutaminase expression through STAT1 phosphorylation and by binding to the GLS1 promoter. Since glutaminase is a potential component of elevated glutamate production during the pathogenesis of HAND, our data will help to identify additional therapeutic targets for the treatment of HAND.

Zhao, Lixia; Huang, Yunlong; Tian, Changhai; Taylor, Lynn; Curthoys, Norman; Wang, Yi; Vernon, Hamilton; Zheng, Jialin

2012-01-01

425

Aquaporin-4 Antibodies Are Not Related to HTLV-1 Associated Myelopathy  

PubMed Central

Introduction The seroprevalence of human T-cell leukemia virus type 1 (HTLV-1) is very high among Brazilians (?1?200). HTLV-1 associated myelopathy or tropical spastic paraparesis (HAM/TSP) is the most common neurological complication of HTLV-1 infection. HAM/TSP can present with an acute/subacute form of longitudinally extensive myelitis, which can be confused with lesions seen in aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorders (NMOSD) on MRI. Moreover, clinical attacks in patients with NMOSD have been shown to be preceded by viral infections in around 30% of cases. Objective To evaluate the frequency of AQP4-Ab in patients with HAM/TSP. To evaluate the frequency of HTLV-1 infection in patients with NMOSD. Patients and Methods 23 Brazilian patients with HAM/TSP, 20 asymptomatic HTLV-1+ serostatus patients, and 34 with NMOSD were tested for AQP4-Ab using a standardized recombinant cell based assay. In addition, all patients were tested for HTLV-1 by ELISA and Western blotting. Results 20/34 NMOSD patients were positive for AQP4-Ab but none of the HAM/TSP patients and none of the asymptomatic HTLV-1 infected individuals. Conversely, all AQP4-Ab-positive NMOSD patients were negative for HTLV-1 antibodies. One patient with HAM/TSP developed optic neuritis in addition to subacute LETM; this patient was AQP4-Ab negative as well. Patients were found to be predominantly female and of African descent both in the NMOSD and in the HAM/TSP group; Osame scale and expanded disability status scale scores did not differ significantly between the two groups. Conclusions Our results argue both against a role of antibodies to AQP4 in the pathogenesis of HAM/TSP and against an association between HTLV-1 infection and the development of AQP4-Ab. Moreover, the absence of HTLV-1 in all patients with NMOSD suggests that HTLV-1 is not a common trigger of acute attacks in patients with AQP4-Ab positive NMOSD in populations with high HTLV-1 seroprevalence.

von Glehn, Felipe; Jarius, Sven; Penalva de Oliveira, Augusto C.; Brandao, Carlos Otavio; Farias, Alessandro S.; Damasceno, Alfredo; Casseb, Jorge; Moraes, Adriel S.; Longhini, Ana Leda F.; Wandinger, Klaus-Peter; Damasceno, Benito P.; Wildemann, Brigitte; Santos, Leonilda M. B.

2012-01-01

426

Postpartum Postural Orthostatic Tachycardia Syndrome in a Patient with the Joint Hypermobility Syndrome  

PubMed Central

Postural orthostatic tachycardia syndrome (POTS) commonly affects women of childbearing age. We report on a 37-year-old woman who developed symptoms of recurrent syncope in the postpartum period. Her head up tilt test and clinical presentation was consistent with POTS.

Kanjwal, Khalil; Karabin, Beverly; Kanjwal, Yousuf; Grubb, Blair P.

2009-01-01

427

A clinical investigation of obstructive sleep apnea syndrome (OSAS) and upper airway resistance syndrome (UARS) patients  

Microsoft Academic Search

Objective: (i) Evaluation of the clinical differences and similarities presented by patients diagnosed as OSAS and UARS subjects. (ii) Evaluation of the ability of a sleep disorders specialist to dissociate the two syndromes based upon clinical evaluation.Population: 314 subjects were included. They were referred to a sleep disorders clinic with complaints of loud snoring during a 3 month period.Method: The

Christian Guilleminault; Jed E Black; Luciana Palombini; Maurice Ohayon

2000-01-01

428

Capgras' syndrome with organic disorders  

Microsoft Academic Search

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

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

1990-01-01

429

Magnetospheric Periodicities at Saturn Equinox  

NASA Astrophysics Data System (ADS)

For several years before equinox, the energetic charged and neutral particles in Saturn’s magnetosphere displayed strong periodicities near 10.8 hours, the same period observed in radio emissions and magnetic fields. These particle periodicities have now been observed at equinox in electrons, protons, oxygen ions, and neutral hydrogen and oxygen atoms at all energies greater than ~3 keV, the lowest energies measured by the Magnetospheric IMaging Instrument (MIMI) on the Cassini spacecraft. The equinoctial electrons exhibit a very strong period at 10.72 hours, while the protons have essentially no periodicity at all. Water group ions display a notable period at 10.73 hours. Both the electrons and the ions have curious overtones in their spectral structure that may be related to solar wind modulation. The energetic neutral hydrogen and oxygen atoms have strong periods of 10.79 hours at equinox. Within the uncertainties of the measurements, the ENA periods are slightly longer than the charged particle periods, although they cover a somewhat different time interval. For comparison, the Cassini magnetometer observed periodicities in Saturn’s magnetic field of 10.65 hours during the same equinoctial interval. These observations will be interpreted in terms of a wavy magnetodisk model.

Carbary, J. F.; Mitchell, D. G.; Roelof, E.; Paranicas, C.; Krimigis, S. M.; Krupp, N.; Hamilton, D. C.; Dougherty, M. K.

2010-12-01

430

Syndrome Dadaptation a Lespace (Space Adaptation Syndrome).  

National Technical Information Service (NTIS)

The space syndrome, the physiological effects of spacecraft life on the human body, and aspects of weightless environments are discussed. The inner ear equilibrium is analyzed. Treatment and prevention practices are described. It is concluded that it is a...

V. Didier

1987-01-01

431

Syndrome Z - The New Metabolic Syndrome  

Microsoft Academic Search

The association of obstructive sleep apnea (OSA) and hypertension is well established. To recognize the clustering of nocturnal apnea with hypertension and cardiovascular risk factors, a specific syndrome called \\

Ravindran C; Arun P; Hari Lakshmanan P

432

Clinical predictors of lacunar syndrome not due to lacunar infarction  

PubMed Central

Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004). Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879) of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62), sensorimotor stroke (OR = 4.05), limb weakness (OR = 2.09), sudden onset (OR = 2.06) and age (OR = 0.96) were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient with atrial fibrillation should alert the clinician to the possibility of a lacunar syndrome not due to a lacunar infarct.

2010-01-01

433

Serotonin syndrome in a postoperative patient.  

PubMed

Depression is common in patients with ischemic heart disease. According to mental health surveys, approximately one-fifth of the patients with angiographic evidence of coronary artery disease have major depression.[1] It is well-recognized that stigma associated with mental disorders leads to individuals avoiding treatment or concealing treatment for them. We report a case of serotonin syndrome that occurred during postoperative period in a patient who underwent coronary artery bypass grafting. The patient was receiving 60 mg/day fluoxetine for the last 4 years, which she and her attendants concealed during the preoperative evaluation. To our knowledge this is the first case of serotonin syndrome, reported in biomedical literature, in a postoperative patient. We suggest that history taking should also focus on antidepressant drug intake by patients. If serotonin syndrome occurs in such patients aggressive and timely management can help avert mortality. PMID:21772686

Choudhury, Minati; Hote, Milind P; Verma, Yashwant

2011-04-01

434

Pentoxifylline in hepatopulmonary syndrome  

PubMed Central

AIM: To determine the effects of pentoxifylline (PTX) on clinical manifestations and evaluate arterial blood gas data in hepatopulmonary syndrome (HPS) in children. METHODS: In a pilot study of 10 children with chronic liver disease, who had HPS, 20 mg/kg/d PTX was administered for 3 mo. Clinical data and arterial blood gas parameters were evaluated at baseline, the end of the treatment period, and 3 mo after drug discontinuation. RESULTS: Six patients could tolerate PTX, while four patients experienced complications. Among patients who could tolerate PTX, there was a significant increase in arterial oxygen pressure (PaO2) (P = 0.02) and oxygen saturation (SaO2) (P = 0.04) and alveolar-arterial oxygen gradient (P = 0.02) after 3 mo of treatment. Significant decreases in PaO2 (P = 0.02) and alveolar-arterial oxygen gradient (P = 0.02) were also seen after drug discontinuation. CONCLUSION: PTX may improve PaO2, SaO2 and alveolar-arterial oxygen gradient in the early stage of HPS.

Kianifar, Hamid Reza; Khalesi, Maryam; Mahmoodi, Eftekhar; Afzal Aghaei, Monavar

2012-01-01

435

[False victimization syndrome].  

PubMed

Criminology and criminal-psychology are sciences dealing mostly with the personality of the criminals as well as the interconnections of crime and deviance. The other player of the crimes - the victim - has recently come into focus posing the question why and how somebody is becoming a victim, and what effect can the victim have when the crime is being committed. The first international publications appeared at the beginning of the third millennium on so-called victims who are convinced to suffer from material, moral or other damages and, accordingly, who would pursue "justice" at any rate. They often appeal against decisions. Considering these facts the procedures are rather thorough and circumspect. A significant part of the law-enforcement staff is heavily involved for long periods. On the other side there is the person considered criminal being actually the real victim. These people are getting alienated from the society because of their reckoned deeds and, because of the distorting influence of the media they are condemned morally. The present study describes the syndromes of fake-victim, their occurrence as well as psychiatric considerations, social appearance and impact. The authors are drawing attention to the existence and significance of this medical-legal problem. PMID:21436019

Resch, Mária; Bella, Tamás

2011-04-01

436

Restless legs syndrome.  

PubMed

Restless legs syndrome (RLS) is a common neurological sensory-motor disorder that is characterized by intense restlessness and unpleasant creeping sensations deep inside the lower legs. Symptoms appear when the legs are at rest and are worst in the evening and at night. They force patients to keep moving their legs, and often to get out of bed and wander about. Periodic limb movements (PLMS) are also common during sleep amongst those suffering from RLS, and sleep efficiency is severely reduced. There are idiopathic as well as symptomatic forms of RLS, the latter being associated with e.g. pregnancy, iron deficiency and chronic renal failure. A family history of RLS is very common and pedigrees in these cases suggest an autosomal-dominant transmission with high penetrance. Genetic investigations have been performed in order to identify genes associated with RLS. Several loci have been found (on chromosomes 12q, 14q, 9p, 2q, 20p and 16p). Pathophysiology of RLS remains incompletely understood. However, advanced brain imaging studies and positive results of dopaminergic treatment suggest that RLS may be generated by dopamine dysfunction locally within the central nervous system. At present, there is a wide range of treatment options including levodopa, dopamine agonists, opioids, benzodiazepines, antiepileptic drugs and iron supplements. PMID:19817966

Ekbom, Karl; Ulfberg, J

2009-11-01

437

Planetary period oscillations at Saturn  

NASA Astrophysics Data System (ADS)

Saturn's magnetosphere chimes with oscillations at periods close to the planetary rotation period. The oscillatory period changes slowly over time [Galopeau and Lecacheux, 2000; Gurnett et al., 2005, Kurth et al., 2007, 2008], with slightly different periods being observed in the Northern and southern hemispheres [Gurnett et al., 2009a, Lamy, 2011]. Both periods are observed in the equatorial plane [Provan et al., 2011]. This talk aims to explore the periodicity, phase and polarization of magnetic field oscillations on closed and open field lines, and show how these oscillations are related to the variations in the UV auroral power as observed by the Hubble spacecraft [Nichols et al., 2010a], the location of the UV auroral oval [Nichols et al., 2008,2010b, Provan et al., 2009], the position of the magnetopause and bow shock [Clarke et al., 2006, 2010a,b] and the vertical displacement and thickness of Saturn's plasma sheet.

Provan, G.; Andrews, D. J.; Cowley, S. W.

2011-12-01

438

LEARNING CONTROL FOR PERIODIC SYSTEMS WITH UNKNOWN PERIODS  

Microsoft Academic Search

In periodic systems periodic errors occur during each phase of the process. Due to this interesting behaviour, the model prediction errors and the effect of disturbances on the plant output tend to repeat from time to time. This decreases the ability of the controller to make run to run improvements and reject dynamic errors, making the control action less effective.

S. Balaji; S. Lakshminarayanan

2006-01-01

439

Period-Amplitude and Amplitude-Period Relationships.  

National Technical Information Service (NTIS)

Examined are Period-Amplitude and Amplitude-Period relationships based on the cyclic behavior of the 12-month moving averages of monthly mean sunspot numbers for cycles 0.23, both in terms of Fisher's exact tests for 2x2 contingency tables and linear regr...

D. H. Hathaway R. M. Wilson

2008-01-01

440

Periodic and Quasi-Periodic Structures for Antenna Applications  

Microsoft Academic Search

Printed periodic and quasi-periodic structures can be employed to control reflection and transmission properties of incident waves as a function of structure geometry. As this can be done mostly independently for both polarizations, different kinds of polarizers (reflection and transmission polarizer from linear to circular polarization or twist polarizers) can be realized. A local variation of element geometry allow the

Dietmar Pilz; Wolfgang Menzel

1999-01-01

441

The periodic balanced sorting network  

Microsoft Academic Search

A periodic sorting network consists of a sequence of identical blocks. In this paper, the periodic balanced sorting network, which consists of log n blocks, is introduced. Each block, called a balanced merging block, merges elements on the even input lines with those on the odd input lines.The periodic balanced sorting network sorts n items in O([log n]2) time using

Martin Dowd; Yehoshua Perl; Larry Rudolph; Michael E. Saks

1989-01-01

442

Period Versus Cohort Life Expectancy  

Microsoft Academic Search

\\u000a Mortality can be analyzed according to two main frameworks: the cohort framework, which takes into account mortality risks\\u000a as they unfold along the actual life cycle of a group of individuals born during the same period of time, and the period framework,\\u000a which takes into account risks experienced by different cohorts during a single period of time. These frameworks provide

Michel Guillot

443

A case of diabetes mellitus associated with Rett syndrome.  

PubMed

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome. PMID:22570976

Akin, Leyla; Adal, Erdal; Akin, Mustafa Ali; Kurtoglu, Selim

2012-01-01

444

[Turner syndrome in adulthood: the need for multidisciplinary care].  

PubMed

Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced estimated life expectancy due to the greatly increased risk of structural abnormalities of the heart and aorta, and of other cardiovascular disease. The latter is due to the higher prevalence of hypertension, type-2 diabetes mellitus and dyslipidaemia. Furthermore, Turner syndrome in adulthood is characterized by infertility and oestrogen substitution is often necessary. Due to the diverse and interconnected nature of these problems, women with Turner syndrome benefit from coordinated medical care provided by a multidisciplinary outpatient team including an internist-endocrinologist, a gynaecologist and a cardiologist. We advise a periodic medical screening of women with this syndrome. PMID:17727182

Freriks, K; Beerendonk, C C M; Timmermans, J; Braat, D D M; Hermus, A R M M; Timmers, H J L M

2007-07-21

445

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

2002-01-01

446

Brown-Vialetto-Van Laere syndrome  

PubMed Central

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

Sathasivam, Sivakumar

2008-01-01

447

Periodic Table of the Elements  

NSDL National Science Digital Library

This interactive periodic table developed for Teachers' Domain provides detailed information about the chemical properties of elements and illustrates the electron configurations that determine those characteristics.

Foundation, Wgbh E.

2004-02-20

448

SAPHO syndrome associated spondylitis  

PubMed Central

The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

2008-01-01

449

Hamartomatous polyposis syndromes  

PubMed Central

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

2013-01-01

450

Melkersson-rosenthal syndrome  

Microsoft Academic Search

Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively.\\u000a It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema\\u000a of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is\\u000a a

Dev Raj Sharma; Sr. Resident; C. Mohan; R. S. Minnas; N. K. Mohindroo; M. L. Sharma

1999-01-01

451

Styloid-stylohyoid syndrome  

PubMed Central

This is a case report of Eagle's syndrome due to osseous metaplasia of the stylohyoid apparatus treated conservatively by injection of a local anesthetic – steroid combination. The incidence, etiopathogenesis, classification, clinical picture and various approaches to treatment of ossified stylohyoid ligament associated with Eagle's syndrome have been discussed. Anterolateral glossodynia, which is a previously unreported finding in Eagle's syndrome, and its possible etiology, has also been discussed.

Jain, Shivani; Bansal, Ashok; Paul, Samrity; Prashar, Deepti Vashisht

2012-01-01

452

[Chilaidity syndrome. Case report].  

PubMed

Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms. PMID:22462337

Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

453

Urologic myofascial pain syndromes  

Microsoft Academic Search

Treatment of pain of urogenital origin, chronic pelvic pain syndrome, can be frustrating for patients and physicians. The\\u000a usual approaches do not always produce the desired results. Visceral pain from pelvic organs and myofascial pain from muscle\\u000a trigger points share common characteristics. Referred pain from myofascial trigger points can mimic visceral pain syndromes\\u000a and visceral pain syndromes can induce trigger

Ragi Doggweiler-Wiygul

2004-01-01

454

Economy class syndrome.  

PubMed

A recent case of the "Economy Class Syndrome" is presented, emphasizing the syndrome's aeromedical implications and prevention. The clinical presentation, current modes of prophylaxis and therapy, plus a brief but pertinent historical background, are described. The syndrome is potentially fatal, and the authors stress that the condition needs to be recognized as a preventable hazard of air travel. Adoption of the preventive measures described herein can assist in promoting healthy air travel. PMID:7832740

Sahiar, F; Mohler, S R

1994-10-01

455

Lamotrigine induced DRESS syndrome.  

PubMed

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and treatment led to his rapid recovery. This case is presented to highlight the importance of early detection of rare fatal syndrome. PMID:23248415

Naveen, Kikkeri Narayanasetty; Ravindra, Mysore Satyanarayana; Pai, Varadraj V; Rai, Vijetha; Athanikar, Sharatchandra B; Girish, Meravanige

456

Constriction band syndrome.  

PubMed

Constriction band syndrome is an uncommon congenital abnormality with multiple disfiguring and disabling manifestations. Early amnion rupture with subsequent entanglement of fetal parts by amniotic strands is currently the primary theory for the development of this syndrome. Management of constriction band syndrome is focused on improving function and development while providing a more acceptable esthetic appearance. The treatment should be tailored to the individual. Timing of repair and surgical planning are important to provide the best functional results for affected hands. PMID:19380064

Kawamura, Kenji; Chung, Kevin C

2009-05-01

457

The ectopic ACTH syndrome  

Microsoft Academic Search

Ectopic Cushing’s syndrome usually relates to the ectopic ACTH syndrome (EAS) and represents ?20% of ACTH-dependent and ?10%\\u000a of all types of Cushing’s syndrome (CS). Nearly any neuroendocrine or non-endocrine tumours may be associated with EAS, but\\u000a the more prevalent tumours are bronchial carcinoids, small cell lung carcinomas, pancreatic carcinoids, thymic carcinoids,\\u000a medullary carcinomas of the thyroid, and phaeochromocytomas. Occult

Krystallenia I. Alexandraki; Ashley B. Grossman

2010-01-01

458

Genetics Home Reference: Brugada syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Brugada syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed November 2006 What is Brugada syndrome? Brugada syndrome is a condition that causes ...

459

Inherited Bone Marrow Failure Syndromes  

MedlinePLUS

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

460

Genetics Home Reference: Pfeiffer syndrome  

MedlinePLUS

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

461

Klippel-Trenaunay Syndrome (KTS)  

MedlinePLUS

... Contact NINDS Adobe Reader Microsoft Word Viewer NINDS Klippel-Trenaunay Syndrome (KTS) Information Page Table of Contents (click ... is being done? Clinical Trials Organizations What is Klippel-Trenaunay Syndrome (KTS)? Klippel-Trenaunay syndrome (KTS) is a ...

462

Drug Withdrawal Syndromes  

PubMed Central

Drug withdrawal syndromes reportedly have been caused by numerous pharmacological agents, but only a few drugs have been adequately studied in this regard. Criteria for evaluating drug withdrawal syndromes have been proposed. Sedative-hypnotic agents, opiates, corticosteroids, clonidine, tricyclic antidepressant medications and beta-adrenergic blocking agents meet the criteria for such syndromes. Gradual tapering of the dose of these drugs is recommended when therapy must be discontinued. Whether or not other drugs cause rebound reactions is questionable, but caution should be used when discontinuing drugs for which numerous reports of withdrawal syndromes exist.

Hodding, Glenn C.; Jann, Michael; Ackerman, Irving P.

1980-01-01

463

Gastrointestinal polyposis syndromes.  

PubMed

Colorectal cancer is one of the leading causes of cancer-related death in the Western society, and the incidence is rising. Rare hereditary gastrointestinal polyposis syndromes that predispose to colorectal cancer have provided a model for the investigation of cancer initiation and progression in the general population. Many insights in the molecular genetic basis of cancer have emerged from the study of these syndromes. This review discusses the genetics and clinical manifestations of the three most common syndromes with gastrointestinal polyposis and an increased risk of colorectal cancer: familial adenomatous polyposis (FAP), juvenile polyposis (JP) and Peutz-Jeghers syndrome (PJS). PMID:17311531

Brosens, Lodewijk A A; van Hattem, W Arnout; Jansen, Marnix; de Leng, Wendy W J; Giardiello, Francis M; Offerhaus, G Johan A

2007-02-01

464

Wernicke-Korsakoff syndrome  

MedlinePLUS

Korsakoff psychosis; Alcoholic encephalopathy; Encephalopathy - alcoholic; Wernicke's disease ... occurs after obesity surgery. Korsakoff syndrome, or Korsakoff psychosis, tends to develop as Wernicke's symptoms go away. ...

465

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.

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

2012-01-01

466

An uncommon phenotypical variant in the Shereshevsky-Turner syndrome  

Microsoft Academic Search

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

I. G. Dzenis; N. N. Antipina

1979-01-01

467

Schwartz-Jampel syndrome: three pediatric case reports.  

PubMed

Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation. PMID:14577682

Yapicio?lu, H; Satar, M; Yildizda?, D; Narli, N; Suleymanova, D; Tutak, E

2003-01-01

468

Genetics Home Reference: Townes-Brocks Syndrome  

MedlinePLUS

... anomalies syndrome renal-ear-anal-radial syndrome (REAR) sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome Townes syndrome ... anus ; kidney ; malformation ; mutation ; obstruction ; prevalence ; protein ; renal ; sensorineural ; syndrome ; transcription You may find definitions for these ...

469

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.

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

2013-01-01

470

The rotation period of Uranus  

Microsoft Academic Search

On 24 January 1986 the spacecraft Voyager 2 transversed the innermost magnetosphere of the planet Uranus, coming as close as 4.2 Uranus radii to the planet. It is pointed out that the magnetic field data provide a direct measure of the rotation period of the planet's interior, where the field is generated. Two period determinations are reported. A combination of

M. D. Desch; J. E. P. Connerney; M. L. Kaiser

1986-01-01

471

The discrete periodic Radon transform  

Microsoft Academic Search

In this correspondence, a discrete periodic Radon transform and its inversion are developed. The new discrete periodic Radon transform possesses many properties similar to the continuous Radon transform such as the Fourier slice theorem and the convolution property, etc. With the convolution property, a 2-D circular convolution can be decomposed into 1-D circular convolutions, hence improving the computational efficiency. Based

Taichiu Hsung; Daniel P. K. Lun; Wan-Chi Siu

1996-01-01