Note: This page contains sample records for the topic 1-associated periodic syndrome from Science.gov.
While these samples are representative of the content of Science.gov,
they are not comprehensive nor are they the most current set.
We encourage you to perform a real-time search of Science.gov
to obtain the most current and comprehensive results.
Last update: August 15, 2014.
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

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)  

PubMed Central

Tumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1). Here we examined the structural and functional alterations caused by 9 distinct TRAPS-associated TNFR1 mutations in transfected cells and a mouse “knock-in” model of TRAPS. We found that these TNFR1 mutants did not generate soluble versions of the receptor, either through membrane cleavage or in exosomes. Mutant receptors did not bind TNF and failed to function as dominant-negative inhibitors of TNFR1-induced apoptosis. Instead, TRAPS mutant TNFR1 formed abnormal disulfide-linked oligomers that failed to interact with wild-type TNFR1 molecules through the preligand assembly domain (PLAD) that normally governs receptor self-association. TRAPS mutant TNFR1 molecules were retained intracellularly and colocalized with endoplasmic reticulum (ER) markers. The capacity of mutant receptors to spontaneously induce both apoptosis and nuclear factor ?B (NF-?B) activity was reduced. In contrast, the R92Q variant of TNFR1 behaved like the wild-type receptor in all of these assays. The inflammatory phenotype of TRAPS may be due to consequences of mutant TNFR1 protein misfolding and ER retention.

Lobito, Adrian A.; Kimberley, Fiona C.; Muppidi, Jagan R.; Komarow, Hirsh; Jackson, Adrianna J.; Hull, Keith M.; Kastner, Daniel L.; Screaton, Gavin R.; Siegel, Richard M.

2006-01-01

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

Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, we present the case of a 9-month-old boy with recurrent nonpruritic rashes and episodes of fever. The difficulties of early diagnosis due to initially mild clinical symptoms and the dramatic response to anti-IL-1 therapy after diagnosis emphasize the practical relevance of considering CAPS as a differential diagnosis in these patients. PMID:22891689

Posch, Christian; Kaulfersch, Wilhelm; Rappersberger, Klemens

2014-01-01

5

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

6

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome  

PubMed Central

BACKGROUND The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots. RESULTS Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G?A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation. CONCLUSIONS The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K–AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (Funded by the Intramural Research Program of the National Human Genome Research Institute.)

Lindhurst, Marjorie J.; Sapp, Julie C.; Teer, Jamie K.; Johnston, Jennifer J.; Finn, Erin M.; Peters, Kathryn; Turner, Joyce; Cannons, Jennifer L.; Bick, David; Blakemore, Laurel; Blumhorst, Catherine; Brockmann, Knut; Calder, Peter; Cherman, Natasha; Deardorff, Matthew A.; Everman, David B.; Golas, Gretchen; Greenstein, Robert M.; Kato, B. Maya; Keppler-Noreuil, Kim M.; Kuznetsov, Sergei A.; Miyamoto, Richard T.; Newman, Kurt; Ng, David; O'Brien, Kevin; Rothenberg, Steven; Schwartzentruber, Douglas J.; Singhal, Virender; Tirabosco, Roberto; Upton, Joseph; Wientroub, Shlomo; Zackai, Elaine H.; Hoag, Kimberly; Whitewood-Neal, Tracey; Robey, Pamela G.; Schwartzberg, Pamela L.; Darling, Thomas N.; Tosi, Laura L.; Mullikin, James C.; Biesecker, Leslie G.

2011-01-01

7

An update on the pharmacological strategies in the treatment of HIV-1-associated adipose redistribution syndromes.  

PubMed

Introduction: With the introduction of combination antiretroviral therapy (ART) for HIV infection in the mid-1990s, descriptions of morphological changes and metabolic disturbances in treated patients began to emerge. HIV-1/highly active ART-associated lipodystrophy syndrome (HALS) involves metabolic abnormalities and diverse forms of anomalous fat distribution. The current review focuses on the pathophysiological basis and the clinical evidence for the use of several medical strategies in the management of HALS. Areas covered: We have covered the most relevant studies related to the pharmacological strategies in the treatment of HALS, with attention to the current and novel antiretroviral agents. Expert opinion: The most commonly used strategies for HALS reversion have included modification of host-dependent factors, including those related to HIV-1 infection and those associated with ART. Preventive and medical strategies have been associated with moderate success. The only intervention that offers an immediate aesthetical improvement for patients with HALS so far has been plastic surgery. PMID:24934336

Mateo, María Gracia; Gutierrez, María Del Mar; Vidal, Francesc; Domingo, Pere

2014-08-01

8

[Hyperimmunoglobulinemia D and periodic fever syndrome].  

PubMed

We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA. PMID:24935455

Agbo-Kpati, K-P; Condor, R; Hollenberg, H; Chalvon Demersay, A; Cuisset, L; Quartier, P

2014-07-01

9

Cryopyrin-associated periodic syndromes: diagnosis and management.  

PubMed

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory disorders; many cases of CAPS are caused by mutations in the NLRP3 gene. In these conditions, interleukin (IL)-1 is overproduced, and this overproduction plays a major role in disease onset and progression. CAPS include three variants, ranging in order of increasing severity from familial cold autoinflammatory syndrome, previously termed familial cold urticaria, through Muckle-Wells syndrome, to chronic infantile neurologic cutaneous articular syndrome, also known as neonatal onset multisystemic inflammatory disease. Diagnosis of CAPS is initially based on clinical manifestations and medical history, and later confirmed genetically. CAPS should be suspected when characteristic skin lesions, typical periodic fever episodes, bone/joint manifestations, and CNS involvement are recognized. CAPS are life-long diseases, and early diagnosis and early treatment with IL-1-targeted therapies may improve prognosis. PMID:22335455

Miyamae, Takako

2012-04-01

10

The Period of PURPLE Crying to Prevent Shaken Baby Syndrome  

Microsoft Academic Search

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

Abby Branderhorst

2012-01-01

11

Review of periodic limb movement and restless leg syndrome.  

PubMed

Periodic limb movement (PLM) and Restless leg syndrome (RLS) are types of sleep disorders that are not very well recognized in clinical practice. While RLS is a clinical diagnosis, the diagnosis of PLM is made by polysomnography. They share the same pathophysiology and often respond to the same treatment. To date all the epidemiological studies have reported the prevalence between 2% and 15%. It has recently become known that mild obstructive sleep apnea and upper airway resistance syndrome (UARS) can masquerade as PLM syndrome. New discoveries have been made with regard to genetics and PLM and RLS. Detailed review on this subject should improve the awareness of these disorders, both among general physicians and specialists. Extensive review of journals in the past 20 years was made using Medline search. PMID:20622400

Natarajan, R

2010-01-01

12

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.  

PubMed

Denys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein. PMID:21851196

Yue, Zhihui; Pei, Yuanyuan; Sun, Liangzhong; Huang, Weijun; Huang, Han; Hu, Bin; Yang, Juan; Jiang, Xiaoyun; Mo, Ying; Chen, Shumei; Lai, Kar Neng; Wang, Yiming

2011-01-01

13

Periods of Recovery in Deficit Syndrome Schizophrenia: A 20-Year Multi-follow-up Longitudinal Study  

PubMed Central

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.

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

2010-01-01

14

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

15

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

Microsoft Academic Search

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

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

1981-01-01

16

Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome  

Microsoft Academic Search

Recent progress in biological clock research has facilitated genetic analysis of circadian rhythm sleep disorders, such as delayed sleep phase syndrome (DSPS) and non-24-h sleep–wake syndrome (N-24). We analyzed the human period3 (hPer3) gene, one of the human homologs of the Drosophila clock-gene period (Per), as a possible candidate for rhythm disorder susceptibility. All of the coding exons in the

Makoto Uchiyama; Naofumi Kajimura; Kazuo Mishima; Yuichi Kamei; Masaaki Katoh; Tsuyoshi Watanabe; Masanori Sekimoto; Kayo Shibui; Keiko Kim; Yoshinao Kudo; Yuji Ozeki; Mariko Sugishita; Ryoichi Toyoshima; Yuichi Inoue; Naoto Yamada; Takahiro Nagase; Norio Ozaki; Osamu Ohara; Norio Ishida; Masako Okawa; Kiyohisa Takahashi; Toshio Yamauchi; Takashi Ebisawa

2001-01-01

17

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

18

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

19

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

20

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

21

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

22

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

Microsoft Academic Search

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

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

2008-01-01

23

The incidence of Down's syndrome over a 19-year period with special reference to maternal age.  

PubMed Central

The incidence of Down's syndrome in the Liverpool and Bootle areas from 1961 to 1979 was investigated. A total of 319 liveborn cases was ascertained over this period. Using 3-year moving averages, the incidence of the condition fell gradually from 1.62 per 1000 livebirths for 1961 to 1963 to 1.09 per 1000 livebirths for 1977 to 1979. This trend is significant at the 0.1% level. Over the same period the mean maternal age of Down's syndrome births fell gradually from 36.7 years in 1961 to 29.0 years in 1979. This trend is significant at the 1% level. There was a contemporaneous decrease in the proportion of total births to women over 35 years in the study area. Cytogenetic analysis was performed on 175 out of the 319 index cases (54.9%). Of these, there were 161 trisomies (92%), 11 translocations (6.3%), and three mosaics (1.7%). Between 1969 and 1979 four terminations of pregnancy for Down's syndrome were performed, all for trisomy. Quinquennial age specific incidences for Down's syndrome were calculated for the years 1960 to 1964, 1965 to 1969, 1970 to 1974, and 1975 to 1979. There have been no statistically significant changes over this time. It is suggested that the fall in incidence of Down's syndrome can be explained by the fall in mean maternal age.

Owens, J R; Harris, F; Walker, S; McAllister, E; West, L

1983-01-01

24

Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS)  

PubMed Central

Cryopyrin-associated periodic syndromes (CAPS) are a subgroup of the hereditary periodic fever syndromes, which are rare autoinflammatory and inherited disorders, characterized by recurrent inflammation and varying degrees of severity. CAPS are thought to be driven by excessive production of interleukin-1? (IL-1?), through over-activation of the inflammasome by gain of function mutations in the gene encoding cryopyrin (NLRP3). This conclusion is supported by the remarkable efficacy of IL-1? blockade in these conditions. Rilonacept (ArcalystTM; Regeneron) is the first us Food and Drug Administration-approved treatment for familial cold autoinflammatory syndrome and Muckle–Wells syndrome and the first in a new line of drugs designed for longer-acting IL-1 blockade. Rilonacept has been associated with a decrease in disease activity, high-sensitivity C-reactive protein (hsCRP) and serum amyloid A (SAA) in the treatment of CAPS. The clinical safety and efficacy of rilonacept in CAPS and non-CAPS populations will be summarized in this review. Rilonacept is also beneficial for patients who tolerate injections poorly, due to an extended half-life over the unapproved CAPS treatment, anakinra, requiring weekly rather than daily self-administration. Other autoinflammatory disorders may also benefit from rilonacept treatment, with clinical trials in progress for systemic onset juvenile idiopathic arthritis, gout and familial mediterranean fever.

Gillespie, Justin; Mathews, Rebeccah; McDermott, Michael F

2010-01-01

25

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

2012-03-01

26

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

ERIC Educational Resources Information Center

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

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

2011-01-01

27

An FDOPA PET study in patients with periodic limb movement disorder and restless legs syndrome.  

PubMed

The authors investigated nine drug-naive patients with periodic limb movement disorder and restless legs syndrome (PLMD-RLS) and 27 healthy controls with PET using 6-[18F]fluoro-L-dopa (FDOPA). In the patients, the FDOPA uptake (Ki(occ)) in the caudate nucleus was 88% and in the putamen 89% of the control mean values. This equal affection of the caudate and the putamen differs, for example, from the dopaminergic dysfunction in Parkinson's disease, which affects the putamen earlier and more severely than the caudate. The current results indicate mild nigrostriatal presynaptic dopaminergic hypofunction in PLMD-RLS. PMID:10668725

Ruottinen, H M; Partinen, M; Hublin, C; Bergman, J; Haaparanta, M; Solin, O; Rinne, J O

2000-01-25

28

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

PubMed Central

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

Haug, Iris

2013-01-01

29

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

PubMed

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

Kuemmerle-Deschner, Jasmin B; Haug, Iris

2013-12-01

30

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome  

Microsoft Academic Search

Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal recessive disorders characterized by recurrent episodes of fever and generalized inflammation. Both syndromes are caused by specific mutations in the gene encoding mevalonate kinase (MK), resulting in a depressed enzymatic activity mainly due to reduced protein levels. We studied the effect of temperature on the activity of wild-type and

Sander M. Houten; Joost Frenkel; Ger T. Rijkers; Ronald J. A. Wanders; Wietse Kuis; Hans R. Waterham

2002-01-01

31

Predicting sleep apnoea syndrome from heart period: a time-frequency wavelet analysis.  

PubMed

Heart rate fluctuations are a typical finding during obstructive sleep apnoea, characterised by bradycardia during the apnoeic phase and tachycardia at the restoration of ventilation. In this study, a time-frequency domain analysis of the nocturnal heart rate variability (HRV) was evaluated as the single diagnostic marker for obstructive sleep apnoea syndrome (OSAS). The predictive accuracy of time-frequency HRV variables (wavelet (Wv) decomposition parameters from level 2 (Wv2) to level 256 (Wv256)) obtained from nocturnal electrocardiogram Holter monitoring were analysed in 147 consecutive patients aged 53.8+/-11.2 yrs referred for possible OSAS. OSAS was diagnosed in 66 patients (44.9%) according to an apnoea/hypopnoea index > or = 10. Using receiver-operating characteristic curves analysis, the most powerful predictor variable was Wv32 (W 0.758, p<0.0001), followed by Wv16 (W 0.729, p<0.0001) and Wv64 (W 0.700, p<0.0001). Classification and Regression Trees methodology generated a decision tree for OSAS prediction including all levels of Wv coefficients, from Wv2 to Wv256 with a sensitivity reaching 92.4% and a specificity of 90.1% (percentage of agreement 91.2%) with this nonparametric analysis. Time-frequency parameters calculated using wavelet transform and extracted from the nocturnal heart period analysis appeared as powerful tools for obstructive sleep apnoea syndrome diagnosis. PMID:14680082

Roche, F; Pichot, V; Sforza, E; Court-Fortune, I; Duverney, D; Costes, F; Garet, M; Barthélémy, J C

2003-12-01

32

Sleep disorders frequency in post-polio syndrome patients caused by periodic limb movements.  

PubMed

Post-polio syndrome (PPS) in individuals with polio longer than 15 years is characterized by weakness and/or muscle fatigue, deficit of deglutition and breath and periodic limb movements (PLM) during sleep. We undertook a review of 99 patients with PPS, and assessed the frequency of PLM through polysomnographic recordings at our sleep disorders unit. The total number of PLM, total time of sleep (TTS), efficiency of sleep (EfS), awaking index (AI) and apnea-hypopnea index (AHI) were analyzed. Sixteen patients presented PLM in excess of 5 for the entire night. When comparing these with the group without PLM, a correlation was found (p=0.001). Significant difference was found for the correlation of the parameters: IAH, ID, TTS and EfS when compared the two groups. There is a close relationship between PPS and PLM. PMID:20339649

Araujo, Maria Auxiliadora de Paiva; Silva, Tatiana Mesquita e; Moreira, Gustavo Antonio; Pradella-Hallinan, Márcia; Tufik, Sergio; Oliveira, Acary Souza Bulle

2010-02-01

33

A Critical Period in Cortical Interneuron Neurogenesis in Down Syndrome Revealed by Human Neural Progenitor Cells  

PubMed Central

Down syndrome (DS) is a developmental disorder whose mental impairment is due to defective cortical development. Human neural progenitor cells (hNPCs) derived from fetal DS cortex initially produce normal numbers of neurons, but generate fewer neurons with time in culture, similar to the pattern of neurogenesis that occurs in DS in vivo. Microarray analysis of DS hNPCs at this critical time reveals gene changes indicative of defects in interneuron progenitor development. In addition, dysregulated expression of many genes involved in neural progenitor cell biology points to changes in the progenitor population and subsequent reduction in interneuron neurogenesis. Delineation of a critical period in interneuron development in DS provides a foundation for investigation of the basis of reduced neurogenesis in DS and defines a time when these progenitor cells may be amenable to therapeutic treatment.

Bhattacharyya, Anita; McMillan, Erin; Chen, Serene I.; Wallace, Kyle; Svendsen, Clive N.

2009-01-01

34

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

35

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience.  

PubMed

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n?=?3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G?A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G?A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. PMID:22281876

Vergara, Cristian; Borzutzky, Arturo; Gutierrez, Miguel A; Iacobelli, Sergio; Talesnik, Eduardo; Martinez, María E; Stange, Lilith; Basualdo, Javier; Maluje, Viviana; Jimenez, Renato; Wiener, Roberto; Tinoco, Javier; Jarpa, Elena; Aróstegui, Juan I; Yagüe, Jordi; Alvarez-Lobos, Manuel

2012-05-01

36

Physiological consequences of prolonged periods of flow limitation in patients with sleep apnea hypopnea syndrome.  

PubMed

Flow limitation during sleep occurs when the rise in esophageal pressure is not accompanied by a flow increase which results in a non-rounded inspiratory flow shape. Short periods of flow limitation ending in an arousal or in a fall in SaO2 (hypopnea or upper airway resistance syndrome) are detrimental but the role of prolonged periods of flow limitation (PPFL) has not yet been clarified. This is important not only for diagnosis but also for nasal continuous positive airway pressure (CPAP) titration, especially for the automatic devices that need to be setup. The aim of this study was to analyze the effects of PPFL. We compared the behavior of the mean end-expiratory systemic blood pressure (SBP), end-tidal CO2, esophageal pressure and the pattern of breathing during a period of normal breathing at optimal (CPAP) and during PPFL at suboptimal CPAP in 14 patients with sleep apnea/hypopnea syndrome during a full polysomnography CPAP titration. The mean values of the parameters studied, at optimal and suboptimal CPAP were (1) SBP 92+/-13 vs. 91+/-15 mmHg (P: ns). At suboptimal CPAP, swings of blood pressure were associated with changes in pleural pressure; (2) SaO2 97.5+/-1.2 vs. 96.5+/-1.6 (P: 0.03), (3) end-tidal CO2 43.5+/-4 vs. 49.5+/-4 (P:0.001); (4) oesophageal pressure, 10.5+/-4 vs. 37.6+/-15 cmH2O (P:0.001) and (5) pattern of breathing: minute ventilation 6.6+/-1.4 vs. 6.1+/-1.2L/min (P: ns) and inspiratory time 1.24+/-0.3 vs. 1.66+/-0.4s (P:0.001). It can be concluded that PPFL induces significant physiological changes. Nevertheless, given the scant literature, clinical studies are warranted to elucidate the clinical role of these physiological changes. PMID:16388943

Calero, Gabriel; Farre, Ramon; Ballester, Eugeni; Hernandez, Lourdes; Daniel, Navajas; Montserrat Canal, Josep M

2006-05-01

37

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

Microsoft Academic Search

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

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

2001-01-01

38

Restless legs syndrome and periodic limb movements during sleep probably associated with olanzapine.  

PubMed

We report five cases of restless legs syndrome (RLS) and periodic limb movements during sleep (PLMS) that were probably associated with olanzapine. The first patient showed a good response to olanzapine, but the RLS symptoms associated with olanzapine resulted in poor long-term compliance, eventually leading to frequent relapse of psychotic symptoms. The second patient exhibited sudden PLMS following olanzapine injection. The third patient had been suffering from serious akathisia while on risperidone, and was cured after switching to olanzapine, but thereafter the patient suffered from RLS at nighttime. The fourth patient showed RLS symptoms that were initially caused by a 20-mg daily olanzapine dosage and were later mitigated when olanzapine was reduced and ropinirole was administered. The fifth patient exhibited paraesthesia and agitation caused by olanzapine that was misdiagnosed as psychotic agitation. Increasing the olanzapine dosage severely aggravated the symptoms of RLS. Antipsychotic-induced RLS and PLMS are not well-recognized side effects of antipsychotics, with the symptoms often misdiagnosed as psychotic agitation. These cases also suggest that the occurrence of RLS can cause noncompliance with antipsychotics in psychiatric patients, and thus aggravate their psychotic symptoms. PMID:18562412

Kang, Seung-Gul; Lee, Heon-Jeong; Kim, Leen

2009-07-01

39

In vivo regulation of interleukin 1? in patients with cryopyrin-associated periodic syndromes  

PubMed Central

The investigation of interleukin 1? (IL-1?) in human inflammatory diseases is hampered by the fact that it is virtually undetectable in human plasma. We demonstrate that by administering the anti–human IL-1? antibody canakinumab (ACZ885) to humans, the resulting formation of IL-1?–antibody complexes allowed the detection of in vivo–produced IL-1?. A two-compartment mathematical model was generated that predicted a constitutive production rate of 6 ng/d IL-1? in healthy subjects. In contrast, patients with cryopyrin-associated periodic syndromes (CAPS), a rare monogenetic disease driven by uncontrolled caspase-1 activity and IL-1 production, produced a mean of 31 ng/d. Treatment with canakinumab not only induced long-lasting complete clinical response but also reduced the production rate of IL-1? to normal levels within 8 wk of treatment, suggesting that IL-1? production in these patients was mainly IL-1? driven. The model further indicated that IL-1? is the only cytokine driving disease severity and duration of response to canakinumab. A correction for natural IL-1 antagonists was not required to fit the data. Together, the study allowed new insights into the production and regulation of IL-1? in man. It also indicated that CAPS is entirely mediated by IL-1? and that canakinumab treatment restores physiological IL-1? production.

Lachmann, Helen J.; Lowe, Philip; Felix, Sandra Daniela; Rordorf, Christiane; Leslie, Kieron; Madhoo, Sheril; Wittkowski, Helmut; Bek, Stephan; Hartmann, Nicole; Bosset, Sophie; Hawkins, Philip N.

2009-01-01

40

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

PubMed

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

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

2014-04-01

41

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

PubMed

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

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

2014-09-01

42

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

43

[Glucagon secretion in patients with nephrotic syndrome in primary glomerulonephritis during the period of renal efficiency].  

PubMed

The performed studies covered 28 patients with nephrotic syndrome and 10 healthy individuals. The oral glucose tolerance test in 20 patients with nephrotic syndrome revealed glycemic values within the norm, and features of defective tolerance to glucose or diabetes in 8 subjects. Hyperglucagonemia was recorded in all the patients with increased glycemic values in the oral glucose tolerance test. It was found that hyperglucagonemia appeared in 70% of studied patients with normal glucose tolerance. All the groups of patients with nephrotic syndrome disclosed a decrease in glucagonemia, observed in normal subjects, in the course of oral glucose tolerance test as well as slower disappearance of glucagon from the circulatory system, which may be of certain significance in the occurrence of hyperglucagonemia. It has been ascertained that hyperglucagonemia may be one of the factors having influence upon a higher incidence rate of glucose tolerance abnormalities than in general population; can have a share in intensified catabolic processes, and also counteracts the effects of increased tissue absorption of glucose in patients with nephrotic syndrome. There has been a lower stimulating action of exogenic glucagon on insulin secretion in patients with nephrotic syndrome and hyperglucagonemia as compared to patients with normoglucagonemia and to healthy subjects. PMID:2099103

Napiera?a, K

1990-01-01

44

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

45

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

2011-01-01

46

First night efficacy of pramipexole in restless legs syndrome and periodic leg movements  

Microsoft Academic Search

Objective:Restless legs syndrome (RLS) seems to improve immediately after a single dose of dopamine-agonists (DA). The aim of the present study was to investigate the acute effects of a low standard dose of pramipexole in RLS drug-naïve patients.

Mauro Manconi; Raffaele Ferri; Marco Zucconi; Alessandro Oldani; Maria Livia Fantini; Vincenza Castronovo; Luigi Ferini-Strambi

2007-01-01

47

Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever  

Microsoft Academic Search

Background: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms precipitated by exposure to cold. Objective: The goal of this study was to formulate clinical diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported by genetic linkage to chromosome 1q44. Methods:

Hal M. Hoffman; Alan A. Wanderer; David H. Broide

2001-01-01

48

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

49

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

50

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

51

Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry  

PubMed Central

Background The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during the licensing process. Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring. Methods A web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS. Results Starting in November 2009, this registry enrolled 241 patients in 43 centers and 13 countries by December 31, 2012. One-third of the enrolled population was aged?

2013-01-01

52

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

PubMed

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

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

2012-01-01

53

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.  

PubMed

We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2. PMID:16906470

Donati, Maria Alice; Malvagia, Sabrina; Pasquini, Elisabetta; Morrone, Amelia; La Marca, Giancarlo; Garavaglia, Barbara; Toniolo, Daniela; Zammarchi, Enrico

2006-10-01

54

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

55

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

PubMed

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

Bachetti, Tiziana; Ceccherini, Isabella

2014-06-01

56

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

PubMed Central

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

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

2013-01-01

57

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

PubMed

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

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

2009-12-01

58

Secondary Myelodysplastic Syndrome May Happen Same as Paraneoplastic Syndrome in a Period of Time and Prior to The Appearance of Malignancy: A case Study of 6 Patients  

PubMed Central

Myelodysplastic syndrome is a bone marrow failure in which differentiation and maturity do not happen naturally and dysplasia exists in each of 3 cell categories in Bone marrow. Refractory anemia is one of the major complaints with which the patients come to hematology clinics, which in diagnostic considerations lead to MDS as diagnosis. Often there is no recognized reason for this, so it is called “primary MDS”. In practice, we meet some patients who have MDS criteria however we can also find specific reasons for it; therefore we call it “secondary MDS”. One of the most important reasons for secondary MDS is the side effects of medications used in chemotherapy and radiotherapy in patients who undergo these therapies. We observed 6 patients in this case study during lengthy follow up that were diagnosed as MDS and during follow up period malignancy appeared in 6 cases. Supportive and therapeutic measures in these patients did not considerably improve blood cell count, most patients required blood injection and antibiotics for infection treatment. However align with malignancy treatment such problems are completely resolved both in terms of clinical and laboratory.

Aznab, Mozaffar; Kavianymoghadam, Kaveh

2013-01-01

59

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

60

Problem Periods  

MedlinePLUS

... condition that causes period problems is PCOS, or polycystic ovary syndrome. Read our information on PCOS for teens , and see your doctor if you think you may have PCOS. Major weight loss. Girls who have anorexia will ...

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

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome  

Microsoft Academic Search

Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding MVK gene. Thus far, disease-causing mutations only could be detected by analysis of MVK cDNA. We now describe the genomic organization of the human MVK

Sander M Houten; Janet Koster; Gerrit-Jan Romeijn; Joost Frenkel; Maja Di Rocco; Ubaldo Caruso; Pierre Landrieu; Richard I Kelley; Wietse Kuis; Bwee Tien Poll-The; K Michael Gibson; Ronald JA Wanders; Hans R Waterham

2001-01-01

63

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.  

PubMed

This study describes a cblE type of homocystinuria associated with haemolytic-uremic syndrome (HUS) features. We report on a male infant aged 43 days presenting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associated with hyperhomocysteinaemia. An urinary organic acid analysis revealed normal methylmalonic acid excretion. The cblE diagnosis was confirmed with a complementation analysis using skin fibroblasts and genetic studies of the MTRR gene. The patient treatment included parenteral hydroxocobalamin, carnitine, betaine and folinic acid, but there was no response. After the autopsy, the histopathological examination of the kidneys showed marked myointimal proliferation and narrowing of the vascular lumen. The central nervous system showed signs of haemorrhage that affected the putamen and the thalamus; diffuse white matter lesions with spongiosis, necrosis and severe astrogliosis were also observed. Microangiopathy was observed with an increase in vessel wall thickness, a reduction of the arterial inner diameter and capillary oedema. The signs of necrosis and haemorrhage were detected in the cerebellum, the cerebellar peduncles, the tegmentum and the bulbar olives.In conclusion, cblE should be considered when diagnosing patients presenting with HUS signs and symptoms during the newborn period. Despite early diagnosis, however, the specific treatment measures were not effective in this patient. PMID:23430521

Palanca, Daniel; Garcia-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Perez, Belén; Ormazabal, Aida; Fowler, Brian; Artuch, Rafael

2013-01-01

64

Elevated C-reactive protein is associated with severe periodic leg movements of sleep in patients with restless legs syndrome  

PubMed Central

Background Restless legs syndrome (RLS) is a common sleep disorder in which urges to move the legs are felt during rest, are felt at night, and are improved by leg movement. RLS has been implicated in the development of cardiovascular disease. Periodic leg movements (PLMs) may be a mediator of this relationship. We evaluated systemic inflammation and PLMs in RLS patients to further assess cardiovascular risk. Methods 137 RLS patients had PLM measurements taken while unmedicated for RLS. Banked plasma was assayed for high sensitivity C-reactive protein (CRP), interleukin-6 (IL-6), and tumor necrosis factor alpha (TNF-alpha). Results Mean (SD) PLM index was 19.3 (22.0). PLMs were unrelated to TNF-a and IL-6, but were modestly correlated with log CRP (r(129) = 0.19, p = 0.03). Those patients with at least 45 PLMs/hour had an odds ratio of 3.56 (95% CI 1.26 to 10.03, p = 0.02, df = 1) for having elevated CRP compared to those with fewer than 45 PLMs/hour. After adjustment for age, race, gender, diabetes, hypertension, hyperlipidemia, inflammatory disorders, CRP-lowering medications, and body mass index, the OR for those with ? 45 PLMs/hour was 8.60 (95% CI 1.23 to 60.17, p = 0.03, df = 10). Conclusions PLMs are associated with increased inflammation, such that those RLS patients with at least 45 PLMs/hour had more than triple the odds of elevated CRP than those with fewer PLMs. Further investigation into PLMs and inflammation is warranted.

Trotti, Lynn Marie; Rye, David B.; De Staercke, Christine; Hooper, W. Craig; Quyyumi, Arshed; Bliwise, Donald L.

2012-01-01

65

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

2013-01-01

66

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

PubMed Central

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

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

2013-01-01

67

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands  

Microsoft Academic Search

Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) are two autosomal recessive disorders that both are caused by a deficient activity of the enzyme mevalonate kinase (MK) due to mutations in the encoding gene (MVK). The most frequently occurring MVK mutation, V377I (1129G>A), has been identified exclusively in HIDS patients. Other common mutations have been associated with both

Sander M Houten; Christiaan S van Woerden; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham

2003-01-01

68

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

69

Right pulmonary artery agenesis with patent ductus arteriosus and Eisenmenger syndrome: A rare case diagnosed during the postpartum period.  

PubMed

Unilateral absence of a pulmonary artery a very rare congenital disorder. We here present a case of a 22-year-old female patient with agenesis of the right pulmonary artery accompanying patent ductus arteriosus and Eisenmenger syndrome, diagnosed by chest X-ray and multidetector computed tomography 5 days after giving birth. PMID:24856223

Beker-Acay, Mehtap; Ozkececi, Gulay; Unlu, Ebru; Hocaoglu, Elif; Kacar, Emre; Onrat, Ersel

2014-01-01

70

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

71

Causes of losses including a Borna disease paralytic syndrome affecting young ostriches of one breeding organization over a five-year period (1989-1993).  

PubMed

Necropsy records and causes of mortality of ostriches up to 3 months old over a 5-year period (1989-1993) are presented. The data relate to one ostrich enterprise that comprises 10 breeding flocks, five rearing farms, and one hatchery. Causes of mortality are classified into nine major categories. The annual mortality percentages of all hatched ostriches over the 5-year period were 61%, 58%, 30%, 29%, and 16.6%, and the most significant cause of death was a paresis syndrome that accounted for 20%, 11%, 16%, 10.1%, and 2% mortality, respectively. Limb deformities and gastroenteritis were the other principal specific causes of mortality. The paresis syndrome was caused by an agent serologically related to Borna disease virus. Brain extracts from paralyzed ostriches, when given orally or intramuscularly to 5-week-old birds, reproduced the clinical signs and microscopic lesions. The mean time to death was less than 3 weeks for the intramuscularly infected group and was almost twice as long for the orally infected group. PMID:8713043

Ashash, E; Malkinson, M; Meir, R; Perl, S; Weisman, Y

1996-01-01

72

Retrospective analysis of Steven Johnson syndrome and toxic epidermal necrolysis over a period of 5 years from northern Karnataka, India  

PubMed Central

Objective: Cutaneous drug reactions are the most common type of adverse drug reactions. Adverse cutaneous drug reactions form 2-3% of the hospitalized patients. 2% of these are potentially serious. This study aims to detect the drugs commonly implicated in Steven Johnson Syndrome-Toxic Epidermal Necrosis (SJS-TEN). Materials and Methods: A retrospective analysis was done in all patients admitted in the last five years in SDM hospital with the diagnosis of SJS-TEN. Results: A total of 22 patients with SJS-TEN were studied. In 11 patients anti-epileptics was the causal drug and in 7, anti-microbials was the causal drug. Recovery was much faster in case of anti epileptics induced SJS-TEN as compared to that induced by ofloxacin. Conclusion: SJS-TEN induced by ofloxacin has a higher morbidity and mortality compared to anti convulsants.

Naveen, Kikkeri Narayanasetty; Pai, Varadraj V.; Rai, Vijetha; Athanikar, Sharatchandra B.

2013-01-01

73

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

74

[Demographic characteristics of Down's syndrome in Navarra. Trends of pre and postnatal diagnosis for the period 1991-2009].  

PubMed

This study describes the development of pre and postnatal diagnosis of sindrome de Down (SD) in the Autonomous Community of Navarre from 1991 to 2009 and assesses its preventive impact in the population, as well as to associated socio-demographic changes. In the absence of a prenatal diagnosis for DS, the change in maternal age from 1991 to 2009 would have caused a 50% increase in births with this disorder. However, the antenatal rate detection of DS increased from 15.8% in 1991-4 to 64.3% in 2006-9, giving rise to a decreasing incidence trend, not statistically significant, during the study period and to a higher mean age of mothers of live births with DS (32.75± 5,02 and 34.8±4,82 years during the first and second periods of the study, respectively). The proportion of young mothers (<35 years) of live births with DS was 66% in 1991-4 and 45% in 2006-9. Close to one fifth of the total population of pregnant women, however, did not want to go through a maternal screening test or amniocentesis. Seventeen per cent of all live births with DS had a positive screening test, but mothers decided to continue pregnancy. These results suggest that, despite the application of new and more sensitive prenatal screening tests, the incidence of DS may still be relatively high in our population, an important factor to be considered for future antenatal preventive programs and adequate postnatal care. PMID:24008527

Ramos Arroyo, M A; Lizarraga Rojas, M; Hernández Charro, B; Martínez Jaurrieta, M D; Zabaleta Jurio, J; Alonso Sánchez, A

2013-01-01

75

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

2012-06-15

76

Acute subdural haemorrhage in the postpartum period as a rare manifestation of possible HELLP (haemolysis, elevated liver enzymes, and low-platelet count) syndrome: a case report  

PubMed Central

Background The HELLP syndrome (haemolysis, elevated liver enzymes, and low-platelet count) occurs in about 0.5 to 0.9% of all pregnancies. With occurrence of thrombocytopaenia, it signals for several potentially lethal conditions such as complete or partial HELLP syndrome, thrombotic thrombocytopaenic purpura and acute fatty liver of pregnancy. Case presentation A previously healthy 27-year-old, Sinhala ethnic primigravida with pregnancy-induced hypertension was admitted at 38 weeks of gestation with lower abdominal pain and a blood pressure of 140/90 mmHg. She underwent emergency Caesarian section due to faetal distress giving birth to a healthy baby girl. Since postpartum day one, she was having intermittent fever spikes. All the routine investigations were normal in the first three weeks. Platelet count started dropping from post-partum day-20 onwards. On day-23, she had developed a seizure and computed tomography scan brain showed a subdural haemorrhage. She had a platelet count of 22,000?×?109/liter and was managed conservatively. She also had elevated liver enzymes, lactate dehydrogenase and bilirubin levels. Blood picture on day-24 showed haemolytic anemia. On day- 36, patient again developed seizures and she was having intermittent fever with generalized headache and signs of meningism. Computed tomography scan revealed an acute on chronic subdural haemorrhage. Conclusions Hypertensive disorders in pregnancy should be managed as high-risk throughout the postpartum period. Development of thrombocytopaenia can be considered as an early warning sign for HELLP, thrombotic thrombocytopaenic purpura or acute fatty liver of pregnancy which are lethal conditions. Prompt recognition of intracranial haemorrhages and early neurosurgical intervention is lifesaving.

2014-01-01

77

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

78

Pharmacologically Induced/Exacerbated Restless Legs Syndrome, Periodic Limb Movements of Sleep, and REM Behavior Disorder/REM Sleep Without Atonia: Literature Review, Qualitative Scoring, and Comparative Analysis  

PubMed Central

Background: Pharmacologically induced/exacerbated restless legs syndrome (RLS), periodic limb movements in sleep (PLMS), and REM behavior disorder/REM sleep without atonia (RSWA) are increasingly recognized in clinical sleep medicine. A scoring system to evaluate the literature was created and implemented. The aim was to identify the evidence with the least amount of confound, allowing for more reliable determinations of iatrogenic etiology. Methods: Points were provided for the following criteria: manuscript type (abstract, peer-reviewed paper); population size studied (large retrospective study, small case series, case report); explicitly stated dosage timing; identification of peak symptoms related to time of medication administration (i.e., medication was ingested in the evening or at bedtime); initiation of a treatment plan; symptoms subsided or ceased with decreased dosage or drug discontinuation (for RLS articles only); negative personal history for RLS prior to use of the medication; exclusion of tobacco/alcohol/excessive caffeine use; exclusion of sleep disordered breathing by polysomnography (PSG); and PSG documentation of presence or absence of PLMS. For RLS and PLMS articles were also given points for the following criteria: each 2003 National Institutes of Health (NIH) RLS criteria met; exclusion of low serum ferritin; and exclusion of peripheral neuropathy by neurological examination. Results: Thirty-two articles on drug-induced RLS, 6 articles on drug-induced PLMS, and 15 articles on drug-induced RBD/RSWA were analyzed. Conclusion: Based on scores ? 10 and trials of medication reduction/cessation, the strongest evidence available for drug induced RLS are for the following drugs: escitalopram; fluoxetine; L-dopa/carbidopa and pergolide; L-thyroxine; mianserin; mirtazapine; olanzapine; and tramadol. Since none of the PLMS articles assessed PLMI in trials of medication reduction/cessation, the strongest evidence based on scores ? 10 are for the following drugs: bupropion, citalopram, fluoxetine, paroxetine, sertraline, and venlafaxine. Based on scores ? 10 and/or trials of medication cessation, the strongest evidence for drug induced RBD/RSWA is for the following drugs: clomipramine, selegiline, and phenelzine. Citation: Hoque R; Chesson Jr AL. Pharmacologically induced/exacerbated restless legs syndrome, periodic limb movements of sleep, and rem behavior disorder/rem sleep without atonia: literature review, qualitative scoring, and comparative analysis. J Clin Sleep Med 2010;6(1):79-83.

Hoque, Romy; Chesson, Andrew L.

2010-01-01

79

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.  

PubMed

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non-consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, whereas anakinra showed positive responses only at high doses. The p.R277G mutation here described is a novel missense MVK mutation, and it has been detected in this case with a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies. PMID:24656624

Santos, Joana A; Aróstegui, Juan I; Brito, Maria J; Neves, Conceição; Conde, Marta

2014-06-01

80

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

81

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

PubMed Central

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

Prompongsa, Sirikarn

2014-01-01

82

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

PubMed Central

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

2014-01-01

83

[Fever as periodic disorder].  

PubMed

Slight, moderate but also high rises in temperature, excluding other causes of fever, can be considered symptoms of periodic syndrome originating by hypothalamic centers as soon as headache, recurrent abdominal pains, growing pains, dizziness, kinetosis. These rises aren't uncommon, but often aren't considered important and this few statistics are available. The Authors present 16 case reports of fever as periodic symptom and discuss how common factors exist in the mechanism of hyperthermia and other clinical signs of periodic syndrome (ex. migraine) but they are generally modulated differently so that disturbance of temperature regulation predominates in the first case, pain in the second. PMID:1461778

Castelli, S; Domenici, R; Meossi, C; Stefani, G

1992-01-01

84

Compartment syndromes  

NASA Technical Reports Server (NTRS)

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

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

1989-01-01

85

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

86

The patellar syndrome-a complication secondary to endoprosthetic replacement of the knee joint: a retrospective study of 102 knee joints over a period of seven years.  

PubMed

Until recently, loosening, infection and fractures of the prosthesis have been considered the only major complications of otherwise good initial results with total endoprosthetic replacement of the knee joint; however, another serious long term complication has become apparent. Severe degenerative changes of the retropatellar cartilage are being observed, which seem to be caused by a possible axial malalignment of the knee, progression of a preexisting retropatellar arthrosis, and additional metallosis induced by the prosthesis. The resulting symptoms and complaints, in accordance with Debeyre, are summarized by the term Patellar Syndrome. Our studies indicate that these symptoms develop in 50% of all patients with a total knee endoprosthesis within three years after surgery. In 10% of the cases these symptoms are severe enough to require additional surgical intervention. PMID:24823189

Kohler, G; Richter, R; Coldewey, J F

1982-02-01

87

The Effect of an Exercise Program in Conjunction With Short-Period Patellar Taping on Pain, Electromyogram Activity, and Muscle Strength in Patellofemoral Pain Syndrome  

PubMed Central

Background: McConnell recommended that patellar tape be kept on all day, until patients learn how to activate their vastus medialis obliquus (VMO) during an exercise program. This application may pose problems because prolonged taping may be inadvisable for some patients or even contraindicated owing to skin discomfort, irritation, or allergic reaction. Hypothesis: Wearing patellofemoral tape for a shorter duration during an exercise program would be just as beneficial as a prolonged taping application. Study Design: Prospective cohort. Methods: Twelve patients and 16 healthy people participated. Patients underwent short-period patellar taping plus an exercise program for 3 months. Numeric pain rating, muscle strength of the knee extensors, and electromyogram activity of the vastus lateralis and VMO were evaluated. Results: There were significant differences in electromyogram activity (P = .04) and knee extensor muscle strength (P = .03) between involved and uninvolved sides before treatment. After treatment, pain scores decreased, and there were no significant differences between involved and uninvolved sides in electromyogram activity (P = .68) and knee extensor strength (P = .62). Before treatment, mean VMO activation started significantly later than that of vastus lateralis, as compared with the matched healthy control group (P = .01). After treatment, these differences were nonsignificant (P = .08). Conclusion: Short-period patellar taping plus an exercise program improves VMO and vastus lateralis activation. Clinical Relevance: A shorter period of taping for the exercise program may be as beneficial as a prolonged taping application.

Kaya, Defne; Callaghan, Michael James; Ozkan, Huseyin; Ozdag, Fatih; Atay, Ozgur Ahmet; Yuksel, Inci; Doral, Mahmut Nedim

2010-01-01

88

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

89

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

90

Antibody response to Shiga toxins in Argentinean children with enteropathic hemolytic uremic syndrome at acute and long-term follow-up periods.  

PubMed

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

Fernández-Brando, Romina J; Bentancor, Leticia V; Mejías, María Pilar; Ramos, María Victoria; Exeni, Andrea; Exeni, Claudia; Laso, María del Carmen; Exeni, Ramón; Isturiz, Martín A; Palermo, Marina S

2011-01-01

91

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 ...

92

Asperger Syndrome  

MedlinePLUS

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

93

Cushing's Syndrome  

MedlinePLUS

NINDS Cushing's Syndrome Information Page Synonym(s): Hypercortisolism Table of Contents (click to jump to sections) What is Cushing's Syndrome? Is ... is being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare ...

94

Fanconi syndrome  

MedlinePLUS

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

95

Susac's syndrome or catastrophic antiphospholipid syndrome?  

PubMed

Susac's syndrome is a microangiopathic disorder of unknown pathogenesis presenting with encephalopathy, hearing loss and branch retinal artery occlusions. The term 'catastrophic' antiphospholipid syndrome (APS) is used to define a subset of the APS characterized by thrombotic microangiopathy with clinical evidence of three or more organ involvement developed in a short period of time. We describe a patient with typical features of Susac's syndrome, that appeared in less than a week, in whom aPL were detected, thus fulfilling criteria for 'probable' catastrophic APS. PMID:15462492

Bucciarelli, S; Cervera, R; Martínez, M; Latorre, X; Font, J

2004-01-01

96

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

PubMed

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

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

2014-07-01

97

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

2007-01-01

98

Irregular Periods  

MedlinePLUS

... some later. The first period is known as menarche (pronounced: MEH-nar-kee). What would you do ... unusual, especially in the first 2 years after menarche, to skip periods or to have an irregular ...

99

Periodic paralyses.  

PubMed

The periodic paralyses are a group of muscle diseases with abnormalities of channels. These abnormalities result in paralysis or weakness with or without poor relaxation of muscle. Hypokalemic periodic paralyses, potassium-sensitive periodic paralyses, and paramyotonia congenita are reviewed. The clinical findings, pathophysiologic abnormalities, diagnostic evaluations, and possible treatments are included in this article. PMID:10658175

Gutmann, L

2000-02-01

100

Neuronal injury regulates fractalkine: relevance for HIV1 associated dementia  

Microsoft Academic Search

Fractalkine (FKN), a chemokine highly expressed in the central nervous system, participates in inflammatory responses operative in many brain disorders including HIV-1 associated dementia (HAD). In this report, HIV-1 progeny virions and pro-inflammatory products led to FKN production associated with neuronal injury and apoptosis. FKN was produced by neurons and astrocytes; but differentially produced by the two cell types. Laboratory

David Erichsen; Alicia L. Lopez; Hui Peng; Douglas Niemann; Clancy Williams; Michael Bauer; Susan Morgello; Robin L. Cotter; Lisa A. Ryan; Anuja Ghorpade; Howard E. Gendelman; Jialin Zheng

2003-01-01

101

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

102

Expanding the spectrum of NPHS1-associated disease.  

PubMed

The nephrin gene NPHS1 was cloned in 1998. Studies in families with congenital nephrotic syndrome led to the identification of this critical component of the glomerular slit diaphragm. Studies such as the new one by Santín et al. are expanding our understanding of the spectrum of disease associated with NPHS1 mutations. PMID:19946311

Pollak, Martin R

2009-12-01

103

Williams syndrome  

MedlinePLUS

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

104

Metabolic Syndrome  

MedlinePLUS

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

105

Usher Syndrome  

MedlinePLUS

... syndrome. Top What are the characteristics of the three types of Usher syndrome? Type 1 Children with ... RP often not apparent until the teens. Type 3 Children with type 3 Usher syndrome have normal ...

106

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

107

Jacobsen syndrome.  

PubMed

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 approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

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

2009-01-01

108

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

109

Laboratory evaluations in HIV-1-associated cognitive/motor complex.  

PubMed

Laboratory tests can provide useful information about the presence and effects of HIV-1 in the CNS, but have thus far not yielded definitive diagnostic or prognostic markers of HIV-1-related cognitive and motor complex. The most clinically useful laboratory procedures are MR imaging and CSF examinations. The routine clinical use of MR imaging and CSF examinations, however, is still restricted to providing information for detecting and excluding secondary effects of HIV-1 infection. MR imaging and CT do not appear to be sensitive enough at current resolutions to provide early detection of HIV-1 CNS effects nor to follow disease progression. Several CSF variables are extremely promising as early markers of primary HIV-1 infection of the brain, and may provide preclinical indications for onset of treatment and for evaluation of treatment efficacy. These include CSF quinolinic acid levels, acid dissociated p24 antigen levels, neopterin or beta 2m, intrathecal IgG synthesis rate, and possibly quantitated PCR levels of HIV-1 viral load. Procedures such as nuclear magnetic resonance spectroscopy, SPECT, PET, computerized EEG, EP, and ERPs are all promising candidates for early detection or localization of HIV-1-related brain dysfunction, but at this time all must still be considered primarily research tools. Before any of these procedures can provide reliable diagnostic and prognostic information about primary HIV-1 neurologic disease, currently on-going longitudinal evaluations of large numbers of asymptomatic HIV-1-infected individuals as they progress to neurologically symptomatic disease must be completed. There is currently no laboratory marker in blood or CSF that definitively predicts the risk for HIV-1-associated cognitive/motor complex. HIV-1-associated cognitive/motor complex remains a clinical diagnosis, which is made on the basis of positive neurologic signs and symptoms and abnormal neuropsychological findings after other causes of neurologic disease are excluded. Laboratory measures, such as the electrophysiologic methods and some CSF variables, are likely to remain adjuncts to the diagnosis because, with few exceptions, they provide data that are nonspecific as to etiopathogenesis. Dynamic imaging, electrophysiologic methods, and CSF indices provide presumptive evidence for the presence of HIV-1-associated CNS damage, and with clinical and neuropsychological evidence, could be used to establish a new definition of primary HIV-1-associated CNS disease along the lines used in establishing a diagnosis of multiple sclerosis.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:8190671

Syndulko, K; Singer, E J; Nogales-Gaete, J; Conrad, A; Schmid, P; Tourtellotte, W W

1994-03-01

110

Learning about Duane Syndrome  

MedlinePLUS

... Duane syndrome? Duane syndrome (DS) is a rare, congenital (present from birth) eye movement disorder. Most patients ... or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome. In ...

111

Metabolic Syndrome  

MedlinePLUS

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

112

Fregoli syndrome.  

PubMed

Fregoli syndrome is the delusional belief that one or more familiar persons, usually persecutors following the patient, repeatedly change their appearance. This syndrome has often been discussed as a variant of the Capgras syndrome in the literature, but these two syndromes have different phenomenological structures and age and sex distributions. The author presents a review of 34 cases of Fregoli syndrome in the English and French language literature, discussing the syndrome's definition, aetiology and course. It is suggested that although an organic substrate may be found in some cases, it is the dominant psychotic theme which determines the content of the syndrome. PMID:7893241

Mojtabai, R

1994-09-01

113

Thyroid Function in Down Syndrome.  

ERIC Educational Resources Information Center

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

Pueschel, Siegfried M.; And Others

1991-01-01

114

Rett syndrome: a study of the face  

Microsoft Academic Search

Rett syndrome is a unique disorder of neurodevelopment that is characterized by an evolving behavioral and developmental phenotype, which emerges after an apparently normal early infantile period. It almost exclusively affects females. The face of Rett syndrome is said to resemble that of Angelman syndrome, although there seems little objective support for this impression and it is not a concept

J. E. Allanson; R. C. M. Hennekam; U. Moog; E. E. Smeets

2011-01-01

115

Periodic quasicrystal  

Microsoft Academic Search

It is shown that the icosahedral quasicrystal and the recently observed T phase are closely related to each other. The latter is a periodic stacking of two-dimensional quasilattices with mirror symmetry. Their diffraction patterns, though appearing very different, can be indexed by a set of primary vectors that are only small deformations of each other. However, because of the mirror

T.-L. Ho

1986-01-01

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

Mayer-Rokitansky syndrome and anorectal malformation  

Microsoft Academic Search

Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia\\u000a being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer\\u000a Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for\\u000a classification of the syndrome and diagnosis of associated anomalies. The

Shreeprasad P. Patankar; Vijay Kalrao I; Shilpa S. Patankar

2004-01-01

118

Learning about Down Syndrome  

MedlinePLUS

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

119

Moebius Syndrome  

MedlinePLUS

... disorders. NIH Patient Recruitment for Moebius Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Moebius Syndrome Foundation P.O. ...

120

Trichorhinophalangeal syndrome.  

PubMed

Trichorhinophalangeal syndrome type 1 is an autosomal dominant variety of peripheral dysostosis. I have reviewed nine cases of this syndrome and have described two of these cases. I have also presented an extensive review of the literature. PMID:1925732

Burgess, R C

1991-10-01

121

Hunter syndrome  

MedlinePLUS

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

122

Metabolic syndrome  

MedlinePLUS

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

123

Compartment syndrome  

MedlinePLUS

Compartment syndrome is a serious condition that involves increased pressure in a muscle compartment. It can lead to ... need to be amputated. Swelling that leads to compartment syndrome occurs from trauma such as a car accident ...

124

Dravet Syndrome  

MedlinePLUS

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

125

Determinants of Human Cyclin B1 Association with Mitotic Chromosomes  

PubMed Central

Cyclin B1–CDK1 activity is essential for mitotic entry, but questions remain regarding how the activity of this kinase is spatially regulated. Previous studies showed that the cyclin B1 subunit localizes to several compartments of a mitotic cell, including the centrosomes, mitotic spindle, kinetochores and chromosomes via distinct sequence elements. Mitotic chromosome association occurs through the unstructured N-terminal domain of cyclin B1 and is independent of CDK1 binding. Here, we use live cell imaging of human cyclin B1 fused to GFP to precisely define the sequence elements within cyclin B1 that mediate its association with condensed mitotic chromosomes. We find that a short, evolutionarily conserved N-terminal motif is required for cyclin B1 to localize to mitotic chromosomes. We further reveal a role for arginine residues within and near the destruction box sequence in the chromosome association of cyclin B1. Additionally, our data suggest that sequences further downstream in cyclin B1, such as the cytoplasmic retention sequence and the cyclin box, may negatively modulate chromosome association. Because multiple basic residues are required for cyclin B1 association with mitotic chromosomes, electrostatic interactions with DNA may facilitate cyclin B1 localization to chromosomes.

Pfaff, Kathleen L.; King, Randall W.

2013-01-01

126

Apolipoprotein C1 Association with Hepatitis C Virus ?  

PubMed Central

Accumulating evidence suggests that cellular lipoprotein components are involved in hepatitis C virus (HCV) morphogenesis, but the precise contribution of these components remains unclear. We investigated the involvement of apolipoprotein C1 (ApoC1) in HCV infection in the HCV pseudotyped particle system (HCVpp), in the recently developed cell culture infection model (HCVcc), and in authentic HCV isolated from viremic chimpanzees. Viral genomes associated with HCVcc or authentic HCV were efficiently immunoprecipitated by anti-ApoC1, demonstrating that ApoC1 was a normal component of HCV. The infectivities of HCVpp that had been mixed with ApoC1 and, more importantly, untreated HCVcc collected from lysates or media of infected Huh7.5 cells were directly neutralized by anti-ApoC1. Indeed, convalescent anti-HCV immunoglobulin G and anti-ApoC1 each neutralized over 75% of infectious HCVcc particles, indicating that many, if not all, infectious particles were recognized by both antibodies. Moreover, peptides corresponding to the C-terminal region of ApoC1 blocked infectivity of both HCVpp and HCVcc. Altogether, these results suggest that ApoC1 associates intracellularly via its C-terminal region with surface components of virions during viral morphogenesis and may play a major role in the replication cycle of HCV.

Meunier, Jean-Christophe; Russell, Rodney S.; Engle, Ronald E.; Faulk, Kristina N.; Purcell, Robert H.; Emerson, Suzanne U.

2008-01-01

127

Aase syndrome  

MedlinePLUS

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

128

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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

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

2009-01-01

129

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

130

Velocardiofacial Syndrome  

Microsoft Academic Search

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

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

2009-01-01

131

The Orion OB1 association. 1: Stellar content  

NASA Technical Reports Server (NTRS)

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

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

1994-01-01

132

Evaluation of SPATA1-associated markers for stallion fertility.  

PubMed

Stallion fertility is an economically important trait because the use of artificial insemination is increasing in the horse industry and superior sires are used more intensely. Molecular genetic markers may be useful as early indicators for a stallion's fertility and genetic improvement programmes. The testis-specific SPATA1 protein is involved in shaping the sperm head during spermatogenesis. Thus, the spermatogenesis associated 1 (SPATA1) gene was chosen as candidate for stallion fertility, and we analysed intragenic single nucleotide polymorphisms (SNPs) as genetic markers for the least square means (LSM) of the pregnancy rate per oestrus of stallions and breeding values (BV) for the paternal and embryonic component of the pregnancy rate per oestrus. We sequenced the cDNA of SPATA1 to verify the annotated mRNA sequence. One SPATA1-associated intronic SNP (BIEC2-968854) showed a significant association with the embryonic component of BVs of stallions for the pregnancy rate per oestrus. The embryonic component of BVs was positively associated with homozygous C/C stallions. Both the additive and dominance effects were significant with values of -5.8% (P = 0.01) and -6.4% (P = 0.02) for the embryonic component of BVs. For the same SNP, a suggestive association was found for the LSM of the pregnancy rate per oestrus of stallions. Heterozygous stallions had higher pregnancy rates per oestrus than homozygous stallions. The dominance effect was 4.1% with a nominal P-value of 0.02. The SNP BIEC2-968854 can change an SP1 binding site and thus we assume that gene regulation may be influenced through this intronic mutation. This is the first report on SPATA1 being associated with the pregnancy rate per oestrus for stallions. PMID:19220231

Giesecke, K; Hamann, H; Stock, K F; Woehlke, A; Sieme, H; Distl, O

2009-08-01

133

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

134

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

135

Delayed diagnosis of alport syndrome without hematuria.  

PubMed

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

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

2014-05-01

136

Barth syndrome  

PubMed Central

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

JEFFERIES, JOHN L

2013-01-01

137

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

2012-01-01

138

Urofacial syndrome.  

PubMed

The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure. PMID:22382233

Akl, Kamal F; Al Momany, Hashem M

2012-03-01

139

[Kounis syndrome].  

PubMed

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

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

2012-01-01

140

Bazex Syndrome*  

PubMed Central

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

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

2013-01-01

141

Bazex syndrome.  

PubMed

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

Rodrigues, Ismael Alves; Gresta, Letícia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintão

2013-01-01

142

[LEOPARD syndrome].  

PubMed

Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found. PMID:483956

Butenschön, H; Burg, G; Lentze, M

1979-07-01

143

Poland syndrome  

PubMed Central

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

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

2014-01-01

144

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

145

Multiple endocrine neoplasia type 1 associated with breast cancer: A case report and review of the literature  

PubMed Central

Multiple endocrine neoplasia type 1 (MEN1) is a cancer predisposition syndrome that includes a combination of endocrine and non-endocrine tumors. The present study reports a rare case of MEN1 associated with breast cancer with the MEN1 gene mutation. A 45-year-old female was diagnosed with breast cancer subsequent to presenting with a right breast mass. Pre-operative radiological studies indicated right breast cancer with a suspicious metastatic nodule of the lung. Further studies demonstrated bilateral thyroid nodules, a neuroendocrine tumor of the pancreas, paraganglioma, a left adrenal adenoma, gallstones, uterine subserosal myoma and pituitary macroadenoma. Laboratory examinations revealed hypercalcemia, hypophosphatemia and an increased intact parathyroid hormone level. The workup for the suspected MEN syndrome revealed an increased basal plasma level of insulin-like growth factor-1, prolactin and calcitonin, and an increased 24-h urinary free cortisol level. The patient underwent surgical removal of the breast cancer and the tumors of the pancreas, adrenal gland, thyroid and parathyroid glands, uterus, anterior mediastinum and lung. The pathological diagnosis of the resected breast was of invasive ductal carcinoma. Otherwise the pathological diagnosis was of calcitonin-producing pancreatic endocrine carcinoma, adrenal cortical adenoma, bilateral papillary thyroid carcinomas, parathyroid adenomas, uterine leiomyoma with adenomyosis, a thymic carcinoid tumor and lung hamatoma. Gene analysis was performed to determine the association between gene mutations and the development of tumors in this patient, and a germ-line MEN1 gene mutation was consequently detected. It could be assumed that MEN1 syndrome may have possibly predisposed the present patient to breast cancer. However, additional observations and further studies are required to demonstrate this association.

JEONG, YOUNG JU; OH, HOON KYU; BONG, JIN GU

2014-01-01

146

Anomalies associated with Axenfeld-Rieger syndrome  

Microsoft Academic Search

Background: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because\\u000a early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify\\u000a the associated anomalies in the syndrome.? Methods: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at\\u000a Nagoya City University Hospital over a 16-year period. Patients who

Hironori Ozeki; Shoichiro Shirai; Kozo Ikeda; Yuichiro Ogura

1999-01-01

147

Genetics Home Reference: Cardiofaciocutaneous syndrome  

MedlinePLUS

... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic ... cardiofaciocutaneous syndrome. Read more about Costello syndrome and Noonan syndrome . How common is cardiofaciocutaneous syndrome? Cardiofaciocutaneous syndrome is ...

148

DRESS syndrome.  

PubMed

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, initially recognized as a serious form of cutaneous drug adverse reaction, is now viewed as a drug-related syndrome that can cause life-threatening organ dysfunctions. Characteristic features include a long time interval from first drug exposure to symptom onset and a prolonged course, often with flares, even after discontinuation of the causal drug. The pathophysiology of DRESS syndrome remains incompletely understood but involves reactivation of herpes viruses (HHV-6, HHV-7, EBV, and CMV), against which the body mounts a strong immune response. The culprit drugs may not only affect epigenetic control mechanisms, thereby promoting viral reactivation, but also induce an antiviral T-cell response by interacting with the major histocompatibility complex receptor in individuals with genetic susceptibility factors. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a potentially life-threatening form of cutaneous drug adverse reaction. The severity of this syndrome is related to the systemic manifestations, which can result in multiorgan failure. DRESS syndrome is characterized by highly specific features, most notably regarding the timing of the manifestations. New insights into the underlying pathophysiological mechanisms indicate a role for immunogenetic susceptibility factors and for reactivation of human herpes viruses (HHVs), chiefly HHV-6. We report a typical case of DRESS syndrome and discuss recent data about this condition. PMID:23816504

Descamps, Vincent; Ranger-Rogez, Sylvie

2014-01-01

149

Cushing Syndrome  

PubMed Central

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

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

1980-01-01

150

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

151

Metabolic syndrome.  

PubMed

Metabolic syndrome is not a disease per se, but is a term that highlights traits that may have an increased risk of disease, approximately 2-fold for cardiovascular disease and 5-fold or more for type 2 diabetes mellitus. Obesity and insulin resistance are believed to be at the core of most cases of metabolic syndrome, although further research is required to truly understand the pathophysiology behind the syndrome and the gene-environment interactions that increase susceptibility. The mainstay of treatment remains lifestyle changes with exercise and diet to induce weight loss and pharmacologic intervention to treat atherogenic dyslipidemia, hypertension, and hyperglycemia. PMID:24582089

Samson, Susan L; Garber, Alan J

2014-03-01

152

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

153

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

154

Metabolic Syndrome  

MedlinePLUS

... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

155

Asherman syndrome  

MedlinePLUS

... women who have had several dilatation and curettage (D&C) procedures. A severe pelvic infection unrelated to surgery ... Asherman syndrome if they occur suddenly after a D&C or other uterine surgery.

156

Asperger syndrome  

MedlinePLUS

... is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat ... syndrome is a pervasive developmental disorder (PDD) or autism spectrum disorder (ASD). The main difference between Asperger ...

157

Reye Syndrome  

MedlinePLUS

... child with Reye syndrome stays hydrated and maintains electrolyte balance, and monitors nutrition intake and cardiorespiratory status. ... might be done include blood tests to monitor electrolytes and liver function and an imaging study of ...

158

Waardenburg syndrome  

MedlinePLUS

... The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.

159

Levator Syndrome  

MedlinePLUS

... Multimedia Table Index In This Topic Digestive Disorders Anal and Rectal Disorders Levator Syndrome Diagnosis Treatment Back to Top Helpful Resources First Aid Pronunciations Common Medical Tests Drug Names Table ...

160

Ohtahara Syndrome  

MedlinePLUS

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

161

Apert syndrome  

MedlinePLUS

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

162

Menkes syndrome  

MedlinePLUS

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

163

Myelodysplastic Syndromes  

MedlinePLUS

... Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment ...

164

Tourette Syndrome  

MedlinePLUS

... other problems, such as Attention deficit 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 ...

165

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

166

Marfan Syndrome  

MedlinePLUS

... body. Think of it as a sort of "glue" that helps support your organs, blood vessels, bones, ... and muscles. In people with Marfan syndrome, this "glue" is weaker than normal. That's because of a ...

167

Marfan Syndrome  

MedlinePLUS

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

168

Sjogren's Syndrome  

MedlinePLUS

... symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, ... people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of ...

169

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 ...

170

CHARGE syndrome  

Microsoft Academic Search

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

Kim D Blake; Chitra Prasad

2006-01-01

171

Piriformis Syndrome  

Microsoft Academic Search

Piriformis syndrome (PS) is the reversible compression of the sciatic nerve by the piriformis muscle. It may cause deep and\\u000a severe pain in the buttock, hip, and sciatica, with radiation into the thigh, leg, foot, and toes. Like carpal tunnel or pronator\\u000a syndromes, it may cause damage to the peripheral nerve through excessive pressure (1). In PS, piriformis muscular tension

Loren M. Fishman; Alena Polesin; Steven Sampson

172

Dumping syndrome  

Microsoft Academic Search

Opinion statement  The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts\\u000a and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms\\u000a of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude\\u000a fluid intake during ingestion of the solid portion of

William L. Hasler

2002-01-01

173

Chronic Fatigue Syndrome  

MedlinePLUS

... said she had chronic fatigue syndrome. What Is Chronic Fatigue Syndrome? Chronic fatigue syndrome (CFS) is a complicated disease ... connection between this and CFS. Continue Who Gets CFS? Chronic fatigue syndrome can affect people of all ...

174

Muir-Torre Syndrome  

MedlinePLUS

... Editorial Board , 11/2013 Overview What is Muir-Torre syndrome? Muir-Torre syndrome is a form of ... his or her medical care. What causes Muir-Torre syndrome? Muir-Torre syndrome is a genetic condition. ...

175

Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?  

PubMed

We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies. Since SF3B4 mutations have been recently associated with Nager syndrome, this suggests that at least some cases of Rodriguez syndrome are either allelic to or represent unusually severe manifestations of Nager syndrome. Although clinical overlap is obvious, this is somewhat surprising given the presumed autosomal recessive inheritance of Rodriguez syndrome. Investigation of other Rodriguez syndrome patients is needed to clarify the genetic mechanism and possible heterogeneity in patients with clinical features of Rodriguez syndrome. © 2014 Wiley Periodicals, Inc. PMID:24715698

McPherson, Elizabeth; Zaleski, Christina; Ye, Zhan; Lin, Simon

2014-07-01

176

Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings  

Microsoft Academic Search

We present the case of a mother and four children displaying signs of Multiple Synostosis Syndrome (SYNS1) associated with conductive hearing loss. The intra-familial phenotypic variation is due to variable penetrance, which is typical of this syndrome. The child with the most significant hearing loss showed lucency of the otic capsule on temporal bone CT. There is no evidence of

Jonathan A. Joseph; Toby Pillinger; Pieter M. Pretorius; Pablo Martinez-Devesa

2010-01-01

177

Why Metabolic Syndrome Matters  

MedlinePLUS

Why Metabolic Syndrome Matters Updated:Mar 13,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

178

Congenital rubella syndrome in Iran  

Microsoft Academic Search

BACKGROUND: Congenital rubella syndrome (CRS) can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear. The prevalence of CRS in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with sensorineural hearing loss attributable to

Jila Sadighi; Hasan Eftekhar; Kazem Mohammad

2005-01-01

179

Moyamoya, a nonspecific radiological syndrome  

Microsoft Academic Search

A child aged 5 1\\/2months was found by air encephalography, to have a hypothalamic tumor which was treated with Betatron radiation (5500 rads) over a period of 2 months. He suffered an acute right hemiplegia 6 months later and carotid angiography disclosed the radiological picture associated with Moyamoya disease. Nonetheless the clinical syndrome due, in this case to a hypothalamic

G. Debrun; J. Sauvegrain; J. Aicardi; F. Goutieres

1975-01-01

180

[Pregnancy and antiphospholipid syndrome].  

PubMed

Antiphospholipid syndrome (APS) is associated with a risk of obstetrical complications, affecting both the mother and the fetus. Obstetrical APS is defined by a history of three consecutive spontaneous miscarriages before 10 weeks of gestation (WG), an intra-uterine fetal death after 10 WG, or a premature birth before 34 WG because of severe pre-eclampsia, eclampsia or placental adverse outcomes (intrauterine growth retardation, oligohydramnios). Pregnancy in women with a diagnosis of obstetric APS is at increased risk for placental abruption, HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome and thrombosis that may be part of a catastrophic antiphospholipid syndrome (CAPS). A previous thrombosis and the presence of a lupus anticoagulant are risk factors for pregnancy failure. A multidisciplinary approach, associating the internist, the anesthesiologist and the obstetrician, is recommended for these high-risk pregnancies. Preconception counseling is proposed to identify pregnancy contraindications, and to define and adapt the treatment prior and during the upcoming pregnancy. Heparin and low-dose aspirin are the main treatments. The choice between therapeutic or prophylactic doses of heparin will depend on the patient's medical history. The anticoagulant therapeutic window for delivery should be as narrow as possible and adapted to maternal thrombotic risk. There is a persistent maternal risk in the postpartum period (thrombosis, HELLP syndrome, CAPS) justifying an antithrombotic coverage during this period. We suggest a monthly clinical and biological monitoring which can be more frequent towards the end of pregnancy. The persistence of notches at the Doppler-ultrasound evaluation seems to be the best predictor for a higher risk of placental vascular complications. Treatment optimization and multidisciplinary antenatal care improve the prognosis of pregnancies in women with obstetric APS, leading to a favorable outcome most of the time. PMID:22341691

Costedoat-Chalumeau, N; Guettrot-Imbert, G; Leguern, V; Leroux, G; Le Thi Huong, D; Wechsler, B; Morel, N; Vauthier-Brouzes, D; Dommergues, M; Cornet, A; Aumaître, O; Pourrat, O; Piette, J-C; Nizard, J

2012-04-01

181

Research Thinking of Low-intensity laser For the Treatment of Menopausal Syndrome  

Microsoft Academic Search

Female climacteric syndrome is a clinical syndrome due to autonomic nerve dysfunction occurring in women during climacteric period, which may affect their physical and mental health. Therefore, how to pass climacteric period for women without any problems, avoid or reduce the occurrence of climacteric syndrome, prevent geriatric diseases and improve life quality is a key issue now for great attention.

G. Z. Chen; Y. X. Xu; X. Y. Wang; S. H. Liu; L. J. Li

2011-01-01

182

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

183

Cowden syndrome.  

PubMed

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

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

2010-12-01

184

[Kallmann syndrome].  

PubMed

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

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

2011-10-01

185

Myelodysplastic syndromes.  

PubMed

Myelodysplastic syndromes are clonal marrow stem-cell disorders, characterised by ineffective haemopoiesis leading to blood cytopenias, and by progression to acute myeloid leukaemia in a third of patients. 15% of cases occur after chemotherapy or radiotherapy for a previous cancer; the syndromes are most common in elderly people. The pathophysiology involves cytogenetic changes with or without gene mutations and widespread gene hypermethylation at advanced stages. Clinical manifestations result from cytopenias (anaemia, infection, and bleeding). Diagnosis is based on examination of blood and bone marrow showing blood cytopenias and hypercellular marrow with dysplasia, with or without excess of blasts. Prognosis depends largely on the marrow blast percentage, number and extent of cytopenias, and cytogenetic abnormalities. Treatment of patients with lower-risk myelodysplastic syndromes, especially for anaemia, includes growth factors, lenalidomide, and transfusions. Treatment of higher-risk patients is with hypomethylating agents and, whenever possible, allogeneic stem-cell transplantation. PMID:24656536

Adès, Lionel; Itzykson, Raphael; Fenaux, Pierre

2014-06-28

186

Olmsted syndrome.  

PubMed

Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both palms and soles, surrounded by erythematous margins. Contraction of fingers and deep fissuring of the feet are common complications. Symmetrical, yellow-brown hyperkeratotic plaques and papules are also observed around body orifices such as the mouth, nares, inguinal region, and perianal and gluteal areas. Other clinical manifestations have been reported, including diffuse alopecia, thin nails, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, exaggerated keratosis pilaris, and large verrucous plaques in the axillae. In the differential diagnosis, other keratoderma and hyperkeratotic syndromes should be considered. PMID:7640195

Perry, H O; Su, W P

1995-06-01

187

Noonan Syndrome  

PubMed Central

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

BHAMBHANI, VIKAS; MUENKE, MAXIMILIAN

2014-01-01

188

Lemierre's syndrome  

PubMed Central

Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome.

2013-01-01

189

Brugada syndrome.  

PubMed

First described in 1992, Brugada syndrome is characterized by a specific electrocardiographic pattern in the right precordial leads and susceptibility to ventricular arrhythmias and sudden death. Brugada syndrome is included among the channelopathies, primary electrical disorders that, characteristically, are not associated with concomitant structural cardiac abnormalities. In recent years, substantial preclinical and clinical research has led to the identification of multiple causative mutations and to understanding of the mechanisms underlying the development of the characteristic phenotype and of the factors that determine clinical prognosis in patients. Nevertheless, there remain numerous unresolved questions which provide an impetus for ongoing active research into the condition. This article provides a summary of what is currently known about Brugada syndrome and an overview of the principal preclinical and clinical studies that have made the most significant contributions to our understanding of the condition. PMID:19889341

Benito, Begoña; Brugada, Josep; Brugada, Ramón; Brugada, Pedro

2009-11-01

190

Flammer syndrome  

PubMed Central

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

2014-01-01

191

Morbihan syndrome  

PubMed Central

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

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

2013-01-01

192

Trichorhinophalangeal syndrome.  

PubMed

Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation. PMID:7537130

Böni, R; Böni, R H; Tsambaos, D; Spycher, M A; Trüeb, R M

1995-01-01

193

[Fenton's syndrome].  

PubMed

The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomico-physiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of the capitate bone is not essential. According to both the literature and the personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a correct diagnosis of this lesion to avoid unnecessary attempts of reduction. PMID:2727333

Rimondi, E; Albisinni, U

1989-04-01

194

Marfan syndrome masked by Down syndrome?  

PubMed Central

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345-8.)

Vis, J.C.; van Engelen, K.; Timmermans, J.; Hamel, B.C.; Mulder, B.J.M.

2009-01-01

195

Hepatorenal syndrome  

Microsoft Academic Search

Hepatorenal syndrome is a functional and reversible cause of renal failure that can occur in patients with chronic liver disease and portal hypertension; some factors have been related on his etiology like the alteration in the balance of multiple vasoconstrictor or vasodilator endogenous substances that affect the renal vascular bed and systemic circulation. There are pharmacological strategies that can prevent

JANNETH LILIANA JARAMILLO; JORGE IGNACIO GARCÍA; JOSÉ NELSON CARVAJALMEDELLÍN

196

Bloom syndrome.  

PubMed

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

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

2014-07-01

197

Flatback syndrome.  

PubMed

Flatback syndrome is characterized by loss of normal lumbar lordosis, resulting in forward tilt of the trunk, inability to stand erect, back pain, and thigh pain from chronic hip flexion and knee bending. The usual etiology is iatrogenic, through previous fusions or with extension instrumentation. Surgical treatments described include extension osteotomy (Smith-Petersen), pedicle subtraction osteotomy, and polysegmental osteotomies. PMID:17556130

Lu, Daniel C; Chou, Dean

2007-04-01

198

Wells syndrome  

PubMed Central

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

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

2012-01-01

199

Malabsorption Syndromes  

Microsoft Academic Search

Background\\/Aims: Malabsorption syndromes commonly result from a pathological interference of the normal digestive process. There have been major advances in the last 4 years. The purpose of this review is to highlight in the form of a brief summary the most outstanding information available. Methods: The review was performed based on a medical literature search using MEDLINE (1993–1997), bibliographic reviews

Julio C. Bai

1998-01-01

200

Rud's syndrome.  

PubMed

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

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

2014-04-01

201

Rud's syndrome  

PubMed Central

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

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

2014-01-01

202

Withdrawal syndromes.  

PubMed

The pathophysiology of substance withdrawal is elucidated by a review of classic and cutting-edge research. The manifestation and evaluation of the associated withdrawal syndromes from ethanol, sedative-hypnotics, opioids, and baclofen, are compared. The general management of and pharmacotherapy for these patients are discussed. PMID:10767884

Olmedo, R; Hoffman, R S

2000-05-01

203

Nephrotic syndrome  

MedlinePLUS

... most often used. ACE inhibitors may also help decrease the amount of protein lost in the urine. You may take corticosteroids ... eating a moderate-protein diet (1 gram of protein per kilogram ... vitamin D supplements if nephrotic syndrome is long-term and not ...

204

Waardenburg syndrome.  

PubMed Central

Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives. Images

Read, A P; Newton, V E

1997-01-01

205

Startle syndromes  

Microsoft Academic Search

Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting

Roongroj Bhidayasiri; Daniel D. Truong

2011-01-01

206

Mirizzi syndrome.  

PubMed

Mirizzi syndrome is an important complication of gallstone disease. If not recognized preoperatively, it can result in significant morbidity and mortality. Preoperative diagnosis may be difficult despite the availability of multiple imaging modalities. Ultrasonography (US), CT, and magnetic resonance cholangiopancreatography (MRCP) are common initial tests for suspected Mirizzi syndrome. Typical findings on US suggestive of Mirizzi syndrome are a shrunken gallbladder, impacted stone(s) in the cystic duct, a dilated intrahepatic tree, and common hepatic duct with a normal-sized common bile duct. The main role of CT is to differentiate Mirizzi syndrome from a malignancy in the area of porta hepatis or in the liver. MRI and MRCP are increasingly playing an important role and have the additional advantage of showing the extent of inflammation around the gallbladder that can help in the differentiation of Mirizzi syndrome from other gallbladder pathologies such as gallbladder malignancy. Endoscopic retrograde cholangiopancreatography (ERCP) is the gold standard in the diagnosis of Mirizzi syndrome. It delineates the cause, level, and extent of biliary obstruction, as well as ductal abnormalities, including fistula. ERCP also offers a variety of therapeutic options, such as stone extraction and biliary stent placement. Percutaneous cholangiogram can provide information similar to ERCP; however, ERCP has an additional advantage of identifying a low-lying cystic duct that may be missed on percutaneous cholangiogram. Wire-guided intraductal US can provide high-resolution images of the biliary tract and adjacent structures. Treatment is primarily surgical. Open surgery is the current standard for managing patients with Mirizzi syndrome. Good short- and long-term results with low mortality and morbidity have been reported with open surgical management. Laparoscopic management is contraindicated in many patients because of the increased risk of morbidity and mortality associated with this approach. Endoscopic treatment may serve as an alternative in patients who are poor surgical candidates, such as elderly patients or those with multiple comorbidities. Endoscopic treatment also can serve as a temporizing measure to provide biliary drainage in preparation for an elective surgery. PMID:17391625

Ahlawat, Sushil K; Singhania, Rohit; Al-Kawas, Firas H

2007-04-01

207

The nutcracker syndrome.  

PubMed

Left renal vein (LRV) compression, commonly referred to as the nutcracker syndrome or renal vein entrapment syndrome, is a rare and often overlooked condition. Anatomically, the LRV traverses the space between the superior mesenteric artery and the aorta in close proximity to the origin of the artery. In affected individuals, the LRV is subjected to compression between these two structures, resulting in renal venous hypertension. A review of published data on this condition reveals either case reports or small case series. The classic symptoms of nutcracker syndrome include left flank pain with gross or microscopic hematuria. Patients are often children or young adults, with a slight predisposition for women who may also present with pelvic congestion symptoms such as pelvic pain and dyspareunia. Most patients have disease symptoms for many years and nondiagnostic investigations before proper diagnosis can be made. Appropriate diagnostic work-up and treatment may help alleviate patient morbidity from this chronic condition. Although surgical repair has been the standard of care, more recently endovascular intervention has become the first line of therapy. This tabular review compiles published cases in the adult population during the period between 1980 and 2009. PMID:21439772

Venkatachalam, Sridhar; Bumpus, Kelly; Kapadia, Samir R; Gray, Bruce; Lyden, Sean; Shishehbor, Mehdi H

2011-11-01

208

Guillain Barre syndrome in an HIV-1-infected patient after the beginning of combined antiretroviral therapy: an immune reconstitution inflammatory syndrome?  

PubMed

HIV-1-associated Guillan-Barre syndrome (hGBS) is an ascendant progressive polyradiculoneuropathy described throughout the course of the viral disease, mainly associated with the acute retroviral syndrome. HGBS is occasionally described in severely immunocompromised subjects in the context of the immune reconstitution inflammatory syndrome. The case described occurred soon after the start of a combined antiretroviral treatment in an HIV-1 infected patient with ulcerative colitis in the absence of severe immunosuppression. This manifestation may be interpreted as an uncommon appearance of an immune reconstitution syndrome in the presence of a predisposing autoimmune pathology. PMID:24531178

Fantauzzi, Alessandra; Digiulio, Maria Anna; Cavallari, Eugenio Nelson; d'Ettorre, Gabriella; Vullo, Vincenzo; Mezzaroma, Ivano

2014-01-01

209

Opsoclonus-myoclonus-ataxia syndrome in an AIDS patient.  

PubMed

We report the case of a 38-year-old woman with AIDS who developed opsoclonus-myoclonus-ataxia syndrome during a period different from other cases reported in literature. Opsoclonus-myoclonus-ataxia syndrome had already been reported as the initial neurological presentation of AIDS, as well as at the time of HIV-seroconversion and immune reconstitution syndrome. Our case is unique since the patient had an elevated CD4 count and negative viral load in the period when the opsoclonus-myoclonus-ataxia syndrome occurred. PMID:24488398

Vale, Thiago Cardoso; Silva, Rodrigo Alencar E; Cunningham, Mauro César Quintão E Silva; Maia, Débora Palma; Camargos, Sarah Teixeira; Cardoso, Francisco

2013-12-01

210

Munchausen syndrome by proxy.  

PubMed

This study examined the indicators of possible presence of Munchausen Syndrome by Proxy (MSBP) in pediatric inpatients discharged against-medical-advice (AMA), in cases transferred to another hospital, and in regular discharges. In a two-year period, there were fourteen AMA discharges and twenty-four transfer cases. These were compared to a randomly selected sample of forty-one regular discharges occurring during the same time period, matched for age, sex and pediatric service. The records were scored for the presence or absence of six MSBP characteristics, which had been developed from a review of MSBP literature. The findings indicated a suspicion for MSBP in 64 percent of the AMA cases, 8 percent of the transfer cases, and none in regular discharges. The findings suggest that AMA discharges need to be examined for the possible presence of MSBP. PMID:1293063

Jani, S; White, M; Rosenberg, L A; Maisami, M

1992-01-01

211

Rapunzel syndrome: The unsuspected culprit  

PubMed Central

Trichobezoar is a rare intriguing disorder in which swallowed hairs accumulates in the stomach. Being indigestible and slippery, it could not be propulsed and becomes entrapped within the stomach. Large amounts can thus accumulate over the years forming a hair ball. Rapunzel syndrome is a variant where hair accumulation reaches the small gut and beyond in some cases. Although the syndrome has been known for many years, only 24 cases have been reported in the literature and the discovery of a new case is always surprising. In this report, we present two cases discovered within a period of three months. One of them was pregnant and had small bowel intussusception and perforation, a very rare combination. We hereby add two more cases to the literature. To our knowledge, this is the first report on two cases of Rapunzel syndrome, the diagnosis of which demands a high index of suspicion.

Rabie, Mohammad Ezzedien; Arishi, Abdul Rahman; Khan, Ashraf; Ageely, Hussein; El-Nasr, Gaffar Abbas Seif; Fagihi, Mohammad

2008-01-01

212

Natural history of Rett syndrome.  

PubMed

Rett syndrome is a unique neurodevelopmental disorder, with onset of hypotonia, autistic tendency, and abnormalities of fine finger movements and gross movements of the arms in early infancy. Clinical features include specific age-dependent symptoms. Studies of early and late signs correlated locomotive dysfunction to language disability and stereotypy to regression of higher cortical functions. Studies of sleep parameters revealed early hypofunction of brainstem aminergic neurons and late occurrence of hypofunction of dopaminergic neurons, followed by receptor supersensitivity. The syndrome's pathophysiology suggests that early hypofunction of aminergic neurons interferes with the development of higher neuronal systems. Particular symptoms surface at different ages throughout the natural course of Rett syndrome, with regressional and static periods. PMID:16225833

Nomura, Yoshiko; Segawa, Masaya

2005-09-01

213

Fluency Disorders in Genetic Syndromes  

ERIC Educational Resources Information Center

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

Van Borsel, John; Tetnowski, John A.

2007-01-01

214

BRUGADA SYNDROME  

PubMed Central

Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. It is associated with ventricular fibrillation and a high risk for sudden cardiac death, predominantly in younger males with structurally normal hearts. Patients can remain asymptomatic, and electrocardiographic patterns can occur both spontaneously or after pharmacological induction. So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. Two consensus reports to define the diagnostic criteria, risk stratification, and management of patients have been published in the last few years. This brief review focuses on the recent clinical diagnosis, genetic basis, and advances in pharmacological treatment of Brugada syndrome.

2014-01-01

215

[Trichorhinophalangeal syndrome].  

PubMed

A girl with tricho-rhino-phalangeal syndrome is described. Besides clinical and radiologic symptoms of type I of this syndrome (short stature, pear-shaped nose, prominent and elongated philtrum, small carious teeth, thin and sparse hair, badly shaped laterally protruding ears, deep voice, cone-shaped phalangeal epiphyses as well as shortening of metacarpal and metatarsal bones) the patient exhibits a group of abnormalities characteristic for type II (broad nasal bridge, thicker septum, laterally postured nostrils, heavier eyebrows, mild deafness and epilepsy). The girl also has the symptoms of primary hypothyroidism because of the ectopic thyroid gland, the first recorded instance up to now, so it is probably a coincidence. PMID:8302139

Dumi?, M; Ille, J; Mikecin, M; Cvitkovi?, M; Hitrec, V; Potocki, K

1993-01-01

216

Marfan's syndrome.  

PubMed

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

Judge, Daniel P; Dietz, Harry C

2005-12-01

217

[Hepatorenal syndrome].  

PubMed

Hepatorenal syndrome is a severe complication of end-stage liver disease. The pathophysiological hallmark is severe renal vasoconstriction, resulting from peripheral and splanchnic vasodilation as well as activation of renal vasoconstrictor molecules, which induce the effective arterial volume reduction and the functional renal failure. The diagnosis of hepatorenal syndrome is currently based on the exclusion of other causes of renal failure (especially prerenal). Spontaneous bacterial peritonitis is one of the triggering factors and should be sought in all patients with severe liver disease and acute renal failure. Quickly treating patients with parental antibiotics and albumin infusion significantly decreases the risk. The combined use of intravenous albumin, splanchnic and peripheral vasoconstrictor and/or renal replacement therapy sometimes enables a delay until liver transplantation (or combined liver-kidney in selected patients). Transplantation is in fact the only way to improve the long-term prognosis. PMID:24388293

Pillebout, Evangéline

2014-02-01

218

Marfan's syndrome  

PubMed Central

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

Judge, Daniel P; Dietz, Harry C

2006-01-01

219

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

220

[Brugada syndrome].  

PubMed

Brugada syndrome is characterized clinically by the onset of syncopes or sudden death related to ventricular tachyarrhythmias in patients with a structurally normal heart. Its electrocardiographic features include right bundle branch bloc and ST-segment elevations in the precordial leads V1-V3. The estimated prevalence is 1 per 1000 in Asian countries and probably lower elsewhere: Asia is probably a birthplace of the syndrome. Its transmission is autosomal dominant with variable penetrance. Mutations have been identified in a gene coding for the alpha subunit of the sodium channel (SCN5A) in only 25% of cases. These genetic abnormalities cause a reduction of the density of the sodium current and explain the aggravation of electrocardiographic abnormalities caused by antiarrhythmic sodium channel blockers. Prognosis is very serious in symptomatic patients: prevention of sudden death requires implantation of an automatic defibrillator. The treatment decision is much more difficult for asymptomatic subjects with no family history. PMID:17446038

Denjoy, Isabelle; Extramiana, Fabrice; Lupoglazoff, Jean-Marc; Leenhardt, Antoine

2007-01-01

221

Dravet syndrome  

PubMed Central

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB). DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+).

Incorpora, Gemma

2009-01-01

222

Susac syndrome  

Microsoft Academic Search

PURPOSE: To report the first Japanese case of the Susac syndrome characterized by microangiopathy of the brain, retina, and cochlea.METHODS: Case report. A 36-year-old Japanese man underwent extensive clinical and laboratory examination for encephalopathy, bilateral recurrent branch retinal arterial occlusion, and hearing loss.RESULTS: This case was initially diagnosed as acute disseminated encephalomyelitis. Despite exhaustive clinical and laboratory examination of the

Yasuhiro Murata; Koichiro Inada; Akira Negi

2000-01-01

223

Susacs syndrome.  

PubMed

We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susac's syndrome. PMID:14968224

Lammouchi, Turkia M; Bouker, Samira M; Grira, Mounir T; Benammou, Sofien A

2004-02-01

224

Proteus Syndrome  

Microsoft Academic Search

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

Martino Ruggieri; Ignacio Pascual-Castroviejo

225

Mirizzi Syndrome  

Microsoft Academic Search

Opinion statement  The complete and definitive treatment of patients with Mirizzi syndrome is surgical. The treatment goals are the removal of\\u000a the gallbladder with the offending stone(s) and the repair of the bile duct defect. A high index of suspicion for early recognition\\u000a of this condition is paramount to prevent bile duct injury. Biliary anatomy is delineated precisely by preoperative and

Guillermo Gomez

2002-01-01

226

Kallmann syndrome  

Microsoft Academic Search

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

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

2009-01-01

227

Startle syndromes.  

PubMed

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

Bhidayasiri, Roongroj; Truong, Daniel D

2011-01-01

228

[Sjögren's syndrome].  

PubMed

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

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

1994-10-01

229

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

230

Carpal Tunnel Syndrome  

MedlinePLUS

... tunnel syndrome is a painful condition caused by compression of a key nerve in the wrist. It ... carpal tunnel syndrome. Another clinical study is collecting data about carpal tunnel syndrome among construction apprentices to ...

231

Craniofacial Syndrome Descriptions  

MedlinePLUS

... shaped (acrocephaly). Cleft Lip and/or Palate Craniosynostosis Crouzon syndrome Facial Cleft Facial Cleft is a rare ... Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • Crouzon syndrome • Facial palsy • Fibrous dysplasia • Frontonasal dysplasia • Hemangioma • ...

232

Crouzon Syndrome (Craniofacial Dysostosis)  

MedlinePLUS

... to submenu Parents & Individuals Information for Parents & Individuals Crouzon Syndrome To download the PDF version of this factsheet, click here What is Crouzon Syndrome? Crouzon syndrome, also called craniofacial dysostosis, is ...

233

Reye syndrome - resources  

MedlinePLUS

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

234

Fragile X Syndrome Overview  

MedlinePLUS

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

235

Fragile X Syndrome  

MedlinePLUS

... Was Just Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition ... females, and generally with greater severity. Features of Fragile X Syndrome in Males Read our Story The majority of ...

236

Down Syndrome: Eye Problems  

MedlinePLUS

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

237

Sexuality and Down Syndrome  

MedlinePLUS

... Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ... problems related to sexual function. Do Individuals with Down Syndrome Have Sexual Feelings? In the past, sexuality ...

238

National Reye's Syndrome Foundation  

MedlinePLUS

... around Reye's Syndrome and aspirin... Learn More The Foundation makes a special Reye's Syndrome Information package available ... help... Learn More Share: View National Reye's Syndrome Foundation's LinkedIn profile Spread Awareness with the Kids & Aspirin ...

239

Acrodysostosis syndromes  

PubMed Central

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

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

2012-01-01

240

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

241

Noonan syndrome.  

PubMed

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

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

242

Gitelman syndrome.  

PubMed

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

2013-01-01

243

Acrodysostosis syndromes.  

PubMed

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

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

2012-01-01

244

Hepatorenal syndrome.  

PubMed

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. PMID:23049205

Lata, Jan

2012-09-28

245

[Cockayne syndrome].  

PubMed

Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment. PMID:21342626

Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

2011-02-01

246

Roberts syndrome  

PubMed Central

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

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

2014-01-01

247

Compartment syndromes.  

PubMed

Compartment syndrome can be defined as increased tissue pressure within a closed myofascial space, resulting in disturbed microcirculation and the potential for irreversible neuromuscular ischemic damage. It may present either acutely or chronically. Acute compartment syndrome most commonly occurs following lower limb trauma, and emergency decompression through open and extensive fasciotomies is the treatment of choice. There is little place for imaging in the acute setting because the diagnosis should be made on clinical grounds, possibly supported by measurements of compartmental pressure. Chronic compartment syndrome is more common, usually presenting with recurrent episodes of pain on exercise. The demonstration of elevated compartment pressures following exercise is currently the gold standard method for diagnosis. There is increasing interest in the use of imaging as either a potential alternative to compartmental pressure measurement or as an initial screening investigation prior to invasive testing. The literature evaluating the use of imaging techniques is reviewed, with an emphasis on the potential role of postexertional magnetic resonance imaging. PMID:20486031

McDonald, Scott; Bearcroft, Philip

2010-06-01

248

Learning about Fragile X Syndrome  

MedlinePLUS

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

249

[Potassium channelopathies and Morvan's syndromes].  

PubMed

Interest in Morvan's disease or syndrome has grown, owing to its close links with various potassium channelopathies. Potassium is crucial for gating mechanisms (channel opening and closing), and especially for repolarization. Defective potassium regulation can lead to neuronal hyperexcitability. There are three families of potassium channels: voltage-gated potassium channels or VGKC (Kv1.1-Kv1.8), inward rectifier K+ channels (Kir), and two-pore channels (K2p). VGK channels are the commonest, and especially those belonging to the Shaker group (neuromyotonia and Morvan's syndrome, limbic encephalitis, and type 1 episodic ataxia). Brain and heart K+ channelopathies are a separate group due to KCNQ1 mutation (severe type 2 long QT syndrome). Kv7 channel mutations (in KNQ2 and KCNQ3) are responsible for benign familial neonatal seizures. Mutation of the Ca+ activated K+ channel gene causes epilepsy and paroxysmal dyskinesia. Inward rectifier K+ channels regulate intracellular potassium levels. The DEND syndrome, a treatable channelopathy of the brain and pancreas, is due to KCNJ1 mutation. Andersen's syndrome, due to KCNJ2 mutation, is characterized by periodic paralysis, cardiac arrythmia, and dysmorphia. Voltage-insensitive K2p channelopathies form a final group. PMID:21166127

Serratrice, Georges; Pellissier, Jean-François; Serra-Trice, Jacques; Weiller, Pierre-Jean

2010-02-01

250

Cyclic vomiting syndrome: treatment options.  

PubMed

Cyclic vomiting syndrome is a disorder characterized by recurrent episodes of severe nausea and vomiting separated by symptom-free periods. Our aims were to review treatments of adult cyclic vomiting syndrome as well as to identify areas for further clinical research and the unanswered questions in this field. We conducted a PubMed search using such keywords as "cyclic vomiting syndrome," "nausea," "vomiting," "treatment," "trigger factors" and "tricyclic antidepressants" and combined this information with the knowledge and clinical research from the authors. Available data show that in adult cyclic vomiting syndrome, there is an impressive and sustained response to high-dose tricyclic antidepressants. In up to 13 % who are regarded as poor responders to tricyclic antidepressants, a predictable profile can be identified related to coexisting psychological disorders, marijuana use, poorly controlled migraine headache or chronic narcotic use. Cyclic vomiting syndrome in adults is being an increasingly recognized entity. Tricyclic antidepressants are the main treatment for controlling symptoms. Eliminating and addressing trigger factors are an essential part of management. PMID:24862509

Hejazi, Reza A; McCallum, Richard W

2014-08-01

251

Sjogren-Larsson Syndrome  

MedlinePLUS

... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: SLS Ichthyosis, Spastic Neurological Disorder, and Oligophrenia ...

252

[Radiologic features of respiratory distress syndrome].  

PubMed

An analysis of roentgenograms of 50 patients with a respiratory distress-syndrome has shown that roentgenosemiotics of this complication discloses alterations of permeability of pulmonary and bronchial capillaries, drainage of liquid from the interstice and alveoli, hemodynamics in the microcirculation link of the lesser circulation circle. A classification of the respiratory distress-syndrome is proposed which includes 3 stages and a period of involution of the process. PMID:2638798

Beliakov, N A; Bobylev, N V; Obolenski?, S V; Trofimova, T N

1989-12-01

253

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.  

PubMed

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

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

2013-01-01

254

Hodgkin lymphoma and nephrotic syndrome in childhood.  

PubMed

An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. Since then a large number of cases have been published, few of them describing the link between Hodgkin disease (HD) and nephrotic syndrome (NS). It shows that the incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%. Till date, to the best of author's knowledge, there are about 50 pediatric cases published, no one among Italian children. In the present paper, the authors report 2 cases observed in their department in the 7 yrs period. PMID:20872097

Farruggia, Piero; Trizzino, Antonino; Maringhini, Silvio; Grigoli, Antonella; Sapia, Chiara; D'Alessandro, Mariella; Tropia, Serena; D'Angelo, Paolo

2010-10-01

255

Periodic Screening Evaluation  

Cancer.gov

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

256

Periodic Motion - The Pendulum  

NSDL National Science Digital Library

The objective of this activity is to teach students the concept of periodic motion and relate it to the movement of a pendulum. Students use different sized, colored bobs to test the effect of amplitude on period.

Lojkutz, Deborah

2005-02-07

257

Cyclic bicytopenia in a patient with shapiro syndrome.  

PubMed

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. PMID:24187634

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

2013-01-01

258

Coats syndrome in facioscapulohumeral dystrophy type 1  

PubMed Central

Objective: To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1). Methods: We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD referral centers in the United States and overseas to identify patients with genetically confirmed FSHD1 with a diagnosis of Coats syndrome. Results: Out of 357 genetically confirmed patients in a North American FSHD registry and 51 patients in the UR database, 3 patients had a self-reported history of Coats disease (0.8%; 95% confidence interval 0.2%–2.2%). In total, we identified 14 patients with FSHD with known genetic contraction size and Coats syndrome confirmed by ophthalmologic examination: 10 from our survey and 4 from the literature. The median age at diagnosis of Coats syndrome was 10 years (interquartile range 14 years). The median D4Z4 fragment size was 13 kilobases (kb) (interquartile range 1 kb). One patient was mosaic (55% 11 kb, and 45% 78 kb). Conclusions: Coats syndrome is a rare extramuscular complication of FSHD1 associated with large D4Z4 contractions. Closer surveillance for retinal complications is warranted in patients with D4Z4 fragments ?15 kb.

Sacconi, Sabrina; Farmakidis, Constantine; Donlin-Smith, Colleen M.; Chung, Mina; Tawil, Rabi

2013-01-01

259

[Marfan syndrome].  

PubMed

Marfan syndrome is a genetic disorder of the connective tissue caused by mutations in FBN1 gene. There are approximately 2-3,000 Marfan patients in The Netherlands. It has a broad clinical spectrum with features in most organ systems. Aortic root aneurysm is the most important clinical problem in these patients as it is progressive and leads to dissection and rupture if untreated. Endocarditis prophylaxis is indicated in all Marfan patients with aortic root aneurysm and operated patients. Timely diagnosis and specialized patient care are essential for the prognosis of this disease. PMID:24555249

Radonic, T

2013-12-01

260

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

2013-05-01

261

Hepatopulmonary syndrome.  

PubMed

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

Koch, David G; Fallon, Michael B

2014-05-01

262

Behçet syndrome.  

PubMed

We present a 34-year-old man with a two-year history of aphthous stomatitis, who later developed painful, erythematous nodules on his lower extremities. A pathergy test was positive, and the diagnosis of Behçet syndrome (BS) was made. It is important for the dermatologist to recognize the wide variety of cutaneous manifestations of this disorder. A pathergy test is a simple diagnostic tool that may assist in making a diagnosis. Case reports of other unusual skin manifestations in BS also are reviewed. PMID:21163169

Altiner, Ahmet; Mandal, Rajni

2010-01-01

263

Antisynthetase Syndrome  

Microsoft Academic Search

Autoantibodies to eight of the aminoacyl-transfer RNA synthetases—the most well-recognized of which is anti-histidyl (Jo-1)—have\\u000a all been implicated in the pathogenesis of antisynthetase syndrome (AS). AS is characterized by varying degrees of interstitial\\u000a lung disease, myositis, arthropathy, fever, Raynaud’s phenomenon, and mechanic’s hands, and the morbidity and mortality of\\u000a the disease are usually linked to the pulmonary findings. The value

Elena Katzap; Maria-Louise Barilla-LaBarca; Galina Marder

2011-01-01

264

Tourette Syndrome  

PubMed Central

Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine.

Murray, T. J.

1982-01-01

265

[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

266

Genealogy of Periodic Trajectories.  

National Technical Information Service (NTIS)

The periodic solutions of non-integrable classical Hamiltonian systems with two degrees of freedom are numerically investigated. Curves of periodic families are given in plots of energy vs. period. Results are presented for this Hamiltonian: H = 1/2(p/sub...

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

1986-01-01

267

The Periodic Pyramid  

ERIC Educational Resources Information Center

The chemical elements present in the modern periodic table are arranged in terms of atomic numbers and chemical periodicity. Periodicity arises from quantum mechanical limitations on how many electrons can occupy various shells and subshells of an atom. The shell model of the atom predicts that a maximum of 2, 8, 18, and 32 electrons can occupy…

Hennigan, Jennifer N.; Grubbs, W. Tandy

2013-01-01

268

Fragile X syndrome  

MedlinePLUS

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

269

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 ... being done? Clinical Trials Organizations What is Stiff-Person Syndrome? Stiff-person syndrome (SPS) is a rare ...

270

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 ...

271

Inherited cerebrorenal syndromes  

Microsoft Academic Search

Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene,

Scott J. Schurman; Steven J. Scheinman

2009-01-01

272

[Goldenhar syndrome].  

PubMed

The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination. PMID:760185

Hess, O M; Steurer, J; Goebel, N H; Kuhlmann, U; Krayenbühl, H P

1979-01-01

273

Periodic Limb Movement Disorder and Restless Legs Syndrome  

MedlinePLUS

... in some people. Opioids: An opioid such as oxycodone Some Trade Names OXYCONTIN may be used as a last resort because ... carbidopa dementia diazepam electromyography gabapentin levodopa narcolepsy opioids oxycodone polysomnography Back to Top Previous: Narcolepsy Next: Parasomnias ...

274

HAMARTOMATOUS POLYPOSIS SYNDROMES  

PubMed Central

Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis is necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and juvenile polyposis will be presented in this review.

Gammon, Amanda; Jasperson, Kory; Kohlmann, Wendy

2009-01-01

275

Burning mouth syndrome: update.  

PubMed

Burning Mouth Syndrome (BMS) is a chronic disorder that predominately affects middle-aged women in the postmenopausal period. The condition is distinguished by burning symptoms of the oral mucosa and the absence of any clinical signs. The etiology of BMS is complex and it includes a variety of factors. Local, systemic and psychological factors such as stress, anxiety and depression are listed among the possible causes of BMS. BMS may sometimes be classified as BMS Type I, II or III. Although this syndrome is not accompanied by evident organic alterations and it does not present health risks, it can significantly reduce the patient's quality of life. This study analyzes the available literature related to BMS, and makes special reference to its therapeutic management. The pages that follow will also discuss the diagnostic criteria that should be respected, etiological factors, and clinical aspects. We used the PubMed database and searched it by using the keywords "burning mouth syndrome", "BMS and review", and "burning mouth and review", in the title or abstract of the publication. BMS treatment usually steers towards the management of the symptoms; however, the specific local factors that could play a significant role in worsening the oral burning sensation should be eradicated. The most widely accepted treatment options that show variable results include tricyclic antidepressants, benzodiazepines and antipsychotic drugs; nevertheless there are other therapies that can also be carried out. Professionals that work in the field of dentistry should formulate standardized symptomatic and diagnostic criteria in order to more easily identify the most effective and reliable strategies in BMS treatment through multidisciplinary research. PMID:24984658

Spanemberg, Juliana Cassol; Rodríguez de Rivera Campillo, Eugenia; Salas, Enric Jané; López López, José

2014-06-01

276

Multiple periodicities in long-period variables  

Microsoft Academic Search

The variety of types of variability is reviewed. Special attention is paid to observations and mathematical models of one-harmonic, multi-harmonic, multi-frequency, multi-shift and quasi-periodic pulsations (cf. Andronov 1994). Methods of local smoothing are discussed and compared: running parabolae (Andronov 1997), running trigonometric polynomials (Chinarova et al., 1994), asymptotic parabolae (Marsakova and Andronov, 1996), splines (Andronov 1995) and ordinary polynomials are

I. L. Andronov

1998-01-01

277

Lymphatic dysplasia in a neonate with Noonan's syndrome.  

PubMed

We present the case of a patient with Noonan's syndrome and massive nonimmune hydrops fetalis in whom lymphangiography was performed in the neonatal period. This demonstrated generalised lymphatic dysplasia, and we suggest a mechanism by which the lymphatic abnormalities in Noonan's syndrome may arise. PMID:9094239

Bloomfield, F H; Hadden, W; Gunn, T R

1997-04-01

278

Ischemic stroke after cardiac pacemaker implantation in sick sinus syndrome  

Microsoft Academic Search

The risk of embolic stroke during sick sinus syndrome before cardiac pacemaker insertion is substantial, but stroke after pacemaker insertion has not been well studied. We observed 10 sick sinus syndrome patients who developed an ischemic stroke 4 days to 112 months after pacemaker insertion. Nine patients represented 6% of the 156 ischemic stroke patients observed during a 30-month period.

Marc Fisher; Carlos S. Kase; Barbara Stelle; Mills Roger M. Jr

1988-01-01

279

Non-Syndromic Recurrent Multiple Odontogenic Keratocysts: A Case Report  

PubMed Central

Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS). It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome.

Bartake, AR.; Shreekanth, NG.; Prabhu, S.; Gopalkrishnan, K.

2011-01-01

280

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

281

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

282

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

PubMed

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

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

2014-07-01

283

HTLV1-associated myelopathy\\/tropical spastic paraparesis accompanied with psoriasis  

Microsoft Academic Search

Two adult females developed HTLV-1-associated myelopathy\\/tropical spastic paraparesis (HAM\\/TSP) and psoriasis. Both showed chronic progressive paraparesis and sharply demarcated erythematous scaling plaques on their extremities and trunk. One patient had polymyositis while in the other anti-thyroid antibodies, antinuclear antibodies and SS-A antibody, all autoantibodies, were positive. Both patients were treated by intramuscular injections of interferon-? for 2 to 4 weeks,

Akihiro Watanabe; Masakazu Kawajiri; Koji Ikezoe; Manabu Osoegawa; Hiroyuki Murai; Hirofumi Ochi; Takayuki Taniwaki; Jun-ichi Kira

2004-01-01

284

HIV1 associated cognitive\\/motor complex in an injecting drug user  

Microsoft Academic Search

The clinical and social consequences of AIDS dementia complex\\/HIV-1 associated cognitive\\/motor complex (ADC\\/HACC) in drug users have not been well documented. The value of prospective serial neuropsychological, neuroradiological and neurophysiological measurements to assist diagnosis of ADC\\/HACC in patients with premorbid personality disorder and intercurrent drug use is demonstrated. The psychosocial problems resulting from ADC\\/HACC with respect to community care and

J. Maxwell; V. Egan; A. Chiswick; S. Burns; A. Gordon; D. Kean; R. P. Brettle; I. Pullen

1991-01-01

285

Periodic chiral structures  

NASA Technical Reports Server (NTRS)

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

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

1989-01-01

286

Rett Syndrome  

PubMed Central

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

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

2012-01-01

287

[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

288

Kallmann syndrome  

PubMed Central

The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states. These two genes are likely to be involved both in monogenic recessive and digenic/oligogenic KS transmission modes. Notably, mutations in any of the above-mentioned KS genes have been found in less than 30% of the KS patients, which indicates that other genes involved in the disease remain to be discovered.

Dode, Catherine; Hardelin, Jean-Pierre

2009-01-01

289

Myhre syndrome.  

PubMed

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

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

2014-06-01

290

Nodding Syndrome  

PubMed Central

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.

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.

2013-01-01

291

[Locomotive syndrome].  

PubMed

In Japan one of the major reasons the elderly need nursing care is disorders of the locomotive organs, which can make it difficult for a person to walk. People aged 65 and over now account for 23% of the population and by 2055 this figure will reach 41%. This situation will have great impact on the country's social systems. Japanese Orthopaedic Association (JOA) has coined the term "locomotive syndrome" to bring attention to the importance of locomotive organs. JOA developed a simple questionnaire to self-assess an individual's locomotive ability and easily practicable home exercises involving standing on one leg and half-squatting. This new concept has stimulated the awareness of society and shown ways to avoid possible disorders later in life. PMID:21774379

Nakamura, Kozo; Kawaguchi, Hiroshi

2011-07-01

292

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

2013-01-01

293

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

PubMed

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

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

2014-07-01

294

Reye syndrome in siblings.  

PubMed

Reye syndrome in siblings was seen in three of 85 families; the incidence of RS in these family groups appears to exceed that of the general population. The interval between development of RS in the first and second siblings was two to 11 days and related to the incubation period of the initial viral infection. In five of the children this infection was chickenpox and in two, an unspecified upper respiratory illness. To assess the role of genetic factors, HLA typing was performed on these siblings; a common genetic marker indicating susceptibility to RS was not identified. All families resided in rural and suburban areas; exposure to a common environmental toxin was not identified. PMID:430292

Hilty, M D; McClung, H J; Haynes, R E; Romshe, C A; Sherard, E S

1979-04-01

295

Cystic Duct Remnant Syndrome  

PubMed Central

Post-cholecystectomy syndrome (PCS) is a common manifestation in patients with cholecystectomy. The patients exhibit a heterogeneous group of symptoms, such as upper abdominal pain, vomiting, gastrointestinal disorders, jaundice, and dyspepsia. Choledocholithiasis, biliary dyskinesia, and dilation of cystic duct remnants are common causes of these symptoms. The symptoms can recur after a symptom-free period following cholecystectomy or they can persist after surgery. Ultrasonography, computed tomography (CT), and magnetic resonance imaging scan, which are non-invasive methods of imaging, have a high sensitivity in detecting the causes of PCS. We report a case of an 84-year-old lady who came to the Ultrasound Department with recurrent episodes of abdominal pain following cholecystectomy. The gray-scale sonography showed a dilated cystic structure, which was confirmed as the duct remnant in follow-up contrast-enhanced CT.

Perera, Eranga; Bhatt, Shweta; Dogra, Vikram S.

2011-01-01

296

The sinking bone syndrome?  

PubMed

Bone resorption is a known complication of cranioplasty after decompressive craniectomy (DC). A peculiar group of insidious, progressive, invalidating neurological symptoms was observed in patients presenting with incomplete resorption and abnormal mobility of the re-implanted bone. Such symptoms were similar, but with time more severe, to those encountered in the sinking flap syndrome. Are we facing a sort of Sinking Bone Syndrome? We accurately analyze these cases and review the literature. Over a 7-years period, 312 DCs were performed at our Institution. In 7 patients, headache, vertigo, gait ataxia, confusion, blurred speech, short-term memory impairment, hemiparesis, sudden loss of consciousness, and third cranial nerve palsy were observed in a time period ranging from 18 months to 5 years after cranioplasty. Clinical and neuroradiological examinations were performed to disclose the possible etiopathogenesis of this condition. Collected data showed partial resorption of the repositioned bone and its unnatural inward movements during postural changes. Bone movements were interpreted as the major cause of the symptoms. A new cranioplasty was then performed in every case, using porous hydroxyapatite in 6 patients and polyetherketone implant in the other. Full resolution of symptoms was always obtained 3 to 20 days after the second surgery. No further complications were reported. We believe that long-term follow up in patients operated on by cranioplasty after DC will be needed regularly for years after skull reconstruction and that newly appearing symptoms should never go underestimated or simply interpreted as a long-term consequence of previous brain damage. PMID:23708225

Di Rienzo, Alessandro; Iacoangeli, Maurizio; Alvaro, Lorenzo; Colasanti, Roberto; Dobran, Mauro; Di Somma, Lucia Giovanna Maria; Moriconi, Elisa; Scerrati, Massimo

2013-01-01

297

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

298

The progressive outer retinal necrosis syndrome.  

PubMed

The progressive outer retinal necrosis (PORN) syndrome is a recently described clinical variant of necrotizing herpetic retinopathy in patients with the acquired immunodeficiency syndrome (AIDS). It is caused by varicellazoster virus infection of the retina. Its course and clinical features distinguish it from the acute retinal necrosis syndrome and CMV retinopathy. Early disease is characterized by multifocal deep retinal opacification. Lesions rapidly coalesce and progress to total retinal necrosis over a short period of time. Despite aggressive therapy with intravenous antivirial drugs, prognosis is poor; disease progression and/or recurrence is common, and the majority of patients develop no light perception vision. Total retinal detachments are common. Prophylaxis against retinal detachment using laser retinopexy has not been useful in most cases. PORN syndrome is an uncommon, but devastating complication of AIDS. PMID:7852023

Holland, G N

1994-01-01

299

Science Sampler: Periodic Table  

NSDL National Science Digital Library

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

Galus, Pamela

2004-01-01

300

Model Valid Prediction Period  

Microsoft Academic Search

A new concept, valid prediction period (VPP), is presented here to evaluate model predictability. VPP is defined as the time period when the prediction error first exceeds a pre-determined criterion (i.e., the tolerance level). It depends not only on the instantaneous error growth, but also on the noise level, the initial error, and tolerance level. The model predictability skill is

P. C. Chu

2002-01-01

301

Drag Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome  

PubMed Central

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

McLeod, Michael; Torchia, Daniele; Romanelli, Paolo

2013-01-01

302

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

303

Ulnar tunnel syndrome.  

PubMed

Ulnar neuropathy at or distal to the wrist, the so-called ulnar tunnel syndrome, is an uncommon but well-described condition. However, diagnosis of ulnar tunnel syndrome can be difficult. Paresthesias may be nonspecific or related to coexisting pathologies, such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, C8-T1 radiculopathy, or peripheral neuropathy, which makes accurate diagnosis challenging. The advances in electrodiagnosis, ultrasonography, computed tomography, and magnetic resonance imaging have improved the diagnostic accuracy. This article offers an updated view of ulnar tunnel syndrome as well as its etiologies, diagnoses, and treatments. PMID:24559635

Chen, Shih-Heng; Tsai, Tsu-Min

2014-03-01

304

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

305

Kleine-Levin Syndrome Treated With Clarithromycin  

PubMed Central

Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by periodic hypersomnia and various degrees of cognitive and behavioral disturbance, hyperphagia, and hypersexuality. Effective treatment is challenging. Stimulants marginally address sleepiness, but may increase irritability and do not improve cognitive and behavioral disturbances. Modafinil may shorten the symptomatic period but not the recurrence rate. Lithium and carbamazepine are beneficial in some cases, possibly related to similarities between KLS and affective disorders. Currently, no single medication is consistently successful in treating the syndrome. Here we report the short-term effect of clarithromycin in a patient with KLS. Citation: Rezvanian E; Watson NF. Kleine-Levin syndrome treated with clarithromycin. J Clin Sleep Med 2013;9(11):1211-1212.

Rezvanian, Elham; Watson, Nathaniel F.

2013-01-01

306

Periodized Daubechies wavelets  

SciTech Connect

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

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

1996-03-01

307

Periodic boundary conditions  

NSDL National Science Digital Library

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

Iacovella, Christopher R.

2006-09-24

308

Angelman syndrome.  

PubMed

Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. PMID:23622177

Kyllerman, Mårten

2013-01-01

309

Boerhaave's syndrome.  

PubMed Central

Boerhaave's syndrome or spontaneous oesophageal perforation, is a potentially lethal and frequently elusive medical condition which presents not only a diagnostic but also a therapeutic challenge. It is insufficiently considered in diagnostic hypotheses, yet may be confirmed or excluded by simple methods such as an erect chest film and a contrast study of the oesophagus. Errors in diagnosis are usually caused by unawareness of its varied and atypical presentations or failure to consider its possibility in acute cardiothoracic and upper gastrointestinal conditions. Early aggressive surgical intervention in the form of open and wide mediastinal and chest drainage, with or without oesophageal repair, resection or exclusion, offers the patient the best chance of survival against this otherwise invariably fatal event. Nonoperative therapy consisting of antibiotics, nil oral regimen, nasogastric tube suction, pleural drainage, H2 receptor blockers and either a feeding enterostomy or total parenteral nutrition, may also be appropriate in selected patients. It is probable that the condition is more common than is generally supposed. All clinicians need to be aware of this lethal disease, its frequently unusual presentations and the importance of early diagnosis. Images Figure 1 Figure 2

Janjua, K. J.

1997-01-01

310

[Hepatorenal syndrome].  

PubMed

Hepatorenal syndrome (HRS) is a unique form of acute renal failure occurring in patients with advanced cirrhosis or acute liver failure. In patients with ascites the incidence of HRS is 8 % and in end-stage liver disease 75 % of patients suffer from HRS. Vasodilation of splanchnic arteries with subsequent decrease of effective blood volume, arterial pressure and renal vasoconstriction is hypothesized to be the central pathophysiological mechanism leading to acute renal failure. Moreover, cardiac output might be decreased in advanced cirrhosis. There are two types of HRS: while HRS type 1 is characterized by a rapid progression to acute renal failure often triggered by a precipitating event, e. g. bacterial peritonitis, which can rapidly develop into multiorgan failure, HRS type 2 shows a more steadily or slowly progressive course to renal failure with increasing ascites. Type 1 HRS has the worst prognosis. Treatment options include pharmacological treatment with vasoconstrictors and albumin and placement of transjugular intrahepatic portosystemic shunts (TIPS) but can only partially improve the survival rate. Liver transplantation is the ultimate and only definitive treatment of patients with HRS. PMID:23846211

Huschak, G; Kaisers, U X; Laudi, S

2013-07-01

311

Glucagonoma syndrome.  

PubMed

The glucagonoma syndrome is characterized by a necrolytic migratory erythematous rash, angular stomatitis, painful glossitis, a normochromic normocytic anemia, mild diabetes mellitus, weight loss, a tendency to thrombosis, and neuropsychiatric disturbances. The diagnosis is made by finding a high plasma glucagon concentration in the absence of any other cause, such as renal failure or severe stress. A pancreatic alpha-cell tumor can be identified and stained by immunocytochemistry with glucagon antibodies. Optimal treatment is surgical removal, but approximately 50 percent of the tumors have metastasized by the time of diagnosis. Since the tumor is slow-growing, remission can be obtained by hepatic artery embolization to shrink hepatic secondaries or by shrinkage, in about 10 percent of patients, with the combination chemotherapeutic regimen of 5-fluorouracil and streptozotocin. The rash frequently responds to administration of zinc, a high-protein diet, and control of the diabetes with insulin. Alongside the alpha cell in the islets of Langerhans is the D-cell, which produces somatostatin and may well act physiologically as a paracrine inhibitor of glucagon release. A newly developed, long-acting somatostatin analogue, SMS 201-995, which the patient can self-administer as a subcutaneous injection, has proven effective in suppressing glucagon secretion from glucagonomas and, in some cases, causing remission of clinical symptoms. PMID:2884877

Bloom, S R; Polak, J M

1987-05-29

312

Combination syndrome symptomatology and treatment.  

PubMed

Combination syndrome (CS) is one of the most fascinating oral conditions yet is poorly understood and underappreciated in the literature and clinical practice. This article reviews the most important literature on this subject and analyzes the etiology, symptomatology, diagnosis, and current therapeutic modalities for treatment in an attempt to better understand CS. The syndrome represents an example ofa complex pathologic condition of the entire stomatognathic system with a multitude of hard-tissue, soft-tissue, and occlusal changes. These changes, initiated by a certain sequence of events, beginning with a prolonged period of tooth loss, can lead to severe bone atrophy in different regions of the jaws, loss of masticatory function, and the need for complex treatment. Implant rehabilitation of these patients in a preventative approach with cooperation of the entire dental team is emphasized. PMID:21560744

Tolstunov, Len

2011-04-01

313

Neuroimmunological aspects of human T cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis.  

PubMed

Human T cell leukemia virus type 1 (HTLV-1) is a human retrovirus etiologically associated with adult T cell leukemia/lymphoma and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Only approximately 0.25-4 % of infected individuals develop HAM/TSP; the majority of infected individuals remain lifelong asymptomatic carriers. Recent data suggest that immunological aspects of host-virus interactions might play an important role in the development and pathogenesis of HAM/TSP. This review outlines and discusses the current understanding, ongoing developments, and future perspectives of HAM/TSP research. PMID:23943469

Saito, Mineki

2014-04-01

314

Development of a platelet-activating factor antagonist for HIV-1 associated neurocognitive disorders  

PubMed Central

The neuroregulatory activities of PMS-601, a platelet activating factor antagonist, were investigated in laboratory and animal models of HIV-1 encephalitis (HIVE). For the former, PMS-601 reduced monocyte-derived macrophage pro-inflammatory factors, multinucleated giant cell (MGC) formation, and neuronal loss independent of antiretroviral responses. PMS-601 treatment of HIVE severe combined immunodeficient mice showed reduced microgliosis, MGC formation and neurodegeneration. These observations support the further development of PMS-601 as an adjunctive therapy for HIV-1 associated neurocognitive disorders.

Eggert, Dawn; Dash, Prasanta K.; Serradji, Nawal; Dong, Chang-Zhi; Clayette, Pascal; Heymans, Francoise; Dou, Huanyu; Gorantla, Santhi; Gelbard, Harris A.; Poluektova, Larisa; Gendelman, Howard E.

2009-01-01

315

The hierarchical system of the the wind-blown shells around the CYG OB1 association  

NASA Astrophysics Data System (ADS)

The structure and kinematics of a gas-dust complex connected with the Cyg OB1 association and open clusters NGC 6913 and IC 4996 have been investigated. The authors have analysed the optical and radio brightness distribution along with the radial velocity field provided by the available observations in H?, CO, H I and recombination radio lines. Several new ring nebulae and/or cavities in CO-distribution around the WR and Of stars are distinguished. The authors have revealed an hierarchical system of "inclosed" shells.

Lozinskaya, T. A.; Sitnik, T. G.

1988-03-01

316

Graphing the Periodic Table  

NSDL National Science Digital Library

This interactive activity from the American Chemical Society presents the properties and electron configurations for all the elements in the periodic table. Discover patterns by plotting the elements' properties according to their place in the table.

Foundation, Wgbh E.

2007-08-09

317

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.

318

The Periodic Directional Filter.  

National Technical Information Service (NTIS)

The report presents computational methods for the analysis of periodically coupled transmission lines. Two methods are described for obtaining the scattering matrix of two cascaded four-port networks where the S-matrix of the individual networks are known...

K. Tsukada

1972-01-01

319

Time that Period!  

NSDL National Science Digital Library

In this activity, students learn to recognize periodicity within a set of data by using the examples of pendulums and binary star systems. Included are prerequisites, enrichment activities, materials lists, datasets, instructions, and links to additional information..

320

Acquired immunodeficiency syndrome with subacute sclerosing panencephalitis.  

PubMed

A 7-year-old boy with acquired immunodeficiency syndrome, receiving antiretroviral drugs for 2 years, presented with a recent onset of myoclonic jerks and cognitive deterioration. On examination, he manifested myoclonic jerks once every 10-15 seconds. His electroencephalogram indicated periodic complexes, and his cerebrospinal fluid tested positive for measles antibodies. PMID:23044024

Gowda, Vykuntaraju K N; Sukanya, V; Shivananda

2012-11-01

321

Myth vs. Fact: Wilson's Temperature Syndrome  

MedlinePLUS

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

322

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

323

The musculoskeletal manifestations of Werner's syndrome.  

PubMed

Werner's syndrome is a rare condition usually presenting as premature ageing in adults. Over a period of 30 years we have followed two siblings with extensive musculoskeletal manifestations including a soft-tissue tumour, insufficiency fractures, nonunion and tendonitis, with associated problems of management. The literature is reviewed. PMID:10990317

Walton, N P; Brammar, T J; Coleman, N P

2000-08-01

324

Orbital compartment syndrome following extracorporeal support.  

PubMed

Orbital compartment syndrome (OCS) is a rare, catastrophic, but potentially treatable complication. It requires prompt diagnosis and immediate intervention, as critical period for possible functional recovery is very short. This report adds to our understanding of potential mechanisms of perioperative blindness, and suggests extracorporeal circulatory support, systemic inflammatory response, and massive blood and fluid resuscitation as potential risk factors for perioperative OCS. PMID:23898881

Brodt, Jessica; Gologorsky, Daniel; Walter, Scott; Pham, Si M; Gologorsky, Edward

2013-09-01

325

Dummies and the sudden infant death syndrome  

Microsoft Academic Search

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

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

1993-01-01

326

Laboratory animals exhibiting obesity and diabetes syndromes  

Microsoft Academic Search

Spontaneous hyperglycemia, hyperinsulinemia and obesity are common features for at least one period of the lifetime in some strains of mice. Both genetic and environmental factors are involved in the pathogenesis of the diabetes-like syndrome, making these strains excellent models for studies in both obesity and diabetes-like states. The metabolic peculiarities can be due to a dominant gene, as for

Lieselotte Herberg; Douglas L. Coleman

1977-01-01

327

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

328

Coffin Lowry Syndrome  

MedlinePLUS

... NIH Patient Recruitment for Coffin Lowry Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Coffin-Lowry Syndrome Foundation 675 ...

329

Scalded skin syndrome  

MedlinePLUS

Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Staphylococcal Scalded Skin Syndrome (Ritter Disease). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders ...

330

Facts about Down Syndrome  

MedlinePLUS

... page: About CDC.gov . Birth Defects National Center Homepage Share Compartir Facts about Down Syndrome Down syndrome ... 888) 232-6348 Contact CDC-INFO Birth Defects Homepage Facts Diagnosis Preventing Birth Defects Specific Birth Defects ...

331

National Down Syndrome Society  

MedlinePLUS

... for Spanish speakers, including About Down Syndrome, Healthcare, Early Intervention, Therapies & Development, Education and more! Read More » My ... thinking about people with Down syndrome. Read More » Early Intervention The first years of life are a critical ...

332

Carpal Tunnel Syndrome  

MedlinePLUS

... tunnel syndrome, a painful progressive condition caused by compression of a key nerve in the wrist. What ... body's nerves and make them more susceptible to compression are also at high risk. Carpal tunnel syndrome ...

333

Immune Reconstitution Syndrome  

MedlinePLUS

... or an infection. However, most cases of immune restoration syndrome go away with continued HIV treatment. What’s ... is in the name of the syndrome: immune restoration. It is a sign that the immune system ...

334

Cardiopulmonary Syndromes (PDQ®)  

Cancer.gov

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

335

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 ...

336

Chronic fatigue syndrome - resources  

MedlinePLUS

Resources - chronic fatigue syndrome; CFS resources ... The following organizations provide information on chronic fatigue syndrome : CFIDS Association of America - www.cfids.org U.S. Centers for Disease Control and Prevention - www.cdc.gov/cfs

337

Chronic fatigue syndrome  

MedlinePLUS

CFS; Fatigue - chronic; Immune dysfunction syndrome; Myalgic encephalomyelitis (ME) ... The exact cause of chronic fatigue syndrome (CFS) is unknown. Some theories suggest CFS may be due to: Epstein-Barr virus or human herpes virus-6 (HHV- ...

338

Irritable bowel syndrome - aftercare  

MedlinePLUS

Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, ... Irritable bowel syndrome . NIH Publication No. 12-693. July 2012. ... Digestive Diseases Information Clearinghouse (NDDIC). Talley NJ. ...

339

Thoracic outlet syndrome  

MedlinePLUS

Thoracic outlet syndrome is a rare condition that involves pain in the neck and shoulder, numbness and tingling of ... with the nerves cause almost all cases of thoracic outlet syndrome. Pressure may happen if you have: An extra ...

340

Turner Syndrome (For Teens)  

MedlinePLUS

... of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome ... Turner syndrome, including kidney problems , high blood pressure , heart problems, overweight, hearing difficulties, diabetes , and thyroid problems . ...

341

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 ...

342

Adult fragile X syndrome  

Microsoft Academic Search

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

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

1985-01-01

343

What Causes Down Syndrome?  

MedlinePLUS

... FAQs NICHD Research Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: Page Content Down syndrome is caused by a random error in cell division that results in the presence ...

344

[Postpneumonectomy syndrome in adulthood].  

PubMed

A case of postpneumonectomy syndrome in a 50 years old patient, operated for right sided bronchiectasis 40 years ago, is presented. The clinical course and radiological features of the syndrome are described. PMID:16536007

Botnaru, V; Gavriliuc, A; Mihalache, Violeta; Margine, Daniela

2005-01-01

345

Carpal tunnel syndrome  

MedlinePLUS

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

346

Green Nail Syndrome  

MedlinePLUS

... Favorite Name: Category: Share: Yes No, Keep Private Green Nail Syndrome Share | Green nail syndrome (GNS) is an infection of the ... discoloration of nails, also known as chloronychia. The green discoloration varies from blue-green to dark green ...

347

Irritable Bowel Syndrome  

MedlinePLUS

... to minimize or prevent these symptoms. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a fairly common ... spite of it. What Are the Symptoms of IBS? All kids have an occasional stomachache, and most ...

348

Treacher-Collins syndrome  

MedlinePLUS

Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the ... Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). ...

349

Lennox-Gastaut Syndrome  

MedlinePLUS

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

350

Types of Myelodysplastic Syndromes  

MedlinePLUS

... myelodysplastic syndromes? Previous Topic What are myelodysplastic syndromes? Next Topic What are the key statistics about myelodysplastic ... be more helpful than the FAB classification in predicting prognosis (outlook). The WHO system recognizes 7 types ...

351

Cri du chat syndrome  

MedlinePLUS

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

352

What Causes Cushing's Syndrome?  

MedlinePLUS

... PMID 16378774 . [top] Mayo Clinic. (n.d.). Case detection of Cushing’s syndrome in adults . Retrieved April 8, ... linked to severe form of Cushing’s syndrome Two copies of mutant gene may trigger rare adrenal disorder ...

353

Miller Fisher's syndrome.  

PubMed

Miller Fisher's syndrome is a rare variant of Guillain-Barré's syndrome characterized by the acute development of ataxia, ophthalmoparesis, and areflexia. Most patients have a measureable antibody in serum directed against the GQ1b ganglioside. This antibody is also present in the serum of patients with other forms of Guillain-Barré's syndrome who have prominent ataxia or ophthalmoplegia as part of their clinical presentation. Miller Fisher's syndrome generally is self-limited and has an excellent prognosis. PMID:23677659

Teener, James W

2012-11-01

354

Effects of free fatty acids on glucose transport and IRS-1-associated phosphatidylinositol 3-kinase activity  

PubMed Central

To examine the mechanism by which free fatty acids (FFA) induce insulin resistance in human skeletal muscle, glycogen, glucose-6-phosphate, and intracellular glucose concentrations were measured using carbon-13 and phosphorous-31 nuclear magnetic resonance spectroscopy in seven healthy subjects before and after a hyperinsulinemic-euglycemic clamp following a five-hour infusion of either lipid/heparin or glycerol/heparin. IRS-1associated phosphatidylinositol 3-kinase (PI 3-kinase) activity was also measured in muscle biopsy samples obtained from seven additional subjects before and after an identical protocol. Rates of insulin stimulated whole-body glucose uptake. Glucose oxidation and muscle glycogen synthesis were 50%–60% lower following the lipid infusion compared with the glycerol infusion and were associated with a ?90% decrease in the increment in intramuscular glucose-6-phosphate concentration, implying diminished glucose transport or phosphorylation activity. To distinguish between these two possibilities, intracellular glucose concentration was measured and found to be significantly lower in the lipid infusion studies, implying that glucose transport is the rate-controlling step. Insulin stimulation, during the glycerol infusion, resulted in a fourfold increase in PI 3-kinase activity over basal that was abolished during the lipid infusion. Taken together, these data suggest that increased concentrations of plasma FFA induce insulin resistance in humans through inhibition of glucose transport activity; this may be a consequence of decreased IRS-1associated PI 3-kinase activity.

Dresner, Alan; Laurent, Didier; Marcucci, Melissa; Griffin, Margaret E.; Dufour, Sylvie; Cline, Gary W.; Slezak, Lori A.; Andersen, Dana K.; Hundal, Ripudaman S.; Rothman, Douglas L.; Petersen, Kitt Falk; Shulman, Gerald I.

1999-01-01

355

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

356

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

357

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

2013-11-01

358

Uveitis in Turner's syndrome  

Microsoft Academic Search

Background. Turner's syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turner's syndrome in the past, including one case only of proven iridocyclitis. Methods. In this study we report the clinical findings of three females with Turner's syndrome and uveitis

Massimo Accorinti; Maurizio La Cava; Stefania Speranza; Paola Pivetti-Pezzi

2002-01-01

359

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

360

Carpal Tunnel Syndrome  

MedlinePLUS

... 220-5446 Carpal Tunnel Syndrome Q: What is carpal tunnel syndrome (CTS)? A: Carpal tunnel syndrome (CTS) is the name for a group ... small bones that form a narrow groove or carpal tunnel. Tendons and a nerve called the median nerve ...

361

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 ...

362

Literary Factitious Epilepsy Syndromes.  

PubMed

Several factitious epileptic syndromes have been associated with famous literary characters. While these syndromes include symptoms other than pseudoseizures, and while pseudoseizures can occur in other syndromes, a review of these disorders provides insights into factitious seizures and epilepsy. PMID:12766697

Jones, Jeffrey M

2002-12-01

363

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

PubMed

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

Vilardell, Mireia; Civit, Sergi; Herwig, Ralf

2013-08-15

364

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.

365

[The main tunnel syndromes].  

PubMed

Several tunnel syndromes are responsible for substantial functional impairment. The diagnosis has to be made and treatment is most often very simple--nerve decompression--with excellent results. Of these syndromes, the most common are median and ulnar tunnel syndromes of the wrist and ulnar tunnel syndrome of the elbow, but other syndromes must be identified at the risk of therapy failure due to poorly adapted treatment. Finally, good knowledge of this pathology must lead to prevention of the iatrogenic forms (sequelae of inguinal hernia treatment, ileac crest graft harvesting) by educating all surgeons interested in peripheral nerve surgery. PMID:19800087

Lapierre, F; Buffenoir, K; Giot, J-P; Delmotte, A; Rigoard, P

2009-10-01

366

Haim-Munk syndrome  

PubMed Central

Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.

Pahwa, Priyanka; Lamba, Arundeep K.; Faraz, Farrukh; Tandon, Shruti

2010-01-01

367

Burning mouth syndrome.  

PubMed

Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. PMID:23201368

Crow, Heidi C; Gonzalez, Yoly

2013-02-01

368

[Postpartum endocrine syndrome].  

PubMed

Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome. PMID:18314279

Ducarme, G; Châtel, P; Luton, D

2008-05-01

369

Barth syndrome.  

PubMed

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

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

2013-01-01

370

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

371

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

372

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.  

PubMed

Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are age-dependent. We did not find any phenotypic features that allowed reliable differentiation between the two syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features. We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. PMID:11102925

Slavotinek, A M; Biesecker, L G

2000-11-27

373

HTLV-1-associated myelopathy/tropical spastic paraparesis accompanied with psoriasis.  

PubMed

Two adult females developed HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and psoriasis. Both showed chronic progressive paraparesis and sharply demarcated erythematous scaling plaques on their extremities and trunk. One patient had polymyositis while in the other anti-thyroid antibodies, antinuclear antibodies and SS-A antibody, all autoantibodies, were positive. Both patients were treated by intramuscular injections of interferon-alpha for 2 to 4 weeks, resulting in amelioration of paraparesis. After the therapy psoriasis and polymyositis markedly improved in one patient without any additional therapy, while in the other simultaneous use of topical corticosteroids was effective. This is the first report to describe occurrences of psoriasis in HAM/TSP patients. Although there are several reports indicating interferon-alpha induces or exacerbates psoriasis, our experience suggests that psoriasis associated with HAM/TSP can be successfully managed even during interferon-alpha therapy. PMID:15178221

Watanabe, Akihiro; Kawajiri, Masakazu; Ikezoe, Koji; Osoegawa, Manabu; Murai, Hiroyuki; Ochi, Hirofumi; Taniwaki, Takayuki; Kira, Jun-ichi

2004-06-15

374

Disseminated Strongyloides stercoralis infection in HTLV-1-associated adult T-cell leukemia/lymphoma.  

PubMed

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 later, the patient developed diarrhea, vomiting, fever, cough, skin rash, and a deteriorating mental status. She was diagnosed with disseminated S. stercoralis. Corticosteroids were discontinued and the patient received anthelmintic therapy with ivermectin and albendazole with complete clinical recovery. PMID:21474923

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

2011-01-01

375

Disseminated Strongyloides stercoralis Infection in HTLV-1-Associated Adult T-Cell Leukemia/Lymphoma  

PubMed Central

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 later, the patient developed diarrhea, vomiting, fever, cough, skin rash, and a deteriorating mental status. She was diagnosed with disseminated S. stercoralis. Corticosteroids were discontinued and the patient received anthelmintic therapy with ivermectin and albendazole with complete clinical recovery.

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

2011-01-01

376

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

PubMed

Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive soft tissue sarcomas that rarely occur in the general population but have a lifetime incidence of 8% to 13% in those with neurofibromatosis type 1 (NF1). Complete surgical resection is the standard treatment for MPNSTs. Unresectable MPNSTs carry a poor prognosis, and survival appears to be worse in NF1-associated tumors than in sporadic tumors. The response rate of MPNSTs to standard chemotherapeutic agents used to treat pediatric and adult soft tissue sarcomas is unknown and is currently undergoing evaluation in a multi-institutional clinical trial. With an increasing understanding of the molecular pathogenesis of MPNSTs, clinical trials with targeted agents have become available and have established that histology-specific trials in this rare malignancy are feasible. This knowledge, coupled with the availability of preclinical MPNST models, likely will accelerate the development of effective treatments for this malignancy. PMID:19508838

Widemann, Brigitte C

2009-07-01

377

Orion's Cloak - A rapidly expanding shell of gas centered on the Orion OB1 association  

NASA Technical Reports Server (NTRS)

The structure of the interstellar gas surrounding the Orion OB1 association and the neighboring lambda Orionis association is detailed. UV absorption lime spectra of various ionization stages of C, N, Si and S in the directions of 12 stars were obtained by means of the spectrometer on board the Copernicus satellite. The presence of a shell of material surrounding the two associations and expanding at 100 to 120 km/sec, designated Orion's Cloak, was revealed, together with sporadically occurring higher column density matter at lower velocities. Results are interpreted to indicate the presence of a rapidly moving radiative shock outside the H II region of the association stars and inside this feature, a lower velocity, higher column density cloud which appears to be directly ionized by association stars. It is suggested that the gas features are caused by the effects of a recent supernova and of multiple supernovae, stellar winds and rocket-accelerated clouds in addition to stellar ionization.

Cowie, L. L.; Songaila, A.; York, D. G.

1979-01-01

378

A cluster of HTLV-1 associated tropical spastic paraparesis in Equateur (Zaire): ethnic and familial distribution.  

PubMed Central

In Lisala, Equateur province, Zaire, 25 patients from 21 pedigrees were identified with human T-lymphotropic virus type 1 (HTLV-1) associated tropical spastic paraparesis (TSP). In the 10 (48%) pedigrees with additional genuine TSP cases established mainly by history, seven of 10 patients' mothers, no fathers or spouses, one of 59 surviving offspring, five of 105 siblings, and six other close blood relatives had TSP. A child may develop TSP before its mother. Three familial cases were in paternal relatives only. In total, 39 cases (11 men, 28 women) were identified in this population of about 50,000. Half were in the Mundunga minority of less than or equal to 10% (p less than 0.001). The data suggest maternal transmission of HTLV-1 and enhanced TSP susceptibility in those infected due to familial, probably genetic factors. Images

Kayembe, K; Goubau, P; Desmyter, J; Vlietinck, R; Carton, H

1990-01-01

379

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

PubMed Central

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

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

2013-01-01

380

Periods and Feynman integrals  

SciTech Connect

We consider multiloop integrals in dimensional regularization and the corresponding Laurent series. We study the integral in the Euclidean region and where all ratios of invariants and masses have rational values. We prove that in this case all coefficients of the Laurent series are periods.

Bogner, Christian [Institut fuer Physik, Universitaet Mainz, D-55099 Mainz (Germany); Department of Mathematical Sciences, University of Durham, Durham DH1 3LE (United Kingdom); Weinzierl, Stefan [Institut fuer Physik, Universitaet Mainz, D-55099 Mainz (Germany)

2009-04-15

381

Multifunctional periodic cellular metals  

Microsoft Academic Search

Periodic cellular metals with honeycomb and corrugated topologies are widely used for the cores of light weight sandwich panel structures. Honeycombs have closed cell pores and are well suited for thermal protection while also providing efficient load support. Corrugated core structures provide less efficient and highly anisotropic load support, but enable cross flow heat exchange opportunities because their pores are

Haydn N. G. Wadley

2006-01-01

382

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.

383

Astrophysical implications of periodicity  

NASA Astrophysics Data System (ADS)

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

Muller, Richard A.

384

Astrophysical implications of periodicity  

NASA Technical Reports Server (NTRS)

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

Muller, Richard A.

1988-01-01

385

Current Periodical Literature.  

ERIC Educational Resources Information Center

Presented is a bibliography of periodical literature on the following topics: the impact of science and technology, art and architecture, biography, computers, international science and technology, and development and modernization. Also presented is an annotated bibliography of children's books, books on economics, the environment, and the…

Haberer, Joseph, Ed.

1990-01-01

386

Long Period Seismic Waves.  

National Technical Information Service (NTIS)

A High-Gain Long-Period seismic station (ZLP) was installed in a tunnel 90m long in the Zongo Valley (16 deg 16 min 10.3 sec S, 68 deg 07 min 05.3 sec, 4397m asl), where daily barographic changes do not exceed 3 mbars, to obtain high quality data both for...

R. Cabre

1976-01-01

387

Disruption of IAP/SHPS-1 association inhibits pathophysiologic changes in retinal endothelial function in diabetic rats  

PubMed Central

Aims Our studies have shown that the association between integrin-associated protein (IAP) and SHPS-1 regulates the response of cells including osteoclasts, osteoblasts, smooth muscle and retinal endothelial cells to Insulin-like growth factor-I (IGF-I). The aims of this study were to determine whether the regulation of IGF-I responsiveness by IAP/SHPS-1 association is a generalized response of endothelial cells, to identify the mechanism by which IAP/SHPS-1 association contributes to changes in endothelial cell responses to IGF-I and to determine whether inhibiting their association alters pathophysiologic changes that occur in vivo. Methods and Results Endothelial cells, maintained in 5mmol/l glucose, showed constitutive cleavage of the extracellular domain of IAP (containing the SHPS-1 binding site) and IAP/SHPS-1 association was not detected. In contrast, hyperglycemia inhibited IAP cleavage allowing IAP/SHPS-1 association and IGF-I stimulated SHPS-1 tyrosine phosphorylation. Exposure to an anti-IAP antibody that disrupts IAP/SHPS-1 association inhibited IGF-I stimulated tube formation and increased permeability. Rodent models of endothelial cell dysfunction were used to investigate the role of IAP-SHPS-1 association in endothelial cell function in vivo. Basal IAP/SHPS-1 association was not detected in retinal extracts in normal rats but was fully restored in rats with diabetes. The anti-IAP antibody inhibited IAP/SHPS-1 association and reduced retinal vascular permeability and leukocyte adherence to levels that were similar to non-diabetic rats. The antibody also significantly inhibited aberrant neovascularization that was induced by hypoxia. Conclusions Our results demonstrate that the increase in IAP/SHPS-1 association contributes to the pathophysiologic changes in the endothelium that are induced by hyperglycemia and hypoxia.

Maile, L A.; Gollahon, K.; Wai, C.; Byfield, G.; Hartnett, M. E.; Clemmons, D.

2013-01-01

388

Flagella Promote Escherichia coli K1 Association with and Invasion of Human Brain Microvascular Endothelial Cells?  

PubMed Central

Escherichia coli containing the K1 capsule is the leading cause of gram-negative meningitis, but the pathogenesis of this disease is not completely understood. Recent microarray experiments in which we compared the gene expression profile of E. coli K1 associated with human brain microvascular endothelial cells (HBMEC) to the gene expression profile of E. coli K1 not associated with HBMEC revealed that there was a threefold increase in the expression of the fliI gene, encoding an ATP synthase involved in flagellar synthesis and motility, in HBMEC-associated E. coli. In this study, we examined the role of flagella in E. coli K1 association with and invasion of HBMEC by constructing isogenic ?flhDC, ?fliI, ?fliC, and ?cheW mutants that represented each class of flagellar genes. Mutations that affected the flagellum structure and flagellum formation (?flhDC, ?fliI, and ?fliC) resulted in significant defects in motility, as well as in HBMEC association and invasion, compared to the characteristics of the wild-type strain when preparations were examined with or without centrifugation. Transcomplementation with the corresponding genes restored the levels of these mutants to the levels of the parent strain. These findings suggest that the HBMEC association and invasion defects of the mutants are most likely related to flagella and less likely due to their motility defects. This conclusion was supported by our demonstration that the cheW mutant was not motile but was able to associate with and invade HBMEC. In addition, purified recombinant flagellin reduced the association of the wild-type strain with HBMEC by ?40%, while it had no effect on the fliC mutant's association with HBMEC. Together, these findings indicate that flagella promote E. coli K1 binding to HBMEC.

Parthasarathy, G.; Yao, Y.; Kim, K. S.

2007-01-01

389

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

PubMed

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

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

2013-01-01

390

DICER1 syndrome: a new cancer syndrome.  

PubMed

Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome. PMID:23625684

Schultze-Florey, R E; Graf, N; Vorwerk, P; Koscielniak, E; Schneider, D T; Kratz, C P

2013-05-01

391

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

392

Hypokalemic periodic paralysis  

PubMed Central

Hypokalemic periodic paralysis is a rare genetic disorder characterized by recurrent attacks of skeletal muscle weakness with associated hypokalemia which is precipitated by stress, cold, carbohydrate load, infection, glucose infusion, hypothermia, metabolic alkalosis, anesthesia, and steroids. We encountered one such incidence of prolonged recovery after general anesthesia, which on further evaluation revealed a case of hypokalemic paralysis. The key to successful management of such a patient was vigilant pre-operative evaluation, perioperative monitoring, and aggressive treatment of hypokalemia when it occurs.

Abbas, Haider; Kothari, Nikhil; Bogra, Jaishri

2012-01-01

393

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

394

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

395

Periodic patterns in biology  

Microsoft Academic Search

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

B. Hess

2000-01-01

396

Periodic minimal surfaces  

NASA Astrophysics Data System (ADS)

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

Mackay, Alan L.

1985-04-01

397

Periodic paralysis: understanding channelopathies.  

PubMed

Familial periodic paralyses are typical channelopathies (i.e., caused by functional disturbances of ion channel proteins). The episodes of flaccid muscle weakness observed in these disorders are due to underexcitability of sarcolemma leading to a silent electromyogram and the lack of action potentials even upon electrical stimulation. Interictally, ion channel malfunction is well compensated, so that special exogenous or endogenous triggers are required to produce symptoms in the patients. An especially obvious trigger is the level of serum potassium (K+), the ion responsible for resting membrane potential and degree of excitability. The clinical symptoms can be caused by mutations in genes coding for ion channels that mediate different functions for maintaining the resting potential or propagating the action potential, the basis of excitability. The phenotype is determined by the type of functional defect brought about by the mutations, rather than the channel effected, because the contrary phenotypes hyperkalemic periodic paralysis (HyperPP) and hypokalemic periodic paralysis (HypoPP) may be caused by point mutations in the same gene. Still, the common mechanism for inexcitability in all known episodic-weakness phenotypes is a long-lasting depolarization that inactivates sodium ion (Na+) channels, initiating the action potential. PMID:11898585

Lehmann-Horn, Frank; Jurkat-Rott, Karin; Rüdel, Reinhardt

2002-01-01

398

Kluver- Bucy syndrome - An experience with six cases  

Microsoft Academic Search

The Kluver-Bucy syndrome (KBS) is a neurobehavioral syn- drome and can be seen in association with a variety of neu- rological disorders. Case records of 6 patients with KBS seen during a period of 5 years in a university hospital were re- viewed. During the study period 6 patients with KBS, aged between 4 and 14 years, were seen. Hyperorality,

S. Jha; R. Patel

399

Prenatal Testing for Intellectual Disability: Misperceptions and Reality with Lessons from Down syndrome  

PubMed Central

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

2013-01-01

400

Acquired immunodeficiency syndrome in African patients.  

PubMed

Between May 1979 and April 1983, 18 previously healthy African patients were hospitalized in Belgium with opportunistic infections (cryptococcosis, Pneumocystis carinii pneumonia, central-nervous-system toxoplasmosis, progressive cutaneous herpes simplex virus infection, disseminated cytomegalovirus infection, candidiasis, or cryptosporidiosis) or Kaposi's sarcoma, or with both. Ten of them died. During the same period five other patients were hospitalized with an illness consistent with a prodrome of the acquired immunodeficiency syndrome (chronic lymphadenopathy, fever, weight loss, and diarrhea). All patients tested had a marked decrease in helper T cells; an inversion of the normal ratio of helper to suppressor T cells, and a decreased or absent blastogenic response of lymphocytes to mitogens. Twenty patients had anergy. There was no evidence of an underlying immunosuppressive disease and no history of blood-product transfusion, homosexuality, or intravenous-drug abuse. This syndrome in patients originating in Central Africa is similar to the acquired immunodeficiency syndrome reported in American patients. PMID:6229701

Clumeck, N; Sonnet, J; Taelman, H; Mascart-Lemone, F; De Bruyere, M; Vandeperre, P; Dasnoy, J; Marcelis, L; Lamy, M; Jonas, C

1984-02-23

401

Cerebellar cognitive affective syndrome.  

PubMed

There has been persistent uncertainty as to whether lesions of the cerebellum are associated with clinically significant disturbances of behavior and cognition. To address this question, 20 patients with diseases confined to the cerebellum were studied prospectively over a 7-year period and the nature and severity of the changes in neurological and mental function were evaluated. Neurological examination, bedside mental state testing, neuropsychological studies, and anatomic neuroimaging were administered at the time of presentation and during follow-up assessments. Behavioral changes were clinically prominent in patients with lesions involving the posterior lobe of the cerebellum and the vermis and, in some cases, overwhelmed other aspects of the presentation. These changes were characterized by an impairment of working memory, planning, set shifting, verbal fluency, abstract reasoning, and perseveration; visual-spatial disorganization, visual memory deficits, and logical sequencing; and a bland or frankly inappropriate affect. Lesions of the anterior lobe of the cerebellum produced only minor changes in executive and visual-spatial functions. This newly defined clinical entity is called the cerebellar cognitive affective syndrome. The constellation of deficits is suggestive of disruption of the cerebellar modulation of neural circuits than link frontal, parietal, temporal, and limbic cortices with the cerebellum. PMID:9378601

Schmahmann, J D; Sherman, J C

1997-01-01

402

Acute respiratory distress syndrome.  

PubMed

Acute respiratory distress syndrome (ARDS) is commonly associated with severe sepsis. While the criteria for diagnosis have evolved since the first description in 1967, the characteristics of hypoxemia, tachypnea, rapidly progressing acute respiratory failure, and poor lung compliance continue. Scoring systems have been developed in an effort to quantify the severity of lung injury, with the most recent being the Berlin Definition. This system attempts to define acute lung injury (ALI) and ARDS with more precision in terms of timing of disease onset, severity of disease, and chest radiograph findings. The number of reported cases of ALI/ARDS per year is lower in pediatric patients vs. adults; however, mortality rates continue to be high. Sepsis-related ARDS has a generally higher disease severity and poorer recovery period from lung injury with an increased mortality rate. ARDS results from an initial insult (direct and/or indirect) which triggers a series of cell-mediated responses leading to damage to the capillary endothelium, alveolar epithelium, and impaired fluid removal from the alveolar space. There is, however, gradual resolution of hypoxemia, lung function, and radiographic abnormalities in survivors of ARDS. Management of ARDS is mainly supportive with specific mechanical ventilation strategies and goal-directed therapies. Prevention of ventilator-induced lung injury (VILI) has been demonstrated to have a positive impact on outcomes in patients with ARDS. PMID:24295609

Monahan, Laura J

2013-01-01

403

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

404

Posterior nutcracker syndrome.  

PubMed

Renal vein compression syndromes are rare causes of hematuria and can be divided into anterior and posterior nutcracker syndrome. When the left renal vein is compressed between the aorta and the superior mesenteric artery it causes anterior nutcracker syndrome. The posterior nutcracker syndrome is very rare and is considered when the left renal vein is compressed between the aorta and vertebral column. Symptoms of nutcracker syndromes may include intermittent left flank pain associated with hematuria, proteinuria, and sometimes with symptoms of pelvic congestion. Diagnosis is often difficult and plan for treatment is always challenging and requires careful evaluation of the patient's history and workup findings. We present a rare case report of a posterior nutcracker syndrome diagnosed in a young lady with long-standing symptoms that required surgical intervention. PMID:21890560

Skeik, Nedaa; Gloviczki, Peter; Macedo, Thanila A

2011-11-01

405

Vasculitis in Sjögren's Syndrome.  

PubMed

Sjögren's syndrome is a chronic autoimmune disease that is commonly manifested by immune attack on the exocrine glands with resultant dry eyes and dry mouth. Sjögren's syndrome patients also have disease in other organs. One of the most common extraglandular manifestations is vasculitis. Skin vasculitis, with palpable purpura clinically and leukocytoclastic vasculitis on pathological examination, is common. Although half of those individuals with subcutaneous vasculitis have only a single episode, skin vasculitic involvement is associated with more severe disease. Necrotizing vasculitis of medium-sized vessels resembling polyarteritis nodosa can occur in Sjögren's syndrome patients. Experience in therapy for vasculitis is limited, but intravenous IgG may be effective. Recent data support a relationship between neuromyelitis optica (Devic disease) and Sjögren's syndrome. Sjögren's syndrome patients with optic neuritis or transverse myelitis have anti-aquaporin-4, which are characteristic of Devic disease. Devic disease patients have salivary lymphocytic infiltration similar to that found among Sjögren's syndrome patients. PMID:21870104

Scofield, R Hal

2011-12-01

406

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

407

Chronic active hepatitis in the type I polyglandular autoimmune syndrome.  

PubMed Central

Type I polyglandular autoimmune syndrome is characterized by the triad of hypoparathyroidism, Addison's disease and chronic mucocutaneous candidiasis. Chronic active hepatitis has been associated with this syndrome but its incidence and severity have not been well documented. We describe a sibship of two patients with type I polyglandular autoimmune syndrome who presented with autoimmune chronic active hepatitis. The first patient presented to us with advanced disease and died despite an emergent liver transplant, while the second patient responded to steroids. Autoimmune chronic active hepatitis, a major cause of mortality in this syndrome, can present without symptoms or physical signs of liver disease. We suggest periodic screening of liver enzymes in subjects with this syndrome. Images Figure 1 Figure 2

Michele, T. M.; Fleckenstein, J.; Sgrignoli, A. R.; Thuluvath, P. J.

1994-01-01

408

Genetics Home Reference: Aicardi syndrome  

MedlinePLUS

... called Klinefelter syndrome. Read more about Klinefelter syndrome . Where can I find information about diagnosis or management ... genetics professional in my area? in the Handbook. Where can I find additional information about Aicardi syndrome? ...

409

Alzheimer's Disease and Down Syndrome  

MedlinePLUS

... Toddlers & Young Children Speech & Language Therapy for Children & Adolescents with Down Syndrome Toilet Training Children with Down Syndrome Wellness Nutrition Healthy Eating Habits in Children with Down Syndrome Weight Management for ...

410

Genetics Home Reference: Crouzonodermoskeletal syndrome  

MedlinePLUS

... overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the ... nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome are usually of normal ...

411

Genetics Home Reference: Crouzon syndrome  

MedlinePLUS

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

412

Genetics Home Reference: Pfeiffer syndrome  

MedlinePLUS

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

413

Genetics Home Reference: Apert syndrome  

MedlinePLUS

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

414

Genetics Home Reference: Larsen syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Larsen syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed September 2011 What is Larsen syndrome? Larsen syndrome is a disorder that affects ...

415

Genetics Home Reference: Kallmann syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Kallmann syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed August 2008 What is Kallmann syndrome? Kallmann syndrome is a condition characterized by delayed ...

416

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

417

Townes-Brocks syndrome  

PubMed Central

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.???Keywords: Townes-Brocks syndrome; chromosome 16q12.1; SALL1

Powell, C.; Michaelis, R.

1999-01-01

418

Thoracic outlet syndromes  

Microsoft Academic Search

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

Harold C. Urschel; Amit Patel

2003-01-01

419

Cubital tunnel syndrome  

PubMed Central

Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital tunnel syndrome was reviewed, and key papers on upper limb and hand surgery were discussed with colleagues.

Cutts, Steven

2007-01-01

420

Neurocutaneous vascular syndromes  

Microsoft Academic Search

There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including\\u000a the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica\\u000a congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new\\u000a genetic mutations such as RASA-1. There have also

Katherine B. Puttgen; Doris D. M. Lin

2010-01-01

421

The glucagonoma syndrome.  

PubMed

The glucagonoma syndrome is characterized by necrolytic migratory erythema, glossitis, ungual dystrophy, diabetes mellitus, anemia, weight loss, elevated plasma glucagon levels and an alpha-cell glucagon-secreting neoplasm of the pancreas. We are reporting a case of this syndrome in a middle-aged woman, in whom the first complaints and signs were cutaneous. The recognition of the distinctive skin manifestations of the syndrome led to early diagnosis and treatment of the underlying malignant pancreatic tumor. PMID:204668

Shupack, J L; Berczeller, P H; Stevens, D M

1978-03-01

422

[Cytomegalovirus nephrotic syndrome].  

PubMed

The case of a 5 months old infant with a nephrotic syndrome after neonatal cytomegalovirus infection is reported. Genomic amplification nested-PCR for CMV was positive in renal biopsy. Treatment with gancyclovir was effective to maintain nephrotic syndrome remission. We stresses the importance to discharge an infections cause of the nephrotic syndrome of newborns and infants due to the possibility on curative treatment. PMID:14658172

Berbel, O; Vera-Sempere, F; Córdoba, J; Zamora, I; Simón, J

2003-01-01

423

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

424

Controls on geyser periodicity.  

PubMed

Geyser eruption frequency is not constant over time and has been shown to vary with small (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. PMID:17757358

Ingebritsen, S E; Rojstaczer, S A

1993-11-01

425

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

PubMed Central

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

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

2013-01-01

426

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.  

PubMed

Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally imposed upon them, thereby conferring a selective (proliferative) advantage at the cellular level. Neurofibromatosis type-1 (NF1) affects 1/3,000-4,000 individuals worldwide and is caused by the inactivation of the NF1 tumour suppressor gene, which encodes the protein neurofibromin. Consistent with Knudson's two-hit hypothesis, NF1 patients harbouring a heterozygous germline NF1 mutation develop neurofibromas upon somatic mutation of the second, wild-type, NF1 allele. While the identification of somatic mutations in NF1 patients has always been problematic on account of the extensive cellular heterogeneity manifested by neurofibromas, the classification of NF1 somatic mutations is a prerequisite for understanding the complex molecular mechanisms underlying NF1 tumorigenesis. Here, the known somatic mutational spectrum for the NF1 gene in a range of NF1-associated neoplasms - including peripheral nerve sheath tumours (neurofibromas), malignant peripheral nerve sheath tumours, gastrointestinal stromal tumours, gastric carcinoid, juvenile myelomonocytic leukaemia, glomus tumours, astrocytomas and phaeochromocytomas - have been collated and analysed. PMID:22155606

Laycock-van Spyk, Sebastian; Thomas, Nick; Cooper, David N; Upadhyaya, Meena

2011-10-01

427

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

428

Kebab: Kinetochore and EB1 Associated Basic Protein That Dynamically Changes Its Localisation during Drosophila Mitosis  

PubMed Central

Microtubule plus ends are dynamic ends that interact with other cellular structures. Microtubule plus end tracking proteins are considered to play important roles in the regulation of microtubule plus ends. Recent studies revealed that EB1 is the central regulator for microtubule plus end tracking proteins by recruiting them to microtubule plus ends through direct interaction. Here we report the identification of a novel Drosophila protein, which we call Kebab (kinetochore and EB1 associated basic protein), through in vitro expression screening for EB1-interacting proteins. Kebab fused to GFP shows a novel pattern of dynamic localisation in mitosis. It localises to kinetochores weakly in metaphase and accumulates progressively during anaphase. In telophase, it associates with microtubules in central-spindle and centrosomal regions. The localisation to kinetochores depends on microtubules. The protein has a domain most similar to the atypical CH domain of Ndc80, and a coiled-coil domain. The interaction with EB1 is mediated by two SxIP motifs but is not required for the localisation. Depletion of Kebab in cultured cells by RNA interference did not show obvious defects in mitotic progression or microtubule organisation. Generation of mutants lacking the kebab gene indicated that Kebab is dispensable for viability and fertility.

Meireles, Ana M.; Dzhindzhev, Nikola S.; Ohkura, Hiroyuki

2011-01-01

429

Systems biology approaches reveal a specific interferon-inducible signature in HTLV-1 associated myelopathy.  

PubMed

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

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

2012-01-01

430

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

PubMed Central

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

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

2012-01-01

431

IUE Spectrophotometric Cencus of Orion OB1 Association B Stars, II  

NASA Astrophysics Data System (ADS)

This program is designed to study, using low dispersion IUE spectra, the prevalence of the silicon abundance anomaly among the B stars of the Orion OB1 association, a sample of fundamental importance in the study of the role of nonthermal processes in early-type stellar structure and evolution. The SWP images will be used spectrophotometrically to measure the strength of the broad continuum absorption feature at 1400 A, which is implicated as an autoionization feature of Si II and which has decisive advantages over optical spectrographic or photometric techniques for identifying Si stars. The primary goal of the proposed observations is to isolate unambiguously the Orion OB1 silicon stars. The improved specification of this sample will contribute directly to the interpretation of existing magnetic and rotational surveys of the Orion stars. As secondary goal is to improve the observational determination of the minimum time required for development of the silicon anomaly. Without a firm value for this number, the most important constraint on the radiative diffusion model is lacking. In addition, the comparison of the results of this proposed observation will be to determine the character of the correlation between the optical 5200 A feature and the silicon abundance and/or magnetic field strength. That calibration will allow the optical continuum feature to be used in a statistically dependable fashion in the future. Sufficient shifts were allocated during the Eighth Episode to observe roughly half the program stars. The current proposal is for the completion of the statistical sample.

Brown, Douglas N.

432

Brown-Vialetto-Van Laere syndrome.  

PubMed

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

Sathasivam, Sivakumar

2008-01-01

433

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 ...

434

Paraneoplastic neurological syndromes.  

PubMed

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

Leypoldt, F; Wandinger, K-P

2014-03-01

435

Organic brain syndrome  

MedlinePLUS

OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Disorders associated with OBS include: Brain injury caused by ... the space around the brain ( subarachnoid hemorrhage ) Blood clot ...

436

[Upper airway resistance syndrome].  

PubMed

Upper Airway Resistance Syndrome (UARS) is characterized with daytime sleepiness and cardiovascular disturbances, because of the repetitive increase of upper airway resistance leading to arousals. UARS, can easily be overlooked because the conventional polysonographic measurements are not sensitive enough to diagnose this syndrome, therefore the prevalence and morbidity of this syndrome is not known. Measuring the increased inspiratory effort by an esophageal balloon during the rising upper airway resistance is the gold standard technique for the diagnosis. Treatment of UARS is similar with Obstructive Sleep Apnea Syndrome (OSAS). In this article the clinical picture, diagnosis, and management of the UARS is reviewed. PMID:15143431

Köktürk, O?uz; Güven, Selma Firat

2003-01-01

437

Wernicke-Korsakoff syndrome  

MedlinePLUS

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

438

The Disuse Syndrome  

PubMed Central

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

Bortz II, Walter M.

1984-01-01

439

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

440

Genetics Home Reference: Clouston syndrome  

MedlinePLUS

... Clouston syndrome? acids ; alopecia ; autosomal ; autosomal dominant ; cell ; channel ; connexin ; dysplasia ; gap junctions ; gene ; ions ; mutation ; potassium ; prevalence ; protein ; puberty ; syndrome You may ...

441

Of mice and men, periodic limb movements and iron: how the human genome informs the mouse genome.  

PubMed

The gene, BTBD9, was recently linked to restless legs syndrome, periodic limb movements and iron status in humans. In a homologous region in mouse, an area containing btbd9 was also identified as being related to iron homeostasis. This finding is important as iron status in brain has been implicated in restless legs syndrome. PMID:18363860

Jones, L C; Earley, C J; Allen, R P; Jones, B C

2008-07-01

442

Nonarteritic ischemic optic neuropathy developed after capsular block syndrome  

PubMed Central

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

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

2014-01-01

443

Compartment Syndrome in Open Tibial Fractures*t  

Microsoft Academic Search

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

SAMUEL S. BLICK; ROBERT J. BRUMBACK; ATTILA POKA; ANDREW R. BURGESS; NABIL A. EBRAHEIM

444

[Epidural analgesia with clofelin in treating a pain syndrome].  

PubMed

The article presents a clinical experience with using epidural analgesia with Clofelin in 20 patients to arrest the pain syndrome developed at the postoperative period and resulting from atherosclerotic lesions of the lower extremity vessels. Control of the adequacy of anesthesia was made by registration of the H-reflex value. The investigations have shown that epidural analgesia with Clofelin is an effective measure to arrest the pain syndrome. PMID:1668948

Bulganin, A D; Kuznetsova, O Iu; Mikha?lovich, V A

1991-01-01

445

Chediak-Higashi Syndrome with Progressive Visual Loss  

Microsoft Academic Search

Background: The change of visual function in Chediak-Higashi syndrome has not been well described.Cases: The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations.Observations: A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were observed. The visual loss and the constriction

Kaori Sayanagi; Takashi Fujikado; Takashi Onodera; Yasuo Tano

2003-01-01

446

A Down syndrome patient treated by peritoneal dialysis.  

PubMed

Down syndrome patients are apparently not suited for peritoneal dialysis because of lacking cooperation. We report on an adult Down syndrome patient living in a difficult social environment suffering from ESRD due to posterior urethral valve. Comorbid conditions include decreased left ventricular function, hepatitis B carrier stage and hypothyroidism. The committed mother of the patient treats the patient successfully by peritoneal dialysis for a period of two years without episode of peritonitis. PMID:12218338

Hausmann, Michael J; Landau, Daniel

2002-10-01

447

[Advances of studies on acupuncture and moxibustion for perimenopausal syndrome].  

PubMed

The literatures are retrieved in the Chinese science and technology periodical database of VIP (1989-2009). The clinical application and its mechanism of perimenopausal syndrome treated with acupuncture and moxibustion are summarized. The summarized literatures indicate that body acupuncture, auricular acupuncture, acupoint catgut embedding and combined therapy are used in acupuncture and moxibustion for treatment of perimeno-pausal syndrome. The research of mechanism includes regulation of nerve-endocrine-immunity net, regulation of free radical metabolism, regulation of blood lipid and bone metabolism. The literatures suggest that acupuncture and moxibustion has definite therapeutic effect on perimenopausal syndrome with advantages of convenience, lower cost and safety. PMID:20496744

Chen, Yin-ying; Ma, Liang-xiao; Zhu, Jiang

2010-03-01

448

Irritable Bowel Syndrome.  

PubMed

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

Wald

1999-02-01

449

Evidence for Decreased Expression of ADAMTS-1 Associated With Impaired Oocyte Quality in PCOS Patients.  

PubMed

Context: Polycystic ovary syndrome (PCOS) is the most common cause of dysfunctional ovulation-affecting female fertility. A disintegrin and metalloproteinase with thrombospondin-like motifs (ADAMTS-1) is required for normal ovulation and subsequent fertilization, and the expression of ADAMTS-1 may be altered in PCOS granulosa cell (GC)-reflecting abnormalities in ovulatory signaling. Objective: The purpose of this paper is to analyze the differential expression of ADAMTS-1 in PCOS patients associated with impaired oocyte quality. Design and Setting: A prospective comparative experimental study was performed at a clinical reproductive medicine center. Patients: Women with PCOS (n = 40) and normovulatory controls (n = 40) undergoing controlled ovarian hyperstimulation and in vitro fertilization were recruited in our study. Main Outcome Measures: Differential expression of ADAMTS-1 in GCs was analyzed with immunocytochemistry in PCOS patients and normal controls, and ADAMTS-1 mRNA expression was quantified by RT-PCR. Furthermore, the correlation between ADAMTS-1 mRNA and oocyte quality was analyzed. Results: The expression of ADAMTS-1 was decreased in PCOS patients compared with normally ovulating women and was closely related to lower oocyte recovery, oocyte maturity, and fertilization rate. Conclusion: Our study provides evidence that the dysregulated expression of ADAMTS-1 in PCOS may influence oocyte quality-via GCs-oocyte paracrine and endocrine mechanism. PMID:24646063

Xiao, Shan; Li, Yubin; Li, Tao; Chen, Minghui; Xu, Yanwen; Wen, Yangxing; Zhou, Canquan

2014-06-01

450

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

451

Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.  

PubMed

We report on the allele distribution in a normal Chilean population at 2 microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5' end of the FMR-1 gene, which causes the fragile X syndrome. The most common CGG repeat allele was 30 (41.7%), with 29 being second most common (30.2%). This distribution was similar from that seen in Caucasians but different from that observed in Chinese controls, where the most common allele was 29 repeats. Four alleles of FRAXAC1 and 6 of DXS548 were observed in the Chilean sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed. In 90% of the 30 CGG repeat alleles only 31% of the 29 CGG repeat alleles had the FRAXAC1 154 bp allele. This result is in agreement with the suggestion that slippage between CGG repeat alleles 29 and 30 and between 152 and 154 FRAXAC1 alleles is very rare. This study suggests a founder chromosome effect in the Chilean population. PMID:9475597

Jara, L; Aspillaga, M; Avendaño, I; Obreque, V; Blanco, R; Valenzuela, C Y

1998-01-23

452

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

453

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

PubMed

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

Gessain, A; Mahieux, R

2012-03-01

454

Periodically driven holographic superconductor  

NASA Astrophysics Data System (ADS)

As a first step towards our holographic investigation of the far-from-equilibrium physics of periodically driven systems at strong coupling, we explore the real time dynamics of holographic superconductor driven by a monochromatically alternating electric field with various frequencies. As a result, our holographic superconductor is driven to the final oscillating state, where the condensate is suppressed and the oscillation frequency is controlled by twice of the driving frequency. In particular, in the large frequency limit, the three distinct channels towards the final steady state are found, namely under damped to superconducting phase, over damped to superconducting and normal phase, which can be captured essentially by the low lying spectrum of quasi-normal modes in the time averaged approximation, reminiscent of the effective field theory perspective.

Li, Wei-Jia; Tian, Yu; Zhang, Hongbao

2013-07-01

455

Multicomponent periodic nanoparticle superlattices.  

SciTech Connect

In this article, we review the state-of-the-art in the preparation and characterization of multicomponent self-assembled superlattices of colloidal nanoparticles with core sizes in the range of 2-20 nm and interparticle spacing less than 2 nm down to intimate contact stemming from sintering. Several aspects of the field are discussed, including: structural organization, the role of particle size distribution, key interparticle forces at play, and methods of investigation of the structures. Contrary to the extensively studied colloidal crystals composed of microscale particles, the nanoparticles possess unique size-dependent properties, such as electronic, optical, or magnetic, which when combined into periodic structures can potentially lead to new collective states stemming from precise positioning of the nanocolloids. As such, we examine a number of emerging applications of this new class of metamaterials. Finally, we speculate on the potential impact of these materials, the new directions, and the challenges for the researchers.

Podsiadlo, P.; Krylova, G. V.; Demortiere, A.; Shevchenko, E. V. (Center for Nanoscale Materials)

2011-01-01

456

Proliferation rates of multiple endocrine neoplasia type 1 (MEN1)-associated tumors.  

PubMed

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid and adrenocortical tumors, and neuroendocrine tumors (NETs) of the pancreas and pituitary. The pancreatic NETs are predominantly gastrinomas and insulinomas, and the pituitary NETs are mostly prolactinomas and somatotrophinomas. We postulated that the different types of pancreatic and pituitary NETs may be partly due to differences in their proliferation rates, and we therefore assessed these in MEN1-associated tumors and gonadal tumors that developed in mice deleted for an Men1 allele (Men1(+/-)). To label proliferating cells in vivo, Men1(+/-) and wild-type (Men1(+/+)) mice were given 5-bromo-2-deoxyuridine (BrdU) in drinking water from 1-12 wk, and tissue sections were immunostained using anti-BrdU and hormone-specific antibodies. Proliferation in the tumors of Men1(+/-) mice was significantly (P < 0.001) increased when compared with the corresponding normal Men1(+/+) tissues. Pancreatic, pituitary and adrenocortical proliferation fitted first- and second-order regression lines in Men1(+/+) tissues and Men1(+/-) tumors, respectively, R(2) = 0.999. Apoptosis was similar in Men1(+/-) pancreatic, pituitary, and parathyroid tumors when compared with corresponding normal tissues, decreased in Men1(+/-) adrenocortical tumors, but increased in Men1(+/-) gonadal tumors. Mathematical modeling of NET growth rates (proliferation minus apoptosis rates) predicted that in Men1(+/-) mice, only pancreatic ?-cells, pituitary lactotrophs and somatotrophs could develop into tumors within a murine lifespan. Thus, our studies demonstrate that Men1(+/-) tumors have low proliferation rates (<2%), second-order kinetics, and the higher occurrence of insulinomas, prolactinomas, and somatotrophinomas in MEN1 is consistent with a mathematical model for NET proliferation. PMID:23024266

Walls, Gerard V; Reed, Anita A C; Jeyabalan, Jeshmi; Javid, Mahsa; Hill, Nathan R; Harding, Brian; Thakker, Rajesh V

2012-11-01

457

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

458

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

PubMed Central

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

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

2011-01-01

459

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

460

The Drosophila Wilms? Tumor 1-Associating Protein (WTAP) homolog is required for eye development.  

PubMed

Sine Oculis (So), the founding member of the SIX family of homeobox transcription factors, binds to sequence specific DNA elements and regulates transcription of downstream target genes. It does so, in part, through the formation of distinct biochemical complexes with Eyes Absent (Eya) and Groucho (Gro). While these complexes play significant roles during development, they do not account for all So-dependent activities in Drosophila. It is thought that additional So-containing complexes make important contributions as well. This contention is supported by the identification of nearly two-dozen additional proteins that complex with So. However, very little is known about the roles that these additional complexes play in development. In this report we have used yeast two-hybrid screens and co-immunoprecipitation assays from Kc167 cells to identify a biochemical complex consisting of So and Fl(2)d, the Drosophila homolog of human Wilms? Tumor 1-Associating Protein (WTAP). We show that Fl(2)d protein is distributed throughout the entire eye-antennal imaginal disc and that loss-of-function mutations lead to perturbations in retinal development. The eye defects are manifested behind the morphogenetic furrow and result in part from increased levels of the pan-neuronal RNA binding protein Embryonic Lethal Abnormal Vision (Elav) and the RUNX class transcription factor Lozenge (Lz). We also provide evidence that So and Fl(2)d interact genetically in the developing eye. Wilms? tumor-1 (WT1), a binding partner of WTAP, is required for normal eye formation in mammals and loss-of-function mutations are associated with some versions of retinoblastoma. In contrast, WTAP and its homologs have not been implicated in eye development. To our knowledge, the results presented in this report are the first description of a role for WTAP in the retina of any seeing animal. PMID:24690230

Anderson, Abigail M; Weasner, Brandon P; Weasner, Bonnie M; Kumar, Justin P

2014-06-15

461

The primary periodic paralyses: diagnosis, pathogenesis and treatment  

Microsoft Academic Search

Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often potassium (K)- sensitive, muscle membrane excitability leading to episodic flaccid paralysis. Hypokalaemic (HypoPP) and hyperkalaemic PP and Andersen-Tawil syndrome are genetically heterogeneous. Over the past decade muta- tions in genes encoding three ion channels,CACN1AS,SCN4AandKCNJ2, have been identified and account for at least 70% of the identified cases of

S. L. Venance; S. C. Cannon; D. Fialho; B. Fontaine; M. G. Hanna; L. J. Ptacek; M. Tristani-Firouzi

2005-01-01

462