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[Cryopyrin-associated periodic syndrome].  


The cryopyrin-associated periodic syndrome is a very rare disease. It is estimated that there are 1-2 cases out of 1 million inhabitants in the USA and 1/360,000 in France. However, many patients are diagnosed very late or not at all. Therefore the real prevalence is likely to be higher. CAPS encompasses the three entities familial cold autoinflammatory syndrome (FCAS), the Muckle-Wells syndrome and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome. They have in common a causative mutation in the NLRP3-gene. The altered gene product cryopyrin leads to activation of the inflammasome which in turn is responsible for excessive production of IL-1?. IL-1? causes the inflammatory manifestations in CAPS. These appear as systemic inflammation including fever, headache or fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal manifestations and CNS symptoms (NOMID/CINCA only). With the advent of the IL-1 inhibitors anakinra, rilonacept and canakinumab for the first time safe and effective therapeutic options are available for this devastating disease. To prevent severe and possible life-threatening disease sequelae, early and correct diagnosis and immediate initiation of therapy are mandatory. PMID:22527214

Kümmerle-Deschner, J B



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


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

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



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

PubMed Central

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

Dhimolea, Eugen



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


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

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



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


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

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



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

PubMed Central

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



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


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

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



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 NCT00465985



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 NCT00487708



Targeting interleukin-1? in CAPS (cryopyrin-associated periodic) syndromes: what did we learn?  


CAPS is the prototype of an IL-1? driven auto inflammatory disorder. Features of recurrent systemic inflammation compromises patient's quality of life, and may reduce life expectancy by inducing definite organ damage. Recent treatment targeting IL-1 have shown dramatic effect on patient's clinical symptoms and quality of life. Anakinra was first used successfully in treating small series of patients with all CAPS phenotypes. Two pivotal randomized placebo-controlled studies allowed licensing of rilonacept and canakinumab as orphan drugs for CAPS patients. The use of anti-IL-1 drugs in CAPS is still relatively new, and their effect on a long term is not well known. As we can suppress the clinical symptoms of patients with CAPS, important questions remain regarding the full effect of anti-IL-1 treatment on organ involvement and their potential ability to prevent them. As important variations of treatment doses and schedules appear in reaching effectiveness, pharmacologic studies are still warranted to determine a potential diffusion of anti-IL-1 drugs in the fluids and tissues. More studies evaluating the efficacy and safety of anti-IL-1 drugs given in patients before 2 years of age are warranted, since it is believed that the earliest treatment could avoid secondary CAPS complications to develop. PMID:22884551

Koné-Paut, Isabelle; Piram, Maryam



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


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



Association between celiac sprue and cryopyrin associated autoinflammatory disorders: a case report.  


Cryopyrin-associated diseases may be characterized by rashes, fever, and sensorineural deafness, while celiac disease may present with symptoms of malabsorption and fatigue. Arthritis is seen in both conditions. We report a young child with histologically diagnosed celiac disease and a cryopyrinopathy. PMID:17550587

Shaker, Marcus; Edwards, Susan; Chionuma, Henry; Shamansky, Eric; Hoffman, Hal M



[Autoinflammatory syndromes].  


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

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


Case of Bartter Syndrome Presenting With Hypokalemic Periodic Paralysis  

Microsoft Academic Search

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

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



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



Periodic Limb Movement Disorder and Restless Legs Syndrome  


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


Oral Manifestations of a Possible New Periodic Fever Syndrome  

Microsoft Academic Search

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

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


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


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


Oral manifestations of a possible new periodic fever syndrome.  


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

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


Restless legs syndrome and periodic leg movements of sleep.  


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

Rye, David B; Trotti, Lynn Marie



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

PubMed Central

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

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



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

Microsoft Academic Search

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

Emilia Sforza; Christophe Jouny; Vincent Ibanez



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


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

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



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


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



Monogenic IL-1 Mediated Autoinflammatory and Immunodeficiency Syndromes: Finding the Right Balance in Response to Danger Signals  

PubMed Central

INTRODUCTION Interleukin -1 was the first cytokine identified and is a powerful inducer of fever and inflammation. The biologically active receptor for IL-1, shares signaling pathways with some pathogen recognition receptors, the toll like receptors (TLRs) which early on suggested an important role in innate immune function. DISCUSSION The discovery that some intracellular “danger receptors”, the NOD like receptors (NLRs) can assemble to form multimolecular platforms, the inflammasomes, that not only sense intracellular danger but also activate IL-1?, has provided the molecular basis for the integration of IL-1 as an early response mediator in danger recognition. The critical role of balancing IL-1 production and signaling in human disease has recently been demonstrated in rare human monogenic diseases with mutations that affect the meticulous control of IL-1 production, release and signaling by leading to decreased or increased TLR/IL-1 signaling. In diseases of decreased TLR/IL-1 signaling (IRAK-4 and MyD88 deficiencies) patients are at risk for infections with gram positive organisms; and in diseases of increased signaling, patients develop systemic autoinflammatory diseases (Cryopyrin associated periodic syndromes (CAPS), and deficiency of the IL-1 receptor antagonist (DIRA)). CONCLUSION Monogenic defects in a number of rare diseases that affect the balance of TLR/IL-1 signaling have provided us with opportunities to study the systemic effects of IL-1 in human diseases. The molecular defects in CAPS and DIRA provided a therapeutic rationale for targeting IL-1 and the impressive clinical results from IL-1 blocking therapies have undoubtedly confirmed the pivotal role of IL-1 in human disease and spurred the exploration of modifying IL-1 signaling in a number of genetically complex common human diseases.

Henderson, Cailin; Goldbach-Mansky, Raphaela



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



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


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

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



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



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



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



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

Microsoft Academic Search

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

Maurice M. Ohayon; Thomas Roth



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

Microsoft Academic Search

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

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



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

Microsoft Academic Search

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

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


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

Microsoft Academic Search

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

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



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

Microsoft Academic Search

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

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



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


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



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

ERIC Educational Resources Information Center

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

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




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.



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


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

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



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



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


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

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



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


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

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



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


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

Lee, M C; Lee, S H



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

PubMed Central

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

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



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


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

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



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


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

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



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


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

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



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

Microsoft Academic Search

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

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



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


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

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



Cold-induced urticaria with a familial transmission: a case report and review of the literature  

PubMed Central

Introduction Cryopyrin-associated periodic syndrome is a rare genetic disorder causing cold-induced urticaria, severe arthralgias, and (potentially) renal failure and hearing loss. Therapies that effectively control the symptoms and prevent the complications of this debilitating disorder are now available, making recognition of this disease important. Case presentation A 60-year-old Caucasian woman presented with complaints of rash and joint pains to a general medicine clinic. Her history showed that her symptoms were linked to cold exposure, but the results of a cold stimulation time test were negative. Several generations of her family had similar symptoms. Conclusions This case highlights the importance of considering cryopyrin-associated periodic syndrome in the differential diagnosis of cold-induced urticaria. Several medications targeting interleukin-1-beta are available, providing significant relief from symptoms and improvement in quality of life in affected patients.



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



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

Microsoft Academic Search

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

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



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

Microsoft Academic Search

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

Dennis McGonagle; Sinisa Savic; Michael F. McDermott



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



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


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



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.



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



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


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

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



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

PubMed Central

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

Tavernarakis, Antonios



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


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

Microsoft Academic Search

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

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



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

PubMed Central

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

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



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


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

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



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



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


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

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



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



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

Microsoft Academic Search

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

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



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



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

PubMed Central

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

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



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


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

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



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

PubMed Central

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

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




PubMed Central

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

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



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


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

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



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

Microsoft Academic Search

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

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



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



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

Microsoft Academic Search

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

Undurti N. Das



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



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


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

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


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


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

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



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



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


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



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



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



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


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

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



Toxic Shock Syndrome  


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


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

PubMed Central

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

Azuara Trujillo, Hugo Alberto; Velez Martinez, Jose Ruben



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


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

Nadezhdina, M V



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


The Ts65Dn mouse is the most commonly used model of Down syndrome. This mouse shows many phenotypic characteristics present in people with Down syndrome, including behavioral and cognitive deficits. SGS-111 is a novel analogue of the nootropic piracetam, which prevents oxidative damage and apoptosis in both normal and Down syndrome human cortical neurons. In this work we tested the ability of chronic administration of SGS-111 to adult Ts65Dn mice to reverse the cognitive deficit found in these mice. Moreover, since oxidative stress has been reported as early as the fetal stage, SGS-111 was also administered to pregnant Ts65Dn females from the day of conception throughout the pregnancy and to Ts65Dn pups during their entire life (5 months), from birth to the end of the behavioral testing period. A characterization of the effects of SGS-111 treatment on Ts65Dn and control mice sensorimotor abilities, motor coordination, spontaneous activity, activity in the open field, exploration, anxiety and spatial and non-spatial short- and long-term learning and memory was performed. The behavioral characterization showed that chronic administration of the antioxidant SGS-111 reduced the hyperactivity shown by Ts65Dn mice in their home cage, in the open field and in the hole board test. SGS-111 administration during adulthood improved performance in the first session in the Morris water maze in control mice, and when administered during the pre- and post-natal periods, improved spatial learning in the control mice but not in Ts65Dn mice. Chronic SGS-111 administration failed to affect behavior and cognition in Ts65Dn mice. PMID:18178265

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



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


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

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



Neonatal Marfan Syndrome — A Case Report  

Microsoft Academic Search

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

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


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

PubMed Central

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

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



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

PubMed Central

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

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



Scheie syndrome  


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


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

Microsoft Academic Search

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

Noemí Rueda; Jesús Flórez; Carmen Martínez-Cué



Second-Impact Syndrome  

ERIC Educational Resources Information Center

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

Cobb, Sarah; Battin, Barbara



Premenstrual syndrome  

PubMed Central

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



Le syndrome des grosses mains  

Microsoft Academic Search

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

M. Arrault; F. Gaouar; S. Vignes



Period Cramps  


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


Periodic Pegboard  

NSDL National Science Digital Library

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

Johnsen, Jill



Guillain-Barre Syndrome  


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


Beckwith-Wiedemann syndrome  


... 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 ...


[Puffy hand syndrome].  


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

Arrault, M; Gaouar, F; Vignes, S



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.



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

PubMed Central

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

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



[Schnitzler's syndrome].  


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

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



Reye syndrome.  


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

De Vivo, D C



Periodic Polymers  

NASA Astrophysics Data System (ADS)

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

Thomas, Edwin



Sotos syndrome.  


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



Jacobsen syndrome  

PubMed Central

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

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



Craniofacial Syndrome Descriptions  


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


Pendred Syndrome  


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


Alagille syndrome  

Microsoft Academic Search

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

I D Krantz; D A Piccoli; N B Spinner



MR imaging of Joubert's syndrome  

Microsoft Academic Search

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

R. Nuri Sener



Coexistent Felty's syndrome and palindromic rheumatism  

Microsoft Academic Search

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

R E Alvillar; L OGrady; D Robbins



Goldenhar's syndrome.  


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

Feingold, M; Baum, J



The fresco of autoinflammatory diseases from the pediatric perspective.  


Autoinflammatory diseases are genetic or acquired clinical entities globally caused by the aberrant release of the proinflammatory cytokine interleukin-1 and mostly characterized by recurrent spontaneous inflammatory events which do not produce antigen-specific T cells or autoantibodies. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes, complement dysregulation syndromes and Behçet's disease. Most of these conditions interact with the inflammasomes, intracellular molecular complexes coordinating the phylogenetically ancient response of the innate immune system. The pathogenetic mechanisms of these diseases have shown the evidence of disrupted interleukin-1 signaling for most of them and allowed to locate interleukin-1 as an attractive therapeutic target. The whole fresco of autoinflammatory diseases in pediatrics will be discussed in this review with the aim of establishing both diagnostic clues and treatments for each condition. PMID:22024500

Rigante, Donato



Update: Toxic Shock Syndrome.  

ERIC Educational Resources Information Center

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

Price, James H.



Moebius Syndrome  


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


Hurler syndrome  


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


Duane's syndrome.  


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

Gutowski, N J



Rett Syndrome  


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


Marfan Syndrome  


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


Asherman syndrome  


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


Fanconi syndrome  


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


Turcot Syndrome  


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


Sotos Syndrome  


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


Angelman Syndrome  


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


Troyer Syndrome  


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


Piriformis Syndrome  


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


Cowden syndrome.  

PubMed Central

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

Hanssen, A M; Fryns, J P



Klinefelter Syndrome  


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


[Mannequin syndrome].  


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

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



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



Oculocerebrocutaneous Syndrome (Delleman Syndrome)  

Microsoft Academic Search

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

Ignacio Pascual-Castroviejo


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



Endogenous opioid abstinence syndrome.  


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

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


Neurobehavioral syndromes.  


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



Gorlin Syndrome  

PubMed Central

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

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



Gorlin syndrome.  


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

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



Aicardi syndrome.  


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

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



Fisher Syndrome  

Microsoft Academic Search

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

Masahiro Mori; Satoshi Kuwabara



Turner Syndrome  


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


So Many Periodic Tables!  

NSDL National Science Digital Library

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

Suggs, Mrs.



Familial Periodic Paralyses  


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


Congenital varicella syndrome.  


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

Sasidharan, C K; Anoop, P



[Cotard syndrome].  


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

Simovici, G; Bauer, A



Hepatorenal Syndrome  

Microsoft Academic Search

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

Mónica Guevara; Pere Ginès



Cockayne's syndrome  

Microsoft Academic Search

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

M. Lanning; S. Similä



Lemierre syndrome  

Microsoft Academic Search

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

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



Proteus Syndrome  

Microsoft Academic Search

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

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



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



Down syndrome and recent demographic trends in Manitoba  

Microsoft Academic Search

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

J A Evans; A G Hunter; J L Hamerton



Velocardiofacial syndrome.  

PubMed Central

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

Pike, A. C.; Super, M.



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.



Allgrove syndrome.  


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

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



Lemierre syndrome.  


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



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



Thyroid function in Down syndrome.  


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

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



Noonan syndrome  


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


Klinefelter syndrome  


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


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.



Caplan syndrome  


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


[Sandifer syndrome].  


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

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



Levator Syndrome  


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


Aicardi syndrome  


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


Asperger Syndrome  


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


Reye's Syndrome  


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


Rett Syndrome  


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


Serotonin Syndrome  


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


Sjogren's Syndrome  


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


Tourette Syndrome  


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


Bartter syndrome  


... 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 ...


Usher Syndrome  


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


Lemierre syndrome.  


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

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



Sheehan's Syndrome  


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


Gardner Syndrome  


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


Hyperventilation syndrome  

Microsoft Academic Search

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

Richard E. Brashear



Noonan syndrome.  


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

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



Lemierre's syndrome  

Microsoft Academic Search

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

J. Gong; J. Garcia



Coexistent Felty's syndrome and palindromic rheumatism.  


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

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



Cyclic Vomiting Syndrome Developed after Stroke  

PubMed Central

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

Shin, Jung In



[Sjogren's syndrome].  


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

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


Period meter for reactors  


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

Rusch, Gordon K. (Downers Grove, IL)



Central Cord Syndrome  


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


Central Pain Syndrome  


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


Hantavirus Pulmonary Syndrome  


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


Hyperimmunoglobulin E syndrome  


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


Sexuality and Down Syndrome  


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


Neurobiology of chronic fatigue syndrome  

Microsoft Academic Search

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

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



Trends in Fetal Alcohol Syndrome  

Microsoft Academic Search

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

Jodi D. Hoffman; Alan Shanske



Joubert syndrome: Report of a neonatal case  

PubMed Central

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

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



Pediatric Complex Regional Pain Syndrome  

Microsoft Academic Search

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

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


Pharmacological Adjuncts for the Treatment of Withdrawal Syndromes  

Microsoft Academic Search

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

Karen Lea Sees



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



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



[Marfan syndrome].  


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

Kaitila, Ilkka; Jokinen, Eero; Kokkonen, Jorma



Antiphospholipid syndrome.  


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

Asherson, R A; Cervera, R



Cardiorenal syndromes  

PubMed Central

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

McCullough, Peter A; Ahmad, Aftab



SAPHO syndrome.  


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

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



[Scientific periodicals: quality criteria].  


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

Ferreira, Maria Cecilia Gonzaga; Krzyzanowski, Rosaly Favero



Down's syndrome and early cataract  

PubMed Central

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

Haargaard, B; Fledelius, H C



The Periodic Table  

NSDL National Science Digital Library

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

Cutting, Mrs.



[Chromosome instability syndromes].  


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

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



Premenstrual syndrome.  


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

Gianetto-Berruti, A; Feyles, V



Lemierre's syndrome.  


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

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



SAPHO syndrome.  


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

Carneiro, Sueli; Sampaio-Barros, Percival D



Genetics Home Reference: Cohen syndrome  


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


Modeling the incubation period of inhalational anthrax.  


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

Wilkening, Dean A



PEC: Period Error Calculator  

NASA Astrophysics Data System (ADS)

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

Mighell, Kenneth J.



Retrospective Conversion of Periodicals  

Microsoft Academic Search

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

Rita Broadway; Jane Qualls



Prescribing patterns in premenstrual syndrome.  


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

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



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.



Dyke-davidoff-masson syndrome.  


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

Paudel, Kalyan; Venugopal, Anand


Aicardi syndrome  

Microsoft Academic Search

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

Jean Aicardi



HELLP Syndrome  


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


Fahr's Syndrome  


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


Scimitar syndrome.  


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

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



Gardner's syndrome  

Microsoft Academic Search

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

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



Hurler Syndrome  


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


Cockayne's syndrome  

Microsoft Academic Search

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

Ursula Rowlatt



Overtraining syndrome  

Microsoft Academic Search

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

R Budgett



Sensory syndromes.  


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

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



Rett Syndrome.  

ERIC Educational Resources Information Center

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

Culbert, Linda A.


[Caplan's syndrome].  


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

Benesová, E; Brhel, P



Lynch Syndrome  


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


Inflammasome mediated autoinflammatory disorders  

PubMed Central

The nucleotide-binding domain leucine-rich repeat containing (NLR) family of receptors are members of the innate immune system with a critical role in host defense. These molecules are key to driving inflammatory responses to abnormal cellular conditions. A number of the NLRs serve this role upon activation by forming a multi-protein complex called an inflammasome. The inflammasome drives the processing and release of cytokines such as the pro-inflammatory cytokines interleukin (IL)-1? and IL-18. The important function of NLR molecules in autoinflammatory disorders has recently been recognized in part through the identification of the role of IL-1? in pathogenesis of several autoinflammatory diseases. Cryopyrin-associated periodic syndromes (CAPS) were the first autoinflammatory disorders found to be directly mediated by dysfunctional inflammasome activation. This finding has subsequently led to studies in both murine models and humans that have revealed several other inflammatory conditions associated with activation of NLR containing inflammasomes. Understanding of the molecular pathophysiology of these autoinflammatory disorders has further guided the successful development of targeted therapy against IL-1. In this review, we will provide an overview of the inflammasomes and describe the important role they play in the development and manifestations of autoinflammatory diseases.

Wilson, Shruti P.; Cassel, Suzanne L.



Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies  

PubMed Central

The inflammasome is a cytoplasmic multiprotein complex that promotes proinflammatory cytokine maturation in response to host- and pathogen-derived signals. Missense mutations in cryopyrin (NLRP3) result in a hyperactive inflammasome that drives overproduction of the proinflammatory cytokines IL-1? and IL-18, leading to the cryopyrin-associated periodic syndromes (CAPS) disease spectrum. Mouse lines harboring CAPS-associated mutations in Nlrp3 have elevated levels of IL-1? and IL-18 and closely mimic human disease. To examine the role of inflammasome-driven IL-18 in murine CAPS, we bred Nlrp3 mutations onto an Il18r-null background. Deletion of Il18r resulted in partial phenotypic rescue that abolished skin and visceral disease in young mice and normalized serum cytokines to a greater extent than breeding to Il1r-null mice. Significant systemic inflammation developed in aging Nlrp3 mutant Il18r-null mice, indicating that IL-1 and IL-18 drive pathology at different stages of the disease process. Ongoing inflammation in double-cytokine knockout CAPS mice implicated a role for caspase-1–mediated pyroptosis and confirmed that CAPS is inflammasome dependent. Our results have important implications for patients with CAPS and residual disease, emphasizing the need to explore other NLRP3-mediated pathways and the potential for inflammasome-targeted therapy.

Brydges, Susannah D.; Broderick, Lori; McGeough, Matthew D.; Pena, Carla A.; Mueller, James L.; Hoffman, Hal M.



Bridging Clinical Outcomes of Canakinumab Treatment in Patients With Rheumatoid Arthritis With a Population Model of IL-1? Kinetics.  


Canakinumab, an anti-interleukin-1? (IL-1?) monoclonal antibody, is approved for cryopyrin-associated periodic syndromes and is under investigation for the management of other inflammatory disorders. In this study, population-based pharmacokinetic-pharmacodynamic models were developed to understand responses to canakinumab in patients with rheumatoid arthritis (RA). Total canakinumab and total IL-1? concentrations were obtained from four clinical trials (n = 472). In contrast to traditional models, free IL-1? concentrations were calculated and used to link canakinumab to changes in C-reactive protein (CRP) concentrations and American College of Rheumatology (ACR) scores of 20, 50, and 70% improvement. Temporal patterns of total canakinumab, total IL-1?, CRP, and ACR scores were all well described. Simulations confirmed that 150?mg every 4 weeks improved ACR scores in patients with RA, but no additional benefit was provided by higher doses or more frequent administration. Integrating predicted endogenous free ligand concentrations with biomarkers and clinical outcomes could be extended to new therapies of anti-inflammatory diseases.CPT: Pharmacometrics & Systems Pharmacology (2012) 1, e5; doi:10.1038/psp.2012.6; advance online publication 26 September 2012. PMID:23835885

Ait-Oudhia, S; Lowe, P J; Mager, D E



Critical Role for Mast Cells in Interleukin-1?-Driven Skin Inflammation Associated with an Activating Nlrp3 Mutation  

PubMed Central

SUMMARY Cryopyrin-associated periodic syndromes (CAPS) are caused by aberrant interleukin-1? (IL-1?) production induced by NLRP3 mutations in humans, but the mechanisms involved remain poorly understood. Using a mouse model, we show a role for the indigenous microbiota and mast cells (MCs) in disease associated with mutant Nlrp3. Unlike normal cells, MCs expressing mutant Nlrp3 produced IL-1? in response to lipopolysaccharide or tumor necrosis factor-? (TNF-?). In neonatal mice, the microbiota induced TNF-? and IL-1? and promoted skin disease. MC deficiency greatly reduced disease in Nlrp3 mutant mice and reconstitution of MC-deficient mice with mutant MCs restored skin disease which required expression of IL-1? in MCs. Surprisingly, neutralization of TNF-? abrogated IL-1? production and skin disease in neonatal Nlrp3 mutant mice, but not in affected adult mice. Thus, the microbiota and MCs initiate cellular events leading to dysregulated IL-1? production and skin inflammation in neonatal mice with the CAPS-associated Nlrp3 mutation.

Nakamura, Yuumi; Franchi, Luigi; Kambe, Naotomo; Meng, Guangxun; Strober, Warren; Nunez, Gabriel



Bridging Clinical Outcomes of Canakinumab Treatment in Patients With Rheumatoid Arthritis With a Population Model of IL-1? Kinetics  

PubMed Central

Canakinumab, an anti-interleukin-1? (IL-1?) monoclonal antibody, is approved for cryopyrin-associated periodic syndromes and is under investigation for the management of other inflammatory disorders. In this study, population-based pharmacokinetic–pharmacodynamic models were developed to understand responses to canakinumab in patients with rheumatoid arthritis (RA). Total canakinumab and total IL-1? concentrations were obtained from four clinical trials (n = 472). In contrast to traditional models, free IL-1? concentrations were calculated and used to link canakinumab to changes in C-reactive protein (CRP) concentrations and American College of Rheumatology (ACR) scores of 20, 50, and 70% improvement. Temporal patterns of total canakinumab, total IL-1?, CRP, and ACR scores were all well described. Simulations confirmed that 150?mg every 4 weeks improved ACR scores in patients with RA, but no additional benefit was provided by higher doses or more frequent administration. Integrating predicted endogenous free ligand concentrations with biomarkers and clinical outcomes could be extended to new therapies of anti-inflammatory diseases.

Ait-Oudhia, S; Lowe, P J; Mager, D E



Targeting inflammasomes in rheumatic diseases.  


Inflammasomes are key inducers of inflammation in response to exogenous and endogenous stimuli, because they regulate the processing and secretion of the proinflammatory cytokines IL-1? and IL-18. Thus, inflammasomes have a crucial role in host defence against infection, but they can also be involved in inflammatory diseases. Indeed, the NLRP3 (NOD-, LRR- and pyrin domain-containing 3) inflammasome has been shown to play a part in several inflammatory rheumatic disorders, although the mechanisms involved are better elucidated in some of these diseases than in others. In particular, the pathogenesis of cryopyrin-associated periodic syndromes and microcrystal-induced arthritides is thought to be dependent on activation of the NLRP3 inflammasome, and IL-1 inhibition has shown efficacy as a therapeutic strategy in both groups of conditions. In this Review, we describe the current understanding of the mechanisms that trigger the inflammasome, and consider the relevance of the inflammasome to a variety of rheumatic diseases. In addition, we discuss the current therapies targeting this molecular complex, as well as future therapeutic prospects. PMID:23670136

So, Alexander; Ives, Annette; Joosten, Leo A B; Busso, Nathalie



Refeeding syndrome – awareness, prevention and management  

Microsoft Academic Search

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

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



Periodicities in Jupiter's magnetotail  

NASA Astrophysics Data System (ADS)

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

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



Calculation of periodic trajectories  

SciTech Connect

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

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



Periodically poled silicon  

NASA Astrophysics Data System (ADS)

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

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



The Source for Syndromes.  

ERIC Educational Resources Information Center

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

Richard, Gail J.; Hoge, Debra Reichert


Lorenz Attractor Periodic Orbits  

NSDL National Science Digital Library

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

Christian, Wolfgang



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.


Periodized Daubechies wavelets.  

National Technical Information Service (NTIS)

The properties of periodized Daubechies wavelets on (0,1) are detailed and counterparts which form a basis for L(sup 2)(R). Numerical examples illustrate the analytical estimates for convergence and demonstrated by comparison with Fourier spectral methods...

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



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


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

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



A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome  

PubMed Central

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

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



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



A New Periodicity Lemma  

Microsoft Academic Search

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

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



Imaging of periodic dielectrics  

Microsoft Academic Search

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

Armin Lechleiter



[Cardiorenal syndrome].  


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

Alscher, M D; Sechtem, U



[Overlapping syndrome].  


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

Tanimoto, K



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.



Metabolic Syndrome  

Microsoft Academic Search

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

Gerald M. Reaven


Myelodysplastic syndromes  

Microsoft Academic Search

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

Kenneth B. Miller



[Gardner syndrome].  


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

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


[Eagle's Syndrome].  


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

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes


Lemierre syndrome.  


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

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



Lemierre Syndrome  

PubMed Central

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

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



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


Child Syndrome  

Microsoft Academic Search

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

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


Heterotaxy Syndrome  

PubMed Central

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



[Crush syndrome].  


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

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



Crouzonodermoskeletal syndrome.  


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

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



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



Radiation-induced moyamoya syndrome  

SciTech Connect

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

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



Bisalbuminemia during remission of nephrotic syndrome.  


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

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



Somatic hypotheses of war syndromes.  


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

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



ADHD and genetic syndromes  

Microsoft Academic Search

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

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



Down syndrome and ionizing radiation.  


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

Verger, P



Superior vena cava syndrome: A medical emergency?  

PubMed Central

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

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



Period and Styles  

NSDL National Science Digital Library

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


ACS Periodic Table  

NSDL National Science Digital Library

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


Periodic Table Live!  

NSDL National Science Digital Library

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


Perspectives on craniofacial syndromes.  


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

Cohen, M M; Kreiborg, S



Cyclic Bicytopenia in a Patient with Shapiro Syndrome  

PubMed Central

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

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




Microsoft Academic Search

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

Barbara A. Rice



Indexing of Feminist Periodicals  

Microsoft Academic Search

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

Mary Alice Sanguinetti



Scheduling: Seven Period Day  

ERIC Educational Resources Information Center

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

Williamson, Ronald



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.


Adaptive periodic IIR filters  

Microsoft Academic Search

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

J. W. Whikehart; S. Dasgupta



Liver abnormalities in Turner syndrome  

Microsoft Academic Search

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

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



[Piriformis syndrome].  


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



Serotonin syndrome.  


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

Prator, Bettina C



[Hypereosinophilic syndrome].  


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

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



Mazabraud syndrome  

PubMed Central

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

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



Behçet's syndrome.  


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

Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan



[Alagille syndrome].  


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

Ciocca, Mirta; Alvarez, Fernando



NSDL National Science Digital Library

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


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



Cells anticipate periodic events  

NASA Astrophysics Data System (ADS)

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

Nakagaki, Toshiyuki



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.



Periodicals Records Conversion  

Microsoft Academic Search

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

Susan L. Tsui



Hunting for Periodical Cicadas  

NSDL National Science Digital Library

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

Gyllenhaal, Eric Davis, 1950-



Periodic Table review  

NSDL National Science Digital Library

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

Huntress, Ms.



Myelodysplastic syndromes.  


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

Orazi, Attilio; Czader, Magdalena B



[Hyponatremic syndrome].  


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

Urso, C; Caimi, G



Reed's Syndrome  

PubMed Central

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

Solomon, Shayna; Mercer, Stephen E.



Sheehan's syndrome.  


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

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



Premenstrual syndrome.  


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

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



Cushing's Syndrome  


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


Epidemiology of Turner syndrome  

Microsoft Academic Search

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

Claus Højbjerg Gravholt; Kirstine Stochholm



Restless Legs Syndrome  


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 ...


Stiff-Person Syndrome  


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


Cytochrome P-450 expression in sudden infant death syndrome  

Microsoft Academic Search

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

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



Persistent genital arousal in women – a new syndrome entity  

Microsoft Academic Search

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

David Goldmeier; Sandra R Leiblum



Neurocognitive recovery in SMART syndrome: A case report  

Microsoft Academic Search

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

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



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

ERIC Educational Resources Information Center

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

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



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

Microsoft Academic Search

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

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



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


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

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



Burning mouth syndrome  

PubMed Central

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



Burning mouth syndrome  

PubMed Central

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



[Nakajo-Nishimura syndrome].  


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

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



Reactive arthritis (Reiter's syndrome).  


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

Barth, W F; Segal, K



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.



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


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

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



Visual Elements Periodic Table  

NSDL National Science Digital Library

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



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.



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



Child neurology: Zellweger syndrome.  


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

Lee, Paul R; Raymond, Gerald V



Latent Periodicity of Protein Sequences  

Microsoft Academic Search

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

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



Bouveret syndrome.  


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

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



Nodding syndrome.  


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

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



Lowe syndrome  

PubMed Central

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

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



Binder's syndrome  

PubMed Central

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

Jain, Upendra; Thakur, Gagan; Kallury, Amitabh



[Behçet's syndrome].  


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



Noonan syndrome  

PubMed Central

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

van der Burgt, Ineke



75 FR 1301 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

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



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



Supernumerary teeth in non-syndromic patients  

PubMed Central

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

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



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

PubMed Central

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



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

Microsoft Academic Search

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

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



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


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

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



Gorlin-goltz syndrome.  


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

Pandeshwar, Padma; Jayanthi, K; Mahesh, D



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.



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



Kleine-Levin syndrome: current status.  


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

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



Periodically oscillating plasma sphere  

SciTech Connect

The periodically oscillating plasma sphere, or POPS, is a novel fusion concept first proposed by D. C. Barnes and R. A. Nebel [Fusion Technol. 38, 28 (1998)]. POPS utilizes the self-similar collapse of an oscillating ion cloud in a spherical harmonic oscillator potential well formed by electron injection. Once the ions have been phase-locked, their coherent motion simultaneously produces very high densities and temperatures during the collapse phase of the oscillation. A requirement for POPS is that the electron injection produces a stable harmonic oscillator potential. This has been demonstrated in a gridded inertial electrostatic confinement device and verified by particle simulation. Also, the POPS oscillation has been confirmed experimentally through observation that the ions in the potential well exhibit resonance behavior when driven at the POPS frequency. Excellent agreement between the observed POPS frequencies and the theoretical predictions has been observed for a wide range of potential well depths and three different ion species. Practical applications of POPS require large plasma compressions. These large compressions have been observed in particle simulations, although space charge neutralization remains a major issue.

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



Latent Periodicities in Genome Sequences  

Microsoft Academic Search

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

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



Voronoi Diagrams on Periodic Graphs  

Microsoft Academic Search

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

Norie Fu; Hiroshi Imai; Sonoko Moriyama



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

ERIC Educational Resources Information Center

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

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



Schimmelpenning syndrome.  


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

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



Asherman's syndrome.  


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

March, Charles M



Epidermal nevus syndromes.  


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

Happle, R



Radio rotation period of jupiter.  


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

Gulkis, S; Carr, T D



Erythrocyte disorders in the perinatal period.  


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

Steiner, Laurie A; Gallagher, Patrick G



Ellis-van Creveld syndrome.  


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

Baujat, Geneviève; Le Merrer, Martine



Ellis-Van Creveld syndrome  

PubMed Central

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

Baujat, Genevieve; Le Merrer, Martine



Fragile X Syndrome.  

ERIC Educational Resources Information Center

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

de la Cruz, Felix F.



Yellow nail syndrome (image)  


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 ...


Post-Polio Syndrome  


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



PubMed Central

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

Calva, Daniel; Howe, James R.



Solitary Rectal Ulcer Syndrome  


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


Marfan syndrome (image)  


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


Hantavirus Pulmonary Syndrome  


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


Fetal Alcohol Syndrome  


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


ADHD & Down Syndrome  


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


Ectopic Cushing syndrome  


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


Toxic Shock Syndrome  


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


Munchausen syndrome by proxy  


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


Riley-Day syndrome  


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


Obesity Hypoventilation Syndrome  


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


Fragile X syndrome  


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


Monozygotic twins concordant for Kleine-Levin syndrome  

PubMed Central

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



The Nonthyroidal Illness Syndrome  

Microsoft Academic Search

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

Suzanne Myers Adler; Leonard Wartofsky



Management of Brown syndrome.  


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

Lee, John


Small Bowel Polyposis Syndromes  

Microsoft Academic Search

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

Nadir Arber; Menachem Moshkowitz


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

Microsoft Academic Search

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

L Leissner; M Sandelin



Period Evolution in Mira Variables  

NASA Astrophysics Data System (ADS)

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

Zijlstra, Albert A.; Bedding, Timothy R.


Periodic leg movements and sleep-disordered breathing in children  

Microsoft Academic Search

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

Sabine Scholle; Hans-Christoph Scholle; Gerhard Zwacka



Morbidity in Turner Syndrome  

Microsoft Academic Search

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

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



Restless Legs Syndrome  


... 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 ...


Triple A syndrome.  


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

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


Childhood Nephrotic Syndrome  


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


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



[Wolf-Hirschhorn syndrome].  


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

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


First bite syndrome.  


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



Familial Crouzon syndrome  

PubMed Central

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

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



Fast Periodic Interpolation Method for Periodic Unit Cell Problems  

Microsoft Academic Search

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

Shaojing Li; Derek A. Van Orden; Vitaliy Lomakin



Positive Periodic Solutions for Nonlinear Difference Equations with Periodic Coefficients  

Microsoft Academic Search

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

F. Merdivenci Atici; G. Sh. Guseinov



Do you know this syndrome?*  

PubMed Central

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

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



ChemTeacher: Periodic Trends  

NSDL National Science Digital Library

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



Period evolution in Mira variables  

NASA Astrophysics Data System (ADS)

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

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



Behcet's Syndrome.  


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

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



Schmidt's syndrome - Case report  

PubMed Central

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

Gupta, Amit Narayan; Nagri, Shivashankara Kaniyoor



Fat embolism syndrome  

PubMed Central

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

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



The lax eyelid syndrome.  

PubMed Central

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

van den Bosch, W A; Lemij, H G



Fat embolism syndrome.  


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

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



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



Periodicity and the Golden Ratio  

Microsoft Academic Search

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

Filippo Mignosi; Antonio Restivo; Sergio Salemi



76 FR 297 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

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



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

ERIC Educational Resources Information Center

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

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



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

Microsoft Academic Search

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

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



SUNCT syndrome. A clinical review.  


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

Pareja, J A; Sjaastad, O



Pharmacological Treatment for Hepatopulmonary Syndrome  

PubMed Central

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

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



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

Microsoft Academic Search

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

Gwendolyn Boehm; Thomas C. Wetter; Claudia Trenkwalder



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


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

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



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

PubMed Central

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

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



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

Microsoft Academic Search

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

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



Capgras' syndrome with organic disorders  

Microsoft Academic Search

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

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



Magnetospheric Periodicities at Saturn Equinox  

NASA Astrophysics Data System (ADS)

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

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



Syndrome Dadaptation a Lespace (Space Adaptation Syndrome).  

National Technical Information Service (NTIS)

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

V. Didier



Syndrome Z - The New Metabolic Syndrome  

Microsoft Academic Search

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

Ravindran C; Arun P; Hari Lakshmanan P


Clinical predictors of lacunar syndrome not due to lacunar infarction  

PubMed Central

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



Serotonin syndrome in a postoperative patient.  


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

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



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



[False victimization syndrome].  


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

Resch, Mária; Bella, Tamás



Restless legs syndrome.  


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

Ekbom, Karl; Ulfberg, J



Planetary period oscillations at Saturn  

NASA Astrophysics Data System (ADS)

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

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




Microsoft Academic Search

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

S. Balaji; S. Lakshminarayanan



Period-Amplitude and Amplitude-Period Relationships.  

National Technical Information Service (NTIS)

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

D. H. Hathaway R. M. Wilson



Periodic and Quasi-Periodic Structures for Antenna Applications  

Microsoft Academic Search

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

Dietmar Pilz; Wolfgang Menzel



The periodic balanced sorting network  

Microsoft Academic Search

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

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



Period Versus Cohort Life Expectancy  

Microsoft Academic Search

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

Michel Guillot


A case of diabetes mellitus associated with Rett syndrome.  


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

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



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


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

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



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

Microsoft Academic Search

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

Nicolay Chertkoff Walz; Betsey A. Benson



Brown-Vialetto-Van Laere syndrome  

PubMed Central

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

Sathasivam, Sivakumar



Periodic Table of the Elements  

NSDL National Science Digital Library

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

Foundation, Wgbh E.



SAPHO syndrome associated spondylitis  

PubMed Central

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

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



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.



Melkersson-rosenthal syndrome  

Microsoft Academic Search

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

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



Styloid-stylohyoid syndrome  

PubMed Central

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

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



[Chilaidity syndrome. Case report].  


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

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


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



Economy class syndrome.  


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

Sahiar, F; Mohler, S R



Lamotrigine induced DRESS syndrome.  


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

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


Constriction band syndrome.  


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

Kawamura, Kenji; Chung, Kevin C



The ectopic ACTH syndrome  

Microsoft Academic Search

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

Krystallenia I. Alexandraki; Ashley B. Grossman



Genetics Home Reference: Brugada syndrome  


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


Inherited Bone Marrow Failure Syndromes  


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


Genetics Home Reference: Pfeiffer syndrome  


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


Klippel-Trenaunay Syndrome (KTS)  


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


Drug Withdrawal Syndromes  

PubMed Central

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

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



Gastrointestinal polyposis syndromes.  


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

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



Wernicke-Korsakoff syndrome  


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


Laugier-Hunziker syndrome  

PubMed Central

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

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



An uncommon phenotypical variant in the Shereshevsky-Turner syndrome  

Microsoft Academic Search

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

I. G. Dzenis; N. N. Antipina



Schwartz-Jampel syndrome: three pediatric case reports.  


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

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



Genetics Home Reference: Townes-Brocks Syndrome  


... 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 ...


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



The rotation period of Uranus  

Microsoft Academic Search

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

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



The discrete periodic Radon transform  

Microsoft Academic Search

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

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



75 FR 7426 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

...RM2010-8; Order No. 406] Periodic Reporting AGENCY: Postal Regulatory...SUPPLEMENTARY INFORMATION: Table of Contents I. Background...methods approved for use in periodic reporting.\\1\\ The Postal...distribution key in Cost Segment 14. Table 1 of the supporting...



76 FR 80312 - Periodic Reporting  

Federal Register 2010, 2011, 2012, 2013

...Business Reply Mail cost model in periodic reporting of service performance...methods approved for use in periodic reporting.\\1\\ On December...The Postal Service provides a table showing the current disaggregated...Postal Service also provides a table showing the change in...



Return Period of Soil Liquefaction  

Microsoft Academic Search

The paper describes a performance-based approach to the evaluation of liquefaction potential, and shows how it can be used to account for the entire range of potential ground shaking. The result is a direct estimate of the return period of liquefaction, rather than a factor of safety or probability of liquefaction conditional upon ground shaking with some specified return period.

Steven L. Kramer; Roy T. Mayfield



Heart period variability in sleep  

Microsoft Academic Search

Analysis of heart period variability is a dynamic noninvasive technique to quantify the autonomic control over the heart period. We recorded electroencephalographic, electro-oculographic, electromyographic and electrocardiographic data from 10 normal subjects during sleep using an ambulatory polysomnographic monitor. R-R intervals were determined for 10 min segments of electrocardiographic data from wakefulness, stage 2 sleep, slow wave sleep and REM sleep.

B. V. Vaughn; S. R. Quint; J. A. Messenheimer; K. R. Robertson



Periodicities in gamma ray bursts  

SciTech Connect

Gamma ray burst models based on magnetic neutron stars face a problem of account for the scarcity of observed periods. Both this scarcity and the typical period found when any is detected are explained if the neutron stars are accreting in binary systems

Wood, K.S.



Periodic paralysis with cardiac arrhythmia  

Microsoft Academic Search

In 1963, Klein et al. first described two girls with normokalemic periodic paralysis and cardiac arrhythmia. We have observed a 15-year-old girl with cardiac arrhythmia and normokalemia but with some features of hyperkalemic, periodic paralysis. The patient showed a waddling gait and Gower's sign. She had atrophy of the proximal muscles and deep tendon reflexes were reduced. Her ECG showed

T. Yoshimura; M. Kaneuji; T. Okuno; M. Yoshioka; T. Ueda; H. Mikawa; T. Kowata; T. Kamiya



The Eleven-Period Day.  

ERIC Educational Resources Information Center

|Describes how an eleven-period day would work in high schools. Discusses the benefits of having an eleven-period day, such as helping with overcrowding and allowing students flexibility. Addresses where music class would fit into this schedule and includes a list of resources on scheduling. (CMK)|

Fallis, Todd



Analysis of the Korean Emergency Department Syndromic Surveillance System: Mass Type Acute Diarrheal Syndrome  

PubMed Central

Objectives This study was designed to compare the data from the emergency department syndromic surveillance system of Korea in detection and reporting of acute diarrheal syndrome (mass type) with the data from the Korea Food and Drug Administration. And to offer fundamental materials for making improvements in current surveillance system was our purpose. Methods A study was conducted by reviewing the number of cases reported as acute diarrheal syndrome (mass type) from the Korean Center for Disease Control and Prevention between June, 2002 and July, 2008. And the data were compared with the number of mass food poisoning cases during the same period, reported from the Korea Food and Drug Administration. The difference between two groups was measured and their transitions were compared. Results The emergency department syndromic surveillance system's reports of the numbers of acute diarrheal syndrome (mass type) cases were different from the transition of mass food poisonings, reported by the Korea Food and Drug Administration. Their reports were not accurate and they could not follow the trends of increase in mass food poisonings since 2002. Conclusions Current problems in the emergency department syndromic surveillance system in Korea are mostly related to inaccuracies of daily data reporting system. Manual data input by the reporters could play a big role in such inaccuracies. There need to be improvements in the ways of reporting data, such as automated information transport system linking electronic medical record.

Ahn, Shin; Kim, Won; Lim, Kyung Soo



[Reversible cerebral vasoconstriction syndrome].  


Reversible cerebral vasoconstriction syndrome (RCVS) is more frequent than previously thought and is probably underdiagnosed. The mean age of onset is 42 years, and it affects slightly more women than men. RCVS is attributed to a transient, reversible dysregulation of cerebral vascular tone, which leads to multifocal arterial constriction and dilation. More than half the cases (60%) are secondary to exposure to vasoactive substances (e.g., cannabis, antidepressants, and nasal decongestants) or occur in the postpartum period. RCVS has a characteristic clinical and radiological course, developing in a single phase after a sudden onset, and there is generally no new event after 1 month. The main pattern of presentation begins with recurrent thunderclap headaches, often triggered by sexual activity or various Valsalva's maneuvers, over a period of 1 to 3 weeks. Seizures and focal neurological deficits are less frequent and generally start after the headaches. Cortical subarachnoid hemorrhage (22%), intracerebral hemorrhage (6%), seizures (3%), and reversible posterior leukoencephalopathy (9%) are early complications, occurring mainly within the first week. Ischemic events, including TIAs (16%) and cerebral infarction (4%), occur significantly later than hemorrhagic strokes, mainly during the second week. Diagnosis requires the demonstration of the characteristic "string and beads" on cerebral angiography and can be difficult, for 21% of patients have a normal initial magnetic resonance angiography (MRA) and 9% both a normal MRA and a normal transcranial Doppler. In these cases, the initial investigations must be repeated after a few days. The final diagnosis is made when a follow-up MRA shows resolution or at least marked improvement of the arterial abnormalities within 12 weeks. RCVS is sometimes associated with other large artery lesions of the head and neck, including dissections and unruptured aneurysms, especially during the postpartum period. Nimodipine is the treatment most often recommended. In our experience, it is not especially effective in severe RCVS. Relapses are possible but rare and have not yet been reported in prospective series. Although the exact pathophysiology remains speculative, strong recommendations against vasoactive substances appear prudent. PMID:19945250

Ducros, Anne



Rationalization of Comet Halley's periods  

SciTech Connect

The sense of long axis orientation of Comet Halley during the Vega 1 encounter must be reversed from that deduced by Sagdeev et al. (1986) in order to harmonize the comet nucleus' Vega/Giotto-observed orientations with periodicities extracted from time-series brightness data. It is also demonstrated that Vega/Giotto observations can be satisfied by either a 2.2- or 3.7-day long-axis free precession period. A novel Fourier algorithm is used to reanalyze five independent data sets; strong evidence is adduced for periods harmonically related to a 7.4-day period. The preferred candidate models for Halley's nuclear rotation are characterized by a long-axis precession period of 3.7 days. 79 refs.

Belton, M.J.S. (National Optical Astronomy Observatories, Tucson, AZ (USA))



Axillary Web Syndrome after Sentinel Node Biopsy  

PubMed Central

Summary Background Axillary web syndrome (AWS) is a self-limiting cause of morbidity in the early postoperative period after axillary surgery, but it is encountered also after sentinel lymph node biopsy. The syndrome is characterized by cords of subcutaneous tissue extending from the axilla into the medial arm. Case Report Here, we report a patient presenting with AWS several weeks after sentinel lymph node biopsy. Conclusion AWS has been reported to be resolved spontaneously in all patients 8–16 weeks after axillary surgery, and shoulder movements improve in this period. There is no definitive treatment modality for AWS. Patients should be reassured and informed that this condition will improve even without treatment.

Aydogan, Fatih; Belli, Ahmet Korkut; Baghaki, Semih; Karabulut, Kagan; Tahan, Gulgun; Uras, Cihan



Functions of tropomyosin's periodic repeats.  


Tropomyosin binds along actin filaments and regulates actin-myosin interaction in muscle and nonmuscle cells. Seven periodic amino acid repeats are proposed to correspond to actin binding sites, and the middle periods are important for cooperative activation of actin by myosin. The functional contributions of individual periods were studied in mutants in which periods 2-6 were individually deleted from rat striated muscle alphaalpha-tropomyosin or replaced with a leucine zipper sequence. Unacetylated recombinant tropomyosins were assayed for actin binding, regulation of the actomyosin ATPase with troponin, cooperative myosin S1-induced binding to actin, and thermal stability. Tropomyosin function is relatively insensitive to deletion of period 2, but loss increases as the deletion is shifted toward the C-terminus. Retention of function upon deletion of the periodic repeats is in the order of 2 > 3 approximately 4 approximately 6 > 5. Internal periods are important for specific functions and are not quasiequivalent. Deletion of period 5 (residues 166-207), and especially deletion or replacement of residues 166-188, a constitutively expressed region encoded by exon 5, had severe consequences on actin affinity and cooperative myosin S1-induced binding to actin. Period 6, residues 208-242, part of the troponin binding site, is required for full inhibition of the actomyosin ATPase in the absence of calcium. The effect of the deletion can depend on its context, suggesting that sequence alone is not the only factor important for function. We propose that the local structure and stability, and consequent flexibility, of the coiled coil are major determinants of actin affinity. PMID:12475253

Hitchcock-DeGregori, Sarah E; Song, Yuhua; Greenfield, Norma J



Peppermint oil in irritable bowel syndrome  

Microsoft Academic Search

In a literature search 16 clinical trials investigating 180–200mg enteric-coated peppermint oil (PO) in irritable bowel syndrome (IBS) or recurrent abdominal pain in children (1 study) with 651 patients enrolled were identified. Nine out of 16 studies were randomized double blind cross over trials with (n=5) or without (n=4) run in and\\/or wash out periods, five had a randomized double

H.-G. Grigoleit; P. Grigoleit



Post weaning respiratory syndrome in the pig  

Microsoft Academic Search

UP until 1991, the British pig herd had enjoyed a period of health that was not complicated by major persistent viral involvement. In May 1991, porcine reproductive and respiratory syndrome (blue-eared pig disease) appeared in this country, followed at the end of 1991 by the emergence of a swine influenza virus strain that was a variant of the H1N1 swine

Mark White



Intravenous methylprednisolone in idiopathic childhood nephrotic syndrome  

Microsoft Academic Search

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

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



The incidence of Down's syndrome in Nigeria  

Microsoft Academic Search

Studies of Down's syndrome covering a period of 9 years revealed an incidence of 1 in 865 livebirths in a Nigerian hospital. Cytogenetic analysis in 386 patients showed 369 (95.5%) cases to be the result of regular trisomy 21, and translocation trisomy 21 was found in nine (2.5%) patients. Six (1.5%) patients were mosaics and the remaining two (0.5%) cases

A A Adeyokunnu



Periodic Table of the Elements  

NSDL National Science Digital Library

An interactive version of the Periodic Table of the Elements. Each element is linked to a wealth of information concerning basic chemical properties, as well as short descriptions of its history, sources, compounds, uses, and isotopes. The table can be downloaded in PDF format. Other pages explain the purpose and use of the Periodic Table, and how new elements are named. A version of Mendeleev's original Periodic Table is displayed, and a description of Chemistry is given in a "nutshell". Links to the Department of Energy and Los Alamos National Laboratory are also provided.

Husted, Robert


Cri du Chat syndrome  

Microsoft Academic Search

Cri du Chat syndrome is a rare genetic condition affecting the short arm of chromosome 5. A range of clinical features, including the characteristic “cat-like” cry and developmental delay, is recognized in children with the syndrome. A higher incidence of certain paediatric orthopaedic conditions such as scoliosis, developmental dysplasia of the hip and pes planus and varus has also been

Lyndsay Cuming; Donna Diamond; Rouin Amirfeyz; Martin Gargan



The Couvade Syndrome  

PubMed Central

The Couvade syndrome describes the various physical symptoms found in expectant fathers. In this descriptive study, we have attempted to determine the extent to which this syndrome occurs among expectant fathers in Quebec, identify certain risk factors, and observe the repercussions of pregnancy on the social and family behaviour of the expectant father, as well as on the use of health care services.

Laplante, Patrice



Superior vena cava syndrome.  


Superior vena cava syndrome is a common complication of malignancy. The epidemiology, presentation, and diagnostic evaluation of patients presenting with the syndrome are reviewed. Management options including chemotherapy and radiation therapy and the role of endovascular stents are discussed along with the evidence for each of the therapeutic options. PMID:20488350

Wan, Jonathan F; Bezjak, Andrea



Myelopathy in Marfan's syndrome  

PubMed Central

A patient with Marfan's syndrome and a myelopathy is reported, and the association of multiple spinal arachnoid cysts noted. It is proposed that the basic connective tissue defect in Marfan's syndrome may predispose to the formation of arachnoid diverticuli and that in this case spinal cord damage was the sequel. Images

Newman, P. K.; Tilley, P. J. B.



Depersonalization syndrome: An overview  

Microsoft Academic Search

Depersonalization syndrome is an intriguing condition which entails the inclusion of both philosophical and psychiatric considerations. The author presents a clinical review of the syndrome with the inclusion of four essential components classically included in the literature. These components include a possible preformed response of the brain, an obsessional quality, a depressive element and a tendency towards a peculiar perseveration.

Evan M. Torch



Obstetric antiphospholipid syndrome  

Microsoft Academic Search

Antiphospholipid syndrome (APS) in pregnancy has a serious impact on maternal and fetal morbidity. It causes recurrent pregnancy miscarriage and it is associated with other adverse obstetric findings like preterm delivery, intrauterine growth restriction, preeclampsia, HELLP syndrome and others. The 2006 revised criteria, which is still valid, is used for APS classification. Epidemiology of obstetric APS varies from one population

Claudio Galarza-Maldonado; Maria R. Kourilovitch; Oscar M. Pérez-Fernández; Mariana Gaybor; Christian Cordero; Sonia Cabrera; Nikolai F. Soroka


MRI of polysplenia syndrome.  


The polysplenia syndrome is the association of multiple spleens, situs inversus, congenital heart disease, and azygous continuation of the inferior vena cava. Magnetic resonance (MR) is a noninvasive imaging modality which can easily confirm the multiplicity of spleens, situs inversus, and identify complex congenital cardiovascular malformations. The anomalies of the polysplenia syndrome as imaged by MR are presented. PMID:2630850

Jelinek, J S; Stuart, P L; Done, S L; Ghaed, N; Rudd, S A


Stiff Person Syndrome  

Microsoft Academic Search

Stiff person syndrome (SPS), stiff limb syndrome, jerking SPS and progressive encephalomyelitis with rigidity and myoclonus (PERM) are a family of rare, insidiously progressive diseases of the central nervous system. They all share the core clinical features of appendicular and axial rigidity caused by continuous involuntary motor unit activity, and superimposed stimulus-sensitive spasms. There is good evidence for a primary

Martin E. Duddy; Mark R. Baker



Neuropathology of Joubert Syndrome  

Microsoft Academic Search

Very little documentation of the neuropathologic changes in Joubert syndrome exists. This paper presents a detailed postmortem neuropathologic study of a clinically and radiographically well-documented case of Joubert syndrome. In addition to aplasia of the cerebellar vermis and fragmentation of the dentate nuclei, there was marked dysplasia of structures at the pontomesencephalic junction and caudal medulla. There was abnormal decussation

Anthony T. Yachnis; Lucy B. Rorke



Redefining syndromic surveillance.  


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

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



Arthropathy in Dressler's syndrome.  

PubMed Central

Three patients developed a polyarthritis in association with Dressler's (post-myocardial infarction) syndrome. Joint involvement was more pronounced in the upper limbs and persisted many months after other features of Dressler's syndrome had settled. In 2 cases the findings in the joints were slight and might have been overlooked but for the persistently raised ESR. There was a prompt symptomatic response to prednisone.

Davidson, C.



Renal coloboma syndrome  

Microsoft Academic Search

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may include

Lisa A Schimmenti



Equine Metabolic Syndrome  

Microsoft Academic Search

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

Nicholas Frank



Epidemiology of Down Syndrome  

ERIC Educational Resources Information Center

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

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



Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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

Wachtel, Tom J.; Pueschel, Siegfried M.



The congenital varicella syndrome  

Microsoft Academic Search

Two children, aged 18 months and 3 years, with the congenital varicella syndrome are described. Neuropathic bladder and lax abdominal wall musculature were present in one case. In the other, paralysis and marked hypoplasia of one arm, and an ipsilateral Horner's syndrome, were the main abnormalities. Extensive skin scarring corresponding to a dermatome distribution was present in both children. This

M. Borzyskowski; R. F. Harris; R. W. A. Jones



Classification of Malabsorption Syndromes  

Microsoft Academic Search

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

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



Plummer-Vinson syndrome  

PubMed Central

Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

Novacek, Gottfried



Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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

Wachtel, Tom J.; Pueschel, Siegfried M.



Goldenhar's syndrome: case report  

Microsoft Academic Search

Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo- vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is

Antônio Luiz; Barbosa PINHEIRO; Luciana Cavalcanti ARAÚJO; Suely Baptista OLIVEIRA; Maria Carmeli



Carpal Tunnel Syndrome  

PubMed Central

Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7.

Zimmerman, Gregory R.



[Schizophrenia or Asperger syndrome?].  


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

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



[Antiphospholipid syndrome and pregnancy].  


Antiphospholipid syndrome is characterized by arterial and venous thromboembolic events and persistent laboratory evidence of antiphospholipid antibodies. Obstetric complications such as recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, and HELLP syndrome are also hallmarks of antiphospholipid syndrome. This syndrome is one of the diseases associated with the most severe thrombotic risk. Changes in the hemostatic system during normal pregnancy also result in a hypercoagulable state resulting in elevated thrombotic risk. Thromboembolic events are responsible of the vast majority of maternal and fetal deaths. Administration of appropriate thromboprophylaxis helps prevent thromboembolic complications during pregnancy in women with antiphospholipid syndrome and also give birth to healthy children. It is important to centralize the medication and management of these patients. It helps in the thoughtful care of these pregnant women encountering serious problems. PMID:22846489

Gadó, Klára; Domján, Gyula



Dialysis disequilibrium syndrome.  


The dialysis disequilibrium syndrome is a rare but serious complication of hemodialysis. Despite the fact that maintenance hemodialysis has been a routine procedure for over 50 years, this syndrome remains poorly understood. The signs and symptoms vary widely from restlessness and headache to coma and death. While cerebral edema and increased intracranial pressure are the primary contributing factors to this syndrome and are the target of therapy, the precise mechanisms for their development remain elusive. Treatment of this syndrome once it has developed is rarely successful. Thus, measures to avoid its development are crucial. In this review, we will examine the pathophysiology of this syndrome and discuss the factors to consider in avoiding its development. PMID:22710692

Zepeda-Orozco, Diana; Quigley, Raymond



Metabolic Syndrome in Japanese Patients with Obstructive Sleep Apnea Syndrome  

Microsoft Academic Search

We investigated the prevalence of metabolic syndrome in patients with obstructive sleep apnea syndrome (OSAS) referred to a tertiary university–based medical center. A cross-sectional study of patients with a definite diagnosis of OSAS was performed using new diagnostic criteria for metabolic syndrome that were designed for the Japanese population. Clinical features and comorbidities related to metabolic syndrome were compared between

Ryujiro Sasanabe; Katsuhisa Banno; Kazuo Otake; Rika Hasegawa; Kengo Usui; Mikiko Morita; Toshiaki Shiomi



Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)  

Microsoft Academic Search

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG

B D Coppin; I K Temple



Periodic Table of the Elements  

NSDL National Science Digital Library

A Resource for Elementary, Middle School, and High School Students provided by the Chemistry Division of Los Alamos National Laboratory. Information on the history, sources, properties, uses, compounds, etc., of the elementsis accessed by clicking on a Periodic Table.


Autism: A "Critical Period" Disorder?  

PubMed Central

Cortical circuits in the brain are refined by experience during critical periods early in postnatal life. Critical periods are regulated by the balance of excitatory and inhibitory (E/I) neurotransmission in the brain during development. There is now increasing evidence of E/I imbalance in autism, a complex genetic neurodevelopmental disorder diagnosed by abnormal socialization, impaired communication, and repetitive behaviors or restricted interests. The underlying cause is still largely unknown and there is no fully effective treatment or cure. We propose that alteration of the expression and/or timing of critical period circuit refinement in primary sensory brain areas may significantly contribute to autistic phenotypes, including cognitive and behavioral impairments. Dissection of the cellular and molecular mechanisms governing well-established critical periods represents a powerful tool to identify new potential therapeutic targets to restore normal plasticity and function in affected neuronal circuits.

LeBlanc, Jocelyn J.; Fagiolini, Michela



Periodic Table of Toxic Elements  

NSDL National Science Digital Library

This interactive periodic table provides information about elements and radionuclides that are potentially toxic to human health. Click on a highlighted element to read about its properties, commercial and industrial uses, and health effects.

Doctors, Corrosion


The Periodic Table of Elements  

NSDL National Science Digital Library

This website developed by the Faculty of Chemical Technology in Croatia provides an interactive Periodic Table of Elements. Students and educators can find information dealing with each element's discovery history, thermal properties, ionization energy, minerals and use, isotopes, and reduction potentials. Besides the standard periodic table, this easily navigable website features an online remote control where visitors can quickly obtain information about the chemical either by name or symbol and definitions to chemical terms.


The Periodic Table of Elements  

NSDL National Science Digital Library

This website developed by the Faculty of Chemical Technology in Croatia provides an interactive Periodic Table of Elements. Students and educators can find information dealing with each element's discovery history, thermal properties, ionization energy, minerals and use, isotopes, and reduction potentials. Besides the standard periodic table, this easily navigable website features an online remote control where visitors can quickly obtain information about the chemical either by name or symbol and definitions to chemical terms.