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1

Periodic Syndromes  

Microsoft Academic Search

\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Hereditary periodic fever syndromes are autoinflammatory diseases characterized by episodes of fever with serosal, synovial,\\u000a and\\/or skin inflammation.\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) are inherited in an autosomal\\u000a recessive manner and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), familial cold autoinflammatory syndrome\\u000a (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease

John G. Ryan; Daniel L. Kastner

2

Periodic Syndromes  

Microsoft Academic Search

\\u000a Several forms of arthritis may present with patterns of exacerbation and remission that may be considered periodic. This chapter\\u000a focuses on six clinically distinct illnesses in which underlying genes have been identified, and in addition a group of disorders\\u000a of unclear etiology.

John G. Ryan; Daniel L. Kastner

3

Periodic Fever Syndromes  

Microsoft Academic Search

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

Zachary Jacobs; Christina E. Ciaccio

2010-01-01

4

[Childhood periodic syndromes].  

PubMed

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis is entertained after exhaustive evaluations have proved unrevealing. The recommended diagnostic approach uses a strategy of targeted testing, which may include gastrointestinal and metabolic evaluations. Therapeutic recommendations include reassurance, both of the child and parents, lifestyle changes, prophylactic therapy (e.g., cyproheptadine in children 5 years or younger and amitriptyline for those older than 5 years), and acute therapy (e.g., triptans, as abortive therapy, and 10% glucose and ondansetron for those requiring intravenous hydration). PMID:20447666

Cuvellier, J-C; Lépine, A

2010-01-01

5

Periodic fever syndrome in children  

Microsoft Academic Search

Objectives: To describe the presentation, clinical course, therapeutic response, and long-term follow-up of patients with a syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Study design: Patients with PFAPA (n = 94) referred over a 10-year period completed a registry form and provided medical records. Follow-up telephone calls were made in late 1997 to determine the persistence

Kenneth Tyson Thomas; Henry M. Feder; Alexander R. Lawton; Kathryn M. Edwards

1999-01-01

6

Duplication and Deletion of CFC1 Associated with Heterotaxy Syndrome.  

PubMed

Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left-right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the Affymetrix Genome-Wide Human SNP 6.0 Array. The results were confirmed in the remaining 81 patients and 500 healthy children by quantitative real-time polymerase chain reaction (qPCR). The analysis of the SNP6.0 array showed a duplication of chromosome 2q21.1, which was verified by qPCR. The result of qPCR in the other 81 patients showed that 8/81 patients had the CNVs of 2q21.1 and the only overlapping gene in these patients is CFC1. However, in the 500 healthy children, only one carried the duplication of CFC1 (p=3.5×10(-7)). The duplication and deletion of CFC1 may play key roles in the occurrence of heterotaxy syndrome. Moreover, the transposed great arteries, double outlet right ventricle, single atrium, and single ventricle may share a common genetic etiology with the heterotaxy syndrome. PMID:25423076

Cao, Ruixue; Long, Fei; Wang, Liping; Xu, Yuejuan; Guo, Ying; Li, Fen; Chen, Sun; Sun, Kun; Xu, Rang

2014-11-25

7

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

MedlinePLUS

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

8

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

Microsoft Academic Search

:   This paper aims to remind paediatric clinicians to suspect and confirm ‘PFAPA’ syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome). We report two cases of PFAPA syndrome: a 3-year-old healthy boy with atopic rhinitis and a boy aged 8 years\\u000a 5 months who simultaneously had lymphocytic vasculitis syndrome treated with immunosuppressive drugs. Both met Marshall’s\\u000a criteria. The

Wen-I Lee; Mei-Hui Yang; Kam-Fai Lee; Li-Chen Chen; Syh-Jae Lin; Kuo-Wei Yeh; Jing-Long Huang

1999-01-01

9

Marshall's syndrome or PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome  

Microsoft Academic Search

Summary Disease name and synonyms Excluded disease Diagnosis criteria \\/ Definition Differential diagnosis Clinical description Management including treatment Etiology Diagnostic methods References Summary Marshall's syndrome or PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome is a pediatric periodic disease characterized by recurrent febrile episodes associated with head and neck symptoms. The origin of this syndrome, which can last for

Marco Berlucchi; Piero Nicolai; Anne-Marie Prieur; Spedali Civili; Piazza Spedali Civili

10

[Hyperimmunoglobulinemia D and periodic fever syndrome].  

PubMed

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

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

2014-07-01

11

Periodic Limb Movement Disorder and Restless Legs Syndrome  

MedlinePLUS

... Brain, Spinal Cord, and Nerve Disorders Sleep Disorders Periodic Limb Movement Disorder and Restless Legs Syndrome Symptoms Diagnosis Treatment Back to Top Helpful Resources First Aid Pronunciations Common Medical Tests Drug Names Table Weights and Measures Resources for Help and Information ...

12

Strategies in the treatment of HIV-1-associated adipose redistribution syndromes.  

PubMed

HIV-1/highly active antiretroviral therapy-associated lipodystrophy syndrome (HALS) is presently the most common long-term adverse effect limiting the doubtless efficacy of antiretroviral therapy. It has a great impact on the quality of life of patients, it is stigmatising and its psychologically devastating consequences may ultimately impact on the adherence to treatment of patients, eventually leading to treatment failure. Despite considerable advances in recent times, the pathogenesis of HALS remains elusive. Factors involved belong to three categories: those intrinsic to the host, some of them modifiable and some not, those associated with antiretroviral therapy, that are sometimes modifiable as well, and finally those related to HIV-1 infection and its consequences, most often not modifiable. The most commonly used strategies for HALS reversion have included host-dependent factors such as lifestyle and dietary modifications and antiretroviral-dependent factors such as switching or avoiding the use of drugs more prone to promote HALS. Lifestyle modifications and switching thymidine analogues have been associated with moderate success. Pharmacological interventions have included the use of insulin-sensitising agents and hormone therapy with disappointing results, whereas treatment with pravastatin or pioglitazone, and uridine supplementation seem to be associated with fat gain in preliminary studies. The only interventions with almost immediate results that may render a patient's appearance similar to his past one have included filling techniques for facial lipoatrophy and ultrasound-assisted liposuction for cervical fat pad hypertrophy. Among the filling options, semipermanent reabsorbable materials and autologous fat transfer have been associated with acceptable outcomes. As of now, the best hope should rely on the use of drugs friendly for fat, on defining the appropriate timing for starting antiretroviral and on continuing the research effort to understand the basic mechanisms underlying HALS pathogenesis. Only through this effort can the best chances for preventing or reverting established HALS be recognised. PMID:17696790

del Mar Gutierrez, María; Mateo, Gracia; Domingo, Pere

2007-08-01

13

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

Microsoft Academic Search

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

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

2004-01-01

14

Oral manifestations of a possible new periodic fever syndrome.  

PubMed

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

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

2007-01-01

15

Cryopyrin-Associated Periodic Syndromes: Otolaryngologic and Audiologic Manifestations  

PubMed Central

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

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

2012-01-01

16

Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings  

Microsoft Academic Search

PFAPA syndrome is characterized by episodes of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. PFAPA\\u000a syndrome usually begins in children under 5 years old and normally has self-resolution. The etiology of PFAPA syndrome remains\\u000a unknown. In this paper, we report the cases of two different families with siblings with PFAPA syndrome: two sisters and two\\u000a brothers. To our knowledge, this

Patricia M. Valenzuela; Daniela Majerson; Jose L. Tapia; Eduardo Talesnik

2009-01-01

17

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

PubMed Central

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

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

2014-01-01

18

A case of neuroleptic malignant syndrome induced by olanzapine in postpartum period.  

PubMed

Neuroleptic malignant syndrome (NMS) is a life-threatening medical complication that occurs as a result of dopaminergic receptor blockage in nigrostriatal pathways. This syndrome is mainly accepted to be an idiosyncratic reaction for antipsychotic medications. Incidence of NMS induced by olanzapine - an atypical antipsychotic - is extremely rare. However, there has been contradiction on postpartum period as a risk factor for NMS. This case is of interest due to the fact that it happens on postpartum period and is induced by olanzapine. We aimed in this study to evaluate the successfully cured case of neuroleptic malignant syndrome induced by olanzapine in postpartum period with the literature view. PMID:20680143

Ustünda?, Mehmet; Orak, Murat; Gülo?lu, Cahfer; Sayhan, Mustafa Burak; Ta?, Mahmut

2007-10-01

19

A case of neuroleptic malignant syndrome induced by olanzapine in postpartum period  

PubMed Central

Neuroleptic malignant syndrome (NMS) is a life-threatening medical complication that occurs as a result of dopaminergic receptor blockage in nigrostriatal pathways. This syndrome is mainly accepted to be an idiosyncratic reaction for antipsychotic medications. Incidence of NMS induced by olanzapine - an atypical antipsychotic - is extremely rare. However, there has been contradiction on postpartum period as a risk factor for NMS. This case is of interest due to the fact that it happens on postpartum period and is induced by olanzapine. We aimed in this study to evaluate the successfully cured case of neuroleptic malignant syndrome induced by olanzapine in postpartum period with the literature view. PMID:20680143

Üstünda?, Mehmet; Orak, Murat; Gülo?lu, Cahfer; Sayhan, Mustafa Burak; Ta?, Mahmut

2007-01-01

20

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.  

PubMed

Biventricular hypertrophy (BVH) is a disease state characterized by the thickening of the ventricle walls. The differential diagnosis of BVH with other congenital and familial diseases in which increased ventricle wall thickness is a prominent clinical feature is fundamental due to its therapeutic and prognostic value, mainly during infancy. We describe a 2-month-old infant presenting BVH. Using exome sequencing, we identified a novel de novo 3-bp deletion in the RAF1 gene that is located in the binding active site for the 14-3-3 peptide. Based on docking calculations, we demonstrate that this novel mutation impairs protein/target binding, thus constitutively activating Ras signaling, which is a dysregulation associated with Noonan syndrome. Finally, our study underlines the importance of molecular modeling to understand the roles of novel mutations in pathogenesis. PMID:24782337

Sana, Maria Elena; Spitaleri, Andrea; Spiliotopoulos, Dimitrios; Pezzoli, Laura; Preda, Laura; Musco, Giovanna; Ferrazzi, Paolo; Iascone, Maria

2014-08-01

21

Restless legs and periodic leg movements in sleep syndromes  

Microsoft Academic Search

Restless legs syndrome (RLS) is a common sensorimotor disorder with an estimated prevalence of between 1% and 5%. The symptomatology\\u000a is characterized by unpleasant sensations experienced predominantly in the legs and rerely in the arms. The symptoms occur\\u000a only at rest and become more pronounced in the evening or at night. In addition, the patients suffer from a strong urge

Thomas C. Wetter; Thomas Pollmächer

1997-01-01

22

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

Microsoft Academic Search

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

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

2008-01-01

23

Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome.  

PubMed

Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V flow cytometry and caspase-3/7 activity in peripheral-blood lymphocytes from symptom-free patients with hyper-IgD and periodic fever syndrome (HIDS; n = 10), TNF-receptor-associated periodic syndrome (TRAPS; n = 7), and familial Mediterranean fever (FMF; n = 2). HIDS lymphocytes showed a decreased percentage of apoptosis during remission by both methods compared with controls (17.8% vs 55.4%), whereas no difference was observed in TRAPS or FMF lymphocytes. This defective apoptosis of lymphocytes may be a central pathogenic mechanism in HIDS, since dysfunction of one of the inhibitory mechanisms to curtail the immunologic response could cause an unbridled generalized inflammation after a trivial stimulus. PMID:17138829

Bodar, Evelien J; van der Hilst, Jeroen C H; van Heerde, Waander; van der Meer, Jos W M; Drenth, Joost P H; Simon, Anna

2007-03-15

24

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

Microsoft Academic Search

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

Maurice M. Ohayon; Thomas Roth

2002-01-01

25

A novel mutation of laminin ?-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.  

PubMed

Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient. PMID:24032283

Aydin, B; Ipek, M S; Ozaltin, F; Zenciro?lu, A; Dilli, D; Beken, S; Okumu?, N; Ho?a?asi, N; Saygili-Karagöl, B; Kundak, A; Renda, R; Aydog, O

2013-01-01

26

Increased Electroencephalographic High Frequencies during the Sleep Onset Period in Patients with Restless Legs Syndrome  

PubMed Central

Study Objectives: To analyze the electroencephalographic (EEG) spectral content in untreated patients with restless legs syndrome (RLS) during the sleep onset period (SOP) and during the quiet wakefulness preceding sleep, in order to test the hypothesis that a state of hyperarousal might be present during the SOP with RLS. Setting: Sleep Research Centre. Patients: Twenty-seven untreated consecutive patients with RLS (mean age = 53.6 y), 11 untreated consecutive patients with primary insomnia (mean age = 58.9 y), and 14 normal controls (mean age = 50.3 y). Methods: SOP was defined as the 10-min period centered with the occurrence of the first sleep spindle in the EEG, and then subdivided into SOP-1 (period of 5 min before the first spindle) and SOP-2 (period of 5 min following). Leg movements occurring during SOP were counted and used as a covariate in the statistical analysis. Also, one period of 1 min of artifact-free quiet wakefulness after lights off was identified. EEG spectral analysis was run during these periods using the C3/A2 or C4/A1 channel. Measurements and Results: Increased EEG alpha and beta bands and/or beta/delta ratio in RLS versus normal controls, during both wakefulness preceding sleep and SOP (both parts SOP-1 and SOP-2) were found, which were, however, smaller than the increases found in patients with insomnia. Conclusion: The results of this study support the hypothesis of the presence of a state of hyperarousal in restless legs syndrome (RLS) during the sleep onset period. Treatment for RLS might need to take these findings into consideration. Citation: Ferri R, Cosentino FI, Manconi M, Rundo F, Bruni O, Zucconi M. Increased electroencephalographic high frequencies during the sleep onset period in patients with restless legs syndrome. SLEEP 2014;37(8):1375-1381. PMID:25083018

Ferri, Raffaele; Cosentino, Filomena I.I.; Manconi, Mauro; Rundo, Francesco; Bruni, Oliviero; Zucconi, Marco

2014-01-01

27

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

ERIC Educational Resources Information Center

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

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

2011-01-01

28

Periodic Limbic Movement Disorder during Sleep as Diabetes-Related Syndrome? A Polysomnographic Study  

PubMed Central

Introduction. Periodic limb movements during sleep (PLMs) is common in the elderly. When quality-of-life drops due to sleep disturbances, we speak about periodic limb movement disorder during sleep (PLMD). Another similar disorder, restless legs syndrome (RLS), is considered to be related to diabetes; RLS and PLMDs are genetically related. Our aim was to detect PLMDs in a population of diabetic patients and identify them as possible hallmarks of these autonomic disorders. Material and Methods. We selected 41 type-2 diabetics with no sleep comorbidity, and compared them with 38 healthy matched volunteers. All participants underwent the Epworth Sleepiness Scale (ESS) and polysomnography (PSG). A periodic limb movement (PLM) index >5, that is, the higher number of PLMs/sleep hour for the entire night, was considered as abnormal. Results. Diabetics showed lower sleep efficiency than controls on the ESS, lower proportions of REM and non-REM sleep, and higher arousal and PLM indexes, as assessed through PSG. PLMDs were diagnosed in 13 of 41 diabetic patients (31%); the latter showed lower sleep efficiency, lower non-REM slow-wave sleep, and increased arousal and PLM indexes. Conclusion. The relationship between PLMs-related sleep fragmentation and endocrine carbohydrate metabolism regulation might be casual or genetically determined. This deserves further investigations. PMID:22363869

Rizzi, M.; Barrella, M.; Kotzalidis, G. D.; Bevilacqua, M.

2011-01-01

29

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

PubMed

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

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

2010-02-01

30

Behavioral Sleep Medicine Interventions for Restless Legs Syndrome and Periodic Limb Movement Disorder.  

PubMed

Restless Legs Syndrome (RLS) and Periodic Limb Movement Disorder (PLMD) are sleep disorders that are commonly seen in clinical practice. The standard treatment recommendations for these disorders are pharmacologic; most recently both conditions are most typically managed with pramipexole or ropinerole, which are FDA approved for the treatment of RLS. A mix of behavioral suggestions is included in treatment algorithms for providers as well as in patient education materials. While these suggestions have considerable merit, they are typically not delivered as an intervention, but instead provided as a series of helpful tips. There is emerging evidence for providing such suggestions as a more active and comprehensive intervention as part of a cognitive-behavioral package as well as for exercise therapy and cognitive behavioral therapy for insomnia to be delivered as active treatments for RLS and/or PLMD. PMID:20161553

Pigeon, Wilfred R; Yurcheshen, Michael

2009-12-01

31

Extracts from The Cochrane Library: Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA)  

Microsoft Academic Search

The “Cochrane Corner” is a quarterly section in the journal that highlights systematic reviews relevant to otolaryngology–head and neck surgery, with invited commentary to aid clinical decision making. This installment features a Cochrane Review titled “Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA),” which suggests beneficial effects of surgery for up to 18 months, but also

Ronald B. Kuppersmith; Scott T. Schams; Richard M. Rosenfeld

2010-01-01

32

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

Microsoft Academic Search

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

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

2010-01-01

33

Surgical outcomes and histology findings after tonsillectomy in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome  

Microsoft Academic Search

PurposeThis study aimed to evaluate (a) specific histologic findings in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome who had tonsillectomy and (b) to assess any improvement of symptoms after tonsillectomy with or without adenoidectomy.

Stamatios Peridis; Emmanouel Koudoumnakis; Anastasios Theodoridis; Kalliopi Stefanaki; George Helmis; Michael Houlakis

2010-01-01

34

Periodization  

PubMed Central

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

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

2010-01-01

35

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

Microsoft Academic Search

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

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

36

Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome  

Microsoft Academic Search

We report 28 patients (20 male) with a syndrome characterized by abrupt onset of fever, malaise, aphthous stomatitis, tonsillitis, pharyngitis, and cervical adenopathy (PFAPA syndrome). Episodes of fever occurred at intervals of 5.1 ± 1.3 weeks beginning at the age of 4.2 ± 2.7 years. Fever, malaise, tonsillitis with negative throat cultures, and cervical adenopathy were reported in all 28

Shai Padeh; Naphtali Brezniak; Debora Zemer; Elon Pras; Avi Livneh; Pnina Langevitz; Amyel Migdal; Mordechai Pras; Justen H. Passwell

1999-01-01

37

A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS)  

PubMed Central

Mutations in TNFRSF1A encoding TNF receptor 1 (TNFR1) cause the autosomal dominant TNF receptor-associated periodic syndrome (TRAPS): a systemic autoinflammatory disorder. Misfolding, intracellular aggregation, and ligand-independent signaling by mutant TNFR1 are central to disease pathophysiology. Our aim was to understand the extent of signaling pathway perturbation in TRAPS. A prototypic mutant TNFR1 (C33Y), and wild-type TNFR1 (WT), were expressed at near physiological levels in an SK-Hep-1 cell model. TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls. In C33Y-TNFR1-expressing SK-Hep-1 cells and TRAPS patients’ PBMCs, a subtle, constitutive upregulation of a wide spectrum of signaling intermediates and their phosphorylated forms was observed; these were associated with a proinflammatory/antiapoptotic phenotype. In TRAPS patients’ PBMCs, this upregulation of proinflammatory signaling pathways was observed irrespective of concurrent treatment with glucocorticoids, anakinra or etanercept, and the absence of overt clinical symptoms at the time that the blood samples were taken. This study reveals the pleiotropic effect of a TRAPS-associated mutant form of TNFR1 on inflammatory signaling pathways (a proinflammatory signalome), which is consistent with the variable and limited efficacy of cytokine-blocking therapies in TRAPS. It highlights new potential target pathways for therapeutic intervention. PMID:24668260

Negm, Ola H; Mannsperger, Heiko A; McDermott, Elizabeth M; Drewe, Elizabeth; Powell, Richard J; Todd, Ian; Fairclough, Lucy C; Tighe, Patrick J

2014-01-01

38

A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS).  

PubMed

Mutations in TNFRSF1A encoding TNF receptor 1 (TNFR1) cause the autosomal dominant TNF receptor-associated periodic syndrome (TRAPS): a systemic autoinflammatory disorder. Misfolding, intracellular aggregation, and ligand-independent signaling by mutant TNFR1 are central to disease pathophysiology. Our aim was to understand the extent of signaling pathway perturbation in TRAPS. A prototypic mutant TNFR1 (C33Y), and wild-type TNFR1 (WT), were expressed at near physiological levels in an SK-Hep-1 cell model. TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls. In C33Y-TNFR1-expressing SK-Hep-1 cells and TRAPS patients' PBMCs, a subtle, constitutive upregulation of a wide spectrum of signaling intermediates and their phosphorylated forms was observed; these were associated with a proinflammatory/antiapoptotic phenotype. In TRAPS patients' PBMCs, this upregulation of proinflammatory signaling pathways was observed irrespective of concurrent treatment with glucocorticoids, anakinra or etanercept, and the absence of overt clinical symptoms at the time that the blood samples were taken. This study reveals the pleiotropic effect of a TRAPS-associated mutant form of TNFR1 on inflammatory signaling pathways (a proinflammatory signalome), which is consistent with the variable and limited efficacy of cytokine-blocking therapies in TRAPS. It highlights new potential target pathways for therapeutic intervention. PMID:24668260

Negm, Ola H; Mannsperger, Heiko A; McDermott, Elizabeth M; Drewe, Elizabeth; Powell, Richard J; Todd, Ian; Fairclough, Lucy C; Tighe, Patrick J

2014-07-01

39

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

ERIC Educational Resources Information Center

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

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

2007-01-01

40

[Neurological and psychopathological syndromes in the follow-up period after exposure to ionizing radiation].  

PubMed

Neurologic, psychiatric and psychophysiologic (computed EEG) examinations were carried out in 100 Chernobyl accident's survivors who had got acute radiation sickness (ARS), in 100 Chernobyl liquidators who worked for 5 or more years in the zone (1986-1987) as well as in control groups: 20 normal age- and gender-matched adults and 50 veterans of the Afganistan war with consequences of the posttraumatic stress disorder (PTSD) and 50 veterans with both PTSD and mild closed head injury. Left-hemispheric cortical-limbic and diencephalic right-hemispheric syndromes were revealed. Left-hemispheric frontal-temporal-limbic dysfunction was associated with schizophrenia-like syndrome, while diencephalic right-hemispheric dysfunction--with the affective syndrome. Doses more than 0.3 Sv (including the ARS-patients) resulted more frequently in the left-hemispheric cortical-limbic and schizophrenia-like syndromes. Diencephalic right-hemispheric and affective syndromes were more frequently observed after the exposure to doses less [corrected] than 0.3 Sv. Development of schizophrenia spectrum disorders in the irradiated Chernobyl survivors could be due to radiation-induced left fronto-temporal-limbic dysfunction following irradiation doses more than 0.3 Sv (including the ARS-patients). The cerebral patterns of schizophrenia and postradiation brain damage are similar. Persons exposed fo 0.3 Sv and more could be classified as the group of higher risk of the development of schizophrenia spectrum disorders. The authors suggest that ionizing radiation may be an environmental trigger factor which can cause schizophrenia in the predisposed subjects. PMID:10812665

Loganovski?, K N

2000-01-01

41

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

PubMed Central

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

Walters, Arthur S.; Rye, David B.

2009-01-01

42

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

PubMed Central

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

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

2013-01-01

43

Pregnancy and puerperium are high susceptibility periods for the development of catastrophic antiphospholipid syndrome.  

PubMed

It is well known that antiphospholipid syndrome (APS) is associated with recurrent pregnancies losses, but is also associated with other obstetric features such as preeclampsia, uteroplacental insufficiency and preterm birth. Pregnancy is a hypercoagulable state than can be complicated by thrombosis, especially in those patients with an underlying thrombophilic disorder. Catastrophic APS is a rare form of presentation of the APS. Several trigger factors have been related with the catastrophic APS, including infections, anticoagulation withdrawal, surgery, neoplasms and lupus "flares". In around 6% of the cases, the catastrophic APS can appear during pregnancy or puerperium. We review this specific subset of the catastrophic APS and propose a therapeutical approach for this particular situation. PMID:17138249

Gómez-Puerta, José A; Cervera, Ricard; Espinosa, Gerard; Bucciarelli, Silvia; Font, Josep

2006-12-01

44

Distinguishing Among Prolonged, Recurrent, and Periodic Fever Syndromes: Approach of a Pediatric Infectious Diseases Subspecialist  

Microsoft Academic Search

Approaching the differential diagnosis of a child with a prolonged, recurrent, or periodic fever requires an extensive interview with disciplined dissection of the history. Diagnoses are considered and supported or excluded. Review of systems is used to understand the totality of the condition and to seek certain occurrences specific to diagnoses considered. A careful and complete physical examination is systems

Sarah S. Long

45

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

Microsoft Academic Search

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

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

2008-01-01

46

Combined adaptive servo-ventilation and automatic positive airway pressure (anticyclic modulated ventilation) in co-existing obstructive and central sleep apnea syndrome and periodic breathing  

Microsoft Academic Search

BackgroundThe co-existence of obstructive and central sleep apnea\\/hypopnea syndrome (OSAS) and periodic breathing is common in patients with and without underlying heart diseases. While automatic continuous positive airway pressure (APAP) has proven to effectively treat OSAS, the adaptive servo-ventilation (ASV) sufficiently improves periodic breathing. This is the first trial on a device which combines both treatment modes.

Winfried J. Randerath; Wolfgang Galetke; Marlene Kenter; Kerstin Richter; Thorsten Schäfer

2009-01-01

47

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

PubMed Central

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

Dick, P T

1996-01-01

48

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

Microsoft Academic Search

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

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

2008-01-01

49

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

PubMed Central

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

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

2013-01-01

50

Clinical, Etiologic, and Histopathologic Features of Stevens-Johnson Syndrome During an 8-Year Period at Mayo Clinic  

PubMed Central

OBJECTIVE: To examine clinical, etiologic, and histologic features of Stevens-Johnson syndrome and to identify possible correlates of clinical disease severity related to etiologic and histopathologic findings. PATIENTS AND METHODS: This is a retrospective review of patients seen at Mayo Clinic between January 1, 2000, and December 31, 2007. RESULTS: Of 27 patients (mean age, 28.1 years), 22 (81%) had involvement of 2 or more mucous membranes, and 19 (70%) had ocular involvement. Medications, most commonly antibiotics and anticonvulsants, were causative in 20 patients. Mycoplasma pneumoniae infection caused 6 of the 27 cases. Corticosteroids were the most common systemic therapy. No patients with mycoplasma-induced Stevens-Johnson syndrome had internal organ involvement or required treatment in the intensive care unit, in contrast to 4 patients each in the drug-induced group. Three patients had chronic ocular sequelae, and 1 died of complications. Biopsy specimens from 13 patients (48%) showed epidermal necrosis (8 patients), basal vacuolar change (10 patients), and subepidermal bullae (10 patients). Biopsy specimens from 11 patients displayed moderate or dense dermal infiltrate. Histologic features in drug-induced cases included individual necrotic keratinocytes, dense dermal infiltrate, red blood cell extravasation, pigment incontinence, parakeratosis, and substantial eosinophils or neutrophils. CONCLUSION: Our clinical and etiologic findings corroborate those in previous reports. M pneumoniae—induced Stevens-Johnson syndrome manifested less severely than its drug-induced counterpart. The limited number of biopsies precludes unequivocal demonstration of histopathologic differences between drug-induced and M pneumoniae—induced Stevens-Johnson syndrome. PMID:20118388

Wetter, David A.; Camilleri, Michael J.

2010-01-01

51

Olmsted Syndrome  

PubMed Central

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment. PMID:23320205

Elise Tonoli, Renata; De Villa, Damiê; Hübner Frainer, Renata; Pizzarro Meneghello, Luana; Ricachnevsky, Nelson; de Quadros, Maurício

2012-01-01

52

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

PubMed Central

Background The HELLP syndrome (haemolysis, elevated liver enzymes, and low-platelet count) occurs in about 0.5 to 0.9% of all pregnancies. With occurrence of thrombocytopaenia, it signals for several potentially lethal conditions such as complete or partial HELLP syndrome, thrombotic thrombocytopaenic purpura and acute fatty liver of pregnancy. Case presentation A previously healthy 27-year-old, Sinhala ethnic primigravida with pregnancy-induced hypertension was admitted at 38 weeks of gestation with lower abdominal pain and a blood pressure of 140/90 mmHg. She underwent emergency Caesarian section due to faetal distress giving birth to a healthy baby girl. Since postpartum day one, she was having intermittent fever spikes. All the routine investigations were normal in the first three weeks. Platelet count started dropping from post-partum day-20 onwards. On day-23, she had developed a seizure and computed tomography scan brain showed a subdural haemorrhage. She had a platelet count of 22,000?×?109/liter and was managed conservatively. She also had elevated liver enzymes, lactate dehydrogenase and bilirubin levels. Blood picture on day-24 showed haemolytic anemia. On day- 36, patient again developed seizures and she was having intermittent fever with generalized headache and signs of meningism. Computed tomography scan revealed an acute on chronic subdural haemorrhage. Conclusions Hypertensive disorders in pregnancy should be managed as high-risk throughout the postpartum period. Development of thrombocytopaenia can be considered as an early warning sign for HELLP, thrombotic thrombocytopaenic purpura or acute fatty liver of pregnancy which are lethal conditions. Prompt recognition of intracranial haemorrhages and early neurosurgical intervention is lifesaving. PMID:24972626

2014-01-01

53

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. PMID:23442610

2013-01-01

54

Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-?B activation  

Microsoft Academic Search

Objective. To investigate the molecular conse- quences of expressing mutated forms of tumor necrosis factor receptor I (TNFRI) as found in patients with TNFR-associated periodic syndrome (TRAPS). Methods. We cloned and expressed full-length wild-type (WT) and T50K and P46L variants of TNFRI using a new tightly regulated doxycycline-dependent expression system. This system enabled the study of molecular interactions between these

Nasim Yousaf; David J. Gould; Ebun Aganna; Linda Hammond; Rita M. Mirakian; Mark D. Turner; Graham A. Hitman; Michael F. McDermott; Yuti Chernajovsky

2005-01-01

55

Compartment syndromes  

NASA Technical Reports Server (NTRS)

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

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

1989-01-01

56

Premenstrual Syndrome (PMS)  

MedlinePLUS

... PMS) symptom tracker (PDF, 66 KB) Mental health Menstruation and the menstrual cycle What is premenstrual syndrome ( ... occur 1 to 2 weeks before your period (menstruation or monthly bleeding) starts. The symptoms usually go ...

57

Beckwith-Wiedemann syndrome  

MedlinePLUS

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

58

Restless Legs Syndrome  

MedlinePLUS

Table of Contents (click to jump to sections) What is restless legs syndrome? What are common signs ... also experience a more common condition known as periodic limb movement of sleep (PLMS). PLMS is characterized ...

59

Guillain-Barre Syndrome  

MedlinePLUS

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

60

Tourette Syndrome  

MedlinePLUS

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

61

Tourette Syndrome  

MedlinePLUS

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

62

Wallenberg's Syndrome  

MedlinePLUS

NINDS Wallenberg's Syndrome Information Page Synonym(s): Lateral Medullary Syndrome Table of Contents (click to jump to sections) What is ... is being done? Clinical Trials Organizations What is Wallenberg's Syndrome? Wallenberg’s syndrome is a neurological condition caused ...

63

Bp stars in Orion OB1 association  

NASA Astrophysics Data System (ADS)

A total of 85 CP stars of various types are identified among 814 members of the Orion OB1 association. We selected 59 Bp stars, which account for 13.4% of the total number of B type stars in the association. The fraction of peculiar B type stars in the association is found to be twice higher than that of peculiar A type stars. Magnetic field are found in 22 stars, 17 of them are objects with anomalous helium lines. No significant differences are found between the field strengths in the Bp type stars of the association and Bp type field stars. We identified 17 binaries, which make up 20% of the total number of peculiar stars studied which is the standard ratio for CP stars.

Romanyuk, Iosif I.; Yakunin, Ilya A.

2014-08-01

64

[Can we explain the sudden infant death syndrome? About a series of 80 cases with an autopsy in Rennes University Hospital, France in the period 1994-2007].  

PubMed

Sudden infant death syndrome (SIDS) is a huge hardship for parents, but also for health professionals. In 2007, 210 cases occurred in France, corresponding to a crude rate of 31.8 for 100,000 births. Between 1994 and 2007, 140 children of less than 2 years old were examined in the reference centre for SIDS in Rennes, France. We included in our study the children who were aged more than 28 days at death date, did not have a known lethal disease and were autopsied. A total of 80 children fulfilled those criteria. Post-mortem investigation included an autopsy, clinical and paraclinical exams (blood test, radiography, CT-scan...), and investigation of the circumstances of the death. Most of the cases were boys and were 2- to 5-month old. Ventral decubitus and gastrointestinal symptoms were often present. Autopsy gave elements about the causes of death in 23 cases and the other exams performed frequently showed an infectious viral context. Thanks to prevention and information campaigns about childcare done in the 1990s, SIDS incidence has largely decreased in France, but it is still too frequent. In our opinion, advice needs to be given again and again, especially concerning safe sleep practices, in order to increase adherence to these recommendations. Moreover, research should be continued to better understand this unexplained syndrome. PMID:20615676

Saint-Stéban, C; Leray, E; Jouan, H; Loget, P; Venisse, A; Roussey, M

2010-08-01

65

OPA1-associated disorders: phenotypes and pathophysiology.  

PubMed

The OPA1 gene, encoding a dynamin-like mitochondrial GTPase, is involved in autosomal dominant optic atrophy (ADOA, OMIM #165500). ADOA, also known as Kjer's optic atrophy, affects retinal ganglion cells and the axons forming the optic nerve, leading to progressive visual loss. OPA1 gene sequencing in patients with hereditary optic neuropathies indicates that the clinical spectrum of ADOA is larger than previously thought. Specific OPA1 mutations are responsible for several distinct clinical presentations, such as ADOA with deafness (ADOAD), and severe multi-systemic syndromes, the so-called "ADOA plus" disorders, which involve neurological and neuromuscular symptoms similar to those due to mitochondrial oxidative phosphorylation defects or mitochondrial DNA instability. The study of the various clinical presentations of ADOA in conjunction with the investigation of OPA1 mutations in fibroblasts from patients with optic atrophy provides new insights into the pathophysiological mechanisms of the disease while underscoring the multiple physiological roles played by OPA1 in energetic metabolism, mitochondrial structure and maintenance, and cell death. Finally, OPA1 represents an important new paradigm for emerging neurodegenerative diseases affecting mitochondrial structure, plasticity and functions. PMID:19389487

Amati-Bonneau, Patrizia; Milea, Dan; Bonneau, Dominique; Chevrollier, Arnaud; Ferré, Marc; Guillet, Virginie; Gueguen, Naïg; Loiseau, Dominique; de Crescenzo, Marie-Anne Pou; Verny, Christophe; Procaccio, Vincent; Lenaers, Guy; Reynier, Pascal

2009-10-01

66

PFAPA syndrome: new clinical aspects disclosed  

Microsoft Academic Search

Background: The recently described PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis) syndrome is characterised by periodic fever, aphthous stomatitis, pharyngitis and adenitis. However, there are currently relatively few data on the natural history of this syndrome.Objective: To describe the presentation, clinical course, doctors’ awareness, therapeutic response and long-term follow-up of children with PFAPA syndrome.Methods: Children with PFAPA syndrome referred

D Tasher; E Somekh; I Dalal

2006-01-01

67

Differential cytokine secretion results from p65 and c-Rel NF-?B subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients.  

PubMed

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene which encodes the tumor necrosis factor (TNF) receptor, TNFR1. We investigated the effect of three high penetrance and three low penetrance TNFRSF1A mutations upon NF-?B transcription factor family subunit activity, and the resulting impact upon secretion of 25 different cytokines. Whilst certain mutations resulted in elevated NF-?B p65 subunit activity, others instead resulted in elevated c-Rel subunit activity. Interestingly, high p65 activity was associated with elevated IL-8 secretion, whereas high c-Rel activity increased IL-1? and IL-12 secretion. In conclusion, while all six TNFRSF1A mutations showed enhanced NF-?B activity, different mutations stimulated distinct NF-?B family subunit activities, and this in turn resulted in the generation of unique cytokine secretory profiles. PMID:21420073

Nedjai, Belinda; Hitman, Graham A; Church, Leigh D; Minden, Kirsten; Whiteford, Margo L; McKee, Shane; Stjernberg, Susanna; Pettersson, Tom; Ranki, Annamari; Hawkins, Philip N; Arkwright, Peter D; McDermott, Michael F; Turner, Mark D

2011-01-01

68

The acquired immunodeficiency syndrome in the State of Rio de Janeiro, Brazil: a spatio-temporal analysis of cases reported in the period 2001-2010.  

PubMed

Despite increased funding for research on the human immunodeficiency virus (HIV) and the acquired immunodeficiency syndrome (AIDS), neither vaccine nor cure is yet in sight. Surveillance and prevention are essential for disease intervention, and it is recognised that spatio-temporal analysis of AIDS cases can assist the decision-making process for control of the disease. This study investigated the dynamic, spatial distribution of notified AIDS cases in the State of Rio de Janeiro, Brazil, between 2001 and 2010, based on the annual incidence in each municipality. Sequential choropleth maps were developed and used to analyse the incidence distribution and Moran's I spatial autocorrelation statistics was applied for characterisation of the spatio-temporal distribution pattern. A significant, positive spatial autocorrelation of AIDS incidence was observed indicating that municipalities with high incidence are likely to be close to other municipalities with similarly high incidence and, conversely, municipalities with low incidence are likely to be surrounded by municipalities with low incidence. Two clusters were identified; one hotspot related to the State Capital and the other with low to intermediate AIDS incidence comprising municipalities in the north-eastern region of the State of Rio de Janeiro. PMID:24893020

Alves, André T J; Nobre, Flávio F

2014-05-01

69

Down Syndrome  

MedlinePLUS

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

70

Brown Syndrome  

MedlinePLUS

... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

71

Metabolic Syndrome  

MedlinePLUS

... is a signal that someone could be on the road to serious health problems. Diagnosing metabolic syndrome helps ... like heart disease or type 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is ...

72

Williams syndrome  

MedlinePLUS

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

73

Angelman Syndrome  

MedlinePLUS

... being done? Clinical Trials Organizations What is Angelman Syndrome? Angelman syndrome is a genetic disorder that causes developmental ... and ultimately cure them. NIH Patient Recruitment for Angelman Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

74

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

PubMed

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

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

2011-01-01

75

Jacobsen syndrome  

PubMed Central

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

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

2009-01-01

76

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

PubMed

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

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

2014-07-01

77

Loin pain hematuria syndrome.  

PubMed

Loin pain hematuria syndrome is a rare disease with a prevalence of ?0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. PMID:24725981

Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

2014-09-01

78

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

PubMed

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

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

2015-01-01

79

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

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. PMID:21659547

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; Hönig, Manfred; Schulz, Ansgar; Friedrich, Wilhelm; Notarangelo, Luigi D

2011-08-11

80

Learning about Down Syndrome  

MedlinePLUS

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

81

Aicardi Syndrome  

MedlinePLUS

... males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of ...

82

Tourette Syndrome  

MedlinePLUS

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

83

Marfan Syndrome  

MedlinePLUS

... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

84

Down Syndrome  

MedlinePLUS

... Body Works Main Page The Pink Locker Society Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

85

Turner Syndrome  

MedlinePLUS

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

86

Klinefelter syndrome  

MedlinePLUS

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

87

[Styloid syndrome; Sluder's syndrome; Charlin's syndrome].  

PubMed

The styloid syndrome is caused by an irritation of the glossopharyngeal nerve from an excessive development of the styloid apophysis. Treatment consists of the resection of the same. The Sluder syndrome represents a nevralgy with origin in the sphenopalatine ganglion and a dysfunction of the parasympathetic system. The Charlin syndrome, much less frequent, manifests itself by pains in the territory of the nasociliar nerve and the ciliar ganglion. PMID:293019

Strupler, W

1979-02-01

88

Nephrotic syndrome.  

PubMed

Nephrotic syndrome refers to excessive proteinuria, with associated hypoalbuminemia, edema, and hyperlipidemia. A diverse spectrum of disorders has been associated with nephrotic syndrome and related neurologic complications, although the relative infrequency of these cases limits conclusive associations. Neurologic manifestations of nephrotic syndrome may result from hypoproteinemia, hypercoagulability, hyperlipidemia, hypertension, amyloid deposition, hormonal changes, or electrolyte disorders. Neurologic diagnosis hinges on prompt recognition of this syndrome and rational therapeutic strategies are aimed at the underlying systemic disorder. PMID:24365309

Liebeskind, David S

2014-01-01

89

HELLP syndrome  

MedlinePLUS

HELLP syndrome is a group of symptoms that occur in pregnant women who have: H -- hemolysis (the breakdown ... The cause of HELLP syndrome has not been found. HELLP syndrome occurs in about 1 to 2 out of 1,000 pregnancies, and in ...

90

Down syndrome  

MedlinePLUS

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

91

Usher Syndrome  

MedlinePLUS

Home Health Info Hearing, Ear Infections, and Deafness Usher Syndrome Usher Syndrome On this page What is Usher syndrome? Who is affected by Usher ... legally blind. Type 1 Type 2 Type 3 Hearing Profound deafness in both ears from birth Moderate to severe hearing loss from ...

92

Aase syndrome  

MedlinePLUS

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

93

Rowell syndrome  

PubMed Central

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-01-01

94

Metabolic Syndrome  

MedlinePLUS

... to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. A large ... syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or ... Metabolic Syndrome Clinical Trials Clinical trials are ...

95

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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

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

2009-01-01

96

Rowell syndrome.  

PubMed

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-11-01

97

Refeeding syndrome.  

PubMed

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly. PMID:19712606

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

98

[Bartter's syndrome].  

PubMed

Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome. PMID:15518434

Daniluk, Urszula; Kaczmarski, Maciej; Wasilewska, Jolanta; Matuszewska, Elzbieta; Semeniuk, Janusz; Sidor, Katarzyna; Krasnow, Aleksander

2004-05-01

99

Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II  

PubMed Central

Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet’s and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry. PMID:25562014

Ahmadinejad, Zahra; Mansouri, Sedigeh; Ziaee, Vahid; Aghighi, Yahya; Moradinejad, Mohammad-Hassan; Fereshteh-Mehregan, Fatemeh

2014-01-01

100

Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.  

PubMed

Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet's and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry. PMID:25562014

Ahmadinejad, Zahra; Mansouri, Sedigeh; Ziaee, Vahid; Aghighi, Yahya; Moradinejad, Mohammad-Hassan; Fereshteh-Mehregan, Fatemeh

2014-06-01

101

Irregular Periods  

MedlinePLUS

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

102

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. PMID:23723494

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

2013-01-01

103

Down Syndrome What causes Down syndrome?  

E-print Network

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

Palmeri, Thomas

104

A case of Rett syndrome.  

PubMed

A case of Rett syndrome in a-3 1/2 year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia. PMID:2488241

Lazuardi, S; Advani, N; Ismael, S

1989-01-01

105

Periodic Table  

NSDL National Science Digital Library

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

2007-05-04

106

Asperger's Syndrome  

Microsoft Academic Search

Asperger's Syndrome (AS), a Pervasive Developmental Disorder on the Autism Spectrum, is a burgeoning mental health concern faced by children, their families, schools, and mental health practitioners. Although it is a relatively new phenomenon, prevalence rates have increased 10 fold in the past decade. Whether this increase is a true increase in the prevalence of the syndrome has been the

Ernst O. Vanbergeijk; Oren Shtayermman

2005-01-01

107

Metabolic Syndrome  

MedlinePLUS

Having three or more risk factors is a sign that the body is resistant to insulin, an important hormone produced by the pancreas. ... diagnosed with the metabolic syndrome if you have three or more risk factors (see table below). FAcT SHeeT the metabolic syndrome ...

108

Angelman syndrome  

MedlinePLUS

... Genet. 2003;40(2):87-95. Dagli A, Williams CA. Angelman Syndrome. In: Pagon RA, Bird TD, Dolan CR, et ... Med Genet A. 2006;140(5):413-8. Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-95.

109

Eagle's syndrome.  

PubMed

Eagle's syndrome is a rare entity, which is not commonly suspected in clinical practice. The occurrence of similar signs in diseases other than Eagle's syndrome may make a precise diagnosis difficult and time-consuming for many clinicians. Radiological examinations are useful to make the accurate diagnosis. Three-dimensional volume-rendering CT scan is the most valuable diagnostic tool. PMID:24198961

Bouzaïdi, K; Daghfous, A; Fourati, E; Kechaou, I; Jabnoun, F; Chtioui, I

2013-01-01

110

Escobar Syndrome Mimicing Congenital Patellar Syndrome  

PubMed Central

Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

2012-01-01

111

Problem Periods  

MedlinePLUS

... when you talk to your doctor. What can affect your period top Stress. If you are under a lot of stress, your periods might stop for a bit, but they usually begin again when your stress goes down. Exercise. Too much physical activity can cause your body fat to be very low, which can cause ...

112

Incidence of Down Syndrome in Dubai, UAE  

Microsoft Academic Search

Objective: To describe incidence of Down syndrome in Dubai, United Arab Emirates (UAE). Subjects and Methods: A total of 63,398 newborn babies in Dubai (24,250 UAE nationals and 39,148 non-UAE) during a 5-year period of 1999–2003 were routinely examined by experienced nurses, neonatologists, pediatricians and\\/or general practitioners for symptoms of Down syndrome. Those suspected with Down syndrome were referred to

Sabita K. Murthy; Ashok K. Malhotra; Sara Mani; Maryam Essa A. Shara; Eman Essa Mohd Al-Rowaished; Sehba Naveed; Abdulla Ibrahim AlKhayat; Mahmoud Taleb AlAli

2007-01-01

113

Ovarian remnant syndrome.  

PubMed

Twenty-seven patients with ovarian remnant syndrome were operated on by the author in a 7-year period. All patients presented with pelvic pain as their major symptom. A mass was palpable in 20 patients. In 3 patients, no mass was palpable but a lesion was visible on computed tomographic scanning. In 4 patients, there was no palpable mass and scans were negative, yet an ovarian remnant was found at laparotomy. Segmental bowel resection was necessary to obtain clearance in 8 patients, and partial bladder resection was performed in 2. Previous pelvic operations (mean, 4.3) in this group of patients probably contributed to the development of this syndrome. The ovarian remnant syndrome occurs in a patient who has previously had a bilateral salpingo-oophorectomy. A piece of ovarian tissue remains, and this remnant often produces symptoms, usually pelvic pain and associated dyspareunia. Usually the patient has had a hysterectomy as well as bilateral salpingo-oophorectomy, so that the pain is often dismissed as 'not gynaecological' in origin. This syndrome is not synonymous with residual ovary syndrome, in which an ovary that has previously been intentionally conserved either develops an abnormal pathological process or causes symptoms necessitating its surgical removal (6). Unfortunately, awareness of the problems caused by an ovarian remnant is not widespread, and often these patients have been to many gynaecologists, general surgeons, or even psychiatrists in an attempt to get relief from their symptoms. It is not possible to estimate the incidence of symptomatic ovarian remnants, but certainly when an awareness of the syndrome develops, referral of patients with the problem is common. PMID:2631678

Webb, M J

1989-11-01

114

Fetal Alcohol Syndrome  

MedlinePLUS

... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in ...

115

PFAPA syndrome in children evaluated for tonsillectomy  

Microsoft Academic Search

Among 40 children undergoing tonsillectomy for recurrent pharyngitis, 15 (37.5%) had presented preoperatively with complaints compatible with PFAPA syndrome. All 15 had had periodic fever every three to four weeks and pharyngitis; 12 (80%) had cervical adenitis and five (33%) aphthous stomatitis. All children had been well between episodes and showed a dramatic postoperative improvement. PFAPA syndrome is not uncommon

E Galanakis; C E Papadakis; E Giannoussi; A D Karatzanis; M Bitsori; E S Helidonis

2002-01-01

116

Apert syndrome  

MedlinePLUS

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

117

Wellens' syndrome.  

PubMed

A 31-year-old male smoker with diabetes mellitus presented with intermittent, exertional chest pain. Electrocardiography revealed anterior T-wave inversions with biphasic lateral T waves, which raised concern about Wellens' syndrome. PMID:25551527

Kannan, Lakshmi; Figueredo, Vincent M

2015-01-01

118

Troyer Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Troyer Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

119

Marfan Syndrome  

MedlinePLUS

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

120

Marfan syndrome  

MedlinePLUS

Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

121

Alagille Syndrome  

MedlinePLUS

... person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal ... for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart ...

122

Moebius Syndrome  

MedlinePLUS

... syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, ... areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms ...

123

Alport Syndrome  

MedlinePLUS

... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... Register Now KEEP Healthy Event at Terre Haute Boys and Girls Club Mar 01, 2015 KEEP Healthy Event at ...

124

Reye syndrome  

MedlinePLUS

... may be used to diagnose Reye syndrome: Blood chemistry tests Head CT or head MRI scan Liver ... RM, Behrman RE,Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia ,Pa: Saunders ...

125

Asperger syndrome  

MedlinePLUS

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

126

Piriformis Syndrome  

MedlinePLUS

... and lifestyle changes. Failure to treat this condition can lead to permanent nerve damage, so be sure to follow your doctor’s instructions. Self-care tips for piriformis syndrome include the following: ...

127

Aortoduodenal syndrome.  

PubMed

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

Takagi, H; Watanabe, T; Umemoto, T

2014-09-12

128

Cushing's Syndrome  

MedlinePLUS

... Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on ...

129

Cushing syndrome  

MedlinePLUS

... Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 15. Susmeeta TS, Nieman LK. Cushing's syndrome: all variants, detection, and treatment. Endocrinol Metab Clin ...

130

Bartter syndrome  

MedlinePLUS

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

131

Aicardi syndrome  

MedlinePLUS

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

132

Marfan Syndrome  

MedlinePLUS

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

133

Metabolic Syndrome  

MedlinePLUS

... to manage your condition. Medications can also treat risk factors such as high blood pressure or high blood glucose. If you think you have risk factors for the metabolic syndrome, talk with your doctor. ...

134

Gardner Syndrome  

MedlinePLUS

... syndrome also have a higher risk of developing colorectal cancer and other FAP-related cancers . Other features of ... person with multiple adenomatous colon polyps and/or colorectal cancer along with some of the benign tumors listed ...

135

[Ogilvie's syndrome].  

PubMed

"Ogilvie's syndrome" or the idiopathic dilatation of the colon is an infrequent pathology whose underlying physiopathology is not yet well known. On the basis of their experience and having reviewed the literature, the authors affirm that this syndrome is caused by the inhibition of gastrointestinal hormones which, under the control of the neurohypophysis, contribute to colon motility. This supposition is backed up by the fact that medical treatment with somatostatin or octreotide leads to the resolution of the disorder. PMID:9676186

Vadalà, G; Santonocito, G; Mangiameli, A; Castorina, R; Caragliano, L; Caragliano, P

1998-05-01

136

Cardiometabolic Syndrome  

Microsoft Academic Search

\\u000a Cardiometabolic syndrome is a common condition that is increasing in prevalence in the USA and developing nations. Epidemiological\\u000a studies indicate a strong association between cardiometabolic syndrome and subsequent risks for diabetes and cardiovascular\\u000a events. Accumulating evidence suggests it may also be a risk factor for incident chronic kidney disease (CKD) and cardiovascular\\u000a events in individuals with pre-existing CKD. In studies

Manjula Kurella Tamura; Tara I. Chang

137

Turner Syndrome  

Microsoft Academic Search

\\u000a Turner syndrome (TS) or monosomy X, is the most common cause of hypergonadotropic hypogonadism in girls and young women. This\\u000a chapter reviews the prevalence and different presentations of the syndrome and explains its chromosomal origins. The interpretation\\u000a of chromosomal studies in diagnosis of and prognosis for TS, including prenatal testing, is reviewed. The most recent data\\u000a on the TS phenotypic

Carolyn A. Bondy

138

[Edwards' syndrome].  

PubMed

Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type. PMID:455513

Zuntová, A; Goetz, P; Macek, M; Karpenko, A

1979-05-01

139

Noonan syndrome  

PubMed Central

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

2014-01-01

140

Sensitive Periods  

PubMed Central

This chapter reviews sensitive periods in human brain development based on the literature on children raised in institutions. Sensitive experiences occur when experiences are uniquely influential for the development of neural circuitry. Because in humans, we make inferences about sensitive periods from evaluations of complex behaviors, we underestimate the occurrence of sensitive periods at the level of neural circuitry. Although we are most interested in complex behaviors, such as IQ or attachment or externalizing problems, many different sensitive periods at the level of circuits probably underlie these complex behaviors. Results from a number of studies suggest that across most, but not all, domains of development, institutional rearing limited to the first 4–6 months of life is associated with no significant increase risk for long-term adverse effects relative to non-institutionalized children. Beyond that, evidence for sensitive periods is less compelling, meaning that “the earlier the better” rule for enhanced caregiving is a reasonable conclusion at the current state of the science. PMID:25125708

Zeanah, Charles H.; Gunnar, Megan R.; McCall, Robert B.; Kreppner, Jana M.; Fox, Nathan A.

2010-01-01

141

Central Pain Syndrome  

MedlinePLUS

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

142

Tics and Tourette Syndrome  

MedlinePLUS

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

143

Androgen insensitivity syndrome  

MedlinePLUS

... of the penis Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology . 11th ed. St. Louis, Mo: ...

144

Hantavirus Pulmonary Syndrome  

MedlinePLUS

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

145

Marfan syndrome masked by Down syndrome?  

Microsoft Academic Search

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare.\\u000a We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly\\u000a few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic\\u000a expression of Marfan syndrome

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

2009-01-01

146

Periodic Table  

NSDL National Science Digital Library

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

2010-01-01

147

Obstetric antiphospholipid syndrome.  

PubMed

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 group to another largely due to different inclusion criteria and lack of standardization of antibody detection methods. Treatment is still controversial. This topic should include a multidisciplinary team and should be individualized. Success here is based on strict control and monitoring throughout pregnancy and even in the preconception and postpartum periods. Further research in this field and unification of criteria are required to yield better therapeutic strategies in the future. PMID:22001418

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

2012-02-01

148

IL-1 Blockade in Autoinflammatory Syndromes1  

PubMed Central

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

Jesus, Adriana A.; Goldbach-Mansky, Raphaela

2014-01-01

149

[Pregnancy and antiphospholipid syndrome].  

PubMed

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

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

2012-04-01

150

Periodic Fever  

Microsoft Academic Search

A 4-year-old adopted boy of mixed African American and Caucasian race was referred for consultation because of recurring fever.\\u000a Before the age of 1 year, he had begun to have monthly febrile illnesses without diagnoses. By 2 years of age, febrile episodes\\u000a were periodic, occurring approximately once in a month and had a characteristic pattern of sudden rise in temperature

Sarah S. Long

151

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

ERIC Educational Resources Information Center

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

Acharya, Kruti

2011-01-01

152

Proteus syndrome.  

PubMed

Proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry of the skull, body, arms, and the legs. The name "Proteus" of the Greek god who had the ability to change his shape was coined to define the variety of deformities including partial gigantism of the hands or feet, asymmetry of the arms and legs, hypertrophy of long bones, plantar hyperplasia, haemangiomas, lipomas, varicosities, linear verrucous epidermal naevi, macrocephaly, and cranial hyperostoses. The basic defect seems to be the focal overgrowth of cellular elements in skin, bone, and other connective tissues. The variable features of the syndrome make differential diagnosis challenging for clinicians. The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic and incompletely delineated syndrome, the patients must be followed up because of the possible risk of neoplasms. PMID:14649692

Bilkay, Ufuk; Tokat, Cenk; Ozek, Cuneyt; Gundogan, Hakan; Erdem, Ozgur; Gurler, Tahir; Cagdas, Arman

2003-01-01

153

Apert's Syndrome  

PubMed Central

ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

2014-01-01

154

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. PMID:21286212

McCullough, Peter A; Ahmad, Aftab

2011-01-01

155

Flammer syndrome  

PubMed Central

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

2014-01-01

156

Flammer syndrome.  

PubMed

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

Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

2014-01-01

157

An infrared supershell surrounding the Cygnus OB1 association  

NASA Technical Reports Server (NTRS)

New studies are reported of a large, 2 x 5 deg peanut-shaped cavity in the far-infrared emission seen using IRAS data for the Cygnus X region. A more complete and better defined infrared supershell than reported by Lozinskaya and Repin (1990) is found and connected to the Cyg OB1 association. It is shown that the cavity represents the early stages of a superbubble produced by the winds and possible SNe from 10 to 20 massive stars. The locations and properties of these stars are used to estimate the energy deposition rate and to understand the manner in which supershells form and propagate. In Cyg OB1, spatially distributed subclustering appears to have played an important role in determining the nonspherical morphology of the superbubble.

Saken, Jon M.; Shull, J. M.; Garmany, Catharine D.; Nichols-Bohlin, Joy; Fesen, Robert A.

1992-01-01

158

Cardiohepatic Syndrome.  

PubMed

Accumulating evidence shows that acute as well as chronic heart disease can directly contribute to an acute or chronic worsening of liver function and vice versa. Description and definition of cardiohepatic syndrome (CHS) in this review are based on the cardiorenal syndrome (CRS) concept. The eye-catching analogy between CHS and CRS is applied to facilitate an understanding of the pathophysiology and overall burden of disease for each of the proposed CHS subtypes, their natural course, and associated morbidity and mortality. PMID:25391350

Poelzl, Gerhard; Auer, Johann

2014-11-13

159

Piriformis syndrome.  

PubMed

The author presents a case of a female runner with left buttock pain aggravated by exercise. She underwent extensive testing by other physicians and received cortisone injections on two occasions. The patient was referred to the podiatry department because of continued discomfort and the inability to run. Examination revealed pain on hip flexion and abduction against resistance. Because of the possibility of piriformis syndrome, she started stretching exercises, reduced her activity, and the pain disappeared. The diagnosis of piriformis syndrome was confirmed by a general surgeon. PMID:2724111

Julsrud, M E

1989-03-01

160

Eagle syndrome.  

PubMed

Eagle syndrome, also known as elongated styloid process, is a condition first described by Watt Eagle in 1937. It occurs when an elongated styloid process or calcified stylohyoid ligament causes recurrent throat pain or foreign body sensation, dysphagia, or facial pain. Additional symptoms may include neck or throat pain with radiation to the ipsilateral ear. It is usually hard to diagnose because the symptoms related to this condition can be confused with those attributed to a wide variety of facial neuralgias. In this article, a case of Eagle syndrome exhibiting unilateral symptoms with bilateral elongation of styloid process is reported. PMID:24406612

Ferreira, Pedro Costa; Mendanha, Mário; Frada, Tiago; Carvalho, Jorge; Silva, Alvaro; Amarante, José

2014-01-01

161

Prescribing patterns in premenstrual syndrome  

PubMed Central

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

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

2002-01-01

162

Asperger Syndrome  

MedlinePLUS

... Organizations Column1 Column2 MAAP Services for Autism, Asperger Syndrome, and PDD P.O. Box 524 Crown Point, IN 46308 info@aspergersyndrome.org http://www.aspergersyndrome.org/ Tel: 219-662-1311 Fax: 219-662-1315 Autism Science Foundation 29 West 39th Street Suite 502 New York, NY 10018 ...

163

Klinefelter Syndrome  

MedlinePLUS

... testosterone. That doesn't make a guy less male, but it can affect things like penis and testicle growth. Boys with Klinefelter syndrome may ... bigger muscles, a deeper voice, growth of the penis, and facial and body ... or reverse infertility. Physical therapy, occupational therapy, and ...

164

[SAPHO syndrome].  

PubMed

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

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

2014-10-01

165

Metabolic Syndrome  

MedlinePLUS

... Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you eat into glucose (a form of sugar). Insulin is a hormone produced by the pancreas that allows ... as insulin resistance. If you have insulin resistance, your body will ...

166

[Locomotive syndrome and metabolic syndrome].  

PubMed

The Japanese Orthopedic Association coined the term locomotive syndrome (LS) to designate a condition of elderly people in high risk groups of requiring nursing care because of problems with their musculoskeletal diseases. LS is a socioeconomic concept, and closely associated with osteoporosis, osteoarthritis, and sarcopenia. Recent studies have revealed that metabolic syndrome (MS), a clustering of cardiovascular risk factors, has been related with LS. For example, individuals with MS have a greater risk of osteoarthritis and sarcopenia. Secreted factors from adipose tissue and skeletal muscles, namely, adipokines and myokines, are involved in the association of LS and MS. PMID:25509811

Fukushi, Jun-ichi; Iwamoto, Yukihide

2014-10-01

167

Your First Period  

MedlinePLUS

... a long time has been linked to toxic shock syndrome . When your flow is heavier, you may ... testes that can fertilize a female egg. Toxic Shock Syndrome: A severe illness caused by a bacterial ...

168

Cerebro-costo-mandibular Syndrome  

PubMed Central

Three sibs with a hitherto unreported syndrome are described, the main features being mental handicap, palatal defects, micrognathia, and severe costovertebral defects, involving segmentation of most ribs and fusion of their dorsal ends to the vertebral bodies. In addition one infant had hypoplasia of an elbow together with defects of sacrum and coccyx; she and one other sib had minor dental defects. The syndrome is potentially lethal in the neonatal period; one of the sibs has survived. The inheritance is probably autosomal recessive. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:5427859

McNicholl, B.; Egan-Mitchell, B.; Murray, J. P.; Doyle, J. F.; Kennedy, J. D.; Crome, L.

1970-01-01

169

[Casual diagnosis of Gitelman's syndrome].  

PubMed

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

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

2014-10-01

170

[Soluble brain proteins in autosomal trisomy syndromes].  

PubMed

The authors examined the soluble proteins of the brain frontal lobes in the newborn with trisomias of the 13th, 18th, and 21st chromosomes (Down's, Patau's, and Edwards' syndromes). The examinations were carried out on autopsy material (the post-mortem period not exceeding 24 hours) by the method of disc electrophoresis in polyacrylamide gel. The brain tissue was taken from 17 newborn infants with Down's syndrome; 9 infants with Patau's syndrome; and 7 infants with Edwards' syndrome. For the control the brain of 21 newborn infants without defects of the CNS development (the death cause being analogous) was taken. In all the syndromes studied diversely directed but relatively specific shifts were revealed on the proteinograms. It was the albumin section which appeared to be the most sensitive to the chromosomal pathology: in cases of Down's and Patau's syndromes the protein content in it was reduced, whereas in cases of Edwards' syndrome it was increased. In the latter syndrome the relative amount of neuronines S-5 and S-6, and in Patau's syndrome the amount of neuronine S-6 were lowered, this lowering being statistically significantly. In all the trisomias a tendency to a diminution of the zone of the acidic neurospecific cerebral proteins was noted. This is, possibly, due to the lower level of the CNS functional activity in chromosomal pathologies. PMID:6458983

Mikhneva, L M; Baryshevskaia, V D

1981-01-01

171

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

172

Syndrome in question. MAGIC syndrome.  

PubMed

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

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

2014-01-01

173

Imaging manifestations of a dreaded obstetric complication in the immediate postpartum period.  

PubMed

HELLP (hemolysis, elevated liver enzymes, low platelet) syndrome is a dreaded complication that may develop during pregnancy or in the immediate postpartum period. Rarely this syndrome manifests itself with imaging findings. We report a case of HELLP syndrome in which the diagnosis was reaffirmed via imaging findings. PMID:24688204

Levine, Harold; Zarghouni, Mehrzad; Cannon, Walter

2014-04-01

174

Dravet syndrome  

PubMed Central

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB). DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+). PMID:19737414

Incorpora, Gemma

2009-01-01

175

Overtraining Syndrome  

PubMed Central

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

Kreher, Jeffrey B.; Schwartz, Jennifer B.

2012-01-01

176

Brugada syndrome.  

PubMed

As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously or after provocation with sodium channel-blocking agents. Risk stratification and the need for treatment depend on the patient's symptoms, electrocardiography, family history, and electrophysiological inducibility to discern if treatment by implantable cardioverter defibrillator, the only effective treatment to date, is appropriate. This review focuses on Brugada syndrome and various aspects of the disease including proposed mechanisms, epidemiology, clinical presentations, genetics, diagnosis, risk stratification, and treatment options. PMID:23535677

Jellins, Jessica; Milanovic, Mitchell; Taitz, David-Joel; Wan, S H; Yam, P W

2013-04-01

177

Broken Heart Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What is Broken Heart Syndrome Broken heart syndrome is a condition in ... disorder and how to diagnose and treat it. Broken Heart Syndrome Versus Heart Attack Symptoms of broken heart ...

178

Tourette Syndrome (For Parents)  

MedlinePLUS

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

179

Respiratory Distress Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Respiratory Distress Syndrome? Respiratory distress syndrome (RDS) is a breathing disorder that ... damage. Rate This Content: Next >> January 24, 2012 Respiratory Distress Syndrome Clinical Trials Clinical trials are research ...

180

Polycystic Ovary Syndrome  

MedlinePLUS

... condition called polycystic ovary sydrome (PCOS) . What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ... having PCOS later on. Back Continue How Is Polycystic Ovary Syndrome Diagnosed? If you've taken your concerns about ...

181

Anesthesia & Down Syndrome  

MedlinePLUS

... disorders (such as celiac disease and hypothyroidism), diabetes, dementia, depression, epilepsy, hypotonia, obesity and osteoporosis. Some of ... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ...

182

Heart and Down Syndrome  

MedlinePLUS

... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ... End of Life Considerations Emotional & Psychiatric Well-Being Alzheimer's Disease An Introduction to Alzheimer's Disease A Caregiver's Guide ...

183

Fragile X Syndrome  

MedlinePLUS

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

184

Genetic obesity syndromes.  

PubMed

There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

Goldstone, Anthony P; Beales, Philip L

2008-01-01

185

[Lemierre's syndrome].  

PubMed

Lemierre's syndrome is a rare disease, mostly affecting young adults in good health, which can lead to significant morbidity and mortality. We report one case with favourable outcome and clinical features stereotypics: angina, septic thrombosis of the internal jugular vein, pulmonary septic metastasis, Fusobacterium necrophorum on blood cultures. Antibiotic therapy targeting anaerobes has been rapidly initiated and maintained 4-6 weeks. The anticoagulation has been maintained 4 weeks. PMID:21035996

Courtin, P; Toro, A; Gazagnes, M; Berrouba, A; Gallardo, M; Dembele, A

2010-11-01

186

[Eagle's Syndrome].  

PubMed

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

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes

2013-01-01

187

Proteus Syndrome  

Microsoft Academic Search

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

Martino Ruggieri; Ignacio Pascual-Castroviejo

188

Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans  

Microsoft Academic Search

Synthesis of glycosaminoglycans (GAGS) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between

Valery Kukharenko; Svetlana Sheleg; Mikhail Freudine; Elena Pichugina; Alexander Delvig

1994-01-01

189

The Orion OB1 Association I. Stellar content  

E-print Network

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

A. G. A. Brown; E. J. de Geus; P. T. de Zeeuw

1994-03-23

190

Brugada Syndrome  

PubMed Central

First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

ANTZELEVITCH, CHARLES

2007-01-01

191

Gitelman syndrome.  

PubMed

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

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

2013-01-01

192

Nutcracker syndrome.  

PubMed

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-11-01

193

[Crush syndrome].  

PubMed

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

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

2007-08-01

194

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. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

Weller, R.E.

1986-10-01

195

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.  

PubMed

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

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

2013-01-01

196

Caveolin-1 Associated Adenovirus Entry into Human Corneal Cells  

PubMed Central

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

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

2013-01-01

197

HLA-DRB1 association with Henoch-Schonlein purpura.  

PubMed

Objective: Henoch-Schönlein purpura (HSP) is the most common vasculitis in children but it is not exceptional in adults. Increased familial occurrence supports a genetic predisposition for HSP. In this context, an association with the human leukocyte antigen-HLA-DRB1*01 phenotype has been suggested in Caucasian individuals with HSP. However, data on the potential association of HSP with HLA-DRB1*01 were based on small case series. To further investigate this issue, we performed HLA-DRB1 genotyping of the largest series of HSP patients ever assessed for genetic studies in Caucasians. Methods: 342 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al classification criteria, and 303 sex and ethnically matched controls were assessed. HLA-DRB1 alleles were determined using a PCR-Sequence-Specific-Oligonucleotide Probe (PCR-SSOP) method. Results: A statistically significant increase of HLA-DRB1*01 in HSP patients when compared with controls was found (43% vs 7%, respectively; p<0.001; odds ratio-OR=2.03 [1.43-2.87]). It was due to the increased frequency of HLA-DRB1*0103 phenotype in HSP (14% vs 2%; p<0.001; OR=8.27 [3.46-23.9]). These results remained statistically significant after adjusting for Bonferroni correction. In contrast, a statistically significant decreased frequency of the HLA-DRB1*0301 phenotype was observed in patients compared to controls (5.6% vs 18.1%, respectively; p<0.001, OR=0.26 [0.14-0.47]), even after adjustment for Bonferroni correction. No HLA-DRB1 association with specific features of the disease was found. Conclusion: Our study confirms an association of HSP with HLA-DRB1*01 in Caucasians. Also, a protective effect against the development of HSP appears to exist in Caucasians carrying the HLA-DRB1*03 phenotype. This article is protected by copyright. All rights reserved. PMID:25470797

López-Mejías, Raquel; Genre, Fernanda; Pérez, Belén Sevilla; Castañeda, Santos; Ortego-Centeno, Norberto; Llorca, Javier; Ubilla, Begoña; Remuzgo-Martínez, Sara; Mijares, Verónica; Pina, Trinitario; Calvo-Río, Vanesa; Márquez, Ana; Sala-Icardo, Luis; Miranda-Filloy, José A; Conde-Jaldón, Marta; Ortiz-Fernández, Lourdes; Rubio, Esteban; León Luque, Manuel; Blanco-Madrigal, Juan M; Galíndez-Aguirregoikoa, Eva; González-Vela, M Carmen; Ocejo-Vinyals, J Gonzalo; González Escribano, Francisca; Martín, Javier; Blanco, Ricardo; González-Gay, Miguel A

2014-12-01

198

Antiphospholipid syndrome  

PubMed Central

Antiphospholipid syndrome is diagnosed when arterial or venous thrombosis or recurrent miscarriages occur in a person in whom laboratory tests for antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant and/or anti-beta 2-glycoprotein I) are positive. Despite the strong association between antiphospho-lipid antibodies and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. Novel mechanisms involving both the complement pathway and micro-particles have been described. The knowledge of these new pathogenic approaches might identify novel therapeutic targets and therefore may improve the management of these patients. PMID:19090981

Espinosa, Gerard; Cervera, Ricard

2008-01-01

199

Alport's syndrome.  

PubMed Central

Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000. During the last six years several type IV collagen genes have been implicated in the aetiology of AS, and mutation detection studies are enabling genotype/phenotype correlations to be made, as well as facilitating carrier detection and prenatal diagnosis. Images PMID:9138159

Flinter, F

1997-01-01

200

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. PMID:23961498

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

2013-01-01

201

[SAPHO syndrome].  

PubMed

SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome is a rare entity characterized by the association of heterogeneous osteoarticular and cutaneous manifestations that have for common denominator an aseptic inflammatory process. The etiopathogeny of this disease is still a matter of debate. Although it has been related to the spondylarthritis family, an infectious origin is suggested. Diagnosis is based on the presence of at least one of the three diagnostic criteria proposed by Kahn. The treatment includes NSAIDs, antibiotics, corticosteroids, methotrexate and more recently the bisphosphonates and the TNF? inhibitors. PMID:24797142

Gharsallah, I; Souissi, A; Dhahri, R; Boussetta, N; Sayeh, S; Métoui, L; Ajili, F; Louzir, B; Othmani, S

2014-09-01

202

Griscelli syndrome.  

PubMed

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

2014-08-01

203

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. PMID:24187634

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

2013-01-01

204

Post-Polio Syndrome  

MedlinePLUS

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

205

Dandy-Walker Syndrome  

MedlinePLUS

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

206

Epidemiology of Turner syndrome  

Microsoft Academic Search

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

Claus Højbjerg Gravholt; Kirstine Stochholm

2008-01-01

207

Guillain-Barré Syndrome  

MedlinePLUS

NINDS Guillain-Barré Syndrome Information Page Condensed from Guillain-Barré Syndrome Fact Sheet Table of Contents (click to jump to ... Trials Organizations Additional resources from MedlinePlus What is Guillain-Barré Syndrome? Guillain-Barré syndrome is a disorder in ...

208

Lesch-Nyhan Syndrome  

MedlinePLUS

NINDS Lesch-Nyhan Syndrome Information Page Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is ... is being done? Clinical Trials Organizations What is Lesch-Nyhan Syndrome? Lesch-Nyhan syndrome (LNS) is a rare, ...

209

[Hyponatremic syndrome].  

PubMed

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

Urso, C; Caimi, G

2012-01-01

210

Addressing the Needs of Students with Rett Syndrome.  

ERIC Educational Resources Information Center

This article discusses symptoms of students with Rett Syndrome, a disability in females characterized by the development of multiple specific deficits following a period of normal functioning after birth. Specific interventions for students with Rett syndrome are provided and address communication, stereotypic movements, self-injurious behaviors,…

Katsiyannis, Antonis; Ellenburg, Jennifer S.; Acton, Olivia M.; Torrey, Gregory

2001-01-01

211

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

ERIC Educational Resources Information Center

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

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

2011-01-01

212

Perlman syndrome: report, prenatal findings and review.  

PubMed

Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal failure and refractory hypoxemia leading to death at 2 days of life. Renal histologic examination showed bilateral nephroblastomatosis. Genetic or epigenetic alterations of the 11p15 region (involved in the BWS), including mutation of the CDKN1C gene were excluded. No mutation of the GPC3 gene was identified. We review the 28 patients who have been reported with Perlman syndrome. The prognosis of Perlman syndrome is poor with a high neonatal mortality rate. Among the infants who survived beyond the neonatal period, 64% developed a WT and all had a developmental delay. Fetal macrosomia, ascites and polyhydramnios are frequent manifestations. Clinical overlaps with other overgrowth syndromes particularly Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome have been emphasized. Perlman syndrome is considered as an autosomal recessive condition. We review 19 patients from seven sibships with parental consanguinity in two families only. The other cases were sporadic. The 28 reported patients had only 10 unaffected sibs. The low percentage of consanguinity among parents is also puzzling for a rare recessive condition. The molecular basis of Perlman syndrome is unknown. (Epi)genetic anomalies of 11p15 and mutations in GPC3 were not studied in most of the previous reports. PMID:18780370

Alessandri, Jean-Luc; Cuillier, Fabrice; Ramful, Duksha; Ernould, Sandrine; Robin, Stéphanie; de Napoli-Cocci, Stefan; Rivière, Jean-Pierre; Rossignol, Sylvie

2008-10-01

213

Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans.  

PubMed

Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between postnatal aneuploid strains and controls. PMID:8034299

Kukharenko, V; Sheleg, S; Freudine, M; Pichugina, E; Delvig, A

1994-07-01

214

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour  

PubMed Central

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

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

2006-01-01

215

Noonan syndrome.  

PubMed

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

Turner, Anne M

2014-10-01

216

Nodding Syndrome  

PubMed Central

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

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

2013-01-01

217

Noonan syndrome  

PubMed Central

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

van der Burgt, Ineke

2007-01-01

218

The sinking bone syndrome?  

PubMed

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

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

2013-01-01

219

Periodic Tables: a compendium  

NSDL National Science Digital Library

This is a compendium of resources related to the periodic chart. From this site, one can surf a wide variety of presentations of the Periodic Chart of the Chemical Elements. Categories include: Periodic Tables with Basic nformation ; Periodic Table Tests; Periodic Table Link Lists; Periodic Table Games; Periodic Table Projects;Periodic Table News; Periodic Table Books; Software Downloads and much, much more. This site was last updated 11/02/2003.

220

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. PMID:22474647

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

2012-01-01

221

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. PMID:22570648

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

2012-01-01

222

Prenatal Tests for Down Syndrome  

MedlinePLUS

... syndrome is a common birth defect that includes mental retardation and—often—heart problems. Children with Down syndrome ... Down syndrome varies, all have some degree of mental retardation. What Causes Down Syndrome? The egg from the ...

223

Cogan and Behcet Syndromes.  

PubMed

Cogan and Behcet syndromes are considered large vessel vasculitides. Both are rare diseases, with varied clinical manifestations affecting multiple organ systems. Although both have hallmark symptoms (ocular and vestibuloauditory inflammation in Cogan syndrome and aphthous ulcers in Behcet syndrome), neither has confirmatory diagnostic testing. Delayed diagnosis can result in poor outcomes. In both syndromes, large vessel arterial inflammation may result in severe morbidity and mortality. Treatment strategies in both syndromes vary based on organ system involvement and severity of manifestations. In this article, the epidemiology, proposed pathogenesis, manifestations, and the most current treatment paradigms for these syndromes are reviewed. PMID:25399941

Singer, Ora

2015-01-01

224

Premenstrual syndrome  

PubMed Central

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

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

2011-01-01

225

Tourette's syndrome.  

PubMed

Tourette's syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports and preliminary controlled studies it is suggested that - at least in a subgroup of patients - cannabinoids are effective in the treatment of TS. While most patients report beneficial effects when smoking marijuana (Cannabis sativa L.), available clinical trials have been performed using oral ??-tetrahydrocannabinol (THC). In otherwise treatment-resistant TS patients, therefore, therapy with THC should not be left unattempted. To date, it is unknown whether other drugs that interact with the endocannabinoid receptor system might be more effective in the treatment of TS than smoked marijuana or pure THC. Since it has been suggested that abnormalities within the endocannabinoid receptor system might underlie TS pathophysiology, it would be of interest to investigate the effect of substances that for example bind more selectively to the central cannabinoid receptor or inhibit the uptake or the degradation of different endocannabinoids. PMID:21104394

Müller-Vahl, Kirsten R

2009-01-01

226

Kawasaki Syndrome  

PubMed Central

Kawasaki syndrome (KS) is an acute, sometimes fatal vasculitis of young children. KS has replaced acute rheumatic fever as the most common cause of acquired heart disease in children in the United States. The illness is manifested by prolonged fever, conjunctival injection, enanthem, exanthem, erythema and swelling of the hands and feet, and cervical adenopathy. These acute features of illness are self-limiting, but coronary artery abnormalities occur in 20% of untreated patients. The etiology of the illness is unknown, but its clinical and epidemiologic features are most consistent with an infectious cause. Common cardiovascular manifestations of the illness include myocarditis, pericardial effusion, and coronary artery aneurysm formation. Treatment with intravenous gamma globulin (IVGG) and aspirin within the first 10 days of illness reduces the prevalence of coronary artery abnormalities from 20% in those treated with aspirin alone to 4%. Patients who develop coronary artery aneurysms, particularly those who develop giant coronary artery aneurysms, may suffer myocardial infarction secondary to thrombosis or stenosis in the abnormal vessel. Additional research to determine the cause of KS is urgently needed to allow for improved diagnosis, more specific therapy, and prevention of the disorder. PMID:9665974

Rowley, Anne H.; Shulman, Stanford T.

1998-01-01

227

Asherman's syndrome.  

PubMed

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

March, Charles M

2011-03-01

228

Pierre Robin syndrome  

MedlinePLUS

Pierre Robin sequence; Pierre Robin complex; Pierre Robin anomaly ... The exact causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly before birth, but may ...

229

Treacher Collins Syndrome  

MedlinePLUS

... of this factsheet, click here What is Treacher Collins Syndrome? Treacher Collins syndrome is the name given to a birth ... affected individual to another. A physician named Treacher Collins was one of the first to describe this ...

230

Tourette Syndrome Association  

MedlinePLUS

... recommends that care and treatment decisions related to Tourette Syndrome and any other medical condition be made ... Return to the TSA Home Page ©2007-2015 Tourette Syndrome Association, Inc. / 42-40 Bell Boulevard / Bayside ...

231

[Postpneumonectomy syndrome in adulthood].  

PubMed

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

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

2005-01-01

232

What Is Marfan Syndrome?  

MedlinePLUS

... on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

233

What Causes Down Syndrome?  

MedlinePLUS

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

234

Restless legs syndrome  

MedlinePLUS

... and restless legs syndrome: a systematic review and meta-analysis. Eur J Neurol. 2013;20:605-615. Wilt ... primary restless legs syndrome: a systematic review and meta-analysis. JAMA Internal Med. 2013;173:496-505.

235

Cardiopulmonary Syndromes (PDQ®)  

Cancer.gov

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

236

Ovarian hyperstimulation syndrome  

MedlinePLUS

Ovarian hyperstimulation syndrome (OHSS) is a problem that is sometimes seen in women who take fertility medicines ... the belly and chest area. This is called ovarian hyperstimulation syndrome (OHSS). OHSS occurs only after the ...

237

Diabetic hyperglycemic hyperosmolar syndrome  

MedlinePLUS

Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of type 2 diabetes . It involves extremely high blood ... Diabetic hyperglycemic hyperosmolar syndrome is a condition of: Extremely high blood sugar (glucose) level Extreme lack of ...

238

Hantavirus Pulmonary Syndrome (HPS)  

MedlinePLUS

... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

239

Hantavirus Pulmonary Syndrome  

MedlinePLUS

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

240

Riley-Day syndrome  

MedlinePLUS

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

241

Dubin-Johnson syndrome  

MedlinePLUS

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

242

Prune belly syndrome  

MedlinePLUS

Prune belly syndrome is a group of birth defects that involve three main problems: Poor development of the abdominal ... The causes of prune belly syndrome are unknown. The condition ... womb, the developing baby's abdomen swells with fluid, often ...

243

Fetal alcohol syndrome  

MedlinePLUS

Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks ... is at risk for having a child with fetal alcohol syndrome. There is no "safe" level of alcohol use ...

244

Lesch-Nyhan syndrome  

MedlinePLUS

Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body ... Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait . It occurs mostly in ...

245

Autoimmune polyglandular syndromes  

Microsoft Academic Search

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

Peter A. Gottlieb; Aaron W. Michels

2010-01-01

246

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

ERIC Educational Resources Information Center

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

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

2012-01-01

247

PFAPA syndrome mimicking familial Mediterranean fever: report of a Turkish child  

Microsoft Academic Search

The PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitidis) syndrome is characterized by periodic fever, adenitis, pharyngitis, and aphthous stomatitis. Herein, we present a Turkish child with PFAPA syndrome mimicking familial Mediterranean fever because of a rare presentation. A 9-year-old boy was admitted with recurrent fever, aphthous stomatitis, sore throat, headache, and general body pains, lasting 2 to 3 days since

Bülent Ata?; Hüseyin Çaksen; ?ükrü Arslan; O?uz Tuncer; Ercan K?r?mi; Dursun Odaba?

2003-01-01

248

Large vestibular aqueduct syndrome.  

PubMed

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

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

2005-10-01

249

Families and Fragile Syndrome  

E-print Network

Families and Fragile Syndrome U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES PUBLIC HEALTH Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency is designed to give you and your family some general information about Fragile X syndrome, its causes, its

Rau, Don C.

250

Learning about Turner Syndrome  

MedlinePLUS

... hormone replacement therapy. Top of page How is Turner syndrome diagnosed? A diagnosis of Turner syndrome may be suspected when there are a number ... slow growth rate and other features are identified. Diagnosis sometimes takes place later ... syndrome may be suspected in pregnancy during an ultrasound ...

251

Morbidity in Turner Syndrome  

Microsoft Academic Search

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

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

1998-01-01

252

Guillain-Barré Syndrome  

MedlinePLUS

... Body Works Main Page The Pink Locker Society Guillain-Barré Syndrome KidsHealth > Kids > Health Problems > Bones, Muscles & Joints > ... Is GBS Treated? Recovering From GBS What Is Guillain-Barré Syndrome? Guillain-Barré syndrome (say: GHEE-yan bah- ...

253

[Morning glory syndrome].  

PubMed

In 1970, Kindier described the morning glory syndrome. This syndrome is a congenital abnormality of the optic nerve with unilateral presence and very low incidence. It is characterized by an enlarged optical disc, deep excavation, presence of traces of radial glia, and arrangement of retinal vascularization. This report describes the fundoscopic image in a patient with morning glory syndrome. PMID:21412399

López-Lizárraga, Erika Paulina; Bolaños-Jiménez, Rodrigo; Treviño-Alanís, M Guadalupe; Rivera-Silva, Gerardo

2011-01-01

254

Turner Syndrome (For Parents)  

MedlinePLUS

... shorter than average and infertile due to early loss of ovarian function. About Turner Syndrome Turner syndrome (TS) was first described in 1938 ... requiring spatial skills, such as map reading or visual organization. ... in girls with Turner syndrome. Although they aren't at increased risk for ...

255

Fragile X syndrome  

MedlinePLUS

Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

256

CONSTIPATION IN RETT SYNDROME  

Technology Transfer Automated Retrieval System (TEKTRAN)

Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

257

Fibromyalgia syndrome.  

PubMed

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

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

2007-06-01

258

[Endocrinopathies during the postpartum period. Management.  

PubMed

The various endocrinopathies that may occur during the postpartum period are described. The most important and common is gestational and pre-gestational diabetes, but other less common, and also very important ones, are mentioned such as hypopituitarism (Sheehan's syndrome and lymphocytic hypophysitis) and thyroid disorders, pre-existing (hyperthyroidism and hypothyroidism), or postpartum onset (postpartum thyroiditis and Graves' disease). After describing their characteristics, the emphasis is placed on the proper management of these endocrine diseases, some of them which exclusively appear during the postpartum period. PMID:24837528

Gallo-Vallejo, J L; Gallo-Vallejo, F J

2014-05-13

259

Barth syndrome  

PubMed Central

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

2013-01-01

260

A Rare Variant of Wallenberg's Syndrome: Opalski syndrome.  

PubMed

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg's syndrome which did not have all the classical components of the syndrome, like Horner's syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

Kk, Parathan; R, Kannan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-07-01

261

[Syndrome of Muckle-Wells and autoinflammatory familiar syndrome induced by cold].  

PubMed

Familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS) belong to the cryopyrin-associated periodic syndromes (CAPS) with CIAS1 gene mutations as a common molecular basis. Patients with FCAS have the least severe clinical phenotype but are characterized by the development of symptoms induced by a generalized exposure to cold appearing during the first months of childhood. It is important to make differential diagnosis between FCAS and acquired cold urticaria (ACU) and familial atypical cold urticaria (FACU). Muckle-Wells syndrome is characterized by recurrent fever and urticarial rash, progressive sensorineural deafness and the development of secondary amyloidosis, but it is not considered the most severe disease of this group. Sensorineural deafness and amyloidosis are the two major complications of MWS and determine poor prognosis of the disease. PMID:21596182

Calvo Penadés, Inmaculada; López Montesinos, Berta; Marco Puche, Ana

2011-01-01

262

Familial Periodic Paralyses  

MedlinePLUS

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

263

So Many Periodic Tables!  

NSDL National Science Digital Library

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

Suggs, Mrs.

2007-11-30

264

Polycystic Ovary Syndrome and Metabolic Syndrome  

Microsoft Academic Search

The polycystic ovary syndrome (PCOS) is a very common disorder with important short-term and long-term consequences. Indeed,\\u000a affected women manifest many clinical and biochemical features of metabolic syndrome, putting them at increased risk for diabetes\\u000a and cardiovascular diseases. In the past 15 years, the key role of insulin resistance (IR) in the pathogenesis of PCOS has\\u000a been stressed, and this

Marie-Hélène Pesant; Jean-Patrice Baillargeon

265

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

Microsoft Academic Search

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

Nicolay Chertkoff Walz; Betsey A. Benson

2002-01-01

266

Intraocular Lens Subluxation in Marfan Syndrome  

PubMed Central

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

Rodrigo, Bolaños-Jiménez; Paulina, López-Lizárraga E; Francesc, March de R; Eduardo, Telich-Tarriba J; Alejandro, Navas

2014-01-01

267

Metabolic Syndrome and Migraine  

PubMed Central

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

Sachdev, Amit; Marmura, Michael J.

2012-01-01

268

[Menopause and metabolic syndrome].  

PubMed

The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome. PMID:24830585

Meirelles, Ricardo M R

2014-03-01

269

Genetics Home Reference: Tourette syndrome  

MedlinePLUS

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

270

Gilles de la Tourette syndrome  

MedlinePLUS

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

271

Genetics Home Reference: Roberts syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Roberts syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed January 2009 What is Roberts syndrome? Roberts syndrome is a genetic disorder characterized ...

272

Genetics Home Reference: Down syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Down syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed June 2012 What is Down syndrome? Down syndrome is a chromosomal condition that is ...

273

Down Syndrome and Alzheimer's Disease  

MedlinePLUS

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

274

Osler-Weber-Rendu syndrome  

MedlinePLUS

... Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding. ... Osler-Weber-Rendu syndrome is a condition passed down through ... syndrome, but it involves proper development of blood vessels.

275

Lambert-Eaton Myasthenic Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Lambert-Eaton Myasthenic Syndrome Information Page Table of Contents ( ... is being done? Clinical Trials Organizations What is Lambert-Eaton Myasthenic Syndrome? Lambert-Eaton myasthenic syndrome (LEMS) ...

276

Inherited Bone Marrow Failure Syndromes  

MedlinePLUS

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

277

Irritable bowel syndrome  

PubMed Central

Introduction The prevalence of irritable bowel syndrome (IBS) varies depending on the criteria used to diagnose it, but it ranges from about 5% to 20%. IBS is associated with abnormal gastrointestinal motor function and enhanced visceral perception, as well as psychosocial and genetic factors. People with IBS often have other bodily and psychiatric symptoms, and have an increased likelihood of having unnecessary surgery compared with people without IBS. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments in people with IBS? We searched: Medline, Embase, The Cochrane Library, and other important databases up to August 2011 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 27 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: 5HT3 receptor antagonists (alosetron and ramosetron), 5HT4 receptor agonists (tegaserod), antidepressants (tricyclic antidepressants and selective serotonin reuptake inhibitors [SSRIs]), antispasmodics (including peppermint oil), cognitive behavioural therapy (CBT), hypnotherapy, loperamide, and soluble and insoluble fibre supplementation. PMID:22296841

2012-01-01

278

Complex regional pain syndrome.  

PubMed

Complex regional pain syndrome is a chronic pain syndrome that is often instigated by postoperative or post-traumatic events. The disease process can progress through three stages, the first of which tends to respond best to treatment. A review of the literature is presented, followed by a report of a patient who developed symptoms of complex regional pain syndrome following a water-skiing accident. PMID:10546427

Hernandez, W; Raja, A; Capuano, C

1999-10-01

279

Chromosome instability syndromes  

SciTech Connect

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

NONE

1993-12-31

280

Cushing's syndrome in pregnancy.  

PubMed

Abstract Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation. PMID:25430821

Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

2015-02-01

281

Critical periods for the effects of alcohol exposure on brain weight, body weight, activity and investigation  

Microsoft Academic Search

Using an animal model of fetal alcohol syndrome — which equates peak blood alcohol concentrations across different developmental periods — critical periods for the effect of alcohol on brain weight, activity and investigative behavior were examined. The periods of alcohol exposure were from gestational day (GD) 1 through 10, GD 11 through 22, postnatal day (PD) 2 through 10, or

Tuan D. Tran; Kim Cronise; Melissa D. Marino; William J. Jenkins; Sandra J. Kelly

2000-01-01

282

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

PubMed

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

Matyja, Ewa

2012-01-01

283

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

Microsoft Academic Search

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

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

1989-01-01

284

Catastrophic antiphospholipid syndrome: diagnosis and management in pregnancy.  

PubMed

Catastrophic antiphospholipid syndrome (CAPS) is a potentially lethal variant of antiphospholipid syndrome, characterized by multiorgan thrombosis in a short period of time, affecting mainly small vessels. In approximately 50% of CAPS cases, the catastrophic event is preceded by a trigger, mainly infections, or surgery, anticoagulation withdrawal, lupus flares, neoplasm, or pregnancy and puerperium. Treatment of CAPS is based on expert opinion and relies on a combination of several strategies, including anticoagulation, steroids, plasma exchange sessions, and/or intravenous immunoglobulins. PMID:23702126

Gómez-Puerta, Jose A; Espinosa, Gerard; Cervera, Ricard

2013-06-01

285

The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations The so-called Marshall-Smith syndrome  

Microsoft Academic Search

A new case of the syndrome of “accelerated skeletal maturation, facial dysmorphism, failure to thrive and psychomotor retardation” is presented. The syndrome was noted in the neonatal period. The diagnosis can be readily suggested by the radiologist because ossification centers show exceptionally early maturation. This case history increases to at least five the number of cases so far reported following

M. Hassan; T. Sutton; K. Mage; J. M. Limal; R. Rappaport

1976-01-01

286

Pulmonary hypoplasia in Jarcho-Levin syndrome.  

PubMed

Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We report the autopsy findings in a newborn with isolated Jarcho-Levin syndrome emphasizing pulmonary pathology. He was a pre-term male who died of respiratory failure at three hours old and, autopsy findings confirmed the clinical diagnosis. Internal examination showed hypoplastic lungs with normal lobation. The histological structure appeared normal and relatively mature; the diaphragm showed eventration and unilateral absence of musculature. This case shows the worst spectum of the Jarcho-Levin syndrome: pulmonary hypoplasia not compatible with extrauterine life. Since thoracic restriction is present during the fetal period, the degree of pulmonary hypoplasia probably defines survival beyond the neonatal period. PMID:15125221

Rodríguez, Luis M; García-García, Inés; Correa-Rivas, María S; García-Fragoso, Lourdes

2004-03-01

287

Periodic Screening Evaluation  

Cancer.gov

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

288

Time-periodic universes  

E-print Network

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

De-Xing Kong; Kefeng Liu; Ming Shen

2008-08-30

289

The Periodic Pyramid  

ERIC Educational Resources Information Center

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

Hennigan, Jennifer N.; Grubbs, W. Tandy

2013-01-01

290

Polycystic Ovary Syndrome  

MedlinePLUS

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

291

Autoimmune polyendocrine syndromes.  

PubMed

Autoimmune polyendocrine syndromes (APS), also called polyglandular autoimmune syndromes (PGAS), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected. The two major autoimmune polyendocrine syndromes, (type1-type2/APS-1 and APS-2), both have Addison's disease as a prominent component. Further autoimmune polyendocrine syndromes include APS3 and APS4. The major autoimmune polyendocrine syndromes have a strong genetic component with the type 2 syndrome occurring in multiple generations and the type I syndrome in siblings. It is well recognized that more than 20years may elapse between the onset on one endocrinopathy and the diagnosis of the next, for example, almost 40-50% of subjects with Addison's disease will develop an associated endocrinopathy. The discovery of the polyendocrine autoimmune syndromes offered the possibility to understand autoimmune disorders with particular interest for type 1A diabetes and the neuroendocrine immunology (NEI) is further contributing to understand the links. PMID:24055063

Cutolo, Maurizio

2014-02-01

292

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

2010-01-01

293

The SAHA Syndrome  

Microsoft Academic Search

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

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

2000-01-01

294

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.

1991-01-01

295

Plummer-Vinson syndrome.  

PubMed

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. PMID:16978405

Novacek, Gottfried

2006-01-01

296

Plummer-Vinson syndrome  

MedlinePLUS

Plummer-Vinson syndrome is a condition that can occurs in people with long-term (chronic) iron deficiency anemia . People ... The cause of Plummer-Vinson syndrome is unknown. Genetic factors ... nutrients (nutritional deficiencies) may play a role. It is a ...

297

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. PMID:16978405

Novacek, Gottfried

2006-01-01

298

Van der Woude syndrome.  

PubMed

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial syndrome with variable expression characterised by congenital pits and sinuses in the lower lip together with cleft lip, or palate, or both. We report a case of VWS, which occurred as a new mutation, and review previous reports. PMID:12038200

Guner, Ulvi; Celik, Naci; Ozek, Cuneyt; Cagdas, Arman

2002-01-01

299

White-Nose Syndrome  

NSDL National Science Digital Library

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

Douglas Stemke (University of Indianapolis ;)

2011-04-28

300

Prader-Willi syndrome  

Microsoft Academic Search

Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of

S B Cassidy

1997-01-01

301

PLANT DEFENSE SYNDROMES  

Microsoft Academic Search

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

Anurag A. Agrawal; Mark Fishbein

2006-01-01

302

Sirenomelia: the mermaid syndrome  

Microsoft Academic Search

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

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

1996-01-01

303

The sick building syndrome  

PubMed Central

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

Joshi, Sumedha M.

2008-01-01

304

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 PMID:422966

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

1979-01-01

305

Synchronous moyamoya syndrome and ruptured cerebral aneurysm in Alagille syndrome  

Microsoft Academic Search

Moyamoya syndrome and cerebral aneurysm formation are rare cerebrovascular manifestations of Alagille syndrome. Although previously reported in isolation, occurrence of these complications in a single patient has not been described. We report clinical and imaging features of synchronous moyamoya syndrome and ruptured cerebral aneurysm in a patient with Alagille syndrome.

Ron C. Gaba; Rajesh P. Shah; Andrew A. Muskovitz; Grace Guzman; Edward A. Michals

2008-01-01

306

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

PubMed Central

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

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

1991-01-01

307

Heterogeneity in Waardenburg syndrome.  

PubMed Central

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

Hageman, M J; Delleman, J W

1977-01-01

308

Assessing the catastrophic break up of Briksdalsbreen, Norway,1 associated with rapid climate change.2  

E-print Network

retreat of Greenland's tidewater glaciers.32 33 Introduction34 The response of glaciers to climate change about the potential influence of rapid climate change13 on the stability of major ice sheets1 Assessing the catastrophic break up of Briksdalsbreen, Norway,1 associated with rapid climate

Southampton, University of

309

Expression of steroid hormone receptors in BRCA1-associated ovarian carcinomas  

Microsoft Academic Search

ObjectiveBRCA1 mutations predispose to cancer in hormone responsive tissues. A predominance of estrogen receptor (ER)-negative breast cancers in BRCA1 mutation carriers and potential interactions between ER? and BRCA1 suggest a link between hormones and BRCA1. However, the expression pattern of ER? and other hormone receptors in BRCA1-associated ovarian cancer was unknown.

Morteza Aghmesheh; Lyndal Edwards; Christine L. Clarke; Karen Byth; Benita S. Katzenellenbogen; Pamela J. Russell; Michael Friedlander; Katherine M. Tucker; Anna de Fazio

2005-01-01

310

Pulmonary-renal syndromes.  

PubMed

Pulmonary-renal syndromes or lung-kidney syndromes are clinical syndromes defined by a combination of diffuse alveolar haemorrhage (DAH) and glomerulonephritis. Pulmonary-renal syndromes are not a single entity, but are caused by a wide variety of diseases, including various forms of primary systemic vasculitis (especially Wegener's granulomatosis and microscopic polyangiitis), Goodpasture's syndrome (associated with autoantibodies to the alveolar and glomerular basement membrane) and systemic lupus erythematosus. The diagnosis rests on the identification of particular patterns of clinical, radiologic, pathologic and laboratory features. Serologic testing is important in the diagnostic work-up of patients presenting with a pulmonary-renal syndrome. The majority of cases of pulmonary-renal syndrome are associated with ANCAs, either c-ANCA or p-ANCA, due to autoantibodies against the target antigens proteinase-3 and myeloperoxidase respectively. The antigen target in Goodpasture's syndrome is type IV collagen, the major component of basement membranes. Diffuse alveolar haemorrhage is characterized by the presence of a haemorrhagic bronchoalveolar lavage (BAL) in serial BAL samples. In the clinical setting of an acute nephritis syndrome, percutaneous renal biopsy is commonly performed for histopathology and immunofluorescence studies. Treatment of generalized ANCA-associated vasculitis consists of corticosteroids and immunosuppressive agents such as cyclophosphamide (as induction therapy) or azathioprine (as maintenance therapy once remission has been achieved). The combination of plasmapheresis with these cytotoxic agents and steroids is effective in patients with Goodpasture's syndrome, especially if instituted early in the course of the disease. Recent evidence suggests that patients with severe ANCA-associated vasculitis, defined by the presence of diffuse alveolar haemorrhage and/or severe renal involvement (creatinine concentration > 5.7 mg/dl), might benefit from plasma exchange in combination with cyclophosphamide and corticosteroids. PMID:17547289

Brusselle, G G

2007-01-01

311

[The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome).  

PubMed

Based on the analysis of literature and own clinical experience, we discicuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented. PMID:24637822

Iovchuk, N M; Severny?, A A

2014-01-01

312

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

Microsoft Academic Search

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

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

1991-01-01

313

The Source for Syndromes 2.  

ERIC Educational Resources Information Center

Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

Richard, Gail J.; Hoge, Debra Reichert

314

Abdominal obesity and metabolic syndrome  

Microsoft Academic Search

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

Jean-Pierre Després; Isabelle Lemieux

2006-01-01

315

Down syndrome: a cardiovascular perspective  

Microsoft Academic Search

This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid-related cardiac impairment in patients with Down syndrome will be discussed.

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

2009-01-01

316

The 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

2006-01-01

317

Genetics Home Reference: Partington syndrome  

MedlinePLUS

... Fact Sheet Genetic Testing Registry: Partington X-linked mental retardation syndrome You might also find information on the ... syndrome? MRX36 Partington-Mulley syndrome Partington X-linked mental retardation syndrome PRTS X-linked intellectual deficit-dystonia-dysarthria ...

318

Post-Polio Syndrome.  

PubMed

Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics of poliomyelitis in the 1940s and 1950s. PPS is manifested by neurologic, musculoskeletal, and general manifestations. Neurologic manifestations include new weakness, muscle atrophy, dysphagia, dysphonia, and respiratory failure. Musculoskeletal manifestations include muscle pain, joint pain, spinal spondylosis and scoliosis, and secondary root and peripheral nerve compression. General manifestations include generalized fatigue and cold intolerance. New muscle weakness of a mild-to-moderate degree responds well to a nonfatiguing exercise program and pacing of activity with rest periods to avoid muscle overuse. Generalized fatigue may be treated with energy conservation and weight loss programs and lower extremity orthoses. Pharmacologic agents also may be helpful, but have not been beneficial in controlled trials. Bulbar muscle weakness includes dysphagia, dysphonia, sleep disorders, and chronic respiratory failure. Dysphagia may be improved with instruction on compensatory swallowing techniques. Dysphonia is treated with voice exercise therapy and voice amplification devices. Sleep disorders are treated similarly to sleep disorders in non-PPS patients. Respiratory failure may be treated with continuous positive airway pressure, bilevel positive airway pressure, and nasal ventilation, or tracheotomy and permanent ventilation if necessary. Musculoskeletal (muscle and joint) pain is treated with weight loss, pacing of activities, use of assistive devices, and prescribing anti-inflammatory medications and physical therapy techniques. Cardiopulmonary conditioning can be improved without muscle overuse with cycle or arm ergometer exercise or dynamic aquatic exercise. PMID:14759341

Jubelt, Bruk

2004-03-01

319

Angelman syndrome in adulthood.  

PubMed

Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16-50y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty-eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self-injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late-adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety. © 2014 Wiley Periodicals, Inc. PMID:25428759

Larson, Anna M; Shinnick, Julianna E; Shaaya, Elias A; Thiele, Elizabeth A; Thibert, Ronald L

2014-11-26

320

Aflibercept in Treating Patients With Myelodysplastic Syndromes  

ClinicalTrials.gov

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Secondary Myelodysplastic Syndromes

2015-01-07

321

Personality and metabolic syndrome  

PubMed Central

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

Costa, Paul T.; Uda, Manuela; Ferrucci, Luigi; Schlessinger, David; Terracciano, Antonio

2010-01-01

322

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

Microsoft Academic Search

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

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

1998-01-01

323

Effect of transfusion in acute chest syndrome of sickle cell disease  

Microsoft Academic Search

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

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

1995-01-01

324

[Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome].  

PubMed

Risk for leukemic conditions increases in individuals with Down syndrome. We report a third trimester antenatal diagnosis of leukemia in a Down syndrome fetus. The third trimester ultrasound examination revealed a hepatosplenomegaly, which may suggest a myelopoiesis disorder. A review of the literature of eight cases described antenatally and 14 cases in the immediate neonatal period is presented. PMID:20692111

Fouché, C; Ramos, A; Esperandieu, O; Briault, S; Martin, J-G; Desroches, A

2010-12-01

325

Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome  

PubMed Central

Andersen-Tawil syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. She was diagnosed with ATS, based on dysmorphic features, ventricular arrhythmia, and periodic paralysis. This is the first case to be reported in Korea who experienced a fatal cardiac arrest and respiratory failure caused by ATS. PMID:23407770

Pyo, Jung Yoon; Joh, Dong Hoo; Park, Jin Su; Lee, Seung-Jun; Lee, Hancheol; Kim, Wonjin

2013-01-01

326

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

PubMed

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

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

2012-07-01

327

Ischemic Bilateral Opercular Syndrome  

PubMed Central

Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

Milanlioglu, Aysel; Ayd?n, Mehmet Nuri; Gökgül, Alper; Hamamc?, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

2013-01-01

328

[Post-polyiomyelitis syndrome].  

PubMed

Postpoliomyelitis syndrome is a clinical syndrome characterized by late progression of symptoms, neuromuscular weakness, fatigue and pain, several (more than 20) Years after acute anterior poliomyelitis. In the United States, where it has been mainly described, frequency is estimated between 20 and 30p.100 in patients with sequelae of poliomyelitis. Although the cause is still unknown, postpoliomyelitis syndrome is likely due to degeneration and dysfunction of terminal axons of enlarged post-polio units, with a possible role of inflammatory reaction driven by persistence of the polio virus. Due to lack of specific therapy, rational therapeutic approaches are symptomatic, including exercise, reassurance and life-strategies for fatigue. PMID:15034482

Clavelou, P

2004-02-01

329

Maroteaux-Lamy syndrome.  

PubMed

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay. PMID:15531839

Lakhotia, Siddharth; Sharma, Alok; Shrivastava, G P; Jain, S K

2004-10-01

330

Anton's Syndrome and Eugenics  

PubMed Central

Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

Frahm-Falkenberg, Siska

2011-01-01

331

Dostoevsky and Stendhal's syndrome.  

PubMed

Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle. PMID:16400436

Amâncio, Edson José

2005-12-01

332

Lance-Adams Syndrome  

PubMed Central

It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program. PMID:22977784

Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun

2012-01-01

333

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-?B Pathway in Cilia  

PubMed Central

Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, mutations in two genes, IFT80 and DYNC2H1, have been identified as being responsible for SRP type III. Via homozygosity mapping in three affected siblings, a locus for the disease was identified on chromosome 9q34.11, and homozygosity for three missense mutations in WDR34 were found in three independent families, as well as compound heterozygosity for mutations in one family. WDR34 encodes a member of the WD repeat protein family with five WD40 domains, which acts as a TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-?B activation pathway. We showed, through structural modeling, that two of the three mutations altered specific structural domains of WDR34. We found that primary cilia in WDR34 mutant fibroblasts were significantly shorter than normal and had a bulbous tip. This report expands on the pathogenesis of SRP type III and demonstrates that a regulator of the NF-?B activation pathway is involved in the pathogenesis of the skeletal ciliopathies. PMID:24183449

Huber, Céline; Wu, Sulin; Kim, Ashley S.; Sigaudy, Sabine; Sarukhanov, Anna; Serre, Valérie; Baujat, Genevieve; Le Quan Sang, Kim-Hanh; Rimoin, David L.; Cohn, Daniel H.; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie

2013-01-01

334

The Periodic Table  

NSDL National Science Digital Library

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

Cutting, Mrs.

2011-01-05

335

Autoinflammatory syndromes for the dermatologist.  

PubMed

While autoimmunity as cause of disease is well-established, other categories of immune-mediated diseases that are not produced by targeting of self-antigens by antibodies is in the process of being described. These so-called autoinflammatory diseases arise when an inappropriate activation of antigen-independent mechanisms occurs. Autoinflammatory diseases course with recurrent attacks of fever and multisystemic inflammation; however, the skin may also be affected by a variety of inflammatory manifestations that often alert the clinician about the presence of an autoinflammatory disease. Recognizing the cutaneous features of these syndromes will aid for prompt diagnosis and early treatment that is key for the quality of life and survival of the affected patients. In this paper, we focus on the skin manifestations of autoinflammatory diseases in children, which is the usual period of appearing of the first symptoms and signs. PMID:25017460

Dávila-Seijo, Paula; Hernández-Martín, Angela; Torrelo, Antonio

2014-01-01

336

Saturn's variable radio period  

NASA Astrophysics Data System (ADS)

Temporal modulations in radio emissions are often used to determine the rotation rate of the emitting body. The rotation period (presumably) of Jupiter's interior was established in this way [Burke et al., 1962] and has recently been refined by Higgins et al. [1997]. Rotation periods for the remainder of the outer planet gas giants were determined from Voyager planetary radio astronomy observations. Similar techniques have been applied to astrophysical objects, including pulsars, for which the radio period is assumed to be the rotation period of the neutron star. In 2001, however, this simple relation between the radio period and rotation period became suspect, at least for the case of Saturn. Galopeau and Lecacheux [2001] reported that the radio period of Saturn had changed by as much as 1% from that determined by Voyager and, further, exhibited variations on time scales of years. More recently, Cassini observations indicate that the Saturn kilometric radiation is modulated with a period longer than that observed by Voyager and that this period is variable on a time scale of a year or less. The recent Higgins et al. result suggests that Jupiter's period is steady, within measurement accuracy. There are no additional measurements from Uranus or Neptune with which to look for time variations in their radio periods. For conservation of energy and angular momentum reasons, true variations of the rotation period of Saturn's deep interior are not believed to be a viable explanation for the variation in radio period, hence, it would appear that there is some disconnection of the radio period from the rotation period in the case of Saturn. One possible contributing factor may be that since Saturn's magnetic field is very accurately aligned with its rotational axis, there is no first-order beaming effect caused by the wobbling of the magnetic field, contrary to the situation at the other magnetized planets. Another explanation suggested by Galopeau and Lecacheux [2001] and more recently by Cecconi and Zarka [2005] is that variations in the solar wind may affect the period of the radio emissions. Very recently, Giampieri et al. [2006] reported a periodicity in the magnetic field measured by Cassini over a 14-month period that appears to be steady over this time interval. However, the period is consistent, within the ± 40-s error, with that measured for the radio emissions over the same interval. It appears, then, that the periodicity in the magnetic field is the same as that which has been measured by radio methods for several decades. Since both the radio emission and the magnetic field measurements are based on the field external to the planet, some slippage between the external field and the interior field is suggested. The understanding of the variable period of Saturn's 1 external magnetic field and its relation to the deep interior of the planet is perhaps one of the most fundamental and profound mysteries confronting the Cassini mission at this time. 2

Kurth, W. S.; Lecacheux, A.; Zarka, P.; Gurnett, D. A.; Cecconi, B.

337

Intracellular CXCR4 signaling, neuronal apoptosis and neuropathogenic mechanisms of HIV1-associated dementia  

Microsoft Academic Search

The mechanism(s) by which HIV-1 affects neural injury in HIV-1-associated dementia (HAD) remains unknown. To ascertain the role that cellular and viral macrophage products play in HAD neurotoxicity, we explored one potential route for neuronal demise, CXCR4. CXCR4, expressed on lymphocytes and neurons, is both a part of neural development and a co-receptor for HIV-1. Its ligand, stromal cell-derived factor-1?

Jialin Zheng; Michael R Thylin; Anuja Ghorpade; Huangui Xiong; Yuri Persidsky; Robin Cotter; Douglas Niemann; MyHanh Che; Yong-Chun Zeng; Harris A Gelbard; Robin B Shepard; Jennifer M Swartz; Howard E Gendelman

1999-01-01

338

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

PubMed Central

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

2014-01-01

339

PEC: Period Error Calculator  

NASA Astrophysics Data System (ADS)

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

Mighell, Kenneth J.

2013-04-01

340

Science Sampler: Periodic Table  

NSDL National Science Digital Library

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

Galus, Pamela

2004-01-01

341

The Living Periodic Table  

ERIC Educational Resources Information Center

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

Nahlik, Mary Schrodt

2005-01-01

342

Automated Periodical Reference Service.  

ERIC Educational Resources Information Center

Describes public library reference service which allows patrons to type out search instructions on a computer terminal, review and select references, and receive, by high-speed printer, facsimile copy of selected periodical articles. Development of periodicals center at main county library and use of self-coaching SEARCH HELPER system are…

Ellefsen, David

1985-01-01

343

Gorlin-Goltz syndrome  

PubMed Central

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases. PMID:22363371

Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

2012-01-01

344

Shaken Baby Syndrome  

MedlinePLUS

... and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to ...

345

Carpal Tunnel Syndrome  

MedlinePLUS

... or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your ...

346

Crigler-Najjar syndrome  

MedlinePLUS

Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. Call your ... Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have ...

347

Cri du chat syndrome  

MedlinePLUS

... of a child with this syndrome should have genetic counseling and testing to determine if one parent has ... child's health care providers after leaving the hospital. Genetic counseling and testing is recommended for all persons with ...

348

The cone dysfunction syndromes  

PubMed Central

The cone dystrophies comprise a heterogeneous group of disorders characterised by visual loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus and photophobia. They may be stationary or progressive. The stationary cone dystrophies are better described as cone dysfunction syndromes since a dystrophy often describes a progressive process. These different syndromes encompass a wide range of clinical and psychophysical findings. The aim is to review current knowledge relating to the cone dysfunction syndromes, with discussion of the various phenotypes, the currently mapped genes, and genotype-phenotype relations. The cone dysfunction syndromes that will be discussed are complete and incomplete achromatopsia, oligocone trichromacy, cone monochromatism, blue cone monochromatism, and Bornholm eye disease. Disorders with a progressive cone dystrophy phenotype will not be discussed. PMID:14736794

Michaelides, M; Hunt, D M; Moore, A T

2004-01-01

349

Uveitis masquerade syndromes  

Microsoft Academic Search

BackgroundIncorrect diagnosis of the uveitic masquerade syndromes (UMS) may have severe consequences. In this study, the frequency, clinical manifestations, and informative diagnostic tests for UMS are described.

Aniki Rothova; Francien Ooijman; Frank Kerkhoff; Allegonda Van der Lelij; Henk M Lokhorst

2001-01-01

350

National Down Syndrome Society  

MedlinePLUS

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

351

Sexuality and Down Syndrome  

MedlinePLUS

... interpersonal relationships and social experiences relating to dating, marriage and the physical aspects of sex. Sex education, ... with Down syndrome often express interest in dating, marriage and parenthood. They can be expected to experience ...

352

Complex Regional Pain Syndrome  

MedlinePLUS

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

353

Angelman Syndrome Foundation  

MedlinePLUS

... a reason to smile. Get Involved In the News Research Investigates Health Issues in Adults with Angelman ... million in Angelman syndrome research to date. Exciting News about ASF Funded Research Beaudet Research moves closer ...

354

Brown-Sequard Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Brown-Sequard Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

355

Klüver-Bucy Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Klüver-Bucy Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

356

Locked-In Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Locked-In Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

357

Learning about Marfan Syndrome  

MedlinePLUS

... one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once ... with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by ...

358

Loeys-Dietz Syndrome  

MedlinePLUS

... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... how to make proteins, including the proteins in connective tissue. These genes are called transforming growth factor beta- ...

359

Acute Radiation Syndrome  

MedlinePLUS

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

360

Central Cord Syndrome  

MedlinePLUS

... to those over the age of 50. What research is being done? Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological ...

361

What Causes Rett Syndrome?  

MedlinePLUS

... www.ncbi.nlm.nih.gov/pubmed/15917271 [top] Jacob, F. D., Ramaswamy, V., Andersen, J., & Bolduc, F. V. (2009). Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic ...

362

Patellofemoral Pain Syndrome  

MedlinePLUS

... on nonimpact elliptical trainers, which are popular at gyms. Because these machines support your body weight, they ... What kind of exercise should I do? Bibliography Management of Patellofemoral Pain Syndrome by S Dixit, M.D., ...

363

Russell-Silver syndrome  

MedlinePLUS

... be done: Blood sugar (some children may have low blood glucose) Bone age testing (bone age is often younger than the child's actual age) Chromosome testing (may detect a ... rule out other conditions that may mimic Russell-Silver syndrome)

364

Nephrotic Syndrome in Adults  

MedlinePLUS

... syndrome includes the following: proteinuria—large amounts of protein in the urine hyperlipidemia—higher than normal fat ... of albumin in the blood Albumin is a protein that acts like a sponge, drawing extra fluid ...

365

Landau-Kleffner Syndrome  

MedlinePLUS

... Landau-Kleffner Syndrome Information Page Synonym(s): Acquired Epileptiform Aphasia Table of Contents (click to jump to sections) ... characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and ...

366

Fetal Alcohol Syndrome  

MedlinePLUS

... alcohol syndrome. It is the leading cause of mental retardation in the United States. Remember these things No ... have behavior problems. The most serious problem is mental retardation. Causes & Risk Factors Will it hurt my baby ...

367

Fragile X Syndrome Overview  

MedlinePLUS

... can affect: Communication skills Physical appearance Sensitivity to noise, light, or other sensory information Fragile X syndrome ... to Advance Birth Defects Research NICHD Co-Sponsors White House Disability Summit NIH awards $35 Million for ...

368

Guillain-Barré Syndrome  

MedlinePLUS

... to their normal lives and activities. What Is Guillain-Barré Syndrome? Experts believe that GBS is an autoimmune ... for foreign material and begins to attack them. Guillain-Barré can affect people of any age, but it ...

369

Carpal Tunnel Syndrome  

MedlinePLUS

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

370

Down Syndrome (For Parents)  

MedlinePLUS

... with Down syndrome. Diagnostic tests include: Chorionic villus sampling (CVS). CVS involves taking a tiny sample of ... as preterm labor and miscarriage. Percutaneous umbilical blood sampling (PUBS). Usually performed after 18 weeks, this test ...

371

Ectopic Cushing syndrome  

MedlinePLUS

... Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 15. Susmeeta TS, Nieman LK. Cushing's syndrome: all variants, detection, and treatment. Endocrinol Metab Clin ...

372

What Causes Cushing's Syndrome?  

MedlinePLUS

... caused by one of several sources: Allergies Asthma Autoimmune (pronounced aw-toh-i-MYOON ) diseases, where the ... syndrome. This progestin medication is taken to treat abnormal menstruation or irregular vaginal bleeding, or to prevent ...

373

Obesity Hypoventilation Syndrome  

MedlinePLUS

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

374

Obesity hypoventilation syndrome (OHS)  

MedlinePLUS

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

375

Autoimmune lymphoproliferative syndrome.  

PubMed

Autoimmune lymphoproliferative syndrome arises early in childhood in people who inherit mutations in genes that mediate lymphocyte apoptosis, or programmed cell death. In the immune system, antigen-induced lymphocyte apoptosis maintains immune homeostasis by limiting lymphocyte accumulation and minimizing reactions against self-antigens. In autoimmune lymphoproliferative syndrome, defective lymphocyte apoptosis manifests as chronic, nonmalignant adenopathy and splenomegaly; the expansion of an unusual population of CD4-CD8- T cells; and the development of autoimmune disease. Most cases of autoimmune lymphoproliferative syndrome involve heterozygous mutations in the lymphocyte surface protein Fas (CD95, Apo1) that impair a major apoptotic pathway. Prospective evaluations of patients and their families have revealed an ever-expanding spectrum of autoimmune lymphoproliferative syndrome and its major complications. PMID:12819469

Sneller, Michael C; Dale, Janet K; Straus, Stephen E

2003-07-01

376

Neurological paraneoplastic syndromes.  

PubMed Central

Paraneoplastic neurological syndromes are uncommon, however, their diagnosis is of major practical importance. The identification of antibodies in the serum or cerebrospinal fluid in central nervous system paraneoplastic syndromes confirms the clinical diagnosis of a paraneoplastic syndrome and allows early identification of an underlying tumour at a stage when it is localised and more amenable to treatment. The failure to identify antibodies in patients with characteristic presentations of underlying neurological paraneoplastic syndromes does not exclude an underlying cancer. Necrotising myelopathy, dermatomyositis, and chronic inflammatory demyelinating polyneuropathy all occur more frequently than expected in patients with cancer but autoantibodies have not yet been identified. Although significant advances have been made in diagnosis, further research is needed in the detection of autoantibodies and the elucidation of their role in the aetiology of neurological disease. Images PMID:9516876

Nath, U; Grant, R

1997-01-01

377

[Tumor lysis syndrome].  

PubMed

Tumor lysis syndrome is a potentially life threatening oncologic emergency that requires immediate medical intervention. The syndrome results from the destruction (or lysis) of a large number of rapidly dividing malignant cells spontaneously or during chemotherapy. The resulting metabolic abnormalities include hyperkaliemia, hyperuricemia, and hyperphosphatemia with secondary hypocalcemia, all of which put patients at risk for renal failure and alteration in cardiac function. The tumor lysis syndrome occurs most often in patients with large tumor burdens that are very sensitive to chemotherapy and radiotherapy, such as acute or chronic leukaemias with high leukocyte counts and high-grade lymphoma. The current standard management for tumor lysis syndrome consists of allopurinol or recombinant urate oxidase for high risk patient in conjunction with i.v. hydratation with or without alkalinization. PMID:17665670

Jeddi, Ramzi; Ben Abdennebi, Yosr; Allani, Bassam; Belakhal, Raihane; Aissaoui, Lamia; Ben Abid, Hela; Ali, Zaher Belhadj; Meddeb, Balkis

2007-02-01

378

Shaken Baby Syndrome.  

ERIC Educational Resources Information Center

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

Alexander, Randell C.; Smith, Wilbur L.

1998-01-01

379

Carpal Tunnel Syndrome  

MedlinePLUS

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

380

Chinese restaurant syndrome  

MedlinePLUS

Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... drug additives. In: Adkinson NF Jr, ed. Middleton’s Allergy: Principles and Practice . 7th ed. Philadelphia, Pa: Mosby ...

381

Cracked Tooth Syndrome  

MedlinePLUS

... your teeth, talk to your dentist about treatment. Grinding can increase your risk of cracked tooth syndrome. ... a plastic bite piece) to prevent you from grinding your teeth. This will relieve the pain from ...

382

Sudden infant death syndrome  

MedlinePLUS

... on Sudden Infant Death Syndrome. SIDS and Other Sleep-Related Infant Deaths: Expansion of Recommendations for a Safe Infant Sleeping Environment. Pediatrics. 2011. 128(5):e1341-e1367. Hauck FR, ...

383

Fragile X Syndrome  

MedlinePLUS

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

384

The Pictorial Periodic Table  

NSDL National Science Digital Library

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

Heilman, Chris.

2005-11-01

385

[Association of Sjögren's syndrome and Plummer Vinson syndrome].  

PubMed

Dysphagia is a common complaint of patients with Sjogren's syndrome, but its mechanism remains a subject of controversy. The association of Sjogren's syndrome with Plummer-Vinson syndrome remains uncommon. We report a 56-year-old women who presented both disorders. The diagnosis of the Plummer-Vinson syndrome was based on the classic triad of dysphagia, iron-deficiency anaemia and oesophageal webs. The diagnosis of Sjogren's syndrome was based on the presence of three Fox criteria. This association should incite us to search for common immuno-genetic pathogenic factors between these two syndromes. PMID:20554085

Ouakaa-Kchaou, A; Jebali, S; Elloumi, H; Gargouri, D; Kochlef, A; Romani, M; Kilani, A; Kharrat, J; Ghorbel, A

2011-02-01

386

Living with Asperger Syndrome  

Microsoft Academic Search

\\u000a This chapter has two purposes. The first is to explore several issues of importance for families with members diagnosed with\\u000a Asperger Syndrome (AS). The practical advice contained within comes from the experience Sherry Moyer gained in parenting a\\u000a child with AS and in helping others through her position as executive director of the Asperger Syndrome Coalition of the United\\u000a States.

Sherry Moyer; Sheryl Breetz

387

Celiac Artery Compression Syndrome  

PubMed Central

Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy. PMID:23653867

Muqeetadnan, Mohammed; Amer, Syed; Rahman, Ambreen; Nusrat, Salman; Hassan, Syed

2013-01-01

388

Eltrombopag in Good's Syndrome  

PubMed Central

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

Heldal, Dag

2014-01-01

389

Dermatoglyphics in turner syndrome  

Microsoft Academic Search

Finger and Palmar dermatoglyphics in 25 karyotypically proven cases of Turner syndrome representing Northwestern region of\\u000a India are presented and compared with those obtained on their 102 normal female counterparts. Predominance of ulnar loops\\u000a over other patterns was recorded in turner patients. Mean total finger ridge count in Turner syndrome (147.4) remained higher\\u000a than the normal females (121.1). c-d interdigital

A. K. Bhalla; A. Sharma; A. Trehan; R. Muralidharan; R. Bagga

2005-01-01

390

Parsonage-Turner Syndrome  

Microsoft Academic Search

Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder\\u000a consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive\\u000a neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is\\u000a reported in various clinical situations, including postoperatively,

Joseph H. Feinberg; Jeffrey Radecki

2010-01-01

391

Parsonage–Turner syndrome  

Microsoft Academic Search

Magnetic resonance imaging is a useful tool in the diagnosis of Parsonage–Turner syndrome. The acute–subacute findings of increased signal intensity primarily within the supraspinatus muscle on fat-saturated proton density and T2-weighted images are characteristic of the syndrome. Chronic findings include focal increased T1 signal within the involved musculature consistent with atrophy. The exclusion of other possible diagnoses such as a

Geoffrey Brett Marshall; Eugene McKenna; Houman Mahallati

2005-01-01

392

Temperament in Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.

2007-01-01

393

Post Vasectomy Pain Syndrome  

Microsoft Academic Search

Although the prevalence of post vasectomy pain syndrome is unknown, it is certain that the incidence of this uncommon complication\\u000a will increase because of the continued popularity of vasectomy as a highly effective and economic means of contraception.\\u000a This chapter covers the evaluation of and treatment options available for the sequelae of symptoms associated with post vasectomy\\u000a pain syndrome and

Jeannette M. Potts

394

MECP2 Duplication Syndrome  

PubMed Central

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome. PMID:22679399

Van Esch, H.

2012-01-01

395

Congenital nephrotic syndrome  

Microsoft Academic Search

Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema\\u000a starting soon after birth. The majority of cases are caused by genetic defects in the components of the glomerular filtration\\u000a barrier, especially nephrin and podocin. CNS may also be a part of a more generalized syndrome or caused by a perinatal infection.\\u000a Immunosuppressive medication

Hannu Jalanko

2009-01-01

396

Hamartomatous polyposis syndromes: A review  

PubMed Central

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

2014-01-01

397

Creutzfeldt-Jakob-Like Syndrome due to Hypercalcemic Encephalopathy.  

PubMed

Hypercalcemia can cause a subacute syndrome of progressive dementia and marked changes in the electroencephalogram (EEG). We report a case of iatrogenic hypercalcemia with a close correlation between the clinical course and the EEG changes. A 73-year-old woman presented with a subacute syndrome of progressive dementia and bursts of 1.5 to 2 Hz intermittent rhythmic delta activity superimposed on a low-voltage background activity in the EEG. Clinical and EEG abnormalities rapidly resolved after normalization of serum calcium levels. As part of the diagnostic workup of a subacute progressive dementia, a serum calcium level and an EEG should be obtained to detect a Creutzfeldt-Jakob like syndrome in hypercalcemia. Unlike in Creutzfeldt-Jakob disease, and Creutzfeldt-Jakob-like syndrome induced by lithium intoxication, there are rarely myoclonic jerks and periodic discharges in hypercalcemic encephalopathy. PMID:24973231

Rösche, Johannes; Sieveking, Catharina; Kampf, Christina; Benecke, Reiner

2014-06-27

398

Infections in myelodysplastic syndromes  

PubMed Central

Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes. PMID:22733024

Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

2012-01-01

399

JAMA Patient Page: Guillain-Barré Syndrome  

MedlinePLUS

... of the American Medical Association JAMA PATIENT PAGE Guillain-Barré Syndrome G uillain-Barré syndrome (GBS) is a ... 4 weeks). DIAGNOSIS AND TREATMENT RISK FACTORS FOR GUILLAIN-BARRÉ SYNDROME Symptoms of Guillain-Barré syndrome sometimes require ...

400

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

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

2013-01-01

401

[Fetal diagnosis of Edwards syndrome].  

PubMed

Eight cases of Edward's syndrome were found prenatally by cytogenetical analysis of 1680 pregnant women. It has been estimated that after Down's syndrome Edwards's syndrome is the most frequently encountered chromosomal abnormality. This syndrome is associated with high rate of anomalies detectable by ultrasound (e.g. omphalocele, polyhydramnion, growth retardation). Here it is discussed in relation with sonographical findings related to Edwards's syndrome and representing clear indications for chromosomal analysis. The authors call attention to the importance of the diagnosis of Edward's syndrome at each gestational age. PMID:2234934

Tóth, A; Hajdu, K; Intödy, Z; Rajczy, K; László, J

1990-10-28

402

Marfan syndrome: An eyesight of syndrome?  

PubMed Central

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

Kumar, Ashok; Agarwal, Sarita

2014-01-01

403

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

MedlinePLUS

... Marketing Share this: Main Content Area Hyper-Immunoglobulin E Syndrome (HIES) or Job’s Syndrome Folio 46r from ... levels of a type of antibody called immunoglobulin E (IgE), and a tendency to have bone fractures. ...

404

The Cretaceous Period  

NSDL National Science Digital Library

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

405

Setting the Periodic Table.  

ERIC Educational Resources Information Center

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

Saturnelli, Annette

1985-01-01

406

Graphing the Periodic Table  

NSDL National Science Digital Library

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

Foundation, Wgbh E.

2007-08-09

407

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.

408

The Periodic Table CD.  

ERIC Educational Resources Information Center

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

Banks, Alton J.; Holmes, Jon L.

1995-01-01

409

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

410

Effects of periodic discharges  

NASA Technical Reports Server (NTRS)

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

Ford, F. E.

1977-01-01

411

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

PubMed

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

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

2013-06-01

412

Dietary patterns and metabolic syndrome in a Japanese working population  

PubMed Central

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

2013-01-01

413

[West syndrome associated with epileptic negative myoclonus].  

PubMed

We report a 10-month-old girl who had brief epileptic negative myoclonus during the course of West syndrome. She began to have epileptic spasms in series at the age of 8 months. Video-electroencephalograph (EEG) monitoring revealed that she also had brief epileptic negative myoclonus when she was 10 months old. Brief atonia of limbs occurred in isolation or in a cluster during drowsiness or sleep. The ictal EEG exhibited diffuse polyspikes and waves or diffuse high-voltage slow waves that were overlapped by low-voltage fast waves. 3 to 4 hundred milliseconds of silent periods were observed in the bilateral deltoid electromyograms, which correspond to the EEG patterns. The occurrence of other types of seizures, partial seizures in particular, accompanied by epileptic spasms has been fully investigated. This is the first case report of a patient with West syndrome whose coexisting epileptic negative myoclonus was confirmed by a silent electromyogram pattern. PMID:25403066

Shibata, Takashi; Yoshinaga, Harumi; Oka, Makio; Kobayashi, Katsuhiro

2014-09-01

414

Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

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

Mason, Linda; Cunningham, Cliff

2009-01-01

415

Genetics Home Reference: Knobloch syndrome  

MedlinePLUS

... feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common ... membranes ; breakdown ; cell ; collagen ; disability ; gene ; inherited ; macula ; myopia ; nearsightedness ; prevalence ; protein ; recessive ; retina ; syndrome ; tissue You ...

416

Families and Fragile X Syndrome  

MedlinePLUS

... to the National Institute of Child Health and Human Development (NICHD) family album about Fragile X syndrome. As ... syndrome? The National Institute of Child Health and Human Development (NICHD) National organizations Additional resources References and Acknowledgements ...

417

Mediterranean Diet and Metabolic Syndrome  

MedlinePLUS

... the lower right-hand corner of the player. Mediterranean Diet and Metabolic Syndrome HealthDay October 15, 2014 ... blood glucose levels. Now, researchers say following the Mediterranean diet may help reverse the syndrome. They included ...

418

Genetics Home Reference: Emanuel syndrome  

MedlinePLUS

... 22. The extra chromosome is known as a derivative 22 or der(22) chromosome. As a result ... supernumerary der(22)t(11;22) syndrome supernumerary derivative 22 chromosome syndrome For more information about naming ...

419

Middle East Respiratory Syndrome (MERS)  

MedlinePLUS

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

420

How Is Metabolic Syndrome Treated?  

MedlinePLUS

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

421

Genetics Home Reference: FG syndrome  

MedlinePLUS

... use for FG syndrome? FGS FGS1 Keller syndrome mental retardation, large head, imperforate anus, congenital hypotonia, and partial ... hypertelorism ; hypotonia ; imperforate anus ; inguinal ; inheritance ; inherited ; macrocephaly ; mental retardation ; muscle tone ; mutation ; obstruction ; prevalence ; protein ; recessive ; sex ...

422

Genetics Home Reference: Costello syndrome  

MedlinePLUS

... with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor ... hypertrophic ; hypotonia ; malformation ; muscle tone ; mutation ; prevalence ; protein ; rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell carcinoma ; ...

423

Genetics Home Reference: Klinefelter syndrome  

MedlinePLUS

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

424

Genetics Home Reference: Jacobsen syndrome  

MedlinePLUS

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

425

Syndromic Disorders with Short Stature  

PubMed Central

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

??klar, Zeynep; Berbero?lu, Merih

2014-01-01

426

Aicardi-Goutieres Syndrome Disorder  

MedlinePLUS

... is Aicardi-Goutieres Syndrome Disorder? Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants ... about 20 percent of all babies who have AGS. These infants are born with neurological and liver ...

427

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

PubMed Central

The neuroregulatory activities of PMS-601, a platelet activating factor antagonist, were investigated in laboratory and animal models of HIV-1 encephalitis (HIVE). For the former, PMS-601 reduced monocyte-derived macrophage pro-inflammatory factors, multinucleated giant cell (MGC) formation, and neuronal loss independent of antiretroviral responses. PMS-601 treatment of HIVE severe combined immunodeficient mice showed reduced microgliosis, MGC formation and neurodegeneration. These observations support the further development of PMS-601 as an adjunctive therapy for HIV-1 associated neurocognitive disorders. PMID:19541372

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

2009-01-01

428

Alport's Syndrome in Pregnancy  

PubMed Central

Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy. Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes. PMID:23861686

Mehta, Suchita; Saifan, Chadi; Abdellah, Marie; Choueiry, Rita; Nasr, Rabih; El-Sayegh, Suzanne

2013-01-01

429

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. PMID:16558255

Zimmerman, Gregory R.

1994-01-01

430

[Sézary's syndrome (author's transl)].  

PubMed

The syndrome described in 1938 by Sézary and Bouvrain is characterized by a possibly hyperpigmented erythroderma with oedema and infiltration of the skin, palmo-plantar keratoderma, diffuse alopecia and large lymphadenopathies. The cutaneous histopathology frequently shows a dermal mononuclear infiltrate with, sometimes, epidermal microabcesses. But none of these signs is actually specific for the Sézary syndrom, the only criteria of which is the presence of circulating Sézary cells with their folded, cerebriform nucleus demonstrated by electron microscopy. The Sezary cell is to date clearly identified as a T lymphocyte but membrane markers and Tcell fonction studies could elicite abnormal and poor reactive T cell. In order to assert the Sézary Syndrome it is stated by the authors that the erythroderma must be associated with more than 10% of Sézary cells in peripheral blood. This feature is needed to differentiate the Sézary syndrome from the erythrodermic form of mycosis fondoïdes in which the abnormal T cell proliferation is mainly located in the skin. The relationship with the T cell chronic lymphatic leukemia and the main treatments of the Sezary syndrome are discussed. PMID:149300

Guilhou, J J; Meynadier, J; Clot, J

1978-01-01

431

[Oto-vertebral syndrome].  

PubMed

The oto-vertebral syndrome is supposed to be caused by an early embryonic exogenous damage which at the same time affects the development of the ear and vertebral column and possibly also causes cardiac anomalies. Animal studies showed that the malformation syndrome originates in the 6th-7th week of embryonic development. The extent of the malformations of the ear and the vertebral column varies. Frequently seen are dysplasia of the external ear and dystopia and atresia of the external ear canal as well as vertebral malformations, mostly involving the thoracic region. Only 4 case reports have been published in the literature. The differential diagnosis includes Goldenhar-syndrome, oculo-vertebral syndrome. Thalidomide-syndrome and chromosomal aberrations. Therapy depends on the extent of the malformations. In case of atresia of the ear canal hearing is first of all improved with a hearing aid, operative procedures are to be planned later on. Child development is promoted with acustic stimulation. PMID:1225802

Böggering, B

1975-10-23

432

The management of patients with the short bowel syndrome  

Microsoft Academic Search

The surgeon is invariably the primary specialist involved in managing patients with short bowel syndrome. Because of this they will play an important role in co-ordinating the management of these patients. The principal aims at the initial surgery are to preserve life, then to preserve gut length, and maintain its continuity. In the immediate postoperative period, there needs to be

Cameron F. E. Platell; Jane Coster; Rosalie D. McCauley; John C. Hall

433

Metformin for the Treatment of the Polycystic Ovary Syndrome  

Microsoft Academic Search

A 23-year-old woman with known polycystic ovary syndrome visits her family physi- cian. She has taken oral contraceptive pills in the past but did not tolerate them and is not currently receiving any treatment. She has three or four menstrual periods per year and is not interested in becoming pregnant now, but she will be getting married in a year.

John E. Nestler

2010-01-01

434

Consonants in Cri du chat syndrome: A case study  

Microsoft Academic Search

This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and tuning, (2) errors of

Kristian Emil Kristoffersen

2008-01-01

435

Consonants in Cri du Chat Syndrome: A Case Study  

ERIC Educational Resources Information Center

This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation. Furthermore, these errors were shown to fall into three main categories: (1) errors of differentiation and…

Kristoffersen, Kristian Emil

2008-01-01

436

Dysfluency and Phonic Tics in Tourette Syndrome: A Case Report.  

ERIC Educational Resources Information Center

This study investigated the disfluencies and phonic tics in an 18- year-old male with Tourette syndrome before and after a 3-week period of speech therapy. The subject's speech pattern did not completely conform to the classic pattern of stuttering but bore more resemblance to cluttering. A limited number of therapy sessions resulted in a…

Van Borsel, John; Vanryckeghem, Martine

2000-01-01

437

Language Profile of a Child with Landau-Kleffner Syndrome  

ERIC Educational Resources Information Center

We report here a longitudinal study of a 3.8 year old female child diagnosed as having Landau Kleffner Syndrome (LKS). Speech-language analysis was carried out over a two-year period while the child was on medical treatment regime. The result of the language evaluation suggests that this child demonstrated exacerbation and remission in accordance…

Shivashankar, N.; Priya, G. Vishnu; Raksha, H. R.; Ratnavalli, E. R.

2010-01-01

438

Occurrence of cancer in women with Turner syndrome  

Microsoft Academic Search

A study of cancer incidence in a cohort of 597 women with Turner syndrome (TS) and a virtually complete follow-up is presented. The cohort was established from the Danish Cytogenetic Register. Information on cancer incidence was obtained from the Danish Cancer Registry and compared with the expected number calculated from the age-, period- and site-specific cancer rates for Danish women.

H Hasle; JH Olsen; J Nielsen; J Hansen; U Friedrich; N Tommerup

1996-01-01

439

Using Discrete Trial Instruction to Teach Children with Angelman Syndrome  

ERIC Educational Resources Information Center

Discrete trial instruction (DTI) was used to teach functional skills to three children with Angelman syndrome, a neurogenetic disorder that overlaps with autism and is associated with severe cognitive, speech, and motor impairments. Children received individual DTI teaching sessions 2 to 3 times per week over a 12-month period and displayed…

Summers, Jane; Szatmari, Peter

2009-01-01

440

Pharmacologic management of neonatal abstinence syndrome in a community hospital.  

PubMed

Neonatal abstinence syndrome has become a growing concern in infants born to substance-abusing mothers in the State of Florida. At Sarasota Memorial Hospital in Sarasota, FL, methadone and morphine treatment strategies have been formulated to manage symptomatic neonates after birth. We report our findings over a 5-year period utilizing each of these protocols in a community hospital setting. PMID:23314713

Napolitano, Anthony; Theophilopoulos, Dean; Seng, Sara K; Calhoun, Darlene A

2013-03-01

441

Dentofacial growth in patients with Sotos syndrome.  

PubMed

Sotos syndrome is an overgrowth syndrome leading to peculiar facial characteristics, large hands and feet, and mental retardation. The maxillofacial characteristics are metopic protrusion, a high and narrow palate and a tapered mandible. In this study, we evaluated changes in maxillofacial growth in 2 patients with cerebral gigantism during the peripubertal period. Patient 1 was a boy aged 8 years at the first examination. The face showed midface retraction and a tapered mandible. Maxillary median diastema with an OJ of 2.5 mm and OB of 1.0 mm was observed, and the molar region showed mandibular mesial occlusion. Radiography revealed a lack of 15, 25, 37, 47, 14, 24, 34 and 44. Cephalometrics demonstrated maxillary and mandibular retrusion with an SNA of 68 degrees and an SNB of 70 degrees , and the patient had leptoprosopia with a mandibular plane of 38.0 degrees . This plane was 45 degrees at the time of re-examination when the patient was 14 years old, showing an increase in the lower facial height and decreases in facial axis and depth. Patient 2 was a boy aged 14 years at the first examination. The face showed mandibular retrusion and tapering. The occlusion was angle class II div. 1, OJ 14 mm, and OB -1 mm. Cephalometrics demonstrated maxillary and mandibular retrusion with an SNA of 74.5 degrees and an SNB of 69.5 degrees , and the patient had leptoprosopia with a mandibular plane of 37.0 degrees . At the time of re-examination, when the patient was 16 years old, the mandibular plane was 42.5 degrees , showing an increase in lower facial height and decreases in facial axis and depth. In this syndrome, excessive facial height without mandibular forward overgrowth is observed. Since the facial height tended to increase by growth during the peripubertal period, maxillofacial vertical growth is considered important in the treatment of this syndrome. PMID:17978548

Takei, Kunio; Sueishi, Kenji; Yamaguchi, Hideharu; Ohtawa, Yumi

2007-05-01

442

Pregnancy and catastrophic antiphospholipid syndrome.  

PubMed

Antiphospholipid syndrome (APS) is clearly related to maternal morbidity. The most characteristic feature is pregnancy loss; however, several other serious complications had been reported including fetal growth restriction, uteroplacental insufficiency, fetal distress, pre-eclampsia, and HELLP syndrome. Herein, we review the different aspects of obstetric APS features, with special emphasis on its life-threatening variant known as catastrophic APS (Asherson's syndrome) and its relationship with a thrombotic microangiopathy such as HELLP syndrome. PMID:19052924

Gómez-Puerta, Jose A; Sanin-Blair, Jose; Galarza-Maldonado, Claudio

2009-06-01

443

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

2010-01-01

444

Psychological Syndromes and Criminal Responsibility  

Microsoft Academic Search

In criminal cases, evidence about psychological syndromes is typically introduced by the defense in support of insanity, self-defense, or imperfect self-defense claims and by the prosecution to show that a criminal act occurred. The admissibility of defense-proffered testimony about phenomena such as battered woman syndrome, combat stress syndrome, or XYY syndrome depends in the first instance on how insanity, self-defense,

Christopher Slobogin

445

Failure Syndrome Students. ERIC Digest.  

ERIC Educational Resources Information Center

Students exhibiting failure syndrome approach assignments with low expectations of success and tend to give up at early signs of difficulty. This Digest delineates the nature of failure syndrome, suggests strategies for coping with failure syndrome students, and discusses how teachers can help. Some students, especially in the early grades, show…

Brophy, Jere

446

Down Syndrome: A Cardiovascular Perspective  

ERIC Educational Resources Information Center

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

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

2009-01-01

447

A Journey with Klinefelter Syndrome  

ERIC Educational Resources Information Center

In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

Cover, Virginia Isaacs

2006-01-01

448

Down Syndrome Myths and Truths  

MedlinePLUS

... unable to form close interpersonal relationships leading to marriage. TRUTH: People with Down syndrome socialize and have meaningful friendships. Some choose to date, form ongoing relationships and marry. MYTH: Down syndrome can never be cured. TRUTH: Research on Down syndrome is ... for Your Family Transition & Beyond Aging Matters Research NDSS en Español ...

449

Autoinflammatory syndromes: diagnosis and management  

Microsoft Academic Search

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

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

2010-01-01

450

Oesophageal atresia and Down syndrome  

Microsoft Academic Search

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our fi nding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher

Sebastiano Bianca; Marco Bianca; Giuseppe Ettore

2002-01-01

451

Pathophysiology of Trousseau's syndrome.  

PubMed

Clinically relevant clotting abnormalities in cancer patients are referred to as Trousseau's syndrome. While thrombotic complications such as venous thromboembolism are most frequent in every day's practice, cancer patients may also experience severe bleeding symptoms due to complex systemic coagulopathies, including disseminated intravascular coagulation, haemolytic thrombotic microangiopathy, and hyperfibrinolysis. The pathophysiology of Trousseau's syndrome involves all aspects of Virchow's triad, but previous basic research has mainly focused on the cellular and molecular mechanisms underlying blood hypercoagulability in solid cancers and haematological malignancies. In this regard, over-expression of tissue factor (TF), the principal initiator of the extrinsic coagulation pathway, by primary tumour cells and increased shedding of TF-bearing plasma microparticles are critical to both thrombus formation and cancer progression. However, novel findings on intrinsic contact activation in vivo, such as the release of polyphosphates or DNA by activated platelets and neutrophils, respectively, have pointed to additional pathways in the complex pathophysiology of Trousseau's syndrome. PMID:25403091

Dicke, C; Langer, F

2015-02-10

452

Lemierre’s syndrome  

PubMed Central

Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome. PMID:24152679

2013-01-01

453

[Globozoospermia syndrome: an update].  

PubMed

Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients. PMID:21351535

Sha, Yan-wei; Song, Yue-qiang; Han, Bin

2011-01-01

454

Muir-torre syndrome.  

PubMed

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

Bhaijee, Feriyl; Brown, Alexandra S

2014-12-01

455

Parsonage-Turner Syndrome  

PubMed Central

Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccination. The identification of the syndrome in the postoperative patient remains a challenge as symptoms may easily be attributed to sequelae of surgical positioning, postoperative recovery, or postanesthetic block pain. The purpose of this review is to bring forth salient, identifiable factors which may assist the surgical clinician in identifying the condition sooner. An early and proper diagnosis affords the opportunity to treat the patient accordingly and to the satisfaction of both surgeon and patient. PMID:21886536

Radecki, Jeffrey

2010-01-01

456

The temporal crescent syndrome.  

PubMed

Retro-chiasmal lesions almost always give rise to homonymous field defects with only one exception. The nasal visual field extends to 60% of the horizon, whereas the temporal field extends to a further 30°-40° beyond that; this part of the visual field is represented on the contralateral anterior parieto-occipital sulcus. A lesion in this area will give rise to monocular visual field defect affecting the contralateral eye. This is called the temporal crescent or the half moon syndrome. In this case report, a woman presented with seizures secondary to haemorrhagic infarction of the anterior part of the parieto-occipital sulcus. She later presented with right-sided visual disturbance; her examination confirmed temporal crescent syndrome. I explain the pathophysiology of this rare neurological syndrome in this report. PMID:25416654

Ali, Khalid

2015-02-01

457

[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].  

PubMed

Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Many clinical and biological criteria leads to the diagnosis of type 2 Griscelli syndrome: consanguineous family, recurrent infection, absence of psychomotor retardation, oculocutaneous albinism, silver hair, occurrence of hemophagocytic syndrome and especially the pathognomonic appearance on microscopic examination of the hair. The absence of giant organelles inclusion in all granulated cells eliminated Chediak-Higashi syndrome. PMID:23906575

Jennane, Selim; El Kababri, Maria; Hessissen, Laila; Kili, Amina; Nachef, Mohamed Nacer; Messaoudi, Nezha; Doghmi, Kamal; Mikdame, Mohamed; El Khorassani, Mohamed; Khattab, Mohamed

2013-01-01

458

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

PubMed Central

Summary Germline mutations of BRCA1 predispose women to breast and ovarian cancers. However, the downstream mediators of BRCA1 function in tumor suppression remain elusive. We found that human BRCA1-associated breast cancers have lower levels of SIRT1 than their normal controls. We further demonstrated that mammary tumors from BRCA1 mutant mice have low levels of SIRT1 and high levels of Survivin, which is reversed by induced expression of BRCA1. BRCA1 binds to the SIRT1 promoter and increases SIRT1 expression, which in turn inhibits Survivin by changing the epigenetic modification of histone H3. Absence of SIRT1 blocks the regulation of Survivin by BRCA1. Furthermore, we demonstrated that activation of SIRT1 and inhibition of Survivin expression by resveratrol elicit a more profound inhibitory effect on BRCA1-mutant cancer cells than on BRCA1-wild type cancer cells both in vitro and in vivo. These findings suggest that resveratrol treatment serves as an excellent strategy for targeted therapy for BRCA1-associated breast cancer. PMID:18851829

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

2008-01-01

459

[Periodic abstinence: its possibilities].  

PubMed

Experience with family planning mehods requiring periodic sexual abstinence has been varied. During the last decade interest has centered on 2 methods, the cervical mucus and the sympto-thermal, which are based on identifying the onset of the fertile period. During the 1970s, the Australian physicians John and Evelyn Billings developed the cervical mucus method, in which changes in the quanitity and characteristics of cervical mucus are used to determine the moment of ovulation. The sympto-thermal method depends on identification of the slight rise in basal body temperature that occurs in the latter part of the menstrual cycle as well as cervical mucus changes and sometimes the calendar to determine the fertile period. The Catholic Church has been the main proponent of periodic abstinence methods, but since 1973 the World Health Organization has invested US$3.3 million on research in such methods. The Billings method requires differentiating between dry, wet, and very wet mucus in the vagina and between different consistencies of mucus. The method ususally requires 1-3 months for instruction and sexual abstinence is usually recommended for the 1st month. The average number of days of required abstinence was 9 in a study of 66 women and 15-18 in a study of 870 women. Many women with short menstrual cycles do not experience postmenstrual dry days, in which case abstinence may be required as many as 13 days out of 23. 18.8% of users of periodic abstinence methods in 1 North American study became pregnant in the 1st year, but most were using the calendar method. Women who desired to terminate childbearing had only about 1/2 as many failures with periodic abstinence methods as did women wishing to postpone a birth. PMID:12311397

1981-05-01

460

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.

461

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.

462

Challenging pain syndromes: Parsonage-Turner syndrome.  

PubMed

Parsonage-Turner syndrome (PTS) is a rare disorder typically characterized by an abrupt onset of upper extremity pain followed by progressive neurologic deficits, including weakness, atrophy, and occasionally sensory abnormalities. The exact cause and pathophysiology of PTS are complex and incompletely understood. Autoimmune, genetic, infectious, and mechanical processes have all been implicated. No specific treatments have been proven to reduce neurologic impairment or improve the prognosis of PTS. Most patients with PTS are treated with a multidisciplinary approach that includes both physical therapy and pharmacologic treatment, often with multiple agents. Further research is needed. PMID:24787332

Smith, Clark C; Bevelaqua, Anna-Christina

2014-05-01

463

Management of Antiphospholipid Syndrome  

PubMed Central

The antiphospholipid syndrome (APS) is an autoimmune disorder presenting with tissue injury in various organs related to large- or small-vessel thrombosis associated with antiphospholipid and antiprotein/phospholipid complex antibodies. Although the pathophysiology, diagnosis, and clinical scenario may seem clear and straightforward, a more detailed examination reveals a more complex and uncertain picture related to the management of APS. This article reviews the current situation relating to APS therapy by evaluating the different clinical features of the syndrome ranging from thrombosis to pregnancy complications together with new strategies and pharmacological approaches. PMID:22870449

Del Papa, Nicoletta; Vaso, Nikoleta

2010-01-01

464

Understanding Thoracic Outlet Syndrome  

PubMed Central

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

Freischlag, Julie

2014-01-01

465

Plummer-Vinson syndrome.  

PubMed

Plummer-Vinson syndrome is characterized by dysphagia, iron deficiency, anemia and the presence of esophageal web or webs. Two cases of this syndrome are reported in middle-aged women, which were treated over the last eight years. Both patients presented with dysphagia, anemia, sideropenia, glossitis and cheilitis. Radiological examination of the pharynx showed the presence of webs in both cases. The patients were treated with iron supplementation, which resulted in elimination of the symptoms. Both patients remain in good general condition and without any dysphagic complaints, 5 and 8 years after the diagnosis, respectively. PMID:12823219

Atmatzidis, K; Papaziogas, B; Pavlidis, T; Mirelis, Ch; Papaziogas, T

2003-01-01

466

Treacher Collins Syndrome  

PubMed Central

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

Chang, Christopher C.; Steinbacher, Derek M.

2012-01-01

467

Understanding thoracic outlet syndrome.  

PubMed

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

Freischlag, Julie; Orion, Kristine

2014-01-01

468

Spontaneous Thigh Compartment Syndrome  

PubMed Central

A young man presented with a painful and swollen thigh, without any history of trauma, illness, coagulopathic medication or recent exertional exercise. Preliminary imaging delineated a haematoma in the anterior thigh, without any fractures or muscle trauma. Emergent fasciotomies were performed. No pathology could be identified intra-operatively, or on follow-up imaging. A review of thigh compartment syndromes described in literature is presented in a table. Emergency physicians and traumatologists should be cognisant of spontaneous atraumatic presentations of thigh compartment syndrome, to ensure prompt referral and definitive management of this limb-threatening condition. PMID:21691491

Khan, Sameer K.; Thati, Srinivas; Gozzard, Charles

2011-01-01

469

Antiphospholipid syndrome: an overview.  

PubMed

Antiphospholipid antibodies are a heterogeneous group of autoantibodies that are detected by immunoassays and functional coagulation tests. The antigenic targets are negatively charged phospholipids and serum phospholipid-binding proteins. The latter antibodies are frequently associated with thrombosis, fetal loss and other clinical manifestations of the antiphospholipid syndrome. These antibodies are felt to be etiologically important in the syndrome, although the precise pathogenic mechanisms are still being determined. Proposed mechanisms include antibody-mediated interference with coagulation homeostasis, activation of platelets and endothelial cells and a T-cell immune response to serum phospholipid-binding proteins. The mainstay of therapy is anticoagulation, whereas immunosuppression is ineffective. PMID:12821621

Hanly, John G

2003-06-24

470

The slipping rib syndrome.  

PubMed

The slipping rib syndrome is a cause of upper abdominal pain that is not widely known, possibly because of failure of recognition rather than infrequent occurrence. The syndrome should be suspected when pain can be reproduced by a rib-hooking maneuver. However, a thorough evaluation including intercostal nerve blocks is necessary both to eliminate coexistent gastrointestinal and psychiatric disorders as a cause of pain and to assure adequate treatment and a good prognosis. Patients with obvious slipping ribs appear to benefit from surgical excision. PMID:6639342

Spence, E K; Rosato, E F

1983-11-01

471

The telomere syndromes  

PubMed Central

There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes. PMID:22965356

Armanios, Mary; Blackburn, Elizabeth H.

2013-01-01

472

Van der Woude syndrome- a syndromic form of orofacial clefting  

PubMed Central

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting. PMID:24558537

Sudhakara Reddy, R.; Ramesh, T.; Lavanya Reddy, R.; Swapna, L A.; Rajesh Singh, T.

2012-01-01

473

Discovery of severe fever with thrombocytopenia syndrome bunyavirus strains originating from intragenic recombination.  

PubMed

This study analyzes available severe fever with thrombocytopenia syndrome virus (SFTSV) genomes and reports that a sublineage of lineage I bears a unique M segment recombined from two of three prevailing SFTSV lineages. Through recombination, the sublineage has acquired nearly complete G1 associated with protective epitopes from lineage III, suggesting that this recombination has the capacity to induce antigenic shift of the virus. Therefore, this study provides some valuable implications for the vaccine design of SFTSV. PMID:22933273

He, Cheng-Qiang; Ding, Nai-Zheng

2012-11-01

474

Prognostic Factors in Myelodysplastic Syndromes  

PubMed Central

ABSTRACT Background: Myelodysplastic syndromes (MDS) are clonal disorders of hematopoietic stem cell and are characterized by ineffective hematopoiesis with normo- or hyper cellular bone marrow and cytopenia(s).The natural evolution of the disease consists of bone marrow failure (leading to infectious and hemorrhagic episodes or anemia related complications) and transformation to acute myeloid leukemia. Because MDSs display remarkable clinical, pathologic, and cytogenetic heterogeneity, with variable evolution and survival ranging from months to years, the predictive factors of prognosis have a key role in optimal therapeutic decisions. The purpose of this paper is to analyze prognostic factors within a group of patients diagnosed with myelodysplastic syndromes. The prognostic factors taken into account are: the number and depth of cytopenias, percentage of bone marrow blasts, cytogenetic abnormalities, intensity of anemia and transfusional dependence. These factors are related to overall survival, leukemia free survival, bone marrow failure complications, leukemic evolution, treatment decisions and the response to treatment. Material and method: The study group comprises of 119 patients diagnosed with de novo MDS, between 2008 and 2011 in the Hematology Department of Coltea Clinical Hospital. In this monitoring period the patients were stratified according to the FAB (French-American-British) morphologic classification. Results: This study revealed that the outcomes of patients with MDS is influenced by the percentage of bone marrow blasts at diagnosis, the number and severity of hematopoietic lineage affected by cytopenia and by the presence of chromosomal abnormalities. Conclusions: The studied prognostic factors have predictive value in terms of survival, leukemic transformation, treatment response and development of bone marrow failure-related characteristic complications. PMID:23483702

TRIANTAFYLLIDIS, Irina; CIOBANU, Anca; STANCA, Oana; LUPU, Anca Roxana

2012-01-01

475

Atypical aging in Down syndrome.  

PubMed

At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging. From 1979 through 2003, the birth prevalence of DS rose from 9.0 to 11.8 (31.1%) per 10,000 live births in 10 representative US regions. This increase, largely due to women conceiving after age 35, portends an ever-growing population of people with DS who may be subject to pathogenic aging. Whereas Trisomy 21 is one of the most widespread genetic causes of intellectual disability (ID), it still is one of the least understood of all genetic ID syndromes. While longevity in people with DS has improved appreciably in as modest a period as 30 years, age-specific risk for mortality still is considerably increased compared both with other people with ID or with the typically developing population. The penetrance of the phenotype is widely distributed, even though a consistent genotype is assumed in 95% of the cases. Some, but not all body systems, exhibit signs of premature or accelerated aging. This may be due to both genetic and epigenetic inheritance. We now know that the long-term outcome for people with DS is not as ominous as once contemplated; a number of people with DS are living into their late 60s and 70s with few if any major signs of pathogenic aging. Alzheimer's disease (AD), a devastating disease that robs a person of their memory, abilities and personality, is particularly common in elder adults with DS, but is not a certainty as originally thought, some 20% to 30% of elder adults with DS might never show any, or at most mild signs of AD. DS has been called a mature well-understood syndrome, not in need of further research or science funding. We are only beginning to understand how epigenetics affects the phenotype and it may be feasible in the future to alter the phenotype through epigenetic interventions. This chapter is divided into two sections. The first section will review typical and atypical aging patterns in somatic issues in elder adults with DS; the second section will review the multifaceted relationship between AD and DS. PMID:23949829

Zigman, Warren B

2013-08-01

476

Clinical spectrum of infantile scimitar syndrome: A tertiary center experience  

PubMed Central

Aim: Infantile scimitar syndrome is a rare condition, with most of the literature reports being limited to case reports and a few case series. The aim of this study was to review patients with infantile scimitar syndrome who presented to our hospital from July 2000 to January 2011. Materials and Methods: In this retrospective study, we evaluated the medical records of patients aged 0–14 years who were symptomatic before the age of 1 year and were subsequently diagnosed with the syndrome. A total of 16 patients with the infantile form of scimitar syndrome were identified from the database. Results: The median age at presentation was 14 days, with a median age at diagnosis of 55 days. Fifty-six percent of the patients were females. Tachypnea was the major presenting symptom and 13 out of 16 patients had pulmonary hypertension. Of the 13 patients with pulmonary hypertension, 7 had systemic collaterals, which were treated by coil occlusion together with medications, and 3 had corrective surgery. The mortality rate was 3/16 (18.8%) over the 10.5 years study period. Conclusions: Infantile scimitar syndrome is a rare congenital anomaly that needs a high degree of suspicion for early referral and management. The association of the syndrome with pulmonary hypertension leads to recurrent and prolonged hospitalization. PMID:24701082

Al Rukban, Hadeel; Al Ghaihab, Mohammed; Tamimi, Omar; Al-Saleh, Suhail

2014-01-01

477

Aortopathy in the 7q11.23 microduplication syndrome.  

PubMed

The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is elastin (ELN), implicated as the cause of supravalvar aortic stenosis in patients with Williams-Beuren syndrome. Here we present a series of eight pediatric patients and one adult with 7q11.23 microduplication syndrome, all of whom had aortic dilation, the opposite vascular phenotype of the typical supravalvar aortic stenosis found in Williams-Beuren syndrome. The ascending aorta was most commonly involved, while dilation was less frequently identified at the aortic root and sinotubular junction. The findings in these patients support a recommendation for cardiovascular surveillance in patients with 7q11.23 microduplication syndrome. © 2014 Wiley Periodicals, Inc. PMID:25428557

Parrott, Ashley; James, Jeanne; Goldenberg, Paula; Hinton, Robert B; Miller, Erin; Shikany, Amy; Aylsworth, Arthur S; Kaiser-Rogers, Kathleen; Ferns, Sunita J; Lalani, Seema R; Ware, Stephanie M

2015-02-01

478

A new patient with LACHT syndrome (Mardini-Nyhan association).  

PubMed

LACHT syndrome, Lung Agenesis, Congenital Heart defects, and Thumb anomalies, (Mardini-Nyhan Association OMIM #601612) is a rare condition characterized by unilateral or bilateral lung agenesis, complex cardiac defects, especially anomalous pulmonary venous return, and thumb anomalies. Based on previous cases, its inheritance pattern seems to be autosomal recessive. In 1985, the syndrome was firstly described by Mardini and Nyhan in four patients from unrelated families. Until now, a total of eight patients have been reported in the literature. Molecular cause of the disease is still unknown. Here, we report on a patient with LACHT syndrome diagnosed by clinical findings. In this study, we present a 4.5-month-old female infant with right lung agenesis and inguinal hernia, in which ovaries are revealed on ultrasonography. The infant was born to consanguineous parents following a 38th week of gestation, with a birth weight of 2,800?g. Overall development was consistent with age; she had thumb abnormalities. Echocardiography showed peripheral pulmonary stenosis. The girl was diagnosed as LACHT syndrome based on the findings of unilateral lung agenesis, thumb anomalies, and peripheral pulmonary stenosis. LACHT syndrome should be considered in the differential diagnosis of patients with unilateral or bilateral lung agenesis. Here, we report on the 9th case in the literature. The consanguinity of the parents supports autosomal inheritance as the genetic basis of LACHT syndrome. © 2014 Wiley Periodicals, Inc. PMID:25487726

Atik, Tahir; Torun, Huseyin Ozan; Cogulu, Ozgur; Ozkinay, Ferda

2015-02-01

479

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome  

PubMed Central

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

2012-01-01

480

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

ERIC Educational Resources Information Center

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

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

2000-01-01

481

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

Microsoft Academic Search

Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five experiments assessed number skills in these two genetic syndromes and in their mental age (MA)

Sarah J. Paterson; Luisa Girelli; Brian Butterworth; Annette Karmiloff-Smith

2006-01-01

482

[Acute colonic pseudoobstruction: Ogilvie's syndrome].  

PubMed

Based on literature and own original clinical data authors conclude that Ogilvie's syndrome is the form of dynamic obstruction of colon due to lesion of retroperitoneal neural nodes, heart failure and intoxication. Ogilvie's syndrome complicates therapeutic and surgical diseases. This syndrome can be manifested with acute abdomen symptoms and at 22% cases may be the cause of surgical treatment. Ogilvie's syndrome is successfully treated with evacuation of intestinal contents, but the risk of recurrence after this treatment is high. Ethiotropic therapy, correction of water-electrolytic balance and tissues oxygenation, administration of acetylcholinesterase inhibitors are the more effective treatment of this syndrome. PMID:17690630

Trenin, S O; Shishkov, A V; Maslennikov, V A; Keropian, O K

2007-01-01

483

The Cretaceous Period  

Microsoft Academic Search

A QUARTER of a century ago, when first I began to study geology, it appeared to me that a predominance was given to the more recent rocks, such as the Pleistocene, Miocene, Eocene, Cretaceous, and the like, to which they were not entitled, when ranked as periods alongside such great groups as the Carboniferous the Silurian, the Cambro-silurian, and the

G. Henry Kinahan

1871-01-01

484

Astrophysical implications of periodicity  

NASA Technical Reports Server (NTRS)

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

Muller, Richard A.

1988-01-01

485

Current Periodical Literature.  

ERIC Educational Resources Information Center

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

Haberer, Joseph, Ed.

1990-01-01

486

Periodic Table of Students.  

ERIC Educational Resources Information Center

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

Johnson, Mike

1998-01-01

487

A Modern Periodic Table.  

ERIC Educational Resources Information Center

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

Herrenden-Harker, B. D.

1997-01-01

488

Getting Your Period  

MedlinePLUS

... for a woman to have a baby. During sexual intercourse, the egg can get fertilized by a male’s sperm and then attach to the lining of the uterus ( endometrium ) and grow into a baby. ( Read more about reproduction. ) Does your period come each month? top Menstrual ...

489

Ayurveda during Abbasid's period.  

PubMed

This is a historical paper which deals with a brief account of Abbasid's period. In this article the existence of Ayurveda in Arab countries, arrival of Ayurvedic physicians to Baghdad, their eminence, authenticity and literary additions in medical field has been studied and presented. PMID:12578013

Husain, S A; Subhaktha, P K

2000-01-01

490

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.

491

MADS for periodic variables  

E-print Network

May 19, 2009 ... We show that the natural strategy of mapping trial points into the interval defined by the period in the Mesh Adaptive Direct ... mooth classification problem and on a bi-objective portfolio selection problem for which MADS is.

Sébastien Le Digabel

2009-05-19

492

Microduplications of 1q32.1 associated with neurodevelopmental delay  

PubMed Central

Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay.[1–11] To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two microduplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome. PMID:22266072

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

2012-01-01

493

Drug-Induced Hematologic Syndromes  

PubMed Central

Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications. PMID:19960059

Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren

2009-01-01

494

Currarino syndrome and spinal dysraphism.  

PubMed

Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele. PMID:24745342

Kole, Matthew J; Fridley, Jared S; Jea, Andrew; Bollo, Robert J

2014-06-01

495

Rothmund-Thomson syndrome  

Microsoft Academic Search

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

Lidia Larizza; Gaia Roversi; Ludovica Volpi

2010-01-01

496

Sudden Infant Death Syndrome.  

ERIC Educational Resources Information Center

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

Barnett, Henry L.; And Others

497

Amniotic band syndrome.  

PubMed

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

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

2013-10-01

498

Burning Mouth Syndrome  

MedlinePLUS

... problem) ? Allergies to dental products, dental materials (usually metals), or foods ? Dry mouth, which can be caused by certain disorders (such as Sjögren’s syndrome) and treatments (such as certain drugs and radiation therapy) ? Certain medicines, such as those that reduce blood pressure ? Nutritional ...

499

Eyes in arhinencephalic syndromes.  

PubMed Central

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

Karseras, A G; Laurence, K M

1975-01-01

500

Munchausen’s Syndrome  

PubMed Central

Although the differential diagnosis of hemoptysis is extensive, consideration of a factitious cause is rarely contemplated. Factitious hemoptysis is uncommon in children. We report a dramatic case of factitious hemoptysis in a 12-year-old girl. The features of Munchausen’s syndrome are also reviewed.

Alt?nkaynak, Sevin; Ertekin, Vildan; Alp, Handan; Fidan, Tülin

2009-01-01