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1

[Cryopyrin-associated periodic syndrome].  

PubMed

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

Kümmerle-Deschner, J B

2012-04-01

2

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.  

PubMed

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. PMID:25711261

Uysal, Berfin; Dönmez, Osman; Uysal, Fahrettin; Akac?, Okan; Vuru?kan, Berna Aytaç; Berdeli, Afig

2015-02-01

3

Cryopyrin-associated periodic syndrome.  

PubMed

CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Genetic testing has allowed for grouping of the three, previously distinct clinical syndromes of FCAS, MWS and NOMID, into a single syndrome termed CAPS. The clinical features include urticarial rash and fever, CNS and musculoskeletal involvement, ocular disorders and progressive deafness. Onset, severity and complications (mainly retardation, seizures, destructive arthropathy and amyloidosis) depend on the specific mutation. Diagnosis is determined by genetic tests but is often delayed due to lack of awareness. In Israel, the relative abundance of other autoinflammatory disorders (FMF, Behçet's disease) may result in misdiagnosis. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis. PMID:25438464

Giat, Eitan; Lidar, Merav

2014-10-01

4

Cryopyrin-associated periodic syndrome.  

PubMed

CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Genetic testing has allowed for grouping of the three, previously distinct clinical syndromes of FCAS, MWS and NOMID, into a single syndrome termed CAPS. The clinical features include urticarial rash and fever, CNS and musculoskeletal involvement, ocular disorders and progressive deafness. Onset, severity and complications (mainly retardation, seizures, destructive arthropathy and amyloidosis) depend on the specific mutation. Diagnosis is determined by genetic tests but is often delayed due to lack of awareness. In Israel, the relative abundance of other autoinflammatory disorders (FMF, Behçet's disease) may result in misdiagnosis. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis. PMID:25507981

Giat, Eitan; Lidar, Merav

2014-10-01

5

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 ...

6

Cryopyrin-associated periodic syndromes and autoinflammation.  

PubMed

Autoinflammatory syndromes are a distinct class of inherited diseases of cytokine dysregulation with important cutaneous features. Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1. These disorders are now believed to represent related conditions along a spectrum of disease severity, in which FCAS is the mildest and NOMID is the most severe phenotype. Patients typically present with lifelong atypical urticaria with systemic symptoms, with potential for developing end-organ damage due to chronic inflammation. Advances in the understanding of the genetic basis of these syndromes have also revealed cytokine signalling molecules that are critical to normal regulation of inflammatory pathways. The dramatic response of these syndromes to anakinra, an interleukin (IL)-1 antagonist, highlights the important role of IL-1 cytokine signalling in the pathogenesis of this rare but fascinating class of diseases. PMID:17927785

Shinkai, K; McCalmont, T H; Leslie, K S

2008-01-01

7

[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].  

PubMed

Cryopyrin-associated periodic syndrome is a rare hereditary periodic fever syndrome for which, the genetic mechanism, mutation in the NLRP3 gene, has allowed to gather 3 clinical phenotypes (familial cold urticaria [FCAS], Muckle-Wells syndrome [MWS], and chronic infantile neurological cutaneous and articular syndrome [CINCA]) initially described independently, and to discover the NLRP3 inflammasome, a key receptor of the innate immunity, which regulates the interleukine-1? secretion into the mononuclear cells. The clinical manifestation of CAPS : urticaria-like skin rash, eyes redness, myalgia and sensory deafness are not specific, if considered separately, and that often leads to a wandering diagnosis through a complex medical journey including various specialists. The diagnostic delay is deleterious to patients compromising their quality of life and exposing them to neurosensory complications and renal failure by secondary amyloidosis. The paediatric onset of disease, the family history, the trigger of symptoms by the cold, and the recognition of the skin rash as neutrophilic are important clues before diagnostic confirmation by genetic testing. Interleukine-1 blockade is the only effective treatment of CAPS symptoms which often may stabilize (rarely regression) the sensory involvement and in some cases may allow the regression of secondary amyloidosis. PMID:25595876

Koné-Paut, I

2015-04-01

8

Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome  

Microsoft Academic Search

Background The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with overproduction of interleukin-1. Canakinumab is a human anti-interleukin-1? monoclonal antibody. Methods We performed a three-part, 48-week, double-blind, placebo-controlled, randomized withdrawal study of canakinumab in patients with CAPS. In part 1, 35 patients re- ceived 150 mg of canakinumab subcutaneously. Those with a complete response to treatment

Helen J. Lachmann; Isabelle Kone-Paut; Jasmin B. Kuemmerle-Deschner; Kieron S. Leslie; Eric Hachulla; Pierre Quartier; Xavier Gitton; Albert Widmer; Neha Patel; Philip N. Hawkins

2009-01-01

9

Canakinumab for the treatment of cryopyrin-associated periodic syndromes.  

PubMed

Familial cold-induced autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease make up cryopyrin-associated periodic syndromes (CAPS). These are autoinflammatory inherited disorders caused by autosomal dominant gain-of-function mutations in the NLRP3 gene, located on chromosome 1q44. Cryopyrin/NALP3/NLRP3 is an essential component of intracellular inflammasomes that activate caspase-1, which in turn converts interleukin-1beta (IL-1beta) to its active form. IL-1beta is a potent cytokine that activates diverse elements of the immune and inflammatory systems leading to the pathogenic changes characteristic of CAPS. There is therefore much interest in the development of IL-1beta blocking agents as novel biologic treatments for these conditions. Canakinumab (ACZ-885; Ilaris, Novartis Pharma) is a fully humanized monoclonal antibody (mAb) specific for IL-1beta and is indicated for a wide range of inflammatory disorders including CAPS. This review will assess the utility of canakinumab as a treatment for CAPS. PMID:20069137

Walsh, Garry M

2009-10-01

10

[Periodic fever due to hyper-IgD syndrome].  

PubMed

In a 45-year-old man who from early childhood had been suffering of periodic fever, which did not respond to any therapy attempted, the ultimate diagnosis was hyperimmunoglobulinaemia D syndrome (HIDS). HIDS attacks typically occur every 4-6 weeks and last 3-7 days. The most frequent symptoms are fever, diarrhoea, arthralgias, cold shivers, abdominal pain, vomiting and headache. Physical examination often reveals lymphadenopathy, skin lesions, arthritides, splenomegaly and serositis. Laboratory investigation includes an acute-phase response with granulocytosis and enhanced erythrocyte sedimentation rate. The serum concentration of IgD is increased as is the concentration of IgA. There is no causal therapy. A causative gene mutation was recently identified. PMID:10800552

Wauters, I M; Linskens, R K; Stehouwer, C D

2000-04-22

11

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

Microsoft Academic Search

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

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

2010-01-01

12

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

13

Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).  

PubMed

Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling Andersen-Tawil syndrome. PMID:23767205

Thakkar, Mitesh; Biswas, T K; Desle, Hrishikesh B

2012-11-01

14

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

Microsoft Academic Search

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

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

1998-01-01

15

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

PubMed

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

Purpura, Giulia; Bozza, Margherita; Bargagna, Stefania

2014-10-01

16

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

PubMed

Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, inherited autoinflammatory disorders associated with aberrant secretion of interleukin (IL)-1. These distinct conditions of autoinflammatory origin include Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and neonatal-onset multisystem inflammatory disease (NOMID), which is also referred to as chronic infantile neurologic cutaneous and articular syndrome. Recently, this group of diseases has been associated with mutations in the NLRP3 gene that encodes for the protein cryopyrin, a component of the inflammasome complex that regulates the maturation and secretion of inflammatory cytokine IL-1?. Immune cells from patients with NOMID secrete higher levels of active IL-1? compared with monocytes from healthy subjects. Overproduction of IL-1 is believed to promote aberrant inflammatory response in CAPS patients. Evidence supporting the clinical value of IL-1? in CAPS has been provided from the complete response of patients after treatment with IL-1 blocking agents. PMID:23776364

Dhimolea, Eugen

2011-01-01

17

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

18

Clinical Immunology Review Series: An approach to the patient with a periodic fever syndrome  

PubMed Central

The periodic fever syndromes are disorders of innate immunity. They may be inherited or acquired and present as recurrent attacks of apparently spontaneous self-limiting inflammation without evidence of autoantibodies or infection. Over the past decade-and-a-half there has been significant progress in their understanding and treatment. PMID:21736563

Lachmann, H J

2011-01-01

19

Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response.  

PubMed

Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS. Diagnosis is often delayed and requires a thorough review of clinical symptoms. Remarkable advances in our understanding of the genetics and the molecular pathway that is responsible for the clinical phenotype of CAPS has led to the development of effective treatments. It also has become clear that the NLRP3 inflammasome plays a critical role in innate immune defense and therefore has wider implications for other inflammatory disease states. PMID:21104172

Yu, Justin R; Leslie, Kieron S

2011-02-01

20

Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.  

PubMed

Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1?. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1? monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1? monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome. PMID:25349319

Kanariou, Maria; Tantou, Sofia; Varela, Ioanna; Raptaki, Maria; Petropoulou, Chrissa; Nikas, Ioannis; Valari, Manthoula

2014-11-01

21

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

Microsoft Academic Search

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

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

1986-01-01

22

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

23

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

PubMed

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

Kuemmerle-Deschner, Jasmin B; Haug, Iris

2013-12-01

24

Ocular manifestations of the autoinflammatory syndromes.  

PubMed

The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-associated periodic syndromes (CAPS) such as neonatal onset multisystem inflammatory disease (NOMID), familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), periodic fever syndromes, including familial Mediterranean fever (FMF), TNF receptor-1 associated periodic syndrome (TRAPS), and Blau syndrome. Ocular manifestations are frequent and diverse in affected patients, and visual impairment and blindness are not uncommon sequelae of chronic active disease. Novel therapeutic interventions targeting specific pathophysiologic mechanisms have been extremely promising in the treatment of these disorders. The purpose of this article is to provide a review of these disorders with a focus on pathogenesis, clinical manifestations, ophthalmologic involvement, and available treatment options. PMID:22924780

Tarabishy, Ahmad Bakir; Hise, Amy G; Traboulsi, Elias I

2012-12-01

25

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

PubMed

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

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

2003-12-01

26

Tumor necrosis factor receptor-associated periodic syndrome managed with the couple canakinumab-alendronate.  

PubMed

Management of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is puzzling, and therapeutic choices can be complicated, due to both wide genetic heterogeneity and protean clinical phenotype. We report on a 35-year-old female who was diagnosed with TRAPS, after finding the V95M mutation on the TNFRSF1A gene; who was treated in order with etanercept, anakinra, and canakinumab (150 mg/every 8 weeks by subcutaneous injection, then increased to 150 mg every 4 weeks); and who started therapy with oral alendronate (70 mg/weekly) to control her osteoporosis. Alendronate combined with canakinumab led to the optimal clinical control of all TRAPS manifestations and normalization of inflammatory markers. Further studies should be performed to clarify bisphosphonates' role in the scenery of autoinflammatory disorders. PMID:24609716

Lopalco, Giuseppe; Rigante, Donato; Vitale, Antonio; Frediani, Bruno; Iannone, Florenzo; Cantarini, Luca

2015-04-01

27

Cyproheptadine treatment of Nelson's syndrome: restoration of plasma ACTH circadian periodicity and reversal of response to TRF.  

PubMed

Administration of cyproheptadine for four months to a patient with Nelson's Syndrome was associated with evidence of skin lightening, decreased plasma ACTH concentrations, return of a normal circadian periodicity of plasma ACTH concentrations, and lack of responsiveness of plasma ACTH concentrations to TRF administration, in contrast to the response seen in the untreated state. PMID:220278

Krieger, D T; Condon, E M

1978-02-01

28

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome in Iranian Children First Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)  

PubMed Central

Objective: The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a nonhereditary idiopathic febrile syndrome belonging to the group of autoinflammatory diseases. No longtime sequel was reported in this disease. Early diagnosis can lead physicians to treatment of this disorder with a short course steroid application and provide satisfaction of the patient’s family. Methods: This study is a prospective review of patients diagnosed with PFAPA syndrome who were registered in Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR) through periodic fever clinic in the Children's Medical Center, Pediatric Center of Excellence in Tehran, Iran from January 2013 to March 2014. Findings: One hundred thirty patients were registered in our databases. Twenty-one (16.1%) patients including 15 males and 6 females had PFAPA. Normal growth was seen in all patients. The median age at onset was 18 months. The mean duration of fever was 4 days and the mean duration of intervals between fever episodes 21 days. Along with fever, all patients had characteristic symptoms. All patients were asymptomatic between fever episodes. Steroid was used in all patients and causing immediate reduction by 84.61%. Two patients received both steroid and colchicine because of their clinical feature and positive laboratory tests for PFAPA and familial Mediterranean fever. No patient received biological therapy or a tonsillectomy. Conclusion: The long diagnostic delay of PFAPA gives cause to concern indicating a need for greater awareness of the disease so that the diagnosis may be made timely.

Mehregan, Fatemeh Fereshteh; Ziaee, Vahid; Ahmadinejad, Zahra; Tahghighi, Fatemeh; Sabouni, Farah; Moradinejad, Mohamad-Hassan

2014-01-01

29

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

PubMed

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

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

2012-01-01

30

Circadian rhythm of periodic limb movements and sensory symptoms of restless legs syndrome.  

PubMed

The symptoms of restless legs syndrome (RLS) worsen while patients are sitting or lying and also worsen at night. The current study was designed to determine if the periodic limb movements (PLMs) and sensory symptoms of RLS are modulated by an independent circadian factor. We recorded sleeping and waking PLMs and waking sensory symptoms in eight volunteers with RLS for 3 successive nights and days, starting with a polysomnographic recording of 2 nights, followed by a third night of sleep deprivation and the day after sleep deprivation. This study showed that both the PLMs and sensory symptoms were worst at night with a maximum for both between midnight and 1:00 AM and a minimum between 9:00 and 11:00 AM. Sleep and drowsiness had a tendency to worsen PLMs and sensory symptoms after the night of sleep deprivation. Circadian temperature curves were normal in all four patients with adequate data collection. The highest PLM counts occurred on the falling phase of the circadian temperature curve whereas the lowest PLM counts occurred on the rising phase of the curve. We conclude that the PLM and sensory symptoms in RLS are influenced by a circadian rhythm, and that the "worsening at night" criterion of the RLS Definition Criteria is, at least in part, distinct from the "worsening while lying or sitting" criterion. PMID:9918351

Trenkwalder, C; Hening, W A; Walters, A S; Campbell, S S; Rahman, K; Chokroverty, S

1999-01-01

31

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

32

Periodicity  

NSDL National Science Digital Library

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

William C. Robertson, Ph.D.

2007-01-01

33

Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap).  

PubMed

Cryopyrin-associated periodic syndromes (CAPS) are a group of inherited inflammatory disorders consisting of familial cold-induced autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome). These rare disorders are associated with heterozygous mutations in the NLRP3 (CIAS1) gene, which encodes the protein NALP3 or cryopyrin, and inflammation driven by excessive production of the cytokine interleukin-1beta (IL-1beta). Amyloidosis is a serious complication with 25% of MWS patients developing amyloidosis, with occasional fatal consequences, whilst up to 20% of CINCA/NOMID patients die from various complications, before reaching the early adulthood. In some CINCA/NOMID adult survivors amyloidosis can also occur. Prior to the discovery of the CIAS1 gene mutations and the advent of IL-1 targeted therapy, treatment was aimed at suppressing inflammation, with limited success. The selective blockade of IL-1beta, with anakinra (IL-1 receptor antagonist), not only provided supportive evidence for the role of IL-1beta in CAPS, but also demonstrated the efficacy of targeting IL-1beta for treatment of these conditions. In February, 2008, 'Orphan Drug' approval from the Food and Drug Administration (FDA) for rilonacept (IL-1 Trap/Arcalyst(), Regeneron Pharmaceuticals, Inc) was given for the treatment of two CAPS disorders, FCAS and MWS in adults and children 12 years and older, making rilonacept the first therapy approved for the treatment of CAPS. PMID:19707454

Church, Leigh D; Savic, Sinisa; McDermott, Michael F

2008-12-01

34

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

35

Malignant nephrosclerosis during pregnancy and in the postpartum period (the uremic hemolytic syndrome).  

PubMed

Histologic, immunohistologic, and ultrastructural features are presented of two cases with malignant nephrosclerosis during pregnancy. Primary malignant nephrosclerosis emerges as a clinical entity which can be distinguished from toxemia of pregnancy in the midtrimester and post partum. The first description of malignant nephrosclerosis dates from 40 years ago, but only a few cases were reported associated with pregnancy. Although disseminated intravascular coagulation seems involved, the morphology is different from that of toxemia. Malignant nephrosclerosis reveals a close similarity to the hemolytic uremic syndrome. Early diagnosis by renal biopsy and proper treatment may prevent a lethal outcome due to progressive failure. PMID:779474

Beller, F K; Intorp, H W; Losse, H; Loew, H; Moenninghoff, W; Schmidt, E H; Grundmann, E

1976-07-01

36

Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement.  

PubMed

A female newborn presented with a congenital urticarial rash that consisted of fluctuating well-demarcated pink or pale reddish macules or slightly raised papules and plaques. In addition, purulent cerebrospinal fluid was present in the absence of evidence of congenital infection. Skin biopsy revealed a sparse infiltrate throughout the entire dermis, including the eccrine adventitia. The infiltrate was composed mostly of neutrophils, but rarely lymphocytes and eosinophils could also be seen. No vasculitis was present. Because of the presenting attributes, a diagnosis of cryopyrin-associated periodic syndrome (CAPS) was considered and the neonatal-onset multisystem inflammatory disorder (NOMID) that represents the most severe expression of the CAPS clinical spectrum was favored. Diagnosis was confirmed by identification of a mutation in the cold-induced autoinflammatory syndrome-1 gene and by an observed response to treatment with the interleukin-1 receptor antagonist anakinra. Both the clinical and histopathological findings of the presented case may represent a distinct entity within the spectrum of aseptic neutrophilic dermatitis. We refer to this spectrum as neutrophilic urticarial dermatosis (NUD), which may serve as a cutaneous marker of autoinflammation. NUD with perieccrine involvement should prompt consideration of CAPS, especially NOMID, in the context of neonatal multisystem disease. PMID:21062341

Kolivras, Athanassios; Theunis, Anne; Ferster, Aline; Lipsker, Dan; Sass, Ursula; Dussart, Anneliese; André, Josette

2011-02-01

37

Restless Legs Syndrome 1 Automatic scoring of periodic limb movements using a threshold based algorithm  

E-print Network

Polytechnique de Mons, Mons, 2Sleep Laboratory, CHU Vésale, Montigny-le-Tilleul and 3TCTS Lab, Faculté Polytechnique de Mons, Mons, Belgium Periodic limb movement disorder (PLMD) is a very common disease whose. Pollma¨ cher, An Automatic Method for Scoring Leg Movements in Polygraphic Sleep Recordings and Its

Dupont, Stéphane

38

[Repeated inflammatory pain syndrome in newborn male rats changes adaptive behavior during adolescent period of development].  

PubMed

The study is devoted to the investigation of the effects of the repeated inflammatory pain syndrome of newborn male rat pups at the age of one and two days of life on characteristics of adaptive behaviors in the formalin test, the elevated-plus maze, the forced swim test and also in the swimming pool spatial test in these animals at the age of 25 days. The new data are enhancement of functional activity of the tonic nociceptive system, an increase in depression like behavior, impairment of spatial learning. A priority fact has been obtained that indicates that a short (60 min) repeated maternal deprivation of newborn rat pups (a stressful impact) without inflammatory noxious impact results in changes of the adaptive behaviors in 25-day-old animals. The evaluation of pain patterns organized at different levels of the central nervous system in the formalin test let us to find differences between effects of early painful and stressful impacts on the behavioral indices under study. PMID:25665402

Butkevich, I P; Mikha?lenko, V A; Lavrova, Iu A; Ulanova, N A

2014-11-01

39

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

PubMed

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

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

2009-12-01

40

Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS).  

PubMed

The cryopyrin-associated syndromes (CAPS) include three autosomal-dominant syndromes, that are caused by a mutation in the NLRP3 gene on chromosome 1, encoding the cryopyrin protein. These syndromes, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, fever, central nervous system inflammation, an arthropathy and a risk of the development of amyloidosis in a respectively escalating degree of severity between the various syndromes. Recently the role of cryopyrin in the regulation of interleukin (IL)-1 production and activation was described and anti IL-1 therapies were found to be very effective in treating these syndromes. There are several types of anti IL-1 medications based on different mechanisms of antagonizing IL-1. This paper focuses on the efficacy and safety of canakinumab, a long-acting humanized anti IL-1 antibody, in treating these syndromes. PMID:20531965

Toker, Ori; Hashkes, Philip J

2010-01-01

41

l-Dopa improves Restless Legs Syndrome and periodic limb movements in sleep but not Attention-Deficit-Hyperactivity Disorder in a double-blind trial in children  

Microsoft Academic Search

BackgroundIn a previous open-label study, dopaminergic agents improved Restless Legs Syndrome (RLS) and Periodic Limb Movements in Sleep (PLMS), as well as Attention-Deficit-Hyperactivity Disorder (ADHD) in children with both disorders. We therefore conducted a double-blind placebo-controlled trial of l-DOPA in ADHD children with and without RLS\\/PLMS.

Sandra J. England; Daniel L. Picchietti; Barbara Vera Couvadelli; Barbara C. Fisher; Fouzia Siddiqui; Mary L. Wagner; Wayne A. Hening; Daniel Lewin; Glenna Winnie; Barry Cohen; Arthur S. Walters

2011-01-01

42

Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.  

PubMed

We studied 50 patients (28 male and 22 female) with the hyper-IgD and periodic fever syndrome. Most patients originated from Europe, namely The Netherlands (28 cases; 56%), France (10 cases, 20%), and Italy (3 cases, 6%), but 1 patient was from Japan. A hereditary component is suggested by 18 patients coming from 8 families. The syndrome is typified by a very early age at onset (median, 0.5 years) and life-long persistence of periodic fever. Characteristically, attacks occur every 4-8 weeks and continue for 3-7 days, but the individual variation is large. Attacks feature high spiking fever, preceded by chills in 76% of patients. Lymphadenopathy is commonly present (94% of patients). During attacks, 72% of patients complained of abdominal pains, 56% of vomiting, 82% of diarrhea, and 52% of headache. Joint involvement is common in the hyper-IgD syndrome with poly-arthralgia in 80% and a non-destructive arthritis, mainly of the large joints (knee and ankle), in 68% of patients. Eighty-two percent of patients reported skin lesions with some attacks; these demonstrated vasculitis histologically. Serositis has been seen in only 3 patients (6%), while amyloidosis has not been recorded in any of the patients with this syndrome. Immunizations precipitated attacks in 54% of patients. All patients had a persistently elevated serum IgD level (> 100 U/mL), and in 82% of cases the serum IgA was likewise elevated. During attacks there is an acute-phase response adjudged by leukocytosis, neutrophilia, and increased ESR. The etiology remains to be elucidated, and treatment is supportive. The hyper-IgD syndrome is distinct from other periodic fever syndromes like systemic-onset juvenile rheumatoid arthritis, adult-onset Still disease, and familial Mediterranean fever. PMID:8190036

Drenth, J P; Haagsma, C J; van der Meer, J W

1994-05-01

43

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

PubMed Central

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

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

2013-01-01

44

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

PubMed

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

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

2013-07-01

45

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

PubMed Central

Background: Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN), are the acute emergencies in dermatology practice. Prompt diagnosis and management may reduce the morbidity and mortality in SJS/TEN patients. Early identification of the offending drug is necessary for early withdrawal and to prevent the recurrences of such a devastating illness. Aims To study the demography, offending agents, clinical and laboratory features, treatment, complications, morbidity and mortality of SJS/TEN in our hospital. Materials and Methods: In this retrospective study, we reviewed the medical records of SJS, TEN, SJS/TEN overlap of inpatients over a period of 10 years Results: Maximum number of SJS/TEN cases were in the age group of 11-30 years. Males predominated in the SJS group with a ratio of 1.63:1, whereas females predominated the TEN group with a ratio of 1:2.57.Nonsteroidal anti-inflammatory drugs (NSAIDs) were the commonest group of drugs among the SJS group in 5/21 patients (23.8%). Antimicrobials were the commonest group of drugs causing TEN in 11/25 patients (44%). Mucosal lesions preceded the onset of skin lesions in nearly 50%. Our study had one patient each of SJS/TEN due to amlodipine and Phyllanthus amarus, an Indian herb. The most common morbidity noted in our study was due to ocular sequelae and sepsis leading to acute renal failure respectively. Kaposi's varicelliform eruption was found in three of our patients. Conclusion: Antimicrobials and NSAIDS are the common offending agents of SJS/TEN in our study. PMID:21572786

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

2011-01-01

46

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

47

A pilot study to compare the cerebral hemodynamics between patients with obstructive sleep apnea syndrome (OSA) and periodic limb movement syndrome (PLMS) during nocturnal sleep with near-infrared spectroscopy (NIRS)  

NASA Astrophysics Data System (ADS)

Obstructive sleep apnea syndrome (OSA) and periodic limb movement in sleep syndrome (PLMS) are two common sleep disorders. Previous studies showed that OSA and PLMS share common features, such as increased cardio-vascular risk, both apnea events and limb movements occur periodically, they are usually associated with cortical arousals, and both of them can induce declines in peripheral oxygen saturation measured with pulse oximetry. However, the question whether apnea events and limb movements also show similar characteristics in cerebral hemodynamic and oxygenation has never been addressed. In this pilot study, we will first time compare the cerebral hemodynamic changes induced by apnea events and limb movements in patients with OSA (n=4) and PLMS (n=4) with NIRS. In patients with OSA, we found periodic oscillations in HbO2, HHb, and blood volume induced by apnea/hypopnea events, HbO2 and HHb showed reverse changing trends. By contrast, the periodic oscillations linked to limb movements were only found in HbO2 and blood volume in patients with PLMS. These findings of different cerebral hemodynamics patterns between apnea events and limb movements may indicate different regulations of nervous system between these two sleep disorders.

Zhang, Zhongxing; Schneider, Maja; Laures, Marco; Fritschi, Ursula; Hügli, Gordana; Lehner, Isabella; Qi, Ming; Khatami, Ramin

2014-03-01

48

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.  

PubMed

We describe in this paper the phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS). Patient 1 presented with an urticarial rash and recurrent fever exacerbated by cold weather, arthritis, and anterior uveitis, thus, receiving a clinical diagnosis of familial cold autoinflammatory syndrome. CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease. Patient 2 developed a papular exanthema with daily fever shortly after birth, frontal bossing, patellae enlargement, and cognitive and motor impairments. Sequencing identified the exceedingly rare G755R CIAS1 mutation in exon 4. Patient 3 developed skin rash and articular symptoms 6 h after birth, followed by aseptic meningitis. He was found to have the novel C148Y missense mutation in CIAS1. This report expands the spectrum of CIAS1 mutations associated to clinical disease, suggests that the same mutation can be associated with different clinical syndromes, and supports the evidence that CAPS patients should always be screened for mutations outside exon 3. PMID:18080732

Jesus, Adriana A; Silva, Clovis A; Segundo, Gesmar R; Aksentijevich, Ivona; Fujihira, Erika; Watanabe, Mônica; Carneiro-Sampaio, Magda; Duarte, Alberto J S; Oliveira, João B

2008-03-01

49

Hyperinsulinism in Developmental Syndromes  

Microsoft Academic Search

Hyperinsulinism is a cause of recurrent and severe hypoglycaemia in the newborn and infancy period. Several developmental genetic syndromes are associated with hyperinsulinism. The underlying molecular mechanisms that lead to hyperinsulinaemic hypoglycaemia in most of these syndromes are unclear. Beckwith-Wiedemann syndrome (BWS) is the most common syndrome associated with hyperinsulinism. The incidence of hyperinsulinism in children with BWS is about

Ritika R. Kapoor; Chela James; Khalid Hussain

2009-01-01

50

A case report of idiopathic systemic capillary leak syndrome that occurred during the postoperative period of abdominoperineal resection for colorectal cancer.  

PubMed

A 57-year-old woman without any past medical history underwent abdominoperineal resection for rectal cancer in our department. On postoperative day 15, the patient complained of sudden abdominal pain, and high fever was noted in addition to the appearance of erythema around the stoma. The diagnosis of phlegmon was made, and antibiotic infusion was started. However, a few days later, the patient developed hypovolemic shock with hypoalbuminemia and hemoconcentration. Fasciotomy was performed to exclude the necrotizing fasciitis, though all cultures were negative. Upon exclusion of the differential diagnoses, idiopathic systemic capillary leak syndrome (ISCLS) was diagnosed. She was successfully treated with massive fluid infusion under ventilation and continuous hemodiafiltration. Here, we report the first case of ISCLS that occurred during the postoperative period of colorectal surgery. PMID:25594640

Ozawa, Tsuyoshi; Yamaguchi, Hironori; Kiyomatsu, Tomomichi; Saito, Shinsuke; Ishihara, Soichiro; Sunami, Eiji; Kitayama, Joji; Watanabe, Toshiaki

2015-01-01

51

Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literature.  

PubMed

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to be more common in Western countries than in Asian countries. Here, we present the case of a 14-year-old girl with periodic fever and abdominal pain with elevation of inflammatory markers for 2 years. After extensive work-up of infectious etiology with negative results, the diagnosis of TRAPS was made although no gene mutations were identified in the TNFRSF1A gene, MVK gene, and NALP3/CIAS1 gene. She had partial clinical response to corticosteroids and immunomodulatory agents. However, the treatment response to TNF-? inhibitor etanercept was dramatic. She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS. PMID:22921805

Chen, Yun-Ju; Yu, Hsin-Hui; Yang, Yao-Hsu; Lau, Yu-Lung; Lee, Wen-I; Chiang, Bor-Luen

2014-12-01

52

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

53

Anaesthesia for Kartagener's syndrome.  

PubMed

Kartagener's syndrome is a hereditary syndrome involving a combination of dextrocardia (situs inversus), bronchiectasis and sinusitis, transmitted as an autosomal recessive trait. We describe a patient who had three anaesthetics over a period of a few months. Discussion relates to anaesthetic considerations in the syndrome and to recent findings relating to the molecular mechanisms of left-right development. PMID:11732534

Reidy, J; Sischy, S; Barrow, V

2000-12-01

54

[Asthenic syndrome in clinical course of acute period of brain concussion during complex treatment using nootropic agents].  

PubMed

The comparative analysis of a complex examination of 108 persons aged from 16 till 60 years in acute period of closed craniocerebral injury (CCCT) has been done. Every participants have been divided into 2 groups depending on a nootrop medication they receive in a complex treatment. A control group consisted of 30 practically healthy people. Objective examination by means of tests was done on the 1-st, 10-th that 30-th day of treatment. Patients of 1-st (37 persons) group received piracetam in complex treatment and patients of the 2-nd group (71 persons) pramistar. Patients of the first group received a base treatment (analgetics, tranquilizers, vitamins of group B, magnesium sulfate, diuretic preparations) as well as piracetam at dosage 0.2, two tablets three times per day. The Patients of the 2-nd group received a base treatment as well as pramistar at dosage 0.6, one tablet 2 times per day. Specially developed multiaspects scales and questionnaires, MRT of the brain and EEG have been used for objectification of patient, complaints. During a complex clinico-neuropsychological examination it was found that all cases of concussion of the brain are accompanied by those or other asthenic disorders. PMID:19145827

Tkachov, A V

2008-01-01

55

Narcotic Bowel Syndrome  

MedlinePLUS

... use. The syndrome is characterized by chronic or periodic abdominal pain that gets worse when the effect ... primary feature, other symptoms may include... nausea, bloating, periodic vomiting, abdominal distension, and constipation. Identifying the Condition ...

56

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

PubMed Central

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

2014-01-01

57

HIV1 associated dementia: symptoms and causes  

Microsoft Academic Search

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

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

2006-01-01

58

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  

Microsoft Academic Search

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.

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

2011-01-01

59

Wolff-Parkinson-White syndrome  

MedlinePLUS

Wolff-Parkinson-White syndrome is a condition in which there is an extra electrical pathway of the heart. The condition can ... periods of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common causes ...

60

Mixed ductal-endocrine carcinoma of the pancreas presenting as gastrinoma with Zollinger-Ellison syndrome: an autopsy case with a 24-year survival period  

Microsoft Academic Search

We report an autopsy case of mixed ductal-endocrine carcinoma of the pancreas presenting as gastrinoma with Zollinger-Ellison\\u000a syndrome. A 38-year-old Japanese male was found to have Zollinger-Ellison syndrome and pancreatic gastrinoma, and gastrectomy\\u000a and resection of the pancreatic tumor were performed. However, hypergastrinemia persisted, and the patient died of disseminated\\u000a carcinomatosis at 62 years of age, 24 years after the

Tadashi Terada; Yoshiko Matsunaga; Hiroyuki Maeta; Kanenori Endo; Satoshi Horie; Tetsuo Ohta

1999-01-01

61

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

62

Crush syndrome.  

PubMed

The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

Gonzalez, Dario

2005-01-01

63

Hyperinsulinism in developmental syndromes.  

PubMed

Hyperinsulinism is a cause of recurrent and severe hypoglycaemia in the newborn and infancy period. Several developmental genetic syndromes are associated with hyperinsulinism. The underlying molecular mechanisms that lead to hyperinsulinaemic hypoglycaemia in most of these syndromes are unclear. Beckwith-Wiedemann syndrome (BWS) is the most common syndrome associated with hyperinsulinism. The incidence of hyperinsulinism in children with BWS is about 50%. The hyperinsulinaemic hypoglycaemia can be transient, which, in the majority of infants, will be asymptomatic and resolve within the first few days of life. Rarely patients with BWS may require a pancreatectomy. Other overgrowth syndromes such as Soto's syndrome may overlap with BWS and present with hyperinsulinism. Patients with other rare syndromes such as Costello, Timothy and Kabuki syndromes can present with hyperinsulinaemic hypoglycaemia but the genetic mechanism(s) that leads to dysregulated insulin secretion in these syndromes is(are) still unclear. The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. Hyper-insulinism has been described in congenital disorders of glycosylation, mostly in CDG-Ib but also as the leading symptom in a CDG-Ia patient. In summary, hyperinsulinism may be associated with a large number of developmental syndromes however the underlying molecular mechanisms that cause hyperinsulinism in these syndromes are still unknown. PMID:19293578

Kapoor, Ritika R; James, Chela; Hussain, Khalid

2009-01-01

64

Second-Impact Syndrome  

ERIC Educational Resources Information Center

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

Cobb, Sarah; Battin, Barbara

2004-01-01

65

Polycystic Ovary Syndrome  

MedlinePLUS

What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the following: • Irregular menstrual periods—Menstrual bleeding may be absent, heavy, or unpredictable. • Infertility —PCOS is ...

66

Fanconi syndrome  

MedlinePLUS

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

67

Aicardi Syndrome  

MedlinePLUS

NINDS Aicardi Syndrome Information Page Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? ... being done? Clinical Trials Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare genetic disorder that ...

68

Isaac's Syndrome  

MedlinePLUS

NINDS Isaacs' Syndrome Information Page Synonym(s): Neuromyotonia Table of Contents (click to jump to sections) What is Isaacs' Syndrome? ... is being done? Clinical Trials Organizations What is Isaacs' Syndrome? Issacs' syndrome (also known as neuromyotonia, Isaacs- ...

69

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 ...

70

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients  

PubMed Central

PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

Perko, Daša; Debeljak, Maruša; Toplak, Nataša; Av?in, Tadej

2015-01-01

71

Characterizing organic delusional syndrome.  

PubMed

We present a first comprehensive description of the clinical features of patients with organic delusional syndrome. This description is based on information from 39 patients with organic delusional syndrome among 14,889 patients who presented for initial evaluation over a 5-year period at our institution. This description includes an enumeration of the common clinical symptoms of this syndrome and the respective prevalence and mean severity of each symptom. The severity of the symptoms of organic delusional syndrome are compared with those of schizophrenia to determine which symptoms distinguish between these two diagnostic categories. Patients with organic delusional syndrome demonstrated significantly more symptoms of "acquired intellectual impairment," "impaired sensorium," and "hallucinations of smell, taste, or touch," while schizophrenic patients demonstrated more "flat affect," "emotional coldness," and "thought disorganization." In addition, associated factors are presented concerning demographics, modes of treatment, level of functioning, and current physical problems associated with organic delusional syndrome. PMID:1883259

Cornelius, J R; Day, N L; Fabrega, H; Mezzich, J; Cornelius, M D; Ulrich, R F

1991-08-01

72

Sotos syndrome  

PubMed Central

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

Baujat, Geneviève; Cormier-Daire, Valérie

2007-01-01

73

Les syndromes périodiques de l’enfance  

Microsoft Academic Search

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

J.-C. Cuvellier; A. Lépine

2010-01-01

74

[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

75

[Hyperimmunoglobulin D syndrome].  

PubMed

The hyper-IgD syndrome is a rare entity characterized by early onset of attacks of periodic fever. All patients have an elevated serum IgD (> 100 U/ml). Symptoms during attacks include joint involvements (arthralgias/arthritis), abdominal complaints (vomiting, pain, diarrhoea), skin lesions, swollen lymph nodes, and headache. In 1992 an International hyper-IgD study group was established, and to date the diagnosis has been made in 60, mainly European patients; 14 come from France. The disorder occurs in families and is transmitted by autosomal recessive inheritance. Linkage studies indicate that the gene encoding for familial Mediterranean fever is different from the gene for the hyper-IgD syndrome. In children the hyper-IgD syndrome should be distinguished from two other periodic febrile disorders. CINCA (chronic inflammatory, neurological, cutaneous and articular syndrome) and FAPA (periodic fever, adenopathies, pharyngitis, and aphtous stomatitis) share some symptoms with the hyper-IgD syndrome but in these syndromes serum IgD is normal. The pathogenesis remains to be elucidated but during attacks all patients have an acute-phase response with elevated C-reactive protein concentrations. During the febrile episodes, the inflammatory cytokines such as IL-6 TNF alpha, IFN gamma are increased together with natural occurring inhibitors such as IL-1ra and sTNFr. There is no therapy for the syndrome and patients will experience attacks during their entire life although frequency and severity tend to diminish with age. PMID:7567850

Drenth, J P; Denecker, N E; Prieur, A M; Van der Meer, J W

1995-09-16

76

Usher syndrome  

Microsoft Academic Search

Keywords Included diseases Excluded diseases History Definition Frequency of the various Usher syndromes Usher Syndrome Type 1 (USH1) Usher syndrome Type 2 (USH2) Usher syndrome Type 3 (USH3) Sensorineural Deafness with RP Diagnosis methods Management including treatment Genetic counseling Unresolved questions References Annex Abstract Usher syndrome is defined as a genetically heterogeneous condition comprising 12 independent loci with nine known

Birgit Lorenz; John Marshall

77

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

PubMed

Post-induction aplasia for acute myeloid leukemia/myelodysplastic syndrome is a high-risk period for invasive fungal diseases. The effectiveness of fluconazole, itraconazole solution, voriconazole and posaconazole prophylaxis used consecutively from December 1998 to January 2010 in patients with acute myeloid leukemia/myelodysplastic syndrome undergoing remission-induction chemotherapy was retrospectively evaluated. A total of 216 consecutive patients received 573 prophylaxis courses. Breakthrough-invasive fungal disease incidence in fluconazole, itraconazole, voriconazole, posaconazole recipients was 25%, 16%, 14% and 3%, respectively. Voriconazole/posconazole versus fluconazole/itraconazole combined was associated with significant reductions in breakthrough-invasive fungal disease incidence (20% vs. 8%, P=0.011), premature discontinuations (46% vs. 22% P<0.001) and empiric antifungal treatment (31% vs. 8.5%, P<0.001). Microbiologically confirmed infections were molds. Posaconazole compared to other drugs was associated with fewer courses requiring computed-tomography (43% vs. 26%, P<0.001). Adoption of voriconazole/posaconazole has decreased invasive fungal disease incidence, empiric antifungal treatment and for posaconazole, computed-tomography demand, with effectiveness of posaconazole comparable to clinical trial experience. PMID:22058198

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

2012-03-01

78

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 ...

79

Dravet Syndrome  

MedlinePLUS

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

80

Metabolic Syndrome  

MedlinePLUS

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

81

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 ...

82

Dumping Syndrome  

MedlinePLUS

... Disease Organizations?? (PDF, 341 KB)????? Alternate Language URL Dumping Syndrome Page Content DUE TO UNFORESEEN CIRCUMSTANCES, PUBLICATION ... through Research For More Information Acknowledgments What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

83

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 ...

84

Metabolic Syndrome  

MedlinePLUS

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

85

Thyroid Function in Down Syndrome.  

ERIC Educational Resources Information Center

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

Pueschel, Siegfried M.; And Others

1991-01-01

86

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

PubMed Central

A systematic literature review and meta-analyses (where appropriate) were performed to update the previous AASM practice parameters on the treatments, both dopaminergic and other, of RLS and PLMD. A considerable amount of literature has been published since these previous reviews were performed, necessitating an update of the corresponding practice parameters. Therapies with a STANDARD level of recommendation include pramipexole and ropinirole. Therapies with a GUIDELINE level of recommendation include levodopa with dopa decarboxylase inhibitor, opioids, gabapentin enacarbil, and cabergoline (which has additional caveats for use). Therapies with an OPTION level of recommendation include carbamazepine, gabapentin, pregabalin, clonidine, and for patients with low ferritin levels, iron supplementation. The committee recommends a STANDARD AGAINST the use of pergolide because of the risks of heart valve damage. Therapies for RLS secondary to ESRD, neuropathy, and superficial venous insufficiency are discussed. Lastly, therapies for PLMD are reviewed. However, it should be mentioned that because PLMD therapy typically mimics RLS therapy, the primary focus of this review is therapy for idiopathic RLS. Citation: Aurora RN; Kristo DA; Bista SR; Rowley JA: Zak RS; Casey KR; Lamm CI; Tracy SL; Rosenberg RS. The treatment of restless legs syndrome and periodic limb movement disorder in adults—an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses. SLEEP 2012;35(8):1039-1062. PMID:22851801

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

2012-01-01

87

Marfan Syndrome  

MedlinePLUS

... doctors discovered a connective tissue disorder known as Loeys-Dietz syndrome, which has several characteristics that overlap with those ... the two is different. A diagnostic test for Loeys-Dietz syndrome is available. What Types of Doctors Treat Marfan ...

88

Morquio syndrome  

MedlinePLUS

Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have ... Morquio syndrome is an autosomal recessive trait. If both parents carry the defective gene related to this condition, ...

89

Reye Syndrome  

MedlinePLUS

... What to Expect Reye Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > Reye Syndrome Print A A A ... include: frequent vomiting tiredness or sleepiness in babies, diarrhea and rapid breathing irritability or aggressive behavior Other ...

90

Myelodysplastic Syndromes  

MedlinePLUS

... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

91

Down Syndrome  

MedlinePLUS

... Digestive System How the Body Works Main Page 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 ...

92

Klinefelter Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

93

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. ...

94

Sotos Syndrome  

MedlinePLUS

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

95

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. ...

96

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 ...

97

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

98

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

99

[HIV window period : Acute retroviral syndrome].  

PubMed

A 24-year-old man with no significant medical history was admitted to this hospital because of an acute exanthema, myalgia and malaise. A fourth-generation screening test for HIV was reactive but the following confirmation test was not. Although the patient did not belong to a high risk group, we decided to perform a HIV-RNA-PCR. The result showed a high virus load so that we finally diagnosed a primary HIV infection. PMID:25410826

Stranzenbach, R; Stadler, R

2015-04-01

100

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

101

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

102

Cushing syndrome  

MedlinePLUS

... Tumors elsewhere in the body that produce ACTH ( ectopic Cushing syndrome ) ... the condition will return. Survival for people with ectopic tumors depends on the tumor type. Untreated, Cushing ...

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

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.

105

Poland syndrome  

PubMed Central

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

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

2014-01-01

106

Winchester syndrome  

Microsoft Academic Search

Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is

G. Matthiesen; V. Faurholt Pedersen; P. Helin; G. Krag Jacobsen; N. Søe Nielsen

2001-01-01

107

HELLP Syndrome  

MedlinePLUS

... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

108

[Cotard syndrome].  

PubMed

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

Simovici, G; Bauer, A

1996-01-01

109

Bazex Syndrome*  

PubMed Central

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

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

2013-01-01

110

Turner syndrome  

MedlinePLUS

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, ... Women with Turner syndrome who wish to become pregnant ...

111

Metabolic Syndrome  

MedlinePLUS

... syndrome can lead to. Back Continue Changing Your Course In the case of metabolic syndrome, making a couple of lifestyle changes is the best way to keep yourself on a track to good health. Here are the top ones: Drop excess pounds. If you're overweight, ...

112

[Hypereosinophilic syndrome].  

PubMed

In light of a case of hypereosinophilic syndrome with no revealing underlying disease, the diagnosis and treatment of idiopathic hypereosinophilic syndrome (HES) are discussed. The recent evidence that there are two variants of HES, myeloproliferative and lymphocytic, is considered. PMID:16336860

Troelsen, Lone N; Boisen, Lotte W; Andersen, Ove

2005-12-01

113

Syndromic Craniosynostosis  

PubMed Central

Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis. PMID:23633933

Derderian, Christopher; Seaward, James

2012-01-01

114

Data Collection1 Associated with Fish Tagging/Marking Technologies  

E-print Network

Data Collection1 Associated with Fish Tagging/Marking Technologies Tag/Mark & Release Juvenile fish application: automated Data collection: manual Data upload: manual Collection locations: mainstem, tributary Data collection: visual/manual Data upload: manual Data collection: visual/manual Data upload: manual

115

CHARGE syndrome  

PubMed Central

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. PMID:16959034

Blake, Kim D; Prasad, Chitra

2006-01-01

116

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.

117

Goldenhar syndrome.  

PubMed

Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

Sharma, Neeraj; Passi, Sidhi

2013-01-01

118

Neuroacanthocytosis Syndromes  

PubMed Central

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

2011-01-01

119

Williams Syndrome What causes Williams syndrome?  

E-print Network

Williams Syndrome What causes Williams syndrome? Individuals with Williams syndrome usually in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all ethnicities and socioeconomic backgrounds. What are the effects of Williams syndrome? While every individual

Palmeri, Thomas

120

Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes.  

PubMed

Autoinflammatory syndromes include an expanding list of conditions characterized by unprovoked recurrent attacks of systemic inflammation with lack of auto-antibodies or autoreactive T cells. Many of these syndromes are genetic diseases with a Mendelian inheritance. Neurological manifestations may be one of the major clinical features and, in some cases, the presenting symptom of these syndromes. The purpose of this review is to increase the recognition among neurologists of the Mendelian-inherited autoinflammatory syndromes by highlighting the neurological manifestations in the context of other symptoms that should lead physicians to suspect these syndromes. Most important for neurologists are the cryopyrin-associated periodic syndromes that include familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease (called chronic infantile neurological cutaneous and articular syndrome in Europe). We also review other syndromes with less common neurological involvement, including familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, and hyperimmunoglobulinemia D syndrome. Because these syndromes are often treatable and irreversible damage is prevented if they are treated early, it is important to recognize the features that may result in these syndromes presenting to a neurologist, especially in early childhood. PMID:19563585

Montealegre Sanchez, Gina A; Hashkes, Philip J

2009-06-01

121

Nephrotic Syndrome  

MedlinePLUS

... syndrome comes back after going away. In that case, treatment would begin again until the child outgrows the condition or it improves on its own. Reviewed by: Robert S. ... Reflux (VUR) Your Urinary System Your Kidneys ...

122

Klinefelter Syndrome  

MedlinePLUS

... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

123

Cushing Syndrome  

MedlinePLUS

... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: ... mutation linked to severe form of Cushing’s syndrome Two copies of mutant gene may trigger rare ...

124

Behcet's Syndrome  

MedlinePLUS

Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

125

Cushing's Syndrome  

MedlinePLUS

... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

126

Thalassemia syndrome.  

PubMed

A 16 years old female patient diagnosed to have thalassemia syndrome in Black lion Hospital based on clinical presentation, complete blood count, peripheral morphology and bone marrow findings. PMID:25069213

Sherif, Abdulaziz A; G/Medhin, Amha; Tadesse, Fisihatsion; Tsegaye, Tewodros

2014-01-01

127

Fahr's Syndrome  

MedlinePLUS

... Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like ... a CT scan could be negative in a gene carrier who is younger than the age of ...

128

Caplan syndrome  

MedlinePLUS

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

129

Paraneoplastic Syndromes  

PubMed Central

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

Stolinsky, David C.

1980-01-01

130

Aicardi syndrome  

MedlinePLUS

... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

131

Noonan syndrome  

MedlinePLUS

... EKG , chest x-ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height ...

132

Down Syndrome  

MedlinePLUS

... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

133

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 ...

134

Asperger Syndrome  

MedlinePLUS

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

135

Hurler syndrome  

MedlinePLUS

Enzyme replacement therapy for Hurler syndrome adds a working form of the missing enzyme to the body. The medication, called laronidase (Aldurazyme), is given through a vein (intravenously). Talk to your ...

136

Usher Syndrome  

MedlinePLUS

... the loss of hearing and vision. Top Is genetic testing for Usher syndrome available? So far, 11 genetic ... usually performed through hearing, balance, and vision tests. Genetic testing for a few of the identified genes is ...

137

Premenstrual syndrome  

MedlinePLUS

... feeling gassy Breast tenderness Clumsiness Constipation or diarrhea Food cravings Headache Less tolerance for noises and lights ... Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and premenstrual ...

138

[Netherton syndrome].  

PubMed

Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. PMID:16956571

Serra-Guillén, Carlos; Torrelo, Antonio; Drake, Marta; Armesto, Susana; Fernández-Llaca, Héctor; Zambrano, Antonio

2006-06-01

139

Hyperventilation syndrome  

Microsoft Academic Search

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

Richard E. Brashear

1983-01-01

140

Alagille syndrome.  

PubMed Central

Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

Krantz, I D; Piccoli, D A; Spinner, N B

1997-01-01

141

[Diencephalic syndrome].  

PubMed

Diencephalic structures are thalamus, hypothalamus, epithalamus, subthalamus and hypophysis. Diencephalic structures injury lead to several syndromes: diencephalic dysthermia, hypothalamic obesity, pediatric diencephalic syndrome, Cushing's disease, etc. Diencephalic syndrome manifests in 15-33% of patients with TBI. The goal of our study was to describe diencepalic syndrome in patients in neurointensive care unit. 76 patients took part in the study, 43 women and 33 men among them. The age of patients ranged from 19 to 77 years. All patients had consciousness disorders (CD) and dysnatremia. The patients were divided into 6 groups according to the number of somatic organ dysfunctions (SOD). 12 patients had only dysnatremia and CD without SOD (91.7% of them with benign outcome; 7.3% of them with poor outcome (GOS-3)). 11 patients in the second group had CD, dysnatremia and 1 SOD (45.5% of them had benign outcome; 54.5%--poor outcome). In the third group patients had 2 SOD (42% of them had poor outcome (GOS-3) and 33%--lethal outcome (GOS-1)). The worst outcome was in the 6th group, where patients had 5 SOD. All the patients in that group died. So, in patients with neurosurgical pathology in chiasmal area dienchephalic syndrome manifests by combination of CD, dysnatremia and at least 1 SOD. The number of SOD determines the outcome and severity of diencephalic syndrome. PMID:23082645

2012-01-01

142

Chronic Fatigue Syndrome  

MedlinePLUS

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

143

Williams Syndrome: Neuroimaging,  

E-print Network

Williams Syndrome: Genetics, Neuroimaging, Cognition, and Clinical Issues Williams Syndrome Conference on Williams Syndrome Proceedings of the 12 International Professional Conference on Williams by: The Williams Syndrome Association and Hosted by: The Salk Institute Orange County, CA July 13

144

Tethered Spinal Cord Syndrome  

MedlinePLUS

NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

145

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 ...

146

Craniofacial Syndrome Descriptions  

MedlinePLUS

... rapidly growing endothel or vascular cells. Hemifacial Microsomia/Goldenhar syndrome Microtia/Atresia CCA's A Guide to Understanding ... palsy • Fibrous dysplasia • Frontonasal dysplasia • Hemangioma • Hemifacial Microsomia / Goldenhar syndrome • Microtia/Atresia • Miller syndrome • Moebius syndrome • Nager ...

147

Down Syndrome (For Parents)  

MedlinePLUS

About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

148

Hyperimmunoglobulin E syndrome  

MedlinePLUS

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

149

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 ...

150

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: ...

151

The molecular pathogenesis of HIV1 associated nephropathy: recent advances  

Microsoft Academic Search

HIV-1-associated nephropathy (HIVAN) is a major complication of HIV-1 infection, frequently resulting in kidney failure. HIVAN\\u000a arises due to HIV-1-induced dysregulation of podocytes, the glomerular epithelial cells that establish and maintain the kidney\\u000a filtration barrier. Host genetic factors are important for the development of HIVAN. The risk of HIVAN is greatest in populations\\u000a of African ancestry, and is attributable to

Natalia Papeta; Roel Sterken; Krzysztof Kiryluk; Robert Kalyesubula; Ali G. Gharavi

2011-01-01

152

Hamartomatous polyposis syndromes  

Microsoft Academic Search

The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz–Jeghers syndrome and the PTEN hamartoma tumor syndrome. The frequency and location of the polyps vary considerably among syndromes, as does the affected patient's predisposition to the

Kevin M Zbuk; Charis Eng

2007-01-01

153

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

154

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

155

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

156

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

157

Microdeletion syndromes.  

PubMed

The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes. PMID:23664828

Carvill, Gemma L; Mefford, Heather C

2013-06-01

158

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

159

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

160

Leopard syndrome  

Microsoft Academic Search

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence

Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola

2008-01-01

161

Wells syndrome  

PubMed Central

Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation. PMID:23189251

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

2012-01-01

162

Bloom syndrome.  

PubMed

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

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

2014-07-01

163

Rett Syndrome.  

ERIC Educational Resources Information Center

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

Culbert, Linda A.

164

[Metabolic syndrome].  

PubMed

The metabolic syndrome consists of a cluster of metabolic diseases which often coexist: abdominal obesity, glucoseintolerance, diabetes mellitus type II, dyslipidemia, hypertension and impaired fibrinolysis. The common pathophysiologic link of these diseases in insulin resistance. All clinical disorders of the metabolic syndrome are risk factors for the vascular system. Since several diseases are present at the same time the risk for atherosclerotic complications such as coronary artery disease and apoplexy is potentiated. As a consequence the costs for direct and indirect health care are high. Besides a genetic predisposition the metabolic syndrome is mainly caused by the typical life style in industrialized countries with high energy and fat intake, physical inactivity, alcohol consumption, smoking, and stress. Therefore, prophylaxis and therapy imply the removal of these factors. In order to be successful experienced physicians and motivated patients are prerequisites. Even more affective than therapy is prophylaxis which is, however, not established in Germany. The metabolic syndrome is up to now not identified as a major health problem neither by the medical profession nor by health insurances and politicians. An effective therapy and prophylaxis would induce far-reaching changes in our health system and diminish health costs. PMID:9082643

Wirth, A; Rothenfelde, B

1996-12-01

165

Premenstrual syndrome  

Microsoft Academic Search

Premenstrual syndrome (PMS) is a serious condition that is still poorly understood and accepted. It is a psychological and somatic disorder of unknown aetiology. It is quoted that 95% of women suffer from premenstrual symptoms and 5% of these suffer from PMS. Symptoms of PMS must arise in the luteal phase of a woman’s cycle, be relieved by menstruation, and

Serena Salamat; Khaled M. K. Ismail; Shaughn O’ Brien

2008-01-01

166

Alport Syndrome  

MedlinePLUS

... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

167

Metabolic Syndrome  

MedlinePLUS

... your waist Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, ...

168

[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

169

Menkes's steely hair syndrome.  

PubMed Central

Three unrelated cases of Menkes's syndrome are described. In addition to the typical features these cases all showed abnormalities of the urinary tract characterized by hydronephrosis, hydroureter, and bladder diverticula. There was no organic obstruction in the urinary tract and the changes are presumed to be due to disturbed innervation. The 3 patients showed no overall clinical response to parenteral copper therapy administered for periods of 1 to 8 months. Necropsy studies showed structural changes in veins as well as arteries together with aneurysm formation in both, and one case showed a polypoid lesion in the stomach. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:1275538

Wheeler, E M; Roberts, P F

1976-01-01

170

Why Metabolic Syndrome Matters  

MedlinePLUS

Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

171

PTEN hamartoma tumor syndromes  

Microsoft Academic Search

The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome

Gideon M Blumenthal; Phillip A Dennis

2008-01-01

172

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

173

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

174

Compartment syndrome.  

PubMed

Compartment syndrome is a limb-threatening and occasionally life-threatening injury. It occurs whenever the tissue pressure (referred to as interstitial pressure) within a closed anatomic space is greater than the perfusion pressure. Untreated, compartment syndrome leads to tissue necrosis, permanent functional impairment and, if severe in large compartments, renal failure and death. Compartment syndrome can occur within any muscle group located in a compartment. It is most common following an event that severely damages a muscle, like a crushing or twisting injury. Mechanisms of injury that involve circumferential burns, ischemia and tourniquets can cause compartment syndrome. Motorcyclists who suffer lower-extermity injuries in accidents are a high-risk group. A tough membrane referred to as a fascia covers muscle groups, forming a compartment for the muscle. In normal circumstances, this arrangement allows the muscle to function more efficiently, but if the muscle is injured in any way, the fascia limits the amount of swelling that can occur. This in turn restricts the flow of blood through the affected region. The first compromised function within the compartment is the flow of lymph and venous blood. If there are sensory nerves running through the compartment, they will not function correctly, causing the numbness, tingling and, later, the pain associated with compartment syndrome. With more swelling, arterial flow is compromised, pain worsens and motor function is impaired. An artificial way of producing a compartment syndrome is to place a cast or splint around a damaged extermity, compressing it. This is a way emergency personnel can compromise an injury and cause long-term consequences for the patient. Recovery is achieved by surgically opening the compartment involved (a fasciotomy) and releasing the pressure. The muscle at first will swell outside the compartment, but then it recovers, swelling is reduced and normal function can be recovered. Prehospital treatment of extremity injuries that will prevent or limit compartment syndrome is immobilization, elevation and cooling. Recognition of the syndrome later in its course, as in this case, requires the EMT to remove the patient to an appropriate emergency department. Prehospital providers need to recognize that many mechanisms of injury can produce this syndrome, even those that seem relatively minor. All injured patients should be educated to seek care should the symptoms of numbness, deep pain and coolness to the distal extremity occur. This case involved a patient who, from a relatively minor mechanism of trauma, experienced an internal disruption of the muscle group controlling the thumb (thenar mass). The early swelling in the thenar compartment resulted in the patient experiencing a tingling sensation in his left thumb. In many cases, such an injury would be referred to as a "stinger" (a temporary neurological deficit due to a sudden and excessive stimulation of a neurologic plexus or junction). But this patient had more swelling in the compartment, resulting in a lack of circulation manifested by a cool extremity, poor capillary refill and decreased pulse oximetry. Luckily, this officer recognized the need for medical evaluation of what appeared to be a minor injury and was returned to duty with no permanent impairment. PMID:14503155

Weinmann, Michael

2003-09-01

175

Polycystic ovary syndrome: Syndrome XX?  

Microsoft Academic Search

Polycystic ovary syndrome (PCOS) is now recognized as an important metabolic and reproductive disorder. It is associated with substantial defects in insulin action and secretion that confer a markedly increased risk for type 2 diabetes mellitus. Insulin resistance modifies reproductive function both by the direct actions of insulin on steroidogenesis and by disruption of insulin signaling pathways in the central

Susan Sam; Andrea Dunaif

2003-01-01

176

HTLV-1-associated infective dermatitis: updates on the pathogenesis.  

PubMed

HTLV-1-associated infective dermatitis (HAID) is the main paediatric manifestation of human T-cell lymphotropic virus type 1 (HTLV-1). It is characterised by a chronic exudative eczematous eruption and persistent infection with Staphylococcus aureus (SA) and beta-haemolytic streptococci (BHS). Prevalence is highest in the Caribbean and Brazil; however, cases have been reported in other HTLV-1 endemic regions. Approximately 20 million people worldwide are infected with HTLV-1 and only 5-10% suffer from disease. Other manifestations include adult T-cell leukaemia/lymphoma (ATLL) and tropical spastic paraparesis/HTLV-1-associated myelopathy (TSP/HAM). HAID may also progress to ATLL or TSP/HAM. Treatment options are limited to prolonged antibiotic therapy. The aim of this paper is to review existing evidence and propose new theories on the pathogenesis of HAID. The current view is that HTLV-1 infection is required and in susceptible individuals leads to immune dysregulation with subsequent immunosuppression and superinfection with SA and BHS. Evidence suggests that host, environment and genetic factors may play a causative role. Genetic factors within ethnic groups determine host immune response and carrier state or disease manifestation of HTLV-1 infection. Increased IgE levels may contribute to the SA and BHS superinfection in HAID. Additionally, the possible impact of filaggrin, skin proteinase dysregulation, Langerhans cell dysfunction and TH2 chemokines is highlighted. More than 45 years since the discovery of HAID, the exact pathogenesis is still not fully understood. Further research is still needed to clearly elucidate the exact pathogenic mechanism of HAID. PMID:23163646

McGill, Neilia-Kay; Vyas, Jui; Shimauchi, Takatoshi; Tokura, Yoshiki; Piguet, Vincent

2012-11-01

177

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 ...

178

Fluency Disorders in Genetic Syndromes  

ERIC Educational Resources Information Center

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

Van Borsel, John; Tetnowski, John A.

2007-01-01

179

Human T Lymphotropic Virus Type-1-associated Myelopathy Manifesting Shortly after Living-donor Renal Transplantation.  

PubMed

A 38-year-old woman experienced numbness in both lower extremities and spastic paralysis a few months after undergoing living-donor renal transplantation. The patient was negative for human T lymphotropic virus type-1 (HTLV-1) antibodies prior to the procedure; however, she was diagnosed with HTLV-1-associated myelopathy (HAM) based on positive serum and cerebrospinal fluid antibody titers after the surgery. Because the donor was also positive for HTLV-1 antibodies, the infection likely originated from the transplanted kidney. Clinical and imaging improvements were noted following the administration of interferon-?. HAM has been reported to occur after living-donor renal transplantation; however, there are no previous reports of onset within such a short period. PMID:25742898

Nagamine, Yuito; Hayashi, Takeshi; Kato, Yuji; Horiuchi, Yohsuke; Tanahashi, Norio

2015-01-01

180

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

181

Dumping Syndrome.  

PubMed

The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude fluid intake during ingestion of the solid portion of the meal. More severely affected individuals may respond to agents such as pectin and guar, which increase the viscosity of intraluminal contents, or to drugs such as the alpha-glucosidase inhibitor acarbose, which blunts the rapid absorption of glucose, and the somatostatin analog octreotide, which alters gut transit and impairs release of vasoactive mediators into the bloodstream. PMID:11879594

Hasler, William L.

2002-04-01

182

BRUGADA SYNDROME  

PubMed Central

Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. It is associated with ventricular fibrillation and a high risk for sudden cardiac death, predominantly in younger males with structurally normal hearts. Patients can remain asymptomatic, and electrocardiographic patterns can occur both spontaneously or after pharmacological induction. So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. Two consensus reports to define the diagnostic criteria, risk stratification, and management of patients have been published in the last few years. This brief review focuses on the recent clinical diagnosis, genetic basis, and advances in pharmacological treatment of Brugada syndrome. PMID:24932359

2014-01-01

183

Paraneoplastic syndromes  

SciTech Connect

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

Weller, R.E.

1994-03-01

184

Reye syndrome - resources  

MedlinePLUS

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

185

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... Pulmonary Syndrome Hantavirus Pulmonary Syndrome Hantavirus pulmonary syndrome (HPS) is a disease that comes from contact with ... rodents or their urine, droppings or saliva. The HPS infection cannot be transmitted from one person to ...

186

Fragile X Syndrome Overview  

MedlinePLUS

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

187

Down Syndrome: Eye Problems  

MedlinePLUS

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

188

Ramsay Hunt syndrome  

MedlinePLUS

Hunt syndrome; Herpes oticus ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus is believed to infect the ...

189

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 ...

190

ADHD & Down Syndrome  

MedlinePLUS

... like symptoms may indicate another disorder such as autism, bipolar disorder or obsessive compulsive disorder. Uncomplicated ADHD ... Issues & Down Syndrome Dual Diagnosis of Down Syndrome & Autism Ear, Nose & Throat Issues & Down Syndrome Endocrine Conditions & ...

191

Cardiac Syndrome X  

MedlinePLUS

... What causes cardiac syndrome X? There are many theories about what causes cardiac syndrome X. Some doctors ... disease. How is cardiac syndrome X treated? A number of medicines can help relieve the angina pain ...

192

Reye's Syndrome  

PubMed Central

Reye's syndrome (encephalopathy with fatty infiltration of the viscera) is an acute illness of childhood that produces hepatic dysfunction and metabolic encephalopathy. The disease is fatal in as many as 40% of cases. The cause is unknown. Several environmental agents, particularly salicylates and aflatoxin, have been implicated as possible toxins in this disorder. Treatment is directed at controlling intracranial pressure, reversing metabolic abnormalities and providing intensive supportive care. Normal neurologic function returns in most survivors. Images PMID:6495727

Trauner, Doris A.

1984-01-01

193

Gitelman syndrome  

Microsoft Academic Search

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases,

Nine V. A. M. Knoers; Elena N. Levtchenko

2008-01-01

194

LEOPARD syndrome.  

PubMed

LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. We report on the case of a six-year-old Djiboutian with typical features of LS. Multiple cardiovascular problems are described, including pulmonary infundibular, valvular and supra-valvular stenosis. A favourable course was observed after successful cardiac surgery. This is the first reported case of LS from the horn of Africa. PMID:22832481

Massoure, P L; Latremouille, C; Lamblin, G; Leca, F

2012-07-01

195

Nutcracker syndrome  

PubMed Central

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-01-01

196

[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

197

Roberts syndrome  

PubMed Central

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

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

2014-01-01

198

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

199

Anserine syndrome.  

PubMed

Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

Helfenstein, Milton; Kuromoto, Jorge

2010-01-01

200

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

201

Biochemical abnormalities in Pearson syndrome.  

PubMed

Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders. © 2015 Wiley Periodicals, Inc. PMID:25691415

Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

2015-03-01

202

Cyclic vomiting syndrome: treatment options.  

PubMed

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

Hejazi, Reza A; McCallum, Richard W

2014-08-01

203

Robinow syndrome  

PubMed Central

Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical “fetal facies” appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features. PMID:19753239

Suresh, SS

2008-01-01

204

Olmsted syndrome.  

PubMed

A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement. PMID:20921671

Sirka, C S; Ramam, M; Mittal, R; Khaitan, B K; Verma, K K

1999-01-01

205

Behçet's syndrome.  

PubMed

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

Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan

2013-05-01

206

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

207

Association between metabolic syndrome and depressive symptoms in middle-aged adults: Results from the Whitehall II study  

E-print Network

1 Association between metabolic syndrome and depressive symptoms in middle-aged adults: Results symptoms in a cohort of middle-aged British civil servants. Research Design and Methods: Analyses included of depressive symptoms. Keyword: Metabolic syndrome, Depressive symptoms, Prospective study, Middle-aged

Paris-Sud XI, Université de

208

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

209

Cardiac Surgery for Kartagener Syndrome  

Microsoft Academic Search

.   Two patients (one girl, one boy) with Kartagener syndrome (situs inversus, bronchiectasis, sinusitis), despite pulmonary\\u000a problems and associated congenital cardiac anomalies, were operated on at the ages of 4 years and 7 years, respectively. They\\u000a had had previous palliative treatment at the age of 3 months and 1.3 years, respectively. Both postoperative periods after\\u000a total correction were without significant

T. Tkebuchava; L. K. von Segesser; U. Niederhäuser; U. Bauersfeld; M. Turina

1997-01-01

210

Loeys-Dietz Syndrome  

MedlinePLUS

... they can get the right treatment. What causes Loeys-Dietz syndrome? Loeys-Dietz syndrome is caused by a genetic ... Dietz syndrome. What are the key features of Loeys-Dietz syndrome? Because connective tissue is found throughout the body, ...

211

Post-Polio Syndrome  

MedlinePLUS

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

212

Parkinsonian Syndromes  

PubMed Central

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

Williams, David R.; Litvan, Irene

2013-01-01

213

Meckel syndrome.  

PubMed Central

Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292

Salonen, R; Paavola, P

1998-01-01

214

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

PubMed Central

Multiple endocrine neoplasia type 1 (MEN1) is a cancer predisposition syndrome that includes a combination of endocrine and non-endocrine tumors. The present study reports a rare case of MEN1 associated with breast cancer with the MEN1 gene mutation. A 45-year-old female was diagnosed with breast cancer subsequent to presenting with a right breast mass. Pre-operative radiological studies indicated right breast cancer with a suspicious metastatic nodule of the lung. Further studies demonstrated bilateral thyroid nodules, a neuroendocrine tumor of the pancreas, paraganglioma, a left adrenal adenoma, gallstones, uterine subserosal myoma and pituitary macroadenoma. Laboratory examinations revealed hypercalcemia, hypophosphatemia and an increased intact parathyroid hormone level. The workup for the suspected MEN syndrome revealed an increased basal plasma level of insulin-like growth factor-1, prolactin and calcitonin, and an increased 24-h urinary free cortisol level. The patient underwent surgical removal of the breast cancer and the tumors of the pancreas, adrenal gland, thyroid and parathyroid glands, uterus, anterior mediastinum and lung. The pathological diagnosis of the resected breast was of invasive ductal carcinoma. Otherwise the pathological diagnosis was of calcitonin-producing pancreatic endocrine carcinoma, adrenal cortical adenoma, bilateral papillary thyroid carcinomas, parathyroid adenomas, uterine leiomyoma with adenomyosis, a thymic carcinoid tumor and lung hamatoma. Gene analysis was performed to determine the association between gene mutations and the development of tumors in this patient, and a germ-line MEN1 gene mutation was consequently detected. It could be assumed that MEN1 syndrome may have possibly predisposed the present patient to breast cancer. However, additional observations and further studies are required to demonstrate this association. PMID:24959251

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

2014-01-01

215

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

PubMed

Multiple endocrine neoplasia type 1 (MEN1) is a cancer predisposition syndrome that includes a combination of endocrine and non-endocrine tumors. The present study reports a rare case of MEN1 associated with breast cancer with the MEN1 gene mutation. A 45-year-old female was diagnosed with breast cancer subsequent to presenting with a right breast mass. Pre-operative radiological studies indicated right breast cancer with a suspicious metastatic nodule of the lung. Further studies demonstrated bilateral thyroid nodules, a neuroendocrine tumor of the pancreas, paraganglioma, a left adrenal adenoma, gallstones, uterine subserosal myoma and pituitary macroadenoma. Laboratory examinations revealed hypercalcemia, hypophosphatemia and an increased intact parathyroid hormone level. The workup for the suspected MEN syndrome revealed an increased basal plasma level of insulin-like growth factor-1, prolactin and calcitonin, and an increased 24-h urinary free cortisol level. The patient underwent surgical removal of the breast cancer and the tumors of the pancreas, adrenal gland, thyroid and parathyroid glands, uterus, anterior mediastinum and lung. The pathological diagnosis of the resected breast was of invasive ductal carcinoma. Otherwise the pathological diagnosis was of calcitonin-producing pancreatic endocrine carcinoma, adrenal cortical adenoma, bilateral papillary thyroid carcinomas, parathyroid adenomas, uterine leiomyoma with adenomyosis, a thymic carcinoid tumor and lung hamatoma. Gene analysis was performed to determine the association between gene mutations and the development of tumors in this patient, and a germ-line MEN1 gene mutation was consequently detected. It could be assumed that MEN1 syndrome may have possibly predisposed the present patient to breast cancer. However, additional observations and further studies are required to demonstrate this association. PMID:24959251

Jeong, Young Ju; Oh, Hoon Kyu; Bong, Jin Gu

2014-07-01

216

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

217

Leopard syndrome  

PubMed Central

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable. PMID:18505544

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

2008-01-01

218

Non-Syndromic Recurrent Multiple Odontogenic Keratocysts: A Case Report  

PubMed Central

Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBS). It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple recurring OKC. Our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome. PMID:21998815

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

2011-01-01

219

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

220

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

ERIC Educational Resources Information Center

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

Sung, Hyunsook; And Others

1997-01-01

221

Myhre syndrome.  

PubMed

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

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

2014-06-01

222

Bouveret syndrome.  

PubMed

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

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

2013-09-01

223

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

224

Rett Syndrome  

PubMed Central

Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

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

2012-01-01

225

Antiphospholipid syndrome.  

PubMed

The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

George, Diane; Erkan, Doruk

2009-01-01

226

[Lynch syndrome (case report)].  

PubMed

The authors have analyzed the ethology, pathogenesis, treatment of Lynch Syndrome and described a case history of a 65-year-old woman with right breast cancer who was admitted into a hospital with intestines impassability and operation was performed. During the operation tumour, which caused the acute intestine impassability was identified. Apart from this, after the inner organ examination metastasis on stomach and tumour in upper and middle rectum were found. Histology and colonoscopy revealed the rectum adenocarcinoma (morphologic code 8140/3) with mild differentiation. Examination revealed adenocarcinoma with high and middle area differentiation (morphologic code 8480/3). Post-operational period was satisfactory. On the 10-th day the stitches were removed, chemical therapy was carried out according to the scheme set. Patient was examined after a year and two months. General health was satisfactory; she conducts an active life. PMID:19430032

Grigoliia, N G; Gachechiladze, M G; Chichua, L G; Chkheidze, G R; Bolotashvili, Sh N

2009-04-01

227

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

228

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

229

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 ...

230

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome  

PubMed Central

Drug rash with eosinophilia and systemic symptoms syndrome is a severe idiosyncratic drug reaction with a long latency period. It has been described using many terms; however, drug rash with eosinophilia and systemic symptoms syndrome appears to be the most appropriate. This syndrome causes a diverse array of clinical symptoms, anywhere from 2 to 8 weeks after initiating the offending drug. Standardized criteria for the diagnosis have been developed; however, their utility remains to be validated. Unfortunately, the management of drug rash with eosinophilia and systemic symptoms syndrome is not well supported by strong evidence-based data. PMID:23882307

McLeod, Michael; Torchia, Daniele; Romanelli, Paolo

2013-01-01

231

Ulnar tunnel syndrome.  

PubMed

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

Chen, Shih-Heng; Tsai, Tsu-Min

2014-03-01

232

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

233

Gorlin-goltz syndrome.  

PubMed

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

Pandeshwar, Padma; Jayanthi, K; Mahesh, D

2012-01-01

234

Gorlin-Goltz Syndrome  

PubMed Central

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

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

2012-01-01

235

Ochoa syndrome: a spectrum of urofacial syndrome  

Microsoft Academic Search

The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders\\u000a and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary\\u000a problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a\\u000a median follow up

Ozgu Aydogdu; Berk Burgu; Fuat Demirel; Tarkan Soygur; Zeynep Birsin Ozcakar; Fatos Yalc?nkaya; Serdar Tekgul

2010-01-01

236

Noonan's and DiGeorge syndromes with monosomy 22q11  

Microsoft Academic Search

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome;

D I Wilson; S B Britton; C McKeown; D Kelly; I E Cross; S Strobel; P J Scambler

1993-01-01

237

Nonlethal multiple pterygium syndrome: Escobar syndrome.  

PubMed

Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis. The etiologies from maternal causes were excluded prior to birth. Subsequent workup after birth led to a highly suspected diagnosis of nonlethal Escobar by the geneticist. The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge. The infant demonstrated contractures and bilateral hip subluxation but was feeding well and was discharged home with outpatient follow-up. Treatment after discharge has been extensive secondary to difficulties associated with this disease. The clinical presentation of nonlethal Escobar, as well as diagnosis and treatment strategies, is provided with caregiving strategies. PMID:24472885

Bissinger, Robin L; Koch, Frances R

2014-02-01

238

Cushing's Syndrome  

MedlinePLUS

... is exposed to high levels of the hormone cortisol for a long period of time. Cortisol is also sometimes called a "stress hormone" and ... be caused by the body making too much cortisol or it can be caused by taking too ...

239

Retal tubular acidosis complicated with hypokalemic periodic paralysis  

Microsoft Academic Search

Three Chinese girls with hypokalemic periodic paralysis secondary to different types of renal tubular acidosis are presented. One girl has primary distal renal tubular acidosis complicated with nephrocalcinosis. Another has primary Sjögren syndrome with distal renal tubular acidosis, which occurs rarely with hypokalemic periodic paralysis in children. The third has an isolated proximal renal tubular acidosis complicated with multiple organ

Ying-Chao Chang; Chao-Chang Huang; Yuan-Yow Chiou; Chin-Yin Yu

1995-01-01

240

Fragile X Syndrome  

MedlinePLUS

... syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. ... of males with fragile X syndrome demonstrate significant intellectual disability (formerly referred to as “mental retardation”). Disabilities in ...

241

Chronic fatigue syndrome - resources  

MedlinePLUS

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

242

Chronic fatigue syndrome  

MedlinePLUS

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

243

HAMARTOMATOUS POLYPOSIS SYNDROMES  

PubMed Central

Synopsis Since the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk. PMID:18672141

Calva, Daniel; Howe, James R.

2009-01-01

244

Chronic Fatigue Syndrome  

MedlinePLUS

... syndrome/myalgic encephalomyelitis. A primer for clinical practitioners Centers for Disease Control and Prevention (CDC) Phone Number: 800-232-4636 Chronic Fatigue Syndrome Advisory Committee, HHS Social Security Administration Revised Social Security Ruling about Evaluating Cases ...

245

Irritable Bowel Syndrome  

MedlinePLUS

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

246

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.

247

Obesity Hypoventilation Syndrome  

MedlinePLUS

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

248

Lennox-Gastaut Syndrome  

MedlinePLUS

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

249

Acute respiratory distress syndrome  

MedlinePLUS

Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the ... and into the blood. Infants can also have respiratory distress syndrome .

250

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... Emerging and Zoonotic Infectious Diseases Division of High-Consequence Pathogens and Pathology Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome (HPS) is a rare but severe, sometimes fatal, respiratory disease in humans caused by infection with hantavirus. What are the ...

251

Down Syndrome: Education  

MedlinePLUS

... Media Kit Financials Newsroom Donate Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

252

Learning about Klinefelter Syndrome  

MedlinePLUS

... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

253

Learning about Velocardiofacial Syndrome  

MedlinePLUS

... Definitions for genetic terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? ... are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems. The name ...

254

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 ...

255

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 ...

256

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 ...

257

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.

258

Zollinger-Ellison syndrome  

MedlinePLUS

Zollinger-Ellison syndrome is a condition in which there is increased production of the hormone gastrin. Most of ... Zollinger-Ellison syndrome is caused by tumors. These growths are most often found in the head of the ...

259

Autoimmune Lymphoproliferative Syndrome (ALPS)  

MedlinePLUS

... JavaScript on. Read more information on enabling JavaScript. Autoimmune Lymphoproliferative Syndrome (ALPS) Top Banner Content Area Skip Content Marketing Share this: Main Content Area Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder ...

260

Fragile X syndrome  

MedlinePLUS

... may be the only sign of the disorder. Genetic testing can diagnose this disease. ... Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.

261

Alport Syndrome Diagnosis  

MedlinePLUS

... perform analysis of skin biopsies for Alport Syndrome. Genetic Testing Clinicians in many but not all parts of the world now have access to genetic testing for diagnosis of Alport Syndrome through commercial laboratories ...

262

Childhood Nephrotic Syndrome  

MedlinePLUS

... and symptoms of childhood nephrotic syndrome may include edema—swelling, most often in the legs, feet, or ... and symptoms of childhood nephrotic syndrome may include edema—swelling, most often in the legs, feet, or ...

263

Complex regional pain syndrome  

MedlinePLUS

CRPS; RSDS; Causalgia - RSD; Shoulder-hand syndrome; Reflex sympathetic dystrophy syndrome; Sudeck atrophy ... Doctors are not sure what causes CRPS. In some cases, the sympathetic ... role in the pain. Another theory is that CRPS is caused by ...

264

Small Bowel Polyposis Syndromes  

Microsoft Academic Search

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

Nadir Arber; Menachem Moshkowitz

265

Williams Syndrome and Happiness.  

ERIC Educational Resources Information Center

Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

Levine, Karen; Wharton, Robert

2000-01-01

266

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...

267

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

268

CANDLE Syndrome: A Recently Described Autoinflammatory Syndrome.  

PubMed

CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

Tüfekçi, Ozlem; Bengoa, SebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; Irken, Gülersu; Oren, Hale

2014-07-17

269

[The Othello syndrome].  

PubMed

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

Alarcon, R

1980-12-01

270

Fat embolism syndrome  

PubMed Central

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

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

2013-01-01

271

Behcet's Syndrome.  

PubMed

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

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

2012-12-01

272

[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

2015-03-01

273

Cardiorenal Syndrome in Acute Heart Failure Syndromes  

PubMed Central

Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine ?1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed. PMID:21423563

Sarraf, Mohammad; Schrier, Robert W.

2011-01-01

274

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

ERIC Educational Resources Information Center

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

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

2007-01-01

275

Periodic Limb Movement Disorder and Restless Legs Syndrome  

MedlinePLUS

... System Brain Infections Meningitis Prion Diseases Movement Disorders Multiple Sclerosis (MS) and Related Disorders Spinal Cord Disorders Peripheral ... caffeine or stimulant drugs) or certain antidepressants Have iron deficiency Have anemia Are pregnant Have a kidney ...

276

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 ...

277

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 ...

Mrs. Suggs

2007-11-30

278

Hamartomatous polyposis syndromes  

PubMed Central

Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation. PMID:23724922

2013-01-01

279

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

280

Down syndrome masked by Marfan syndrome in a neonate  

PubMed Central

A male neonate with maternally inherited Marfan syndrome was also diagnosed with Down syndrome at 3?weeks of age. To our knowledge this is the first described case in the literature of the co-occurrence of Down syndrome and Marfan syndrome in a neonate. The diagnosis of Down syndrome was delayed and we hypothesise that Marfan syndrome had masked the usual phenotypic features of Down syndrome. The phenotype of this child is intriguing and has lead to speculation of the possible interaction of the two syndromes. PMID:23483062

Eayrs, Katie; Shettihalli, Naveen; Adwani, Satish

2013-01-01

281

A special case of Wellens' syndrome  

PubMed Central

Wellens' syndrome is a pattern of electrocardiographic T-wave changes associated with critical stenosis of proximal left anterior descending artery (LAD). T-waves abnormalities were found in precordial leads, especially in V2–V3 during pain-free periods, and ECG obtained during episodes of pain demonstrates upright T-waves with possible elevated or isoelectric ST segments. Early recognition and appropriate intervention carries significant diagnostic and prognostic value. We reported a case of Wellens' syndrome with different etiology and prognosis. Although the ECG showed typical T-wave changes in V2–V5 leads, patient's coronary angiography revealed moderate stenosis in proximal LAD, and coronary artery spasm was suggested. Unlike the classic Wellens' syndrome, which needs aggressive coronary intervention, our patient fared well with conservative medical therapy (diltiazem and nitrates) and showed favorable prognosis. PMID:24023474

Abulaiti, Alimujiang; Aini, Renaguli; Xu, Hiarong; Song, Zejun

2013-01-01

282

[Immune reconstitution inflammatory syndrome or IRIS].  

PubMed

The immune reconstitution inflammatory syndrome is a heterogeneous collection of pathological manifestations attributed to an excessive and deregulated immune response to various infectious and non-infectious pathogens consecutive to the modification of immune status. Mycobacteria and mycoses in the context of an HIV infection are the main causes of IRIS but this syndrome is also observed with many infectious pathogens in the context of auto-immune or inflammatory diseases. An excessive specific CD4 Th1 response leading to delayed hypersensitivity with imbalanced effector and regulatory cellular immune responses is suggested. The role played by host polymorphisms remains to be investigated. The emergence of a unique syndrome gathering multiple immune-depression/reconstitution such as HIV infection and antiretroviral therapy, decrease of immune depression in transplant, recovery from neutropenia after chemotherapy for cancer, and even post-partum period, could link various specialties and help to better understand physiopathology which is crucial to elaborate preventive therapies. PMID:20346278

Breton, Guillaume

2010-03-01

283

Genetics Home Reference: Lujan syndrome  

MedlinePLUS

... syndrome? Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to ...

284

Genetics Home Reference: Silver syndrome  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature Conditions > Silver syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed February 2012 What is Silver syndrome? Silver syndrome belongs to a group of ...

285

Genetics Home Reference: Myhre syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Myhre syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed January 2013 What is Myhre syndrome? Myhre syndrome is a condition with features ...

286

Learning about Antiphospholipid Syndrome (APS)  

MedlinePLUS

... APS)? Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome and sometimes Hughes syndrome, is a disorder characterized by elevated levels of multiple different antibodies (proteins produced by the body to fight off ...

287

Genetics Home Reference: Poland syndrome  

MedlinePLUS

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Poland syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed March 2013 What is Poland syndrome? Poland syndrome is a disorder in which ...

288

Alzheimer's Disease and Down Syndrome  

MedlinePLUS

... Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education ... Guide to Down Syndrome & Alzheimer's Disease Age of Change Conference Research Research & Down Syndrome DS-Connect™: The ...

289

Genetics Home Reference: Job syndrome  

MedlinePLUS

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

290

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 ...

291

First Trimester Down Syndrome Screen  

MedlinePLUS

... high or low. In multiple gestation pregnancies (twins, triplets, etc.), calculation of the risk of Down syndrome ... What is Down syndrome? About 1 in 700 babies are born with Down syndrome (trisomy 21) each ...

292

Cubital tunnel syndrome  

PubMed Central

Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital tunnel syndrome was reviewed, and key papers on upper limb and hand surgery were discussed with colleagues. PMID:17267675

Cutts, Steven

2007-01-01

293

Nephrotic syndrome redux.  

PubMed

Redux: brought back, resurgent (Wikipedia free dictionary). This essay traces the history of the concepts that led to the usage of the term 'nephrotic syndrome' beginning ?90 years ago. We then examined the various definitions used for this syndrome and modified them to conform to contemporary standards. Remarkably, only minor modifications were required. This analysis of a common clinical entity may be helpful in ensuring appropriate evaluation of patients suffering from nephrotic syndrome and nephrotic-range proteinuria. PMID:24723546

Glassock, Richard J; Fervenza, Fernando C; Hebert, Lee; Cameron, J Stewart

2015-01-01

294

Paraneoplastic Visual Syndromes  

Microsoft Academic Search

\\u000a A paraneoplastic visual syndrome is a syndrome of cancer-related ocular dysfunction that is not due to either direct effects\\u000a of primary or metastatic tumor or treatment or treatment-related complications. Paraneoplastic visual syndromes are thought\\u000a to be principally autoimmune conditions in which the tumor expresses a neuronal antigen that triggers an immune response against\\u000a cross-reacting ocular antigens. Carcinoma-associated retinopathy (CAR), the

Anitha Raghunath; Jade S. Schiffman

295

Sturge–Weber syndrome  

Microsoft Academic Search

Introduction  Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75–90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that

C. Di Rocco; G. Tamburrini

2006-01-01

296

The ectopic ACTH syndrome  

Microsoft Academic Search

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

Krystallenia I. Alexandraki; Ashley B. Grossman

2010-01-01

297

Joint hypermobility syndrome pain  

Microsoft Academic Search

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

Rodney Grahame

2009-01-01

298

[False victimization syndrome].  

PubMed

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

Resch, Mária; Bella, Tamás

2011-04-01

299

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 July 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 18 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; soluble and insoluble fibre supplementation; and loperamide. PMID:21718578

2010-01-01

300

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

301

Acute nephritic syndrome  

MedlinePLUS

... rarely do they develop complications or progress to chronic glomerulonephritis and chronic kidney disease. Adults do not recover ... Chronic glomerulonephritis Congestive heart failure Nephrotic syndrome Pulmonary edema

302

[The Capgras syndrome].  

PubMed

The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia. PMID:23994927

Anikina, M A; Levin, O S

2013-01-01

303

Cushing's syndrome in pregnancy.  

PubMed

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

304

Laugier–Hunziker syndrome  

PubMed Central

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

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

2012-01-01

305

Organic brain syndrome  

MedlinePLUS

OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Listed below are disorders associated with OBS. Brain injury caused by ... the brain ( subarachnoid hemorrhage ) Blood clot inside the ...

306

Cyclic Vomiting Syndrome Association  

MedlinePLUS

... Wilson CVS Media Links Relevant Organizations Research Anxiety Risk in Youth with Cyclic Vomiting Syndrome: Threat Perception, Coping and Physiological Reactivity Participate in Research Studies ...

307

Paraneoplastic neurological syndromes  

PubMed Central

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

Leypoldt, F; Wandinger, K-P

2014-01-01

308

Urticarial vasculitis and urticarial autoinflammatory syndromes.  

PubMed

Urticaria is a frequent disorder classified as acute and chronic forms, which presents with wheals that can be associated with angioedema. Several entities may manifest with urticarial skin lesions, encompassing a heterogeneous group of conditions that have to be differentiated from ordinary urticaria. This review is focused on two of these urticarial syndromes: urticarial vasculitis (UV), which represents the most important differential diagnosis with common urticaria, and autoinflammatory diseases such as cryopyrin-associated periodic syndromes (CAPS) and Schnitzler's Syndrome, both rare multisystem forms that may masquerade as common urticaria. UV is a small-vessel vasculitis with predominant skin involvement, characterized by wheals persisting for more than 24 hours, burning rather than itching and resolving with hyperpigmentation as well as by other cutaneous manifestations including purpura, papules, vesicles, bullae and necrotic-ulcerative lesions. Histology shows a classic pattern of leukocytoclastic vasculitis, with possible presence of upper dermal edema. CAPS are classified as three distinct entities: familial cold autoinflammatory syndrome, Muckle-Wells Syndrome and chronic infantile neurological cutaneous and articular syndrome, which represent a spectrum of disorders caused by different mutations in a single gene, NLRP3 (NOD-like receptor 3). This gene encodes for cryopyrin, an inflammasome protein that activates interleukin-1?, leading to an overproduction of this pivotal proinflammatory cytokine. Histologically, urticarial lesions are generally characterized by a perivascular neutrophilic infiltrate. Unlike urticaria, neither UV nor urticarial autoinflammatory syndromes do respond to antihistamines: thus, it is important not to misdiagnose such conditions in order to give the patients specific treatments, potentially preventing serious systemic complications. PMID:25586657

Marzano, A V; Tavecchio, S; Venturini, M; Sala, R; Calzavara-Pinton, P; Gattorno, M

2015-02-01

309

Genetics Home Reference: Moebius syndrome  

MedlinePLUS

... Moebius syndrome? These resources address the diagnosis or management of Moebius syndrome and may include treatment providers. Boston Children's Hospital Cleveland Clinic Genetic Testing Registry: Oromandibular-limb ...

310

Compartment Syndrome in Open Tibial Fractures*t  

Microsoft Academic Search

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

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

311

Period problems: disorders of menstruation in adolescents.  

PubMed

Adolescence is a time of great psychological and physical change. In the UK, girls enter puberty around the age of 10 years with a median age of menarche of 12.9 years; thereafter, it may be several years before regular menstrual cycles are established. Variations in the type and the frequency of periods may create anxiety regarding ill health or serious underlying disorders. With the increase in childhood obesity and subsequent polycystic ovary syndrome, there is a greater awareness and presentation of girls with disorders of menstruation. This review focuses on normal variations of menses and common pathological causes of menstrual problems, including amenorrhoea, dysmenorrhoea and menorrhagia. Further consideration is given to the variations of presentation of polycystic ovary syndrome. It provides a guide to evaluate the various symptoms, investigations and management options. PMID:20576661

Peacock, A; Alvi, N S; Mushtaq, T

2012-06-01

312

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

313

Epidemiology of Down Syndrome  

ERIC Educational Resources Information Center

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

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

2007-01-01

314

Cauda equina syndrome  

Microsoft Academic Search

Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory

Judita Orendá?ová; Dáša ???žková; Jozef Kafka; Nadežda Luká?ová; Martin Maršala; Igor Šulla; Jozef Maršala; Nobuo Katsube

2001-01-01

315

Gammahydroxybutyrate withdrawal syndrome  

Microsoft Academic Search

Study Objective: Gamma-hydroxybutyrate (GHB) withdrawal syndrome is increasingly encountered in emergency departments among patients presenting for health care after discontinuing frequent GHB use. This report describes the characteristics, course, and symptoms of this syndrome. Methods: A retrospective review of poison center records identified 7 consecutive cases in which patients reporting excessive GHB use were admitted for symptoms consistent with a

Jo Ellen Dyer; Brett Roth; Bruce A. Hyma

2001-01-01

316

Cubital tunnel syndrome  

Microsoft Academic Search

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

Steven Cutts

2007-01-01

317

Tourette Syndrome (For Parents)  

MedlinePLUS

... are more severe or long lasting. If a child has tics for more than a year, it is called a chronic tic disorder. In some cases, these tics can be part of a condition called Tourette syndrome . The tics ... child cope with the condition. About Tourette Syndrome Tourette ...

318

The Othello Syndrome  

PubMed Central

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

Famuyiwa, Oluwole O.; Ekpo, Micheal

1983-01-01

319

The Othello syndrome.  

PubMed

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

Famuyiwa, O O; Ekpo, M

1983-02-01

320

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

321

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

322

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 ...

323

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

324

Turner Syndrome: Other FAQs  

MedlinePLUS

... aneurysm can rupture, which can be life-threatening. 3 [top] Can Turner syndrome be prevented? Turner syndrome cannot be prevented. It is a genetic problem that is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. ...

325

What Causes Cushing's Syndrome?  

MedlinePLUS

... that can cause this syndrome are alcohol dependence, depression or other psychiatric disorders, extreme obesity, pregnancy, and poorly controlled diabetes. 3 , 4 Nieman L. K., & Ilias, I. (2005). Evaluation and treatment of Cushing’s syndrome. Journal of American Medicine, 118 (12), 1340–1346. PMID ...

326

Lymphedema in Noonan's syndrome.  

PubMed

Chronic edema can be debilitating in Noonan's syndrome. Transient childhood lymphedema may be followed by elephantiasis as early as adolescence. Recurrent streptococcal cellulitis exacerbates this problem. Hygenic measures and prophylactic antiobiotic therapy may slow progression of lymphedema of the legs in Noonan's syndrome. PMID:6396246

White, S W

1984-12-01

327

Peripheral nerve hyperexcitability syndromes.  

PubMed

Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil ?brahim; Tüzün, Erdem; Öge, Ali Emre

2015-01-01

328

Hypereosinophilic Syndrome (HES)  

MedlinePLUS

Share | Hypereosinophilic Syndrome (HES) Overview Hypereosinophilic (hy-per-ee-o-sin-o-FILL-ick) Syndrome (HES) is a group of rare blood disorders. It ... 500 eosinophils/microliter in their blood. People with HES usually have more than 1,500 eosinophils/microliter ...

329

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)  

Microsoft Academic Search

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

B D Coppin; I K Temple

1997-01-01

330

[The refeeding syndrome].  

PubMed

- The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms.- The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1.- There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing.- Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations.- A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment. PMID:25827151

Lambers, W M; Kraaijenbrink, B; Siegert, C E H

2015-01-01

331

Gorlin-Goltz Syndrome  

PubMed Central

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

2014-01-01

332

Gorlin-goltz syndrome.  

PubMed

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

2014-03-01

333

Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.  

PubMed

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

Ferianec, Vladimír; Bartova, Michaela

2014-10-01

334

CHARLES BONNET SYNDROME: TWO CASE REPORTS  

PubMed Central

Two patients diagnosed to have Charles Bonnet syndrome are presented. In one of these, the symptoms were self limiting while in the other, the patient refused carbamazepine therapy despite persistence of symptoms. Both were followed up regularly over the four years, and mental status examination and investigations done during this period were within normal limits. Both are currently fully functional in their respective professions PMID:21743701

Unni, K.E. Sadanandan

1994-01-01

335

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

336

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

337

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

338

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

339

The metabolic syndrome in Bulgaria.  

PubMed

The prevalence of the metabolic syndrome (MetS), a cluster of central obesity, hyper/dyslipiemia, hyperglycemia, and hypertension is constantly increasing worldwide. Although, the exact mechanisms underlying the development of the MetS are not completely understood, modern lifestyle of physical inactivity and unhealthy nutrition, obesity, and their interaction with genetic factors are considered largely responsible. It has been convincingly demonstrated that the metabolic syndrome is associated with substantially increased risk for the development of type 2 diabetes mellitus, as well as, with increased cardiovascular disease (CVD) morbidity and mortality. The prevalence of obesity and type 2 diabetes in Bulgaria has dramatically increased in the last decades. For the same period CVD mortality in the country have also gradually increased and Bulgaria is nowadays among the countries with the highest macrovascular disease death rates in Europe. A number of epidemiological studies have demonstrated that the prevalence of the MetS and of its individual components has also increased during the last decades and is nowadays relatively high among the general population in Bulgarian and extremely high among high-risk individuals. Surprisingly, the prevalence of the MetS is also high among the low risk population in the country and most of its components that are independent predictors of CVD mortality are largely undiagnosed. Furthermore, the presence of the MetS is associated with history of myocardial infarction in the country. Although objective data is somewhat scarce, several studies have reported association of the low physical activity level and the unhealthy nutritional habits with the prevalence of cardiometabolic diseases among the Bulgarian population. Taking into account these observations it may be suggested that indeed the high metabolic syndrome prevalence that results as a consequence of unhealthy lifestyle is responsible for the extremely high CVD mortality rates in Bulgaria. Therefore, large-scale screening programmes should be undertaken within this population in combination with health prevention strategies promoting regular physical activity and improvement of nutritional habits. PMID:22708468

Stefanov, Tsvetan S; Temelkova-Kurktschiev, Theodora S

2011-01-01

340

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

341

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

342

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

343

Surgical treatment for kyphoscoliosis in Cohen syndrome.  

PubMed

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia. PMID:24640185

Imagama, Shiro; Tsuji, Taichi; Ohara, Tetsuya; Katayama, Yoshito; Goto, Manabu; Ishiguro, Naoki; Kawakami, Noriaki

2013-08-01

344

Anton's syndrome and eugenics.  

PubMed

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

Kondziella, Daniel; Frahm-Falkenberg, Siska

2011-06-01

345

Bouveret's Syndrome: diagnostic considerations  

SciTech Connect

Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome.

Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

1987-07-10

346

Syndrome In Question*  

PubMed Central

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. PMID:25672315

Maldonado, Gabriela; Peruzzo, Juliano; Tubone, Mariana Quirino; Reinehr, Clarissa Prieto Herman; Escobar, Gabriela Fortes

2015-01-01

347

Post-Concussion Syndrome  

Microsoft Academic Search

\\u000a The post-concussion syndrome (a.k.a., post-concussive disorder and post concussional disorder) has been controversial for\\u000a decades. Without question, an acute post-concussion syndrome can be caused by the neurobiology of a mild traumatic brain injury (MTBI). Without question, a post-concussion\\u000a syndrome can be worsened by psychological distress, social psychological factors (e.g., the nocebo effect, iatrogenesis, and\\u000a misattributions), personality characteristics, and co-occurring conditions

Grant L. Iverson; Rael T. Lange

348

Carpal tunnel syndrome diagnosis.  

PubMed

Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330

Sucher, Benjamin M; Schreiber, Adam L

2014-05-01

349

Melkersson-rosenthal syndrome.  

PubMed

Melkersson - Rosenthal syndrome was described by Melkersson and Rosenthal separately in the year 1928 and 1931 respectively. It is supposed to be a rare syndrome of bilateral alternating recurrent facial paralysis alongwith fissured tongue and oedema of the lips, face and eyelids. A case of Melkersson - Rosenthal syndrome is reported with all the classic findings which is a rarity. In this case there was alternating facial paralysis to begin with followed by bilateral paralysis third time, along with oedema of lips and face, fissured tongue, and dialation of sig-moid colon with absence of haustrations. PMID:23119566

Sharma, D R; Resident, S; Mohan, C; Minnas, R S; Mohindroo, N K; Sharma, M L

1999-10-01

350

Postinfluenza toxic shock syndrome.  

PubMed

Postinfluenza toxic shock syndrome is a recently described entity that results from a respiratory tract infection with toxin-producing Staphylococcus aureus following an episode of influenza or influenzalike illness. This report describes a 19-year-old man who developed an influenza B respiratory infection complicated by staphylococcal pneumonia and toxic shock syndrome. The patient improved rapidly with specific antibiotic therapy, emphasizing the importance of considering this otherwise highly lethal syndrome in any individual who becomes critically ill after an initial influenzalike illness. PMID:2651040

Prechter, G C; Gerhard, A K

1989-05-01

351

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

352

Iliotibial band friction syndrome  

PubMed Central

Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy. PMID:21063495

2010-01-01

353

National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium  

E-print Network

National Down Syndrome Society 21st Century Down Syndrome Research & Healthcare Symposium Linking Syndrome Society #12;Today's Presentation: Down Syndrome Advocacy, Action & System Change · Why Advocate · Down syndrome research policy landscape · How to advocate and get involved in our efforts

354

Pregnancy in congenital myasthenic syndrome.  

PubMed

Some case reports have suggested possible worsening of the clinical condition of patients with congenital myasthenic syndromes (CMS) during pregnancy. However, this risk has not yet been quantified in a significant number of patients. Using a standardized report form, we reviewed the gynecological and obstetrical medical history of all patients with CMS listed in the French Registry. The data were reviewed with the assistance of the patients to insure accuracy. We report on 17 pregnancies in eight patients with CMS with mutations in CHRNA1, CHRNE, CHRND, GFPT1, COLQ, or DOK7. Symptoms worsened for six patients during at least one of their pregnancies, and one patient required hospitalization in an intensive care unit during the post-partum period. One patient never recovered to the level of her pre-pregnancy clinical condition. Only one caesarean section was performed. The outcome for children was excellent, with the exceptions of a pulmonary artery atresia in the offspring of a mother on pyridostigmin and a newborn with a severe neonatal congenital myasthenic syndrome (an autosomic dominant slow channel transmission). Our study argues in favor of frequent clinical worsening of symptoms during pregnancy in patients with CMS. These patients should be closely followed by neurologists during the course of pregnancy. However, the overall clinical prognosis is good since the vast majority of patients recovered their pre-pregnancy clinical status six months after the delivery. PMID:23108489

Servais, L; Baudoin, H; Zehrouni, K; Richard, P; Sternberg, D; Fournier, E; Eymard, B; Stojkovic, T

2013-03-01

355

Tic disorders and Tourette's syndrome.  

PubMed

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

Plessen, Kerstin J

2013-02-01

356

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

357

Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns  

PubMed Central

Coffin Lowry syndrome is a rare disease involving multiple organ systems. From the anesthesiologists point of view it involves mental retardation, seizures, difficult airway, cardiac abnormalities (pediatric dilated cardiomyopathy) and skeletal deformities. We share our experience of management of a child with Coffin Lowry syndrome and also discuss the problems faced during perioperative period. PMID:23493967

Singh, P M; Baidya, Dalim K; Govindarajan, Srinivasa; Trikha, Anjan

2013-01-01

358

Physical Modeling of Airflow-Walls Interactions to Understand the Sleep Apnea Syndrome  

E-print Network

Introduction Sleep apnea is a disorder in which a person stops breathing during the night, usually for periodsPhysical Modeling of Airflow-Walls Interactions to Understand the Sleep Apnea Syndrome Yohan Payan1, France {pelorson,perrier}@icp.inpg.fr Abstract. Sleep Apnea Syndrome (SAS) is defined as a partial

Payan, Yohan

359

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

360

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

Microsoft Academic Search

During a 30-year period (1951–1981), seventeen patients underwent bilateral adrenalectomy for established adrenal medullary disease with catecholamine excess. Fourteen patients had the MEN IIa syndrome and 3 had the MEN IIb syndrome. There was no major operative morbidity and no operative mortality.

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

1984-01-01

361

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

362

Translationally controlled tumor protein is a novel biological target for neurofibromatosis type 1-associated tumors.  

PubMed

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

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

2014-09-19

363

Thoracic outlet syndrome  

MedlinePLUS

... outlet syndrome is a rare condition that involves pain in the neck and shoulder, numbness and tingling of the fingers, and a weak grip. The thoracic outlet is the area between the rib cage and collar bone.

364

Cri du chat syndrome  

MedlinePLUS

... slow growth Low-set or abnormally shaped ears Intellectual disability Partial webbing or fusing of fingers or toes ... Intellectual disability is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat- ...

365

Blueberries and Metabolic Syndrome  

Technology Transfer Automated Retrieval System (TEKTRAN)

Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

366

Chronic Fatigue Syndrome  

MedlinePLUS

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

367

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 ...

368

Cushing syndrome - exogenous  

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 ...

369

After Reye's Syndrome  

MedlinePLUS

... Support Reye's Syndrome Awareness and Education! Join Us! Android Apps & eBooks The NRSF Blog School and Health ... Reye's We've created an App for the Android phone and tablets all about Aspirin, from lists ...

370

The obesity hypoventilation syndrome.  

PubMed

We only need to look around us to see that we are in an epidemic of obesity and obesity-related medical problems. The obesity hypoventilation syndrome is a disorder in which an obese person with normal lungs chronically hypoventilates. Obesity impairs ventilatory mechanics, increases the work of breathing and carbon dioxide production, results in respiratory muscle dysfunction, and reduces ventilatory response to hypercapnia. Sleep-disordered breathing is present in most patients with the obesity hypoventilation syndrome. When noninvasive ventilation can be successfully introduced, hypoventilation can usually be corrected. Weight loss is the desirable long-term treatment for the obesity hypoventilation syndrome. This paper concisely overviews the physiologic factors that lead to the obesity hypoventilation syndrome and discusses therapies for it. PMID:19025709

Powers, Mark Anthony

2008-12-01

371

Nephrotic Syndrome in Adults  

MedlinePLUS

... only the kidneys, such as focal segmental glomerulosclerosis (FSGS) or membranous nephropathy. Diseases that affect only the ... for reasons that are not fully understood. In FSGS—the most common primary cause of nephrotic syndrome— ...

372

Frey's syndrome: case report.  

PubMed

Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

Haker, Jacqueline M; Mandel, Louis

2012-01-01

373

Fragile X Syndrome  

MedlinePLUS

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

374

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 ...

375

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 ...

376

Learning about WAGR Syndrome  

MedlinePLUS

... research trials on WAGR Syndrome conducted by other institutions and organizations: For more information, contact: The International ... Fund, Inc. [kidneyfund.org] A source for direct financial assistance to kidney patients and providing education to ...

377

Os Trigonum Syndrome  

MedlinePLUS

... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Os Trigonum Syndrome Text Size Print Bookmark ... extra (accessory) bone that sometimes develops behind the ankle bone (talus). It is connected to the talus ...

378

Tarsal Tunnel Syndrome  

MedlinePLUS

... ACFAS | Información en Español Advanced Search Home » Foot & Ankle Conditions » Tarsal Tunnel Syndrome Text Size Print Bookmark ... space that lies on the inside of the ankle next to the ankle bones. The tunnel is ...

379

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 ...

380

Crigler-Najjar syndrome  

MedlinePLUS

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

381

Polycystic Ovary Syndrome (PCOS)  

MedlinePLUS

... sleep Insulin resistance Metabolic syndrome, a group of risk factors for heart disease and type 2 diabetes Type 2 diabetes Obesity Heart disease and high blood pressure (cardiovascular disease) Mood disorders Endometrial hyperplasia and endometrial ...

382

Aging and Down Syndrome  

MedlinePLUS

... Down Syndrome Society Image Courtesy of Dennis Wilkes / Orange Grove Center www.ndss.org 15 Emotional and ... is very important. Image Courtesy of Dennis Wilkes / Orange Grove Center www.ndss.org 17 An Introduction ...

383

Pregnancy Complications: HELLP Syndrome  

MedlinePLUS

... the community. Home > Pregnancy > Pregnancy Complications > HELLP syndrome Pregnancy complications Pregnancy complications may need special medical care. ... to get pregnant again. Are gallstones common during pregnancy? Not common, but they do happen. Elevated hormones ...

384

Acute sarcoidosis: Löfgren's syndrome.  

PubMed

Sarcoidosis is a chronic multisystem granulomatous inflammatory disorder. It can present acutely which is known as Löfgren's syndrome. The diagnosis may be missed if clinicians are not aware of its classic presenting features and the appropriate diagnostic investigations. PMID:25761805

Kirresh, Othman; Schofield, John; George, Gerald

2015-03-01

385

Polycystic ovary syndrome  

MedlinePLUS

Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may ... PCOS is linked to changes in hormone levels that make it harder for the ovaries to release ...

386

Learning about Turner Syndrome  

MedlinePLUS

... in childhood conditions of the hormones and metabolism. Growth hormone injections are beneficial in some individuals with Turner ... Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome [clinicaltrials.gov] Current NHGRI ...

387

Dumping syndrome (image)  

MedlinePLUS

Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

388

Klippel-Trenaunay syndrome  

MedlinePLUS

... at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, and ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in early infancy, ...

389

Sudden Infant Death Syndrome  

MedlinePLUS

Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

390

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 ...

391

Heart and Down Syndrome  

MedlinePLUS

... Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education ... Shop NDSS Volunteer Fundraiser Focus My Great Story Virtual Storybook Submit Your Great Story My Great Story ...

392

The white dot syndromes.  

PubMed

The white dot syndromes are a heterogeneous group of rare inflammatory disorders affecting the retina, the retinal pigment epithelium, and the choroid. Not all of these diseases actually cause white dots, but they all have unique lesions in the fundus. We describe acute posterior multifocal placoid pigment epitheliopathy, serpiginous choroiditis, birdshot chorioretinopathy, multifocal choroiditis with panuveitis, diffuse subretinal fibrosis syndrome, punctate inner choroidopathy, multiple evanescent white dot syndrome, and diffuse unilateral subacute neuroretinitis as the white dot syndromes in this review. Some of these conditions share an association with systemic infectious diseases. In addition, treatment of these diseases is similar. Some can be treated with immunosuppressive therapy. Other treatment options include laser photocoagulation, topical or systemic steroid therapy, photodynamic therapy, and, most recently, anti-vascular endothelial growth factor agents. The new development in treatment may alter the visual prognosis of the patients, leading to a better outcome in visual acuity. PMID:17999832

Matsumoto, Yoko; Haen, Sebastian P; Spaide, Richard F

2007-01-01

393

CREST syndrome (image)  

MedlinePLUS

The symptoms involved in CREST syndrome are associated with the generalized form of the disease Systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease. The “C” stands ...

394

Zollinger-Ellison Syndrome  

MedlinePLUS

... J. Zollinger-Ellison syndrome. In: Yamada T, ed. Textbook of Gastroenterology . 5th ed. Hoboken, NJ: Blackwell Publishing; ... stomach, and duodenum for ulcers and esophagitis—a general term used to describe irritation and swelling of ...

395

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 ...

396

Thoracic Outlet Syndrome  

MedlinePLUS

... of TOS even more difficult is that a number of disorders feature symptoms similar to those of TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx ...

397

Living with Marfan Syndrome  

MedlinePLUS

... may give you antibiotics before certain medical or dental procedures that could raise your risk of endocarditis. Take all of your medicines as your doctor prescribes. Emergencies If you have Marfan syndrome, you're at ...

398

Gorlin-Goltz syndrome.  

PubMed

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

399

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

400

Muir-Torre Syndrome  

MedlinePLUS

... increases the risk for this hereditary cancer syndrome. Preimplantation genetic diagnosis (PGD) is a medical procedure done ... a complex procedure with financial, physical, and emotional factors for couples to consider before starting. For more ...

401

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

402

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

403

The acrocallosal syndrome  

Microsoft Academic Search

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and\\/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature

N. Philip; N. Apicella; I. Lassman; S. Ayme; J. F. Mattei; F. Giraud

1988-01-01

404

The Metabolic Syndrome  

Microsoft Academic Search

\\u000a The National Cholesterol Education Program’s Adult Treatment Panel III (ATP III) report [1] added the metabolic syndrome,\\u000a a multidimensional risk factor for cardiovascular disease (CVD), as a coequal partner of elevated low-density lipoprotein\\u000a (LDL) cholesterol for risk-reduction therapies. Interest in the metabolic syndrome has increased greatly since the publication\\u000a of the ATP III report. There are several aspects to the

Scott M. Grundy

405

Paraneoplastic neurological syndromes  

Microsoft Academic Search

Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, affecting less than 1\\/10,000 patients with cancer. Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. PNS can

Jérôme Honnorat; Jean-Christophe Antoine

2007-01-01

406

Acrocallosal syndrome: new findings.  

PubMed

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome. PMID:2729349

Moeschler, J B; Pober, B R; Holmes, L B; Graham, J M

1989-03-01

407

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

408

Williams-Beuren Syndrome  

Microsoft Academic Search

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

Stephen W. Scherer; Lucy R. Osborne

409

Shah-Waardenburg Syndrome  

PubMed Central

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

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

2013-01-01

410

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

411

Gorlin-Goltz syndrome  

PubMed Central

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-01-01

412

Gorlin-Goltz syndrome.  

PubMed

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-07-01

413

Gorlin-Goltz syndrome.  

PubMed

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S P S

2010-01-01

414

Gorlin-Goltz syndrome  

PubMed Central

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S.P.S.

2010-01-01

415

Pain syndromes in children  

Microsoft Academic Search

The pediatric rheumatologist cares for children who may have a wide variety of causes of musculoskeletal pain. These include\\u000a such diverse conditions as arthritis, low-back pain, hypermobility, metabolic bone pain, and amplified pain syndromes such\\u000a as complex regional pain syndrome and fibromyalgia. This review examines the recent literature on these and other conditions\\u000a causing musculoskeletal pain in children and adolescents.

David D. Sherry

2000-01-01

416

Genetic, chromosomal, and syndromic causes of neural tube defects  

PubMed Central

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

417

Accuracy of the clinical diagnosis of Down Syndrome  

E-print Network

Objectives- to determine the accuracy of clinical diagnosis of Down syndrome, identify problems in reaching a diagnosis, to provide recommendations for improvement and estimate a minimum prevalence for all types of Down syndrome. Design- A retrospective observational study was carried out over a five-year period. Genesis, a database located in the Department of Medical genetics, was used to identify the number of Down syndrome karyotypes including trisomy, translocation, and mosaic sample variants. Age of diagnosis was determined using date of receipt. Karyotyping requests for a clinical diagnosis of Down syndrome were also identified. Patient notes and cytogenetic laboratory reports were used to identify clinical indication for karyotyping. Setting- Regional Genetics Centre, covering all cytogenetic analyses for referrals within the entire Northern Ireland population. Results- 208 postnatal cases of Down syndrome were identified, 197 (94.7 %) trisomy, 3 (1.45 %) translocation, and 8 (3.85%) mosaic variants. 112 (54.8%) were male and 96 (46.2%) female. 268 samples were taken to confirm or exclude a clinical diagnosis of Down syndrome. 185 of these had Down syndrome, 77 were normal, and 6 had another abnormality. 90 % and 100 % of trisomy and

2004-01-01

418

[Guillain-Barre syndrome in children].  

PubMed

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

Macias Sánchez, R; Lara Toro, T

1976-01-01

419

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

420

Microdeletion 3q syndrome.  

PubMed

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

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

2011-11-01

421

[Chronic exertional compartment syndrome].  

PubMed

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

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

2013-10-01

422

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

PubMed Central

Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The first manifestation of these disorders are present in childhood and adolescence, but infrequently it may be presented in young and middle ages. Genetic base has been known for all types of periodic fever syndromes except periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). Common periodic fever disorders are Familial Mediterranean fever (FMF) and PFAPA. In each patient with periodic fever, acquired infection with chronic and periodic nature should be ruled out. It depends on epidemiology of infectious diseases. Some of them such as Familial Mediterranean fever and PFAPA are common in Iran. In Iran and other Middle East countries, brucellosis, malaria and infectious mononucleosis should be considered in differential diagnosis of periodic fever disorders especially with fever and arthritis manifestation. In children, urinary tract infection may be presented as periodic disorder, urine analysis and culture is necessary in each child with periodic symptoms. Some malignancies such as leukemia and tumoral lesions should be excluded in patients with periodic syndrome and weight loss in any age. After excluding infection, malignancy and cyclic neutropenia, FMF and PFAPA are the most common periodic fever disorders. Similar to other countries, Hyper IgD, Chronic Infantile Neurologic Cutaneous and Articular, TRAPS and other auto-inflammatory syndromes are rare causes of periodic fever in Iranian system registry. In part 1 of this paper we reviewed the prevalence of FMF and PFAPA in Iran. In part 2, some uncommon auto-inflammatory disorders such as TRAPS, Hyper IgD sydrome and cryopyrin associated periodic syndromes will be reviewed.

Ahmadinejad, Zahra; Mansori, Sedigeh; Ziaee, Vahid; Alijani, Neda; Aghighi, Yahya; Parvaneh, Nima; Mordinejad, Mohammad-Hassan

2014-01-01

423

24 CFR 203.266 - Period covered by periodic MIP.  

Code of Federal Regulations, 2010 CFR

...2010-04-01 false Period covered by periodic MIP. 203.266 Section 203.266 ...Obligations Mortgage Insurance Premiums-Periodic Payment § 203.266 Period covered by periodic MIP. The initial MIP shall...

2010-04-01

424

Symptoms and Diagnosis of Metabolic Syndrome  

MedlinePLUS

... Tools & Resources Stroke More Symptoms and Diagnosis of Metabolic Syndrome Updated:Nov 20,2014 What are the symptoms ... content was last reviewed on 05/14/2014. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

425

Genetics Home Reference: Rabson-Mendenhall syndrome  

MedlinePLUS

... and may include treatment providers. Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome You might also ... people use for Rabson-Mendenhall syndrome? Mendenhall syndrome pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia, insulin- ...

426

Learning about Cri du Chat Syndrome  

MedlinePLUS

... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

427

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 ...

Mrs. Cutting

2011-01-05

428

The pickwickian syndrome-obesity hypoventilation syndrome.  

PubMed

Obesity-hypoventilation syndrome (OHS), also historically described as the Pickwickian syndrome, consists of the triad of obesity, sleep disordered breathing, and chronic hypercapnia during wakefulness in the absence of other known causes of hypercapnia. Its exact prevalence is unknown, but it has been estimated that 10% to 20% of obese patients with obstructive sleep apnea have hypercapnia. OHS often remains undiagnosed until late in the course of the disease. Early recognition is important because these patients have significant morbidity and mortality. Effective treatment can lead to significant improvement in patient outcomes, underscoring the importance of early diagnosis. The authors review the definition and epidemiology of OHS, in addition to the current multifaceted understanding of the pathophysiology, and provide useful clinical approaches to diagnosis and treatment. PMID:19700045

Littleton, Stephen W; Mokhlesi, Babak

2009-09-01

429

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

430

Marfan syndrome: An eyesight of syndrome.  

PubMed

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

2014-12-01

431

Plant defense syndromes.  

PubMed

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. In either case, theory predicts that plant defense traits can consistently covary across species, due to shared evolutionary ancestry or due to adaptive convergence. We examined potential defense syndromes in 24 species of milkweeds (Asclepias spp.) in a field experiment. Employing phylogenetically independent contrasts, we found few correlations between seven defensive traits, no bivariate trade-offs, and notable positive correlations between trichome density and latex production, and between C:N ratio and leaf toughness. We then used a hierarchical cluster analysis to produce a phenogram of defense trait similarity among the 24 species. This analysis revealed three distinct clusters of species. The defense syndromes of these species clusters are associated with either low nutritional quality or a balance of higher nutritional quality coupled with physical or chemical defenses. The phenogram based on defense traits was not congruent, however, with a molecular phylogeny of the group, suggesting convergence on defense syndromes. Finally, we examined the performance of monarch butterfly caterpillars on the 24 milkweed species in the field; monarch growth and survival did not differ on plants in the three syndromes, although multiple regression revealed that leaf trichomes and toughness significantly reduced caterpillar growth. The discovery of convergent plant defense syndromes can be used as a framework to ask questions about how abiotic environments, communities of herbivores, and biogeography are associated with particular defense strategies of plants. PMID:16922309

Agrawal, Anurag A; Fishbein, Mark

2006-07-01

432

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

PubMed

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

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

2014-07-01

433

Periodic table(3)  

NSDL National Science Digital Library

This site not only provides a clickable-by-element resource for quickly finding physical properties of the elements (up to 109), but also provides students with puzzles to hone their ability to identify and place elements in their respective place in the periodic chart. Very useful for early learning of periodic placements.

Brian P. Reid

434

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.

Pamela Galus

2004-01-01

435

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

436

One of the Rarest Syndromes in Dentistry: Gardner Syndrome  

PubMed Central

Gardner syndrome is a rare, autosomal dominant syndrome. It will follow a positive course with diagnosis and treatment by medical and dental specialists. Orthodontists or general dental physicians can easily diagnose the syndrome through radiological images taken in addition to dental and skeletal findings. The aim of this study was therefore to report two cases of this syndrome and to evaluate it from an orthodontic perspective in order to attract the attention of orthodontists to this rare anomaly. PMID:19212549

Basaran, Guvenc; Erkan, Mustafa

2008-01-01

437

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)  

PubMed Central

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure. PMID:19032739

Lo Muzio, Lorenzo

2008-01-01

438

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

439

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

440

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.

441

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

442

Amount of HIV DNA in Peripheral Blood Mononuclear Cells is Proportional to the Severity of HIV-1-Associated Neurocognitive Disorders  

PubMed Central

Human immunodeficiency virus (HIV) DNA in peripheral blood mononuclear cells was previously associated with neuropsychological function. By including individuals encompassing the full range of HIV-1-associated neurocognitive disorders, this study reports results from subjects with normal cognition, minor cognitive motor disorder, and HIV-1-associated dementia. Individuals with normal cognition had relatively low HIV DNA levels compared to those with minor cognitive motor disorder and HIV-1-associated dementia. Neuropsychological deficits were significantly associated with entry HIV DNA in all domains. These findings demonstrate for the first time that the severity of HIV-1-associated neurocognitive disorders is proportional to the amount of circulating HIV DNA. PMID:19359454

Shiramizu, Bruce; Williams, Andrew E.; Shikuma, Cecilia; Valcour, Victor

2009-01-01

443

[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

444

Reversible cerebral vasoconstriction syndrome: a comprehensive update.  

PubMed

Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature. PMID:25138149

Mehdi, Ali; Hajj-Ali, Rula A

2014-09-01

445

Genetics Home Reference: Partington syndrome  

MedlinePLUS

... Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that ... signs and symptoms are often less severe. The intellectual disability associated with Partington syndrome usually ranges from mild ...

446

Chronic Fatigue Syndrome (CFS): Diagnosis  

MedlinePLUS

... please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome (CFS) can be complicated by a number ...

447

Toxic Shock Syndrome (For Parents)  

MedlinePLUS

... Lessons? Visit KidsHealth in the Classroom What Other Parents Are Reading Measles: What to Know Vaccines: FAQs ... Checkups: What to Expect Toxic Shock Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > Toxic Shock Syndrome Print ...

448

ARDS (Acute Respiratory Distress Syndrome)  

MedlinePLUS

... NHLBI on Twitter. What Is ARDS? ARDS, or acute respiratory distress syndrome, is a lung condition that leads to low ... obstructive pulmonary disease (COPD) or lower mortality from acute respiratory distress syndrome (ARDS), report two studies that rigorously tested the ...

449

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 ...

450

Fragile X Syndrome: Other FAQs  

MedlinePLUS

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

451

Families and Fragile X Syndrome  

MedlinePLUS

... Publications Scientific Research Planning Scientific Resources Research Families & Fragile X Syndrome: Index Skip sharing on social media links ... Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD ...

452

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 ...

453

Genetics Home Reference: Menkes syndrome  

MedlinePLUS

... syndrome? Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by ... not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. ...

454

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

455

Genetics Home Reference: Apert syndrome  

MedlinePLUS

... and Families Resources for Health Professionals What glossary definitions help with understanding Apert syndrome? acne ; autosomal ; autosomal ... receptor ; syndactyly ; syndrome ; upper jaw You may find definitions for these and many other terms in the ...

456

Genetics Home Reference: Asperger syndrome  

MedlinePLUS

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

457

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 ...

458

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 ...

459

Genetics Home Reference: Williams syndrome  

MedlinePLUS

... 500 to 10,000 people. What are the genetic changes related to Williams syndrome? Williams syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

460

Genetics Home Reference: Kleefstra syndrome  

MedlinePLUS

... other disorders with similar features. What are the genetic changes related to Kleefstra syndrome? Kleefstra syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

461

Genetic Features of Turner Syndrome  

MedlinePLUS

Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism X-defects Hereditary Aspects Figure 1. Gametogenesis Figure ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

462

Treatment Options for Myelodysplastic Syndromes  

MedlinePLUS

... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...

463

Genetics Home Reference: Turner syndrome  

MedlinePLUS

... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

464

Genetics Home Reference: Gilbert syndrome  

MedlinePLUS

... a mutation that changes a single protein building block (amino acid) in the bilirubin-UGT enzyme. This ... Gilbert syndrome? Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1* ...

465

Complex Regional Pain Syndrome (CPRS)  

MedlinePLUS

... Find a Hand Surgeon Complex Regional Pain Syndrome - CRPS Email to a friend * required fields From * To * ... Reflex Sympathetic Dystrophy (RSD) Complex regional pain syndrome (CRPS) is a pain condition that is constant over ...

466

Genetics Home Reference: GRACILE syndrome  

MedlinePLUS

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

467

Genetics Home Reference: Sotos syndrome  

MedlinePLUS

... names do people use for Sotos syndrome? cerebral gigantism Sotos sequence Sotos' syndrome For more information about ... cancer ; cell ; contiguous ; deletion ; disabilities ; disability ; DNA ; gene ; gigantism ; histone ; hyperactivity ; hypotonia ; incidence ; inheritance ; jaundice ; kidney ; methyl ; ...

468

Genetics Home Reference: Weaver syndrome  

MedlinePLUS

... and Families Resources for Health Professionals What glossary definitions help with understanding Weaver syndrome? autosomal ; autosomal dominant ; ... mutation ; philtrum ; prevalence ; protein ; syndrome You may find definitions for these and many other terms in the ...

469

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.  

PubMed

Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes. PMID:23808592

Shaaban, S; Duzcan, F; Yildirim, C; Chan, W-M; Andrews, C; Akarsu, N A; Engle, E C

2014-06-01

470

Kabuki syndrome revisited.  

PubMed

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

Bokinni, Yemisi

2012-04-01

471

Fat embolism syndrome  

PubMed Central

Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonary, cerebral and cutaneous dysfunction and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Treatment of fat embolism syndrome consists of general supportive measures, including splinting, maintenance of fluid and electrolyte balance and the administration of oxygen. Endotracheal intubation and mechanical ventilatory assistance can be indicated. The role of corticosteroids remains controversial. Early stabilization of long bone fractures has been shown to decrease the incidence of pulmonary complications. Clinical and experimental studies suggest that the exact method of fracture fixation plays a minor role in the development of pulmonary dysfunction. As more is learned about the specifics of the various triggers for the development of fat embolism syndrome, it is hoped that the prospect of more specific therapy for the prevention and treatment of this disorder will become a reality. PMID:9336522

Richards, Robin R.

1997-01-01

472

Changing the Perspective on Early Development of Rett Syndrome  

ERIC Educational Resources Information Center

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…

Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V.

2013-01-01

473

Primary Myelodysplastic Syndrome in Jordan: A Single-Centre Experience  

Microsoft Academic Search

Objective: Study of the disease patterns and clinical evaluation of myelodysplastic syndrome (MDS). Subjects and Methods: A retrospective analysis was carried out on 85 patients, with MDS who were followed up over a period of 23 years at Jordan University Hospital, Amman, Jordan. Cases were analyzed according to the French, American and British Classification. Results: Of the 85 patients, 42

Abdalla Awidi; Ahmad Magableh; Ziad Taimeh; Hashim Ayyad; Nazzal Bsoul; Musleh Tarawneh

2009-01-01

474

Surgical treatment of the Zollinger-Ellison syndrome  

Microsoft Academic Search

A consecutive series of patients with Zollinger-Ellison syndrome (ZES) is reported. A total of 53 cases were diagnosed, treated, and followed by one department during the period 1971–1990. Curative surgery was considered in all cases after suppression of acid secretion and after localization of the tumors. Exploratory laparotomy was not employed. Of the 53 patients 13 (24%) died from metastatic

F. Stadil; L. Bardram; J. Gustafsen; F. Efsen

1993-01-01

475

Laryngeal findings and voice quality in Sjögren's syndrome  

Microsoft Academic Search

Objective:The effect of Sjögren syndrome (SS) on perceptual ratings of the laryngeal findings using the Reflux Finding Score (RFS) and the Reflux Symptom Index (RSI) and the objective voice quality using Jitter (JITT), Pitch Period Perturbation Quotient (PPQ), Shimmer (Shim), Amplitude Perturbation Quotient (APQ) and Noise-to-Harmonic Ratio (NHR) was examined.

Fatih Ogut; Rasit Midilli; Gonca Oder; Erkan Zeki Engin; Bulent Karci; Yasemin Kabasakal

2005-01-01

476

Studies on a depressed egg production syndrome in Northern Ireland  

Microsoft Academic Search

A syndrome causing depressed egg production is described. It is characterised either by a failure to attain predicted production targets or by a fall in egg numbers. The depression in production can reach 30% and it may or may not return to normal. For a short period the eggs produced are smaller, lose colour, have poor egg shell strength and

J. B. McFerran; R. M. McCracken; Eileen R. McKillop; M. S. McNulty; D. S. Collins

1978-01-01

477

Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome  

Microsoft Academic Search

The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the

Bernard L. Maria; Eugen Boltshauser; Scott C. Palmer; Thang X. Tran

1999-01-01

478

Genital ulcer as a new clinical clue to PFAPA syndrome.  

PubMed

Vaginal ulcers can be associated with a number of different diseases. We describe two girls who presented genital ulcers as a persistent symptom of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome. The possibility of considering this clinical manifestation as a clue for the diagnosis of PFAPA is discussed. PMID:25511245

Scattoni, R; Verrotti, A; Rinaldi, V E; Paglino, A; Carelli, A; D'Alonzo, R

2015-04-01

479

Phenotypical variability of post-partum reversible cerebral vasoconstriction syndrome  

PubMed Central

Reversible cerebral vasoconstriction syndrome is recognized increasingly as a complication of the postpartum period. Our series of four cases illustrates its phenotypical variability, summarizes the diagnostic work-up, and outlines potential treatment strategies for this usually benign but sometimes disabling and life-threatening disease. PMID:21577330

Matosevic, Benjamin; Furtner, Martin; Knoflach, Michael; Schmidauer, Christoph; Wille, Georg; Gotwald, Thaddaeus; Kiechl, Stefan; Willeit, Johann

2010-01-01

480

The residual ovary syndrome: a 20-year experience  

Microsoft Academic Search

Objective: To address the controversy of ovarian preservation during a hysterectomy for benign indications by using our experience with residual ovary syndrome (ROS). Study design: Over a period of 20 years, 2561 hysterectomies (during which one or both ovaries were preserved) were performed at the Golda Medical Center, Israel. A retrospective, quasi, case-control analysis was undertaken. Results: The incidence of

Arie Dekel; Zeev Efrat; Raoul Orvieto; Tally Levy; Dov Dicker; Rivka Gal; Zion Ben-Rafael

1996-01-01

481

Periodized Daubechies wavelets  

SciTech Connect

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

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

1996-03-01

482

Periodic boundary conditions  

NSDL National Science Digital Library

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

Iacovella, Christopher R.

2006-09-24

483

Periodically poled silicon  

NASA Astrophysics Data System (ADS)

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

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

2009-03-01

484

Reye syndrome: an international perspective.  

PubMed

An international perspective of Reye syndrome provides insights not noticeable with a parochial perspective. Sources of variation in Reye syndrome include geographic factors. The disappearance of Reye syndrome occurred globally, raising doubts about the importance of regional efforts to eliminate specific putative causes. PMID:8882577

Stumpf, D A

1995-01-01

485

Down Syndrome Is for Life.  

ERIC Educational Resources Information Center

This paper presents Down's syndrome as a part of the human race's rich biological inheritance rather than a condition to be pitied. The history of the discovery of the biological basis of Down's syndrome is reviewed, along with attitudes toward individuals with Down's syndrome over time and developments in medicine and education. (JDD)

Stratford, Brian

1994-01-01

486

Urinary Peptides in Rett Syndrome.  

ERIC Educational Resources Information Center

A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

2002-01-01

487

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

488

Paraneoplastic syndromes in prostate cancer  

Microsoft Academic Search

Prostate cancer is the second most common urological malignancy to be associated with paraneoplastic syndromes after renal cell carcinoma. These syndromes tend to occur in the setting of late stage and aggressive tumors with poor overall outcomes. Recognition of these syndromes is clinically important as it might lead to the detection of underlying malignancy and impact on the treatment options

Jennifer Kong; Benjamin Namdarian; Anthony Longano; Jeremy Grummet; Christopher M. Hovens; Anthony J. Costello; Niall M. Corcoran; Matthew K. Hong

2010-01-01

489

Syndrome by Any Other Name. . .  

ERIC Educational Resources Information Center

The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

Bowers, Drew

2008-01-01

490

An Overview of Down Syndrome.  

ERIC Educational Resources Information Center

This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

Pueschel, Siegfried M.

491

CHARGE Syndrome: An Educators' Primer  

ERIC Educational Resources Information Center

This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…

Smith, Katherine G.; Smith, Isabel M.; Blake, Kim

2010-01-01

492

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

493

Metabolic syndrome and asthma.  

PubMed

Metabolic syndrome (MetS) is a syndrome that involves at least three disorders dyslipidemia, insulin resistance, obesity and/or hypertension. MetS has been associated with several chronic diseases in the adulthood; however, in the recent years, the syndrome was redefined in children. Girls with early menarche and asthma, and children with MetS and asthma that reach adulthood appear to have higher risk to develop severe or difficult to control asthma and a higher probability to suffer cardiovascular diseases. It has been proposed that patients with MetS and endocrinological disorders should be considered a different entity in which pharmacologic treatment should be adjusted according to the individual. Recent patents on the field have addressed new issues on how endocrine control should be managed along with asthma therapeutics. In the near future, new approaches should decrease the high morbidity and mortality associated to these types of patients. PMID:24397782

Garmendia, Jenny V; Moreno, Dolores; Garcia, Alexis H; De Sanctis, Juan B

2014-01-01

494

The Antiphospholipid Syndrome  

PubMed Central

Summary The antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the clinical association of antiphospholipid autoantibodies (aPL) with a syndrome of hyper-coagulability that can affect any blood vessel, irrespective of type or size. Involvement of larger vessels, such as arteries or veins, manifests in the form of thrombosis or embolism, whereas involvement of smaller vessels, including capillaries, arterioles, and venules, manifests as thrombotic microangiopathy. Virtually any organ in the body, including the kidney, can be affected. Here, we review the basic principles and recent advances in our understanding of APS, and discuss the broad spectrum of renal diseases that have been observed in association with this syndrome. We also discuss the impact that APS may have on pre-existing renal disease as well as current recommendations for treatment of APS. PMID:17336687

Fischer, Michael J.; Rauch, Joyce; Levine, Jerrold S.

2012-01-01

495

[White dot syndrome].  

PubMed

The white dot syndromes comprise a group of diseases with a suspected immunological background, which show no systemic manifestations. The characteristic inflammatory changes of the choroid and the retinal pigment epithelium are typically yellow-white foci beneath the retina. Diseases belonging to the white dot syndromes which will be discussed in this article are acute multifocal placoid pigment epitheliopathy (AMPPE), multiple evanescent white dot syndrome (MEWDS), birdshot retinochoroidopathy (BSRC), multifocal choroiditis with panuveitis (MFC/MCP), punctuate inner choroidopathy (PIC), acute zonal occult outer retinopathy (AZOOR) and serpiginous choroiditis, Neither the trigger mechanism nor the pathogenetic development is known with certainty for any of these diseases. Immunological reactions to previous viral infections coupled with a genetic predisposition seem to be a common denominator. Transitions between the individual diseases have also been described. PMID:18210124

Göbel, W

2008-01-01

496

Shwachman's syndrome and leukaemia.  

PubMed

The clinical and morphological characteristics of Shwachman's syndrome (exocrine pancreatic insufficiency, pancytopenia, skeletal changes) were observed in a boy who, at the age of 8 years, developed a juvenile form of chronic myeloic leukemia which did not respond to cytostatic treatment. Autopsy revealed a striking lipomatous atrophy of the pancreas, defects in the ossification zones of the bones and marked dwarfism. In addition there was leukaemic infiltration of the pancreas, the spleen, the liver and the lymph nodes. The association of Shwachman's syndrome with leukaemia is a rare, but remarkable complication of this entity because of its relationship to the preceeding pancytopenia. Thorough follow-up of the haematological status of patients with Shwachman's syndrome is recommended. PMID:162096

Caselitz, J; Klöppel, G; Delling, G; Grüttner, R; Holdhoff, U; Stern, M

1979-12-01

497

[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

498

Postural Orthostatic Tachycardia Syndrome  

PubMed Central

The postural orthostatic tachycardia syndrome is a disease characterized by excessively increased heart rate during orthostatic challenge associated with symptoms of orthostatic intolerance including dizziness, exercise intolerance, headache, fatigue, memory problems, nausea, blurred vision, pallor, and sweating, which improve with recumbence. Postural orthostatic tachycardia syndrome patients may present with a multitude of additional symptoms that are attributable to vascular vasoconstriction. Observed signs and symptoms in a patient with postural orthostatic tachycardia syndrome include tachycardia at rest, exaggerated heart rate increase with upright position and exercise, crushing chest pain, tremor, syncope, loss of vision, confusion, migraines, fatigue, heat intolerance, parasthesia, dysesthesia, allodynia, altered traditional senses, and thermoregulatory abnormalities. There are a number of possible dermatological manifestations of postural orthostatic tachycardia syndrome easily explained by its recently discovered pathophysiology. The author reports the case of a 22-year-old woman with moderate-to-severe postural orthostatic tachycardia syndrome with numerous dermatological manifestations attributable to the disease process. The cutaneous manifestations observed in this patient are diverse and most noticeable during postural orthostatic tachycardia syndrome flares. The most distinct are evanescent, hyperemic, sharply demarcated, irregular patches on the chest and neck area that resolve upon diascopy. This distinct “evanescent hyperemia” disappears spontaneously after seconds to minutes and reappears unexpectedly. Other observed dermatological manifestations of this systemic disease include Raynaud’s phenomenon, koilonychia, onychodystrophy, madarosis, dysesthesia, allodynia, telogen effluvium, increased capillary refill time, and livedo reticularis. The treatment of this disease poses a great challenge. The author reports the unprecedented use of an oral angiotensin II type 1 receptor antagonist resulting in remarkable improvement. PMID:25161760

2014-01-01

499

Dysmenorrhea: Painful Periods  

MedlinePLUS

... dysmenorrhea? Glossary What is dysmenorrhea? Pain associated with menstruation is called dysmenorrhea . How common is dysmenorrhea? Dysmenorrhea ... the menstrual period? Pain usually occurs right before menstruation starts, as the level of prostaglandins increases in ...

500

Fourier series and periodicity  

E-print Network

A large number of the classical texts dealing with Fourier series more or less state that the hypothesis of periodicity is required for pointwise convergence. In this paper, we highlight the fact that this condition is not necessary.

Donal F. Connon

2014-12-07