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Sample records for stickler syndrome arthro-ophthalmopathy

  1. Osteoarthritis at Young Age, a Diagnostic Challenge: A Case of Stickler Syndrome

    PubMed Central

    de Wergifosse, Isabelle; Westhovens, Rene

    2014-01-01

    A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient’s mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluation with an extensive personal and familial history pointed towards a diagnosis of Stickler syndrome, an autosomal dominant condition with progressive arthro-ophthalmopathy, (early osteoarthritis and myopia). Following this timely diagnosis, genetic counselling was offered. PMID:25598853

  2. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

    SciTech Connect

    Ritvaniemi, P.; Hyland, J.; Kivirikko, K.I. ); Ignatius, J. ); Prockop, D.J. ); Ala-Kokko, L. Thomas Jefferson Univ., Philadelphia, PA )

    1993-07-01

    A series of oligonucleotide primers was designed to generate polymerase chain reaction products that contained exons 6 to 49 of the human gene for type II procollagen (COL2A1) and that could be used to detect sequence variations by denaturing gradient gel electrophoresis. To improve the sensitivity of the analysis, GC clamps were introduced into one primer of each pair. The procedure successfully detected 10 neutral single-base variations in the gene. In addition, the procedure detected a single-base deletion in exon 43 that introduced a premature termination codon in exon 44 and caused the Stickler syndrome (arthro-ophthalmopathy) in one family. The mutation is the fourth mutation in the COL2A1 gene shown to cause the Stickler syndrome. The mutation is similar to the first three mutations causing the disease in that they also introduced premature termination signals. Since only one mutation introducing a premature termination codon was found in the course of defining 120 or more mutations in type I and III procollagens, the results suggest that such mutations may have a special relationship to the Stickler syndrome. 13 refs., 3 figs., 1 tab.

  3. Genetics and Hearing Loss: A Review of Stickler Syndrome.

    ERIC Educational Resources Information Center

    Nowak, Catherine Bearce

    1998-01-01

    Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and speech-language pathologists should be familiar with the characteristics associated with Stickler

  4. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

    PubMed Central

    Fryer, A E; Upadhyaya, M; Littler, M; Bacon, P; Watkins, D; Tsipouras, P; Harper, P S

    1990-01-01

    A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous. PMID:2319589

  5. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

    PubMed Central

    Ahmad, N N; McDonald-McGinn, D M; Dixon, P; Zackai, E H; Tasman, W S

    1996-01-01

    Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and other systemic manifestations (hearing loss, cleft palate, epiphyseal dysplasia, and premature osteoarthritis). As with other dominantly inherited conditions, the clinical phenotype of Stickler syndrome varies considerably. To date, all mutations have been located in the type II procollagen (COL2A1) gene. Analysis of a C-->T mutation we had identified previously, in COL2A1 gene in exon 40, in a three generation pedigree showed the loss of a cleavage site for the TaqI restriction enzyme. We designed a rapid PCR based restriction enzyme assay to detect this mutation and used it to establish the diagnosis in a neonate from the same pedigree, presenting with the first occurrence of the Pierre-Robin sequence in the family and minimal ocular findings. These results underline the potential diagnostic value of many as yet undetected DNA mutations in families affected with Stickler syndrome, since the variability of the phenotype can impede accurate diagnosis, appropriate genetic counselling, and effective intervention and prophylactic treatment for affected people. Images PMID:8863161

  6. Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia

    PubMed Central

    Alshahrani, Saeed T; Ghazi, Nicola G; Al-Rashaed, Saba

    2016-01-01

    Purpose To investigate the clinical findings and outcomes of rhegmatogenous retinal detachment (RRD) in Stickler syndrome on affected and fellow eyes that underwent prophylactic retinopexy. Patients and methods Chart review of 70 eyes (62 patients). Incidence of RRD, postoperative visual acuity, and risk factors were evaluated. Results Twenty-two patients (35%) had RRD in the fellow eye, 37% of the eyes had cataract, 93% had macular detachment, 50% had proliferative vitreoretinopathy, and 41% had posterior vitreous detachment. Success rates were: 60% of patients after scleral buckling; 57.1% after pars plana vitrectomy; and 75% after combined scleral buckling and pars plana vitrectomy. Sixty-one (93.8%) of patients had successful surgery (including second surgery). Silicone oil tamponade was significantly associated with final anatomic outcome, with a protective odds ratio of 0.11 (P=0.027). Visual acuity improved in 54% of eyes and decreased in 5%. Statistically significant associations were present for eyes with final visual acuity ?20/200, and total retinal detachment (P<0.001); preoperative cataract (P=0.023); and proliferative vitreoretinopathy (P<0.001). RRD developed in 16/44 eyes despite laser prophylaxis. Conclusion Prophylactic retinopexy was not beneficial for Stickler syndrome patients. Success of primary surgery for RRD remains low. The primary surgery should be vitrectomy combined with scleral buckling and silicone oil tamponade.

  7. Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome.

    PubMed

    Al Kaissi, A; Roschger, P; Nawrot-Wawrzyniak, K; Krebs, A; Grill, F; Klaushofer, K

    2010-02-01

    We describe a tall-statured 14-year-old boy who illustrated the full phenotypic and radiographic features of Stickler syndrome type I. A bone biopsy showed evidence of reduced bone mass and bone turnover, such as reduced BV/TV (-43%), TbTh (-29%), and OS/BS (-48%), Ob.S/BS (-27%), and Oc/BS (-47%) compared to "age-matched" controls. Moreover, there was evidence that the mineralization process was severely disturbed. Quantitative backscattered electron imaging revealed that the bone mineralization density distribution (BMDD) of cancellous (Cn) as well as cortical (Ct) bone was shifted toward lower mineralization compared to a young control reference cohort. BMDD parameters of mean degree of mineralization, Cn Ca (-9.8%) and Ct Ca (-18.0%), were dramatically decreased. To the best of our knowledge this is the first clinical report describing bone biopsy findings in a boy with Stickler syndrome. Such a severe undermineralization of bone matrix might essentially contribute to the compromised mechanical competence of the skeleton found in this patient. PMID:20012270

  8. Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    PubMed Central

    Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A; Leroy, Jules G; Bendix, Laila; Björck, Erik; Bonduelle, Maryse; Boute, Odile; Cormier-Daire, Valerie; De Die-Smulders, Christine; Dieux-Coeslier, Anne; Dollfus, Hélène; Elting, Mariet; Green, Andrew; Guerci, Veronica I; Hennekam, Raoul C M; Hilhorts-Hofstee, Yvonne; Holder, Muriel; Hoyng, Carel; Jones, Kristi J; Josifova, Dragana; Kaitila, Ilkka; Kjaergaard, Suzanne; Kroes, Yolande H; Lagerstedt, Kristina; Lees, Melissa; LeMerrer, Martine; Magnani, Cinzia; Marcelis, Carlo; Martorell, Loreto; Mathieu, Michèle; McEntagart, Meriel; Mendicino, Angela; Morton, Jenny; Orazio, Gabrielli; Paquis, Véronique; Reish, Orit; Simola, Kalle O J; Smithson, Sarah F; Temple, Karen I; Van Aken, Elisabeth; Van Bever, Yolande; van den Ende, Jenneke; Van Hagen, Johanna M; Zelante, Leopoldo; Zordania, Riina; De Paepe, Anne; Leroy, Bart P; De Buyzere, Marc; Coucke, Paul J; Mortier, Geert R

    2010-01-01

    Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analyzing mRNA. Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different COL2A1 mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were found more frequently in patients with a COL2A1 mutation compared with the mutation-negative group (P<0.01). Overall, 20 of 23 sporadic patients with a COL2A1 mutation had either a cleft palate or retinal detachment with vitreous anomalies. The presence of vitreous anomalies, retinal tears or detachments, cleft palate and a positive family history were shown to be good indicators for a COL2A1 defect. In conclusion, we confirm that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the COL2A1 gene as >90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome. PMID:20179744

  9. Linkage analysis in a family with Stickler syndrome leads to the exclusion of the COL2A1 locus

    SciTech Connect

    Mottes, M.; Zolezzi, F.; Pignatti, P.F.

    1994-09-01

    Hereditary arthro-ophtalmopathy (AO) or Stickler Syndrome (MIM No. 10830) is a dominantly inherited disorder characterized by vitro-retinal degeneration and other connective tissue disturbances. Mutations in the COL2A1 gene, coding for type II collagen chains, have been described in a few patients. The wide spectrum of clinical manifestations is presumably due to genetic heterogeneity, since only about 50% of the Stickler families so far studied show cosegregation of the disease with the COL2A1 locus. We have investigated a large pedigree (19 individuals of whom 9 are affected) in which severe myopia with vitro-retinal degeneration consegregated with joint laxity, recurrent inguinal hernias, and degenerative changes of the hip and the knee. The 3{prime} end COL2A1 VNTR polymorphism was utilized for linkage analysis. In order to get the maximum informativity, we have analyzed the allelic microheterogeneity of this VNTR, due to the repeat sequence variation, by means of a single strand polymorphism. Mendelian inheritance of the different single strands was observed as expected. Discordance of segregation between the disease and the COL2A1 locus was thus established inequivocally in this family.

  10. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.

    PubMed

    Yoon, Je Moon; Jang, Mi Ae; Ki, Chang Seok; Kim, Sang Jin

    2016-03-01

    Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea. PMID:26709265

  11. Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

    E-print Network

    Vijzelaar, Raymon; Waller, Sarah; Errami, Abdellatif; Donaldson, Alan; Lourenco, Teresa; Rodrigues, Marcia; McConnell, Vivienne; Fincham, Gregory; Snead, Martin; Richards, Allan

    2013-04-26

    _080629.2 this deletion would encompass c.781-3312, p.Lys261-Pro1104. Patient 2 The proband (female) was seen at age 14 years and was found to have abnormal vitreous gel architecture, with a beaded phenotype. She had a flat midface with nasal bridge... ://www.biomedcentral.com/1471-2350/14/48 1A n 4 Vijzelaar et al. BMC Medical Genetics 2013, 14:48 Page 5 of 6 http://www.biomedcentral.com/1471-2350/14/48and a flattened nasal bridge) suggestive of Stickler syn- drome. No sensorineural hearing loss was demonstrated...

  12. Genetics Home Reference: Stickler syndrome

    MedlinePLUS

    ... complex molecules that provide structure and strength to connective tissues that support the body's joints and organs. Type ... collagen are components of vitreous, cartilage, and other connective tissues. Mutations in any one of these genes impair ...

  13. Stickler takes the helm at MSHA

    SciTech Connect

    Fiscor, S.

    2006-12-15

    New agency director of the USA's Mine Safety and Health Administration (MSHA), Richard E. Stickler, inherits responsibility for implementing the Mine Improvement and New Emergency Response (MINER) Act amidst one of the US coal industry's most unsafe periods. The article gives an outline of the new leader's career in the coal industry and presents his views on the importance and the implementation of the Act. Stickler's No.1 priority is to do everything he can to protect the health and safety of America's miners. He believes that the goal for everyone in the mining community should be to achieve zero injuries and zero fatalities, and put an end to occupational illness.

  14. Marshall-Stickler phenotype associated with von Willebrand disease

    SciTech Connect

    MacDonald, M.R.; Baker, K.S.; Schaefer, G.B.

    1997-01-20

    We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von Willebrand disease (vWD). MS syndrome has been linked in some cases to the type II procollagen gene (COL2A1) on chromosome 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (vWF) is encoded by a 180-Kb gene located on the short arm of chromosome 12. This is the first reported association of these two disorders. 26 refs., 5 figs., 1 tab.

  15. When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.

    PubMed

    Cattalini, Marco; Khubchandani, Raju; Cimaz, Rolando

    2015-01-01

    Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we provide information on Benign Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz syndrome and Stickler syndrome, and discuss their characteristics and clinical management. PMID:26444669

  16. Metabolic Syndrome

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Metabolic Syndrome KidsHealth > Teens > Diabetes Center > Treatment & Prevention > Metabolic Syndrome ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  17. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  18. Cushing's Syndrome

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    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  19. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  20. Metabolic syndrome

    MedlinePLUS

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

  1. Gardner Syndrome

    MedlinePLUS

    ... Gardner syndrome? Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP) , which usually causes benign, ... is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation, meaning an alteration in the APC ...

  2. Down Syndrome

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    ... NICHD Research Information Clinical Trials Resources and Publications 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 ...

  3. Down Syndrome

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    ... 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? Down syndrome is not contagious , so you can' ...

  4. Cushing's Syndrome

    MedlinePLUS

    ... being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare endocrine ... and cure the disorder. NIH Patient Recruitment for Cushing's Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

  5. 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 ...

  6. 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 ...

  7. [Syndromes 12. Turner syndrome].

    PubMed

    Verdonck, A; van Erum, R

    1999-07-01

    Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan. PMID:11930372

  8. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... brought about by birth defect, disease or trauma. Apert syndrome Carpenter syndrome Carpenter Syndrome belongs to a group ... FAQs CCAkids Blog CCA Web Store Cher Syndromes • Apert syndrome • Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • ...

  9. Usher Syndrome

    MedlinePLUS

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  10. Hunter syndrome

    MedlinePLUS

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

  11. 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," ...

  12. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  13. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  14. Marfan Syndrome

    MedlinePLUS

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

  15. Cushing syndrome

    MedlinePLUS

    Cushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol. ... The most common cause of Cushing syndrome is taking too much ... of this type of medicine. Glucocorticoids mimic the action ...

  16. Cushing's Syndrome

    MedlinePLUS

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  17. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... Is there any treatment? There is no specific therapy for Angelman syndrome. Medical therapy for seizures is ...

  18. 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 ...

  19. 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. ...

  20. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

  1. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes. PMID:19280943

  2. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases. PMID:19434382

  3. Why Metabolic Syndrome Matters

    MedlinePLUS

    ... High Blood Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  4. Reiter's syndrome.

    PubMed

    Schneider, Joseph M; Matthews, Jeanette H; Graham, Bradley S

    2003-03-01

    Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis. PMID:12661746

  5. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. PMID:26259326

  6. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  7. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  8. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

  9. Aicardi syndrome

    MedlinePLUS

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

  10. Tourette Syndrome

    MedlinePLUS

    ... Tourette (pronounced: tuh-RET) syndrome, named for the French doctor Georges Gilles de la Tourette, who first ... get the condition. Doctors and researchers are continually learning new information about TS and what might lead ...

  11. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ? Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  12. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  13. Duane Syndrome

    MedlinePLUS

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  14. Potter syndrome

    MedlinePLUS

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  15. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  16. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  17. Usher Syndrome

    MedlinePLUS

    ... called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) ... to progress rapidly until the person is completely blind. Type 2 Children with type 2 Usher syndrome ...

  18. Neurocutaneous Syndromes

    MedlinePLUS

    ... local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be ... site. Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  19. Serotonin syndrome

    MedlinePLUS

    ... syndrome will be considered. Tests may include: Blood cultures (to check for infection) Complete blood count (CBC) CT scan of the brain Drug (toxicology) and alcohol screen Electrolyte levels Electrocardiogram (ECG) Kidney and liver ...

  20. Sjogren's Syndrome

    MedlinePLUS

    ... recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. What research is being done? The goals of research on disorders such as Sjögren's syndrome ...

  1. Bartter syndrome

    MedlinePLUS

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

  2. Marfan Syndrome

    MedlinePLUS

    ... de fácil lectura) Other Information Heritable Disorders of Connective Tissue, Q&A Order a NIAMS publication to be ... syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to ...

  3. Marfan Syndrome

    MedlinePLUS

    ... disorder in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think of ... a special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in ...

  4. Marfan Syndrome

    MedlinePLUS

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

  5. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  6. 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

  7. 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 ...

  8. Metabolic Syndrome

    MedlinePLUS

    ... to Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... to insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  9. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  10. Klinefelter syndrome

    MedlinePLUS

    ... arthritis , and Sjogren syndrome Breast cancer in men Depression Learning disabilities, including dyslexia, which affects reading A rare type of tumor called an extragonadal germ cell tumor Lung disease Osteoporosis Varicose veins

  11. Fanconi syndrome

    MedlinePLUS

    ... common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys Wilson's disease ...

  12. 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 ...

  13. 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 ...

  14. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact ... en Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition caused ...

  15. Post-Polio Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome ... Español Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

  16. Shaken Baby Syndrome

    MedlinePLUS

    NINDS Shaken Baby Syndrome Information Page Table of Contents (click to jump to sections) What is Shaken Baby Syndrome? Is there ... Trials Organizations Publicaciones en Español What is Shaken Baby Syndrome? Shaken baby syndrome is a type of ...

  17. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  18. Facts about Down Syndrome

    MedlinePLUS

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... families affected by Down syndrome » What is Down Syndrome? Down syndrome is a condition in which a ...

  19. Miller Fisher Syndrome

    MedlinePLUS

    NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents (click to jump to sections) What is Miller Fisher ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired ...

  20. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  1. Compartment syndromes

    NASA Technical Reports Server (NTRS)

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

    1989-01-01

    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.

  2. Flammer syndrome

    PubMed Central

    2014-01-01

    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

  3. Flammer syndrome.

    PubMed

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

    2014-01-01

    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

  4. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    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.…

  5. Levator Syndrome

    MedlinePLUS

    ... Normal (News) Small Hospitals Seeing More Drug-Resistant E. Coli Infections Additional Content Medical News Levator Syndrome By Parswa ... News HealthDay Small Hospitals Seeing More Drug-Resistant E. Coli Infections WEDNESDAY, Oct. 14, 2015 (HealthDay News) -- Drug-resistant ...

  6. 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 ...

  7. Pendred Syndrome

    MedlinePLUS

    ... to gain communication skills, such as learning sign language or cued speech or learning to use a hearing aid . Most people with Pendred syndrome will have hearing loss significant enough to be considered ... speech, and language. Use the following keywords to help you find ...

  8. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    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

  9. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    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…

  10. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    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…

  11. Dumping Syndrome.

    PubMed

    Hasler, William L.

    2002-04-01

    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

  12. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    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.

  13. Central Pain Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  14. Carpal tunnel syndrome

    MedlinePLUS

    ... pain, numbness, tingling, or weakness. This is called carpal tunnel syndrome. ... Some people who develop carpal tunnel syndrome were born with a small carpal tunnel. Carpal tunnel syndrome can also be caused by making the same hand and ...

  15. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Career Awards Enhancing Diversity Find People About NINDS Carpal Tunnel Syndrome Fact Sheet See a list of all NINDS ... a key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median nerve, ...

  16. 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 ...

  17. Toxic Shock Syndrome

    MedlinePLUS

    ... Toxic Shock Syndrome KidsHealth > Teens > Sexual Health > For Girls > Toxic Shock Syndrome Print A A A Text ... Is Toxic Shock Syndrome? If you're a girl who's had her period, you may have heard ...

  18. Complex Regional Pain Syndrome

    MedlinePLUS

    ... NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, Causalgia Condensed from Complex Regional ... Tel: 813-907-2312 Fax: 813-830-7446 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) P.O. Box ...

  19. 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. ...

  20. 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 ...

  1. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  2. Down Syndrome (For Parents)

    MedlinePLUS

    ... Kids Deal With Bullies Pregnant? What to Expect Down Syndrome KidsHealth > Parents > Diseases & Conditions > Genetic, Chromosomal & Metabolic Conditions > ... Screening and Diagnosis Resources That Can Help About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  3. National Down Syndrome Society

    MedlinePLUS

    donate Entire Site Down Syndrome Resources Ways to Give My Great Story Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 666 Broadway, ...

  4. What Causes Down Syndrome?

    MedlinePLUS

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

  5. Ectopic Cushing syndrome

    MedlinePLUS

    ... in which a tumor outside the pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... syndrome include: Cushing disease Cushing syndrome caused by adrenal tumor Exogenous Cushing syndrome

  6. Sexuality and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  7. Sturge-Weber Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Sturge-Weber Syndrome Information Page Synonym(s): Encephalotrigeminal Angiomatosis Table of ... being done? Clinical Trials Organizations What is Sturge-Weber Syndrome? Sturge-Weber syndrome is a neurological disorder ...

  8. Tethered Spinal Cord Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  9. Restless Legs Syndrome

    MedlinePLUS

    ... Legs Syndrome Overview What is restless legs syndrome (RLS)? Restless legs syndrome (also called RLS) is a condition in which your legs feel ... age and becomes a problem for older adults. RLS can make sleeping and traveling difficult and uncomfortable. ...

  10. Learning about Down Syndrome

    MedlinePLUS

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  11. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

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

  12. [Nager syndrome].

    PubMed

    Opitz, C; Shetty, D K; Witkowski, R

    1998-05-01

    In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated. PMID:9658800

  13. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    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

  14. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    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

  15. Gitelman syndrome.

    PubMed

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

    2013-01-01

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

  16. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    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

  17. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  18. Types of Myelodysplastic Syndromes

    MedlinePLUS

    ... Article Close Push escape to close saved articles window. My Saved Articles » My ACS » Myelodysplastic Syndromes + - Text Size Download Printable Version [PDF] » What Is Myelodysplastic Syndrome? TOPICS ...

  19. [Hyperviscosity syndrome].

    PubMed

    Dumas, G; Merceron, S; Zafrani, L; Canet, E; Lemiale, V; Kouatchet, A; Azoulay, E

    2015-09-01

    Hyperviscosity syndrome is a life-threatening complication. Clinical manifestations include neurological impairment, visual disturbance and bleeding. Measurement of plasma or serum viscosity by a viscometer assesses the diagnosis. Funduscopic examination is a key exam because abnormalities are well-correlated with abnormal plasma viscosity. Etiologies are various but symptomatic hyperviscosity is more common in Waldenström's macroglobulinemia and multiple myeloma. Prompt treatment is needed: treatment of the underlying disease should be considered, but generally not sufficient. Symptomatic measures aim to not exacerbate blood viscosity while urgent plasmapheresis effectively reduces the paraprotein concentration and relieves symptoms. PMID:25778852

  20. Postmenopausal syndrome.

    PubMed

    Dalal, Pronob K; Agarwal, Manu

    2015-07-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  1. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  2. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  3. Turner Syndrome

    PubMed Central

    Kesler, SR

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

  4. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  5. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  6. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50?mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  7. Nodding Syndrome

    PubMed Central

    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

    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

  8. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2and GRIP1genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  9. Genetics Home Reference: Horner syndrome

    MedlinePLUS

    ... 250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. What genes are related to Horner syndrome? Although congenital Horner syndrome can ...

  10. [Periodic fever syndrome/autoinflammatory syndrome].

    PubMed

    Kötter, I; Schedel, J; Kümmerle-Deschner, J B

    2009-03-01

    Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes. PMID:19255765

  11. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  12. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Oscar, Arias Carrión; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology. PMID:26166239

  13. Eagle's Syndrome.

    PubMed

    Elimairi, Imad; Baur, Dale A; Altay, Mehmet Ali; Quereshy, Faisal A; Minisandram, Amritha

    2015-12-01

    Eagle's Syndrome (ES) refers to a symptomatic anomaly due to elongation of the styloid process or mineralization of the styloid complex. If not diagnosed timely and treated properly, elongation of the styloid process or the hyper-mineralization of the stylohyoid ligament may eventually lead to complete ossification of the stylohyoid complex. Non-specific head and neck symptoms of the ES may pose diagnostic challenges to the clinician. Therefore it is crucial to include ES among differential diagnosis when evaluating patients with similar head and neck symptoms. Once the diagnosis is confirmed, treatment plan should be tailored in accordance with the individual requirements of the case and performed without delay. Both pharmacological and surgical methods have been described for the treatment of the patients with ES. However for those who suffer from persistent symptoms, surgical removal of the elongated styloid process is the treatment of choice and can be done with an intraoral or an extraoral approach. The aim of this work is to present unusual clinical symptoms and radiologic findings of ES due to complete ossification of the stylohyoid complex. The importance of a correct diagnosis and appropriate treatment are highlighted. PMID:25537830

  14. Living with Marfan Syndrome

    MedlinePLUS

    ... avoid strenuous activities, such as weightlifting, skiing, and football. You also may need to avoid sports that ... of your child's Marfan syndrome. Pregnancy Many pregnant women who have Marfan syndrome have safe and normal ...

  15. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges Gilles de la Tourette, who first ... hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) . Learning disabilities and sleeping problems are also common in ...

  16. Carpal Tunnel Syndrome

    MedlinePLUS

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  17. 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 ...

  18. Anisocoria and Horner's Syndrome

    MedlinePLUS

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  19. Schwartz–Jampel syndrome

    PubMed Central

    Chandra, Sadanandavalli Retnaswami; Issac, Thomas Gregor; Gayathri, N.; Shivaram, Sumanth

    2015-01-01

    Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters. PMID:26167227

  20. Learning about Klinefelter Syndrome

    MedlinePLUS

    ... may have enough normally functioning cells in the testes to allow them to father children. Klinefelter syndrome ... syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial ...

  1. Restless legs syndrome

    MedlinePLUS

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

  2. What Is Marfan Syndrome?

    MedlinePLUS

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

  3. What Causes Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Cushing’s syndrome? Skip sharing on social media links Share this: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing’s Syndrome Normally, the pituitary gland in the brain controls ...

  4. 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 ...

  5. 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- ...

  6. Neonatal abstinence syndrome

    MedlinePLUS

    ... baby besides NAS. These may include: Birth defects Low birth weight Premature birth Small head circumference Sudden infant death syndrome (SIDS) Problems with development and behavior Neonatal abstinence syndrome can last from ...

  7. Guillain-Barré Syndrome

    MedlinePLUS

    ... knows what causes GBS, scientists do have some theories about the syndrome and why it surfaces in ... ON THIS TOPIC Why Should I Care About Germs? Strep Throat Chronic Fatigue Syndrome What's It Like ...

  8. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

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

  9. 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 ...

  10. Restless Legs Syndrome

    MedlinePLUS

    ... What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong urge ... urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, ...

  11. Restless Legs Syndrome

    MedlinePLUS

    ... What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations ... may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, ...

  12. 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...

  13. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  14. [Tic syndrome].

    PubMed

    Czapli?ski, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to streptococcal infection in the pathogenesis of tics. The differential diagnosis of tics is reviewed in detail. Above all tics represent a social disability. The ability to tolerate tics varies greatly from one individual to another, and the need for treatment is better defined by the patient than by the physician. Mild cases do not need be treated. Ideally, management should be multidisciplinary and can range from educative to supportive means or to intricate pharmacological interventions. The major form of treatment of the motor or vocal symptoms continues to be based on high-potency "typical" neuroleptics (tiaprid, pimozide, haloperidol), which induce a wide range of potentially serious side effects. In everyday practice we prefer to start with an "atypical" neuroleptic drug--for example, olanzapin (5-10 mg/day), risperidone or clozapine. Other drugs, such as clonidin or pergolid are widely used but their efficiency is still questionable. SSRIs (sertaline, citalopram, fluoxetin, fluvoxamine) or other antidepressants (clomipramine) have been used in treatment of psychiatric comorbid conditions, too. Botulinum toxin injections have proved useful in tics, targeting at the symptoms of blepharospasm, in neck and facial muscles. PMID:12185806

  15. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  16. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    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

  17. Hamartomatous polyposis syndromes

    PubMed Central

    2013-01-01

    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

  18. SAPHO syndrome associated spondylitis

    PubMed Central

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

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy. PMID:18642032

  19. Genetics Home Reference: Roberts syndrome

    MedlinePLUS

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

  20. Genetics Home Reference: Pfeiffer syndrome

    MedlinePLUS

    ... syndrome On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed February 2008 What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull ...

  1. 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 ...

  2. Genetics Home Reference: Cantú syndrome

    MedlinePLUS

    ... a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several ... do people use for Cantú syndrome? Cantu syndrome hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome hypertrichotic osteochondrodysplasia For more information ...

  3. First Trimester Down Syndrome Screen

    MedlinePLUS

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  4. Alzheimer's Disease and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  5. Genetics Home Reference: Jacobsen syndrome

    MedlinePLUS

    ... 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder Jacobsen thrombocytopenia For more information about ...

  6. Klippel-Trenaunay Syndrome (KTS)

    MedlinePLUS

    ... as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental ... features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes- ...

  7. Genetics Home Reference: Apert syndrome

    MedlinePLUS

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

  8. Genetics Home Reference: Crouzon syndrome

    MedlinePLUS

    ... People with Crouzon syndrome are usually of normal intelligence. How common is Crouzon syndrome? Crouzon syndrome is ... Medicine , National Institutes of Health Department of Health & Human Services , USA.gov Freedom of Information Act Copyright ...

  9. 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 ...

  10. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed. PMID:23378122

  11. Waterhouse-Friderichsen syndrome

    MedlinePLUS

    ... severe infection with meningococcus bacteria or other severe infection from bacteria, such as: Group B streptococcus Pseudomonas aeruginosa S. pneumoniae Staphylococcus aureus Rarely, Waterhouse-Friderichsen syndrome ...

  12. Palmaris brevis spasm syndrome.

    PubMed Central

    Serratrice, G; Azulay, J P; Serratrice, J; Pouget, J

    1995-01-01

    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle is not under voluntary control. The mechanism of the syndrome could be an ephaptic transmission possibly secondary to the transient and repeated stretching of the ulnar nerve superficial branch. In one patient a root compression was the probable origin. Images PMID:7629536

  13. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  14. Cushing's Syndrome in Children

    MedlinePLUS

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  15. Acute Coronary Syndrome

    MedlinePLUS

    ... Take note of these common signs of an acute coronary syndrome: Chest pain or discomfort, which may involve pressure, tightness ... 9-1-1. They’re not being alarmist.” Chest pain caused by acute coronary syndromes can come on suddenly, as is the case ...

  16. Fetal alcohol syndrome

    MedlinePLUS

    Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks ... A baby with fetal alcohol syndrome may have the following symptoms: Poor growth while the baby is in the womb and after birth Decreased muscle ...

  17. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

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

  18. Unmasking Diogenes Syndrome

    PubMed Central

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual “mask” of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  19. Irritable bowel syndrome - aftercare

    MedlinePLUS

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2015 . Philadelphia, PA: Elsevier Mosby; 2015:pages 669-70. What ...

  20. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

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

  1. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    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.…

  2. Peripheral nerve hyperexcitability syndromes.

    PubMed

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

    2015-01-01

    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

  3. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

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

    2007-01-01

    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…

  4. Managing Sjogren's Syndrome.

    PubMed

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin. PMID:26418108

  5. Atraumatic painless compartment syndrome.

    PubMed

    Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

    2013-12-01

    Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury. PMID:24041642

  6. Craniosynostosis in Alagille syndrome.

    PubMed

    Kamath, Binita M; Stolle, Catherine; Bason, Lynn; Colliton, Raymond P; Piccoli, David A; Spinner, Nancy B; Krantz, Ian D

    2002-10-01

    Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. PMID:12244552

  7. [Schizophrenia or Asperger syndrome?].

    PubMed

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

    2008-09-01

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

  8. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

    PubMed

    Ferianec, Vladimír; Bartova, Michaela

    2014-10-01

    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

  9. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    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…

  10. Aflibercept in Treating Patients With Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-01-07

    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

  11. [Painful shoulder syndrome].

    PubMed

    Jaji?, Zrinka

    2003-01-01

    Painful shoulder syndrome was described by S.E. Duplay 1872. showing the patient with pain and stiffness of the shoulder after trauma. Codman et. al. at the beginning of 20th century expanded the syndrome on several causes of shoulder pain. Syndrome is characterized by pain and limitation of joint movements. One of the most common nontraumatic causes of shoulder pain is periarticular disorder. The potential sources of local or referred pain may be muscle, tendon, bursa or neurovascular structures. Secondary referral pain to the shoulder may be due to coronary artery disease, hepatic or splenic disease. PMID:15098371

  12. Hypereosinophilic syndrome in children.

    PubMed

    van Grotel, M; de Hoog, M; de Krijger, R R; Beverloo, H B; van den Heuvel-Eibrink, M M

    2012-10-01

    Recently, according to the Hypereosinophilic Diseases Working Group of the International Eosinophil Society, six variants of hypereosinophilic syndrome have been proposed, i.e. (1) myeloproliferative, (2) lymphoproliferative, (3) idiopathic/undefined, (4) overlapping, (5) associated and (6) familial variant. Hypereosinophilic syndrome is a rare disorder in children and can occur at any age during childhood. Corticosteroids are the treatment of choice, whereas other treatment options are hydroxyurea, IFN?, imatinib, vincristine, mepolizumab. We present a fulminant fatal case of hypereosinophilic syndrome in a teenager with an initial presentation of an idiopathic thrombocytopenia (ITP) and present a narrative review of literature. PMID:22727506

  13. Carpal tunnel syndrome diagnosis.

    PubMed

    Sucher, Benjamin M; Schreiber, Adam L

    2014-05-01

    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

  14. Complex Regional Pain Syndrome

    MedlinePLUS

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

  15. Premenstrual Syndrome (PMS)

    MedlinePLUS

    ... your menstrual cycle Premenstrual syndrome (PMS) Problem periods Tracking your period Getting enough sleep Looking and feeling ... These include pain relievers that have ibuprofen (say: eye-byoo-PROH-fen) and naproxen (say: nuh-PROK- ...

  16. Dental Issues & Down Syndrome

    MedlinePLUS

    ... gums clean and help to minimize the inflammation. Cavities Some research says that people with Down syndrome ... of cavities. What Can I Do to Prevent Cavities and Gum Disease? Brush teeth twice daily with ...

  17. 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 ...

  18. 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 ...

  19. Turner Syndrome (For Teens)

    MedlinePLUS

    ... that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes ... it's the result of a problem with a girl's chromosomes . Girls with Turner syndrome are usually short ...

  20. Carpal Tunnel Syndrome

    MedlinePLUS

    ... objects, such as a doorknob or the steering wheel of a car. Weakness in your thumb. How ... that may help prevent carpal tunnel syndrome Lose weight if you're overweight. Get treatment for any ...

  1. Blind loop syndrome

    MedlinePLUS

    Blind loop syndrome occurs when digested food slows or stops moving through part of the intestines. This ... The name of this condition refers to the "blind loop" formed by part of the intestine that ...

  2. Alport Syndrome Diagnosis

    MedlinePLUS

    ... the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains ( ... linked Alport Syndrome) is suspected. The type IV collagen alpha-5 chain (COL4A5) is normally present in ...

  3. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

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

  4. Fetal Alcohol Syndrome

    MedlinePLUS

    ... drink other beverages instead, such as water, fruit juices or milk. Questions to Ask Your Doctor If your baby was born with fetal alcohol syndrome: What health problems does my baby have? Does my baby ...

  5. Ovarian hyperstimulation syndrome

    MedlinePLUS

    ... 3 to 6% of women who go through in vitro fertilization . Other risk factors for OHSS include: Being younger than age 35 Having a very high estrogen level during fertility treatments Having polycystic ovarian syndrome

  6. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your health care provider prescribed.

  7. Anesthesia & Down Syndrome

    MedlinePLUS

    ... neck) and airway size. How Do Behavior and Communication Issues Affect Anesthesia? The better we are at ... pre-anesthetic periods of evaluation and preparation. Receptive communication skills of people with Down syndrome are often ...

  8. ADHD & Down Syndrome

    MedlinePLUS

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down syndrome may have many barriers to effective communication. The receptive language skills of children with Down ...

  9. 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 SIDS "crib death" because many babies who die of SIDS are found in their ...

  10. Loeys-Dietz Syndrome

    MedlinePLUS

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

  11. Meconium aspiration syndrome

    MedlinePLUS

    ... syndrome occurs when a newborn baby breathes a mixture of meconium and amniotic fluid into the lungs ... attached to a bag that delivers an oxygen mixture to inflate the baby's lungs. The infant may ...

  12. 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...

  13. Klippel-Trenaunay syndrome

    MedlinePLUS

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

  14. Turner Syndrome: Other FAQs

    MedlinePLUS

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... Stanford School of Medicine Center for Interdisciplinary Brain Sciences Research. (n.d.). Turner syndrome . Retrieved June 26, ...

  15. Kearns-Sayre Syndrome

    MedlinePLUS

    ... About NINDS NINDS Kearns-Sayre Syndrome Information Page Table of Contents (click to jump to sections) What ... the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can ...

  16. Crouzon Syndrome (Craniofacial Dysostosis)

    MedlinePLUS

    ... Crouzon syndrome may create problems in family and social relationships, school placement, and so on. The craniofacial center may have a psychologist or social worker, or can refer you to one for ...

  17. 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 ...

  18. Cannabinoid hyperemesis syndrome.

    PubMed

    Heise, Lynn

    2015-01-01

    Legalization of marijuana use will increase the number of people who will become long-term users. A prior medical record review study in Australia, in 2004, identified 19 chronic marijuana users who entered the emergency department with recurrent vomiting associated with abdominal pain. Routine treatment of the nausea and vomiting, associated with the chronic marijuana abuse, with antiemetics is ineffective in patients with cannabinoid hyperemesis syndrome. Narcotics do not relieve the abdominal pain but may cause worsening rebound pain. The best treatment of cannabinoid hyperemesis syndrome was found to be abstinence from the recreational use of marijuana. It is important for advanced practice nurses to place cannabinoid hyperemesis syndrome in their differentials of patients presenting to the emergency department with recurrent nausea, vomiting, and abdominal pain. They need to be knowledgeable about cannabinoid hyperemesis syndrome to provide the proper management of care for this specific medical condition. PMID:25929220

  19. Congenital nephrotic syndrome

    MedlinePLUS

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  20. 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 ...

  1. Crigler-Najjar syndrome

    MedlinePLUS

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

  2. Cri du chat syndrome

    MedlinePLUS

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

  3. Beckwith-Wiedemann syndrome

    MedlinePLUS

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

  4. Metabolic Syndrome and Cancer

    PubMed Central

    Pothiwala, Pooja; Jain, Sushil K.

    2009-01-01

    Abstract Since its first description by Reavan in 1988, accepted criteria for clinical identification of the components of metabolic syndrome have been promulgated by the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) and the World Health Organization (WHO) as well as the International Diabetes Federation (IDF), and the American Association of Clinical Endocrinologists (AACE). Insulin resistance is a common metabolic abnormality underlying type 2 diabetes mellitus and is also an independent risk factor for cardiovascular disease. Although ATP III identified cardiovascular disease (CVD) as the primary clinical outcome of the metabolic syndrome, we now have evidence that metabolic syndrome is associated with type 2 diabetes mellitus, polycystic ovarian disease, nonalcoholic fatty liver disease, and possibly some cancers. This review summarizes evidence in support of the relationship between metabolic syndrome and various cancers and possible underlying mechanisms and therapeutic interventions. PMID:19284314

  5. Prader-Willi syndrome

    MedlinePLUS

    ... to get food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome. ... Improve physical strength and agility Improve height Increase lean muscle mass and decrease body fat Improve weight ...

  6. Munchausen by Proxy Syndrome

    MedlinePLUS

    ... syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses ... by a primary caretaker. Also known as "medical child abuse," MBPS was named after Baron von Munchausen, an ...

  7. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

    Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. PMID:25736532

  8. Dandy-Walker Syndrome

    MedlinePLUS

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  9. Acute Radiation Syndrome

    MedlinePLUS

    ... Planning Information on Specific Types of Emergencies 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 ...

  10. Turner Syndrome (For Parents)

    MedlinePLUS

    ... bone development. Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in ... Differences Most girls with Turner syndrome have normal intelligence. However, some have learning problems, and early consultation ...

  11. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy. PMID:21361726

  12. SYNDROME IN QUESTION*

    PubMed Central

    Chiacchio, Nilton Di; Jasso-Olivares, Julio Cesar; Chiacchio, Nilton Gioia Di; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  13. Syndrome in Question.

    PubMed

    Di Chiacchio, Nilton; Jasso-Olivares, Julio Cesar; Di Chiacchio, Nilton Gioia; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  14. Hamartomatous polyposis syndromes: A review

    PubMed Central

    2014-01-01

    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

  15. 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 • ...

  16. Fragile X Syndrome (FXS): Associated Disorders

    MedlinePLUS

    ... associated tremor/ataxia syndrome Fragile X Syndrome (Full Mutation) Fragile X syndrome (FXS) is the most common ... Fragile X syndrome often results from a full mutation of the FMR1 gene. Learn more about FXS » ...

  17. 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 ...

  18. Genetics Home Reference: Otopalatodigital syndrome type 1

    MedlinePLUS

    ... includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing ... characteristic facial features. Read more about frontometaphyseal dysplasia ; Melnick-Needles syndrome ; and otopalatodigital syndrome type 2 . How ...

  19. Genetics Home Reference: Otopalatodigital syndrome type 2

    MedlinePLUS

    ... includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing ... expansion for breathing. Read more about frontometaphyseal dysplasia ; Melnick-Needles syndrome ; and otopalatodigital syndrome type 1 . How ...

  20. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    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…

  1. Cardiopulmonary Syndromes—Patient Version

    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.

  2. 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. ...

  3. Chronic Fatigue Syndrome (CFS): Diagnosis

    MedlinePLUS

    ... CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome ( ... severity. These factors have contributed to a low diagnosis rate. Of the one to four million Americans ...

  4. Genetics Home Reference: Usher syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Usher syndrome? autosomal ; autosomal recessive ; cell ; cones ; gene ; hair cells ; inherited ; loss of hair ; peripheral ; population ; recessive ; retina ; rods ; sensory cells ; syndrome ; tissue You ...

  5. Middle East Respiratory Syndrome (MERS)

    MedlinePLUS

    ... Search The CDC Cancel Submit Search The CDC Middle East Respiratory Syndrome (MERS) Note: Javascript is disabled or ... CDC.gov . Recommend on Facebook Tweet Share Compartir Middle East Respiratory Syndrome (MERS) is a viral respiratory illness ...

  6. How Is Metabolic Syndrome Treated?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Metabolic Syndrome Treated? Heart-healthy lifestyle changes are the first line of treatment for metabolic syndrome. Lifestyle changes include heart-healthy eating , losing and ...

  7. Hemolytic Uremic Syndrome in Children

    MedlinePLUS

    ... of hemolytic uremic syndrome in children is an Escherichia coli (E. coli) infection of the digestive system. The ... of hemolytic uremic syndrome in children is an Escherichia coli ( E. coli ) infection of the digestive system. Normally, ...

  8. Syndromic disorders with short stature.

    PubMed

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    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

  9. Genetics Home Reference: Fraser syndrome

    MedlinePLUS

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. ... Where can I find information about diagnosis or management of Fraser syndrome? These resources address the diagnosis ...

  10. Down Syndrome and Alzheimer's Disease

    MedlinePLUS

    ... accelerate research and move closer to a cure. Down Syndrome and Alzheimer's Disease Tweet As they age, those ... disease. About Symptoms Diagnosis Causes & risks Treatments About Down Syndrome and Alzheimer's Higher prevalence of Alzheimer's in people ...

  11. Genetics Home Reference: Costello syndrome

    MedlinePLUS

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

  12. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

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

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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 ...

  17. Wolff-Parkinson-White syndrome

    MedlinePLUS

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

  18. Genetics Home Reference: Alström syndrome

    MedlinePLUS

    ... and Families Resources for Health Professionals What glossary definitions help with understanding Alström syndrome? acanthosis nigricans ; autosomal ; ... recessive ; short stature ; stature ; syndrome You may find definitions for these and many other terms in the ...

  19. Lees' syndrome: a case series.

    PubMed

    Becker, Nilson; Munhoz, Renato P; Teive, Hélio A G

    2011-10-01

    We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome. PMID:22042176

  20. Genetics Home Reference: Werner syndrome

    MedlinePLUS

    ... diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types ... most common causes of death are cancer and atherosclerosis. How common is Werner syndrome? Werner syndrome is ...

  1. Osler-Weber-Rendu syndrome

    MedlinePLUS

    Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding. ... Osler-Weber-Rendu syndrome is a condition passed down through families. It results from a problem in one of ...

  2. Genetics Home Reference: Majeed syndrome

    MedlinePLUS

    ... play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin- ... division ; chronic ; congenital ; fever ; gene ; inflammation ; inherited ; joint ; lipid ; metabolism ; osteomyelitis ; oxygen ; protein ; psoriasis ; recessive ; Sweet syndrome ; ...

  3. Chronic Fatigue Syndrome (CFS): Symptoms

    MedlinePLUS

    ... message, please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page Primary ... Other Symptoms What's the Clinical Course of CFS? Chronic fatigue syndrome can be misdiagnosed or overlooked because its symptoms ...

  4. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  5. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  6. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-01-01

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life. PMID:26224572

  7. Genetics Home Reference: Ochoa syndrome

    MedlinePLUS

    ... help with understanding Ochoa syndrome? anus ; autosomal ; autosomal recessive ; cell ; constipation ; gene ; incontinence ; inflammation ; inherited ; inversion ; kidney ; palsy ; protein ; recessive ; ...

  8. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  9. Treatment Options for Myelodysplastic Syndromes

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  10. General Information about Myelodysplastic Syndromes

    MedlinePLUS

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  11. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

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

    2002-01-01

    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)

  12. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    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

    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…

  13. Severe acute respiratory syndrome (SARS)

    MedlinePLUS

    Severe acute respiratory syndrome (SARS) is a serious form of pneumonia . It is caused by a virus that was first identified ... chap 366. McIntosh K, Perlman S. Coronaviruses, including severe ... syndrome (SARS)and Middle East respiratory syndrome (MERS). In: ...

  14. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    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…

  15. Double Crush Syndrome.

    PubMed

    Kane, Patrick M; Daniels, Alan H; Akelman, Edward

    2015-09-01

    Double crush syndrome is a distinct compression at two or more locations along the course of a peripheral nerve that can coexist and synergistically increase symptom intensity. In addition, dissatisfaction after treatment at one site may be the result of persistent pathology at another site along a peripheral nerve. Double crush syndrome is a controversial diagnosis; some scientists and surgeons believe it is an illness construction that may do more harm than good because it emphasizes an objective pathophysiologic explanation for unexplained symptoms, disability, and dissatisfaction that may be more psychosocially mediated. However, peripheral neuropathy may coexist with compressive neuropathy and contribute to suboptimal outcomes following nerve decompression. To better manage patients' expectations, treating practitioners should be aware of the possibility of concomitant cervical radiculopathy and carpal tunnel syndrome, as well as the presence of underlying systemic neuropathy. PMID:26306807

  16. Hemolytic uremic syndrome

    PubMed Central

    Canpolat, Nur

    2015-01-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood. PMID:26265890

  17. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.???Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  18. The temporal crescent syndrome.

    PubMed

    Ali, Khalid

    2015-02-01

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

  19. Postural Orthostatic Tachycardia Syndrome

    PubMed Central

    2014-01-01

    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

  20. Amygdaloid nucleus syndrome and dehumanization syndrome.

    PubMed

    Miller de Paiva, L

    1979-01-01

    Through statistical tests 3 groups of impulsive-aggressive patients were studied: group 1, 100 individuals with temporal dysrhythmia; group 2, 18 individuals with temporal dysrhythmia submitted either to group analytical therapy or to psychoanalysis; group 3, 25 impulsive-aggressive individuals. Moreover the author differentiates between the amygdaloid nucleus and dehumanization syndromes, through psychoanalytical or psychiatric studies, and stresses the importance of the molding periods in relation to social factors (frustration-aggression-injustice). Amygdalotomy of the hippocampus was suggested in special cases. PMID:482533

  1. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafra?ski, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  2. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

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

  3. [Sturge-Weber syndrome].

    PubMed

    Sugano, Hidenori; Nakanishi, Hajime; Nakajima, Madoka; Higo, Takuma; Iimura, Yasushi; Shimoji, Kazuaki; Arai, Hajime

    2010-07-01

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. PMID:20628187

  4. Ramsay Hunt syndrome.

    PubMed

    Sweeney, C J; Gilden, D H

    2001-08-01

    The strict definition of the Ramsay Hunt syndrome is peripheral facial nerve palsy accompanied by an erythematous vesicular rash on the ear (zoster oticus) or in the mouth. J Ramsay Hunt, who described various clinical presentations of facial paralysis and rash, also recognised other frequent symptoms and signs such as tinnitus, hearing loss, nausea, vomiting, vertigo, and nystagmus. He explained these eighth nerve features by the close proximity of the geniculate ganglion to the vestibulocochlear nerve within the bony facial canal. Hunt's analysis of clinical variations of the syndrome now bearing his name led to his recognition of the general somatic sensory function of the facial nerve and his defining of the geniculate zone of the ear. It is now known that varicella zoster virus (VZV) causes Ramsay Hunt syndrome. Compared with Bell's palsy (facial paralysis without rash), patients with Ramsay Hunt syndrome often have more severe paralysis at onset and are less likely to recover completely. Studies suggest that treatment with prednisone and acyclovir may improve outcome, although a prospective randomised treatment trial remains to be undertaken. In the only prospective study of patients with Ramsay Hunt syndrome, 14% developed vesicles after the onset of facial weakness. Thus, Ramsay Hunt syndrome may initially be indistinguishable from Bell's palsy. Further, Bell's palsy is significantly associated with herpes simplex virus (HSV) infection. In the light of the known safety and effectiveness of antiviral drugs against VZV or HSV, consideration should be given to early treatment of all patients with Ramsay Hunt syndrome or Bell's palsy with a 7-10 day course of famciclovir (500 mg, three times daily) or acyclovir (800 mg, five times daily), as well as oral prednisone (60 mg daily for 3-5 days). Finally, some patients develop peripheral facial paralysis without ear or mouth rash, associated with either a fourfold rise in antibody to VZV or the presence of VZV DNA in auricular skin, blood mononuclear cells, middle ear fluid, or saliva. This indicates that a proportion of patients with "Bell's palsy" have Ramsay Hunt syndrome zoster sine herpete. Treatment of these patients with acyclovir and prednisone within 7 days of onset has been shown to improve the outcome of recovery from facial palsy. PMID:11459884

  5. The Dubois syndrome.

    PubMed

    Caspari, Rachel; Wolpoff, Milford H

    2012-01-01

    The modem scientific method relies on falsification of large, overarching explanatory hypotheses, but refutation at any level is not easily accepted, nor should it necessarily be. Here we discuss the "Dubois syndrome," based on the history of Eugène Dubois, famous for the discovery and interpretation of Pithecanthropus erectus. Widely viewed as unbalanced for his changing understanding of these important fossils, we discuss how his apparent capriciousness was actually a rational conclusion based on his adherence to a broad evolutionary theory. Examples of the Dubois syndrome are common, perhaps especially so in paleoanthropology because the database, even many years later, is small. PMID:23272593

  6. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease.

  7. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

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

  8. Syndrome in Question*

    PubMed Central

    Tonolli, Vanessa Mello; Stolf, Hamilton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patricia Fernandes

    2014-01-01

    Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526

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

    ERIC Educational Resources Information Center

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

    2000-01-01

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

  10. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

    PubMed

    Cohen, M Michael

    2003-02-15

    Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. PMID:12561058

  11. Beckwith–Wiedemann syndrome

    PubMed Central

    Weksberg, Rosanna; Shuman, Cheryl; Beckwith, J Bruce

    2010-01-01

    Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction. PMID:19550435

  12. Doege-Potter Syndrome.

    PubMed

    Ahluwalia, N; Attia, R; Green, A; Cane, P; Routledge, T

    2015-10-01

    Doege-Potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulin-like growth factor II (IGF-II) from a solitary fibrous tumour. Surgical resection is curative in the majority of cases. If, however, the diagnosis is not suspected and treatment is delayed, it can lead to hypoxic cerebral injury or death. The underlying tumour can be a benign or malignant pleural tumour but may be present in extrapleural sites. For a diagnosis of Doege-Potter syndrome, symptoms attributable to hypoglycaemia and low blood glucose levels should be present along with the secretion of prohormone IGF-II. We report a case of severe hypoglycaemia in a 76-year-old inpatient admitted for resection of a recurrent left-sided pleural tumour. Investigation revealed true hypoglycaemia and Doege-Potter syndrome was diagnosed. The tumour was completely resected and the patient made a full recovery with no further hypoglycaemic episodes. PMID:26414372

  13. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

    2011-01-01

    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  14. Sleep and epilepsy syndromes.

    PubMed

    Schmitt, Bernhard

    2015-06-01

    Sleep and epilepsy have a close relationship. About 20% of patients suffer seizures only during the night, approximately 40% only during the day and approximately 35% during the day and night. In certain epilepsy syndromes, the occurrence of seizures is strongly related to sleep or awakening. Infantile spasms appear predominately on awakening, and hypsarrhythmia is sometimes visible only in sleep. Children with Panayiotopoulos syndrome or benign epilepsy with centrotemporal spikes (BECTS) have seizures mostly when asleep, and in both syndromes interictal spike waves are markedly accentuated in slow wave sleep. Electrical status epilepticus during slow sleep/continuous spike wave discharges during sleep (ESES/CSWS), atypical benign partial epilepsy, and Landau-Kleffner syndrome are epileptic encephalopathies with substantial behavioral and cognitive deficits, various seizures, and continuous spike-wave activity during non-rapid eye movement (NREM) sleep. The hallmark of juvenile myoclonic epilepsy and grand mal seizures on awakening are seizure symptoms within 2 hours after awakening, often provoked by sleep deprivation. Nocturnal frontal lobe epilepsy is sometimes mistaken for parasomnia. Differentiation is possible when the clinical symptoms and the frequency of the paroxysmal events per night and month are carefully observed and nocturnal video electroencephalography (EEG) performed. Sleep EEG recordings may be helpful in patients with suspected epilepsy and nonconclusive awake EEG. Depending on the clinical question, sleep recordings should be performed during nap (natural sleep or drug induced), during the night, or after sleep deprivation. PMID:25965811

  15. Syndrome In Question*

    PubMed Central

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

    2014-01-01

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

  16. Tics and Tourette Syndrome

    MedlinePLUS

    ... the medicines used to treat Tourette syndrome may cause side effects. ... and around other kids? Is there a medicine that could help my child? Could my child also have attention-deficit hyperactivity disorder (ADHD)? Are there other therapies that could help ...

  17. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

    Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

  18. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

    Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

  19. The Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Umbreit, John; Ostrow, Lisa S.

    1980-01-01

    Fetal alcohol syndrome is a pattern of altered growth and morphogenesis found in about half the offspring of severely and chronically alcoholic women who continue drinking throughout their pregnancy. Of children studied, mild to moderate mental retardation was the most common disorder, occurring in 44 percent of the cases. (PHR)

  20. Neuroleptic Malignant Syndrome

    MedlinePLUS

    ... weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people ... Trials Organizations Column1 Column2 National Organization for Rare Disorders (NORD) ... Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798- ...

  1. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

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

  2. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  3. Sheldon-Hall syndrome

    PubMed Central

    Toydemir, Reha M; Bamshad, Michael J

    2009-01-01

    Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18–24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal. PMID:19309503

  4. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

    This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…

  5. IBMFS - Pearson Syndrome

    Cancer.gov

    Patients with Pearson Syndrome may have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Low red cell counts (anemia) can be a major problem, and low platelet counts (thrombocytopenia) can also occur. Symptoms are often present in infancy. Liver and kidney disease usually develop. Examination of the bone marrow under the microscope reveals characteristic holes ("vacuoles") in many cells.

  6. Milk-alkali syndrome

    MedlinePLUS

    Milk-alkali syndrome is a condition in which there is a high level of calcium in the body (hypercalcemia). This causes a shift in the body's acid/base balance toward alkaline (metabolic alkalosis). As a result, there can be a loss of kidney ...

  7. Facts about Tourette Syndrome

    MedlinePLUS

    ... families and hear about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ... developmental condition. The two most common conditions are attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). It is ...

  8. [Frailty and geriatric syndrome].

    PubMed

    Kozaki, Koichi

    2013-06-01

    Frailty comes from decline of functions in multi-organs, not a single organ dysfunction (disease). This accounts for comorbidity in the elderly, both in the acute and chronic ill conditions. In the Kyorin University Hospital, which have a role of emergency hospitals in the western area of Tokyo, more than seventy percent of the patients admitted to the geriatric ward are emergent cases. They have multi-diseases; the most frequent one is pneumonia(from aspiration). Often, their ADL is poor and have cognitive disorders, which is why they stay in the ward long. Geriatric syndrome indicates signs and symptoms frequently observed in the elderly. Because geriatric syndromes stem from multi-system dysfunction, they cannot be treated well enough. However, if geriatric syndromes are left untreated, the ADL declines in a steady state. Usually, geriatric syndromes cannot be treated by medication, but well-planned care can prevent progression. From this sense, not a medicine but multidisciplinary approach, such as cooperation with nurse, dietitian, PT, OT, pharmacist, social worker, care programmer and others, is the key to preventing elderly people from failing to the disabled state. PMID:23855198

  9. Postural orthostatic tachycardia syndrome.

    PubMed

    Agarwal, A K; Garg, R; Ritch, A; Sarkar, P

    2007-07-01

    Postural orthostatic tachycardia syndrome (POTS) is an autonomic disturbance which has become better understood in recent years. It is now thought to encompass a group of disorders that have similar clinical features, such as orthostatic intolerance, but individual distinguishing parameters--for example, blood pressure and pulse rate. The clinical picture, diagnosis, and management of POTS are discussed. PMID:17621618

  10. Munchausen syndrome and necrophilia.

    PubMed

    Faguet, R A

    1980-01-01

    Munchausen syndrome and necrophilia are uncommon disorders which do not appear to be related. It is suggested, however, that both of them center on "return to the womb" fantasies and may represent variants of each other. Specifically, the Munchausen patient's symptom triad (factitious illness, peregrination, pseudologia fantastica) is seen to reflect a wish for death and reunion with the maternal object. PMID:7466892

  11. What Causes Rett Syndrome?

    MedlinePLUS

    ... the early-onset seizure variant of Rett syndrome. Human Molecular Genetics , Jul 15;14(14), 1935–1946. Retrieved June ... report and review of literature. European Journal of Human Genetics , 17, 1577–1581. ... Clinical-Molecular Correlates. In G. Fisch (Ed.), Genetics and neurobehavioral ...

  12. Benign fasciculation syndrome.

    PubMed

    Walter, Thomas Robert

    2015-03-01

    Questions from patients about pain conditions, analgesic pharmacotherapy, and responses from authors are presented to help educate patients and make them more effective self-advocates. In reply to a question about benign fasciculation syndrome, the presentation, causes, treatment, and chances of developing amyotrophic lateral sclerosis will be discussed. PMID:25700216

  13. Recurrent hemolytic uremic syndrome

    PubMed Central

    Lakshminarayana, G.; Rajesh, R.; Jojo, A.; Kurian, G.; Unni, V. N.

    2008-01-01

    Hemolytic uremic syndrome (HUS) is an uncommon cause of acute renal failure. Diarrhea-associated (D+) HUS, usually seen in children, is a common variety of HUS. HUS that is not associated with diarrhea (D?) is caused by a heterogeneous group of disorders. We report here a case of recurrent HUS (D?) in an adult female with hypocomplementemia. PMID:20142920

  14. Amniotic band syndrome.

    PubMed

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

    2013-10-01

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

  15. Venlafaxine withdrawal syndrome.

    PubMed

    Sablji?, Vladimir; Ruži?, Klementina; Rakun, Radmir

    2011-03-01

    Dual-action antidepressants serotonin-norepinephrine reuptake inhibitors (SRNIs) are widely used to treat depression. Owing to its efficiency and safety, venlafaxine holds a prominent place in this group of depressants. Abrupt venlafaxine discontinuation involves a high risk of withdrawal syndrome. Mechanism of its development is similar to that of selective serotonin reuptake inhibitors (SSRIs), but of higher intensity. Venlafaxine withdrawal symptoms may include several somatic symptoms as well as several psychiatric symptoms. In some cases, symptoms may look like a stroke. A treatment option is re-inclusion of venlafaxine or a SSRI antidepressant. The paper presents the case of a 70-year-old patient who discontinued of her own accord to take venlafaxine, which she had been taking regularly at a daily dose of 225 mg for more than a year. A few hours after taking the last dose, withdrawal syndrome occurred with severe symptoms resembling a stroke. The patient was examined by a neurologist and the CT and laboratory parameters showed no irregularities. Diagnosis was made after psychiatric observation. Venlafaxine, 150 mg per day, was prescribed, the symptoms disappeared relatively quickly, and the patient fully recovered. Withdrawal syndrome is a real risk for each venlafaxine treated patient. The possibility of its occurrence should be always kept in mind and patients should be timely informed about it. In this way, the risk of venlafaxine withdraw syndrome could be reduced, unnecessary stress to patients prevented and the costs of medical treatment lowered. PMID:21448114

  16. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

    Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…

  17. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

  18. Metabolic syndrome in childhood.

    PubMed

    Crespo, Pablo Sanjurjo; Prieto Perera, Jose Angel; Lodeiro, Fernando Andrade; Azuara, Luis Aldámiz-Echevarría

    2007-10-01

    The so-called epidemic of childhood obesity has increased the interest in the metabolic syndrome (MS) due to the potential projection into adulthood. Prevalence of the MS in adolescents has been estimated to be 6.7% in young adults and 4.2% in adolescents. Figures rise up to 28.7% in overweight and obese adolescents. The most widely accepted hypothesis links the syndrome to obesity. In the Bogalusa study, the best predictors were obesity and being in the upper quartile of basal insulin levels. Ethnic and genetic factors play a role in order to explain the syndrome in the non-obese population and the differences of interobesity. The relationship between MS and type 2 diabetes and cardiovascular disease is well established in adults. This association can be suggested in children as well, although the syndrome in childhood urgently needs to be clearly defined. In this age group, it is also of great interest to identify diagnosis criteria of the so-called pre-MS. Detection of the syndrome focuses mainly on obese and overweight young people. Other population groups such as newborns with low or high birth weight, infants with accelerated growth, or children of obese or with gestational diabetes mothers are at a higher risk of developing peripheral insulin resistance. The measurement of abdominal circumference can be a useful screening tool. Physical exercise and restriction of saturated and trans fatty acids are basic for treatment. If reducing weight is necessary, a reduction of carbohydrate intake, especially for refined sugars, must be emphasised. Dietary fibre improves insulin sensitivity. PMID:17903319

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

    E-print Network

    Butterworth, Brian

    Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus. Rather, the development process itself must be taken into account. Keywords: Williams syndrome, Down

  20. [Kabuki syndrome, a congenital syndrome with multiple anomalies].

    PubMed

    den Biggelaar, A M; Kuijpers-Jagtman, A M; Bergé, S J; Katsaros, C

    2006-12-01

    The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described. PMID:17193989

  1. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    PubMed Central

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  2. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

  3. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    PubMed Central

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute ?rst-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome. PMID:25548619

  4. Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

    PubMed

    Shah, D; Rasool, S

    2016-02-01

    By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities. PMID:26624567

  5. [Recovery of Cushing syndrome revealing McCune-Albright syndrome].

    PubMed

    Halioui-Louhaichi, S; Dridi, Y; Azzabi, O; Selmi, I; Fetni, I; Siala, N; Maherzi, A

    2016-01-01

    Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment. PMID:26552628

  6. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment. PMID:24552422

  7. Paraneoplastic syndromes in olfactory neuroblastoma

    PubMed Central

    Gabrych, Anna; Czapiewski, Piotr; Sworczak, Krzysztof

    2015-01-01

    Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of sinonasal tract, derived from olfactory epithelium. Unilateral nasal obstruction, epistaxis, sinusitis, and headaches are common symptoms. Olfactory neuroblastoma shows neuroendocrine differentiation and similarly to other neuroendocrine tumors can produce several types of peptic substances and hormones. Excess production of these substances can be responsible for different types of endocrinological paraneoplastic syndromes (PNS). Moreover, besides endocrinological, in ONB may also occur neurological PNS, caused by immune cross-reactivity between tumor and normal host tissues in the nervous system. Paraneoplastic syndromes in ONB include: syndrome of inappropriate ADH secretion (SIADH), ectopic ACTH syndrome (EAS), humoral hypercalcemia of malignancy (HHM), hypertension due to catecholamine secretion by tumor, opsoclonus-myoclonus-ataxia (OMA) and paraneoplastic cerebellar degeneration. Paraneoplastic syndromes in ONB tend to have atypical features, therefore diagnosis may be difficult. In this review, we described initial symptoms, patterns of presentation, treatment and outcome of paraneoplastic syndromes in ONB, reported in the literature. PMID:26199564

  8. Meningitis-Retention Syndrome

    PubMed Central

    Basoulis, Dimitrios; Mylona, Maria; Toskas, Pantelis; Tsilingiris, Dimitris; Fytili, Christina

    2015-01-01

    Meningitis-retention syndrome (MRS) is a clinical entity that has recently appeared in the literature. We present the case of a 22-year-old man with fever and headache who, in the course of his hospitalization with a diagnosis of aseptic meningitis, developed acute urinary retention. Fewer than 30 such cases have been described and in several of them, no clear associations with other disorders have been made. In some cases, direct association with viral infection has been proved, and in others, there are indications of an underlying demyelinating condition. To further complicate the issue, various conditions such as Elsberg syndrome and acute disseminated encephalomyelitis, which not only have some similarities but also have some distinct differences, have been placed under the umbrella definition of MRS. In our review, we attempt to address these conditions and better define MRS by establishing diagnostic criteria based on what has thus far been described in the literature.

  9. Postconcussion Syndrome: A Review.

    PubMed

    Barlow, Karen M

    2016-01-01

    Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. PMID:25330797

  10. Nijmegen breakage syndrome (NBS)

    PubMed Central

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. Zespó? Nijmegen (Nijmegen breakage syndrome; NBS) jest rzadkim schorzeniem z wrodzon? niestabilno?ci? chromosomow? dziedzicz?cym si? w sposób autosomalny recesywny, charakteryzuj?cym si? przede wszystkim wrodzonym ma?og?owiem, z?o?onymi niedoborami odporno?ci i predyspozycj? do rozwoju nowotworów. Choroba wyst?puje najcz??ciej w populacjach s?owia?skich, w których uwarunkowana jest mutacj? za?o?ycielsk? w genie NBN (c.657_661del5). Do najwa?niejszych objawów zespo?u zalicza si?: ma?og?owie obecne od urodzenia i post?puj?ce z wiekiem, charakterystyczne cechy dysmorfii twarzy, opó?nienie wzrastania, niepe?nosprawno?? intelektualn? w stopniu lekkim do umiarkowanego oraz hipogonadyzm hipogonadotropowy u dziewcz?t. Na obraz choroby sk?adaj? si? tak?e: niedobór odporno?ci komórkowej i humoralnej, który jest przyczyn? nawracaj?cych infekcji, znaczna predyspozycja do rozwoju nowotworów z?o?liwych (zw?aszcza uk?adu ch?onnego), a tak?e zwi?kszona wra?liwo?? na promieniowanie jonizuj?ce. Wyniki bada? laboratoryjnych wykazuj?: (1) spontaniczn? ?amliwo?? chromosomów w limfocytach T krwi obwodowej, z preferencj? do rearan?acji chromosomów 7 i 14, (2) nadwra?liwo?? na promieniowanie jonizuj?ce lub radiomimetyki, co mo?na wykaza? metodami in vitro, (3) radiooporno?? syntezy DNA, (4) hipomorficzne mutacje na obu allelach genu NBN, oraz (5) brak w komórkach

  11. Microdeletion and Microduplication Syndromes

    PubMed Central

    Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena, Juan C.; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas

    2012-01-01

    The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given. PMID:22396478

  12. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  13. [Sturge-Weber syndrome].

    PubMed

    Reith, W; Yilmaz, U; Zimmer, A

    2013-12-01

    Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369

  14. Is It Antiphospholipid Syndrome?

    PubMed Central

    Ditto, Maria Chiara; Antivalle, Marco; Badini, Matteo; Battellino, Michele; Cogliati, Chiara; Sarzi-Puttini, Piercarlo

    2010-01-01

    The diagnosis of bacterial endocarditis remains a challenge, as nearly half of cases develop in the absence of preexistent heart disease and known risk factors. Not infrequently, a blunted clinical course at onset can lead to erroneous diagnoses. We present the case of a 47-year-old previously healthy man in which a presumptive diagnosis of antiphospholipid syndrome was made based on the absence of echocardiographically detected heart involvement, a negative blood culture, normal C-reactive protein (CRP) levels, a positive lupus anticoagulant (LAC) test, and evidence of splenic infarcts. The patient eventually developed massive aortic endocarditic involvement, with blood cultures positive for Streptococcus bovis, and was referred for valvular replacement. This case not only reminds us of the diagnostic challenges of bacterial endocarditis, but also underlines the need for a critical application of antiphospholipid syndrome diagnostic criteria. PMID:21318137

  15. Genetics Home Reference: Osteoporosis-pseudoglioma syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Osteoporosis-pseudoglioma syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed January 2013 What is osteoporosis-pseudoglioma syndrome? Osteoporosis-pseudoglioma syndrome is a rare ...

  16. Genetics Home Reference: Acral peeling skin syndrome

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Acral peeling skin syndrome On this page: Description Genetic changes Inheritance ... definitions Reviewed April 2014 What is acral peeling skin syndrome? Acral peeling skin syndrome is a skin ...

  17. Genetics Home Reference: Smith-Magenis syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Magenis syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2013 What is Smith-Magenis syndrome? Smith-Magenis syndrome is a developmental ...

  18. Genetics Home Reference: Hyperferritinemia-cataract syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Hyperferritinemia-cataract syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed August 2012 What is hyperferritinemia-cataract syndrome? Hyperferritinemia-cataract syndrome is a disorder characterized ...

  19. Genetics Home Reference: Dubin-Johnson syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Dubin-Johnson syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed March 2009 What is Dubin-Johnson syndrome? Dubin-Johnson syndrome is a condition characterized ...

  20. Prader-Willi Syndrome: Other FAQs

    MedlinePLUS

    ... should be considered. 1 Inheritance of PWS and Angelman Syndrome PWS could affect the offspring of someone ... risk of being born with PWS or with Angelman syndrome . Angelman syndrome, like PWS, results from defects ...

  1. Genetics Home Reference: Pitt-Hopkins syndrome

    MedlinePLUS

    ... Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism). How common is Pitt-Hopkins syndrome? Pitt- ... cells ; short stature ; spectrum ; sperm ; stature ; strabismus ; syndrome ; testes ; transcription ; transcription factor You may find definitions for ...

  2. Current status of familial gastrointestinal polyposis syndromes

    PubMed Central

    Jung, Ioan; Gurzu, Simona; Turdean, Gligore Sabin

    2015-01-01

    Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type?I?and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum. PMID:26600934

  3. Genetics Home Reference: Dopamine transporter deficiency syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Dopamine transporter deficiency syndrome On this page: Description Genetic ... names Glossary definitions Reviewed October 2015 What is dopamine transporter deficiency syndrome? Dopamine transporter deficiency syndrome is ...

  4. Current status of familial gastrointestinal polyposis syndromes.

    PubMed

    Jung, Ioan; Gurzu, Simona; Turdean, Gligore Sabin

    2015-11-15

    Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type?I?and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum. PMID:26600934

  5. Genetics Home Reference: Peters plus syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Peters plus syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed September 2013 What is Peters plus syndrome? Peters plus syndrome is an inherited ...

  6. Ear, Nose & Throat Issues & Down Syndrome

    MedlinePLUS

    ... Associated Conditions » Ear, Nose & Throat Issues & Down Syndrome Ear, Nose & Throat Issues & Down Syndrome Ear, nose, and ... Are Common in Children With Down Syndrome? External Ear Canal Stenosis Stenotic ear canals (narrow ear canals) ...

  7. Genetics Home Reference: Parkes Weber syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Parkes Weber syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed August 2011 What is Parkes Weber syndrome? Parkes Weber syndrome is a disorder of ...

  8. Genetics Home Reference: Melnick-Needles syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Melnick-Needles syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed November 2007 What is Melnick-Needles syndrome? Melnick-Needles syndrome is a disorder ...

  9. Genetics Home Reference: Li-Fraumeni syndrome

    MedlinePLUS

    ... Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome Sarcoma family syndrome of Li and Fraumeni SBLA syndrome For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming ...

  10. Phantom breast syndrome.

    PubMed

    Ramesh; Shukla, Nootan K; Bhatnagar, Sushma

    2009-07-01

    Phantom breast syndrome is a type of condition in which patients have a sensation of residual breast tissue and can include both non-painful sensations as well as phantom breast pain. The incidence varies in different studies, ranging from approximately 30% to as high as 80% of patients after mastectomy. It seriously affects quality of life through the combined impact of physical disability and emotional distress. The breast cancer incidence rate in India as well as Western countries has risen in recent years while survival rates have improved; this has effectively increased the number of women for whom post-treatment quality of life is important. In this context, chronic pain following treatment for breast cancer surgery is a significantly under-recognized and under-treated problem. Various types of chronic neuropathic pain may arise following breast cancer surgery due to surgical trauma. The cause of these syndromes is damage to various nerves during surgery. There are a number of assumed factors causing or perpetuating persistent neuropathic pain after breast cancer surgery. Most well-established risk factors for developing phantom breast pain and other related neuropathic pain syndromes are severe acute postoperative pain and greater postoperative use of analgesics. Based upon current evidence, the goals of prophylactic strategies could first target optimal peri-operative pain control and minimizing damage to nerves during surgery. There is some evidence that chronic pain and sensory abnormalities do decrease over time. The main group of oral medications studied includes anti-depressants, anticonvulsants, opioids, N-methyl-D-asparate receptor antagonists, mexilitine, topical lidocaine, cannabinoids, topical capsaicin and glysine antagonists. Neuromodulation techniques such as motor cortex stimulation, spinal cord stimulation, and intrathecal drug therapies have been used to treat various neuropathic pain syndromes. PMID:20668586

  11. Blueberry muffin syndrome

    PubMed Central

    Benmiloud, Sarra; Elhaddou, Ghizlane; Belghiti, Zoubida Alaoui; Hida, Moustapha; Bouharrou, Abdelhak

    2012-01-01

    Le Blueberry Muffin Baby est un syndrome cutané rare observé en période néonatale. Il est caractérisé par des papulo-nodules disséminés inflammatoires traduisant des réactions d'hématopoïèse dermique. Plusieurs causes doivent être recherchées, notamment les infections congénitales, une hémolyse sévère et les pathologies tumorales. Nous rapportons l'observation d'un nouveau-né chez qui l'aspect d'un Blueberry muffin baby a conduit au diagnostic d'une leucémie aiguë myéloïde. PMID:23308328

  12. Burning Mouth Syndrome

    PubMed Central

    Mock, David; Chugh, Deepika

    2010-01-01

    Most clinicians dread seeing the patient presenting with a primary complaint of a burning pain on one or more oral mucosal surfaces. Unlike most other clinical conditions presenting in a dental office, burning mouth syndrome is poorly understood with few evidence based remedies. More recently, advances have been made towards clarifying the possible etiology of the disorder and testing the possible therapeutic modalities available. This article attempts to summarize the “state of the art” today. PMID:20690412

  13. Macrophage Activation Syndrome.

    PubMed

    Ravelli, Angelo; Davì, Sergio; Minoia, Francesca; Martini, Alberto; Cron, Randy Q

    2015-10-01

    Macrophage activation syndrome (MAS) is a potentially life-threatening complication of rheumatic disorders that occurs most commonly in systemic juvenile idiopathic arthritis. In recent years, there have been several advances in the understanding of the pathophysiology of MAS. Furthermore, new classification criteria have been developed. Although the place of cytokine blockers in the management of MAS is still unclear, interleukin-1 inhibitors represent a promising adjunctive therapy, particularly in refractory cases. PMID:26461152

  14. Tarsal tunnel syndrome.

    PubMed

    Gould, John S

    2011-06-01

    Tarsal tunnel syndrome, unlike its similar sounding counterpart in the hand, is a significantly misunderstood clinical entity. Confusion concerning the anatomy involved, the presenting symptomatology, the appropriateness and significance of various diagnostic tests, conservative and surgical management, and, finally, the variability of reported results of surgical intervention attests to the lack of consensus surrounding this condition. The terminology involved in various diagnoses for chronic heel pain is also a hodgepodge of poorly understood entities. PMID:21600447

  15. Psychosomatic syndromes and anorexia nervosa

    PubMed Central

    2013-01-01

    Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

  16. Acute aortic syndromes: current status.

    PubMed

    Ridge, Carole A; Litmanovich, Diana E

    2015-05-01

    The term acute aortic syndrome comprises aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer. The most recent developments in acute aortic syndromes include (1) a change in the mindset that each entity is pathologically distinct, with a shift toward considering the acute aortic syndromes as points along a spectrum of aortic disease, (2) the optimization of aortic imaging quality and radiation dose, and (3) surgical or endovascular management. This review article focuses on how these developments pertain to thoracic radiologists. PMID:25851925

  17. [Polycystic ovary syndrome].

    PubMed

    Vrbíková, Jana

    2015-10-01

    For diagnosing of polycystic ovary syndrome (PCOS) it is currently recommended to follow the ESHRE criteria. For diagnosis according to them two of the following three symptoms are sufficient: 1. morphology of polycystic ovaria, 2. clinical manifestations of hyperandrogenism or laboratory proof of hyperandrogenemia, and 3. oligo-anovulation. PCOS is a complex disorder in whose pathogenesis genetic and environmental effects interact. It is not a gynecological disorder alone, the syndrome is accompanied by insulin resistance which leads to increased incidence of type 2 diabetes mellitus and impaired glucose tolerance (4 times and twice, independently of BMI). Also gestational DM occurs more frequently. Dyslipidemia, arterial hypertension, elevated CRP and homocysteine levels, endothelial dysfunction and greater intima-media thickness are also more frequent. It is not quite clear, however, whether women with PCOS suffer cardiovascular events more frequently as well. More often than is accidental PCOS is associated with depression, anxiety and eating disorders, further with nonalcoholic steatohepatitis and with the sleep apnoea syndrome - especially in obese women. Therapeutic measures include non-pharmacological methods - lifestyle adjustments focused on weight reduction in obese individuals, cosmetic measures for dermatologic manifestation of hyperandrogenism, in particular laser and pharmacotherapy (combined hormonal contraceptives and antiandrogens). Menstrual irregularities can be treated with contraceptives or cyclical administration of gestagens, also metformin can be used.Key words: antiandrogens - diabetes mellitus - hormonal contraception - insulin resistance - ischemic heart disease - metformin. PMID:26486483

  18. Alien hand syndrome.

    PubMed

    Biran, I; Chatterjee, A

    2004-02-01

    In Stanley Kubrick's movie Dr Strangelove, the main character is described as "erratic" and displays a bizarre movement disorder. His right hand seems to be driven by a will of its own, at times clutching his own throat and at other times raising into a Nazi salute. Dr Strangelove must try to restrain this wayward limb with his left hand. Bizarre as this fictional character is, a similar movement disorder can occur in neurologic disease. The complex phenomenon associated with this disorder falls under the rubric of alien hand syndrome. This syndrome is characterized by a limb that seems to perform meaningful acts without being guided by the intention of the patient. Patients find themselves unable to stop the alien limb from reaching and grabbing objects, and they may be unable to release these grasped objects without using their other hand to pry open their fingers. These patients frequently express astonishment and frustration at the errant limb. They experience it as being controlled by an external agent and often refer to it in the third person. This article outlines the origins of the terminology used in describing this syndrome, early observations, and studies regarding its functional neuroanatomy. PMID:14967782

  19. Vitreomacular traction syndrome.

    PubMed

    Bottós, Juliana; Elizalde, Javier; Arevalo, J Fernando; Rodrigues, Eduardo B; Maia, Maurício

    2012-04-01

    The advent of new technologies such as high definition optical coherence tomography (OCT) has not only provided unprecedented imaging capabilities, but also raised the need to define concepts not yet settled and often confusing such as the vitreomacular traction (VMT) syndrome. While technological advances drive us into the future by clarifying the pathophysiology of many diseases and enabling novel therapeutic options, it is at the same time necessary to review basic disease concepts in addition to definitions and classifications. VMT syndrome is implicated in the pathophysiology of a number of macular disorders, translating into a variety of anatomical and functional consequences underscoring the complexity of the condition. These macular changes are closely related to the VMT configuration and have led to proposing classification of this syndrome based on OCT findings. The size and severity of the remaining vitreomacular attachment may define the specific maculopathy. Focal VMT usually leads to macular hole formation, tractional cystoid macular edema and foveal retinal detachment, while broad VMT is associated with epiretinal membranes, diffuse retinal thickening and impaired foveal depression recovery. Despite similar postoperative visual acuity (VA) in focal and broad VMT subgroups, visual improvement is greater with focal VMT because preoperative VA is frequently lower. Surgical procedures are effective to relieve VMT and improve VA in most eyes; outcomes vary with VMT morphology and the duration of symptoms. PMID:23275824

  20. Metabolic cutis laxa syndromes.

    PubMed

    Mohamed, Miski; Kouwenberg, Dorus; Gardeitchik, Thatjana; Kornak, Uwe; Wevers, Ron A; Morava, Eva

    2011-08-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix proteins. Surprisingly a number of metabolic disorders have been also found to be associated with inherited cutis laxa. Menkes disease was the first metabolic disease reported with old-looking, wrinkled skin. Cutis laxa has recently been found in patients with abnormal glycosylation. The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG). Since then several inborn errors of metabolism with cutis laxa have been described with variable severity. These include P5CS, ATP6V0A2-CDG and PYCR1 defects. In spite of the evolving number of cutis laxa-related diseases a large part of the cases remain genetically unsolved. In metabolic cutis laxa syndromes the clinical and laboratory features might partially overlap, however there are some distinct, discriminative features. In this review on metabolic diseases causing cutis laxa we offer a practical approach for the differential diagnosis of metabolic cutis laxa syndromes. PMID:21431621

  1. Oral allergy syndrome.

    PubMed

    Kondo, Yasuto; Urisu, Atsuo

    2009-12-01

    Oral allergy syndrome (OAS) is defined as the symptoms of IgE-mediated immediate allergy localized in the oral mucosa, and the characteristics depend on the lability of the antigen. Another term used for this syndrome is pollen-food allergy (PFS); the patient is sensitized with pollen via the airways and exhibits an allergic reaction to food antigen with a structural similarity to the pollen (class 2 food allergy). In addition to PFS, latex-fruit syndrome is also well-known as the disease exhibiting OAS. In treating the condition, it must be noted that most but not all symptoms of PFS are those of OAS. In many cases, antigens become edible by heating, but some are resistant to heating. Also, since the exacerbation of atopic dermatitis is occasionally observed after the intake of cooked antigens in asymptomatic individuals, careful inquiry of the history is important in designing the treatment. Immunotherapy against the cross-reacting pollen has also been attempted in PFS. PMID:19847095

  2. Broken Heart Syndrome

    PubMed Central

    Therkleson, Tessa; Stronach, Shona

    2015-01-01

    This case describes a combination external treatment for “Broken Heart Syndrome” that includes a lavender footbath, massage using moor extract, and oxalis ointment to the abdomen applied by an Anthroposophic nurse for a specific personality type. Lavender footbaths have been used since ancient times for relaxation and calming, while moor extract has been used medicinally in Europe since the middle ages for warmth and environmental protection. Rhythmical massage using moor extract and oxalis ointment poultice to the abdomen are part of the tradition of Anthroposophic nursing when managing stress induced by emotional and physical trauma. An elderly lady with specific characteristics diagnosed as Broken Heart Syndrome received one treatment a week for 4 weeks given by an Anthroposophic nurse at an integrative medical center. Between treatments, education was given to enable self-treatment in the home. The nursing treatments, each using lavender footbaths, moor extract massage, and oxalis ointment poultice to the abdomen, proved very effect, and no negative effects were reported. External applications need to be considered by nurses caring for specific personality types with Broken Heart Syndrome. PMID:25673580

  3. Acute compartment syndrome

    PubMed Central

    Via, Alessio Giai; Oliva, Francesco; Spoliti, Marco; Maffulli, Nicola

    2015-01-01

    Summary Background: acute compartment syndrome (ACS) is one of the few true emergencies in orthopedics and traumatology. It is a painful condition caused by the increase interstitial pressure (intracompart-mental pressure – ICP) within a closed osteofascial compartment which impair local circulation. It occurs most often in the legs, but it can affects also the arms, hands, feet, and buttocks. It usually develops after a severe injury such as fractures or crush injury, but it can also occurs after a relatively minor injury and it may be iatrogenic. Uncommon causes of ACS have been also described, that suggest surgeons to pay great attention to this serious complication. Diagnosing ACS is difficult in clinical practice, even among expert surgeons. Currently, the diagnosis is made on the basis of physical examination and repeated ICP measures. ICP higher than 30 mmHg of diastolic blood pressure is significant of compartment syndrome. Once diagnosis is made, fasciotomy to release the affected compartment should be performed as early as possible because delayed decompression would lead to irreversible ischemic damage to muscles and peripheral nerves. Conclusion: acute compartment syndrome is a surgical emergency. There is still little consensus among authors about diagnosis and treatment of these serious condition, in particular about the ICP at which fasciotomy is absolutely indicated and the timing of wound closure. New investigations are needed in order to improve diagnosis and treatment of ACS. PMID:25878982

  4. IGSF1 deficiency syndrome

    PubMed Central

    Joustra, Sjoerd D.; van Trotsenburg, A. S. Paul; Sun, Yu; Losekoot, Monique; Bernard, Daniel J.; Biermasz, Nienke R.; Oostdijk, Wilma; Wit, Jan M.

    2013-01-01

    A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy “IGSF1 deficiency syndrome.” Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty. PMID:25002994

  5. Tourette Syndrome: Update.

    PubMed

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  6. Transient amnesic syndromes.

    PubMed

    Bartsch, Thorsten; Butler, Christopher

    2013-02-01

    Transient amnesic syndromes are striking clinical phenomena that are commonly encountered by physicians in acute medical settings. Diagnosis of such syndromes can be challenging, and their causes have been debated for over 50 years. Critical clinical distinctions, such as between transient global amnesia (TGA) and transient epileptic amnesia (TEA), as well as important clues to the underlying pathophysiology, have recently been revealed. TGA is characterized by the sudden onset of a profound anterograde and retrograde amnesia that lasts for up to 24 h, with neuroimaging after an acute TGA event showing transient perturbation of specific hippocampal circuits that are involved in memory processing. Some cases of transient amnesia are attributable to focal seizure activity and are termed TEA, which has a clinical presentation similar to that of TGA, but can be distinguished from the latter by the brevity and frequency of amnesic attacks. Moreover, TEA carries a risk of persistent memory impairment that can be mistaken for dementia. Here, we summarize clinically relevant aspects of transient amnesic syndromes, giving practical recommendations for diagnosis and patient management. We describe results from imaging and epidemiological studies that have shed light on the functional anatomy and pathophysiological mechanisms underlying these conditions. PMID:23296343

  7. RAAS inhibition and cardiorenal syndrome.

    PubMed

    Onuigbo, Macaulay Amechi C

    2014-01-01

    The consensus conference on cardio-renal syndromes (2008) defined 'cardio-renal syndromes' as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other' and identified five subtypes of the syndromes. Various pathophysiologic mechanisms underlie cardiorenal syndrome including hemodynamic derangements, reduced cardiac output leading to impaired renal perfusion, reduced stroke volume, raised atrial filling pressures, elevated atrial pressures, sodium and water retention, venous congestion, right ventricular dysfunction and venous hypertension causing increased renal venous pressure, intra-abdominal hypertension, various neurohormonal adaptations including activation of the renin-angiotensin-aldosterone system, adaptive activation of the sympathetic nervous system, cytokine release and oxidative stress. Although there are standardized clinical guidelines for the management of heart failure, and chronic kidney disease, respectively, there are no similar consensus clinical guidelines for the management of the cardiorenal syndromes. RAAS inhibition is advocated in treating systolic heart failure. There is evidence that RAAS inhibition is also useful in cardiorenal syndrome. However, RAAS inhibition, while potentially useful in the management of cardiorenal syndrome, is not the 'magic bullet', is sometimes limited by adverse renal events, is not applicable to all patients, and must be applied by physicians with due diligence and caution. Nevertheless, a more comprehensive multidisciplinary multipronged approach to managing patients with cardiorenal syndrome is even more pragmatic and commonsense given the multiple mechanisms and pathogenetic pathways implicated in the causation and perpetuation of cardiorenal syndrome. PMID:25549841

  8. Ocular associations of metabolic syndrome

    PubMed Central

    Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

    2012-01-01

    Metabolic syndrome is a cluster of diseases including central obesity, dyslipidemia, hyperglycemia, and high blood pressure. People with metabolic syndrome have been shown to be at an increased risk of developing cardiovascular disease, beyond the risk associated with individual components of the syndrome. The association of diabetes and hypertension with retinopathy, cataract, and raised intraocular pressure is well known. This review highlights the association of metabolic syndrome, including all its components, with various ocular conditions such as retinopathy, central retinal artery occlusion, cataracts, and raised intraocular pressure. PMID:22701846

  9. Genetics Home Reference: Robinow syndrome

    MedlinePLUS

    ... fetus ; gene ; genitalia ; genitals ; gums ; inheritance ; kidney ; kyphoscoliosis ; mineral ; mutation ; pattern of inheritance ; protein ; recessive ; short stature ; stature ; syndrome You may find ...

  10. Myelodysplastic Syndromes, CSR 1975-2005

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  11. Myelodysplastic Syndromes, CSR 1975-2004

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  12. Myelodysplastic Syndromes, CSR 1975-2007

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  13. Myelodysplastic Syndromes, CSR 1975-2008

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  14. Myelodysplastic Syndromes, CSR 1975-2006

    Cancer.gov

    Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic This section includes Myelodysplastic Syndromes (MDS), Chronic Myeloproliferative Disorders (CMD), and Chronic Myelomonocytic Leukemia (CMML).

  15. Prevalence of Carpal Tunnel Syndrome among Individuals with Down Syndrome.

    ERIC Educational Resources Information Center

    Christensen, Jens Erik Just; Peter, Peter Johannsen; Nielsen, Viggo Kamp; Mai, Jesper

    1998-01-01

    Forty-eight patients with Down syndrome were examined clinically and electrophysiologically for occurrence of carpal tunnel syndrome. Twenty-seven patients had normal findings, 13 had prolonged distal motor latency and reduced distal nerve conduction velocity, and 8 patients had one of these signs. Results show that prevalence of…

  16. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    PubMed

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature. PMID:21305864

  17. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

    SciTech Connect

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J.

    1994-11-01

    The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.

  18. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).

    PubMed

    Sakai, Noriyasu; Maeda, Tatsuro; Kawakami, Hiroshi; Uchiyama, Masaki; Harada, Kazutoshi; Tsuboi, Ryoji; Mitsuhashi, Yoshihiko

    2015-07-01

    Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly. PMID:25981987

  19. Sudden arrhythmia death syndrome: importance of the long QT syndrome.

    PubMed

    Meyer, John S; Mehdirad, Ali; Salem, Bakr I; Kulikowska, Agnieszka; Kulikowski, Piotr

    2003-08-01

    In approximately 5 percent of sudden cardiac deaths, no demonstrable anatomic abnormality is found. Some cases are caused by sudden arrhythmia death syndrome. A prolonged QT interval is a common thread among the various entities associated with sudden arrhythmia death syndrome. A number of drugs are known to cause QT prolongation (e.g., terfenadine), as are hypokalemia, hypomagnesemia, myocarditis, and endocrine and nutritional disorders. Recently, attention has focused on a group of inherited gene mutations in cardiac ion channels that cause long QT syndrome and carry an increased risk for sudden death. Some of the highest rates of inherited long QT syndrome occur in Southeast Asian and Pacific Rim countries. The median age of persons who die of long QT syndrome is 32 years; men are predominately affected. In addition to a prolonged QT interval, which occurs in some but not all persons with long QT syndrome, another characteristic electrocardiographic abnormality is the so-called Brugada sign (an upward deflection of the terminal portion of the QRS complex). Most cardiac events are precipitated by vigorous exercise or emotional stress, but they also can occur during sleep. Torsades de pointes and ventricular fibrillation are the usual fatal arrhythmias. Long QT syndrome should be suspected in patients with recurrent syncope during exertion and those with family histories of sudden, unexpected death. Unfortunately, not all persons with long QT syndrome have premonitory symptoms or identifiable electrocardiographic abnormalities, and they may first present with sudden death. Beta blockers, potassium supplements, and implantable defibrillators have been used for treatment of long QT syndrome. Identifying the specific gene mutation in a given patient with long QT syndrome can help guide prophylactic therapy. PMID:12924831

  20. Down Syndrome = Sindrome de Down.

    ERIC Educational Resources Information Center

    Pueschel, S. M.; Glasgow, R. E.

    Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

  1. Noonan's Syndrome and Autoimmune Thyroiditis

    ERIC Educational Resources Information Center

    Vesterhus, Per; Aarskog, Dagfinn

    1973-01-01

    Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

  2. Thyroid Function in Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.; And Others

    1991-01-01

    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)

  3. Prenatal Diagnosis of WAGR Syndrome

    PubMed Central

    Tezcan, Berrin; Rich, Philip; Bhide, Amarnath

    2015-01-01

    Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11. PMID:26605098

  4. HANDBOOK OF MENTAL RETARDATION SYNDROMES.

    ERIC Educational Resources Information Center

    CARTER, CHARLES H.

    THE CLINICAL SYNDROMES WHICH CONTRIBUTE TO THE PRODUCTION OF MENTAL RETARDATION ARE DESCRIBED BY SIGNS, SYMPTOMS, AND ETIOLOGY. SYNDROMES TREATED ARE (1) PRENATAL AND POSTNATAL INFECTIONS, (2) PRENATAL INTOXICATION AND ALLERGIC REACTIONS, (3) PRENATAL TRAUMA, PHYSICAL AGENTS, OR INTOXICATION, (4) BIRTH INJURIES, (5) POSTNATAL POISONS AND ALLERGIC…

  5. Usher's Syndrome: A 1986 Update.

    ERIC Educational Resources Information Center

    Baechle, Cathy L.; Rittenhouse, Robert K.

    The authors describe personal experiences with Usher's Syndrome, a condition involving visual impairment (due to Retinitis Pigmentosa) and deafness. Prevalence and onset of Usher's Syndrome are described along with characteristics of two different types. Problems connected with diagnosis are reviewed, including genetic aspects and the progressive…

  6. Seminar on Usher's Syndrome: Proceedings.

    ERIC Educational Resources Information Center

    Rochester School for the Deaf, NY.

    Summarized are the presentation of M. Vernon and the Comments of primary panelists from a seminar on Usher's Syndrome, a genetic disease involving congenital deafness and progressive loss of vision due to retinitis pigmentosa. The following topics are addressed: genetics today, nature of Usher's Syndrome, symptoms, prevalence, lay diagnosis for…

  7. Fragile X Syndrome. ARC Facts.

    ERIC Educational Resources Information Center

    Association for Retarded Citizens, Arlington, TX.

    Fragile X syndrome is an inherited genetic condition identified by a break or a weakness on the long arm of the X chromosome, and associated with mental retardation. Described on this single-sheet information guide are the prevalence of fragile X syndrome, its increased rate of incidence in boys as compared to girls, physical characteristics,…

  8. Prenatal Tests for Down Syndrome

    MedlinePLUS

    ... Information March of Dimes The March of Dimes Web site has information on Down syndrome, genetic testing, and other birth defects. http://www.modimes.org/pnhec/4439.asp National Institute of Child Health and Human Development Facts About Down Syndrome http://www.nichd.nih. ...

  9. Radiation nephritis causing nephrotic syndrome

    SciTech Connect

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  10. Branchio-oto-renal syndrome.

    PubMed

    Jalil, Jawad; Basheer, Faisal; Shafique, Mobeen

    2014-05-01

    The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome also known as Melnick Fraser syndrome. We present a case of this rare disorder in a girl child who presented with profound deafness, preauricular pits, branchial sinuses and renal hypoplasia. PMID:24848399

  11. Tactile Sensitivity in Asperger Syndrome

    ERIC Educational Resources Information Center

    Blakemore, Sarah-Jayne; Tavassoli, Teresa; Calo, Susana; Thomas, Richard M.; Catmur, Caroline; Frith, Uta; Haggard, Patrick

    2006-01-01

    People with autism and Asperger syndrome are anecdotally said to be hypersensitive to touch. In two experiments, we measured tactile thresholds and suprathreshold tactile sensitivity in a group of adults with Asperger syndrome. In the first experiment, tactile perceptual thresholds were measured. Two frequencies of vibrotactile stimulation were…

  12. Motoric cognitive risk syndrome

    PubMed Central

    Annweiler, Cedric; Ayers, Emmeline; Barzilai, Nir; Beauchet, Olivier; Bennett, David A.; Bridenbaugh, Stephanie A.; Buchman, Aron S.; Callisaya, Michele L.; Camicioli, Richard; Capistrant, Benjamin; Chatterji, Somnath; De Cock, Anne-Marie; Ferrucci, Luigi; Giladi, Nir; Guralnik, Jack M.; Hausdorff, Jeffrey M.; Holtzer, Roee; Kim, Ki Woong; Kowal, Paul; Kressig, Reto W.; Lim, Jae-Young; Lord, Susan; Meguro, Kenichi; Montero-Odasso, Manuel; Muir-Hunter, Susan W.; Noone, Mohan L.; Rochester, Lynn; Srikanth, Velandai; Wang, Cuiling

    2014-01-01

    Objectives: Our objective is to report prevalence of motoric cognitive risk syndrome (MCR), a newly described predementia syndrome characterized by slow gait and cognitive complaints, in multiple countries, and its association with dementia risk. Methods: Pooled MCR prevalence analysis of individual data from 26,802 adults without dementia and disability aged 60 years and older from 22 cohorts from 17 countries. We also examined risk of incident cognitive impairment (Mini-Mental State Examination decline ?4 points) and dementia associated with MCR in 4,812 individuals without dementia with baseline Mini-Mental State Examination scores ?25 from 4 prospective cohort studies using Cox models adjusted for potential confounders. Results: At baseline, 2,808 of the 26,802 participants met MCR criteria. Pooled MCR prevalence was 9.7% (95% confidence interval [CI] 8.2%–11.2%). MCR prevalence was higher with older age but there were no sex differences. MCR predicted risk of developing incident cognitive impairment in the pooled sample (adjusted hazard ratio [aHR] 2.0, 95% CI 1.7–2.4); aHRs were 1.5 to 2.7 in the individual cohorts. MCR also predicted dementia in the pooled sample (aHR 1.9, 95% CI 1.5–2.3). The results persisted even after excluding participants with possible cognitive impairment, accounting for early dementia, and diagnostic overlap with other predementia syndromes. Conclusion: MCR is common in older adults, and is a strong and early risk factor for cognitive decline. This clinical approach can be easily applied to identify high-risk seniors in a wide variety of settings. PMID:25031288

  13. Malalignment Syndrome in Runners.

    PubMed

    Schamberger, Wolf

    2016-02-01

    More than 80% of runners are out of alignment. The standard back examination should include assessment of pelvic alignment. An awareness of pelvic malalignment and the the malalignment syndrome is essential to allow one to provide proper care of a runner. The 3 most common presentations usually respond to a supervised, progressive treatment program. The validity of any research into the biomechanics of running should be questioned if the study has failed to look at whether pelvic malalignment was present and whether the altered, asymmetrical biomechanical changes attributable to the malalignment itself could have affected the results of the study. PMID:26616186

  14. Cardiac Syndrome X: Update.

    PubMed

    Agrawal, Shilpa; Mehta, Puja K; Bairey Merz, C Noel

    2016-01-01

    Cardiac Syndrome X (CSX), characterized by angina-like chest discomfort, ST segment depression during exercise, and normal epicardial coronary arteries at angiography, is highly prevalent in women. CSX is not benign, and linked to adverse cardiovascular outcomes and a poor quality of life. Coronary microvascular and endothelial dysfunction and abnormal cardiac nociception have been implicated in the pathogenesis of CSX. Treatment includes life-style modification, anti-anginal, anti-atherosclerotic, and anti-ischemic medications. Non-pharmacological options include cognitive behavioral therapy, enhanced external counterpulsation, neurostimulation, and stellate ganglionectomy. Studies have shown the efficacy of individual treatments but guidelines outlining the best course of therapy are lacking. PMID:26567981

  15. Management of Hypereosinophilic Syndromes.

    PubMed

    Roufosse, Florence

    2015-08-01

    The symptomatic hypereosinophilic patient must be approached in a stepwise manner, with thorough assessment to determine whether the hypereosinophilia itself is contributing to damage and disease manifestations (thereby defining a hypereosinophilic syndrome), and to identify an eventual cause of hypereosinophilia, followed by initiation of treatment directed against the underlying condition or deleterious hypereosinophilic state. Situations encountered in the clinic are extremely heterogeneous because of the numerous potential causes of hypereosinophilia and the variable spectrum of eosinophil-mediated organ damage. A practical approach to many of these situations is presented in this review. PMID:26209900

  16. Atypical Hemolytic Uremic Syndrome

    PubMed Central

    Kavanagh, David; Goodship, Tim H.; Richards, Anna

    2013-01-01

    Summary Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is reported, suggesting that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The underlying genetic defect predicts the prognosis both in native kidneys and after renal transplantation. The successful trials of the complement inhibitor eculizumab in the treatment of atypical HUS will revolutionize disease management. PMID:24161037

  17. Carpal Tunnel Syndrome

    PubMed Central

    Hodgkins, Michael L.; Grady, Deborah

    1988-01-01

    Carpal tunnel syndrome is a common and potentially disabling condition. When suspected, the diagnosis can be readily made on clinical evidence without the the need for extensive ancillary tests. Primary physicians should be able to manage most patients with medical therapy. Patients for whom medical treatment fails or who present with weakness or thenar atrophy should be referred to a competent hand surgeon. Most patients can expect to have a good outcome if the diagnosis is made early, appropriate therapy is instituted, and a periodic reassessment is done to guide further clinical decisions. Images PMID:3348036

  18. Ehlers-Danlos syndrome.

    PubMed

    Taj, Farhana Tahseen; Sajjan, Vijaya V; Singh, Dolly

    2014-11-01

    Ehlers-Danlos syndrome (EDS) is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4(th) century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature. PMID:25506578

  19. Trigeminal trophic syndrome.

    PubMed

    Kumar, Parimalam; Thomas, Jayakar

    2014-01-01

    Trigeminal trophic syndrome (TTS) is a rare cause of facial ulceration, consequent to damage to the trigeminal nerve or its central sensory connections. We reporta case of TTS in a 48-year-old woman with Bell's palsy following herpes zoster infection. The patient was treated and counseled. There hasnot been any recurrence for 1 year and the patient is being followed-up. The diagnosis of TTS should be suspected when there is unilateral facial ulceration, especially involving the ala nasi associated with sensory impairment. PMID:24470665

  20. Ectopic ACTH syndrome.

    PubMed

    Wajchenberg, B L; Mendonça, B; Liberman, B; Adelaide, M; Pereira, A; Kirschner, M A

    1995-06-01

    Ectopic ACTH syndrome represents a cancer-induced amplification of a property [proopiomelanocortin (POMC) peptides production] normally present in the cells from which the cancer originated but with aberrant posttranslational processing of POMC resulting in a greatly elevated secretion of ACTH precursors. The classic ectopic ACTH-producing tumors described in the 1960s were highly malignant but more recently slowly growing tumors such as carcinoids are reported with increasing frequency. Clinical features of patients with ectopic ACTH were analyzed, including biochemical abnormalities, plasma ACTH, cortisol and urinary steroids. Dynamic tests such as high-dose dexamethasone suppression, metyrapone and ovine-CRH (oCRH) stimulation were explored, as well as inferior petrosal sinus ACTH sampling before and after oCRH. Among the tumor markers examined, elevation of ACTH precursors was uniformly present followed by increased output of calcitonin, gut hormones, oncofetal and placental hormones in decreasing order. Since more than 90% of ectopic ACTH tumors are neuroendocrine in nature exhibiting APUD characteristics, their 2 markers, neuron-specific enolase and chromogranins are very useful. The imaging procedures for localization of the tumor ranged from chest X-rays to computed tomography and magnetic resonance of the chest and abdomen. Abdominal ultrasonography was also useful. Finally somatostatin receptor scintigraphy permitted demonstration of unrecognized tumors and/or metastases, even when the tumors were occult. The ACTH content, immunostaining for APUD markers and altered POMC processing were evaluated in ectopic tumors and/or metastases. Occult ectopic ACTH syndrome of more than 4-6 months of symptoms without the emergence of an obvious source was reviewed. Since the tumors are often clinically and biochemically undistinguishable from pituitary-dependent Cushing's disease, inferior petrosal sinus sampling for ACTH after oCRH stimulation established the diagnosis in over 90% of the cases. 60% of the occult tumors were thoracic carcinoids (3/4 bronchial carcinoids), followed by small cell lung cancer and pancreatic neuroendocrine tumors. In 12% the primary etiology was not detected. The rare syndrome of ectopic CRH syndrome (6 published cases) leading to excessive stimulation of the pituitary which became hyperplastic and secreted excessive amounts of ACTH is discussed. Finally, the 12 published cases and 1 unreported patient with ectopic CRH-ACTH tumors were reviewed, the majority being metastatic small cell lung carcinomas, bronchial and thymic carcinoids. PMID:7626446

  1. Syndrome in Question*

    PubMed Central

    Meireles, Sheila Itamara Ferreira do Couto; de Andrade, Sônia Maria Fonseca; Gomes, Maria Fernanda; Castro, Fernanda Almeida Nunes; Tebcherani, Antonio José

    2014-01-01

    Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

  2. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    ERIC Educational Resources Information Center

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  3. Are Numerical Impairments Syndrome Specific? Evidence from Williams Syndrome and Down's Syndrome

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  4. Brown's syndrome: diagnosis and management.

    PubMed Central

    Wright, K W

    1999-01-01

    PURPOSE: To better understand the various etiologies of Brown's syndrome, define specific clinical characteristics of Brown's syndrome, describe the natural history of Brown's syndrome, and evaluate the longterm outcome of a novel surgical procedure: the silicone tendon expander. Also, to utilize a computer model to simulate the pattern of strabismus seen clinically with Brown's syndrome and manipulate the model to show potential surgical outcomes of the silicone tendon expander. METHODS: Charts were reviewed on patients with the diagnosis of Brown's syndrome seen at a children's hospital ophthalmology clinic from 1982 to 1997, or seen in the author's private practice. Objective fundus torsion was assessed in up gaze, down gaze, and primary position in 7 Brown's syndrome patients and in 4 patients with primary superior oblique overaction. A fax survey was taken of members of the American Association of Ophthalmology and Strabismus (AAPOS) listed in the 1997-1998 directory regarding their results using the silicone tendon expander procedure for the treatment of Brown's syndrome. A computer model of Brown's syndrome was created using the Orbit 1.8 program by simulating a shortened superior oblique tendon or by changing stretch sensitivity to create an inelastic muscle. RESULTS: A total of 96 patients were studied: 85 with Brown's syndrome (38 with congenital and 47 with acquired disease), 6 with masquerade syndromes, 1 with Brown's syndrome operated on elsewhere, and 4 with primary superior oblique overaction in the torsion study. Three original clinical observations were made: 1. Significant limitation of elevation in abduction occurs in 70% of Brown's syndrome cases surgically verified as caused by a tight superior oblique tendon. Contralateral pseudo-inferior oblique overaction is associated with limited elevation in abduction. 2. Traumatic Brown's syndrome cases have larger hypotropias than nontraumatic cases (P < .001). There was no significant hypotropia in primary position in 56 (76%) of 74 congenital and nontraumatic acquired cases despite severe limitation of elevation. 3. Of 7 patients with Brown's syndrome, 6 had no significant fundus torsion in primary position, but had significant (+2 to +3) intorsion in up gaze. Spontaneous resolution occurred in approximately 16% of acquired nontraumatic Brown's syndrome patients. The silicone tendon expander was used on 15 patients, 13 (87%) were corrected with 1 surgery and 14 (93%) with 2 surgeries. The only failure was a Brown's syndrome not caused by superior oblique pathology. Five of the silicone tendon expander patients had at least 5 years follow-up (range, 5 to 11 years). Four (80%) of the 5 patients had an excellent outcome with 1 surgery, final results graded between 9 and 10 (on a scale of 1-10, 10 is best). The fifth patient had a consecutive superior oblique paresis and a good outcome after a recession of the ipsilateral inferior oblique muscle. The AAPOS survey had a mean outcome score of 7.3, with 65% between 8 and 10. There were 9 (6%) complications reported: 4 related to scarring and 5 extrusions of the implant. Three of the 5 extrusions were reported from the same surgeon. The computer model of an inelastic superior oblique muscle-tendon complex best simulated the motility pattern of Brown's syndrome with severe limitation of elevation in adduction, mild limitation of elevation in abduction, minimal hypotropia in primary position, no superior oblique overaction, and intorsion in up gaze. CONCLUSIONS: The presence of mild to moderate limitation of elevation in abduction is common, and its presence does not eliminate the diagnosis of Brown's syndrome. The majority of Brown's syndrome patients have a pattern of strabismus consistent with an inelastic superior oblique muscle-tendon complex that does not extend, but can contract normally; not the presence of a short tendon. The presence of inelastic or tethered superior oblique muscle-tendon can be diagnosed without forced duction testing by observing the pattern of strabismus including torsion. Because of

  5. Language and Literacy in Turner Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  6. Cri-du-Chat Syndrome Biochemistry 118

    E-print Network

    Brutlag, Doug

    Cri-du-Chat Syndrome Oz Hasbún Biochemistry 118 Fall 2010 #12;· Cri-du-chat syndrome, also known deletion of the short arm of chromosome 5. What is Cri-du-chat Syndrome? Approximately 12% of the deletions delay. Cri-du-chat (cat's cry) Syndrome acquires its name from the characteristic high-pitched cry

  7. [Polyglandular autoimmune syndromes].

    PubMed

    Maurer, A; Schwarting, A; Kahaly, G J

    2011-11-01

    Polyglandular autoimmune syndromes (PGA) are a heterogeneous group of diseases in which a genetically caused dysfunction of the immune system leads to a destruction of endocrine glands with subsequent loss of function. In addition non-endocrine autoimmune diseases are also frequently present. Due to different patterns of inheritance and occurrence of disease a differentiation is made between juvenile PGA (also called APECED, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) with a monogenetic alteration of the AIRE (autoimmune regulator) gene, different ethnic distribution and a typical triad of diseases and the adult form, mainly conditioned by mutations of the HLA (human leukocyte antigens) alleles on chromosome 6. The article will briefly deal with the very rare IPEX (immune dysfunction, polyendocrinopathy, enteropathy, x-linked) syndrome, where the FOXP3 gene on chromosome X is altered. Important for the diagnosis are the clinical appearance and functional tests of the endocrine glands and the testing for antibodies. Additionally for PGA I and IPEX genetic testing is advisable. Currently patient-adjusted hormone replacement therapy is very important and screening of family members is recommended. PMID:22033826

  8. Scleroderma overlap syndromes.

    PubMed

    Pope, Janet E

    2002-11-01

    Scleroderma is a connective tissue disease that causes fibrosis and vascular abnormalities, but that also has an autoimmune component. Many patients with scleroderma have a positive antinuclear antibody, and there can be family histories of other connective tissue diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis. Some patients have features of scleroderma and other autoimmune conditions. This article will review recent literature to help in the understanding of scleroderma with overlap features. Recent reports of scleroderma overlap with rheumatoid arthritis suggest distinct features of diffuse scleroderma with positive Scl-70, pulmonary fibrosis, and later seropositive erosive rheumatoid arthritis. SLE rarely occurs with scleroderma. Sjögren syndrome symptoms are common in scleroderma. In primary Sjögren syndrome, anticentromere antibody positive patients have more Raynaud phenomenon. Antibodies that occur in scleroderma that are thought to be specific are present in other connective tissue diseases. For instance, Scl-70 antibody is reported in as many as 35% of patients with scleroderma but can be present in 25% of patients with SLE. Myositis or myopathy can be features of scleroderma. Scleroderma overlap with polymyositis is frequently anti-PM Scl antibody positive, whereas anti-Jo-1 does not normally occur in the overlap of scleroderma and polymyositis but is usually exclusively positive in polymyositis with arthritis and alveolitis. A better prognosis is found with PM Scl antibody in myositis. Vasculitis is not a typical feature of scleroderma, but has been reported. Eosinophilic fasciitis is rare, and the onset could be associated with simvastatin. PMID:12410095

  9. Complex regional pain syndrome

    PubMed Central

    Palmer, Greta

    2015-01-01

    SUMMARY Complex regional pain syndrome is an uncommon chronic pain condition. It develops spontaneously or following an injury. The features are limb pain, allodynia, hypersensitivity, hyperalgesia, abnormalities of the vasomotor, sudomotor and motor systems, and trophic changes, with reduced use of the affected limb. The diagnosis is clinical and one of exclusion. The emphasis of therapy is graded rehabilitation and movement of the limb with physiotherapy and occupational therapy. Psychological therapies should be offered if a patient is making no or slow progress in the acute phase, and to all patients in the chronic phase as depression can occur. The goal of pharmacotherapy is to assist functional improvement. The early phase may be managed with simple analgesia. Antineuropathic drugs including tricyclic antidepressants and antiepileptic drugs may be added. Other treatments with some evidence of effectiveness include corticosteroids, calcitonin and bisphosphonates. Vitamin C has been used for primary prevention after wrist fracture and upper and lower limb surgery. There is no evidence that it is effective for treating established complex regional pain syndrome. PMID:26648626

  10. Middle East respiratory syndrome.

    PubMed

    Zumla, Alimuddin; Hui, David S; Perlman, Stanley

    2015-09-01

    Middle East respiratory syndrome (MERS) is a highly lethal respiratory disease caused by a novel single-stranded, positive-sense RNA betacoronavirus (MERS-CoV). Dromedary camels, hosts for MERS-CoV, are implicated in direct or indirect transmission to human beings, although the exact mode of transmission is unknown. The virus was first isolated from a patient who died from a severe respiratory illness in June, 2012, in Jeddah, Saudi Arabia. As of May 31, 2015, 1180 laboratory-confirmed cases (483 deaths; 40% mortality) have been reported to WHO. Both community-acquired and hospital-acquired cases have been reported with little human-to-human transmission reported in the community. Although most cases of MERS have occurred in Saudi Arabia and the United Arab Emirates, cases have been reported in Europe, the USA, and Asia in people who travelled from the Middle East or their contacts. Clinical features of MERS range from asymptomatic or mild disease to acute respiratory distress syndrome and multiorgan failure resulting in death, especially in individuals with underlying comorbidities. No specific drug treatment exists for MERS and infection prevention and control measures are crucial to prevent spread in health-care facilities. MERS-CoV continues to be an endemic, low-level public health threat. However, the virus could mutate to have increased interhuman transmissibility, increasing its pandemic potential. PMID:26049252

  11. Preeclampsia: Syndrome or Disease?

    PubMed

    Myatt, Leslie; Roberts, James M

    2015-11-01

    The focus on disease mechanisms underlying the hypertension and proteinuria defining preeclampsia has increased knowledge of the pathophysiology yet we lack both therapy and predictors. We propose this is in part due to the fact that diagnostic findings identify a "preeclampsia syndrome" but do not necessarily indicate the most important pathophysiology nor if organs are involved as cause or consequence. The increased risk for later life cardiovascular disease in women who develop preeclampsia suggests the stress test of pregnancy exposes pre-existing subclinical vascular disease. The dogma that inadequate trophoblast invasion and ischemia/reperfusion injury to the placenta is "the" cause of preeclampsia is more relevant to early onset preeclampsia (<34 weeks). There is much less evidence for defective placentation in late onset preeclampsia where maternal constitutive factors or susceptibility to vascular damage is more relevant. The contribution of differing disease phenotypes to the syndrome may explain the inability of biomarker studies to identify all preeclampsia. Identification of phenotypes will require large amounts of prospective clinical data and biospecimens, collected in a harmonized manner with analysis in an unbiased discovery approach. PMID:26362531

  12. Complications of nephrotic syndrome

    PubMed Central

    Park, Se Jin

    2011-01-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox), thromboembolism (e.g., venous thromboembolism and pulmonary embolism), hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension), cardiovascular problems (e.g., hyperlipidemia), acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception). The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS. PMID:22087198

  13. Metabolic Syndrome: Hyperlipidemia.

    PubMed

    Bragg, Dee Ann Stults; Walling, Anne

    2015-08-01

    Metabolic syndrome is associated with an elevated risk of cardiovascular disease and premature mortality. When metabolic syndrome includes lipid abnormalities, management goals are weight loss and cardiovascular risk management through lifestyle modifications (eg, diet, exercise), and, when appropriate, lowering of lipid levels with pharmacotherapy. Healthy diets are recommended, particularly the Mediterranean diet. Patients also should set a goal of at least 30 minutes of moderate to vigorous exercise on most, preferably all, days of the week. Guidelines provide criteria for statin treatment based on overall cardiovascular risk. High-intensity statin treatment (eg, rosuvastatin 20 to 40 mg, atorvastatin 40 to 80 mg) typically is recommended unless the patient cannot tolerate therapy. Approximately 5% of patients experience statin-induced myalgia, in which case moderate-intensity treatment can be tried. Lipid levels should be reevaluated 4 to 12 weeks after initiating therapy; lipid levels can be measured without fasting. A lack of improvement often indicates nonadherence. Bile acid sequestrants, fibric acids, and niacin can be used if other drugs are not tolerated. The evidence to support use of integrative medicine is limited, but the strongest evidence of benefit is for garlic (Allium sativum). PMID:26280341

  14. Down syndrome and consanguinity

    PubMed Central

    Rezayat, Amir Akhavan; Nazarabadi, Mohammad Hassanzadeh; Andalibi, Mohammad Sobhan Sheikh; Ardabili, Hossein Mohaddes; Shokri, Maryam; Mirzaie, Salmeh; Jarahi, Lida

    2013-01-01

    Background: Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome. The aim of the current survey was to investigate the frequency of parental consanguinity, maternal age in the patients with DS. Materials and Methods: This study was conducted on 38 consecutive patients with clinically and laboratory confirmed DS who referred to the genetic lab of a referral University Hospital. The G-banding method for karyotyping was employed. Results: The patients were 21 males and 17 females within the age of 16 days to 28 years old. Free trisomy (92.1%, n = 35) was the most common chromosomal abnormality. The frequency of DS was higher among the non-consanguine marriages (71.1%) in comparison with the consanguine marriages (28.9%). Mean age of the mothers in the consanguine marriages (mean = 27.1 ± 6.3) was lower than in the non-consanguine marriages (mean = 31.1 ± 7.7). Conclusion: Higher frequency of DS among the non-consanguine marriages in comparison with the consanguine marriages, may suggest that DS diagnostic tests might be done on all embryos regardless of the parents’ familial relationship. PMID:24523787

  15. Skin manifestations in autoinflammatory syndromes.

    PubMed

    Braun-Falco, Markus; Ruzicka, Thomas

    2011-03-01

    Autoinflammatory diseases encompass a group of inflammatory diseases that are non-infectious, non-allergic, non-autoimmune and non-immunodeficient. The term was initially coined for a small group of familial periodic fever syndromes of which familial Mediterranean fever (FMF) is the most common and best known. Genetic and molecular analyses demonstrated for the majority of these diseases an impairment of inflammasomes to cause an increased activity of an interleukin-1-dependent inflammatory response. Over the last years an increasing number of either rare hereditary syndromes or acquired common diseases could be summarized under the designation of autoinflammatory disease, thus creating an emerging new rubric of inflammatory diseases. Many of them display cutaneous manifestations as both concomitant or more rarely main symptoms. To name some of them like erysipelas-like erythema in FMF; urticaria-like rashes in tumor necrosis factor receptor 1- or cryopyrin-associated periodic syndromes (TRAPS, CAPS), hyperimmunoglobulin D syndrome (HIDS) or Schnitzler syndrome; pyoderma gangrenosum and acne in PAPA syndrome; or behçetoid aphthous ulcerations in HIDS and PFAPA syndrome. Based on the new insights into pathogenesis one increasingly realizes the good response of these diseases to IL-1 antagonist therapies. PMID:21176105

  16. Ibrutinib and Azacitidine for Treatment of Higher Risk Myelodysplastic Syndrome

    ClinicalTrials.gov

    2015-09-16

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Refractory Anemia With Excess Blasts in Transformation; Secondary Myelodysplastic Syndrome

  17. Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence.

    PubMed

    Cascone, Piero; Papoff, Paola; Arangio, Paolo; Vellone, Valentino; Calafati, Vincenzo; Silvestri, Alessandro

    2014-10-01

    Pierre Robin Sequence (PRS) is a congenital abnormality characterized by mandibular hypoplasia, glossoptosis and often secondary palate cleft. It may be an isolated or part of a most complicated syndrome. The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by skeletal abnormalities, joint pain, congenital myopia and retinal detachment. The authors describe their fast and early mandibular osteodistraction (FEMOD) protocol in severe cases of PRS airway obstruction. PMID:24787079

  18. Persistent hypereosinophilia with Wells syndrome.

    PubMed

    Powell, J; Salim, A; Muc, R; Colloby, P; Kaur, M R

    2013-01-01

    Since Wells and Smith first described cases of eosinophilic cellulitis (Wells syndrome; WS) in 1979, it has been noted that some but not all patients with WS present with eosinophilia. In the face of idiopathic persistent eosinophilia patients will also then fall within the hypereosinophilic syndrome (HES), which represents a multifarious spectrum of disorders of varying severity, causes and outcomes. In this article we propose that patients who present within the HES spectrum with cutaneous findings of WS and with no extracutaneous disease be classified as having 'persistent hypereosinophilia with Wells syndrome' (PHEWS). PMID:22607377

  19. Sopite syndrome: a revised definition.

    PubMed

    Matsangas, Panagiotis; McCauley, Michael E

    2014-06-01

    In 1976, Graybiel and Knepton proposed the term "sopite syndrome" to describe a symptom complex centering on drowsiness and lethargy related to motion sickness. However, existing descriptions and definitions of sopite syndrome have limitations in fully conveying the appropriate information to the reader. Our objective is to propose a revised definition providing a more adequate conceptual framework for research. The proposed definition of sopite syndrome addresses the nonspecificity of soporific symptoms, the health state of the individuals, and the existence of a motion stimulus. PMID:24919391

  20. The Laugier-Hunziker syndrome.

    PubMed

    Lenane, P; Sullivan, D O; Keane, C O; Loughlint, S O

    2001-11-01

    Laugier and Hunziker described a syndrome consisting of asymptomatic benign areas of hyperpigmentation affecting the lips, buccal mucosa and, in 50%, the fingernails. We report a 67-year-old woman with the clinical features of Laugier-Hunziker syndrome in association with vulval pigmentation. Histology, immunohistochemistry and electron microscopy from the various areas of pigmentation on the body confirmed the benign nature of the pigmentation. We review potential causes of oral and genital pigmentation, and suggest an expansion of the original syndrome described by Laugier and Hunziker to include more widespread areas of benign hyperpigmentation, which may associated. PMID:11843221

  1. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with ?-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose ?-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the disease is usually good in patients that are correctly diagnosed and treated. However, there are a few exceptions: patients with Timothy syndrome, patients with Jervell Lange-Nielsen syndrome carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of cardiac arrhythmias. PMID:18606002

  2. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    PubMed Central

    Singh, K. K.; Kumar, R.; Prakash, J.; Krishna, A.

    2015-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  3. Klinefelter's syndrome in adolescence.

    PubMed Central

    Ratcliffe, S. G.; Bancroft, J.; Axworthy, D.; McLaren, W.

    1982-01-01

    Twelve boys with Klinefelter's syndrome (47,XXY) identified by sex chromatin screening at birth were examined at between ages 16 and 18 years, together with 12 controls matched for social class and birth order from the same newborn population. Physical examination, psychometric assessment, personality, and degree of psychosexual development were assessed without knowledge of the karyotype. Anthropometry showed increased leg length and decreased head circumference in the XXY boys. Gynaecomastia was present in 4 boys, and testicular volume was reduced in the majority but one boy had normal sized testes. On the Wechsler intelligence scale there was a significant reduction in verbal score but not in either performance or full-scale score compared with the controls. Although appreciable differences were found in growth, personality, intelligence test scores, and psychosexual development, these were of small degree. PMID:7065696

  4. [Peripheral anticholinergic syndrome].

    PubMed

    Valencia Zavala, Martha Patricia; Vega Robledo, Gloria Bertha; Sánchez Olivas, Jesús Alberto; Sánchez Olivas, Manuel A; Montes Montes, José; Duarte Díaz, Rosa Janet; León Oviedo, Cristóbal

    2007-01-01

    This is a case report of a woman of 38 years old, studied and analyzed at the service of allergy and immunology with clinical manifestations of allergic rhinitis; studies of laboratory, cabinet and intradermal test were made to corroborate this diagnosis and the treatment with specific hyposensitization, oral antihistaminines and inhaled steroids was started. Two years later the patient referred urinary retention without important antecedents, so, a peripheral anticholinergic syndrome (PAS) was suspected, a urodynamic test study was carried out consisting in a uroflujometry, static and dynamic urethral profile, cystometry, flow pressure study and electromyography, which diagnosed low urinary obstruction (functional) and vesical sphincter pseudodysfunction, demonstrating the PAS associated with oral antihistamines. PMID:17542247

  5. Fibromyalgia syndrome. New associations.

    PubMed

    Waylonis, G W; Heck, W

    1992-12-01

    Previous research has demonstrated a number of conditions, such as sleep disturbance, fatigue, depression, spastic colon and mitral valve prolapse, associated with fibromyalgia. The present report describes additional symptoms and medical conditions that appear to be associated with the syndrome based on a survey of 554 individuals with fibromyalgia compared with a group of 169 controls. Individuals with fibromyalgia self report a greater incidence of bursitis, chondromalacia, constipation, diarrhea, temporomandibular joint dysfunction, vertigo, sinus and thyroid problems. Symptomatic complaints found statistically more prevalent in fibromyalgia patients included concentration problems, sensory symptoms, swollen glands and tinnitus. Other associations occurring with significant increased frequency were chronic cough, coccygeal and pelvic pain, tachycardia and weakness. Our previous report on inheritance patterns in fibromyalgia was reaffirmed with 12% reporting symptomatic children and 25% reporting symptomatic parents. Of the respondents, 70% noted that their symptoms were aggravated by noise, lights, stress, posture and weather. PMID:1466872

  6. [Acute respiratory distress syndrome].

    PubMed

    Gaudry, Stéphane; Ricard, Jean-Damien; Dreyfuss, Didier

    2012-11-01

    Acute respiratory distress syndrome (ARDS) is a permeability pulmonary edema due to lung injury from various causes. In 2012, a new definition, taking into account the degree of hypoxemia and the level of positive end-expiratory pressure (PEEP), was published. In addition to progress in the support of organ failures in intensive care, mortality in patients suffering from ARDS has decreased significantly. This improved prognosis is also due to the advent of protective mechanical ventilation that has limited ventilator-induced lung injury (VILI). The treatment of ARDS consists on causative treatment and a strategy of protective ventilation associated with a PEEP level between 10 and 15 cm H20 and the use of prone position or inhaled nitric oxide in the severest cases. The role of extracorporeal membrane oxygenation as adjuvant therapy in ARDS remains unclear. PMID:23272466

  7. “Skid Row” Syndrome

    PubMed Central

    Olin, Jack S.

    1966-01-01

    From skid row, 227 chronic “drunks”, inmates of the Toronto Jail, were studied to determine the physical features and illnesses of this group. Complete physical examinations, liver function tests, routine hematology, urinalysis, chest radiographs were carried out and previous hospital records were obtained for each man. The data were analyzed by IBM computer and reported in terms of body systems. Items that occurred in sufficient frequency were separated out and listed to compile a “skid row” syndrome. The men averaged 45 years of age, had been drinking heavily for 20 years and had four drunken convictions a year. Tuberculosis was found in 8.8%. Epilepsy was confirmed in 8%. Cirrhosis of the liver was definite in 3% of the group; 75% were under the Canadian average weight, and 25% had significant body deformities. It was estimated that, if necessary therapy was carried out, 90% of the men would be able to perform useful labour. PMID:5947765

  8. Cannabinoid Hyperemesis Syndrome

    PubMed Central

    Sun, Shusen; Zimmermann, Anthony E.

    2013-01-01

    Background: The purpose of this review is to describe cannabinoid hyperemesis syndrome (CHS), which is thought to be induced by long-term cannabis use, and provide clinical pharmacists with information to manage the hyperemetic phase of CHS. Method: Published literature was searched and reviewed using PubMed. Results: CHS is characterized by intractable nausea and vomiting without an obvious organic cause and associated learned compulsive hot water bathing behavior. Patients often seek care in the emergency department (ED) for symptomatic relief. Conclusion: CHS is potentially underrecognized and underdiagnosed in the ED, and it should be considered in the differential diagnosis in long-term cannabis use patients with CHS symptoms to avoid unnecessary extensive diagnostic workup including invasive radiologic imaging. Pharmacists have an important role in CHS recognition, education, and symptom management. PMID:24421535

  9. Thoracic outlet syndrome.

    PubMed

    Ozoa, Glenn; Alves, Daniel; Fish, David E

    2011-08-01

    Of the many clinical entities involving the neck region, one of the most intriguing is thoracic outlet syndrome (TOS). TOS is an array of disorders that involves injury to the neurovascular structures in the cervicobrachial region. A classification system based on etiology, symptoms, clinical presentation, and anatomy is supported by most physicians. The first type of TOS is vascular, involving compression of either the subclavian artery or vein. The second type is true neurogenic TOS, which involves injury to the brachial plexus. Finally, the third and most controversial type is referred to as disputed neurogenic TOS. This article aims to provide the reader some understanding of the pathophysiology, workup, and treatment of this fascinating clinical entity. PMID:21824588

  10. Hypothenar hammer syndrome.

    PubMed

    Schröttle, Angelika; Czihal, Michael; Lottspeich, Christian; Kuhlencordt, Peter; Nowak, Dennis; Hoffmann, Ulrich

    2015-05-01

    The diagnosis of hypothenar hammer syndrome (HHS) should be considered in the case of hand ischemia in people who occupationally or recreationally use the hypothenar region literally as a ?hammer?. Routine diagnostics should consist of physical examination including Allen?s test, acral plethysmography and duplex sonography. According to the prevailing opinion angiography remains the «gold standard test» for establishing the diagnosis of HHS. Early diagnosis allows more effective therapeutic strategies and is important to prevent long-term negative medical sequelae. Several basic principles apply to all patients, for example hand protection and smoking cessation. The optimal treatment options, particularly the indication for surgery, remain controversial due to a lack of sound data from case series or prospective randomized trials. PMID:26098321

  11. Becker's Nevus Syndrome.

    PubMed

    Dasegowda, Sathyanarayana B; Basavaraj, Gb; Nischal, Kc; Swaroop, Mr; Umashankar, Np; Swamy, Suchetha S

    2014-07-01

    Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker's nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker's nevus was found. PMID:25071279

  12. Cat eye syndrome.

    PubMed

    Sharma, Deepak; Murki, Srinivas; Pratap, Tejo; Vasikarla, Madhavi

    2014-01-01

    A full-term female baby, a product of non-consanguineous marriage, was born at 37?weeks of gestation with a birth weight of 2.08?kg. Antenatal scan at 31?weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome. PMID:24842361

  13. Snapping pes anserine syndrome.

    PubMed

    Rainey, Charles E; Taysom, Danielle A; Rosenthal, Michael D

    2014-01-01

    The patient was a 25-year-old man who was serving in the military. He was referred to a physical therapist for a progressively worsening painful snapping sensation in the posteromedial left knee region. Prior magnetic resonance imaging for the left knee was interpreted as normal, except for a mild fluid signal about the left pes anserine bursa. The patient was diagnosed with snapping pes anserine syndrome. However, despite 6 weeks of physical therapist intervention, the patient did not improve. A dynamic real-time ultrasound examination was then ordered, which demonstrated that the pes anserine tendons changed position as the knee moved from flexion to extension, sliding across a heterogeneous rounded mass in the posteromedial knee. PMID:24380407

  14. Purple Urine Bag Syndrome.

    PubMed

    Abubacker, Naufal Rizwan Taraganar; Jayaraman, Senthil Manikandan Thirumanilayur; R, Kannan; Sivanesan, Magesh Kumar; Mathew, Renu

    2015-08-01

    Purple urine bag syndrome (PUBS) is a rare disorder seen in elderly persons, wherein the urinary bag and the tubing turn in to purple colour. It is usually seen in patients who are on urinary catheters for a long time. Purple coloured urine occurs due to the accumulation of indigo and indirubin, which are the end products of tryptophan metabolism due to the action of sulfatases and phosphatases formed by bacteria like Providencia, Citrobacter, Enterobacter, Klebsiella etc. We present this interesting phenomenon of purple urine in a young male who was on prolonged urinary catheterization. The urine culture was positive for Providencia and constipation was an added risk factor for the purple urine. The urinary catheter and tubing was changed along with a course of antibiotics which lead to the normalization of the urine colour. PMID:26435987

  15. Child neurology: Zellweger syndrome.

    PubMed

    Lee, Paul R; Raymond, Gerald V

    2013-05-14

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

  16. 4: Polycystic ovary syndrome.

    PubMed

    Norman, Robert J; Wu, Ruijin; Stankiewicz, Marcin T

    2004-02-01

    Polycystic ovary syndrome (PCOS) is a common condition characterised by menstrual abnormalities and clinical or biochemical features of hyperandrogenism. Features of PCOS may manifest at any age, ranging from childhood (premature puberty), teenage years (hirsutism, menstrual abnormalities), early adulthood and middle life (infertility, glucose intolerance) to later life (diabetes mellitus and cardiovascular disease). While pelvic ultrasound examination is useful, many women without PCOS have polycystic ovaries; ultrasound evidence is not necessary for the diagnosis. Testing for glucose intolerance and hyperlipidaemia is wise, especially in obese women, as diabetes mellitus is common in PCOS. Lifestyle changes as recommended in diabetes are fundamental for treatment; addition of insulin-sensitising agents (eg, metformin) may be valuable in circumstances such as anovulatory infertility. Infertility can be treated successfully in most women by diet and exercise, clomiphene citrate with or without metformin, ovarian drilling, or ovulation induction with gonadotrophins; in-vitro fertilisation should be avoided unless there are other indications. PMID:14748678

  17. [Chediak-Higashi syndrome].

    PubMed

    Wolf, J; Jacobi, C; Breer, H; Grau, A

    2006-02-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients. PMID:16205875

  18. An aripiprazole discontinuation syndrome.

    PubMed

    Philip, Noah S

    2013-02-01

    Major depression is a common and debilitating illness. Over recent years, new pharmacologic treatments have been approved for this disorder, including the atypical antipsychotics. One of the benefits of these medications is their significant efficacy as augmenting agents for unipolar, nonpsychotic major depressive disorder (MDD).Aripiprazole (marketed as Abilify, Bristol-Myers Squibb/ Otsuka Pharmaceuticals) was the first medication of this class approved for adjunctive treatment of MDD, and is the 5th most commonly prescribed medication in the United States in 2010. However, despite the frequency of its use, little has been described regarding events surrounding aripiprazole discontinuation. Here I describe what is, to my knowledge, the first reported case of an aripiprazole discontinuation syndrome. While directly relevant to psychiatrists and behavioral specialists, the symptoms described here are pertinent for internists and neurologists who may encounter this medication in their clinical practice. PMID:24933746

  19. Alström syndrome: current perspectives

    PubMed Central

    Álvarez-Satta, María; Castro-Sánchez, Sheila; Valverde, Diana

    2015-01-01

    Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies. PMID:26229500

  20. Chronic fatigue syndrome.

    PubMed

    Mawle, A C

    1997-01-01

    Chronic fatigue syndrome (CFS) has emerged as a public health concern over the past decade. A working case definition was created in 1988 and revised in 1994, and this has been used to establish prevalence estimates using physician-based surveillance and an a random digit dial telephone survey. Although CFS has some characteristics of an infectious disease, so far no infectious agent has been associated with the illness. Studies of immune function in CFS patients failed to detect differences between cases and healthy controls. However, when cases were subgrouped according to whether they had a sudden or gradual onset, differences in immunologic markers were detected between cases and their matched controls. PMID:9037629

  1. Case report: Alagille syndrome.

    PubMed

    Guadagni, M G; Cocchi, S; Tagariello, T; Piana, G

    2005-10-01

    The clinical case of a boy aged 6 years suffering from Alagille syndrome is described. This is a rare genetic disease characterised, from the hepatic point of view, by anomalies of the intrahepatic biliary ducts (in terms of number, histology and immunohistochemistry) with cholestasis; from the systemic point of view it is characterised by anomalies of various systems (heart, musculoskeletal system, eyes, face, kidneys and nervous system). The patient was referred for dental consultation by the Pediatric Cardiology Section, Sant'Orsola-Malpighi Polyclinic, Bologna City Hospital. Medical history indicated liver transplantation at 3 years; immunosuppressive treatment; heart disease with low risk of bacterial endocarditis (interventricular defect and systolic murmur). Objective examination revealed a dental formula compatible with his age, of a decided green colour (above all the permanent dentition) with numerous caries lesions on the posterior deciduous teeth. In agreeing the treatment plan with the cardiologist (treatment of caries and sealing the fissures and cracks in the permanent first molars) it was decided that antibiotic prophylaxis was not required since such conservative treatment is not at risk for bacterial endocarditis. The patient returned 15 min after the end of the second session with marked swelling of the right upper hemi-lip. Having excluded traumatic origin, a hypothesis was formulated of hypersensitivity to products used during the dental session, in particular talcum-coated gloves and latex rubber dam. The patient was referred immediately to the Dermatology Service, Sant'Orsola-Malpighi Polyclinic, for the appropriate dermatological tests (prick test and epicutaneous test) which confirmed the suspected diagnosis: urticaria from contact with latex materials. The clinical case described confirms the need for the dentist of an interdisciplinary approach in patients suffering from systemic diseases and/or syndromes. PMID:16224379

  2. Hepatopulmonary syndrome: an update.

    PubMed

    Macêdo, Liana Gonçalves de; Lopes, Edmundo Pessoa de Almeida

    2009-07-01

    Hepatopulmonary syndrome (HPS) is a clinical threesome composed of liver disease, intrapulmonary vascular dilatation (IPVD) and arterial gas abnormalities. Its occurrence has been described in up to 32% of cirrhotic candidates for liver transplantation. It also affects non-cirrhotic patients with portal hypertension. Its pathogenesis is not well defined, but an association of factors such as imbalance in the endothelin receptor response, pulmonary microvascular remodeling and genetic predisposition is thought to lead to IPVD. Diagnosis is based on imaging methods that identify these dilatations, such as contrast echocardiography or perfusion scintigraphy with 99mTc, as well as analysis of arterial gases to identify elevated alveolar-arterial differences in O2 or hypoxemia. There is no effective pharmacological treatment and complete resolution only occurs through liver transplantation. The importance of diagnosing HPS lies in prioritizing transplant candidates, since presence of HPS is associated with worse prognosis. The aim of this paper was to review the pathogenetic theories and current diagnostic criteria regarding HPS, and to critically analyze the prioritization of patients with HPS on the liver transplant waiting list. Searches were carried out in the Medline (Medical Literature Analysis and Retrieval System Online) via PubMed, Cochrane Library and Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) databases for articles published between January 2002 and December 2007 involving adults and written either in English or in Portuguese, using the term hepatopulmonary syndrome. The studies of greatest relevance were included in the review, along with text books and articles cited in references that were obtained through the review. PMID:20011928

  3. Churg-Strauss syndrome.

    PubMed

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Gallo, Andrea; Fusconi, Massimo; Ruoppolo, Giovanni; Altissimi, Giancarlo; De Vincentiis, Marco

    2015-04-01

    Churg-Strauss syndrome (CSS), alternatively known as eosinophilic granulomatosis with polyangiitis (EGPA), was first described in 1951 by Churg and Strauss as a rare disease characterized by disseminated necrotizing vasculitis with extravascular granulomas occurring exclusively among patients with asthma and tissue eosinophilia. EGPA is classified as a small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs) and the hypereosinophilic syndromes (HESs) in which vessel inflammation and eosinophilic proliferation are thought to contribute to organ damage. Although still considered an idiopathic condition, EGPA is classically considered a Th2-mediated disease. Emerging clinical observations provide compelling evidence that ANCAs are primarily and directly involved in the pathogenesis of AASVs, although recent evidence implicates B cells and the humoral response as further contributors to EGPA pathogenesis. EGPA has traditionally been described as evolving through a prodromic phase characterized by asthma and rhino-sinusitis, an eosinophilic phase marked by peripheral eosinophilia and organ involvement, and a vasculitic phase with clinical manifestations due to small-vessel vasculitis. The American College of Rheumatology defined the classification criteria to distinguish the different types of vasculitides and identified six criteria for EGPA. When four or more of these criteria are met, vasculitis can be classified as EGPA. The French Vasculitis Study Group has identified five prognostic factors that make up the so-called five-factor score (FFS). Patients without poor prognosis factors (FFS=0) have better survival rates than patients with poor prognosis factors (FFS?1). The treatment of patients with CSS must be tailored to individual patients according to the presence of poor prognostic factors. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab or mepolizumab seems to be a promising therapeutic alternative. PMID:25500434

  4. Genetics Home Reference: Cowden syndrome

    MedlinePLUS

    ... from regulating cell proliferation effectively, leading to uncontrolled cell division and the formation of hamartomas and cancerous tumors. ... understanding Cowden syndrome? autosomal ; autosomal dominant ; cancer ; cell ; ... colorectal ; dehydrogenase ; diagnosis ; disability ; DNA ; endometrium ; ...

  5. Genetics Home Reference: Partington syndrome

    MedlinePLUS

    ... normal ARX protein contains four regions where a protein building block (amino acid) called alanine is repeated multiple times. These stretches of alanines are known as polyalanine tracts. The most common mutation that causes Partington syndrome, a duplication of ...

  6. Genetics Home Reference: Feingold syndrome

    MedlinePLUS

    ... of this action, this protein is called a transcription factor. Mutations in the MYCN gene that cause ... micrognathia ; mutation ; nervous system ; prevalence ; protein ; syndactyly ; syndrome ; transcription ; transcription factor You may find definitions for these ...

  7. Genetics Home Reference: Gillespie syndrome

    MedlinePLUS

    ... this role, the PAX6 protein is called a transcription factor. Mutations in the PAX6 gene result in ... mutation ; nystagmus ; photophobia ; prevalence ; protein ; recessive ; sensitivity ; syndrome ; transcription ; transcription factor ; visual acuity You may find definitions ...

  8. Genetics Home Reference: Miller syndrome

    MedlinePLUS

    ... are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that ... inherited ; lower jaw ; micrognathia ; molecule ; palate ; pyrimidines ; recessive ; RNA ; syndactyly ; syndrome ; tissue You may find definitions for ...

  9. Genetics Home Reference: Arts syndrome

    MedlinePLUS

    ... are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that ... nerve ; peripheral ; peripheral neuropathy ; protein ; purines ; pyrimidines ; respiratory ; RNA ; sensorineural ; sensorineural hearing loss ; sex chromosomes ; symptom ; syndrome ...

  10. Genetics Home Reference: Trichohepatoenteric syndrome

    MedlinePLUS

    ... recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of ... failure to thrive ; gene ; immune system ; inherited ; messenger RNA ; mRNA ; parenteral nutrition ; prevalence ; protein ; recessive ; RNA ; syndrome ...

  11. Genetics Home Reference: Timothy syndrome

    MedlinePLUS

    ... to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes ... but not in others. Where can I find information about diagnosis or management of Timothy syndrome? These ...

  12. Genetics Home Reference: Sjögren syndrome

    MedlinePLUS

    ... condition may be triggered by something in the environment. In particular, viral or bacterial infections, which activate the immune system, may have the potential to encourage the development of Sjögren syndrome in susceptible individuals. The genetic ...

  13. Genetics Home Reference: Cohen syndrome

    MedlinePLUS

    ... disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in ... incidence ; inherited ; joint ; microcephaly ; muscle tone ; myopia ; nearsightedness ; neutropenia ; philtrum ; protein ; recessive ; syndrome ; tissue ; white blood cells ...

  14. Sudden Infant Death Syndrome (SIDS)

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications Sudden Infant Death Syndrome (SIDS): Condition Information Skip sharing on social ... Share this: Page Content SIDS is the sudden death of an infant younger than 1 year of ...

  15. Complex Regional Pain Syndrome (CPRS)

    MedlinePLUS

    ... is from a compressed nerve, such as with carpal tunnel syndrome, then surgery to release pressure on the nerve may be needed (e.g. carpal tunnel release). Discuss your treatment options with your ...

  16. Genetics Home Reference: Costeff syndrome

    MedlinePLUS

    ... The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. ... protein is involved in regulating the shape of mitochondria. OPA3 gene mutations that result in Costeff syndrome ...

  17. Polycystic Ovary Syndrome in Adolescence

    PubMed Central

    Buggs, Colleen; Rosenfield, Robert L.

    2012-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefore, identifying girls at risk for PCOS and implementing treatment early in the development of PCOS may be an effective means of preventing some of the long-term complications associated with this syndrome. This article reviews the definition, clinical features, diagnosis, and treatment of PCOS. PMID:16085166

  18. Genetics Home Reference: Fryns syndrome

    MedlinePLUS

    ... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Fryns syndrome On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed May ...

  19. The Hallermann-Streiff Syndrome

    ERIC Educational Resources Information Center

    Judge, C.; Chakanovskis, Johanna E.

    1971-01-01

    A mentally handicapped 12 year old boy with the features of Hallermann-Streiff syndrome (proportionate dwarfism, beaked nose, small mouth, dental abnormalities, severe visual handicap) is described. A review of the literature is also included. (CD)

  20. The Hallermann-Streiff Syndrome

    ERIC Educational Resources Information Center

    Nevin, N. C.; And Others

    1974-01-01

    Described are the physical and genetic factors in a case of Hallermann-Streiff Syndrome (characterized by dwarfism and other anomalies, with or without retardation) in an 11-year old severely physically and mentally handicapped Irish girl. (CL)

  1. Genetics Home Reference: FG syndrome

    MedlinePLUS

    ... also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching ... mutation ; obstruction ; prevalence ; protein ; recessive ; sex chromosomes ; syndrome ; testes ; tissue ; X-linked recessive You may find definitions ...

  2. Genetics Home Reference: CHARGE syndrome

    MedlinePLUS

    ... with an unusually small penis (micropenis) and undescended testes (cryptorchidism). External genitalia abnormalities are seen less often ... inherited ; micropenis ; mutation ; palate ; protein ; puberty ; stenosis ; syndrome ; testes You may find definitions for these and many ...

  3. Genetics Home Reference: Frasier syndrome

    MedlinePLUS

    ... the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations ... kidney ; nephropathy ; protein ; reproductive cells ; spectrum ; sperm ; syndrome ; testes ; tissue ; transcription ; transcription factor You may find definitions ...

  4. Genetics Home Reference: Kleefstra syndrome

    MedlinePLUS

    ... their shape. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off ( ... histone ; hypertelorism ; hypoplasia ; hypotonia ; inherit ; inheritance ; inherited ; macroglossia ; methyl ; methyltransferase ; microcephaly ; microdeletion syndrome ; molecule ; mosaic ; muscle tone ; ...

  5. Genetics Home Reference: Cardiofaciocutaneous syndrome

    MedlinePLUS

    ... Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. ... Where can I find information about diagnosis or management of cardiofaciocutaneous syndrome? These resources address the diagnosis ...

  6. Genetics Home Reference: Sézary syndrome

    MedlinePLUS

    ... of cutaneous T-cell lymphoma after mycosis fungoides, accounting for approximately 3 to 5 percent of cases ... Where can I find information about diagnosis or management of Sézary syndrome? These resources address the diagnosis ...

  7. Genetics Home Reference: Down syndrome

    MedlinePLUS

    ... with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ ... cognition ; digestive ; disability ; egg ; esophagus ; gastroesophageal reflux ; gluten ; hypothyroidism ; hypotonia ; inherit ; inherited ; intestine ; leukemia ; mosaic ; muscle tone ; ...

  8. Genetics Home Reference: Marfan syndrome

    MedlinePLUS

    ... the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. Many people ... Dissection MedlinePlus Encyclopedia: Marfan Syndrome MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm National Marfan Foundation: Diagnosis You might also find ...

  9. Marfan's Syndrome: Detection and Management.

    ERIC Educational Resources Information Center

    Cantwell, John D.

    1986-01-01

    Marfan's Syndrome, a disorder of connective tissue, has gained increased attention since the death of volleyball star Flo Hyman. This article reviews the disease and discusses methods of detection and management. (Author/MT)

  10. Genetics Home Reference: Angelman syndrome

    MedlinePLUS

    ... 000 to 20,000 people. What are the genetic changes related to Angelman syndrome? Many of the ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  11. Genetics Home Reference: Alagille syndrome

    MedlinePLUS

    ... develop liver disease during infancy. What are the genetic changes related to Alagille syndrome? In more than ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  12. Genetics Home Reference: Blau syndrome

    MedlinePLUS

    ... inherited version of the disorder called early-onset sarcoidosis. Where can I find information about diagnosis or ... Genetic Testing Registry: Blau syndrome Genetic Testing Registry: Sarcoidosis, early-onset Merck Manual Consumer Version: Overview of ...

  13. The Distribution of Down's Syndrome.

    ERIC Educational Resources Information Center

    Read, S. G.

    1982-01-01

    Studies on the incidence of Down's Syndrome are reviewed and the increased occurrence in young mothers is noted. Possible causes are considered, with the strongest possibility ascribed to effects of contraceptive hormones and environmental toxins. (CL)

  14. Genetics Home Reference: Noonan syndrome

    MedlinePLUS

    ... bruising, nosebleeds, or prolonged bleeding following injury or surgery. Women with a bleeding disorder typically have excessive bleeding during menstruation (menorrhagia) or childbirth. Adolescent males with Noonan syndrome typically experience delayed puberty. ...

  15. Sleep and Irritable Bowel Syndrome

    MedlinePLUS

    ... of IBS Who We Are Contact Us Donate Sleep and Irritable Bowel Syndrome Sleep difficulties are common ... More: Treating Pain in IBS How to improve sleep While there are a variety of medications that ...

  16. Porcine Reproductive and Respiratory Syndrome 

    E-print Network

    Lawhorn, D. Bruce

    2001-07-25

    Porcine reproductive and respiratory syndrome (PRRS) is becoming one of the most economically significant diseases of swine. It causes weak, stillborn and mummified pigs, and sometimes losses of entire litters. This publication describes the disease...

  17. Genetics Home Reference: Wolfram syndrome

    MedlinePLUS

    ... carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have ... who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, ...

  18. Fragile X Syndrome: Other FAQs

    MedlinePLUS

    ... D. A. (2005). Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine, 7 , 584–587. [top] ... Pinterest YouTube Mobile RSS NIH...Turning Discovery Into Health ® Printed from the NICHD Web Site

  19. Genetics Home Reference: Stormorken syndrome

    MedlinePLUS

    ... affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of ... cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. ...

  20. Genetics Home Reference: Antiphospholipid syndrome

    MedlinePLUS

    ... reduced amount of blood clotting cells called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due ... phospholipid ; placenta ; platelets ; population ; prevalence ; sign ; sporadic ; syndrome ; thrombocytopenia ; thrombophilia ; thrombosis You may find definitions for these ...

  1. Iatrogenesis, frailty, and geriatric syndromes.

    PubMed

    Mitty, Ethel

    2010-01-01

    Older adults are at risk for iatrogenesis, especially if they are frail and have 1 or more geriatric syndromes. Iatrogenic events do not occur only in acute care; in nursing homes they affect 65% of residents annually. It is therefore likely that they are occurring in assisted living communities, though perhaps called by another name. Most commonly, iatrogenesis is an adverse drug event or reaction. Knowing more about the characteristics of frailty and the contributing factors to geriatric syndrome(s), assisted living nurses can be better prepared to monitor, detect, describe, and communicate an iatrogenic event or outcome. This article describes the signs and symptoms of atypical presentation of illness that can mask or are associated with iatrogenesis. Evidence-based assessment instruments are suggested for each geriatric syndrome. PMID:20832910

  2. Genetics Home Reference: Crouzonodermoskeletal syndrome

    MedlinePLUS

    ... that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper ... craniosynostosis ; gene ; inherited ; mutation ; pigmentation ; protein ; skin pigmentation ; strabismus ; syndrome ; tissue ; upper jaw ; x-rays You may ...

  3. Genetic heterogeneity in Usher syndrome.

    PubMed

    Keats, Bronya J B; Savas, Sevtap

    2004-09-15

    Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin. Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types. The shaker-1, waltzer, Ames waltzer, and Jackson shaker mice provide murine models for four of the genetic forms of Usher syndrome. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. PMID:15368488

  4. Genetics Home Reference: Gilbert syndrome

    MedlinePLUS

    ... mutation that changes a single protein building block (amino acid) in the bilirubin-UGT enzyme. This type of ... What glossary definitions help with understanding Gilbert syndrome? amino acid ; autosomal ; autosomal dominant ; autosomal recessive ; benign ; bilirubin ; cell ; ...

  5. Genetics Home Reference: Leigh syndrome

    MedlinePLUS

    ... Genes Chromosomes Handbook Glossary Resources Leigh syndrome Mitochondrial DNA Related Gene(s) Related Condition(s) References Quick links to ... genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, ...

  6. Gitelman's syndrome with mental retardation.

    PubMed

    Morita, Rena; Takeuchi, Kaoru; Nakamura, Akinobu; Tajima, Toshihiro; Kuroda, Yoshihiko

    2006-01-01

    A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS). We examined the thiazide-sensitive Na-Cl cotransporter (TSC) gene for the mutations that can be responsible for Gitelman's syndrome, and confirmed the diagnosis. After potassium and magnesium supplementation, her paralysis improved dramatically. The marriage of her parents was consanguineous. She had nine siblings (all with mental retardation), among whom five had died of unknown causes during childhood. Familial mental retardation has never been detected before in Gitelman's syndrome. Here we report a rare case of Gitelman's syndrome with familial mental retardation. PMID:16543691

  7. Colonic perforation in Behcet's syndrome.

    PubMed

    Dowling, Catherine-M; Hill, Arnold-Dk; Malone, Carmel; Sheehan, John-J; Tormey, Shona; Sheahan, Kieran; McDermott, Enda; O'Higgins, Niall-J

    2008-11-14

    A 17-year-old gentleman was admitted to our hospital for headache, the differential diagnosis of which included Behcet's syndrome (BS). He developed an acute abdomen and was found to have air under the diaphragm on erect chest X-ray. Subsequent laparotomy revealed multiple perforations throughout the colon. This report describes an unusual complication of Behcets syndrome occurring at the time of presentation and a review of the current literature of reported cases. PMID:19030217

  8. Central dazzle. A thalamic syndrome?

    PubMed

    Cummings, J L; Gittinger, J W

    1981-06-01

    A patient who experienced painless intolerance to light (dazzle) three months after a right posterior cerebral artery occlusion was shown by computerized tomography to have right occipital and right thalamic infarctions. His symptoms improved with amitriptyline hydrochloride and perphenazine therapy. The sensitivity to light, delayed onset, response to therapy, and presence of a thalamic lesion are analogous to the thalamic pain syndrome and suggest that central dazzle is a variant of the thalamic syndrome. PMID:7236068

  9. Inherited Bone Marrow Failure Syndromes

    Cancer.gov

    Inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of aplastic anemia (failure of the bone marrow to produce blood), associated with a family history of the same disorder. Some of these conditions have typical changes in physical appearance or in laboratory findings which suggest a specific diagnosis. There are several well-described syndromes, which can be recognized by health care experts.

  10. Neurologic manifestations of Angelman syndrome.

    PubMed

    Thibert, Ronald L; Larson, Anna M; Hsieh, David T; Raby, Annabel R; Thiele, Elizabeth A

    2013-04-01

    Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched ? and rhythmic ? activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome. PMID:23498559

  11. Progeroid syndromes are heritable human disorders with featuresthatsuggestprematureageing1

    E-print Network

    Monnat, Ray

    are Werner syndrome (WS), Hutchinson­Gilford progeria syndrome (HGPS), Cockayne syndrome, ataxia­Gilford progeria syndromes: mechanistic basis of human progeroid diseases Brian A. Kudlow*¶ , Brian K. Kennedy

  12. Ellis-Van Creveld Syndrome By Gabriel Washington

    E-print Network

    Brutlag, Doug

    dysplasia Six-fingered Dwarfism #12;Ellis-Van Creveld Syndrome Chrondroectodermal dysplasia Six-fingered Dwarfism #12;Ellis-Van Creveld Syndrome #12;Ellis-Van Creveld Syndrome #12;Ellis-Van Creveld Syndrome #12

  13. Laugier-Hunziker syndrome - Case report*

    PubMed Central

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome. PMID:26312723

  14. Velo-Cardio-Facial Syndrome: 30 Years of Study

    ERIC Educational Resources Information Center

    Shprintzen, Robert J.

    2008-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlackova syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an…

  15. Colorectal cancer risk in hamartomatous polyposis syndromes

    PubMed Central

    Campos, Fábio Guilherme; Figueiredo, Marleny Novaes; Martinez, Carlos Augusto Real

    2015-01-01

    Colorectal cancer (CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome (Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers (articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as “hamartomatous polyposis syndromes”, “Peutz-Jeghers syndrome”, “juvenile polyposis syndrome”, “juvenile polyp”, and “PTEN hamartoma tumour syndrome” (Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented. PMID:25848489

  16. Radiation-induced moyamoya syndrome

    SciTech Connect

    Desai, Snehal S.; Paulino, Arnold C. . E-mail: apaulino@tmh.tmc.edu; Mai, Wei Y.; Teh, Bin S.

    2006-07-15

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

  17. Black hairy tongue syndrome

    PubMed Central

    Gurvits, Grigoriy E; Tan, Amy

    2014-01-01

    Black hairy tongue (BHT) is a benign medical condition characterized by elongated filiform lingual papillae with typical carpet-like appearance of the dorsum of the tongue. Its prevalence varies geographically, typically ranging from 0.6% to 11.3%. Known predisposing factors include smoking, excessive coffee/black tea consumption, poor oral hygiene, trigeminal neuralgia, general debilitation, xerostomia, and medication use. Clinical presentation varies but is typically asymptomatic, although aesthetic concerns are common. Differential diagnosis includes pseudo-BHT, acanthosis nigricans, oral hairy leukoplakia, pigmented fungiform papillae of the tongue, and congenital melanocytic/melanotic nevi/macules. Clinical diagnosis relies on visual observation, detailed history taking, and occasionally microscopic evaluation. Treatment involves identification and discontinuation of the offending agent, modifications of chronic predisposing factors, patient’s re-assurance to the benign nature of the condition, and maintenance of adequate oral hygiene with gentle debridement to promote desquamation. Complications of BHT (burning mouth syndrome, halitosis, nausea, gagging, dysgeusia) typically respond to therapy. Prognosis is excellent with treatment of underlying medical conditions. BHT remains an important medical condition which may result in additional burden on the patient and health care system and requires appropriate prevention, recognition and treatment. PMID:25152586

  18. Complex sleep apnea syndrome

    PubMed Central

    Wang, Juan; Wang, Yan; Feng, Jing; Chen, Bao-yuan; Cao, Jie

    2013-01-01

    Complex sleep apnea syndrome (CompSAS) is a distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. The mechanisms of why CompSAS occurs are not well understood, though we have a high loop gain theory that may help to explain it. It is still controversial regarding the prevalence and the clinical significance of CompSAS. Patients with CompSAS have clinical features similar to OSA, but they do exhibit breathing patterns like CSA. In most CompSAS cases, CSA events during initial CPAP titration are transient and they may disappear after continued CPAP use for 4~8 weeks or even longer. However, the poor initial experience of CompSAS patients with CPAP may not be avoided, and nonadherence with continued therapy may often result. Treatment options like adaptive servo-ventilation are available now that may rapidly resolve the disorder and relieve the symptoms of this disease with the potential of increasing early adherence to therapy. But these approaches are associated with more expensive and complicated devices. In this review, the definition, potential plausible mechanisms, clinical characteristics, and treatment approaches of CompSAS will be summarized. PMID:23861580

  19. Equine metabolic syndrome

    PubMed Central

    Morgan, R.; Keen, J.; McGowan, C.

    2015-01-01

    Laminitis is one of the most common and frustrating clinical presentations in equine practice. While the principles of treatment for laminitis have not changed for several decades, there have been some important paradigm shifts in our understanding of laminitis. Most importantly, it is essential to consider laminitis as a clinical sign of disease and not as a disease in its own right. Once this shift in thinking has occurred, it is logical to then question what disease caused the laminitis. More than 90 per cent of horses presented with laminitis as their primary clinical sign will have developed it as a consequence of endocrine disease; most commonly equine metabolic syndrome (EMS). Given the fact that many horses will have painful protracted and/or chronic recurrent disease, a good understanding of the predisposing factors and how to diagnose and manage them is crucial. Current evidence suggests that early diagnosis and effective management of EMS should be a key aim for practising veterinary surgeons to prevent the devastating consequences of laminitis. This review will focus on EMS, its diagnosis and management. PMID:26273009

  20. Ebolavirus and Haemorrhagic Syndrome

    PubMed Central

    Matua, Gerald A.; Van der Wal, Dirk M.; Locsin, Rozzano C.

    2015-01-01

    The Ebola virus is a highly virulent, single-stranded ribonucleic acid virus which affects both humans and apes and has fast become one of the world’s most feared pathogens. The virus induces acute fever and death, with haemorrhagic syndrome occurring in up to 90% of patients. The known species within the genus Ebolavirus are Bundibugyo, Sudan, Zaïre, Reston and Taï Forest. Although endemic in Africa, Ebola has caused worldwide anxiety due to media hype and concerns about its international spread, including through bioterrorism. The high fatality rate is attributed to unavailability of a standard treatment regimen or vaccine. The disease is frightening since it is characterised by rapid immune suppression and systemic inflammatory response, causing multi-organ and system failure, shock and often death. Currently, disease management is largely supportive, with containment efforts geared towards mitigating the spread of the virus. This review describes the classification, morphology, infective process, natural ecology, transmission, epidemic patterns, diagnosis, clinical features and immunology of Ebola, including management and epidemic containment strategies. PMID:26052448