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. Genetics Home Reference: Stickler syndrome

    MedlinePLUS

    ... Merck Manual Home Health Handbook: Detachment of the Retina Stickler Involved People: Clinical Characteristics & Diagnostic Criteria Stickler Involved People: Stickler Syndrome Recognition, Diagnosis, Treatment You might also find information on ...

  3. Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes

    PubMed Central

    Tran-Viet, Khanh-Nhat; Soler, Vincent; Quiette, Valencia; Powell, Caldwell; Yanovitch, Tammy; Metlapally, Ravikanth; Luo, Xiaoyan; Katsanis, Nicholas; Nading, Erica

    2013-01-01

    Purpose Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family variably diagnosed with either syndrome was screened for sequence variants in the COL2A1 and VCAN genes. Methods Genomic DNA samples derived from saliva were collected from all family members (six affected and four unaffected individuals). Complete sequencing of COL2A1 and VCAN was performed on two affected individuals. Direct sequencing of remaining family members was conducted if the discovered variants followed segregation. Results A base-pair substitution (c.258C>A) in exon 2 of COL2A1 cosegregated with familial disease status. This known mutation occurs in a highly conserved site that causes a premature stop codon (p.C86X). The mutation was not seen in 1,142 ethnically matched control DNA samples. Conclusions Premature stop codons in COL2A1 exon 2 lead to a Stickler syndrome type I ocular-only phenotype with few or no systemic manifestations. Mutation screening of COL2A1 exon 2 in families with autosomal dominant vitreoretinopathy is important for accurate clinical diagnosis. PMID:23592912

  4. 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

  5. A{sup -2} {yields} G transition at the 3{prime} acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

    SciTech Connect

    Williams, C.J.; Ganguly, A.; Considine, E. [Thomas Jefferson Univ., Philadelphia, PA (United States)] [and others] [Thomas Jefferson Univ., Philadelphia, PA (United States); and others

    1996-06-14

    Hereditary progressive arthro-ophthalmopathy, or {open_quotes}Stickler syndrome,{close_quotes} is an autosomal dominant osteochondrodysplasia characterized by a variety of ocular and skeletal anomalies which frequently lead to retinal detachment and precocious osteoarthritis. A variety of mutations in the COL2A1 gene have been identified in {open_quotes}Stickler{close_quotes} families; in most cases studied thus far, the consequence of mutation is the premature generation of a stop codon. We report here the characterization of a COL2A1 gene mutation in the original kindred described by Stickler et al. Conformational sensitive gel electrophoresis (CSGE) was used to screen for mutations in the entire COL2A1 gene in an affected member from the kindred. A prominent heteroduplex species was noted in the polymerase chain reaction (PCR) product from a region of the gene including exons 17 to 20. Direct sequencing of PCR-amplified genomic DNA resulted in the identification of a base substitution at the A{sup -2} position of the 3{prime} splice acceptor site of IVS17. Sequencing of DNA from affected and unaffected family members confirmed that the mutation segregated with the disease phenotype. Reverse transcriptase-PCR analysis of poly A+ RNA demonstrated that the mutant allele utilized a cryptic splice site in exon 18 of the gene, eliminating 16 bp at the start of exon 18. This frameshift eventually results in a premature termination codon. These findings are the first report of a splice site mutation in classical Stickler syndrome and they provide a satisfying historical context in which to view COL2A1 mutations in this dysplasia. 25 refs., 3 figs., 1 tab.

  6. Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family

    SciTech Connect

    Bonaventure, J.; Lasselin, C. [Hopital Necker, Paris (France); Toutain, A. [CHU Bretonneau, Tours (France)] [and others

    1994-09-01

    The Stickler syndrome is an arthro-ophthalmopathy which associates progressive myopia with vitreal degeneration and retinal detachment. Cleft palate, cranio-facial abnormalities, deafness and osteoarthritis are often associated symptoms. Genetic heterogeneity of this autosomal dominant disease was consistent with its large clinical variability. Linkage studies have provided evidence for cosegregation of the disease with COL2A1, the gene coding for type II collagen, in about 50% of the families. Four additional families are reported here. Linkage analyses by using a VNTR located in the 3{prime} region of the gene were achieved. In three families, positive lod scores were obtained with a cumulative maximal value of 3.5 at a recombination fraction of 0. In one of these families, single strand conformation analysis of 25 exons disclosed a new mutation in exon 42. Codon for glutamic acid at position a1-803 was converted into a stop codon. The mutation was detected in DNA samples from all the affected members of the family but not in the unaffected. This result confirms that most of the Stickler syndromes linked to COL2A1 are due to premature stop codons. In a second family, an abnormal SSCP pattern of exon 34 was detected in all the affected individuals. The mutation is likely to correspond to a splicing defect in the acceptor site of intron 33. In one family the disease did not segregate with the COL2A1 locus. Further linkage studies with intragenic dimorphic sites in the COL10A1 gene and highly polymorphic markers close to the COL9A1 locus indicated that this disorder did not result from defects in these two genes.

  7. The Marshall and Stickler syndromes: objective rejection of lumping

    Microsoft Academic Search

    S Aymé; M Preus

    1984-01-01

    To answer the question of whether nosological splitting of the Marshall and Stickler syndromes is justified at the phenotypic level, we surveyed published reports on the two syndromes and applied an objective method to determine this. A set of 18 patients with clinical description, photographs, and radiographs was used to tabulate a list of 53 signs. Cluster analysis using these

  8. Bilateral total hip arthroplasty in siblings with Stickler Syndrome.

    PubMed

    Banerjee, D; Anderson, J A; Taveras, N A; González Della Valle, A

    2007-01-01

    Stickler Syndrome is an infrequent autosomal dominant connective tissue disorder. The most prevalent mutation affects type II collagen gene and results in abnormalities in cartilage, vitreous and nucleus pulposus. Orthopaedic manifestations include joint hyper- mobility and pain with early development of secondary osteoarthritis. The condition has a predilection for the femoral head and patients usually present in their third to fourth decade with secondary hip arthritis. We report on two siblings with Stickler Syndrome who presented with hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasties (THA). The patients experienced pain relief and improved quality of life after surgery. PMID:19197843

  9. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

    PubMed Central

    Richards, Allan J; Fincham, Gregory S; McNinch, Annie; Hill, David; Poulson, Arabella V; Castle, Bruce; Lees, Melissa M; Moore, Anthony T; Scott, John D; Snead, Martin P

    2013-01-01

    Background Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar collagens types II and XI present in cartilage and vitreous. Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler syndrome). Recently, recessive mutations in the COL11A1 gene have been demonstrated to result in fibrochondrogenesis, a much more severe skeletal dysplasia, which is often lethal. Here we demonstrate that some mutations in COL11A1 are recessive, modified by alternative splicing and result in type 2 Stickler syndrome rather than fibrochondrogenesis. Methods Patients referred to the national Stickler syndrome diagnostic service for England, UK were assessed clinically and subsequently sequenced for mutations in COL11A1. Additional in silico and functional studies to assess the effect of sequence variants on pre-mRNA processing and collagen structure were performed. Results In three different families, heterozygous COL11A1 biallelic null, null/missense or silent/missense mutations, were found. They resulted in a recessive form of type 2 Stickler syndrome characterised by particularly profound hearing loss and are clinically distinct from the recessive types 4 and 5 variants of Stickler syndrome. One mutant allele in each family is capable of synthesising a normal ?1(XI) procollagen molecule, via variable pre-mRNA processing. Conclusion This new variant has important implications for molecular diagnosis and counselling families with type 2 Stickler syndrome. PMID:23922384

  10. LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

    PubMed

    Alzahrani, Fatema; Al Hazzaa, Selwa A; Tayeb, Hamsa; Alkuraya, Fowzan S

    2015-04-01

    Stickler syndrome (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and cleft palate as common features. In a family with an autosomal recessive SS that does not map to genes known to cause autosomal recessive forms of SS, we combined autozygome and exome analysis to identify a novel missense variant in LOXL3 as the likely candidate cause. LOXL3 cross-links collagen II and its morphants phenocopy the craniofacial defects characteristic of collagen XI deficiency. We propose LOXL3 as a novel candidate gene for autosomal recessive SS. PMID:25663169

  11. 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. [Univ. of Verona (Italy)

    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.

  12. Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report

    PubMed Central

    Al Kaissi, Ali; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

    2008-01-01

    Background The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Case presentation A 5-year-old boy from non-consanguineous family in Austria was born with features of Pierre-Robin association (cleft palate, micrognathia, and glossoptosis). Radiological examination at birth revealed coronal clefts of the vertebrae, platyspondyly, and flaring of the metaphyses of the long bones (features suggestive of the Weissenbacher-Zweymuller syndrome). Significant features of ectodermal dysplasia such as sparse hair, defective dentition, dysplastic nails, and deficient sweating associated with bouts of unexplained hyperthermia were present. These features not shared by Stickler syndrome, Wagner syndrome, or Weissenbacher – Zweymuller syndrome, all of which are conditions often confused with Marshall syndrome. Conclusion There is continuing debate over the clinical overlap and differential diagnosis of Marshall and Stickler syndromes. We compared similar disorders, such as Weissenbacher-Zweymuller, and Wagner syndromes, and conclude that our present patient manifests Marshall-Stickler overlap. Focussing on subtle facial and ectodermal features may detract from recognising the serious outcome of congenital vitreous/myopia anomaly. Retinal detachment with subsequent blindness is a major risk in our current patient. PMID:18950500

  13. Marshall-Stickler phenotype associated with von Willebrand disease

    SciTech Connect

    MacDonald, M.R.; Baker, K.S.; Schaefer, G.B. [Univ. of Nebraska Medical Center, Omaha, NE (United States)] [Univ. of Nebraska Medical Center, Omaha, NE (United States)

    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.

  14. COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia

    PubMed Central

    Goldstein, Orly; Guyon, Richard; Kukekova, Anna; Pearce-Kelling, Sue; Johnson, Jennifer; Aguirre, Gustavo D.; Acland, Gregory M.

    2010-01-01

    Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively. Affected dogs exhibit short-limbed dwarfism together with severe ocular defects, and this phenotype is inherited as an autosomal recessive trait in both breeds. The clinical and pathological appearance resembles human hereditary arthro-ophthalmopathies such as Stickler syndrome, or Marshall Syndrome, although these human disorders are usually dominant. Linkage studies in drd1-informative pedigrees mapped the locus to canine chromosome 24, and led to the identification of an insertional mutation in exon 1 of the gene COL9A3 that cosegregates with the disease. The drd2 locus was similarly mapped to canine chromosome 15 and shown to cosegregate with a 1,267 bp deletion mutation in the 5? end of COL9A2. Both mutations affect the COL3 domain of the respective gene. Northern analysis showed reduced RNA expression in affected retina compared to normal. These models offer potential for studies such as protein-protein interactions between different members of the collagen gene family; regulation and expression of these genes in retina and cartilage, and even opportunities for gene therapy. PMID:20686772

  15. INTRODUCTION Stickler syndrome affects approximately 1 in 10,000 individuals. It is characterized by joint pain, facial

    E-print Network

    Oakley, Jeremy

    by joint pain, facial abnormalities (eg. cleft lip and palate) and ocular abnormalities (eg. myopia participants) and Leiba 1996 focal or 360o circumferential laser treatment (22 participants). Participants to laser treatment for bilateral prophylaxis compared to the controls (RR: 0.28, 95% CI 0.04, 1.84, p=0

  16. Fanconi syndrome

    MedlinePLUS

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

  17. Aicardi Syndrome

    MedlinePLUS

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

  18. Isaac's Syndrome

    MedlinePLUS

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

  19. Tourette Syndrome

    MedlinePLUS

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

  20. Usher syndrome

    Microsoft Academic Search

    Birgit Lorenz; John Marshall

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

  1. Williams syndrome

    MedlinePLUS

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

  2. 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 ...

  3. Metabolic Syndrome

    MedlinePLUS

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

  4. Down Syndrome

    MedlinePLUS

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

  5. Dumping Syndrome

    MedlinePLUS

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

  6. 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 ...

  7. Metabolic Syndrome

    MedlinePLUS

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

  8. Marfan Syndrome

    MedlinePLUS

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

  9. Morquio syndrome

    MedlinePLUS

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

  10. Reye Syndrome

    MedlinePLUS

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

  11. Myelodysplastic Syndromes

    MedlinePLUS

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

  12. Down Syndrome

    MedlinePLUS

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

  13. 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," ...

  14. Tourette Syndrome

    MedlinePLUS

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

  15. Sotos Syndrome

    MedlinePLUS

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

  16. 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. ...

  17. 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 ...

  18. 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…

  19. Rowell syndrome

    PubMed Central

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

    2014-01-01

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

  20. Gorlin Syndrome

    PubMed Central

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

    2013-01-01

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

  1. Cushing syndrome

    MedlinePLUS

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

  2. Down Syndrome What causes Down syndrome?

    E-print Network

    Palmeri, Thomas

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

  3. Angelman syndrome

    MedlinePLUS

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

  4. Poland syndrome

    PubMed Central

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

    2014-01-01

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

  5. Winchester syndrome

    Microsoft Academic Search

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

    2001-01-01

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

  6. HELLP Syndrome

    MedlinePLUS

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

  7. [Cotard syndrome].

    PubMed

    Simovici, G; Bauer, A

    1996-01-01

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

  8. Bazex Syndrome*

    PubMed Central

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

    2013-01-01

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

  9. Turner syndrome

    MedlinePLUS

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

  10. Metabolic Syndrome

    MedlinePLUS

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

  11. [Hypereosinophilic syndrome].

    PubMed

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

    2005-12-01

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

  12. Syndromic Craniosynostosis

    PubMed Central

    Derderian, Christopher; Seaward, James

    2012-01-01

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

  13. CHARGE syndrome

    PubMed Central

    Blake, Kim D; Prasad, Chitra

    2006-01-01

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

  14. Goldenhar syndrome.

    PubMed

    Sharma, Neeraj; Passi, Sidhi

    2013-01-01

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

  15. Olmsted Syndrome

    PubMed Central

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

    2012-01-01

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

  16. Neuroacanthocytosis Syndromes

    PubMed Central

    2011-01-01

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

  17. Williams Syndrome What causes Williams syndrome?

    E-print Network

    Palmeri, Thomas

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

  18. Nephrotic Syndrome

    MedlinePLUS

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

  19. 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 ...

  20. Cushing Syndrome

    MedlinePLUS

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

  1. 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

  2. Cushing's Syndrome

    MedlinePLUS

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

  3. Thalassemia syndrome.

    PubMed

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

    2014-01-01

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

  4. Fahr's Syndrome

    MedlinePLUS

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

  5. Caplan syndrome

    MedlinePLUS

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

  6. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

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

  7. Aicardi syndrome

    MedlinePLUS

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

  8. Noonan syndrome

    MedlinePLUS

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

  9. 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 ...

  10. Asperger syndrome

    MedlinePLUS

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

  11. Asperger Syndrome

    MedlinePLUS

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

  12. Hurler syndrome

    MedlinePLUS

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

  13. Usher Syndrome

    MedlinePLUS

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

  14. Premenstrual syndrome

    MedlinePLUS

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

  15. [Netherton syndrome].

    PubMed

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

    2006-06-01

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

  16. Hyperventilation syndrome

    Microsoft Academic Search

    Richard E. Brashear

    1983-01-01

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

  17. Alagille syndrome.

    PubMed Central

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

    1997-01-01

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

  18. [Diencephalic syndrome].

    PubMed

    2012-01-01

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

  19. Chronic Fatigue Syndrome

    MedlinePLUS

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

  20. Williams Syndrome: Neuroimaging,

    E-print Network

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

  1. Tethered Spinal Cord Syndrome

    MedlinePLUS

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

  2. Central Pain Syndrome

    MedlinePLUS

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

  3. Craniofacial Syndrome Descriptions

    MedlinePLUS

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

  4. Down Syndrome (For Parents)

    MedlinePLUS

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

  5. 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 ...

  6. Tics and Tourette Syndrome

    MedlinePLUS

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

  7. Androgen insensitivity syndrome

    MedlinePLUS

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

  8. Hamartomatous polyposis syndromes

    Microsoft Academic Search

    Kevin M Zbuk; Charis Eng

    2007-01-01

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

  9. 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.

  10. Cardiorenal syndromes

    PubMed Central

    McCullough, Peter A; Ahmad, Aftab

    2011-01-01

    Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

  11. Crush syndrome.

    PubMed

    Gonzalez, Dario

    2005-01-01

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

  12. 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

  13. Microdeletion syndromes.

    PubMed

    Carvill, Gemma L; Mefford, Heather C

    2013-06-01

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

  14. Leopard syndrome

    Microsoft Academic Search

    Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola

    2008-01-01

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

  15. Wells syndrome

    PubMed Central

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

    2012-01-01

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

  16. Bloom syndrome.

    PubMed

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

    2014-07-01

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

  17. 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.…

  18. [Metabolic syndrome].

    PubMed

    Wirth, A; Rothenfelde, B

    1996-12-01

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

  19. Premenstrual syndrome

    Microsoft Academic Search

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

    2008-01-01

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

  20. 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 ...

  1. Metabolic Syndrome

    MedlinePLUS

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

  2. [Locomotive syndrome and metabolic syndrome].

    PubMed

    Fukushi, Jun-ichi; Iwamoto, Yukihide

    2014-10-01

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

  3. 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

  4. Why Metabolic Syndrome Matters

    MedlinePLUS

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

  5. PTEN hamartoma tumor syndromes

    Microsoft Academic Search

    Gideon M Blumenthal; Phillip A Dennis

    2008-01-01

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

  6. 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…

  7. Compartment syndrome.

    PubMed

    Weinmann, Michael

    2003-09-01

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

  8. Polycystic ovary syndrome: Syndrome XX?

    Microsoft Academic Search

    Susan Sam; Andrea Dunaif

    2003-01-01

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

  9. 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…

  10. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

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

  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. BRUGADA SYNDROME

    PubMed Central

    2014-01-01

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

  13. 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.

  14. 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. ...

  15. Hantavirus Pulmonary Syndrome

    MedlinePLUS

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

  16. Fragile X Syndrome Overview

    MedlinePLUS

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

  17. 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 ...

  18. 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 ...

  19. Polycystic Ovary Syndrome

    MedlinePLUS

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

  20. ADHD & Down Syndrome

    MedlinePLUS

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

  1. Cardiac Syndrome X

    MedlinePLUS

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

  2. Reye's Syndrome

    PubMed Central

    Trauner, Doris A.

    1984-01-01

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

  3. Gitelman syndrome

    Microsoft Academic Search

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

    2008-01-01

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

  4. LEOPARD syndrome.

    PubMed

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

    2012-07-01

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

  5. 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

  6. [Crush syndrome].

    PubMed

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

    2007-08-01

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

  7. Roberts syndrome

    PubMed Central

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

    2014-01-01

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

  8. Nutcracker syndrome.

    PubMed

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-11-01

    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

  9. 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

  10. 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

  11. Robinow syndrome

    PubMed Central

    Suresh, SS

    2008-01-01

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

  12. Olmsted syndrome.

    PubMed

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

    1999-01-01

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

  13. Behçet's syndrome.

    PubMed

    Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan

    2013-05-01

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

  14. Griscelli syndrome.

    PubMed

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

    2014-08-01

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

  15. Loeys-Dietz Syndrome

    MedlinePLUS

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

  16. Hyperinsulinism in Developmental Syndromes

    Microsoft Academic Search

    Ritika R. Kapoor; Chela James; Khalid Hussain

    2009-01-01

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

  17. Post-Polio Syndrome

    MedlinePLUS

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

  18. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

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

  19. Meckel syndrome.

    PubMed Central

    Salonen, R; Paavola, P

    1998-01-01

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

  20. Leopard syndrome

    PubMed Central

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

    2008-01-01

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

  1. Myhre syndrome.

    PubMed

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

    2014-06-01

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

  2. Bouveret syndrome.

    PubMed

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

    2013-09-01

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

  3. 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

  4. Rett Syndrome

    PubMed Central

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

    2012-01-01

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

  5. Antiphospholipid syndrome.

    PubMed

    George, Diane; Erkan, Doruk

    2009-01-01

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

  6. Prenatal Tests for Down Syndrome

    MedlinePLUS

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

  7. Ulnar tunnel syndrome.

    PubMed

    Chen, Shih-Heng; Tsai, Tsu-Min

    2014-03-01

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

  8. Cogan and Behcet syndromes.

    PubMed

    Singer, Ora

    2015-01-01

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

  9. Gorlin-goltz syndrome.

    PubMed

    Pandeshwar, Padma; Jayanthi, K; Mahesh, D

    2012-01-01

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

  10. Gorlin-Goltz Syndrome

    PubMed Central

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

    2012-01-01

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

  11. Ochoa syndrome: a spectrum of urofacial syndrome

    Microsoft Academic Search

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

    2010-01-01

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

  12. Fragile X Syndrome

    MedlinePLUS

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

  13. Chronic fatigue syndrome - resources

    MedlinePLUS

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

  14. Chronic fatigue syndrome

    MedlinePLUS

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

  15. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Calva, Daniel; Howe, James R.

    2009-01-01

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

  16. Chronic Fatigue Syndrome

    MedlinePLUS

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

  17. Irritable Bowel Syndrome

    MedlinePLUS

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

  18. Cardiopulmonary Syndromes (PDQ®)

    Cancer.gov

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

  19. 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- ...

  20. 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 ...

  1. Acute respiratory distress syndrome

    MedlinePLUS

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

  2. Hantavirus Pulmonary Syndrome

    MedlinePLUS

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

  3. Down Syndrome: Education

    MedlinePLUS

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

  4. Learning about Klinefelter Syndrome

    MedlinePLUS

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

  5. Learning about Velocardiofacial Syndrome

    MedlinePLUS

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

  6. 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 ...

  7. What Causes Down Syndrome?

    MedlinePLUS

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

  8. 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 ...

  9. Restless legs syndrome

    MedlinePLUS

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

  10. Zollinger-Ellison syndrome

    MedlinePLUS

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

  11. Autoimmune Lymphoproliferative Syndrome (ALPS)

    MedlinePLUS

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

  12. Fragile X syndrome

    MedlinePLUS

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

  13. Alport Syndrome Diagnosis

    MedlinePLUS

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

  14. Childhood Nephrotic Syndrome

    MedlinePLUS

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

  15. Complex regional pain syndrome

    MedlinePLUS

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

  16. Small Bowel Polyposis Syndromes

    Microsoft Academic Search

    Nadir Arber; Menachem Moshkowitz

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

  17. Williams Syndrome and Happiness.

    ERIC Educational Resources Information Center

    Levine, Karen; Wharton, Robert

    2000-01-01

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

  18. Hyperinsulinism in developmental syndromes.

    PubMed

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

    2009-01-01

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

  19. 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...

  20. Anaesthesia for Kartagener's syndrome.

    PubMed

    Reidy, J; Sischy, S; Barrow, V

    2000-12-01

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

  1. CANDLE Syndrome: A Recently Described Autoinflammatory Syndrome.

    PubMed

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

    2014-07-17

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

  2. [The Othello syndrome].

    PubMed

    Alarcon, R

    1980-12-01

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

  3. Fat embolism syndrome

    PubMed Central

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

    2013-01-01

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

  4. Behcet's Syndrome.

    PubMed

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

    2012-12-01

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

  5. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    PubMed Central

    Sarraf, Mohammad; Schrier, Robert W.

    2011-01-01

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

  6. 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

  7. Characterizing organic delusional syndrome.

    PubMed

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

    1991-08-01

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

  8. 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

  9. Down syndrome masked by Marfan syndrome in a neonate

    PubMed Central

    Eayrs, Katie; Shettihalli, Naveen; Adwani, Satish

    2013-01-01

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

  10. Genetics Home Reference: Lujan syndrome

    MedlinePLUS

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

  11. 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 ...

  12. Genetics Home Reference: Myhre syndrome

    MedlinePLUS

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

  13. Learning about Antiphospholipid Syndrome (APS)

    MedlinePLUS

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

  14. Genetics Home Reference: Poland syndrome

    MedlinePLUS

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

  15. Alzheimer's Disease and Down Syndrome

    MedlinePLUS

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

  16. Genetics Home Reference: Job syndrome

    MedlinePLUS

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

  17. Inherited Bone Marrow Failure Syndromes

    MedlinePLUS

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

  18. First Trimester Down Syndrome Screen

    MedlinePLUS

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

  19. Cubital tunnel syndrome

    PubMed Central

    Cutts, Steven

    2007-01-01

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

  20. Nephrotic syndrome redux.

    PubMed

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

    2015-01-01

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

  1. Paraneoplastic Visual Syndromes

    Microsoft Academic Search

    Anitha Raghunath; Jade S. Schiffman

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

  2. Sturge–Weber syndrome

    Microsoft Academic Search

    C. Di Rocco; G. Tamburrini

    2006-01-01

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

  3. The ectopic ACTH syndrome

    Microsoft Academic Search

    Krystallenia I. Alexandraki; Ashley B. Grossman

    2010-01-01

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

  4. Joint hypermobility syndrome pain

    Microsoft Academic Search

    Rodney Grahame

    2009-01-01

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

  5. Acute nephritic syndrome

    MedlinePLUS

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

  6. [The Capgras syndrome].

    PubMed

    Anikina, M A; Levin, O S

    2013-01-01

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

  7. Cushing's syndrome in pregnancy.

    PubMed

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

    2015-02-01

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

  8. Laugier–Hunziker syndrome

    PubMed Central

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

    2012-01-01

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

  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. Cyclic Vomiting Syndrome Association

    MedlinePLUS

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

  11. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

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

  12. Genetics Home Reference: Moebius syndrome

    MedlinePLUS

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

  13. 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…

  14. Cauda equina syndrome

    Microsoft Academic Search

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

    2001-01-01

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

  15. Gammahydroxybutyrate withdrawal syndrome

    Microsoft Academic Search

    Jo Ellen Dyer; Brett Roth; Bruce A. Hyma

    2001-01-01

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

  16. Cubital tunnel syndrome

    Microsoft Academic Search

    Steven Cutts

    2007-01-01

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

  17. Tourette Syndrome (For Parents)

    MedlinePLUS

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

  18. The Othello Syndrome

    PubMed Central

    Famuyiwa, Oluwole O.; Ekpo, Micheal

    1983-01-01

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

  19. The Othello syndrome.

    PubMed

    Famuyiwa, O O; Ekpo, M

    1983-02-01

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

  20. Sirenomelia: the mermaid syndrome

    Microsoft Academic Search

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

    1996-01-01

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

  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. Autoimmune polyendocrine syndromes.

    PubMed

    Cutolo, Maurizio

    2014-02-01

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

  3. Polycystic Ovary Syndrome

    MedlinePLUS

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

  4. White-Nose Syndrome

    NSDL National Science Digital Library

    Douglas Stemke (University of Indianapolis; )

    2011-04-28

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

  5. Turner Syndrome: Other FAQs

    MedlinePLUS

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

  6. What Causes Cushing's Syndrome?

    MedlinePLUS

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

  7. Lymphedema in Noonan's syndrome.

    PubMed

    White, S W

    1984-12-01

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

  8. 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

  9. Hypereosinophilic Syndrome (HES)

    MedlinePLUS

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

  10. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)

    Microsoft Academic Search

    B D Coppin; I K Temple

    1997-01-01

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

  11. [The refeeding syndrome].

    PubMed

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

    2015-01-01

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

  12. Gorlin-Goltz Syndrome

    PubMed Central

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

    2014-01-01

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

  13. Gorlin-goltz syndrome.

    PubMed

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

    2014-03-01

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

  14. 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

  15. Abdominal obesity and metabolic syndrome

    Microsoft Academic Search

    Jean-Pierre Després; Isabelle Lemieux

    2006-01-01

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

  16. 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…

  17. [Hyperimmunoglobulin D syndrome].

    PubMed

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

    1995-09-16

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

  18. 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

  19. Anton's syndrome and eugenics.

    PubMed

    Kondziella, Daniel; Frahm-Falkenberg, Siska

    2011-06-01

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

  20. Bouveret's Syndrome: diagnostic considerations

    SciTech Connect

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

    1987-07-10

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

  1. Syndrome In Question*

    PubMed Central

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

    2015-01-01

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

  2. Post-Concussion Syndrome

    Microsoft Academic Search

    Grant L. Iverson; Rael T. Lange

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

  3. 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

  4. Melkersson-rosenthal syndrome.

    PubMed

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

    1999-10-01

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

  5. Postinfluenza toxic shock syndrome.

    PubMed

    Prechter, G C; Gerhard, A K

    1989-05-01

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

  6. Anton's Syndrome and Eugenics

    PubMed Central

    Frahm-Falkenberg, Siska

    2011-01-01

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

  7. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

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

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

    E-print Network

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

  9. Thoracic outlet syndrome

    MedlinePLUS

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

  10. Cri du chat syndrome

    MedlinePLUS

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

  11. 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...

  12. Chronic Fatigue Syndrome

    MedlinePLUS

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

  13. Ectopic Cushing syndrome

    MedlinePLUS

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

  14. Cushing syndrome - exogenous

    MedlinePLUS

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

  15. After Reye's Syndrome

    MedlinePLUS

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

  16. The obesity hypoventilation syndrome.

    PubMed

    Powers, Mark Anthony

    2008-12-01

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

  17. Nephrotic Syndrome in Adults

    MedlinePLUS

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

  18. Frey's syndrome: case report.

    PubMed

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

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

  19. Fragile X Syndrome

    MedlinePLUS

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

  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. National Down Syndrome Society

    MedlinePLUS

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

  2. Learning about WAGR Syndrome

    MedlinePLUS

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

  3. 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 ...

  4. 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 ...

  5. Narcotic Bowel Syndrome

    MedlinePLUS

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

  6. Fetal Alcohol Syndrome

    MedlinePLUS

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

  7. Crigler-Najjar syndrome

    MedlinePLUS

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

  8. Polycystic Ovary Syndrome (PCOS)

    MedlinePLUS

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

  9. Aging and Down Syndrome

    MedlinePLUS

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

  10. Pregnancy Complications: HELLP Syndrome

    MedlinePLUS

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

  11. Acute sarcoidosis: Löfgren's syndrome.

    PubMed

    Kirresh, Othman; Schofield, John; George, Gerald

    2015-03-01

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

  12. Polycystic Ovary Syndrome

    MedlinePLUS

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

  13. 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 ...

  14. Learning about Turner Syndrome

    MedlinePLUS

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

  15. Dumping syndrome (image)

    MedlinePLUS

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

  16. Klippel-Trenaunay syndrome

    MedlinePLUS

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

  17. Sudden Infant Death Syndrome

    MedlinePLUS

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

  18. Obesity hypoventilation syndrome (OHS)

    MedlinePLUS

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

  19. Heart and Down Syndrome

    MedlinePLUS

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

  20. The white dot syndromes.

    PubMed

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

    2007-01-01

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

  1. CREST syndrome (image)

    MedlinePLUS

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

  2. Zollinger-Ellison Syndrome

    MedlinePLUS

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

  3. Acute Radiation Syndrome

    MedlinePLUS

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

  4. Thoracic Outlet Syndrome

    MedlinePLUS

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

  5. Living with Marfan Syndrome

    MedlinePLUS

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

  6. Gorlin-Goltz syndrome.

    PubMed

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

    2012-01-01

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

  7. Gorlin-Goltz syndrome

    PubMed Central

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

    2012-01-01

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

  8. Muir-Torre Syndrome

    MedlinePLUS

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

  9. The acrocallosal syndrome

    Microsoft Academic Search

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

    1988-01-01

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

  10. The Metabolic Syndrome

    Microsoft Academic Search

    Scott M. Grundy

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

  11. Paraneoplastic neurological syndromes

    Microsoft Academic Search

    Jérôme Honnorat; Jean-Christophe Antoine

    2007-01-01

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

  12. Acrocallosal syndrome: new findings.

    PubMed

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

    1989-03-01

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

  13. Temperament in Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  14. Williams-Beuren Syndrome

    Microsoft Academic Search

    Stephen W. Scherer; Lucy R. Osborne

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

  15. Shah-Waardenburg Syndrome

    PubMed Central

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

    2013-01-01

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

  16. Celiac Artery Compression Syndrome

    PubMed Central

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

    2013-01-01

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

  17. Gorlin-Goltz syndrome

    PubMed Central

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

    2009-01-01

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

  18. Gorlin-Goltz syndrome.

    PubMed

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

    2009-07-01

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

  19. Gorlin-Goltz syndrome.

    PubMed

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

    2010-01-01

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

  20. Gorlin-Goltz syndrome

    PubMed Central

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

    2010-01-01

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

  1. Pain syndromes in children

    Microsoft Academic Search

    David D. Sherry

    2000-01-01

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

  2. 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

  3. Microdeletion 3q syndrome.

    PubMed

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

    2011-11-01

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

  4. [Chronic exertional compartment syndrome].

    PubMed

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

    2013-10-01

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

  5. 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 • ...

  6. Genetics Home Reference: Rabson-Mendenhall syndrome

    MedlinePLUS

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

  7. 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 ...

  8. The pickwickian syndrome-obesity hypoventilation syndrome.

    PubMed

    Littleton, Stephen W; Mokhlesi, Babak

    2009-09-01

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

  9. Marfan syndrome: An eyesight of syndrome?

    PubMed Central

    Kumar, Ashok; Agarwal, Sarita

    2014-01-01

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

  10. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

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

  11. Plant defense syndromes.

    PubMed

    Agrawal, Anurag A; Fishbein, Mark

    2006-07-01

    Given that a plant's defensive strategy against herbivory is never likely to be a single trait, we develop the concept of plant defense syndromes, where association with specific ecological interactions can result in convergence on suites of covarying defensive traits. Defense syndromes can be studied within communities of diverse plant species as well as within clades of closely related species. In either case, theory predicts that plant defense traits can consistently covary across species, due to shared evolutionary ancestry or due to adaptive convergence. We examined potential defense syndromes in 24 species of milkweeds (Asclepias spp.) in a field experiment. Employing phylogenetically independent contrasts, we found few correlations between seven defensive traits, no bivariate trade-offs, and notable positive correlations between trichome density and latex production, and between C:N ratio and leaf toughness. We then used a hierarchical cluster analysis to produce a phenogram of defense trait similarity among the 24 species. This analysis revealed three distinct clusters of species. The defense syndromes of these species clusters are associated with either low nutritional quality or a balance of higher nutritional quality coupled with physical or chemical defenses. The phenogram based on defense traits was not congruent, however, with a molecular phylogeny of the group, suggesting convergence on defense syndromes. Finally, we examined the performance of monarch butterfly caterpillars on the 24 milkweed species in the field; monarch growth and survival did not differ on plants in the three syndromes, although multiple regression revealed that leaf trichomes and toughness significantly reduced caterpillar growth. The discovery of convergent plant defense syndromes can be used as a framework to ask questions about how abiotic environments, communities of herbivores, and biogeography are associated with particular defense strategies of plants. PMID:16922309

  12. One of the Rarest Syndromes in Dentistry: Gardner Syndrome

    PubMed Central

    Basaran, Guvenc; Erkan, Mustafa

    2008-01-01

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

  13. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

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

  14. 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…

  15. Genetics Home Reference: Partington syndrome

    MedlinePLUS

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

  16. Wolff-Parkinson-White syndrome

    MedlinePLUS

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

  17. Chronic Fatigue Syndrome (CFS): Diagnosis

    MedlinePLUS

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

  18. Toxic Shock Syndrome (For Parents)

    MedlinePLUS

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

  19. ARDS (Acute Respiratory Distress Syndrome)

    MedlinePLUS

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

  20. Genetics Home Reference: Knobloch syndrome

    MedlinePLUS

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

  1. Fragile X Syndrome: Other FAQs

    MedlinePLUS

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

  2. Families and Fragile X Syndrome

    MedlinePLUS

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

  3. Middle East Respiratory Syndrome (MERS)

    MedlinePLUS

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

  4. 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. ...

  5. Syndromic Disorders with Short Stature

    PubMed Central

    ??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

  6. Genetics Home Reference: Apert syndrome

    MedlinePLUS

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

  7. Genetics Home Reference: Asperger syndrome

    MedlinePLUS

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

  8. Genetics Home Reference: Emanuel syndrome

    MedlinePLUS

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

  9. 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 ...

  10. 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 ...

  11. Genetics Home Reference: Kleefstra syndrome

    MedlinePLUS

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

  12. 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 ...

  13. Treatment Options for Myelodysplastic Syndromes

    MedlinePLUS

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

  14. 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 ...

  15. Genetics Home Reference: Gilbert syndrome

    MedlinePLUS

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

  16. Complex Regional Pain Syndrome (CPRS)

    MedlinePLUS

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

  17. Genetics Home Reference: GRACILE syndrome

    MedlinePLUS

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

  18. Genetics Home Reference: Sotos syndrome

    MedlinePLUS

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

  19. Genetics Home Reference: Weaver syndrome

    MedlinePLUS

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

  20. Kabuki syndrome revisited.

    PubMed

    Bokinni, Yemisi

    2012-04-01

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

  1. Fat embolism syndrome

    PubMed Central

    Richards, Robin R.

    1997-01-01

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

  2. Reye syndrome: an international perspective.

    PubMed

    Stumpf, D A

    1995-01-01

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

  3. Down Syndrome Is for Life.

    ERIC Educational Resources Information Center

    Stratford, Brian

    1994-01-01

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

  4. 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)

  5. 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…

  6. Paraneoplastic syndromes in prostate cancer

    Microsoft Academic Search

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

    2010-01-01

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

  7. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

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

  8. 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…

  9. CHARGE Syndrome: An Educators' Primer

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  10. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

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

  11. Metabolic syndrome and asthma.

    PubMed

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

    2014-01-01

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

  12. The Antiphospholipid Syndrome

    PubMed Central

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

    2012-01-01

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

  13. [White dot syndrome].

    PubMed

    Göbel, W

    2008-01-01

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

  14. Shwachman's syndrome and leukaemia.

    PubMed

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

    1979-12-01

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

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

    PubMed

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

    2013-01-01

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

  16. 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

  17. 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

  18. 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

  19. [A zoocentric Capgras syndrome].

    PubMed

    Ehrt, U

    1999-01-01

    Capgras syndrome is a delusional misidentification, a phenomenon where a person believes delusionally that another person (in most cases closely related) has been replaced by a double or impostor of identical appearance. It is usually a symptom of a functional psychosis but sometimes it is also associated with organic cerebral dysfunction. We present a case of a 23-year old women who had the delusional belief that her cat had been replaced by the cat of her former boy-friend. Reviewing the literature we found that such a case is very rare. The association between Capgras syndrome and depersonalisation-derealisation phenomena is also pointed out. PMID:10087577

  20. Graham-Little syndrome.

    PubMed

    Zegarska, B; Kallas, D; Schwartz, R A; Czajkowski, R; Uchanska, G; Placek, W

    2010-10-01

    Graham-Little syndrome, also know as Graham-Little-Piccardi-Lassueur syndrome, is an unusual form of lichen planopilaris, characterized by the presence of cicatricial alopecia on the scalp, keratosis pilaris of the trunk and extremities, and non-cicatricial hair loss of the pubis and axillae. We present the case of a 47-year-old woman whose condition was unusual in that there was a prominence of scalp findings. Her treatment included a topical steroid plus systemic prednisone beginning at 30 mg every morning, which rendered her skin smooth, but did not alter her scalp lopecia. PMID:20976421

  1. Cornelia de lange syndrome

    PubMed Central

    Tayebi, Naeimeh

    2008-01-01

    BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS. CONCLUSION: This is the first case report with CDLS in Iran. PMID:20300288

  2. Abdominal compartment syndrome

    Microsoft Academic Search

    Jeffrey Bailey; Marc J Shapiro

    2000-01-01

    Intra-abdominal hypertension (IAH) associated with organ dysfunction\\u0009\\u0009\\u0009 defines the abdominal compartment syndrome (ACS). Elevated intra-abdominal\\u0009\\u0009\\u0009 pressure (IAP) adversely impacts pulmonary, cardiovascular, renal, splanchnic,\\u0009\\u0009\\u0009 musculoskeletal\\/integumentary, and central nervous system physiology. The\\u0009\\u0009\\u0009 combination of IAH and disordered physiology results in a clinical syndrome\\u0009\\u0009\\u0009 with significant morbidity and mortality. The onset of the ACS requires prompt\\u0009\\u0009\\u0009 recognition and appropriately timed and staged intervention

  3. 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

  4. The telomere syndromes.

    PubMed

    Armanios, Mary; Blackburn, Elizabeth H

    2012-10-01

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

  5. 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

  6. Hypocomplementemic Urticarial Vasculitis Syndrome

    PubMed Central

    Christensen, Jim; McCarty, Morgan

    2012-01-01

    Hypocomplementemic urticarial vasculitis syndrome, as opposed to urticarial vasculitis or urticarial vasculitis syndrome, is a rare disease process where the exact pathophysiology remains unknown. This article discusses the case of a 34-year-old Hispanic man with an ongoing history of chronic urticaria comprising episodes induced by low ambient temperatures, emotional stress, and spontaneous occurrences. This article serves as a consolidated reference for specialists to comprehensively review the plethora of systemic manifestations that may accompany urticarial vasculitis and highlights new systemic complications reported in association with this disease which are also observed in this case. PMID:22328958

  7. Call-Fleming syndrome

    PubMed Central

    Skandhan, Avni Kalangott Padmanabhan; Ramakrishnan, Kollengode Gopalakrishnan; Anand, Rajeev

    2013-01-01

    Call–Fleming syndrome is a part of reversible cerebral vasoconstriction syndrome (RCVS) group and is thought to be of idiopathic origin. It is classically described to be having multisegmental, focal vasospasms in the cerebral arteries. It is characterized clinically by the sudden onset of severe headache, classically described as thunderclap headache, with or without associated neurological deficits. The importance of it lies in that it is a potentially reversible cause of this clinical presentation, unlike its other counterparts, aneurysmal subarachnoid hemorrhage (SAH) or vasculitis. PMID:24347846

  8. Idiopathic chondrolysis of the hip.

    PubMed

    Donnan, L; Einoder, B

    1996-08-01

    A case of idiopathic chondrolysis of the hip is described in a 12 year old female who has the characteristics of arthroophthalmopathy (Stickler's syndrome). This common connective tissue dysplasia may go unrecognized and is possibly an aetiological factor in the development of this disease process. A review of the literature is presented. PMID:8712998

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

    Microsoft Academic Search

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

    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 experiments assessed number skills in these two genetic syndromes and in their mental age (MA)

  10. 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,…

  11. Cushing syndrome: update on testing.

    PubMed

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. PMID:25732641

  12. Extracolonic Manifestations of Lynch Syndrome

    PubMed Central

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolonic malignancies and alternative genetic pathways gives new insight into the true prevalence and penetrance of Lynch syndrome. PMID:23730225

  13. 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

  14. Currarino syndrome and spinal dysraphism.

    PubMed

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

    2014-06-01

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

  15. 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…

  16. Postthrombotic Syndrome in Children

    Microsoft Academic Search

    Marilyn J. Manco-Johnson

    2006-01-01

    The postthrombotic syndrome (PTS) is a clinical condition of limb pain along with physical findings that range from swelling to stasis ulcers following one or more episodes of deep vein thrombosis (DVT). While venous thromboembolism has recently gained increased recognition in children, the sequelae of limb thrombi are being recognized in a substantial proportion of affected children, and with varying

  17. 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 ...

  18. 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

  19. Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) is an important disease of soybean in North and South America. SDS first occurred in South America in the early 1990s. In the U.S.A., SDS was first detected in AK in 1971. Now SDS occurs in most soybean production areas of the U.S. The SDS pathogen is a soil-borne fungu...

  20. 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…

  1. The moulded baby syndrome

    Microsoft Academic Search

    R. A. Buxton

    2001-01-01

    In the moulded baby syndrome a generalized ‘skeletal skew’ occurs, as a result of intra-uterine pressure or postnatal positioning of the infant. Plagiocephaly, wry neck, scoliosis, pelvic obliquity and postural foot deformities may occur separately or together and resolve spontaneously by the age of 3. Pelvic obliquity gives rise to an alteration in the inclination of the legs with an

  2. Ramsay Hunt syndrome

    Microsoft Academic Search

    C J Sweeney; D H Gilden

    2001-01-01

    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

  3. Kraepelin-fraud syndrome.

    PubMed

    Kraepelin, Emil; Freud, Sigmund; Healy, David

    2009-04-01

    Emil Kraepelin (1856-1926) and Sigmund Freud (1856-1936) here (via mysterious mediumistic mechanisms) describe a syndrome, which probably emerged in the 1950s, and can now readily be observed at medical conferences. At its core, the syndrome is comprised of extreme abilities to compartmentalise information of the type found in scientific conferences, an episodic preoccupation with the surface of a science but inability to appreciate its substance (episodic logosagnosia) and a mood state that is heavily dependent on gratification from the range of outlets available at modern conferences. Current estimates of the frequency of the condition are that there are approximately 20 full-blown psychopharmacological carriers of the syndrome per 100 million populations. This should yield a figure of 200 in Europe and North America. If a similar phenomenon applies in other branches of medicine this would yield a further 1200 affected individuals in Western medical circles. It is of pressing interest to establish whether the Kraepelin-Fraud Syndrome exists to any degree in non-medical science, and whether there are differences between those sciences with and without significant commercial applications. PMID:19201547

  4. Rabson-mendenhall syndrome.

    PubMed

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

    2014-11-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans. PMID:25484423

  5. Bone cement implantation syndrome

    Microsoft Academic Search

    W. R. Lamadé; W. Friedl; B. Schmid; P. J. Meeder

    1995-01-01

    Bone cement implantation syndrome (BCIS) is characterised by hypotension, hypoxaemia, cardiac arrhythmias, cardiac arrest or any combination of these, leading to death in 0.6–1% of patients. One of the mechanisms suggested to explain these complications is diffuse microembolisation of the lungs as a consequence of extrusion of the bone marrow content by the pressurised bone cement. By reducing intramedullary pressure

  6. Cubital tunnel syndrome

    Microsoft Academic Search

    Andrew S. Rokito; Patrick J. Iviciviahon; Frank W. Jobe

    1996-01-01

    The tremendous forces generated by the upper extremity during throwing places the athlete at risk for developingvalgus tension injuries to the medial aspect of the elbow. Cubital tunnel syndrome, or ulnar neuritis, represents one component of a spectrum of medial elbow pathology that can affect the throwing athlete. This article reviews the pertinent anatomy, pathophysiology, clinical presentation, and surgical treatment

  7. Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)

    Microsoft Academic Search

    Sergiusz Jó?wiak; Ignacio Pascual-Castroviejo

    Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a rare, congenital, neurocutaneous disorder. It is characterized\\u000a by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations.\\u000a Mental retardation and epilepsy may compromise the clinical status.

  8. Fowler's syndrome and pregnancy

    Microsoft Academic Search

    A T Khan; R B Kinder; R G Hayman

    2010-01-01

    We present a favourable outcome of a pregnant woman with underlying Fowler's syndrome. This is a rare disorder affecting young women with painless urinary retention, and as there is no known cure, the main concern is to ensure adequate bladder emptying. Our patient went through self-catheterisation and suprapubic catheters after which she was finally successfully managed on a sacral nerve

  9. Orofacial digital syndrome.

    PubMed

    Dave, Kajal V; Patel, Shilpa C; Dudhia, Bhavin B; Panja, Pritam

    2013-01-01

    A case of a 10-year-old boy reported to us for delayed eruption of permanent teeth with classical features of orofacial digital syndrome (OFDS). The case of OFDS is being reported and the various clinico-radiological features of both type I and type II are compared. Chromosomal karyotyping of the case has also been performed. PMID:23852247

  10. 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…

  11. Postural orthostatic tachycardia syndrome

    Microsoft Academic Search

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

    2007-01-01

    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.

  12. 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…

  13. Rothmund-Thomson syndrome

    Microsoft Academic Search

    Lidia Larizza; Gaia Roversi; Ludovica Volpi

    2010-01-01

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

  14. Hepatopulmonary syndrome: an update

    Microsoft Academic Search

    Liana Gonçalves de Macêdo; Edmundo Pessoa de Almeida Lopes

    2009-01-01

    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

  15. Rubinstein–Taybi syndrome

    Microsoft Academic Search

    Raoul C M Hennekam; RCM Hennekam

    2006-01-01

    In this review a short overview of pertinent clinical and molecular data of the Rubinstein–Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.

  16. 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…

  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. 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…

  19. Congenital long QT syndrome

    Microsoft Academic Search

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

    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,

  20. Atypical Charles Bonnet Syndrome

    PubMed Central

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-01-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision. PMID:24379505

  1. with Kabuki Syndrome

    E-print Network

    Korean J Ophthalmol; Poor Stereoacuity Associated; Nam Gil Kim; Hyon J. Kim; Jeong-min Hwang

    Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with

  2. Mounier-Kuhn Syndrome

    PubMed Central

    Celik, Burcin; Bilgin, Salih; Yuksel, Canan

    2011-01-01

    Mounier-Kuhn syndrome, or tracheobronchomegaly, is a rare clinical and radiologic condition characterized by marked tracheobronchial dilation and recurrent lower respiratory tract infections. Diagnosis is typically accomplished with the use of computed tomography and bronchoscopy, as well as pulmonary function testing. Patients may be asymptomatic; however, symptoms can range from minimal with preserved lung function to severe respiratory failure. Therapy, if any, is supportive but minimal. Surgery rarely has a place in the treatment of Mounier-Kuhn syndrome. Herein, we report the case of a 58-year-old man with chronic obstructive pulmonary disease who had a chronic cough, increased sputum production, and chest pain. Thoracic computed tomography showed tracheal dilation (diameter, 34 mm) and multiple diverticula in the posterior region of the trachea. Fiberoptic bronchoscopy revealed enlarged main bronchi, the dilated trachea, and prominent tracheal diverticula. Pulmonary function testing disclosed impaired respiratory function. Histopathologic examination of biopsy specimens from the bronchi and the tracheal wall supported the diagnosis of Mounier-Kuhn syndrome. The patient was released from the hospital and his condition was monitored for 2 years, during which time he developed no lower respiratory tract infections. Regardless of radiologic findings that suggest recurrent lower respiratory tract infection, we recommend that Mounier-Kuhn syndrome be considered in the differential diagnosis. PMID:21494536

  3. Sheldon-Hall syndrome.

    PubMed

    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. Recurrent Corneal Erosion Syndrome

    Microsoft Academic Search

    Sujata Das; Berthold Seitz

    2008-01-01

    Recurrent corneal erosion syndrome is a chronic relapsing disease of the corneal epithelium characterized by repeated episodes of sudden onset of pain usually at night or upon first awakening, accompanied by redness, photophobia, and watering of the eyes. Individual episodes may vary in severity and duration. These symptoms are related to corneal deepithelialization in an area in which the epithelium

  5. Wolfram (DIDMOAD) syndrome

    Microsoft Academic Search

    T G Barrett; S E Bundey

    1997-01-01

    Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and

  6. Central Cord Syndrome

    MedlinePLUS

    ... syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands ... STANDUP (782-6387) Fax: 305-243-6017 National Spinal Cord Injury Association 75-20 Astoria Blvd Suite 120 East ...

  7. [The CREST syndrome].

    PubMed

    Koch, B; Rödl, W

    1988-05-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. PMID:3393644

  8. What Is Sjögren's Syndrome?

    MedlinePLUS

    ... publication. To order the Sjögren's Syndrome Q&A full-text version, please contact NIAMS using the contact information ... mailed to you? Visit our online order form. Full NIAMS Site NIH… Turning Discovery Into Health ® ... Comments Moderation Policy Site Map | Viewers and Players

  9. Sjögren-Larsson Syndrome

    Microsoft Academic Search

    Ursel Theile

    1974-01-01

    Since 1957 Sjögren and Larsson have published 28 cases of a new entity: ichthyosis, oligophrenia and di- or tetraspastic disorder a lot of cases have been reported from all over the world. Until now there are 111 cases, on which the diagnosis of Sjögren Larsson syndrome can be made certainly. Half the patients present speech defects, a third alterations of

  10. Eyes in arhinencephalic syndromes.

    PubMed Central

    Karseras, A G; Laurence, K M

    1975-01-01

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

  11. Paraneoplastic neurological syndromes

    PubMed Central

    Graus, Francesc; Dalmau, Josep

    2013-01-01

    Purpose of review This review describes relevant advances in paraneoplastic neurological syndromes (PNS) with emphasis on particular syndromes and the impact of antibodies against surface antigens in their management. Recent findings PNS may present with symptoms that do not raise the suspicion of a paraneoplastic origin. The best example is anti-N-methyl-D-aspartate receptor encephalitis that in adult women frequently associates with ovarian teratoma. An electroencephalogram pattern described as ‘extreme delta brush’ was recently identified in 30% of patients with this disorder. Isolated myelopathy may have a paraneoplastic origin associated with amphiphysin or CV2 (CRMP5) antibodies. Jaw dystonia and laryngospasm can be the predominant symptom of the brainstem encephalitis associated with Ri antibodies. ?-Aminobutyric acid (GABA)B receptor antibodies are the most common antibodies found in patients with limbic encephalitis and small cell lung cancer, and contactin-associated protein 2 antibodies in patients with Morvan’s syndrome and thymoma. Lastly, a recent study identified delta/notch-like epidermal growth factor-related receptor (DNER) as the target antigen of Tr antibodies, a marker of cerebellar ataxia and Hodgkin’s lymphoma. Summary The number of antibodies relevant to PNS is now expanded to those against surface antigens. These antibodies do not confirm the paraneoplastic origin of the syndrome but predict a better response to immunotherapy. PMID:23041955

  12. 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. It may happen ... move the affected body part The cause of CRPS is unknown. There is no specific diagnostic test. ...

  13. Hereditary Renal Cancer Syndromes

    PubMed Central

    Haas, Naomi B.

    2013-01-01

    Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of renal cancer, which are reviewed herein. Clear cell renal cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome and mutations in BAP1, as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary renal cancers arise in conjunction with germline mutations in MET and type 2 as part of Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations). Chromophone and oncocytic renal cancers are predominantly associated with Birt Hogg Dubé syndrome. Angiomyolipomas are commonly and their malignant counterpart epitheliod angiomyolipomas rarely are found in patients with Tuberous Sclerosis Complex. The targeted therapeutic options for the renal cancer associated with these diseases are just starting to expand, and are an area of active clinical research. PMID:24359990

  14. 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)

  15. `Little Leopard' Syndrome

    PubMed Central

    Pickering, Douglas; Laski, Bernard; MacMillan, D. C.; Rose, Vera

    1971-01-01

    Three cases of the `Little Leopard' syndrome are described; its features are short stature, lentigines, electrocardiographic and ocular defects, pulmonary infundibular stenosis, abnormal genitalia, mental retardation, and deafness. The published material is reviewed, and the cardiac and electrocardiographic abnormalities are described in detail. ImagesFIG. 1FIG. 2p87-aFIG. 3 PMID:4995347

  16. Annotation: The savant syndrome

    Microsoft Academic Search

    Pamela Heaton; Gregory L. Wallace

    2004-01-01

    Background: Whilst interest has focused on the origin and nature of the savant syndrome for over a century, it is only within the past two decades that empirical group studies have been carried out. Methods: The following annotation briefly reviews relevant research and also attempts to address outstanding issues in this research area. Traditionally, savants have been defined as intellectually

  17. Annotation: The Savant Syndrome

    ERIC Educational Resources Information Center

    Heaton, Pamela; Wallace, Gregory L.

    2004-01-01

    Background: Whilst interest has focused on the origin and nature of the savant syndrome for over a century, it is only within the past two decades that empirical group studies have been carried out. Methods: The following annotation briefly reviews relevant research and also attempts to address outstanding issues in this research area.…

  18. Toxic shock syndrome.

    PubMed

    Maya, M; Harwood, A L

    1982-02-01

    Three cases of toxic shock syndrome are presented. All exhibited hypotension and involvement of three or more organ systems. Staphylococcus aureus was isolated in all cases. All patients recovered without sequelae. The etiology, clinical features, differential diagnosis, therapy, and preventive measures are discussed. PMID:7137693

  19. Genetics Home Reference: Shprintzen-Goldberg syndrome

    MedlinePLUS

    ... of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur ... and usually more severe in Marfan syndrome and Loeys-Dietz syndrome. Read more about Marfan syndrome and Loeys-Dietz ...

  20. 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

  1. Drug treatment of metabolic syndrome.

    PubMed

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome. PMID:22950955

  2. [Syndromes 21: Ellis-Van Creveld syndrome].

    PubMed

    Baart, J A; van Hagen, J M

    2000-06-01

    Patients with the Ellis-Van Creveld syndrome have a short stature. The extremities are often plump and markedly shortened, progressively from the trunk to the fingers and the toes. A bilateral postaxial sixth finger is frequent. The most striking and consistent finding in the mouth is fusion of the middle part of the upper lip to the labial sulcus, resulting in a so-called 'whistling deformity'. Congenitally missing teeth, particularly in the frontal region, are a constant finding too. Teeth are usually small and have conical crowns. Supernummer teeth have also been noted. The oral and maxillofacial surgeon will treat the hypertrophic upper frenulum; the dentist will treat the oligodontia of the frontal region and the conical crowns by means of laminated veneers and etch composite bridgework. PMID:11385805

  3. [Nephrotic syndrome in a female patient with Rapunzel syndrome].

    PubMed

    2014-01-01

    The Rapunzel syndrome is a rare complication of gastric trichobezoar, which may be long insidious. Systemic hair eating gradually leads to bezoar growth, gastritis, gastric mucosal ulcerations, and evacuatory disorders. The Rapunzel syndrome may cause acute and chronic bowel obstruction, peritonitis, pancreatitis, appendicitis, anemia, hypoalbuminemia, and allergic manifestations. Neither proteinuria nor nephrotic syndrome is depicted in any of the 38 Rapunzel syndrome cases described in the literature. The authors present the first case of gastric trichobezoar extending to the small bowel (its total length was 118 cm), which gave rise to chronic recurrent partial bowel obstruction, causing intoxication nephrotic syndrome in a 20-year-old women with trichotillomania. The nephrotic syndrome became a reason for her admission to a nephrology department and had specific features: it was unaccompanied by hypercholesterolemia, it rapidly regressed and completely disappeared after surgical removal of the trichobezoar weighing 1980 g. PMID:25804045

  4. 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

  5. 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

  6. Multiple pilomatricomas in Kabuki syndrome.

    PubMed

    Hamahata, Atsumori; Kamei, Wataru; Ishikawa, Masashi; Konoeda, Hisato; Yamaki, Takashi; Sakurai, Hiroyuki

    2013-01-01

    Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28-year-old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several reports describe multiple pilomatricomas associated with Turner syndrome, there are no reports of multiple pilomatricomas combined with Kabuki syndrome. Ectodermal abnormalities such as hair abnormality and hirsutism are symptoms of Kabuki syndrome, and pilomatricomas are frequently associated with the mutations of beta-catenin in hair follicle development. The predisposition of pilomatricomas may be not merely a coincidental finding, but an added association with Kabuki syndrome. PMID:22304445

  7. Postthrombotic Syndrome: Surgical Possibilities

    PubMed Central

    Khanna, Ajay K.; Singh, Shivanshu

    2012-01-01

    Postthrombotic syndrome (PTS) is a late outcome of deep vein thrombosis characterized by cramping pain, swelling, hyperpigmentation, eczema, lipodermatosclerosis, and ulceration in the leg due to increased venous outflow resistance and reflux venous flow. Newer surgical and endovascular interventions have a promising result in the management of postthrombotic syndrome. Early surgical or endovascular interventions in appropriately selected patients may decrease the incidence of recurrent ulceration and skin changes and provide a better quality of life. Duplex and IVUS (intravenous ultrasound) along with venography serve as cornerstone investigative tools for assessment of reflux and obstruction. Venous obstruction, if present, should be addressed earlier than reflux. It requires endovenous stenting, endophlebectomy, or open bypass procedures. Venous stripping, foam sclerotherapy, radiofrequency, or laser ablation are used to abolish superficial venous reflux. Valvuloplasty procedures are useful for incompetent but intact deep venous valves, while transposition or axillary vein autotransplantation is done for completely destroyed valves. PMID:22084674

  8. Delleman Oorthuys Syndrome

    PubMed Central

    Rizvi, Syed Wajahat A.; Siddiqui, Mohammed Azfar; Khan, Adeeb A.; Siddiqui, Ziya

    2015-01-01

    Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management. PMID:25624688

  9. Elejalde syndrome (ES).

    PubMed

    Mohammadzadeh Shanehsaz, Siavash; Rezazadeh, Azadeh; Dandashli, Anwar

    2015-01-01

    Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation. PMID:25780981

  10. [Greater trochanteric pain syndrome].

    PubMed

    Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M

    2014-01-01

    Greater trochanteric pain is one of the common complaints in orthopedics. Frequent diagnoses include myofascial pain, trochanteric bursitis, tendinosis and rupture of the gluteus medius and minimus tendon, and external snapping hip. Furthermore, nerve entrapment like the piriformis syndrome must be considered in the differential diagnosis. This article summarizes essential diagnostic and therapeutic steps in greater trochanteric pain syndrome. Careful clinical evaluation, complemented with specific imaging studies and diagnostic infiltrations allows determination of the underlying pathology in most cases. Thereafter, specific nonsurgical treatment is indicated, with success rates of more than 90?%. Resistant cases and tendon ruptures may require surgical intervention, which can provide significant pain relief and functional improvement in most cases. PMID:24414233

  11. Delleman oorthuys syndrome.

    PubMed

    Rizvi, Syed Wajahat A; Siddiqui, Mohammed Azfar; Khan, Adeeb A; Siddiqui, Ziya

    2015-01-01

    Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management. PMID:25624688

  12. [Treatment of tardive syndromes].

    PubMed

    Horváth, Krisztina; Aschermann, Zsuzsanna; Komoly, Sámuel; Kovács, Attila; Kovács, Norbert

    2014-01-01

    Tardive syndromes associated with dopamine-receptor blocking agents have heterogeneous appearance. The treatment of tardive dyskinesia, dystonia, myoclonus, tourettism, tremor and akathisia is challenging for both psychiatrists and neurologists. Lack of randomized and controlled examinations for many routinely applied clinical therapeutic options make the development of clinical guidelines difficult. The present review article summarizes the available evidence for the treatment of tardive syndromes. According to the treatment guideline published by the American Academy of Neurology in 2013, the usage of clonazepam, ginkgo biloba, amantadine and tetrabenazine has enough evidence to draw conclusions. Although lowering or stopping the eliciting agent, changing to atypical antipsychotics, and adding anticholinergics are widely used techniques, there are no convincing controlled studies available to support their efficacy. The usage of Vitamin E, levetiracetam, propranolol, botulinum toxin and deep brain stimulation may be promising treatment options in the future. PMID:25041749

  13. Juvenile polyposis syndrome

    PubMed Central

    Cichy, Wojciech; Klincewicz, Beata

    2014-01-01

    Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

  14. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium. PMID:24666534

  15. [POPP syndrome: Psoriatic onychopachydermoperiostitis].

    PubMed

    Romiti, Ricardo; Santos, Denise; Carvalho, Jozélio; Arnone, Marcelo; Takahashi, Maria Denise F

    2013-01-01

    Psoriatic onychopachydermoperiostitis (POPP) syndrome characterizes a clinical variant of psoriatic arthritis originally described by Fournie et al in 1989. Both great toes are generally affected presenting with nail changes, painful swelling of the soft tissue close to the distal phalanx as well as specific radiologic changes such as periosteal reaction and bone erosions of the distal phalanges. Joint involvement is characteristically absent and classic psoriatic lesions may be associated. Painful symptoms may lead to severe functional and quality of life impairment. Traditional systemic treatment is generally frustrating. Here we report a female patient presenting POPP syndrome refractory to traditional systemic treatments and adalimumab, further presenting a favorable response to treatment with etanercept. PMID:24021366

  16. 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

  17. Celiac artery compression syndrome.

    PubMed

    Kokotsakis, J N; Lambidis, C D; Lioulias, A G; Skouteli, E T; Bastounis, E A; Livesay, J J

    2000-04-01

    Celiac artery compression syndrome occurs when the median arcuate ligament of the diaphragm causes extrinsic compression of the celiac trunk. We report a case of a 65-year-old woman who presented with a three-month history of postprandial abdominal pain, nausea and some emesis, without weight loss. There was a bruit in the upper mid-epigastrium and the lateral aortic arteriography revealed a significant stenosis of the celiac artery. At operation, the celiac axis was found to be severely compressed anteriorly by fibers forming the inferior margin of the arcuate ligament of the diaphragm. The ligament was cut and a vein by-pass from the supraceliac aorta to the distal celiac artery was performed. The patient remains well and free of symptoms two and a half years since operation.In this report we discuss the indications and the therapeutic options of this syndrome as well as a review of the literature is being given. PMID:10799832

  18. Juvenile polyposis syndrome.

    PubMed

    Cichy, Wojciech; Klincewicz, Beata; Plawski, Andrzej

    2014-06-29

    Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor ? pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis. PMID:25097590

  19. The idiopathic hypereosinophilic syndrome.

    PubMed Central

    Alfaham, M A; Ferguson, S D; Sihra, B; Davies, J

    1987-01-01

    A 14 year old girl with idiopathic hypereosinophilic syndrome is described. In addition to weight loss, anaemia, amenorrhoea, general lethargy, anorexia, mouth ulcers, blisters of hands and feet, and petechial skin rash, she had features of involvement of the cardiovascular system as the major complication. She responded well to treatment. After a comprehensive search of the published reports 18 cases of this syndrome were identified in children under 16 years. Fifteen of these children had involvement of the cardiovascular system as the major source of their morbidity and mortality. Summary of the clinical details and laboratory, biopsy, and necropsy findings of the involvement of the various organ systems of the 18 children is presented. PMID:3619478

  20. Pain syndromes in children.

    PubMed

    Sherry, D D

    2000-08-01

    The pediatric rheumatologist cares for children who may have a wide variety of causes of musculoskeletal pain. These include such diverse conditions as arthritis, low-back pain, hypermobility, metabolic bone pain, and amplified pain syndromes such as complex regional pain syndrome and fibromyalgia. This review examines the recent literature on these and other conditions causing musculoskeletal pain in children and adolescents. Overall, headway is being made, but differentiating soma from psyche remains a problem. This is perhaps due to the marked and unique effect pain brings to each of us. Children are different from adults in causes, presentations, and outcome. Vigilance in history, physical examination, and judicious use of laboratory investigations are usually sufficient in establishing a diagnosis, as well as an appreciation for the variety of presentations each condition can manifest. PMID:11123080

  1. Genetics Home Reference: Floating-Harbor syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Floating-Harbor syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed December 2012 What is Floating-Harbor syndrome? Floating-Harbor syndrome is a disorder ...

  2. Genetics Home Reference: Pallister-Hall syndrome

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Pallister-Hall syndrome On this page: Description Genetic changes Inheritance ... Glossary definitions Reviewed March 2006 What is Pallister-Hall syndrome? Pallister-Hall syndrome is a disorder that ...

  3. 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) ...

  4. Genetics Home Reference: SOX2 anophthalmia syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > SOX2 anophthalmia syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed March 2009 What is SOX2 anophthalmia syndrome? SOX2 anophthalmia syndrome is a rare ...

  5. 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 ...

  6. Fragile X Syndrome (FXS): Related Concerns

    MedlinePLUS

    ... Form Controls NCBDDD Cancel Submit Search The CDC Fragile X Syndrome (FXS) Note: Javascript is disabled or is ... message, please visit this page: About CDC.gov . Fragile X Syndrome Home Facts How Fragile X Syndrome is ...

  7. Fragile X Syndrome (FXS): Associated Disorders

    MedlinePLUS

    ... ovarian insufficiency Fragile X-associated tremor/ataxia syndrome Fragile X Syndrome (Full Mutation) Fragile X syndrome (FXS) is ... FMR1 gene. Learn more about FXS » Other Fragile X-Associated Disorders (Premutation) People who have other fragile ...

  8. Genetics Home Reference: Fragile X syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Fragile X syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed April 2012 What is fragile X syndrome? Fragile X syndrome is a genetic condition ...

  9. Genetics Home Reference: Familial cold autoinflammatory syndrome

    MedlinePLUS

    ... the disorder. Where can I find information about diagnosis or management of familial cold autoinflammatory syndrome? These ... people use for familial cold autoinflammatory syndrome? cold hypersensitivity familial cold-induced autoinflammatory syndrome familial cold urticaria ...

  10. 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 ...

  11. Genetics Home Reference: Jackson-Weiss syndrome

    MedlinePLUS

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

  12. 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 ...

  13. Genetics Home Reference: Otopalatodigital syndrome type 1

    MedlinePLUS

    ... OMIM Genetic disorder catalog Conditions > Otopalatodigital syndrome type 1 On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed November 2007 What is otopalatodigital syndrome type 1? Otopalatodigital syndrome type 1 is a disorder primarily ...

  14. Genetics Home Reference: Renal coloboma syndrome

    MedlinePLUS

    ... Testing Registry Genetic testing PubMed Recent literature Conditions > Renal coloboma syndrome On this page: Description Genetic changes ... names Glossary definitions Reviewed July 2008 What is renal coloboma syndrome? Renal coloboma syndrome (also known as ...

  15. Hemorrhagic Fever with Renal Syndrome (HFRS)

    MedlinePLUS

    ... page: About CDC.gov . Hantavirus Share Compartir Hemorrhagic Fever with Renal Syndrome (HFRS) On this Page What ... is HFRS prevented? Suggested Reading What is hemorrhagic fever with renal syndrome? Hemorrhagic fever with renal syndrome ( ...

  16. The Marfan Syndrome

    Microsoft Academic Search

    Amaresh Nath; Enid R. Neptune

    \\u000a Marfan syndrome (MFS), a multisystem disorder of connective tissue, was described more than a century ago. Ground-breaking\\u000a advances in the understanding of MFS were punctuated by the discovery of fibrillin, the identification of the FBN-1 as the\\u000a causative gene, and the dissection of molecular pathogenesis through the creative use of animal models. The role of TGFb signaling\\u000a in fibrillinopathies and

  17. Vascular Thoracic Outlet Syndrome

    Microsoft Academic Search

    Lazar B. Davidovic; Dusan M. Kostic; Nenad S. Jakovljevic; Ilija L. Kuzmanovic; Tijana M. Simic

    2003-01-01

      Abstract\\u000a \\u000a The surgical treatment of 30 cases of vascular thoracic outlet syndrome (TOS) in 25 patients is presented. Patients included\\u000a 17 women and 8 men with average age of 26.1 years. The causes of compression were cervical rib (n = 16), soft tissue anomalies (n = 12), and scar tissue after clavicle fracture (n = 2). Ten subclavian artery aneurysms

  18. Cushing's Syndrome and Bone

    Microsoft Academic Search

    Tatiana Mancini; Mauro Doga; Gherardo Mazziotti; Andrea Giustina

    2004-01-01

    Structural and functional impairment of skeletal system is a relevant cause of morbidity and disability in patients with Cushing's\\u000a syndrome (CS). Approximately 30–50% of patients with CS experience fractures (particularly at the spinal level) consistent\\u000a with the 50% incidence of osteoporosis. Growth failure, pubertal arrest are the hallmarks of CS in children and growing adolescents\\u000a leading to reduced final adult

  19. 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

  20. Cardiorenal versus Renocardiac Syndrome

    Microsoft Academic Search

    Mohammad Sarraf; Amirali Masoumi; Robert W. Schrier

    \\u000a Many national registries and epidemiological observations have revealed a strong correlation between morbidity and mortality\\u000a of patients with cardiovascular disease and kidney dysfunction. In patients with heart failure, renal dysfunction is highly\\u000a prevalent. Even mild to moderate renal dysfunction in patients with congestive heart failure, i.e., cardiorenal syndrome,\\u000a leads to significant increase in morbidity and mortality. The mechanisms underlying this

  1. Dyggve melchior clausen syndrome.

    PubMed

    Gupta, V; Kohli, A; Dewan, V

    2010-11-01

    Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported. PMID:21149903

  2. Complex regional pain syndrome

    Microsoft Academic Search

    Ok Yung Chung; Stephen P. Bruehl

    2003-01-01

    Opinion statement  Complex regional pain syndrome (CRPS) is a heterogeneous disorder that falls in the spectrum of neuropathic pain disorders.\\u000a It is maintained by abnormalities throughout the neuraxis (the peripheral, autonomic, and central nervous systems). The pathophysiology\\u000a of CRPS is not fully known. There are no scientifically well-established treatments. The diagnostic criteria for CRPS at this\\u000a time are purely clinical, and

  3. Complex regional pain syndromes

    Microsoft Academic Search

    Ralf Baron; Gunnar Wasner

    2001-01-01

    Complex regional pain syndromes (CRPS) (formerly reflex sympathetic dystrophy and causalgia) are neuropathic pain conditions\\u000a that are initiated by an extremity trauma or peripheral nerve lesion. Clinical definition and scientific understanding of\\u000a CRPS are still evolving; however, both the clinical picture and therapeutic options are significantly influenced by a dysfunction\\u000a of the sympathetic nervous system. Recent investigations suggest functional central

  4. Fragile X syndrome

    Microsoft Academic Search

    Kathryn B Garber; Jeannie Visootsak; Stephen T Warren

    2008-01-01

    Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5?-untranslated region. The FMR1 gene product, FMRP,

  5. Statins Provoking MELAS Syndrome

    Microsoft Academic Search

    Joseph E. Thomas; Nora Lee; Paul D. Thompson

    2007-01-01

    Background: Statins inhibit the production of 2,3-dimethoxy,5-methyl,6-polyisoprene parabenzoquinone also known as ubiquinone or coenzyme Q10 (CoQ10), which is required for mitochondrial electron transport. Idiopathic or primary CoQ10 deficiencies have been known to cause mitochondrial encephalomyopathy. Methods: We present the case of a patient with mitochondrial syndrome, consisting of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), whose symptoms were temporally

  6. Nelson's syndrome in pregnancy

    SciTech Connect

    Surrey, E.S.; Chang, R.J.

    1985-10-01

    The therapeutic considerations in the management of Nelson's syndrome in a 29 year old primigravida are described. CT scans revealed a 2-cm solid pituitary lesion with suprasellar extension and chiasmatic encroachment. A transsphenoidal hypophysectomy was performed to remove a eosinophilic pituitary adenoma. The patient's symptoms improved following surgery. Fetal growth was followed by ultrasound and a female infant was delivered by cesarean section. Follow-up CT scan 2 weeks after delivery revealed no evidence of tumor recurrence.

  7. 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

  8. Li–Fraumeni Syndrome

    Microsoft Academic Search

    David Malkin

    \\u000a In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni. Using a classical epidemiologic approach,\\u000a they retrospectively evaluated 280 medical charts and 418 death certificates of children diagnosed with rhabdomyosarcoma in\\u000a the United States from 1960 to 1964 [1,2]. Five families were identified in whom a second child had developed a soft tissue\\u000a sarcoma. In addition, a

  9. Hermansky–Pudlak Syndrome

    Microsoft Academic Search

    Lisa R. Young; William A. Gahl

    \\u000a Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by albinism and platelet dysfunction.\\u000a A subset of HPS patients also develop highly penetrant pulmonary fibrosis, and some patients have a granulomatous colitis\\u000a that shares features with Crohn’s disease. There are at least eight genetic loci associated with HPS in humans; mutations\\u000a in each HPS gene result in

  10. Niikawa-Kuroki syndrome.

    PubMed

    Roccella, M

    1999-01-01

    In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. However the first description of patients with this combination of anomalies dates back to 1981, when Niikawa and Kuroki described the main clinical signs which characterize the syndromic table. The size and weight deficit is progressive and it reveals itself during the first year of life. The features of the face are like the make-up of kabuki actors, the word from which the denomination comes. The mental retardation is of a slight degree; there is also a retardation in the acquisition of evolutive psychomotor stages. Speech is not very structured, it begins with the first syllables at about three years and remains poor with close, unclear and tied words. Other elements which define the syndrome are: the skeleton anomalies, dermatoglyphic anomalies, cardiological and renal anomalies. The aetiology is still unknown; it is thought that it may be X-linked or autosomal predominant transmission by new mutation. The genetic analysis has shown chromosomic anomalies only in a few cases. The rareness of the syndrome and the unmistakable clinical characteristics which make diagnosis possible leads to a description of three new case. All cases present a post-natal deficit of growth, psychomotor and/or mental retardation, autistic traits, dysmorphic facies, skeleton anomalies, partial epilepsy; two cases present cardiovascular defects. In one case the GH-dependent deficit of size has been corrected by hormonal treatment. PMID:10634060

  11. Rotational vertebral artery syndrome

    Microsoft Academic Search

    Sarah Marti; Stefan Hegemann; Hans-Christian von Büdingen; Ralf W. Baumgartner; Dominik Straumann

    2008-01-01

    Whether the rotational vertebral artery syndrome (RVAS), consisting of attacks of vertigo, nystagmus and tinnitus elicited\\u000a by head-rotation induced compression of the dominant vertebral artery (VA), reflects ischemic dysfunction of uni- or bilateral\\u000a peripheral or central vestibular structures, is still debated. We report on a patient with bilateral high-grade carotid stenoses,\\u000a in whom rightward headrotation led to RVAS symptoms including

  12. Smith–Magenis syndrome

    Microsoft Academic Search

    Sarah H Elsea; Santhosh Girirajan

    2008-01-01

    Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding and fluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, while multiplex ligation-dependent probe amplification (MLPA)

  13. [Richards-Rundle syndrome].

    PubMed

    Fehlow, P; Walther, F

    1991-01-01

    Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of Richards Rundle syndrome, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, deafness, ataxia, wasting of muscles and reduced jerks. In cases of hypogonadism and hypogenitalism should be searched for mental and neurologic disorders, also for genetic counseling of the siblings. PMID:1857055

  14. The Hereditary Syndromes

    Microsoft Academic Search

    Nicola Carlomagno; Luigi Pelosio; Akbar Jamshidi; Marius Yabi; Francesca Duraturo; Paola Izzo; Andrea Renda

    Within the ambit of multiple tumors, an important issue is that of already identified hereditary syndromes, a group of anatomical-clinical\\u000a entities that have been well distinguished and studied for years. Such diseases have a common etiopathogenetic mechanism,\\u000a mostly represented by a genetic mutation. It is easy to understand how a patient, who has in his or her genetic history a

  15. Gastrointestinal Polyposis Syndromes

    Microsoft Academic Search

    William J. Harb

    \\u000a The gastrointestinal polyposis syndromes (PS) are characterized by the development of multiple polyps, characteristically\\u000a colorectal, but occasionally involving the small intestine and (less commonly) the stomach. PS may be characterized by the\\u000a histologic type of polyps found, being either adenomatous, hamartomatous, or hyperplastic. Additionally, they may be characterized\\u000a by the mode of inheritance, being either autosomal dominant or autosomal recessive.

  16. Metabolic cutis laxa syndromes

    Microsoft Academic Search

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

    2011-01-01

    Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis\\u000a of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired\\u000a condition. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular\\u000a matrix proteins. Surprisingly

  17. Tourette’s Syndrome

    Microsoft Academic Search

    Kirsten R. Müller-Vahl

    \\u000a Tourette’s syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour\\u000a disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that\\u000a are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports\\u000a and preliminary controlled studies it is

  18. 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

  19. The Williams Syndrome Cognitive Profile

    Microsoft Academic Search

    Carolyn B. Mervis; Byron F. Robinson; Jacquelyn Bertrand; Colleen A. Morris; Bonita P. Klein-Tasman; Sharon C. Armstrong

    2000-01-01

    Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on chromosome 7q11.23. In this article, we outline a Williams Syndrome Cognitive Profile (WSCP) that operationalizes the cognitive characteristics of the syndrome using measures of absolute and relative performance on subtests of the Differential Abilities Scales (Elliot, 1990a). Testing confirmed excellent sensitivity and specificity

  20. Sweet's syndrome and subacute thyroiditis

    PubMed Central

    Kalmus, Y.; Kovatz, S.; Shilo, L.; Ganem, G.; Shenkman, L.

    2000-01-01

    A 63 year old woman developed biopsy documented lesions of acute febrile neutrophilic dermatosis (Sweet's syndrome) one week after the onset of subacute thyroiditis. This is only the second reported case of such an association. The role of cytokines in the development of both subacute thyroiditis and Sweet's syndrome may be the link between these two conditions.???Keywords: Sweet's syndrome; thyroiditis; cytokines; thyroid PMID:10727568

  1. Therapy for the Brugada Syndrome

    Microsoft Academic Search

    C. Antzelevitch; J. M. Fish

    The Brugada syndrome is a congenital syndrome of sudden cardiac death first described as a new clinical entity in 1992. Electrocardiographically\\u000a characterized by a distinct coved-type ST segment elevation in the right precordial leads, the syndrome is associated with\\u000a a high risk for sudden cardiac death in young and otherwise healthy adults, and less frequently in infants and children. The

  2. New autosomal recessive faciodigitogenital syndrome.

    PubMed Central

    Teebi, A S; Naguib, K K; Al-Awadi, S; Al-Saleh, Q A

    1988-01-01

    Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed. Images PMID:3398008

  3. 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

  4. Unusual presentation of Klinefelter syndrome

    PubMed Central

    Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

    2013-01-01

    Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

  5. Mitochondrial syndromes with leukoencephalopathies.

    PubMed

    Wong, Lee-Jun C

    2012-02-01

    White matter involvement has recently been recognized as a common feature in patients with multisystem mitochondrial disorders that may be caused by molecular defects in either the mitochondrial genome or the nuclear genes. It was first realized in classical mitochondrial syndromes associated with mitochondrial DNA (mtDNA) mutations, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), Leigh's disease, and Kearns-Sayre's syndrome. Deficiencies in respiratory chain complexes I, II, IV, and V often cause Leigh's disease; most of them are due to nuclear defects that may lead to severe early-onset leukoencephalopathies. Defects in a group of nuclear genes involved in the maintenance of mtDNA integrity may also affect the white matter; for example, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) caused by thymidine phosphorylase deficiency, Navajo neurohepatopathy (NNH) due to MPV17 mutations, and Alpers syndrome due to defects in DNA polymerase gamma (POLG). More recently, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) has been reported to be caused by autosomal recessive mutations in a mitochondrial aspartyl-tRNA synthetase, DARS2 gene. A patient with leukoencephalopathy and neurologic complications in addition to a multisystem involvement warrants a complete evaluation for mitochondrial disorders. A definite diagnosis may be achieved by molecular analysis of candidate genes based on the biochemical, clinical, and imaging results. PMID:22422207

  6. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Schwartz, Stuart; Miller, Jennifer L; Driscoll, Daniel J

    2012-01-01

    Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available. PMID:22237428

  7. 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

  8. Understanding jejunal hemorrhage syndrome.

    PubMed

    Elhanafy, Mohamed M; French, Dennis D; Braun, Ueli

    2013-08-01

    Jejunal hemorrhage syndrome (JHS) is an acute, highly fatal enterotoxemic disorder in dairy cattle that has been reported during the last few decades. No specific cause of this syndrome has been identified; however, several studies have revealed a strong association between JHS and infection with Clostridium perfringens type A. A common mold, Aspergillus fumigatus, has also been implicated as a potential causative agent in this disease syndrome. Clinical signs of JHS (including sudden decreases in feed intake and milk production, rapid loss of condition, a right-sided ping audible during simultaneous auscultation and percussion of the abdomen, abdominal distension, and melena or bloody feces) usually develop early during lactation when cattle receive rations that are high in energy and low in fiber. Appropriate preventive strategies have not yet been determined, and intensive medical management with or without surgical intervention is rarely successful. The use of commercially available vaccines that are directed against C perfringens types C and D is of questionable efficacy and not likely to be helpful as a preventative measure. This article highlights the potential etiologic and risk factors, describes common clinical signs, outlines relevant diagnostic testing, and summarizes treatment options and their outcomes. PMID:23865877

  9. Androgen insensitivity syndrome.

    PubMed

    Mendoza, Nicolás; Motos, Miguel Angel

    2013-01-01

    Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene encoding the androgen receptor (AR; Xq11-q12). The prevalence of AIS has been estimated to be one case in every 20,000 to 64,000 newborn males for the complete syndrome (CAIS), and the prevalence is unknown for the partial syndrome (PAIS). The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Various forms of ambiguous genitalia have been observed at birth. The diagnosis is confirmed by determining the exact mutation in the AR gene. PAIS individuals require precise diagnosis as early as possible so that the sex can be assigned, treatment can be recommended, and they can receive proper genetic counseling. After birth, differential diagnosis should be performed using other forms of abnormal sexual differentiation of primary amenorrhea. The treatment of AIS is based on reinforcement sexual identity, gonadectomy planning, and hormone replacement therapy. The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time. For PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex. PMID:22812659

  10. [Fertility in Klinefelter syndrome].

    PubMed

    Lejeune, Hervé; Brosse, Aurélie; Plotton, Ingrid

    2014-02-01

    In Klinefelter syndrome with non-mosaic 47,XXY caryotype, a biological paternity can be obtained by TEsticular Sperm Extraction and Intra-Cytoplasmic sperm injection (TESE-ICSI). TESE is positive in about 50 % of the cases in published series of non-mosaic 47,XXY Klinefelter syndrome. Age is the main prognosis factor for TESE. Among patients seeking children, the percentage of positive TESE is higher in younger men. Sperm cells are extracted from focal spermatogenesis. They differenciate from spermatogonia which have corrected their chromosome complement (46,XY). The risk of aneuploidy is similar in Klinefelter syndrome and in non-obstructive azoospermia with normal caryotype. Among more than 100 born children reported in the literature, all have a normal caryotype. Only one foetus, within a triple pregnancy, had a 47,XXY caryotype. Whether the percentage of positive TESE is better for adolescent than for adult Klinefelter patients should be addressed by performing a TESE in adolescent (from 15 years old) similarly to adult Klinefelter patients. TESE will be followed by cryopreservation of extracted sperms. They will be used latter for ICSI when the patient will seek children. This early TESE can be performed before the beginning of the androgenic treatment, avoiding the potential deleterious feedback effect of exogenous testosterone on the gonadotropin secretion and on the focal spermatogenesis. Any androgenic treatment should be interrupted at least six months before the TESE to avoid the feedback lowering effect on gonadotropin secretion. PMID:24439539

  11. The fragile X syndrome.

    PubMed Central

    de Vries, B B; Halley, D J; Oostra, B A; Niermeijer, M F

    1998-01-01

    The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples of a "novel" class of disorders caused by a trinucleotide repeat expansion. In the normal population, the CGG repeat varies from six to 54 units. Affected subjects have expanded CGG repeats (>200) in the first exon of the FMR1 gene (the full mutation). Phenotypically normal carriers of the fragile X syndrome have a repeat in the 43 to 200 range (the premutation). The cloning of the FMR1 gene led to the characterisation of its protein product FMRP, encouraged further clinical studies, and opened up the possibility of more accurate family studies and fragile X screening programmes. Images PMID:9678703

  12. Shwachman-Diamond syndrome.

    PubMed

    Dall'oca, C; Bondi, M; Merlini, M; Cipolli, M; Lavini, F; Bartolozzi, P

    2012-08-01

    Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of hypoplasia and fat infiltration. Some patients may develop myeloblastic syndrome and acute myeloblastic leukemia. The genetic defect in SDS has been identified in 2002. The osteoporosis is increased in patients with SDS, and also, bone malformations are included among the primary characteristics of the syndrome. The severity and location change with age and sexes. The typical characteristics include the following: secondary ossification centers delayed appearance, metaphysis enlargement and irregularity (very common in childhood, particularly in coastal and femur), growth cartilage progressive thinning and irregularity (possibly asymmetric growth), generalized osteopenia with cortical thinning. We describe a clinical case regarding an SDS patient with severe bone abnormalities and treated surgically for corrective osteotomy. The persistent or intermittent neutropenia that characterized this disease and the consequent risk of infection is a contraindication for short stature correction and limbs lengthening. PMID:22201042

  13. [Propofol infusion syndrome].

    PubMed

    Motsch, J; Roggenbach, J

    2004-10-01

    Propofol infusion syndrome has not only been observed in patients undergoing long-term sedation with propofol, but also during propofol anesthesia lasting 5 h. It has been assumed that the pathophysiologic cause is propofol's impairment of oxidation of fatty acid chains and inhibition of oxidative phosphorylation in the mitochondria, leading to lactate acidosis and muscular necrosis. It has been postulated that propofol might act as a trigger substrate in the presence of priming factors. Severe diseases in which the patient has been exposed to high catecholamine and cortisol levels have been identified as trigger substrates. Once the development of propofol infusion syndrome is suspected, propofol infusion has to be stopped immediately and specific therapeutic measures initiated, including cardiocirculatory stabilization and correction of metabolic acidosis. To increase elimination of propofol and its potential toxic metabolites, hemodialysis or hemofiltration are recommended. Due to its possible fatal side effects, the use of propofol for long-term sedation in critically ill patients should be reconsidered. In cases of unexplained lactate acidosis occurring during continuous propofol infusion, propofol infusion syndrome must be taken into consideration. PMID:15448937

  14. 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

  15. [The Stasi persecution syndrome].

    PubMed

    Peters, U H

    1991-07-01

    For many years western psychiatrists only out of their clinical experience have known about a syndrome for which the name Stasi-persecution-syndrome will be used here. Stasi was the all powerful secret police of what was the East German Democratic Republic. The syndrome concerns an hitherto unknown number of the aprox. 50,000 survivors. It is a sequel of a form of persecution now more generally named torture. The characteristics of the persecution include arrestion, interrogations, degradation, humiliation, maltreatment, assault, mass detention in tiny rooms, hunger, cold, discrimination, defamation, disgrace, outlaw, social degradation, absence of rights, uncertainty of future, life threatening, and stigmatizing. The sequels resemble in many aspects of what is known by the psychiatry of the persecuted, but own a special flavor. Among the sequels are persisting and paranoid anxieties, re-arousable by specific situations. There are also realistic anxiety and persecution dreams, mood disturbances, lack of confidence, attempted suicide and complaints about lack of understanding by others, which the victims suffer from. Questions of indemnification for psychiatric sequelae have entered into a new stage after the East-German parliament had passed a rehabilitation bill and because of corresponding declarations in the unification treaty. Psychiatrists should fight for treatment costs and appropriate compensation for physical and psychiatric sequels of Stasi persecution to be set into reality as soon as possible. There is urgent need for a not yet existing scientific literature and publications of clinical experiences. PMID:1916583

  16. [Metabolic syndrome and skin diseases].

    PubMed

    Svacina, S

    2008-01-01

    Skin symptoms were originally described only in some components of the metabolic syndrome (e.g. in obesity, diabetes and polycystic ovary syndrome). In the last years several skin symptoms were described also in the metabolic syndrome. These relations were mostly described between psoriasis and metabolic syndrome, where perhaps common pathogenetic mechanisms are present. Even more important is the fact that physical activity, weight loss and diet treatment can have a common positive effect on both diseases. Also some drugs can influence both diseases together. PMID:18724527

  17. Nerve entrapment syndromes in musicians.

    PubMed

    Wilson, Robert J; Watson, Jeffry T; Lee, Donald H

    2014-09-01

    Nerve entrapment syndromes are common in instrumental musicians. Carpal tunnel syndrome, ulnar neuropathy at the elbow, and thoracic outlet syndrome appear to be the most common. While electrodiagnostic studies may confirm the diagnosis of nerve entrapment, they may be falsely normal in musicians. Non-operative treatment with instrument and technique modification may help. Involvement with the musician's teacher to implement appropriate treatment is recommended. Outcomes for both non-operative and operative treatment for various nerve entrapment syndromes have yielded mostly good to excellent results, similar to the general population. PMID:24644143

  18. Genetics Home Reference: Pendred syndrome

    MedlinePLUS

    ... vestibular system). Additionally, a structure called the vestibular aqueduct is unusually large in people with Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ...

  19. Marfan Syndrome: A Case Report

    PubMed Central

    Ganesh, Rajendran; Vijayakumar, Rajendran; Selvakumar, Haridoss

    2012-01-01

    Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries. PMID:23304566

  20. Hyperventilation and exhaustion syndrome

    PubMed Central

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification – F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called ‘Grounding’, a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients’ average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = ?3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = ?0.514, p < 0.01), pain (r = ?.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = ?0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R2 = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. PMID:24134551