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A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.  

PubMed Central

Genetic linkage analyses suggest that mutations in type II collagen may be responsible for Stickler syndrome, or arthro-ophthalmopathy (AO), in many families. In the present study oligonucleotide primers were developed to amplify and directly sequence eight of the first nine exons of the gene for type II procollagen (COL2A1). Analysis of the eight exons in 10 unrelated probands with AO revealed that one had a single-base mutation in one allele that changed the codon of -CGA- for arginine at amino acid position alpha 1-9 in exon 7 to a premature termination signal for translation. The second mutation found to cause AO was, therefore, similar to the first in that both created premature termination signals in the COL2A1 gene. Since mutations producing premature termination signals have not previously been detected in genes for fibrillar collagens, the results raise the possibility that such mutations in the COL2A1 gene are a common cause of AO. Images Figure 2 Figure 3

Ahmad, N N; McDonald-McGinn, D M; Zackai, E H; Knowlton, R G; LaRossa, D; DiMascio, J; Prockop, D J



Clinical Variability of Stickler Syndrome  

Microsoft Academic Search

Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder resulting from mutations in at least three collagen genes. The most common disease-causing gene is COL2A1, a 54-exon–containing gene coding for type II collagen. At least 17 different mutations causing Stickler syndrome have been reported in this gene. Phenotypically, it is also a variably expressed disorder in which most patients present

Larry A Donoso; Albert O Edwards; Arcilee T Frost; Robert Ritter; Nina Ahmad; Tamara Vrabec; Jerry Rogers; David Meyer; Scott Parma



Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist  

PubMed Central

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement—a particularly important group for the ophthalmologist to identify.

Snead, M P; McNinch, A M; Poulson, A V; Bearcroft, P; Silverman, B; Gomersall, P; Parfect, V; Richards, A J



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

PubMed Central

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.

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



Mosaicism in Stickler syndrome  

PubMed Central

Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome who have clinically unaffected parents. Both sibs have a novel heterozygous mutation in exon 26 of COL2A1 (c.1525delT); this results in a premature termination codon downstream of the mutation site. One parent was found to have low level mosaicism in DNA extracted from whole blood. This scenario encourages consideration of molecular testing in seemingly unaffected parents for recurrence risks and potential screening for mild age-related manifestations.

Stevenson, David A.; Vanzo, Rena; Damjanovich, Kristy; Hanson, Heather; Muntz, Harlan; Hoffman, Robert O.; Bayrak-Toydemir, Pinar



COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes  

PubMed Central

AIMS—To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome.?BACKGROUND—Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective tissue, resulting in an abnormal vitreous, myopia, and a variable degree of orofacial abnormality, deafness, and arthropathy. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment in childhood with a risk of giant retinal tear (GRT) which is commonly bilateral and a frequent cause of blindness.?METHOD—Pedigrees were identified from the vitreoretinal service database and subclassified according to vitreoretinal phenotype. Ophthalmic, skeletal, auditory, and orofacial features were assessed. Linkage analysis was carried out with markers for the candidate genes COL2A1, COL11A1, and COL11A2. The COL2A1 gene was amplified as five overlapping PCR products. Direct sequencing of individual exons identified mutations.?RESULTS—Eight families exhibiting the type 1 vitreous phenotype were studied. Seven were consistent for linkage to COL2A1, with lod scores ranging from 2.1 to 0.3. In most instances linkage to COL11A1 and COL11A2 could be excluded. One family was analysed without prior linkage analysis. Three of the families exhibited a predominantly ocular phenotype with minimal or absent systemic involvement and were found to have mutations in exon 2 of COL2A1. Five other pedigrees with an identical ocular phenotype plus orofacial, auditory, and articular involvement had mutations in others regions of the COL2A1 gene. None of the pedigrees exhibited the characteristic lenticular, retinal pigment epithelial, or choroidal changes seen in Wagner syndrome.?CONCLUSIONS—These data confirm that type 1 Stickler syndrome is caused by mutations in the gene encoding type II collagen (COL2A1). In addition, data are submitted showing that mutations involving exon 2 of COL2A1 are characterised by a predominantly ocular variant of this disorder, consistent with the major form of type II procollagen in non-ocular tissues having exon 2 spliced out. Such patients are all at high risk of retinal detachment. This has important implications for counselling patients with regard to the development of systemic complications. It also emphasises the importance and reliability of the ophthalmic examination in the differential diagnosis of this predominantly ocular form of Stickler syndrome from Wagner's vitreoretinopathy.??

Richards, A.; Martin, S.; Yates, J.; Scott, J.; Baguley, D.; Pope, F; Snead, M.



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

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.

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



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

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.

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




NSDL National Science Digital Library

In this outdoor simulation game, learners search for pretend animals called "sticklers" to determine and map where they live (habitat) and how spread out they are in that area (distribution). Learners can explore three types of distributionâuniform (evenly spaced), random (irregularly scattered) and clumped (bunched in one or more places) and compare the patterns of animal life in their game to real animals patterns in nature.

Science, Lawrence H.



Hearing impairment in Stickler syndrome: a systematic review  

PubMed Central

Background Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype. Methods English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation. Results 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). Conclusions Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.



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

Microsoft Academic Search

Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1

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



Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts  

Microsoft Academic Search

Background  Stickler syndrome is a hereditary oculo-systemic disorder where patients are predisposed to retinal detachments which are\\u000a often complex and challenging to manage. Significant progress has been made regarding the molecular genetics of the condition;\\u000a however, there is little recent literature on surgery for retinal detachment in Stickler syndrome. Our aim is to describe\\u000a a population of Stickler patients presenting to

Poorna Abeysiri; Catey Bunce; Lyndon da Cruz



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

Microsoft Academic Search

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

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



Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome  

PubMed Central

Purpose Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and OSS as a symptom complex rather than a diagnosis. Methods Detailed clinical and radiographic examinations were undertaken with emphasis on the role of MRI imaging. Magnetic resonance imaging may allow early prediction of articular lesion healing potential in patients with Stickler syndrome. Results The phenotype of Stickler syndrome can be diverse and therefore misleading. The expectation that the full clinical criteria of any given genetic disorder such as Stickler syndrome will always be present can easily lead to an underestimation of these serious inheritable disorders. We report here two family subjects, a male proband and his aunt (paternal sister), both presented with the major features of Stickler syndrome. Tall stature with marfanoid habitus, astigmatism/congenital vitreous abnormality and submucus cleft palate/cleft uvula, and enlarged painful joints with early onset osteoarthritis. Osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) were the predominating joint abnormalities. Conclusion We observed that the nature of the articular and physeal abnormalities was consistent with a localised manifestation of a more generalised epiphyseal dysplasia affecting the weight-bearing joints. In these two patients, OCD and OSS appeared to be the predominant pathologic musculoskeletal consequences of an underlying Stickler's syndrome. It is empirical to consider generalised epiphyseal dysplasia as a major underlying causation that might drastically affect the weight-bearing joints.

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



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

PubMed Central

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.

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



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

PubMed Central

Background COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame. The mutant protein then exerts a dominant negative effect as it co-assembles with other collagen gene products. To date only one large deletion of 40 kb in the COL11A1, which was detected by RT-PCR, has been characterized. However, commonly used screening protocols, utilizing genomic amplification and exon sequencing, are unlikely to detect such large deletions. Consequently the frequency of this type of mutation is unknown. Case presentations We have used Multiplex Ligation-Dependent Probe Amplification (MLPA) in conjunction with exon amplification and sequencing, to analyze patients with clinical features of Stickler syndrome, and have detected six novel deletions that were not found by exon sequencing alone. Conclusion Exon deletions appear to represent a significant proportion of type 2 Stickler syndrome. This observation was previously unknown and so diagnostic screening of COL11A1 should include assays capable of detecting both large and small deletions, in addition to exon sequencing.



Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations  

Microsoft Academic Search

PURPOSE: To identify the genetic defect and present the ocular and extraocular findings in a large pedigree of predominantly ocular Stickler syndrome.DESIGN: Observational case series.METHODS: An eight-generation pedigree with hereditary retinal detachments was retrospectively and prospectively studied. Clinical information was obtained by medical records, telephone interviews, medical questionnaires, detailed ophthalmologic examinations, physical examinations, and personal observations. Linkage analysis of the

Edward S Parma; Jarmo Körkkö; William S Hagler; Leena Ala-Kokko



Marshall-Stickler phenotype associated with von Willebrand disease  

SciTech Connect

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.

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



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

PubMed Central

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.

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



Genes and Syndromic Hearing Loss.  

ERIC Educational Resources Information Center

This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

Keats, Bronya J. B.



Genes and Syndromic Hearing Loss.  

ERIC Educational Resources Information Center

|This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

Keats, Bronya J. B.



What Are Related Disorders?  


... Ectopia Lentis Syndrome Beals Syndrome Bicuspid Aortic Valve Stickler Syndrome Shprintzen-Goldberg Syndrome RELATED PAGES Familial Thoracic Aortic Aneurysm and Dissection Loeys-Dietz Syndrome Stickler Syndrome CALL OUR HELP CENTER: 800-8-MARFAN x126 ...


Genes and syndromic hearing loss.  


Syndromes that are associated with hearing loss include Waardenburg, Stickler (STL), Jervell and Lange-Nielsen, Usher (USH), Alport, mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and sensorineural hearing loss (MELAS) and mitochondrial encephalomyopathy, myoclonus epilepsy, ragged-red fibers, and sensorineural hearing loss (MERRF). Waardenburg and STL show an autosomal dominant pattern of inheritance, while Jervell and Lange-Nielsen and USH are autosomal recessive, and Alport is usually X-linked. Mutations in specific genes that are associated with each of these syndromes have been identified, and genetic diagnostic tests are becoming available. The goal of ongoing research is to understand the functions of the proteins encoded by these genes, and develop effective therapies based on knowledge of the underlying causal mutations. Learning outcomes: The reader will be introduced to basic genetic principles and will understand that (1) the etiology of hearing loss is usually genetic and many patients should be referred to a clinical geneticist; (2) a negative family history does not mean that the hearing loss is not genetic; (3) hearing loss may be part of a syndrome for which early detection and intervention for associated anomalies is necessary; and (4) many different mutations in a large number of genes underlie hearing loss. PMID:12160354

Keats, Bronya J B


Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome  

PubMed Central

Objective To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts. It has significant phenotypic overlap with allelic Jansen syndrome and ocular Stickler syndrome type 1. Sticker syndrome type 1 maps to chromosome 12q13.11-q13.2, with associated COL2A1 gene mutations. Wagner syndrome maps to chromosome 5q13-q14 and is associated with mutations in CSPG2 encoding versican, a proteoglycan present in human vitreous. Methods Genomic DNA samples derived from venous blood were collected from all family members. Complete sequencing of COL2A1 was performed on a proband. Primers for polymerase chain reaction and sequencing were designed to cover all exon and intronexon boundaries. Direct sequencing of CSPG2 was performed on all family member samples. Results No detectable COL2A1 mutations were noted, making the diagnosis of ocular Stickler syndrome highly unlikely for this family. A unique base pair substitution (c.9265+1G>T) in intron 8 of the CSPG2 gene cosegregating with disease status was identified. This mutation occurred in a highly conserved previously reported splice site with a similar base pair substitution(G>A). Direct sequencing of this splice site mutation in 107 unrelated external controls revealed no variants, supporting the rarity of this base pair change and its causation in Wagner syndrome. This novel base pair substitution is thought to cause the deletion of exon 8 and formation of a truncated protein product. Conclusion Mutation screening of CSPG2 in autosomal dominant vitreoretinopathy families is important for accurate diagnosis. Clinical Relevance This study underscores the importance of obtaining extensive pedigree information and comparative ophthalmologic clinical information, as the phenotypic findings may vary greatly among independent family members. The study also affirms the paradigm shift from diagnosis assignment based on eponyms to that based on gene mutation type.

Ronan, Shawn M.; Tran-Viet, Khanh-Nhat; Burner, Erica L.; Metlapally, Ravikanth; Toth, Cynthia A.; Young, Terri L.



Scheie syndrome  


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


Craniofacial Syndrome Descriptions  


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


Pendred Syndrome  


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


Alagille syndrome  

Microsoft Academic Search

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

I D Krantz; D A Piccoli; N B Spinner



Goldenhar's syndrome.  


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

Feingold, M; Baum, J



Moebius Syndrome  


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


Hurler syndrome  


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


Duane's syndrome.  


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

Gutowski, N J



Rett Syndrome  


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


Marfan Syndrome  


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


Asherman syndrome  


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


Fanconi syndrome  


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


Turcot Syndrome  


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


Sotos Syndrome  


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


Angelman Syndrome  


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


Troyer Syndrome  


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


Piriformis Syndrome  


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


Cowden syndrome.  

PubMed Central

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

Hanssen, A M; Fryns, J P



Klinefelter Syndrome  


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


[Mannequin syndrome].  


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

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



Gardner's syndrome  

Microsoft Academic Search

In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1–7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to under-stand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is

Edwin W. Naylor; Emanuel Lebenthal



Oculocerebrocutaneous Syndrome (Delleman Syndrome)  

Microsoft Academic Search

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

Ignacio Pascual-Castroviejo


Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'  

PubMed Central

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

Arora, Vipul; Kim, Usha R; Khazei, Hadi M



Neurobehavioral syndromes.  


Dysfunction of higher cortical function and neurobehavioral syndromes may be present in up to 87% of stroke patients. These symptoms may occur less often in patients with transient ischemic attacks (36%). Approximately 22% of stroke patients may present only with cognitive and neurobehavioral symptoms without elementary neurological deficits. In this chapter we concentrate on delusions, hallucinations, misidentification syndromes, anosognosia of hemiplegia, aggressive behavior and also extended self syndrome. PMID:22377864

Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien



Gorlin Syndrome  

PubMed Central

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

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



Gorlin syndrome.  


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

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



Aicardi syndrome.  


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

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



Fisher Syndrome  

Microsoft Academic Search

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

Masahiro Mori; Satoshi Kuwabara



Turner Syndrome  


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


[Cotard syndrome].  


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

Simovici, G; Bauer, A



Hepatorenal Syndrome  

Microsoft Academic Search

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

Mónica Guevara; Pere Ginès



Cockayne's syndrome  

Microsoft Academic Search

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

M. Lanning; S. Similä



Lemierre syndrome  

Microsoft Academic Search

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

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



Proteus Syndrome  

Microsoft Academic Search

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

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



Syndromic Craniosynostosis  

PubMed Central

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

Derderian, Christopher; Seaward, James



Velocardiofacial syndrome.  

PubMed Central

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

Pike, A. C.; Super, M.



Neuroacanthocytosis Syndromes  

PubMed Central

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



Allgrove syndrome.  


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

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



Lemierre syndrome.  


Lemierre syndrome is an uncommon disease which commonly arise from acute bacterial oropharyngeal infection. This disease was first described in 1900 by Courmont and Cade Lemierre. It is commonly caused by Fusobacterium necrophorum. Lemierre syndrome has been reported to be serious and potentially fatal in the preantibiotic era. It is characterized by an oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein with embolization to the lungs and other organs. The incidence has become relatively rare at present and is usually only diagnosed when unsuspected culture results are available. We report a case of Lemierre syndrome which was recently diagnosed in our centre. PMID:23082433

Lim, Ai Lee; Pua, Kin Choo



Noonan syndrome  


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


Klinefelter syndrome  


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


Paraneoplastic Syndromes  

PubMed Central

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

Stolinsky, David C.



Caplan syndrome  


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


[Sandifer syndrome].  


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

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



Levator Syndrome  


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


Aicardi syndrome  


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


Asperger Syndrome  


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


Reye's Syndrome  


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


Rett Syndrome  


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


Serotonin Syndrome  


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


Sjogren's Syndrome  


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


Tourette Syndrome  


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


Bartter syndrome  


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


Usher Syndrome  


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


Lemierre syndrome.  


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

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



Sheehan's Syndrome  


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


Gardner Syndrome  


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


Hyperventilation syndrome  

Microsoft Academic Search

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

Richard E. Brashear



Noonan syndrome.  


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

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



Lemierre's syndrome  

Microsoft Academic Search

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

J. Gong; J. Garcia



[Sjogren's syndrome].  


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

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


Central Cord Syndrome  


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


Central Pain Syndrome  


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


Hantavirus Pulmonary Syndrome  


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


Hyperimmunoglobulin E syndrome  


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


Sexuality and Down Syndrome  


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


[Marfan syndrome].  


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

Kaitila, Ilkka; Jokinen, Eero; Kokkonen, Jorma



Antiphospholipid syndrome.  


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

Asherson, R A; Cervera, R



[Autoinflammatory syndromes].  


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

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


Cardiorenal syndromes  

PubMed Central

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

McCullough, Peter A; Ahmad, Aftab



SAPHO syndrome.  


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

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



Premenstrual syndrome  

PubMed Central

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



[Chromosome instability syndromes].  


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

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



Premenstrual syndrome.  


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

Gianetto-Berruti, A; Feyles, V



Lemierre's syndrome.  


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

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



SAPHO syndrome.  


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

Carneiro, Sueli; Sampaio-Barros, Percival D



Genetics Home Reference: Cohen syndrome  


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


Aicardi syndrome  

Microsoft Academic Search

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

Jean Aicardi



HELLP Syndrome  


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


Fahr's Syndrome  


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


Scimitar syndrome.  


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

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



Gardner's syndrome  

Microsoft Academic Search

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

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



Hurler Syndrome  


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


Cockayne's syndrome  

Microsoft Academic Search

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

Ursula Rowlatt



Overtraining syndrome  

Microsoft Academic Search

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

R Budgett



Sensory syndromes.  


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

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



Rett Syndrome.  

ERIC Educational Resources Information Center

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

Culbert, Linda A.


[Caplan's syndrome].  


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

Benesová, E; Brhel, P



Lynch Syndrome  


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


Sotos syndrome.  


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

Baujat, Geneviève; Cormier-Daire, Valérie



Reye syndrome.  


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

De Vivo, D C



The Source for Syndromes.  

ERIC Educational Resources Information Center

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

Richard, Gail J.; Hoge, Debra Reichert


[Cardiorenal syndrome].  


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

Alscher, M D; Sechtem, U



[Schnitzler's syndrome].  


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

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



[Overlapping syndrome].  


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

Tanimoto, K



Paraneoplastic syndromes  

SciTech Connect

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

Weller, R.E.



Metabolic Syndrome  

Microsoft Academic Search

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

Gerald M. Reaven


Myelodysplastic syndromes  

Microsoft Academic Search

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

Kenneth B. Miller



[Gardner syndrome].  


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

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


[Eagle's Syndrome].  


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

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes


Lemierre syndrome.  


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

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



Lemierre Syndrome  

PubMed Central

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

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



Masquerade Syndromes  

Microsoft Academic Search

The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

Shouvik Saha; Elizabeth M. Graham


Child Syndrome  

Microsoft Academic Search

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

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


Heterotaxy Syndrome  

PubMed Central

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



[Crush syndrome].  


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

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



Crouzonodermoskeletal syndrome.  


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

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



Hepatorenal syndrome  

PubMed Central

Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable “bridge treatments” or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

Lata, Jan



ADHD and genetic syndromes  

Microsoft Academic Search

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

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



Perspectives on craniofacial syndromes.  


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

Cohen, M M; Kreiborg, S



Jacobsen syndrome  

PubMed Central

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

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



[Piriformis syndrome].  


Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique



Serotonin syndrome.  


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

Prator, Bettina C



[Hypereosinophilic syndrome].  


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

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



Mazabraud syndrome  

PubMed Central

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

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



Behçet's syndrome.  


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

Hatemi, Gulen; Yazici, Yusuf; Yazici, Hasan



[Alagille syndrome].  


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

Ciocca, Mirta; Alvarez, Fernando



Myelodysplastic syndromes.  


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

Orazi, Attilio; Czader, Magdalena B



[Hyponatremic syndrome].  


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

Urso, C; Caimi, G



Reed's Syndrome  

PubMed Central

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

Solomon, Shayna; Mercer, Stephen E.



Sheehan's syndrome.  


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

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



Premenstrual syndrome.  


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

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



Epidemiology of Turner syndrome  

Microsoft Academic Search

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

Claus Højbjerg Gravholt; Kirstine Stochholm



Restless Legs Syndrome  


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


Stiff-Person Syndrome  


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


Leopard syndrome  

PubMed Central

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

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



Bouveret syndrome.  


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

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



Nodding syndrome.  


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

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



Lowe syndrome  

PubMed Central

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

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



Binder's syndrome  

PubMed Central

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

Jain, Upendra; Thakur, Gagan; Kallury, Amitabh



[Behçet's syndrome].  


Behcet's syndrome (BS) is characterized by recurrent episodes of inflammatory manifestations, including oral and genital aphtosis, skin lesions, ocular attacks, arthritis, central nervous system and vascular manifestations (venous and arterial compartments). BS is more common in populations living in the ancient "silk road" from eastern Europe all the way to Japan. Several evidence suggest that both genetic and environmental factors are involved the pathogenesis. The association with the antigen HLA-B51 is observed with a highest frequency among patients of Middle Eastem countries and Japan. The diagnosis of BS is primarily established on clinical grounds in the absence of specific biological marker. The treatment is tailored according to the severity of clinical manifestations. The prognosis is more severe in young men. PMID:18472734

Gabay, C



Noonan syndrome  

PubMed Central

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

van der Burgt, Ineke



Gorlin-goltz syndrome.  


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

Pandeshwar, Padma; Jayanthi, K; Mahesh, D



Gorlin-Goltz Syndrome  

PubMed Central

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

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



Schimmelpenning syndrome.  


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

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



Asherman's syndrome.  


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

March, Charles M



Epidermal nevus syndromes.  


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

Happle, R



Fragile X Syndrome.  

ERIC Educational Resources Information Center

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

de la Cruz, Felix F.



Yellow nail syndrome (image)  


Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...


Post-Polio Syndrome  


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



PubMed Central

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

Calva, Daniel; Howe, James R.



Solitary Rectal Ulcer Syndrome  


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


Marfan syndrome (image)  


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


Hantavirus Pulmonary Syndrome  


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


Fetal Alcohol Syndrome  


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


ADHD & Down Syndrome  


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


Ectopic Cushing syndrome  


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


Toxic Shock Syndrome  


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


Toxic Shock Syndrome  


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


Munchausen syndrome by proxy  


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


Riley-Day syndrome  


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


Obesity Hypoventilation Syndrome  


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


Fragile X syndrome  


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


The Nonthyroidal Illness Syndrome  

Microsoft Academic Search

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

Suzanne Myers Adler; Leonard Wartofsky



Management of Brown syndrome.  


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

Lee, John


Small Bowel Polyposis Syndromes  

Microsoft Academic Search

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

Nadir Arber; Menachem Moshkowitz


Morbidity in Turner Syndrome  

Microsoft Academic Search

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

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



Restless Legs Syndrome  


... page from the NHLBI on Twitter. What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong ... and to find better treatments. Rate This Content: Restless Legs Syndrome Clinical Trials Clinical trials are research studies that ...


Triple A syndrome.  


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

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


Childhood Nephrotic Syndrome  


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


Syndrome des brides amniotiques  

Microsoft Academic Search

Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in

B. Poeuf; P. Samson; G. Magalon



[Wolf-Hirschhorn syndrome].  


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

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


First bite syndrome.  


Based on a review of the indexed medical literature (PubMed database), the authors describe the clinical features leading to the diagnosis of first bite syndrome, the pathophysiology of this syndrome and analyse the various treatment options available to otorhinolaryngologists to manage this syndrome. PMID:23890788

Laccourreye, O; Werner, A; Garcia, D; Malinvaud, D; Tran Ba Huy, P; Bonfils, P



Familial Crouzon syndrome  

PubMed Central

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

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



Behcet's Syndrome.  


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

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



Schmidt's syndrome - Case report  

PubMed Central

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

Gupta, Amit Narayan; Nagri, Shivashankara Kaniyoor



Fat embolism syndrome  

PubMed Central

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

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



The lax eyelid syndrome.  

PubMed Central

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

van den Bosch, W A; Lemij, H G



Fat embolism syndrome.  


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

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



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


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

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



Capgras' syndrome with organic disorders  

Microsoft Academic Search

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

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



Syndrome Dadaptation a Lespace (Space Adaptation Syndrome).  

National Technical Information Service (NTIS)

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

V. Didier



Syndrome Z - The New Metabolic Syndrome  

Microsoft Academic Search

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

Ravindran C; Arun P; Hari Lakshmanan P


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

Microsoft Academic Search

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

Nicolay Chertkoff Walz; Betsey A. Benson



SAPHO syndrome associated spondylitis  

PubMed Central

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

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



Hamartomatous polyposis syndromes  

PubMed Central

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



Melkersson-rosenthal syndrome  

Microsoft Academic Search

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

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



Styloid-stylohyoid syndrome  

PubMed Central

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

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



[Chilaidity syndrome. Case report].  


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

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


Urologic myofascial pain syndromes  

Microsoft Academic Search

Treatment of pain of urogenital origin, chronic pelvic pain syndrome, can be frustrating for patients and physicians. The\\u000a usual approaches do not always produce the desired results. Visceral pain from pelvic organs and myofascial pain from muscle\\u000a trigger points share common characteristics. Referred pain from myofascial trigger points can mimic visceral pain syndromes\\u000a and visceral pain syndromes can induce trigger

Ragi Doggweiler-Wiygul



Economy class syndrome.  


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

Sahiar, F; Mohler, S R



Lamotrigine induced DRESS syndrome.  


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

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


Constriction band syndrome.  


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

Kawamura, Kenji; Chung, Kevin C



The ectopic ACTH syndrome  

Microsoft Academic Search

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

Krystallenia I. Alexandraki; Ashley B. Grossman



Genetics Home Reference: Brugada syndrome  


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


Inherited Bone Marrow Failure Syndromes  


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


Genetics Home Reference: Pfeiffer syndrome  


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


Klippel-Trenaunay Syndrome (KTS)  


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


Drug Withdrawal Syndromes  

PubMed Central

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

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



Gastrointestinal polyposis syndromes.  


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

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



Wernicke-Korsakoff syndrome  


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


[Puffy hand syndrome].  


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

Arrault, M; Gaouar, F; Vignes, S



Laugier-Hunziker syndrome  

PubMed Central

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

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



Genetics Home Reference: Townes-Brocks Syndrome  


... anomalies syndrome renal-ear-anal-radial syndrome (REAR) sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome Townes syndrome ... anus ; kidney ; malformation ; mutation ; obstruction ; prevalence ; protein ; renal ; sensorineural ; syndrome ; transcription You may find definitions for these ...


Do you know this syndrome?*  

PubMed Central

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

Kondo, Rogerio Nabor; Martins, Ligia Marcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araujo, Fernanda Mendes



Cri du Chat syndrome  

Microsoft Academic Search

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

Lyndsay Cuming; Donna Diamond; Rouin Amirfeyz; Martin Gargan



The Couvade Syndrome  

PubMed Central

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

Laplante, Patrice



Superior vena cava syndrome.  


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

Wan, Jonathan F; Bezjak, Andrea



Myelopathy in Marfan's syndrome  

PubMed Central

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

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



Depersonalization syndrome: An overview  

Microsoft Academic Search

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

Evan M. Torch



Obstetric antiphospholipid syndrome  

Microsoft Academic Search

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

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


MRI of polysplenia syndrome.  


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

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


Stiff Person Syndrome  

Microsoft Academic Search

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

Martin E. Duddy; Mark R. Baker



Neuropathology of Joubert Syndrome  

Microsoft Academic Search

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

Anthony T. Yachnis; Lucy B. Rorke



Redefining syndromic surveillance.  


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

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



Arthropathy in Dressler's syndrome.  

PubMed Central

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

Davidson, C.



Renal coloboma syndrome  

Microsoft Academic Search

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

Lisa A Schimmenti



Equine Metabolic Syndrome  

Microsoft Academic Search

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

Nicholas Frank



Epidemiology of Down Syndrome  

ERIC Educational Resources Information Center

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

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



Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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

Wachtel, Tom J.; Pueschel, Siegfried M.



The congenital varicella syndrome  

Microsoft Academic Search

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

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



Classification of Malabsorption Syndromes  

Microsoft Academic Search

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

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



Plummer-Vinson syndrome  

PubMed Central

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

Novacek, Gottfried



Macrocytosis in Down Syndrome.  

ERIC Educational Resources Information Center

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

Wachtel, Tom J.; Pueschel, Siegfried M.



Goldenhar's syndrome: case report  

Microsoft Academic Search

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

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



Second-Impact Syndrome  

ERIC Educational Resources Information Center

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

Cobb, Sarah; Battin, Barbara



Carpal Tunnel Syndrome  

PubMed Central

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

Zimmerman, Gregory R.



[Schizophrenia or Asperger syndrome?].  


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

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



[Antiphospholipid syndrome and pregnancy].  


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

Gadó, Klára; Domján, Gyula



Dialysis disequilibrium syndrome.  


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

Zepeda-Orozco, Diana; Quigley, Raymond



Metabolic Syndrome in Japanese Patients with Obstructive Sleep Apnea Syndrome  

Microsoft Academic Search

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

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



Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)  

Microsoft Academic Search

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

B D Coppin; I K Temple



The Source for Syndromes 2.  

ERIC Educational Resources Information Center

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

Richard, Gail J.; Hoge, Debra Reichert


Cannabinoid Hyperemesis Syndrome  

PubMed Central

Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation.

Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.



Sneddon's Syndrome and the Primary Antiphospholipid Syndrome  

Microsoft Academic Search

Forty-six patients (33 women, 13 men, mean age 40 years) with Sneddon's syndrome characterized by an ischemic cerebrovascular disease combined with widespread livedo were studied. The clinical picture also included fetal loss (20 of 29 women who had become pregnant), peripheral venous thrombosis (12 patients), ischemic heart disease (18 patients), thrombocytopenia (8 of 40 patients), arterial hypertension (27 patients), headache

L. A. Kalashnikova; E. L. Nasonov; L. Z. Stoyanovich; V. U. Kovalyov; N. M. Kosheleva; T. M. Reshetnyak



Hereditary gastrointestinal polyposis syndromes.  


Hereditary gastrointestinal polyposis syndromes can be divided into adenomatous and hamartomatous types. Familial adenomatous polyposis coli (FAPC) is the prototype adenomatous polyposis syndrome and is defined by the autosomal dominant transmission of multiple (more than 100) colorectal adenomas. Virtually all affected patients develop colorectal carcinoma if untreated. Adenomas may develop also in the stomach and small bowel in FAPC patients, but the incidence of carcinoma in these sites is low. A variety of extracolonic manifestations has been reported in FAPC, with the name Gardner's syndrome applied to kindreds with osteomas of the skull and mandible, multiple epidermal cysts, and other skin and soft-tissue lesions. In Turcot's syndrome, brain tumors are present. The distinction between Gardner's and Turcot's syndromes and classical FAPC has become blurred because of marked overlap between them; some authorities consider them to be varying manifestations of a single genetic defect. The hamartomatous polyposes include Peutz-Jeghers syndrome, familial juvenile polyposis, Cowden's disease, intestinal ganglioneuromatosis, and the Ruvalcaba-Myrhe-Smith syndrome. The incidence of gastrointestinal cancer in patients with Peutz-Jeghers syndrome and familial juvenile polyposis exceeds that in the normal population, but is relatively low. In Cowden's disease, the gastrointestinal tract may be the site of multiple hamartomas, but there is no associated increase in the incidence of gastrointestinal cancers; instead, there is an increased incidence of carcinoma of the breast and thyroid. Intestinal ganglioneuromatosis occurs in von Recklinghausen's disease, in association with multiple endocrine neoplasia, type 2b, or as an isolated abnormality. Patients with ganglioneuromatosis do not appear to have an increased risk of developing gastrointestinal cancer. Ruvalcaba-Myrhe-Smith syndrome comprises macrocephaly, mental deficiency, an unusual craniofacial appearance, hamartomatous intestinal polyposis, and pigmented macules on the penis. No increased risk of developing cancer has been identified in the few reported cases. PMID:3024515

Haggitt, R C; Reid, B J



Neuropathology of Occipital Horn Syndrome  

Microsoft Academic Search

Occipital horn syndrome, formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is an allelic variant of Menkes' syndrome. Although the clinical symptomatology and systemic pathology findings have been well described in occipital horn syndrome, the neuropathology has not previously been reported. A kindred affected by the X-linked occipital horn syndrome is followed at the University of Alabama

Cheryl Ann Palmer; Alan K. Percy



Melkersson-rosenthal syndrome.  


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

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



Iliotibial band friction syndrome  

PubMed Central

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



[Presumed ocular histoplasmosis syndrome].  


Presumed ocular histoplasmosis syndrome is a macular hemorrhagic choroiditis of the young adult. The etiology of this syndrome is uncertain, but can be correlated with some positive reactions to histoplasmosis. The study was carried out on 12 patients, each of them was investigated by functional and objective ocular examinations, laboratory tests, fluorescein angiography and ultrasound examinations. The clinical signs of this syndrome of presumed ocular histoplasmosis were: macular focal lesions, subretinian hemorrhages, detachment of the retinal neurosensorial layer, presence of disseminated choroiditis scars and subretinian neovascularization. The correct evaluation of the choriocapillary perfusion is helpful to institute a proper therapy. PMID:15341107

Seceleanu, Andreea; C?lug?ru, M; Kaucsar, Emese; C?lug?ru, D



CHARGE syndrome: an update.  


CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome. PMID:17299439

Sanlaville, Damien; Verloes, Alain



Post-Concussion Syndrome  

Microsoft Academic Search

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

Grant L. Iverson; Rael T. Lange


Wells Syndrome (Eosinophilic Cellulitis)  

PubMed Central

Objective: To report a case of Wells syndrome (eosinophilic cellulitis) in a patient who was previously hospitalized twice and received several antibiotic treatments. Setting: Inpatient hospital consultation. Participant: One patient diagnosed with Wells Syndrome based on supporting clinical history, histopathological examination, and other laboratory data. Measurement: Change in signs and symptoms over time. Results: Improvement of skin lesions after administration of corticosteroids. Conclusion: Wells syndrome is a clinical condition that mimics bacterial cellulitis. It is characterized as an erythematous, edematous tender plaque with predilection for the lower extremity. The authors report this case to warn clinicians about other primary dermatological disorders that resemble infectious cellulitis in order to avoid misdiagnoses and delayed treatment.

Coloe, Jacquelyn; Peters, Sara; Zirwas, Matthew; Darabi, Kamruz



Joint hypermobility syndrome.  


Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement. PMID:23597972

Fikree, Asma; Aziz, Qasim; Grahame, Rodney



Ischemic Bilateral Opercular Syndrome  

PubMed Central

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

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



Distal arthrogryposis syndrome.  


A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome. PMID:20300297

Kulkarni, K P; Panigrahi, I; Ray, M; Marwaha, R K



Guillain-Barre Syndrome  


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


Acute Coronary Syndrome  


... coronary syndrome. But what about heart attack , or unstable angina ? Those well-known conditions are both acute ... worse even with rest, both hallmark symptoms of unstable angina . People who experience chronic chest pain resulting ...


Learning about Velocardiofacial Syndrome  


... of the syndrome. A special blood test called FISH (fluorescence in situ hybridization) is then done to ... not have the 22q11.2 deletion by standard FISH testing may have a smaller deletion that may ...


Chinese restaurant syndrome  


Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... Chest pain Flushing Headache Numbness or burning in or around the mouth Sense of facial pressure or swelling Sweating


Barth Syndrome (BTHS)  


... in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all ... such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of ...


Alport Syndrome Diagnosis  


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


Learning about Klinefelter Syndrome  


... How is Klinefelter syndrome diagnosed? A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this ... Development. Karyotyping [] From Medline Plus. Karyotype NHGRI's Talking Glossary of Genetics Terms. American Association ...


Beckwith-Wiedemann syndrome  


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


Chronic Fatigue Syndrome (Backgrounder).  

National Technical Information Service (NTIS)

Several different routes to Chronic Fatigue Syndrome may exist. In some people, a persistent viral infection may provoke CFS symptoms, and virologists continue to explore this possibility. Vulnerability to CFS may be associated with a sublte immune system...



Cardiopulmonary Syndromes (PDQ)  


... that takes blood back to the heart). This summary is about cardiopulmonary syndromes in adults and children with cancer. Section titles show when the information is about ... Other Versions: Mobile | Español U.S. Department of ...


Carpal Tunnel Syndrome  


... of carpal tunnel syndrome. You may have to experiment to find a treatment that works for you. Still, always check with your doctor before trying any complementary or alternative treatment. Yoga. Yoga postures designed for strengthening, stretching and balancing ...


Carpal Tunnel Syndrome  


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


Gorlin-Goltz syndrome.  


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

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



Hallermann-Streiff Syndrome  

PubMed Central

Hallermann-Streiff syndrome (HSS) is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.

Thomas, Jayakar; Ragavi, B Sindhu; Raneesha, PK; Ahmed, N Ashwak; Cynthia, S; Manoharan, D; Manoharan, R



Hantavirus Pulmonary Syndrome (HPS)  


... FAQ: Non-U.S. Visitors to Yosemite Outbreak of Hantavirus Infection in Yosemite National Park As of November ... to... Añadir en... Favorites Delicious Digg Google Bookmarks Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ...


Cholestasis in Reye's Syndrome.  

National Technical Information Service (NTIS)

Hyperbilirubinemia of generally a modes degree can be present in Reye's syndrome (encephalopathy and fatty accumulation in viscera in children), especially in the terminal stages. Its pathogenesis has not been fully elucidated. The purpose of this report ...

F. G. Mullick R. E. Brown



Capsular warning syndrome.  


We present a case of a 72-year-old man who presented with fluctuating right-sided weakness and numbness. This was characterised by episodic sudden onset weakness with resolution of symptoms in between. His symptoms and signs were becoming persistent despite the addition of dual antiplatelet therapy. The history we describe is classical of capsular warning syndrome. The patient went on to have further definitive neuroimaging which revealed a pontine infarct, rather than the expected capsular infarct. We discuss the importance of capsular warning syndrome, the proposed pathophysiological mechanisms and different locations of infarction in previous cases of capsular warning syndrome. We also discuss the lack of consensus (within the literature) in treatment options which are used to try and prevent a completed stroke occurring in cases of capsular warning syndrome. PMID:23853023

Nadarajan, Vivek; Adesina, Tolu



Metabolic syndrome and cancer.  


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

Pothiwala, Pooja; Jain, Sushil K; Yaturu, Subhashini



Lambert-Eaton syndrome  


... this syndrome, substances produced by the immune system attack nerve cells. This makes nerves cells unable to release enough of a chemical called acetylcholine. This chemical transmits impulses between nerves ...


Pierre Robin syndrome  


... Molen AB. What is 'Pierre Robin sequence?' J Plastic Reconstruct Aesthetic Surg . 2009;62:1555-1558. Syndromes with oral manifestations. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 18th ed. Philadelphia, ...


Toxic shock syndrome  


... by a toxin produced by certain types of Staphylococcus bacteria. A similar syndrome, called toxic shock-like ... men. Risk factors include: Recently having a baby Staphylococcus aureus ( S. aureus ) infection, commonly called a Staph infection ...


Irritable Bowel Syndrome  

MedlinePLUS Videos and Cool Tools

... of IBS. Irritable bowel syndrome is an intestinal disorder that can cause abdominal pain and changes in ... have a bowel movement about an hour after eating. This urge is stronger after meals that are ...


The cone dysfunction syndromes.  


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

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



Bernard-Soulier Syndrome  


... should be performed by a specialist at a hemophilia treatment centre. In people with Bernard-Soulier syndrome: The ... Hemophilia How Do You Get Hemophilia? Severity of Hemophilia Symptoms & Diagnosis Treatment Hemophilia in Pictures FAQs Resources Carriers and Women ...


[Amniotic band syndrome].  


Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in the larger entity of limb body wall complex (LBWC). Congenital ring constriction, amniotic band disruption complex, or congenital transverse defect are some of the numerous synonyms defining this malformative syndrome, showing either its clinical variability, or the uncertainties surrounding its etiology. Indeed, several pathogenic theories have been successively opposed, bringing about a certain degree of confusion. Recent experimental genetic studies could unify the different fetal malformations. The surgical treatment actually applies only to the aftereffects of the intrauterine phenomenon, until antenatal diagnosis followed by in utero surgery will be perfected. PMID:18948051

Poeuf, B; Samson, P; Magalon, G



Treatment of poems syndrome  

Microsoft Academic Search

Opinion statement  (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome is a rare multisystemic paraneoplastic\\u000a syndrome driven by an underlying plasma cell dyscrasia. More than 95% of patients will have monoclonal lambda sclerotic plasmacytoma(\\u000a s) or bone marrow infiltration. Recognition of the complex of a combination of peripheral neuropathy, organomegaly, endocrinopathy,\\u000a monoclonal plasmaproliferative disorder, skin changes, sclerotic bone lesions, Castleman

Angela Dispenzieri; Morie A. Gertz



Celiac artery compression syndrome.  


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

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



Lennox-Gastaut Syndrome  

Microsoft Academic Search

Lennox-Gastaut syndrome is a type of childhood epilepsy that has enormous detrimental effects on the patient's physical and developmental health and can also take a dramatic toll on the well-being of the patient's family. Lennox-Gastaut syndrome is characterized by variable etiology, multiple types of intractable seizures, and cognitive impairment in most patients. It is one of the most difficult epilepsy

Patricia K. Crumrine



Ketonuria and HELLP syndrome.  


We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management. PMID:21686464

Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris



Ketonuria and HELLP syndrome  

PubMed Central

We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management.

Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris



Guillain-Barr? syndrome  

PubMed Central

Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several factors are useful in predicting the outcome of these patients.???Keywords: Guillain-Barré syndrome

Seneviratne, U.



Parkinsonism Plus Syndromes  

Microsoft Academic Search

\\u000a Parkinson’s plus syndrome is a term that refers to disorders of movement and cognition that are often confused with Parkinson’s\\u000a disease. The three main disorders are progressive supranuclear palsy (PSP), multisystem atrophy (MSA), and corticobasal degeneration\\u000a (CBD). These syndromes are pathologically diverse encompassing a number of distinct proteinopathies but have in common clinical\\u000a features of movement abnormality, cognitive decline, a

Fiona M. Molloy; Daniel G. Healy


Hemiparkinsonism-hemiatrophy syndrome.  


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

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



The Greig cephalopolysyndactyly syndrome  

Microsoft Academic Search

The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9\\/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly,

Leslie G Biesecker



Williams-Beuren Syndrome  

Microsoft Academic Search

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

Stephen W. Scherer; Lucy R. Osborne


Juvenile primary fibromyalgia syndrome  

Microsoft Academic Search

Juvenile primary fibromyalgia syndrome (JPFS) is a common musculoskeletal pain syndrome of unknown etiology characterized\\u000a by widespread persistent pain, sleep disturbance, fatigue, and the presence of multiple discrete tender points on physical\\u000a examination. Other associated symptoms include chronic anxiety or tension, chronic headaches, subjective soft tissue swelling,\\u000a and pain modulated by physical activity, weather, and anxiety or stress. Research and

Kelly K. Anthony; Laura E. Schanberg



The Myelodysplastic Overlap Syndromes  

Microsoft Academic Search

\\u000a The myelodysplastic overlap syndromes encompass a group of clonal neoplastic bone marrow disorders, which, at the time of\\u000a presentation, demonstrate clinical, morphological or laboratory findings in keeping with both the myelodysplastic syndromes\\u000a (MDS) and the myeloproliferative neoplasms (MPN) [1]. Cases present along a continuum, ranging from those with a predominant\\u000a dysplastic phenotype to others with predominant features of myeloproliferation such

W. Ingram; G. J. Mufti


Down syndrome in Israel  

Microsoft Academic Search

The incidence of Down syndrome was studied in Jerusalem for the years 1964-1970 showing an overall incidence rate of 2.43 per 1,000 live births. A National Down Syndrome Register was established in 1978 and data on annual incidence and mortality rates from 1979-1997 is presented. The incidence in 1997 was 1.0 per 1,000 live births, but 2.32 per 1,000, when

Joav Merrick



Fragile X syndrome  

Microsoft Academic Search

Fragile X syndrome is the most common form of inherited mental retardation. It is seen in people of all nationalities and\\u000a in all areas of the world. Fragile X syndrome can be a devastating condition, as many boys are severely retarded and require\\u000a multiple services. Treatment involves behaviour management techniques, appropriate school placement, community support for\\u000a the family, and careful

John P. Phillips; Gregory A. Wilson



[Erasmus syndrome: case report].  


Erasmus' syndrome involves the association of systemic scleroderma and exposure to silica particles with or without silicosis. The authors report the observation of a miner with a history of professional silicosis resulting in pulmonary fibrosis. Twenty-five years later, the patient consulted for dysphagia associated with inflammatory arthralgia, cutaneous sclerosis extended to the face and limbs, sclerodactyly and Raynaud's phenomenon. The diagnosis of scleroderma was confirmed and Erasmus' syndrome was retained. PMID:19306779

Ajlani, H; Meddeb, N; Sahli, H; Sellami, S



Abdominal compartment syndrome  

PubMed Central

Intra-abdominal hypertension (IAH) associated with organ dysfunction defines the abdominal compartment syndrome (ACS). Elevated intra-abdominal pressure (IAP) adversely impacts pulmonary, cardiovascular, renal, splanchnic, musculoskeletal/integumentary, and central nervous system physiology. The combination of IAH and disordered physiology results in a clinical syndrome with significant morbidity and mortality. The onset of the ACS requires prompt recognition and appropriately timed and staged intervention in order to optimize outcome. The history, pathophysiology, clinical presentation, and management of this disorder is outlined.

Bailey, Jeffrey; Shapiro, Marc J



Short Anagen Hair Syndrome  

PubMed Central

Short anagen syndrome (SAS) is a condition in which hair does not grow long. It usually perceived by parents in children around 2-4 years of age. It is a benign disease of the hair cycle. The condition is relevant from the standpoint of differential diagnosis with loose anagen syndrome. We report a case of SAS in a Hispanic 3-year-old girl.

Herskovitz, Ingrid; de Sousa, Isabel Cristina Valente Duarte; Simon, Jessica; Tosti, Antonella




PubMed Central

SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed.

Singh, Gurmeet



Nasopalpebral lipoma coloboma syndrome  

PubMed Central

Nasopalpebral lipoma–coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

Suresh, Babu N; Raviprakash, D; Kumar, Ravi



Lynch Syndrome Genes  

Microsoft Academic Search

Since the discovery of the major human genes with DNA mismatch repair (MMR) function in 1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly linked to susceptibility of hereditary nonpolyposis colorectal cancer (HNPCC)\\/Lynch syndrome. Among these, PMS2 mutations are associated with diverse clinical features, including those of the Turcot syndrome. Two additional MMR genes, MLH3 and PMS1,

Päivi Peltomäki



Popliteal artery entrapment syndrome  

PubMed Central

Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

O'Leary, D.P.; O'Brien, G.; Fulton, G.



Jaffe-Campanacci syndrome.  


This case report describes the clinical, radiological and histopathological features of the Jaffe-Campanacci syndrome as seen in a 6-year-old Qatari male patient who was initially misdiagnosed as a case of systemic neurofibromatosis. Our case has all the diagnostic stigmata of Jaffe-Campanacci syndrome as described in the literature and these include cafe au lait macules, skeletal deformities and multiple histologically confirmed non-ossifying fibromas of the long bones. PMID:15756363

Al-Rikabi, Ammar C; Ramaswamy, Jyothi C; Bhat, Venkatraman V



Toxic Shock Syndrome  

PubMed Central

Eight cases of toxic shock syndrome, confirmed by Center for Disease Control criteria, involved women who were menstruating and were tampon users. Each patient had severe febrile illness with rash, associated hypotension, renal and liver function abnormalities, pharyngitis and vaginitis. An examination of the literature indicates that cases that were reported as adult Kawasaki disease may actually have been toxic shock syndrome. ImagesFigure 1.Figure 2.

Tanner, Martha H.; Pierce, Barbara J.; Hale, DeVon C



Solitary rectal ulcer syndrome  

Microsoft Academic Search

Background  Although the clinicopathologic features of solitary rectal ulcer syndrome (SRUS) are well documented, the heterogeneous endoscopic appearance of lesions that the syndrome produces and its rare incidence may make for clinical confusion.Methods  Together with a literature review, we describe the variety of lesions experienced in our hospital with a series of endoscopic and histological illustrations and emphasize the diagnostic dilemma both

Jy-Ming Chiang; Chung-Rong Changchien; Jim-Ray Chen



Goldenhar's syndrome: case report.  


A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed. PMID:12625694

Adeoye, A O



Parsonage-Turner Syndrome  

Microsoft Academic Search

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

Joseph H. Feinberg; Jeffrey Radecki



Marfan's syndrome: an overview.  


Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include 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 Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

Yuan, Shi-Min; Jing, Hua



Microdeletion 3q syndrome.  


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

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



Neurocutaneous vascular syndromes.  


There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research. PMID:20582592

Puttgen, Katherine B; Lin, Doris D M



Infections in myelodysplastic syndromes  

PubMed Central

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

Toma, Andrea; Fenaux, Pierre; Dreyfus, Francois; Cordonnier, Catherine



Insulin resistance syndrome.  


Insulin resistance syndrome, also referred to as the metabolic syndrome, affects 1 in 3 to 4 adults older than 20 years. This syndrome consists of a clustering of metabolic abnormalities that put people at risk for type 2 diabetes and cardiovascular disease. These clinical abnormalities include dyslipidemia, specifically elevated triglycerides and low high-density lipoprotein cholesterol, elevated glucose, and hypertension. The incidence of this morbid syndrome is expected to continue to grow both in the United States and worldwide, and thus is of tremendous interest to nurses seeking to measure their impact on patient outcomes. The key lifestyle interventions essential to treating this syndrome are weight loss and physical activity. The purpose of this article is to (1) describe the insulin resistance syndrome and discuss the current focuses for inquiry in major outcome areas (eg, mortality, morbidity, costs); (2) describe the status of specific lifestyle interventions (weight loss, diet, and exercise); (3) identify outcomes that nurses could measure to assess their impact on patient care; and (4) identify areas for future nursing research. PMID:15495894

Fletcher, Barbara; Lamendola, Cindy


Metabolic syndrome and sleep apnea.  


Metabolic syndrome is a disorder characterized by abdominal obesity, hypertension, increased triglycerides, decreased HDL cholesterol and increased blood glucose. Accumulating evidence strongly indicates that insulin resistance and an increased amount of abdominal fat are the pathogenic factors for the characteristics of metabolic syndrome. The metabolic syndrome is characterized by an increased risk for the development of cardiovascular disease and type 2 diabetes mellitus. Studies indicate that sleep apnea may be a manifestation of the metabolic syndrome. It has also been suggested that the metabolic syndrome or "syndrome X" should also comprise obstructive sleep apnea and should then be called syndrome "Z". It appears that obstructive sleep apnea and the metabolic syndrome are characterized by the same pathophysiologic environment, which increases the risk for the development of cardiovascular disease. The increased amount of visceral fat and the accompanying insulin resistance seem to be the main characteristics responsible for the development of obstructive sleep apnea and the metabolic syndrome. PMID:18923660

Kostoglou-Athanassiou, I; Athanassiou, P



Metabolic syndrome and sleep apnea  

PubMed Central

Metabolic syndrome is a disorder characterized by abdominal obesity, hypertension, increased triglycerides, decreased HDL cholesterol and increased blood glucose. Accumulating evidence strongly indicates that insulin resistance and an increased amount of abdominal fat are the pathogenic factors for the characteristics of metabolic syndrome. The metabolic syndrome is characterized by an increased risk for the development of cardiovascular disease and type 2 diabetes mellitus. Studies indicate that sleep apnea may be a manifestation of the metabolic syndrome. It has also been suggested that the metabolic syndrome or "syndrome X" should also comprise obstructive sleep apnea and should then be called syndrome "Z". It appears that obstructive sleep apnea and the metabolic syndrome are characterized by the same pathophysiologic environment, which increases the risk for the development of cardiovascular disease. The increased amount of visceral fat and the accompanying insulin resistance seem to be the main characteristics responsible for the development of obstructive sleep apnea and the metabolic syndrome.

Kostoglou-Athanassiou, I; Athanassiou, P



Acute radiation syndrome and chronic radiation syndrome.  


Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) may be induced by smaller than 1Gy radiation doses or after a mild form of ARS. Prophylaxis and treatment suggestions are described. In cases of ARS, a large part of the exposed population after proper medical care may survive, while without medical care this part of the population will be lost. Prophylaxis may also save another part of the population. PMID:23570025

Grammaticos, Philip; Giannoula, Evanthia; Fountos, George P


Lemierre's syndrome--the syndrome quite forgotten.  


A 17 year old male presented with seizures, headache, and fever and left chronic suppurative otitis media. A 35 year old male presented with headache, giddiness, vomiting, pain in eyes, diplopia and right chronic suppurative otitis media. Brain imaging in both revealed thrombosis of lateral and sigmoid sinus and also of internal jugular vein on the left and right side respectively. A diagnosis of Lemierre's syndrome was made in both. They were treated with antibiotics and anticoagulants, and they responded to treatment. We want to report this case as we feel, that with the advent of the antibiotic era, this syndrome has become rare; and so "quite forgotten" or overlooked, by many physicians. PMID:22799122

Krishna, Kavita; Diwan, A G; Gupt, Ankur



Restless Legs Syndrome -- Causes and Symptoms  


Restless Legs Syndrome - Causes & Symptoms Causes What causes of restless legs syndrome varies from person to person. In some cases ... with brain cell communication that can lead to restless legs syndrome. If you think you have restless legs syndrome ...


Genetics Home Reference: Holt-Oram syndrome  


... use for Holt-Oram syndrome? Atriodigital dysplasia Atrio-digital syndrome Cardiac-limb syndrome Heart-hand syndrome, type ... Hill National Center for Biomedical Communications U.S. National Library of Medicine , National Institutes of Health Department of ...


Genetics Home Reference: Beckwith-Wiedemann syndrome  


... Beckwith-Wiedemann syndrome? BWS EMG syndrome Exomphalos-Macroglossia-Gigantism Syndrome Wiedemann-Beckwith syndrome (WBS) For more information ... duplication ; egg ; embryonic ; epigenetic ; expressed ; gene ; gene expression ; gigantism ; hemihyperplasia ; hernia ; hypoglycemia ; imprinting ; inheritance ; kidney ; liver cancer ; ...


Euthyroid Sick Syndrome in Acute Ischemic Syndromes  

Microsoft Academic Search

The purposes of this study were to assess the occurrence of euthyroid sick syndrome in patients with acute myocardial infarction (AMI) or unstable angina (UA), and the relationship with ?-blocker or thrombolytic therapy. Plasma triiodothyronine (T3), reverse T3 (rT3), free T3 (FT3), thyroxine (T4), free T4 (FT4), thyroid-stimulating hormone (TSH), thyroxine-binding globulin (TBG), and albumin (ALB) levels were determined in

H. N. Pavlou; P. A. Kliridis; A. A. Panagiotopoulos; C. P. Goritsas; P. J. Vassilakos



The Greig cephalopolysyndactyly syndrome.  


The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G



Noonan syndrome: a case report.  


In 1930 Ullrich and in 1938 Turner described females with a syndrome of short stature, sexual infantilism and a pattern of characteristic minor anomalies including pterygium colli. This syndrome named initially as the Urlich-Turner syndrome, was later called Noonan syndrome. It was later shown that the Ullrich-Turner Syndrome (UTS) is caused by monosomy X or a structural abnormality of the second X-chromosome. Presented here is a case of Noonan Syndrome in a four and half year old boy. PMID:11692827

Nirmal, T; Muthu, M S; Arranganal, P



Do you know this syndrome?  


Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes



Juvenile polyposis syndrome  

PubMed Central

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

Brosens, Lodewijk AA; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A



Plant defense syndromes.  


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

Agrawal, Anurag A; Fishbein, Mark



Nevoid basal cell carcinoma syndrome (Gorlin syndrome)  

PubMed Central

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

Lo Muzio, Lorenzo



Delusional Misidentification Syndromes: A Descriptive Study  

Microsoft Academic Search

Twenty-three patients with one or more delusional misidentification syndromes were studied. The majority of the subjects were females and the Capgras syndrome was the most common delusional misidentification syndrome in our sample. The Capgras syndrome cases were significant older than the Fregoli syndrome cases. Schizophrenia and schizo-affective psychosis were significantly associated with Fregoli syndrome. Discriminant function analysis was carried out

Femi Oyebode; Rhona Sargeant



Alien hand syndrome in Parry-Romberg syndrome.  


A pediatric patient with diagnosis of Parry-Romberg syndrome, or progressive hemifacial atrophy, presented with new-onset unilateral alien hand syndrome, which was attributed to focal progressive atrophy and gliosis in the contralateral thalamus observed on serial neuroimaging. This case illustrates not only the clinical-radiographic correlation between alien hand syndrome and contralateral thalamic lesion, but also involvement of deep gray structure in Parry-Romberg syndrome causing a rare movement disorder. PMID:20304333

Takenouchi, Toshiki; Solomon, Gail E



Syndromic diarrhea/Tricho-hepato-enteric syndrome  

PubMed Central

Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la transmission autosomique récessive. La forme typique associe 5 signes cliniques: une diarrhée grave rebelle nécessitant dans la majorité des cas une nutrition parentérale du fait de la malnutrition, une dysmorphie avec un front large et bombé, une racine du nez large et un hypertélorisme, des anomalies des cheveux qui sont fragiles, cassants, incoiffables et qualifiés de « laineux », un retard de croissance intra utérine et des anomalies de l’immunité à type de déficit en immunoglobuline ou d’absence de réponse aux antigènes vaccinaux. Des anomalies de deux protéines peuvent être à l’origine du syndrome SD/THE: TTC37, une protéine à motif TPR et SKIV2L, une hélicase à ARN, toutes 2 étant des constituants du complexe SKI humain. Le complexe SKI est un co-facteur de l’exosome cytoplasmique qui assure la dégradation des ARN aberrants ou exogènes. Le diagnostic est d’abord clinique puis confirmé par le séquençage des gènes TTC37 et SKIV2L. Le diagnostic différentiel avec les autres formes de diarrhées intraitables est fait grâce aux analyses anatomopathologiques qui montrent dans les autres formes, des lésions spécifiques. La prise en charge clinique repose sur la nutrition parentérale et la supplémentation en immunoglobuline si nécessaire. Un certain nombre d’enfants peuvent être sevrés de la nutrition parentérale et des supplémentations en immunoglobulines. En cas d’atteinte hépatique, celle-ci peut être sévère et conduire au décès. Même avec une prise en charge optimale, les enfants présentent une petite taille et, dans la moitié des cas, un retard mental modéré. Disease name/synonyms – Syndromic diarrhea – Phenotypic diarrhea – Tricho-hepato-enteric syndrome – Intractable diarrhea of infancy with facial dysmorphism &#x



Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

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

Mason, Linda; Cunningham, Cliff



Prader-Willi syndrome and mosaic Turner's syndrome.  


We present a female with both Prader-Willi syndrome and Turner's syndrome, a combination not previously reported. We review her clinical presentation and discuss her growth pattern, mental development, and puberty, in relation to her mosaic Turner and Prader-Willi syndromes. PMID:16128248

Monzavi, Roshanak; Fefferman, Richard A; Pitukcheewanont, Pisit



Fisher syndrome and Bickerstaff brainstem encephalitis (Fisher–Bickerstaff syndrome)  

Microsoft Academic Search

Since identification of the autoantibodies in Fisher syndrome, remarkable progress has been made in our understanding of that syndrome and related conditions. Because of the similarities in the clinical presentations of it and Bickerstaff brainstem encephalitis, opinions differ as to whether the two are distinct or related syndromes and whether the lesions responsible for ophthalmoplegia, ataxia and areflexia are in

Nobuhiro Yuki



[Multiple autoimmune syndromes].  


The possibility of three or more autoimmune diseases occurring in the same patient cannot be fortuitous and suggests a pathogenic relationship between each of them. In the light of 4 personal cases, the authors have recorded 87 reports of such associations in the literature, an analysis of which leads them to propose a classification of three types of multiple autoimmune syndrome. The grouping of these syndromes under a single heading should make the research and analysis of these morbid associations easier. Moreover, the classification adopted by the authors allows a more precise definition of patients with at least two autoimmune diseases and so helps to recognize the onset of a third autoimmune disease at a later date. Multiple autoimmune syndromes can be classified in 3 groups according to the prevalence of their associations one with another. Type I comprises myasthenia, thymoma, polymyositis and giant cell myocarditis, this association having a single pathogenic mechanism. Type II includes the Sjögren's syndrome, rhumatoid arthritis, primary biliary cirrhosis, scleroderma and autoimmune thyroid disorders. Type III groups together 10 autoimmune diseases (autoimmune thyroid disease, myasthenia and/or thymoma, Sjögren's syndrome, pernicious anaemia, idiopathic thrombocytopaenic purpura, Addison's disease, insulin-dependent diabetes, vitiligo, autoimmune haemolytic anaemia, systemic lupus erythematosus) for which a genetic predisposition (phenotype HLA B8 and/or DR3 or DR5) seems to be an important factor. PMID:3059902

Humbert, P; Dupond, J L



[Paraneoplastic rheumatic syndromes].  


Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, Raynaud¥s phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis. PMID:24007962

Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia


Kabuki syndrome revisited.  


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

Bokinni, Yemisi



Familial Sneddon's syndrome.  


A syndrome associating Livedo Reticularis (LR) with Cerebrovascular disease (CVD) was described, in 1965, by Sneddon. It occurs sporadically, but a few familial cases of Sneddon's Syndrome (SS) have been reported, like these 3 cases that represent one of the largest number among siblings. We studied three male brothers, aged 28, 37 and 42 years, with CVD (ischaemic stroke in 2 patients and cerebral haemorrhages in the third) and their sister with no CVD. All patients presented with long lasting Livedo Reticularis, extending beyond the lower limbs. Skin biopsy on the centre of the reticular pattern showed, only in the second patient, partial endothelium detachment in dermo-hypodermic blood vessels. The males also had accesses of Livedoid Vasculitis (LV), in which a skin biopsy showed obliteration of several upper dermal vessels with hialin thrombi and a very scarce inflammatory infiltrate. Complementary studies, with an extensive investigation on pro-coagulation/pro-thrombotic features including antiphospholipid antibodies, were repeatedly negative. Their non-consanguineous parents were not affected, but among these kindred of 9 individuals, apart from the 4 patients reported above, LR and LV were present in two other brothers and also in an aunt and uncle, suggesting autosomal dominant pattern of inheritance, with incomplete penetrance. The relationship between Sneddon's Syndrome and Antiphospholipid Antibody Syndrome is controversial. The present cases, having repeatedly negative antiphospholipid antibodies, support the classification of Sneddon's Syndrome as an independent nosological entity. PMID:12804991

Mascarenhas, Rosa; Santo, Gustavo; Gonçalo, Margarida; Ferro, Maria Antonia; Tellechea, Oscar; Figueiredo, Américo


Alport's Syndrome in Pregnancy.  


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

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



Genetics Home Reference: Alport syndrome  


... disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ... protein ; proteinuria ; recessive ; renal ; renal disease ; retina ; sensorineural ; sensorineural hearing loss ; sex chromosomes ; stage ; syndrome ; tissue You may find ...


Biliary hypoplasia in Williams syndrome.  


Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported. PMID:16632669

O'Reilly, K; Ahmed, S F; Murday, V; McGrogan, P



Biliary hypoplasia in Williams syndrome  

PubMed Central

Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported.

O'Reilly, K; Ahmed, S F; Murday, V; McGrogan, P



Genetics Home Reference: Cantú syndrome  


... from one affected parent. Where can I find information about diagnosis or management of Cantú syndrome? These resources address the diagnosis ... Testing Registry: Hypertrichotic osteochondrodysplasia You might also find ... or management of Cantú syndrome in Educational resources and Patient ...


Genetics Home Reference: Genitopatellar syndrome  


... right halves of the brain (agenesis of the corpus callosum). People with genitopatellar syndrome may have distinctive facial ... genitopatellar syndrome? agenesis ; autosomal ; autosomal dominant ; cell ; clubfoot ; corpus callosum ; cryptorchidism ; DNA ; enzyme ; gene ; histone ; hypoplasia ; hypotonia ; inheritance ; ...


Sudden Infant Death Syndrome (SIDS)  


... Parents > General Health > Your Kid's Sleep > Sudden Infant Death Syndrome (SIDS) Print A A A Text Size ... answers is part of what makes sudden infant death syndrome (SIDS) so frightening. SIDS is the leading ...


Sudden Infant Death Syndrome (SIDS)  


Sudden infant death syndrome (SIDS) Basics In-Depth Expert Answers Resources Reprints A single copy of this article may be reprinted for personal, noncommercial use only. Sudden infant death syndrome (SIDS) By Mayo Clinic staff Original Article: ...


Tics, Tourette Syndrome, and OCD  


... OCD Health Issues Listen Tics, Tourette Syndrome, and OCD Article Body Tics are rapid, repetitive movements or ... shown that chronic tic disorders, Tourette syndrome, and OCD may stem from some common factors, and a ...


Motorists Vestibular Disorientation Syndrome Revisited.  

National Technical Information Service (NTIS)

We present a framework within which to understand the causes of chronic susceptibility to disorientation and how it may be resolved. Motorists Disorientation Syndrome is given as an example disorientation syndrome which may occur without sensory or marked...

M. A. Gresty T. Ohlmann



Genetics Home Reference: Down syndrome  


... of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein ... or sixties. Read more about Alzheimer disease and celiac disease . How common is Down syndrome? Down syndrome occurs ...


[Compartment syndrome after cardiopulmonary bypass].  


Compartment syndrome of the lower leg is an occasional complication of prolonged ischemia and reperfusion. We present a patient with compartment syndrome of the ipsilateral thigh after femoral arterial and venous cannulation for cardiopulmonary bypass. PMID:20685185

Guillen, G; Llorente, A M; Maseda, R; Belda, S; Olmedilla, M



Genetics Home Reference: Oculofaciocardiodental syndrome  


... abnormally small teeth, misaligned teeth, and defective tooth enamel. How common is oculofaciocardiodental syndrome? OFCD syndrome is ... cardio- ; cataract ; cell ; chromosome ; cleft palate ; corepressor ; embryonic ; enamel ; gene ; glaucoma ; incidence ; mitral valve ; mitral valve prolapse ; ...


Tourette syndrome and the eye  

Microsoft Academic Search

BackgroundTourette syndrome is a stress-sensitive neurologic disorder characterized by involuntary vocal and motor tics. Both Tourette syndrome and the medical treatment for this condition can affect the eye.

Susan Kovacich



Genetics Home Reference: Sotos syndrome  


... names do people use for Sotos syndrome? Cerebral gigantism Sotos sequence Sotos' syndrome For more information about ... autosomal dominant ; cancer ; cell ; chromosome ; contiguous ; deletion ; gene ; gigantism ; hyperactivity ; hypotonia ; incidence ; inheritance ; jaundice ; kidney ; motor ; muscle ...


Electrocardiographic manifestations of Wellens' syndrome  

Microsoft Academic Search

Wellens' syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending (LAD) artery stenosis. The syndrome is also referred to as LAD coronary T-wave syndrome. Syndrome criteria include T-wave changes plus a history of anginal chest pain without serum marker abnormalities; patients lack Q waves and significant ST-segment elevation; such patients show normal precordial R-wave

Joseph Rhinehardt; William J. Brady; Andrew D. Perron; Amal Mattu



Ramsay Hunt syndrome.  


Ramsay Hunt syndrome is defined as herpes zoster oticus associated with an acute peripheral facial nerve paresis and quite often with other cranial nerve lesions. The combination of motor, sensory and autonomic involvement leads to a variety of neurological damage patterns, i. e. facial muscle paresis, hearing and balance disorders, sensory problems and disturbances of taste as well as lacrimal and nasal secretion. Additional variability of the clinical picture of Ramsay Hunt syndrome is produced by varying patterns of skin involvement explained by individual anastomoses between cranial and cervical nerves. Knowledge of these findings and an early diagnosis of Ramsay Hunt syndrome are important as prognosis of cranial nerve damage depends on the time at which acyclovir-corticosteroid therapy is started. PMID:22429645

Wagner, Gunnar; Klinge, Harald; Sachse, Michael Max



Therapy of Marfan syndrome.  


Marfan syndrome is a common inherited disorder of connective tissue caused by deficiency of the matrix protein fibrillin-1. Effective surgical therapy for the most life-threatening manifestation, aortic root aneurysm, has led to a nearly normal lifespan for affected individuals who are appropriately recognized and treated. Traditional medical therapies, such as beta-adrenergic receptor blockade, are used to slow pathologic aortic growth and decrease the risk of aortic dissection by decreasing hemodynamic stress. New insights regarding the pathogenesis of Marfan syndrome have developed from investigation of murine models of this disorder. Fibrillin-1 deficiency is associated with excess signaling by transforming growth factor beta (TGFbeta). TGFbeta antagonists have shown great success in improving or preventing several manifestations of Marfan syndrome in these mice, including aortic aneurysm. These results highlight the potential for development of targeted therapies based on discovery of disease genes and interrogation of pathogenesis in murine models. PMID:17845137

Judge, Daniel P; Dietz, Harry C



Atypical Cogan's Syndrome  

PubMed Central

Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness.

Queiros, Joao; Maia, Sofia; Seca, Mariana; Friande, Antonio; Araujo, Maria; Meireles, Angelina



Endogenous opioid abstinence syndrome.  


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

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


Lemierre's syndrome (necrobacillosis)  

PubMed Central

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

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



[Orthostatic intolerance syndromes].  


In patients with an orthostatic intolerance, the hemodynamic response to standing, may identify an abnormality know as postural orthostatic tachycardia syndrome or orthostatic hypotension, that can often be treated without further testing. When the response to standing is normal, tilt-table testing may be useful in making the diagnosis of vasovagal syncope or postural orthostatic tachycardia syndrome and guiding treatment. In evaluating the results of tilt-table testing, an important consideration is the distinction between vasovagal syncope, and the dysautonomic response to tilt characterized by a gradual and progressive decrease in blood pressure that leads to syncope. Current practice patterns suggest that beta blockers, fludrocortisone, and midodrine are commonly used to treat patients with vasovagal syncope. These also suggest that patients with the postural orthostatic tachycardia syndrome, and with the dysautonomic response, are better treated with fludrocortisone and midodrine. PMID:11565347

Gónzalez-Hermosillo, J A


Parsonage-Turner Syndrome  

PubMed Central

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

Radecki, Jeffrey



Inherited Colorectal Cancer Syndromes  

PubMed Central

Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.

Kastrinos, Fay; Syngal, Sapna



CHARGE Syndrome: An Educators' Primer  

Microsoft Academic Search

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 highlight the implications for the inclusive education of children and youth

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



Sweet's syndrome and subacute thyroiditis  

PubMed Central

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

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



Cardiofaciocutaneous syndrome: a rare entity.  


The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome. PMID:22837569

Pavithra, S; Mallya, H; Pai, G S



Oesophageal atresia and Down syndrome  

Microsoft Academic Search

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

Sebastiano Bianca; Marco Bianca; Giuseppe Ettore



Joint impingement syndrome: clinical features  

Microsoft Academic Search

Joint impingement is a painful syndrome caused by the friction of joint tissues, which is both the cause and the effect of altered joint biomechanics. From the anatomical and clinical viewpoints, these syndromes are classified as bone impingement, soft tissue impingement and entrapment neuropathy, depending on what joint portion impinges on the others. We considered the most important impingement syndromes

Andrea Billi; Alessia Catalucci; Antonio Barile; Carlo Masciocchi



Genetics Home Reference: RAPADILINO syndrome  


... symptoms of the condition. Where can I find information about diagnosis or management of RAPADILINO syndrome? These resources address the diagnosis ... Testing Registry: Rapadilino syndrome You might also find information on ... or management of RAPADILINO syndrome in Educational resources and Patient ...


Genetics Home Reference: Maffucci syndrome  


... disorder in their family. Where can I find information about diagnosis or management of Maffucci syndrome? These resources address the diagnosis ... Testing Registry: Maffucci syndrome You might also find information on the ... or management of Maffucci syndrome in Educational resources and Patient ...


Genetics Home Reference: Cockayne syndrome  


... symptoms of the condition. Where can I find information about diagnosis or management of Cockayne syndrome? These resources address the diagnosis ... Management of Cockayne Syndrome You might also find information on the diagnosis or management of Cockayne syndrome in Educational resources and Patient ...


Genetics Home Reference: Weaver syndrome  


... from one affected parent. Where can I find information about diagnosis or management of Weaver syndrome? These resources address the diagnosis ... Testing Registry: Weaver syndrome You might also find information on the diagnosis or management of Weaver syndrome in Educational resources and Patient ...


Genetics Home Reference: Horner syndrome  


... syndrome have been identified. Where can I find information about diagnosis or management of Horner syndrome? These resources address the diagnosis ... of Ocular Disease Management You might also find information on the diagnosis or management of Horner syndrome in Educational resources and Patient ...


Metabolic syndrome and oxidative stress  

Microsoft Academic Search

Metabolic syndrome is an obesity-associated collection of disorders, each of which contributes to cardiovascular risk. Metabolic syndrome is also associated with overproduction of reactive oxygen species (ROS). ROS contribute to the interrelationship between metabolic syndrome and salt-sensitive hypertension, which are both caused by obesity and excess salt consumption and are major threats to health in developed countries. ROS can induce

Katsuyuki Ando; Toshiro Fujita



An Overview of Down Syndrome.  

ERIC Educational Resources Information Center

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

Pueschel, Siegfried M.


A Journey with Klinefelter Syndrome  

ERIC Educational Resources Information Center

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

Cover, Virginia Isaacs



Le syndrome des grosses mains  

Microsoft Academic Search

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

M. Arrault; F. Gaouar; S. Vignes



Down Syndrome: A Cardiovascular Perspective  

ERIC Educational Resources Information Center

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

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



A new neurocutaneous syndrome: nevus sebaceus syndrome.  


We describe a case of nevus sebaceus syndrome characterized by a linear sebaceous nevus, extending on the left half of the face from forehead to lower neck, including the auricle; alopecia on the temporoparietal region; generalized hypotonia; insufficiency of eyes in following moving objects and insufficiency in controlling the head; lipodermoid cysts in the left and right eyes; bilateral conjunctival masses; corneal vascularization in the right eye; coloboma of the left eyelid and right optic disc. This is a rare case of a sebaceous nevus occurring concomitantly with optical and central nervous system abnormalities. PMID:8519188

Küçüködük, S; Ozsan, H; Turanli, A Y; Dinç, H; Selçuk, M



Treacher Collins Syndrome  

PubMed Central

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

Chang, Christopher C.; Steinbacher, Derek M.



Radial tunnel syndrome.  


Radial tunnel syndrome is a pain syndrome resulting from compression of the posterior interosseous nerve at the proximal forearm. It has no specific radiologic or electrodiagnostic findings. Treatment should be started conservatively; if not successful, surgical treatment is indicated. The posterior interosseous nerve may be explored through dorsal or anterior approaches. All the potential sites of entrapment should be released, including complete release of the superficial head of the supinator muscle. Surgical treatment is generally successful, but patients who have associated lateral epicondylitis or those who are involved in workers' compensation claims have less successful outcomes. PMID:23026469

Naam, Nash H; Nemani, Sajjan



Painful Bladder Syndrome  

Microsoft Academic Search

\\u000a Painful bladder syndrome\\/interstitial cystitis (PBS\\/IC), also known as bladder pain syndrome (BPS\\/IC), is primarily based\\u000a on symptoms of urgency, frequency, and pain in the bladder and\\/or pelvis. Its etiology is not known and clinical characteristics\\u000a vary among patients. Early recognition of BPS\\/IC is very important because the symptoms are quite disabling, affecting quality\\u000a of life and resulting in patients being

Mauro Cervigni; Franca Natale; Albert Mako; Loredana Nasta


Persistent mullerian duct syndrome  

PubMed Central

Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient. This syndrome is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male patient. In this article we present the USG and MRI features of a case of PMDS with bilateral cryptorchidism and left sided inguinal hernia, containing the uterus and fallopian tubes.

Renu, Divya; Rao, B Ganesh; Ranganath, K; Namitha



[Pulmonary-renal syndrome].  


The pulmonary-renal syndrome is defined as a combination of diffuse alveolar hemorrhage and glomerulonephritis. The coexistence of these two clinical conditions is due to diseases with different pathogenic mechanisms. Primary systemic vasculitis and Goodpasture syndrome are the most frequent etiologies. Systemic lupus erythematosus, connective tissue diseases, negative anti neutrophil cytoplasmic antibody vasculitis and those secondary to drugs are far less common causes. An early diagnosis based on clinical, radiologic, laboratory and histologic criteria enables early treatment, thus diminishing its high morbidity-mortality rate. Therapy is based on high doses of corticosteroids, immunosuppressants, tumor necrosis factor inhibitors and plasmapheresis. PMID:20053612

Risso, Jorge A; Mazzocchi, Octavio; De All, Jorge; Gnocchi, César A



Scintigraphy in Ochoa syndrome.  


The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. Nuclear medicine images showed extensive bilateral renal scarring and obstructive pattern in diuretic renogram. PMID:23698458

Infante, Jose Rafael; Rayo, Juan I; Serrano, Justo; Domínguez, María L; García, Lucía; Durán, Carmen



Stiff person syndrome.  


Recognizing stiff person syndrome is clinically important. It is uncommon, characterized by body stiffness associated with painful muscle spasms, and varies in location and severity. It is subdivided into stiff trunk versus stiff limb presentation, and as a progressive encephalomyelitis. Stiff person-type syndrome also reflects a paraneoplastic picture. Most patients demonstrate exaggerated lumbar lordosis. Roughly 60% of patients have antiglutamic acid decarboxylase antibodies in the blood and the cerebrospinal fluid. The differential diagnosis includes many severe conditions. There are reports of response to muscle relaxants, immunosuppressants, intravenous gamma globulin, plasma exchange, a number of anticonvulsants, and botulinum toxin. PMID:23186907

Ciccoto, Giuseppe; Blaya, Maike; Kelley, Roger E



Coffin-Lowry syndrome  

PubMed Central

Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.

Marques Pereira, Patricia; Schneider, Anne; Pannetier, Solange; Heron, Delphine; Hanauer, Andre



Multiple Endocrine Neoplasia Syndromes  

PubMed Central

The multiple endocrine neoplasia (MEN) syndromes consist of three distinct disease entities. They have in common adenomatous, carcinomatous or hyperplastic involvement of a variety of endocrine glands, and an autosomal dominant inheritance. MEN I includes hyperparathyroidism, islet cell and pituitary tumors. The components of MEN IIa are hyperparathyroidism, medullary thyroid carcinoma and pheochromocytoma. MEN IIb includes multiple neuromas, medullary thyroid carcinoma and pheochromocytoma. Effective tests are available for the early detection of components of the syndromes in potentially affected patients. Screening can lead to therapeutic intervention before clinical sequelae ensue.

Pont, Allan



Hypocomplementemic Urticarial Vasculitis Syndrome  

PubMed Central

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.

Christensen, Jim; McCarty, Morgan



[Prader-Willi syndrome].  


Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications. PMID:10645655

Beccaria, L; Bosio, L; Benzi, F; Bregani, P; Achutegui, I; Chiumello, G; Livieri, C; Trifirò, G; de Toni, T; Iughetti, L; Ragusa, L; Salvatoni, A; Tonini, G; Corrias, A; Crinò, A



Lemierre's Syndrome Complicating Pregnancy  

PubMed Central

Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

Thompson, M.; Awonuga, A. O.; Bell, J.; Ray, C.; Awonuga, M. T.; Helfgott, A.



Lemierre's Syndrome Mimicking Leptospirosis  

PubMed Central

Lemierre's syndrome is a suppurative thrombophlebitis involving the internal jugular vein, most commonly associated with Fusobacterium necrophorum, usually a complication of oropharyngeal infections. This syndrome is rare and is often overlooked. We present a case of sepsis mimicking initially severe leptospirosis (Weil's disease) due to acute febrile illness with multiorgan failure and hyperbilirubinemia. Finally, blood cultures revealed Fusobacterium necrophorum and computed tomography (CT) demonstrated bilateral pulmonary nodules and a thrombus in the right internal jugular vein. Early clinical suspicion is crucial so that appropriate diagnostic investigation and antibiotic therapy can be initiated to minimize the risk of life-threatening complications.

Suwantarat, Nuntra; Young, Royden S



Syndromes of premature aging.  


The classic premature aging syndromes are rare disorders, all of which clinically differ a great deal from the normal aging process. None is well understood at the biochemical level, and no specific treatment exists for any of these syndromes. Genetic counseling, preventive measures in some instances, and symptomatic treatment are available. The interest of gerontologists and geriatricians in these disorders derives in part from the expectation that such presumed single-gene mutations might contribute to our understanding of the molecular basis for normal aging. Unfortunately, to date, this expectation has not been realized. PMID:3549072

Beauregard, S; Gilchrest, B A



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

Microsoft Academic Search

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

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



[Tall stature: some classical syndromes].  


We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics. PMID:17020230

Gusbin, N; Verloes, A; Daly, A; Beckers, A


[The Kearns-Sayre syndrome].  


The paper describes Kearns-Sayre's syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. The clinical picture of the disease had a classical triad: external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disturbances. This triad was supplemented with other polymorphous symptoms characteristic of the syndrome, such as moderate myopathic syndrome, hemeralopia, physical infantilism, hypogonadism, pyramidal syndrome. Bifascicular block in the His-Purkinje system was accompanied by mitral prolapse. The problems of early diagnosis of the syndrome and choice of adequate therapeutical methods are discussed. PMID:8154211

Shutov, A A; Chudinov, A A; Nesterova, S G



Drug-Induced Hematologic Syndromes  

PubMed Central

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

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



Guillain-Barré syndrome  

Microsoft Academic Search

Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several factors are useful in predicting the outcome of these

Udaya Seneviratne



Sudden Infant Death Syndrome.  

ERIC Educational Resources Information Center

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

Barnett, Henry L.; And Others


Vasculopathy in Turner Syndrome  

Microsoft Academic Search

Dissection or rupture of the aorta accounts for death in 2–8% of women with Turner Syndrome (TS). Dilatation of the root of the aorta, hypertension and bicuspid aortic valve have been reported as predisposing factors for aortic dissection but the underlying pathogenesis of vascular dilation in TS is unknown. Recent papers have revealed that dilatation of the arterial tree in

Julia E. Ostberg; Gerard S. Conway



Hamman-Rich Syndrome.  

National Technical Information Service (NTIS)

The Hamman-Rich syndrome is described in a woman 51 years of age, ill for 2 1/2 months. Particular features of the report are the acute course and rapidly growing diffuse fibrosis of the lungs with dyspnea and cyanosis. The development of the disease was ...

T. I. Engelgardt T. M. Preobrazhenskaya



Postural orthostatic tachycardia syndrome.  


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

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



Postural orthostatic tachycardia syndrome  

Microsoft Academic Search

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.

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



Neurological syndromes of brucellosis.  

PubMed Central

Eleven patients with brucellosis presented with neurological features closely simulating transient ischaemic attacks, cerebral infarction, acute confusional state, motor neuron disease, progressive multisystem degeneration, polyradiculoneuropathy, neuralgic amyotrophy, sciatica and cauda equina syndrome. Most patients improved quickly after adequate antibiotic treatment but chronic cases responded poorly. These protean neurological manifestations of brucellosis indicate that the underlying pathological mechanisms are diverse.

Bahemuka, M; Shemena, A R; Panayiotopoulos, C P; al-Aska, A K; Obeid, T; Daif, A K



Toxic shock syndrome.  


Presenting features and clinical manifestations of six patients with toxic shock syndrome are reported. In four of the six cutaneous injury, sometimes trivial, occurred before the onset of symptoms and may have been a causal factor. All six children recovered. The need for early recognition and intensive management in this life threatening condition is discussed. PMID:4015173

Buchdahl, R; Levin, M; Wilkins, B; Gould, J; Jaffe, P; Matthew, D J; Dillon, M J



Secure Biometrics Via Syndromes  

Microsoft Academic Search

We consider the secure biometric storage problem and develop a solution using syndrome codes. Specifically, biometrics such as fingerprints, irises, and faces are often used for authentication, access control, and encryption instead of passwords. While it is well known that passwords should never be stored in the clear, current systems often store biometrics in the clear and are easily compromised.

Emin Martinian; Sergey Yekhanin; Jonathan Yedidia



Sandifer syndrome reconsidered.  


Three children with Sandifer syndrome are described. One patient was at first erroneously diagnosed as having neurological disease; the two others had true neurological damage, which led initially to misinterpretation of their bizarre dystonic features. Awareness of this entity will spare such children needless investigations and suffering, while giving them the benefit of proper treatment. PMID:2596289

Mandel, H; Tirosh, E; Berant, M



Update: Toxic Shock Syndrome.  

ERIC Educational Resources Information Center

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

Price, James H.



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...


The Fetal Alcohol Syndrome.  

ERIC Educational Resources Information Center

|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)|

Umbreit, John; Ostrow, Lisa S.



Down Syndrome: Cognitive Phenotype  

ERIC Educational Resources Information Center

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…

Silverman, Wayne



Sick Sinus Syndrome  


... sensors (electrodes) are attached to your chest and limbs to create a record of the electrical signals traveling through your heart. The ... only one wire (lead) to pace one chamber of the heart - in this case, the ... sick sinus syndrome benefit from dual-chamber pacemakers, in which one lead ...


[Syndrome of clinical pseudohypoglycemia].  


Four cases of coma, clinically typed as hypoglycaemic but without low blood sugar levels are presented. The clinical picture was rapidly normalised by immediate infusion with hypertonic glucosate. A tentative pathogenetic hypothesis is proposed and the Yager and Young "non-hypoglycaemia" syndrome is once more discussed. PMID:6521946

Petrella, V; Silvera, F; Massara, G



Ablepharon macrostomia syndrome.  

PubMed Central

The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss. Images

Price, N. J.; Pugh, R. E.; Farndon, P. A.; Willshaw, H. E.



Neuroleptic malignant syndrome  

Microsoft Academic Search

Sirs: We report a patient who developed neuroleptic malignant syndrome (NMS) and elevated serum amylase and lipase levels. A 50-year-old man was admitted because of a 2-week history of unsteady gait, generalized tremor and altered consciousness. Two years earlier, the patient had begun treatment with twice daily doses of trihexyphenidyl Hcl 4 mg and haloperidol decanoate 50 mg once monthly

Tsong-Hai Lee; Lok-Ming Tang



[Dejerine-Roussy syndrome].  


The description of the thalamic syndrome by J. Dejerine and G. Roussy in 1906 was a consecration of the clinicopathologic method, announcing the end of discussions relative to the role of the thalamus as a sensorial relay center, discussions opposing B. Luys to Türk and to Charcot and which animated the end of the 19th century. Since then, the thalamic syndrome has not ceased to arouse the attention of neurologists, who have developed four major themes: the specificity of the thalamic hemianesthesia; the mechanism of the central pain; the semiologic value and physiopathology of the abnormal movements; and finally the pupillary and vasomotor disorders. Exploration of each of these topics led to a definition of neurologic semiology and to the development of neurophysiology during the second half of the XXth century. By reviewing this the confrontation between different men and schools appears behind the opposition of ideas. The revision of the thalamic syndrome ceased when the discovery of the non-specific functions of the thalamus opened the way to new concepts. Dejerine-Roussy's syndrome expresses the semiology of the relay nuclei. For the last thirty years, experience has accumulated on the semiology of lesions affecting the nuclei of convergence. Neuropsychology of thalamic lesions has demonstrated the regulatory role performed by the thalamus within each hemisphere and in the relative activation of each hemisphere. But this is another story. PMID:6763299

Cambier, J



Annotation: The savant syndrome  

Microsoft Academic Search

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

Pamela Heaton; Gregory L. Wallace



What is Syndromic Surveillance?  

Microsoft Academic Search

Innovative electronic surveillance systems are being developed to improve early detection of outbreaks attributable to biologic terrorism or other causes. A review of the rationale, goals, definitions, and realistic expectations for these surveillance systems is a crucial first step toward establishing a framework for further research and development in this area. This commentary provides such a review for current syndromic

Kelly J. Henning


Sudden infant death syndrome  

Microsoft Academic Search

SUMMARY Sudden infant death syndrome (SIDS) is the sudden death of an infant under 1 year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. It is a major cause of postneonatal mor- tality in developed countries. Generally, the infant is found

Ümit Ünüvar; Halis DOKGÖZ


Marfan Syndrome in Europe  

Microsoft Academic Search

Objectives: Marfan syndrome (MFS) is a relatively frequent systemic connective tissue disorder with an important physical morbidity and mortality. The influences of MFS on physical problems, perception of severity, and impact on the quality of life and psychosocial well-being have been studied only limitedly. The aim of this study was to assess the association between the severity derived from the

Sylvia De Bie; Anne De Paepe; Isabelle Delvaux; Sally Davies; Raoul C. M. Hennekam



[The reperfusion syndrome].  


The syndrome of reperfusion is a succession of pathologic phenomena, developing at the level of a tissue that had suffered from an episode of acute ischemia and is then reperfused normally. The clinical phenomena present, characterized mainly by the appearance of an important local edema and of clear signs of tissular suffering, with sensory and motor nervous disturbances, lack of muscular contracture and, finally, phenomena of necrosis, are due to development at cellular level of some processes leading, during reperfusion and resuming of the oxygen contribution towards cells, to some chemical processes which generate an important activation of several systems with major tissular aggressiveness. The phenomena initiated locally produce here a secondary lesion that impairs the recovery of the ischemized territory, on the one hand, and the products generated in this territory activate similar phenomena in the distance, on the other hand. The primary wounded area becomes an important inflammatory focus which emits a series of mediators leading to the generalized activation of the nonspecific immune system. Both phenomena generate, in fact, a syndrome of multiple organic insufficiency that puts in danger the patient's life. Casuistics of 1506 interventions on patients with peripheral acute ischemic syndromes showed that the maximum mortality is given by tardy interventions of reperfusion (more than 12 hours) in which the syndrome of organic insufficiency appeared almost permanently. PMID:1688132

Litarczek, G; Petril?, T



Ehlers-Danlos syndrome  

PubMed Central

We present a clinical case of a 63-year old Caucasian man with Ehlers-Danlos syndrome who was admitted with atrial fibrillation and arterial hypertension. We present this not as a cardiological case but instead address the key questions of differential diagnosis, diagnosis criteria, management and improving the patient’s quality of life.

Choudhury, Rajin; Revenco, Valeriu; Darciuc, Radu



New chromosomal dysmorphic syndromes  

Microsoft Academic Search

This is the report of two independent families in which a balanced maternal translocation led to trisomy 12p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial anomalies which are summarized in

S. Stengel-Rutkowski; A. Albert; J. D. Murken; K. Zahn-Messow; A. Rodewald; M. Zankl; H. Saule; J. Stene



Inflammation and Metabolic Syndrome  

Microsoft Academic Search

The relationship among inflammatory markers: C-reactive protein (CRP), fibrinogen, white blood cells count and metabolic syndrome has been observed in experimental, clinical and epidemiological studies. High levels of inflammatory markers are related to increased body mass index (BMI), increased serum lipoproteins, high blood glucose, hyperinsulinemia and insulin resistance. Probably the chronic inflammation triggers insulin resistance and type 2 diabetes mellitus.

Krassimira Ikonomova



Chronic fatigue syndrome  

Microsoft Academic Search

Chronic fatigue and chronic fatigue syndrome (CFS) have become increasingly recognized as a common clinical problem, yet one that physicians often find difficult to manage. In this review we suggest a practical, pragmatic, evidence-based approach to the assessment and initial management of the patient whose presentation suggests this diagnosis. The basic principles are simple and for each aspect of management

M. Sharpe; T. Chalder; I. Palmer; Simon Wessely



Cockayne's syndrome: case report  

Microsoft Academic Search

The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy

L. Crome; G. C. Kanjilal



Prune Belly Syndrome  

PubMed Central

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.

Tagore, Koyye Ravindranath; Ramineni, Asok Kumar S.; Vijaya Lakshmi, A. R.; N., Bhavani



What Is Sjögren's Syndrome?  


... Easy-to-Read Series of Publications for the Public Sjögren's (SHOW-griens) syndrome is a disease that affects the glands that make moisture. It most often causes dryness in the mouth and eyes. It can also lead to dryness in other places that need moisture, such as the nose, throat, ...


Beckwith-Wiedemann syndrome  

PubMed Central

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.

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



Superior venacava syndrome  

Microsoft Academic Search

Superior vena cava syndrome (SVCS) affects approximately 15,000 people annually in the United States. Currently, mediastinal malignancies, primarily small cell lung cancer, account for the majority of cases of SVCS. Iatrogenic causes, predominantly long-term central venous catheters, account for approximately 7% of cases of SVCS, and the incidence is increasing. Historically, SVCS was considered an oncologic emergency that required urgent

Michael L Pearl; Ann Buhl; Paul A DiSilvestro; Fidel A Valea; Eva Chalas



The Diabetic Foot Syndrome  

Microsoft Academic Search

Summary The diabetic foot syndrome (DFS) is an important diabetic complication. The typical lesion is a neuropathic plantar foot ulcer which heals well when treated properly. However, complications resulting from deep infections of soft tissue or bone, together with a reduced peripheral blood flow, may necessitate amputation of the lower limbs. In general, diabetic patients have a 10-fold higher risk

Thomas Kästenbauer; Karl Irsigler



Syndromes myélodysplasiques érythroblastopéniques  

Microsoft Academic Search

Myelodysplastic syndrome with erythroid hypoplasia or erythroblastopenia has not yet been clearly defined, and in most patients it is mistaken for acquired pure red cell aplasia. Including one additional patient reported in this article, a literature review revealed only 50 cases over the last 20 years. These patients were predominantly elderly males, all required regular packed red cell transfusions, and they had

C. Martinaud; S. Pons; G. Ménard; O. Gisserot; J.-P. de Jaureguiberry; P. Brisou



Physiopathologie des syndromes myélodysplasiques  

Microsoft Academic Search

Myelodysplastic syndromes are clonal diseases of the hematopoietic stem cell with normal or increased bone marrow cellularity and peripheral cytopenias. Pathophysiology of these diseases is complex with frequent ras mutations, a growth defect of immature progenitors mainly erythroid progenitors, and increased apoptosis of differentiated cells. This growth defect could be linked to (1) a resistance to hematopoietic cytokine stimulation although,

Y.-E. Claessens; M. Fontenay-Roupie



Irritable bowel syndrome  

Microsoft Academic Search

Patients with different irritable bowel symptoms and normal subjects were compared to determine whether subtypes of irritable bowel syndrome (IBS) could be distinguished on the basis of colonic motility or psychological test scores. A provocative test involving stepwise distension of the rectosigmoid area revealed two types of colonic motility. Slow contractions having durations of at least 15 sec and occurring

William E. Whitehead; Bernard T. Engel; Marvin M. Schuster



Genetics of Hypertensive Syndrome  

Microsoft Academic Search

The knowledge of the genetic bases of hypertension has improved over the last decade; this area of research has high priority due to the high incidence of hypertension and its impact on public health. Monogenetic mineralocorticoid hypertension syndromes are associated with suppressed plasma renin activity due to excessive activation of the mineralocorticoid pathway. We review the pathophysiology, phenotype, and method

Alejandro Martinez-Aguayo; Carlos Fardella



Revisiting Plummer Vinson Syndrome  

PubMed Central

Plummer Vinson syndrome is a rare association of postcricoid dysphagia, upper esophageal webs, and iron deficiency anemia. Iron deficiency state has been hypothesized to play an etiological role. While literature review elucidates the resolution of dysphagia in most cases with iron therapy, we discuss our case where the dysphagia was resistant to such therapy and necessitated a mechanical dilatation.

Gude, D; Bansal, DP; Malu, A



Fetal Alcohol Syndrome.  

ERIC Educational Resources Information Center

|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…

Zerrer, Peggy


Rothmund-Thomson syndrome  

Microsoft Academic Search

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

Lidia Larizza; Gaia Roversi; Ludovica Volpi



Fragile X Syndrome  

ERIC Educational Resources Information Center

|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…

Schwarte, Andrea R.



Prader-Willi Syndrome  

ERIC Educational Resources Information Center

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

Kundert, Deborah King



Complex regional pain syndrome  

Microsoft Academic Search

Since the early musings in the mid-1800s of Claude Bernard and his French neurological colleagues on the association of pain with the sympathetic nervous system, complex regional pain syndrome (CRPS) has both fascinated and perplexed practitioners. Some of the clearest and most interesting descriptions of 'causalgia' come from the American Civil War by one of Bernard's students, Silas Weir-Mitchell. The

R. N. Harden



Turner Syndrome in Adulthood  

Microsoft Academic Search

Turner syndrome is a common genetic disorder associated with abnormalities of the X chromosome and occurs in about 50 per 100,000 liveborn girls. It is associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids and infertility. Morbidity and mortality are increased throughout the lifespan. The average intellectual performance is within the normal range.

Claus Højbjerg Gravholt; D. B. DUNGER; G. S. CONWAY; J. A. H. WASS



Gulf War Syndrome  

Microsoft Academic Search

The existence of Gulf War Syndrome is a topic of much controversy. Many highly respected scientists initially concluded that no single disease or unique condition affected the veterans of the Gulf War. More recent studies have concluded that there is evidence that some of the conditions suffered by many Gulf War veterans are more common among those who served in

Mary Virginia Taylor; Priscilla L. Stephenson



Bosma arhinia microphthalmia syndrome.  


Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Other patients with this syndrome have been reported as cases of arhinia with associated defects. During embryonic development, the nasal placodes form 28 days after conception shortly after the optic vesicles makes contact with the overlying surface ectoderm at 26-27 days, and both layers invaginate to form the eyes between 34 and 44 days. Mice with homozygous mutations of Pax6, manifest underdevelopment of ocular and nasal structures, and a network of developmentally regulated genes function downstream of Pax6 to form nasal, ocular, and pituitary structures. These genes represent candidate genes for this disorder, and familial recurrence of Bosma syndrome has been reported to occur. This report describes two sporadic unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases. PMID:16353241

Graham, John M; Lee, John



Childhood myelodysplastic syndrome.  


Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5 % of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease. PMID:23912822

Chatterjee, Tathagata; Choudhry, V P



MICRO syndrome: an entity distinct from COFS syndrome.  


Children born with the findings of microcephaly, cataracts and microcornea can result not only from a prenatal viral infection, but also from an autosomal recessive Mendelian disorders. We present three pairs of affected siblings with MICRO syndrome, who were born with congenital microcephaly, microcornea, and cataracts. MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism. At birth, MICRO syndrome resembles Cerebro-Oculo-Facio-Skeletal (COFS) syndrome, but it differs in the lack of the rapidly progressive neurologic features leading to severe brain atrophy with calcifications. Patients with MICRO syndrome manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with optic atrophy, profound mental retardation, and progressive joint contractures with growth failure. COFS syndrome shares also many clinical and cellular similarities with Cockayne syndrome (CS), and cultured cells in both conditions demonstrate hypersensitivity to ultraviolet (UV) radiation due to impaired nucleotide excision repair (NER). NER studies in cultured fibroblasts from MICRO patients give normal results, so MICRO syndrome should be considered in children with features resembling COFS syndrome and CS, but who have normal NER. MICRO should be distinguished from other similar clinical disorders with normal NER by the presence of significant visual impairment and cortical blindness despite early surgery for congenital cataracts, frontal polymicrogyria, thin corpus callosum, and cortical atrophy by MRI. PMID:15216543

Graham, John M; Hennekam, Raoul; Dobyns, William B; Roeder, Elizabeth; Busch, David



LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci  

SciTech Connect

The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)



Ehlers-Danlos syndromes and Marfan syndrome.  


Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management. EDS are a heterogeneous group of conditions characterized by skin hyperextensibility, atrophic scarring, joint hypermobility and generalized tissue fragility. The current classification proposes six subtypes based on clinical, biochemical and molecular characteristics. However, examples of unclassified variants and 'overlap phenotypes' are becoming more common. Mutations in genes encoding fibrillar collagens or collagen-modifying enzymes have been identified in most forms of EDS, including the classic and vascular subtypes (collagen type V and III, respectively), and the rare arthrochalasis, kyphoscoliosis and dermatosparaxis variants (type I collagen defects). To date, the genetic background of the hypermobility type of EDS remains unclear, although some new insights have been gained recently. MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root dilation/dissection, ectopia lentis and bone overgrowth, respectively. Advances in therapeutic, mainly surgical, techniques have improved median survival significantly, yet severe morbidity and a substantial risk for premature mortality remain associated. The disorder is caused by mutations in the FBN1 gene, encoding the microfibrillar protein fibrillin-1. Recently, new insights in the pathogenesis changed the prevailing concept of this type 1 fibrillinopathy as a structural disorder of the connective tissue into a developmental abnormality manifesting perturbed cytokine signalling. These findings have opened new and unexpected targets for aetiologically directed drug treatments. PMID:18328988

Callewaert, Bert; Malfait, Fransiska; Loeys, Bart; De Paepe, Anne



Neonatal Marfan Syndrome — A Case Report  

Microsoft Academic Search

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

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


Delusional Misidentification Syndromes and Cerebral ‘Dysrhythmia’  

Microsoft Academic Search

Electroencephalographic investigation of 21 patients with delusional misidentification syndromes (11 with the syndrome of Capgras, 7 with the syndrome of Frégoli, 2 with the syndrome of intermetamorphosis and 1 with the syndrome of subjective doubles) revealed a high abundance and severity of abnormalities. The findings are discussed within the framework of a possible organic (and more specifically dysrhythmic) contribution to

G. N. Christodoulou; S. Malliara-Loulakaki



Drug treatment of metabolic syndrome.  


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

Altabas, Velimir



Tubulointerstitial nephritis and uveitis syndrome (TINU) with Fanconi's syndrome.  


We report a 57-year-old woman with concurrent tubulointerstitial nephritis and uveitis syndrome (TINU) and Fanconi's syndrome. She presented with sudden onset of bilateral ocular pain, blurred vision, acute renal failure, glucosuria and proteinuria. Slit lamp examination revealed acute bilateral anterior uveitis. Tubulointerstitial nephritis was confirmed by kidney biopsy. Laboratory examination revealed normoglycemic glucosuria, proteinuria, normal anion-gap metabolic acidosis, phosphaturia, urinary uric acid wasting and kaliuresis leading to hypokalemia. Her vision and renal function improved gradually after systemic steroid therapy. There have been rare reports of TINU syndrome which had features of Fanconi's syndrome. The prevalence of TINU syndrome may be underestimated, and its association with Fanconi's syndrome requires further investigation. PMID:21269599

Yao, Y-H; Lin, C-C; Chung, Y-M; Yang, A-H; Li, S-Y; Lin, C-C; Lin, Y-P; Yang, W-C; Yang, C-Y



Scleroderma overlap syndromes.  


The most common scleroderma overlap syndromes are mixed connective tissue disease (MCTD), scleromyositis and synthetase syndrome. There is controversy concerning MCTD as a separate entity due to heterogeneous clinical manifestations, not infrequent transformation into definite CTD and various classification criteria. Our study of 94 adult patients and 20 children, classified according to the criteria of Alarcon-Segovia, and especially a 5, 9-year follow-up showed transformation into SLE or SSc in over 20% of patients, less frequently than reported by others, whereas over half of the cases remained undifferentiated CTD. In several cases ARA criteria for both SSc and SLE were fulfilled, and there is no consensus whether such cases should be recognized as coexistence of both definite diseases or as MCTD. High titers of U1 RNP antibodies to 70 kD epitope were invariably present, whereas, by transformation into distinctive CTD there appeared, in addition, antibodies characteristic of these CTD. Of 108 cases positive for PM-Scl antibody, 83% were associated with scleromyositis. This scleroderma overlap syndrome differed from MCTD by coexistent features of dermatomyositis (myalgia, myositis, Gottron sign, heliotrope rash, calcinosis) with no component of SLE, characteristic of MCTD. The course was also chronic and rather benign, as in MCTD, and all cases responded to low or moderate doses of corticosteroids. A not infrequent complication was deforming arthritis of the hands. Our immunogenetic study showed an association of cases positive for PM-Scl antibody with HLA-DQA1x0501 alleles in 100% and with HLA-DRB1x0301 in 94% of cases. Synthetase syndrome, associated with anti-histidyl-tRNA synthetase antibodies, studied in 29 patients with myositis and interstitial lung disease (ILD), only in single cases had scleroderma-like features. These cases differed from SSc by acute onset with fever, and by response to moderate doses of corticosteroids. We also studied overlap of localized scleroderma with other CTD: 21 cases of progressive facial hemiatrophy and linear scleroderma, and 55 (39.5%) of atrophoderma Pasini-Pierini (APP) and morphea. As in other autoimmune disorders, two or more connective tissue diseases (CTD) may develop concurrently or sequentially in the same patient. In such overlap syndromes ARA criteria must be fulfilled for each of the disease, and the clinical presentation has features of both. However more frequently overlap syndromes only combine some manifestations of more than one CTD, and present a highly heterogeneous group of disorders with prevailing clinical features of SSc. PMID:10599327

Jablonska, S; Blaszczyk, M



[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].  


Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS). PMID:20452840

Barrios Sanjuanelo, A; Muñoz Otero, C



A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome  

PubMed Central

A 14-month-old boy with overlapping features of Townes-Brocks syndrome (TBS) and single median maxillary incisor syndrome (SMMCIS) is being reported with brief review of the above syndromes and possible differential diagnosis.

Babu, Thirunavukkarasu Arun; Chandrasekaran, Venkatesh; Balachandran, Sathish



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

PubMed Central

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 abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality. Images

Coppin, B D; Temple, I K




PubMed Central

Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine “experiments of nature” in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations.

Walter, Elizabeth; Mazaika, Paul; Reiss, Allan



Johanson-Blizzard syndrome  

PubMed Central

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed.

Almashraki, Nabeel; Abdulnabee, Mukarram Zainuddin; Sukalo, Maja; Alrajoudi, Abdullah; Sharafadeen, Iman; Zenker, Martin



[Cardiorenal anemia syndrome (review)].  


Cardiorenal anemia syndrome (CRAS) refers to the simultaneous presence of anemia, heart failure (HF), and chronic kidney disease (CKD) that forms a pathologic triad with an observe impact on morbidity and mortality. Certain researches were made regarding the usage of erythropoietin (EPO) in patients with the above mentioned disorders. This leads to the improvement of left ventricular function, quality of life and physical tolerance with decreased risk of hospitalization. Despite successful anemia treatment with EPO in dialysis patients with CKD, HF and cardiorenal syndrome type 2, it should be important to reveal the target Hb level and role of EPO in this category of patients. According to European guidelines in 85% of hemodialysis patients targeted Hb level should be no more than 11g/dl, moreover, the treatment of anemia can be organized before dialysis and it will certainly increase the quality of life in this type of patients. PMID:23293227

Minasyan, A



Pinch-off syndrome.  


Subclavian venous catheterization was previously frequently performed, but because of life-threatening complications such as hemothorax, pneumothorax, mediastinal hematoma, and myocardial injury, its use has become less common. However, this practice has some advantages in patient mobility, secured dressing, and rapidity and adequacy of vascular access. In some situations where patient comfort is an especially important consideration, such as with totally implantable venous port insertion for chemotherapy, the subclavian route can be a good choice if an experienced and well-trained faculty is available. The authors have had recent experience with pinch-off syndrome-in other words, spontaneous catheter fracture-in 3 patients who had undergone venous port implantation through the right subclavian route. Through these cases, we intend to review the dangers of subclavian venous catheterization, the causes of pinch-off syndrome, and its clinical presentation, progress, treatments, and prevention. PMID:24020024

Cho, Jin-Beom; Park, Il-Young; Sung, Ki-Young; Baek, Jong-Min; Lee, Jun-Hyun; Lee, Do-Sang



Empty follicle syndrome  

PubMed Central

Empty follicle syndrome (EFS) is a condition in which no oocytes are retrieved after an apparently adequate ovarian response to stimulation and meticulous follicular aspiration. EFS can be classified into 'genuine' and 'false' types according to hCG levels. It is a rare condition of obscure etiology. The existence of genuine EFS has been questioned and is still controversial. The limitation around EFS is that the definition of EFS is obscure. Management of patients with EFS is a challenge to physicians. No single treatment is known to be universally effective. However, patients should be adequately informed regarding the importance of correct hCG administration because improper hCG administration is a common and preventable cause of EFS. EFS is a syndrome that deserves additional study because such investigation could lead to a further understanding of ovarian biology and infertility.

Kim, Jee Hyun



Postthrombotic syndrome: surgical possibilities.  


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

Khanna, Ajay K; Singh, Shivanshu



Postthrombotic Syndrome: Surgical Possibilities  

PubMed Central

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.

Khanna, Ajay K.; Singh, Shivanshu



Second Impact Syndrome  

PubMed Central

A controversial term first described by Saunders and Harbaugh1 in 1984, Second Impact Syndrome (SIS) consists of two events. Typically, it involves an athlete suffering post-concussive symptoms following a head injury.2 If, within several weeks, the athlete returns to play and sustains a second head injury, diffuse cerebral swelling, brain herniation, and death can occur. SIS can occur with any two events involving head trauma. While rare, it is devastating in that young, healthy patients may die within a few minutes. Emergency physicians should be aware of this syndrome and counsel patients and their parents concerning when to allow an athlete to return to play. Furthermore, we present guidelines for appropriate follow up and evaluation by a specialist when necessary.

Bey, Tareg; Ostick, Brian



Abdominal compartment syndrome.  


Intra-abdominal hypertension (IAH) and abdominal compartment syndrome (ACS) are frequently encountered in critically ill patients and carry a high morbidity and mortality risk. Despite these facts, IAH/ACS are still overlooked by many physicians and therefore timely diagnosis is not made and treatment is often inadequate. All clinicians should be aware of the risk factors predicting IAH/ACS, the profound implications and derangements on all organ systems, the clinical presentation, the appropriate measurement of intra-abdominal pressure to detect IAH/ACS and the current treatment options for these detrimental syndromes. This comprehensive review provides knowledge about known facts, unresolved issues and future directions for research to improve patient survival and long-term outcome. PMID:20668421

Mayer, D; Veith, F J; Lachat, M; Pfammatter, T; Hechelhammer, L; Rancic, Z



Polycystic ovarian syndrome.  


Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examination with hematological and radiological investigations is required for clinical evaluation. Management is a combined effort involving a dermatologist, endocrinologist, gynecologist, and nutritionist. Morbidity in addition includes a low "self image" and poor quality of life. Long term medications and lifestyle changes are essential for a successful outcome. This article focuses on understanding the normal and abnormal endocrine functions involved in the pathogenesis of PCOS. Proper diagnosis and management of the patient is discussed. PMID:23619436

Madnani, Nina; Khan, Kaleem; Chauhan, Phulrenu; Parmar, Girish


[Pendred's syndrome. Current features].  


Introduction Pendred's syndrome is a recessive autosomal disease, traditionally defined as the association of deaf-mutism, goiter and dysfunctional iodide organization revealed by the perchlorate discharge test. It represents 4 to 10% of the causes of congenital hypoacusis. Although described more than a 100 years ago, the association of thyroid and cochleo-vestibular damage remained unclear for many years. Genetic abnormalities Progress in molecular biology has revealed that the disease is related to alterations in the PDS gene situated on chromosome 7. The PDS gene is responsible for the production of pendrine, protein involved in anion (l-, Cl-) transportation, notably in the apical pole of the thyreocyte and the cochlear duct, where the endolympha is produced. Practical implications The truncation of pendrine related to the genetic alterations be responsible for the morpho-functional alterations in the cochlear apparatus and the thyroid. In this perspective, Pendred's syndrome would appear as a genetic disorder in anion transportation. PMID:11760600

Wémeau, J L; Vlaeminck-Guillem, V; Dubrulle, F; Dumur, V; Vincent, C



The idiopathic hypereosinophilic syndrome.  


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

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



[Restless legs syndrome epidemiology].  


The restless legs syndrome (RLS) is a chronic sensori-motor disorder characterized by a complaint of an irresistible urge to move the legs. This urge can often be accompanied by pain or other unpleasant sensations, it either occurs or worsens with rest, particularly at night, and temporarily improves with activity. Prevalence estimates vary between 7.2% and 11.5% of the Caucasian adult population. RLS prevalence increases with age, and women are more frequently affected than men. In France, a prevalence rate of 8.5% was estimated. Although RLS is mainly idiopathic, several clinical conditions have been associated with it, mainly pregnancy, iron deficiency with or without anemia, end-stage renal disease and peripheral neuropathy. RLS is often underdiagnosed and there is a clear need for complementary education to improve the accurate diagnosis of RLS. Indeed, a better knowledge of this syndrome is a prerequisite to prompt an appropriate therapeutic management. PMID:20334990

Ghorayeb, Imad; Tison, François



Ehlers-Danlos syndrome.  


Two cases of Ehlers-Danlos Syndrome (EDS) are discussed. The first case illustrates some of the classic findings and complications often seen in this rare, inherited, connective tissue disorder. The second case illustrates a much less severe presentation in which the diagnosis of Ehlers-Danlos syndrome is equivocal. A review of the pertinent literature offers an understanding of the pathophysiology, clinical presentation, radiological findings, differential diagnosis and complications of this condition. It is essential for practitioners to understand the indications and contraindications for various treatment and diagnostic procedures such as angiography, surgery and joint manipulation. Due to the severity of potential complications to the skin, bones, joints, cardiovascular, visceral and ocular structures, accurate diagnosis is essential. PMID:2376721

Taylor, J A; Greene-Deslauriers, K; Tanaka, D I



Multiple pilomatricomas in Kabuki syndrome.  


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

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



Antiphospholipid syndrome and the skin.  


The antiphospholipid syndrome is an acquired multisystem disorder of hypercoagulation, which may be primary or secondary to underlying diseases. Serologic markers for the syndrome are the lupus anticoagulant and anticardiolipin antibodies. Clinical features include recurrent thrombotic events (arterial or venous), repeated fetal loss, and thrombocytopenia. Cutaneous manifestations may occur as the first sign of antiphospholipid syndrome. These include livedo reticularis, necrotizing vasculitis, livedoid vasculitis, thrombophlebitis, cutaneous ulceration and necrosis, erythematous macules, purpura, ecchymoses, painful skin nodules, and subungual splinter hemorrhages. Antiphospholipid syndrome may also be associated rarely with anetoderma, discoid lupus erythematosus, cutaneous T-cell lymphoma, or disorders that closely resemble Sneddon or Degos syndromes. Noninflammatory vascular thrombosis is the most frequent histopathologic feature observed. Prophylaxis and treatment of thrombosis in patients with antiphospholipid syndrome relies principally on anticoagulant and antiplatelet agents. PMID:9204065

Gibson, G E; Su, W P; Pittelkow, M R



Abdominal compartment syndrome in children.  


Abdominal compartment syndrome is defined as sustained intra-abdominal pressure greater than 20 mm Hg (with or without abdominal perfusion pressure <60 mm Hg) associated with new organ failure or dysfunction. The syndrome is associated with 90% to 100% mortality if not recognized and treated in a timely manner. Nurses are responsible for accurately measuring intra-abdominal pressure in children with abdominal compartment syndrome and for alerting physicians about important changes. This article provides relevant definitions, outlines risk factors for abdominal compartment syndrome developing in children, and discusses an instructive case involving an adolescent with abdominal compartment syndrome. Techniques for measuring intra-abdominal pressure, normal ranges, and the importance of monitoring in the critical care setting for timely identification of intra-abdominal hypertension and abdominal compartment syndrome also are discussed. PMID:23203955

Newcombe, Jennifer; Mathur, Mudit; Ejike, J Chiaka



[Kanner's syndrome and childhood schizophrenia].  


The examination of 32 children with Kanner's syndrome of early infantile autism permits to assume that this syndrome in some of the cases is expressed only by inborn anomalies which correspond to constitutional psychopathy in adults. In most of the cases this syndrome forms the initial expression of child schizophrenia. In separate cases disorders very similar to Kanner's syndrome may be seen after the first olliterated attack during early childhood (up to 3 years). A comparative study of the same indices of development of 268 children with an early onset of schizophrenic process in spite of some differences confirms that Kanner's syndrome is very close to childhood schizophrenia. An analysis of genealogical data shows genetical relations of Kanner's syndrome with child schizophrenia. PMID:52249

Vrono, M Sh; Bashina, V M



Treacher Collins syndrome  

PubMed Central

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

Shete, Prachi; Tupkari, JV; Benjamin, Tabita; Singh, Aarti



Pelvic congestion syndrome.  


Pelvic congestion syndrome (PCS) is an important cause of chronic pelvic pain in female patients. Chronic pelvic pain, defined as lower abdominal or pelvic pain for a duration of 6 months or more, causes significant morbidity and results in a large number of diagnostic laparoscopies. It is of utmost importance to identify treatable causes of chronic pelvic pain, one of which is PCS. The etiology, clinical features, investigations, and treatment options in PCS have been discussed in this paper. PMID:23795992

Rane, Neil; Leyon, Joe Joseph; Littlehales, Tracey; Ganeshan, Arul; Crowe, Paul; Uberoi, Raman


[Peutz-Jeghers syndrome].  


Peutz-Jeghers syndrome is an autonomic dominant disease characterized by hamartomatous polyps and mucocutaneous hyperpigmentation. We present 16 cases; females were more affected. The most common presenting complaints were of gastrointestinal tract. All polyps found were hamartomatous with general distribution through gastrointestinal tract. Endoscopic polypectomy should be carried out for treatment. Radiologic, endoscopic and histologic studies should be conducted for long-term follow-up, because of high risk of malignancy. PMID:15125328

Cervantes Bustamante, Roberto; Ocampo del Prado, Luis Carlos; Zárate Mondragón, Flora; Mata Rivera, Norberto; Ramírez-Mayans, Jaime A; Mora Tiscareño, María Antonieta; García Campos, L N



Microsoft Academic Search

Im Jahre 1880 beschrieb der Pariser Neurologe und Psychiater Dr. med. Jules Cotard (geb. 1840, verstorben 1889) ein psychisches\\u000a Zustandsbild, das er als einen speziellen Typus einer agitierten Melancholie\\/Depression verstand und als dessen Besonderheit\\u000a er ein „délire des négations“ herausstellte; später ging dieses Bild als „Cotard-Syndrom“ in die Literatur ein (Arenz 2003, Arenz u. Lange 2002, Berrios u. Luque 1995a,

Manfred Wolfersdorf; Anke Heidrich


Fetal varicella syndrome.  


Fetal varicella syndrome is a rare condition of the newborn, presenting with cutaneous scars, limb defects and ocular and central nervous system abnormalities. It is due to varicella or zoster developing in the fetus following maternal varicella infection during early pregnancy. We are reporting one such patient who presented with a linear, depressed, erythematous scar over the left forearm and axillary fold, with a history of maternal chicken pox during the first trimester of pregnancy. PMID:21079337

Ramachandra, S; Metta, Arun Kumar; Haneef, Nayeem Sadath; Kodali, Sandeep


Guillain-Barré syndrome  

Microsoft Academic Search

Guillain-Barr syndrome (GBS) is an autoimmune acute peripheral neuropathy. Frequently a flu-like episode or a gastroenteritis\\u000a precede GBS, and the cross-reactivity between microbial and neural antigens partly explains the pathophysiology of the disease\\u000a and the possible detection of antiganglioside antibodies. The weakness reaches its nadir in 2–4 weeks: the patients may be\\u000a chair- or bed-bound, may need artificial ventilation and

V. Cosi; M. Versino



Revisiting recombinant 8 syndrome.  


Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a rare but important cause for developmental delay and chronic illness noted among individuals of Hispanic ancestry that occurs with greater reported frequency in the Southwest United States. The recombinant chromosome is rec(8)dup(8q)inv(8)(p23.1q22.1) and in all known cases is derived by a parental pericentric inversion, inv(8)(p23.1q22.1). To test our hypothesis that modern medical management strategies may alter the outcome of patients with recombinant 8 syndrome in regard to mortality, morbidity, and neurodevelopmental outcomes, we sought to update the natural history of recombinant 8 syndrome by completing a thorough medical and psychological assessment of affected individuals. Twelve affected individuals, ranging from 2 to 21 years of age, were recruited with IRB approval. Our patients scored on in the mild to severe cognitive functioning level (range 30-70), with surprising preservation in the social/adaptive arenas. Most patients responded well to heart surgery and developmental outcomes were in proportion to cardiac status. Orthopedic surgery to ameliorate effects of spasticity can be complicated by long recovery times and decreased ability to ambulate. Our findings do not support additional morbidly during cardiac repair. Taken together, our findings support a consistent phenotype with improved survival in comparison to previously published studies. Efforts to encourage learning and developmental progress should not be withheld as quality of life for many of these individuals is considered good by their families and medical providers. PMID:21739594

Pickler, Laura; Wilson, Rebecca; Tsai, Anne C-H



J Wave Syndromes  

PubMed Central

The J wave, also referred to as an Osborn wave, is a deflection immediately following the QRS complex of the surface ECG. When partially buried in the R wave, the J wave appears as a J point elevation or ST segment elevation. Several lines of evidence have been advanced suggesting that arrhythmias associated with early repolarization (ER) pattern in the inferior leads or mid- to lateral precordial leads, Brugada syndrome (BrS) as well arrhythmias associated with hypothermia and the acute phase of ST segment elevation myocardial infarction (STEMI), are mechanistically linked to abnormalities in the manifestation of the transient outward current (Ito)-mediated J wave. Although BrS and early repolarization syndrome (ERS) differ with respect to the magnitude and lead location of abnormal J wave manifestation, they can be considered to represent a continuous spectrum of phenotypic expression that we propose be termed J wave syndromes. This review attempts to summarize our current state of knowledge concerning J-wave syndromes, bridging basic and clinical aspects. We propose to divide ERS into three subtypes: Type 1, displaying an ER pattern predominantly in the lateral precordial leads, is prevalent among healthy male athletes and rarely seen in VF survivors; Type 2, displaying an ER pattern predominantly in the inferior or infero-lateral leads, is associated with a higher level of risk; whereas Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads, is associated with the highest level of risk for development of malignant arrhythmias and is often associated with VF storms.

Antzelevitch, Charles; Yan, Gan-Xin



Li–Fraumeni Syndrome  

Microsoft Academic Search

\\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

David Malkin


Rett Syndrome – an update  

Microsoft Academic Search

Summary.   Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in\\u000a early childhood presenting clinically with mental retardation, behavioral changes, late movement disturbances, loss of speech\\u000a and hand skills, ataxia, apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. It occurs\\u000a almost exclusively in females with an estimated prevalence of 1 in 10–22,000

K. A. Jellinger



Zollinger-Ellison syndrome  

Microsoft Academic Search

Opinion statement  Zollinger-Ellison syndrome (ZES) is caused by a gastrin-producing tumor called a gastrinoma, which results in gastric acid\\u000a hypersecretion. Gastrin stimulates the parietal cell to secrete acid directly and indirectly by releasing histamine from enterochromaffin-like\\u000a (ECL) cells, and induces hyperplasia of parietal and ECL cells. ZES should be suspected in patients with severe erosive or\\u000a ulcerative esophagitis, multiple peptic ulcers,

Patrick D. Hung; Mitchell L. Schubert; Anastasios A. Mihas



Fragile X syndrome  

Microsoft Academic Search

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,

Kathryn B Garber; Jeannie Visootsak; Stephen T Warren



Myelodysplastic Syndromes (MDS)  

Microsoft Academic Search

\\u000a Primary myelodysplastic syndromes (MDS), the most common hematologic malignancy to affect the elderly, are clonal disorders\\u000a of hematopoietic stem cells. MDS is characterized by an increased but ineffective and dysplastic hematopoiesis as well as\\u000a peripheral cytopenias. The abnormal hematopoietic clone partly gives rise to mature, but functionally and morphologically\\u000a abnormal blood cells, and, at least in some cases, is capable

Lisa Pleyer; Daniel Neureiter; Victoria Faber; Richard Greil


Diet and Metabolic Syndrome  

Microsoft Academic Search

Recent change in lifestyle, including physical inactivity and unhealthy diets, are likely to have played an important role in global epidemic of obesity, type2 diabetes mellitus (T2DM), and the metabolic syndrome (MetS). Implementation of a healthy lifestyle, with an increase in physical activity and reduction of body weight, based on the regulation of calories and fat intake, are the basis

Satomi Akagiri; Yuji Naito; Toshikazu Yoshikawa


The Marfan Syndrome  

Microsoft Academic Search

\\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

Amaresh Nath; Enid R. Neptune


Malignancies in Down Syndrome  

Microsoft Academic Search

Down Syndrome (DS) is associated with an increased incidence of malignancies, especially leukaemias. We came across 8 DS children\\u000a presenting with malignancies and having trisomy 21 as the sole cytogenetic abnormality. Of these 8 DS cases, 4 presented with\\u000a acute lymphocytic leukaemia, 2 with acute myeloid leukaemia and one case each with Hodgkin’s disease and Wilms’ tumour. There\\u000a are contradictory

P. Kusumakumary; T. S. Vats; Ravindran Ankathil; H. Rao Gattamaneni; M. Krishnan Nair



Mucopolysaccharidosis IV (Morquio Syndrome)  

Microsoft Academic Search

Morquio syndrome (mucopolysaccharidosis IV: MPS IV) is an autosomal recessive disease classified in the group of mucopolysaccharide\\u000a storage diseases. Two forms are recognized, type A and type B. MPS IVA is characterized by the absence of the enzyme N-acetylgalactosamine\\u000a 6-sulfate sulfatase (GALNS). MPS IVB results from deficiency of the enzyme ?-galactosidase. Both types excrete keratan sulfate\\u000a (KS) in urine. In

Shunji Tomatsu; Adriana M. Montaño; Tatsuo Nishioka; Tadao Orii


Blueberry muffin syndrome  

PubMed Central

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

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



Stiff Heart Syndrome  

PubMed Central

Isolated cardiac amyloidosis, or “Stiff Heart Syndrome,” is a rare manifestation of amyloidosis. Some degree of cardiac amyloid deposition is common in elderly patients, as reported in prior post-mortem studies; however, isolated cardiac involvement with predominantly cardiac symptoms and no evidence of systemic disease is a rare presentation. Establishing the correct diagnosis, even with the use of extensive testing including amyloid typing, understanding the clinical significance, and management can be challenging in such cases.

Bhupathi, Satya S.; Chalasani, Sreelatha; Rokey, Roxann



Salaryman Sudden Death Syndrome  

Microsoft Academic Search

Much current Japanese popular discussion centres on the sudden death, at an early age, of Japan?s hard-working, white-collar workers: Karoshi (death from overwork) – Salaryman?s Sudden Death Syndrome. Officially, it does not exist, as the government and big business are hesitant to acknowledge the phenomenon in light of the growing need to become more productive. The current recessionary pressure and

Frederick A. Palumbo; Paul A. Herbig



Rett Syndrome Mouse  

NSDL National Science Digital Library

Dr. Zoghbi shows how a mouse that has been given the gene responsible for Rett syndrome exhibits some of the same neurological symptoms as human Rett patients. This video is featured on the DVD Learning from Patients: The Science of Medicine, available free from HHMI. This video is 1 minute and 13 seconds in length, and available in Quicktime(6 MB) and Windows Media (9 MB). All Neuroscience videos are located at:

Howard Hughes Medical Institute (HHMI;)



Spontaneous ovarian hyperstimulation syndrome.  


Spontaneous forms of the ovarian hyperstimulation syndrome (sOHSS) are nearly always reported between 8 and 14 weeks of pregnancy and also with follicle-stimulating hormone (FSH) producing pituitary adenoma. The syndrome has been previously reported in rare instances of increased production of human chorionic gonadotrophin (hCG) such as multiple pregnancies, hydatiforme mole, polycystic ovary disease and elevated concentrations of thyroid-stimulating hormone (TSH) in hypothyreoidism. High levels of these hormones are able to stimulate by natural promiscuous activation the wild-type FSHr, resulting in sporadic presentations of the syndrome. Since 2003, only six different activating FSHr gene mutations have been reported in cases of familial or habitual sOHSS. In addition to five mutations which have been found in the transmembrane helices (Asp567Asn, Asp567Gly, Thr449Ile, Thr449Ala, Ile545Thr), the first germline mutation (c.383C > A, p. Ser 128 Tyr) in the extracelullar domain was identified. All five mutants were abnormally activated by TSH and normal levels of hCG while displaying constitutive activity. In contrast to these mutations, the p.Ser128Tyr mutant displayed an increase in sensitivity only toward hCG. Accordingly, the mutated FSHrs, may be hyperstimulated by the pregnancy-derived hCG or TSH, inducing the occurrence of the syndrome. In the differential diagnosis, malignancy, pregnancy luteoma and hyperreactio luteinalis would have to be excluded. In almost all of the cases the disease regresses spontaneously and could be managed expectantly or conservatively, but with termination of pregnancy or surgery in cases of complications. PMID:23941020

Kasum, Miro; Oreskovi?, Slavko; Jezek, Davor



Stiff heart syndrome.  


Isolated cardiac amyloidosis, or "Stiff Heart Syndrome," is a rare manifestation of amyloidosis. Some degree of cardiac amyloid deposition is common in elderly patients, as reported in prior post-mortem studies; however, isolated cardiac involvement with predominantly cardiac symptoms and no evidence of systemic disease is a rare presentation. Establishing the correct diagnosis, even with the use of extensive testing including amyloid typing, understanding the clinical significance, and management can be challenging in such cases. PMID:20852084

Bhupathi, Satya S; Chalasani, Sreelatha; Rokey, Roxann



Stiff-person syndrome  

Microsoft Academic Search

Opinion statement  Stiff-person syndrome (SPS) is a progressive neurologic disorder characterized by 1) stiffness that is prominent in axial\\u000a muscles, with co-contraction of agonist and antagonist muscles; 2) sudden episodic spasms; and 3) absence of another disease\\u000a that causes similar symptoms. The diagnosis of SPS is based on clinical grounds and requires a high degree of suspicion. The\\u000a diagnosis is, however,

Olavo M. Vasconcelos; Marinos C. Dalakas



Vascular Thoracic Outlet Syndrome  

Microsoft Academic Search

  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

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