syndrome

Summary

Summary: A characteristic symptom complex.

Top Publications

  1. Häuser W, Urrútia G, Tort S, Uçeyler N, Walitt B. Serotonin and noradrenaline reuptake inhibitors (SNRIs) for fibromyalgia syndrome. Cochrane Database Syst Rev. 2013;:CD010292 pubmed publisher
    Fibromyalgia syndrome (FMS) is a clinically well-defined chronic condition of unknown etiology characterized by chronic widespread pain that often co-exists with sleep disturbances, cognitive dysfunction and fatigue...
  2. Guerreiro R, Lohmann E, Brás J, Gibbs J, Rohrer J, Gurunlian N, et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013;70:78-84 pubmed publisher
    ..Even for complex syndromes such as dementia, exome sequencing has proven to be a rapid and cost-effective tool to identify genetic mutations, allowing for the association of clinical phenotypes with unexpected molecular underpinnings. ..
  3. Bagdure D, Rewers A, Campagna E, Sills M. Epidemiology of hyperglycemic hyperosmolar syndrome in children hospitalized in USA. Pediatr Diabetes. 2013;14:18-24 pubmed publisher
    Previous studies of hyperglycemic hyperosmolar syndrome (HHS) in children are limited to case series or single-institution reviews, which describe HHS primarily in children with type 2 diabetes mellitus...
  4. Capo Chichi J, Bharti S, Sommers J, Yammine T, Chouery E, Patry L, et al. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat. 2013;34:103-7 pubmed publisher
    ..DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and abnormal skin ..
  5. Basel Vanagaite L, Dallapiccola B, Ramirez Solis R, Segref A, Thiele H, Edwards A, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012;91:998-1010 pubmed publisher
    Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene...
  6. Cotten M, Watson S, Kellam P, Al Rabeeah A, Makhdoom H, Assiri A, et al. Transmission and evolution of the Middle East respiratory syndrome coronavirus in Saudi Arabia: a descriptive genomic study. Lancet. 2013;382:1993-2002 pubmed publisher
    Since June, 2012, Middle East respiratory syndrome coronavirus (MERS-CoV) has, worldwide, caused 104 infections in people including 49 deaths, with 82 cases and 41 deaths reported from Saudi Arabia...
  7. Yalcin A, Uçar S, Gumuslu S, Strauss L. Effects of omalizumab on eosinophil cationic peptide, 25-hydroxyvitamin-D, IL-1? and sCD200 in cases of Samter's syndrome: 36 months follow-up. Immunopharmacol Immunotoxicol. 2013;35:524-7 pubmed publisher
    ..of nasal polyposis, asthma and intolerance to aspirin and related chemicals, recently designated as Samter's syndrome, is an inflammatory condition of unknown pathogenesis...
  8. Jaureguiberry G, de la Dure Molla M, Parry D, Quentric M, Himmerkus N, Koike T, et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol. 2012;122:1-6 pubmed publisher
    ..This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta...
  9. Lindhurst M, Parker V, Payne F, Sapp J, Rudge S, Harris J, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012;44:928-33 pubmed publisher
    ..We performed exome sequencing of DNA from unaffected and affected cells from an individual with an unclassified syndrome of congenital progressive segmental overgrowth of fibrous and adipose tissue and bone and identified the cancer-..

More Information

Publications98

  1. Lambru G, Miller S, Matharu M. The red ear syndrome. J Headache Pain. 2013;14:83 pubmed publisher
    Red Ear Syndrome (RES) is a very rare disorder, with approximately 100 published cases in the medical literature...
  2. Uzel G, Sampaio E, Lawrence M, Hsu A, Hackett M, Dorsey M, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013;131:1611-23 pubmed publisher
    ..We identified 5 children with polyendocrinopathy, enteropathy, and dermatitis reminiscent of IPEX syndrome; all but 1 had a variety of mucosal and disseminated fungal infections...
  3. Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado P, et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012;44:699-703 pubmed publisher
    Hereditary mixed polyposis syndrome (HMPS) is characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals...
  4. Molin A, Andrieux J, Koolen D, Malan V, Carella M, Colleaux L, et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet. 2012;49:104-9 pubmed publisher
    ..A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value...
  5. Samaco R, Mandel Brehm C, McGraw C, Shaw C, McGill B, Zoghbi H. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012;44:206-11 pubmed publisher
    ..These data indicate that increased MeCP2 levels affect molecular pathways underlying anxiety and social behavior and provide new insight into potential therapies for MECP2-related disorders. ..
  6. Mesen T, Yu B, Richter K, Widra E, DeCherney A, Segars J. The prevalence of genuine empty follicle syndrome. Fertil Steril. 2011;96:1375-7 pubmed publisher
    To describe the prevalence of "genuine" empty follicle syndrome (EFS) and "false" EFS at assisted reproductive technology (ART). Retrospective cohort. Large private fertility center...
  7. Wolpe N, Moore J, Rae C, Rittman T, Altena E, Haggard P, et al. The medial frontal-prefrontal network for altered awareness and control of action in corticobasal syndrome. Brain. 2014;137:208-20 pubmed publisher
    The volitional impairments of alien limb and apraxia are a defining feature of the corticobasal syndrome, but a limited understanding of their neurocognitive aetiology has hampered progress towards effective treatments...
  8. Giuliano A, Li H, Mesholam Gately R, Sorenson S, Woodberry K, Seidman L. Neurocognition in the psychosis risk syndrome: a quantitative and qualitative review. Curr Pharm Des. 2012;18:399-415 pubmed
    ..Our primary aim is to provide a meta-analysis of neurocognitive findings from 14 studies of psychosis risk syndrome (PRS) individuals published through February 2011, and compare the resulting profile with that synthesized by ..
  9. Liu Y, Jesus A, Marrero B, Yang D, Ramsey S, Sanchez G, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507-518 pubmed publisher
    ..Funded by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases; ClinicalTrials.gov number, NCT00059748.). ..
  10. Gilchrist F, Webb A, Bright Thomas R, Jones A. Successful treatment of cepacia syndrome with a combination of intravenous cyclosporin, antibiotics and oral corticosteroids. J Cyst Fibros. 2012;11:458-60 pubmed publisher
    ..The clinical manifestations of BCC infection are varied but can include cepacia syndrome, which is a rapidly progressing necrotising pneumonia with an almost universally fatal outcome...
  11. Tanaka M, Watanabe Y. Risk-management syndrome. Int J Psychiatry Clin Pract. 2012;16:312-5 pubmed publisher
    ..We refer to those diseases as risk-management syndrome, defined as an illness caused by the central sensitization and classical conditioning of over-risk-management ..
  12. Kvarnung M, Nilsson D, Lindstrand A, Korenke G, Chiang S, Blennow E, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013;50:521-8 pubmed publisher
    To delineate the molecular basis for a novel autosomal recessive syndrome, characterised by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic ..
  13. Corsello G, Giuffrè M. Congenital malformations. J Matern Fetal Neonatal Med. 2012;25 Suppl 1:25-9 pubmed publisher
    ..Because of their increasing life expectancy, congenital malformations represent today a major issue in the health services for the amount of resources they need for the requested multidisciplinary assistance...
  14. Yeniay L, Karaca C, Caliskan C, Firat O, Ersin S, Akgun E. Abdominal cocoon syndrome as a rare cause of mechanical bowel obstruction: report of two cases. Ulus Travma Acil Cerrahi Derg. 2011;17:557-60 pubmed publisher
    ..They both received early intervention, thus preventing the need for bowel resection. The pathology of both membranes showed inflammation. ..
  15. Ushigome Y, Kano Y, Ishida T, Hirahara K, Shiohara T. Short- and long-term outcomes of 34 patients with drug-induced hypersensitivity syndrome in a single institution. J Am Acad Dermatol. 2013;68:721-8 pubmed publisher
    Drug-induced hypersensitivity syndrome (DIHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe systemic hypersensitivity reaction caused by specific drugs, in which herpesvirus reactivations and organ dysfunction ..
  16. Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, et al. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013;161A:2604-8 pubmed publisher
    The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven...
  17. Koolen D, Kramer J, Neveling K, Nillesen W, Moore Barton H, Elmslie F, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012;44:639-41 pubmed publisher
    We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features...
  18. van der Linde D, Verhagen H, Moelker A, van de Laar I, Van Herzeele I, De Backer J, et al. Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms. J Vasc Surg. 2013;57:96-102 pubmed publisher
    Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis...
  19. Shah R, Bellamy S, Lee J, Cantu E, Diamond J, MANGALMURTI N, et al. Early plasma soluble receptor for advanced glycation end-product levels are associated with bronchiolitis obliterans syndrome. Am J Transplant. 2013;13:754-9 pubmed publisher
    Early epithelial injury after lung transplantation may contribute to development of bronchiolitis obliterans syndrome (BOS)...
  20. Fei P, Zhang Q, Li J, Zhao P. Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous. Br J Ophthalmol. 2013;97:1262-7 pubmed publisher
    To describe the clinical manifestations and treatment outcomes in a retrospective case series of morning glory syndrome (MGS) associated with persistent hyperplastic primary vitreous (PHPV)...
  21. Otani K, Takegami M, Fukumori N, Sekiguchi M, Onishi Y, Yamazaki S, et al. Locomotor dysfunction and risk of cardiovascular disease, quality of life, and medical costs: design of the Locomotive Syndrome and Health Outcome in Aizu Cohort Study (LOHAS) and baseline characteristics of the study population. J Orthop Sci. 2012;17:261-71 pubmed publisher
    ..The present study determined baseline characteristics of participants in the Locomotive Syndrome and Health Outcome in Aizu Cohort Study (LOHAS)...
  22. Zhou Q, Kijlstra A, Hou S, Yu H, Zhang X, Li X, et al. Lack of association of miR-146a and Ets-1 gene polymorphisms with Fuchs uveitis syndrome in Chinese Han patients. Mol Vis. 2012;18:426-30 pubmed
    ..of microRNA-146a (miR-146a) and V-Ets oncogene homolog 1 (Ets-1) gene polymorphisms with Fuchs Uveitis syndrome (FUS)...
  23. Doros L, Yang J, Dehner L, Rossi C, Skiver K, Jarzembowski J, et al. DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer. 2012;59:558-60 pubmed publisher
    ..most common childhood sarcoma and is a component of the familial pleuropulmonary blastoma (PPB)-predisposition syndrome. Using the PPB model, we hypothesized that DICER1 mutations would be found in familial and sporadic forms of ERMS...
  24. De Jesus J, Imane Z, Senée V, Romero S, Guillausseau P, Balafrej A, et al. SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. Diabetes Metab. 2013;39:281-5 pubmed publisher
    ..features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever and arthritis; she also presented with a fibrotic mediastinal mass...
  25. Redondo L, Farber M, Venzano A, Jost B, Parma Y, Fernandez Miyakawa M. Sudden death syndrome in adult cows associated with Clostridium perfringens type E. Anaerobe. 2013;20:1-4 pubmed publisher
    ..The sequences of several housekeeping genes of these isolates were analyzed and compared with those obtained from calves in North America showing a clonal unique lineage...
  26. Louie S, Zeki A, Schivo M, Chan A, Yoneda K, Avdalovic M, et al. The asthma-chronic obstructive pulmonary disease overlap syndrome: pharmacotherapeutic considerations. Expert Rev Clin Pharmacol. 2013;6:197-219 pubmed publisher
    Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is a commonly encountered yet loosely defined clinical entity...
  27. Järvinen K, Nowak Wegrzyn A. Food protein-induced enterocolitis syndrome (FPIES): current management strategies and review of the literature. J Allergy Clin Immunol Pract. 2013;1:317-22 pubmed publisher
    Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal food hypersensitivity that manifests as profuse, repetitive vomiting, often with diarrhea, leading to acute dehydration and lethargy or weight loss ..
  28. Vemulapalli K, Rex D. Failure to recognize serrated polyposis syndrome in a cohort with large sessile colorectal polyps. Gastrointest Endosc. 2012;75:1206-10 pubmed publisher
    Serrated polyposis syndrome (SPS) is a rare condition of multiple serrated colorectal polyps and cancers. Colorectal cancer risk is increased in SPS...
  29. Siegel D, Tefft K, Kelly T, Johnson C, Metry D, Burrows P, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke. 2012;43:1672-4 pubmed publisher
    ..The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS...
  30. Fabre A, Charroux B, Martinez Vinson C, Roquelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90:689-92 pubmed publisher
    Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37...
  31. Lai H, North C, Andriole G, Sayuk G, Hong B. Polysymptomatic, polysyndromic presentation of patients with urological chronic pelvic pain syndrome. J Urol. 2012;187:2106-12 pubmed publisher
    ..Somatization disorder has been described in several comorbid functional syndromes of urological chronic pelvic pain syndrome, such as irritable bowel syndrome...
  32. Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, et al. Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS ONE. 2012;7:e35986 pubmed publisher
    MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract...
  33. RUFFNER M, Ruymann K, Barni S, Cianferoni A, Brown Whitehorn T, Spergel J. Food protein-induced enterocolitis syndrome: insights from review of a large referral population. J Allergy Clin Immunol Pract. 2013;1:343-9 pubmed publisher
    ..5% of patients who had a milk trigger reacted to soy. There is no laboratory test to identify foods that cause FPIES, and clinician-supervised oral food challenge is the only definitive test available. ..
  34. Omrani A, Matin M, Haddad Q, Al Nakhli D, Memish Z, Albarrak A. A family cluster of Middle East Respiratory Syndrome Coronavirus infections related to a likely unrecognized asymptomatic or mild case. Int J Infect Dis. 2013;17:e668-72 pubmed publisher
    Ninety confirmed cases of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) have been reported to the World Health Organization. We report the details of a second family cluster of MERS-CoV infections from Riyadh, Saudi Arabia.
  35. Cereda A, Carey J. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7:81 pubmed publisher
    The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q...
  36. Beck Fruchter R, Weiss A, Lavee M, Geslevich Y, Shalev E. Empty follicle syndrome: successful treatment in a recurrent case and review of the literature. Hum Reprod. 2012;27:1357-67 pubmed publisher
    Empty follicle syndrome is a condition in which no oocytes are retrieved after an apparently adequate ovarian response to stimulation and meticulous follicular aspiration. It is a rare condition of obscure etiology...
  37. Hucthagowder V, Liu T, Paciorkowski A, Thio L, Keller M, Anderson C, et al. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012;55:485-9 pubmed publisher
    Chromosome 2p15p16.1 microdeletion is an emerging syndrome recently described in patients with dysmorphic facial features, congenital microcephaly, mild to moderate developmental delay and neurodevelopmental abnormalities...
  38. Ganesan I, Thomas T. More than meets the smile: facial muscle expression in children with Ochoa syndrome. Med J Malaysia. 2011;66:507-9 pubmed
    The Ochoa syndrome is the association of a non-neurogenic neurogenic bladder with abnormal facial muscle expression. Patients are at risk for renal failure due to obstructive uropathy...
  39. Alayli G, Durmus D, Ozkaya O, Sen H, Genc G, Kuru O. Frequency of juvenile fibromyalgia syndrome in children with familial Mediterranean fever: effects on depression and quality of life. Clin Exp Rheumatol. 2011;29:S127-32 pubmed
    To determine the prevalence of juvenile fibromyalgia syndrome (JFMS) in children with familial Mediterranean fever (FMF) and to evaluate quality of life (QoL) and depression.
  40. An J, Lee J, Lee H, Yu E, Lee D, Shim J, et al. Drug rash with eosinophilia and systemic symptoms syndrome following cholestatic hepatitis A: a case report. Korean J Hepatol. 2012;18:84-8 pubmed publisher
    ..Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a severe, drug-induced hypersensitivity reaction characterized by skin rash, fever, lymph-node enlargement, ..
  41. Davis R, Casini S, van den Berg C, Hoekstra M, Remme C, Dambrot C, et al. Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease. Circulation. 2012;125:3079-91 pubmed publisher
    ..To address this issue, we generated multiple PSC lines containing a Na(+) channel mutation causing a cardiac Na(+) channel overlap syndrome.
  42. Alexopoulos H, Dalakas M. Immunology of stiff person syndrome and other GAD-associated neurological disorders. Expert Rev Clin Immunol. 2013;9:1043-53 pubmed publisher
    ..In all associated syndromes, namely stiff person syndrome, cerebellar ataxia, epilepsy, limbic encephalitis or abnormal eye movements, anti-GAD antibodies are detected at ..
  43. Gallant A, Lundgren J, Drapeau V. The night-eating syndrome and obesity. Obes Rev. 2012;13:528-36 pubmed publisher
    ..The night-eating syndrome (NES) is characterized by increased late-night eating, insomnia, a depressed mood and distress...
  44. Peltekova I, Macdonald A, Armour C. Microdeletion on 3p25 in a patient with features of 3p deletion syndrome. Am J Med Genet A. 2012;158A:2583-6 pubmed publisher
    The rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3...
  45. Tibballs J, Li R, Tibballs H, Gershwin L, Winkel K. Australian carybdeid jellyfish causing "Irukandji syndrome". Toxicon. 2012;59:617-25 pubmed publisher
    The Australian carybdeid jellyfish associated with Irukandji syndrome is Carukia barnesi, (Barnes' jellyfish)...
  46. Rivière J, van Bon B, Hoischen A, Kholmanskikh S, O Roak B, Gilissen C, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012;44:440-4, S1-2 pubmed publisher
    ..Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal ..
  47. Mai W, Hu X, Lu Z, Peng F, Wang Y. Cerebrospinal fluid levels of soluble amyloid precursor protein and ?-amyloid 42 in patients with multiple sclerosis, neuromyelitis optica and clinically isolated syndrome. J Int Med Res. 2011;39:2402-13 pubmed
    ..42 (A?42) in the cerebrospinal fluid (CSF) of 42 MS, 10 neuromyelitis optica and 25 clinically isolated syndrome patients and 21 healthy controls, and analysed the correlation between ?sAPP and A?42 levels and relevant ..
  48. Miceli Sopo S, Greco M, Monaco S, Tripodi S, Calvani M. Food protein-induced enterocolitis syndrome, from practice to theory. Expert Rev Clin Immunol. 2013;9:707-15 pubmed publisher
    Food protein-induced enterocolitis syndrome (FPIES) is an allergic disease, probably non-IgE-mediated, with expression predominantly in the GI tract. The most characteristic symptom is repeated, debilitating vomiting...
  49. Blackburn C, McDermott M, Bourke B. Clinical presentation of and outcome for solitary rectal ulcer syndrome in children. J Pediatr Gastroenterol Nutr. 2012;54:263-5 pubmed publisher
    Solitary rectal ulcer syndrome (SRUS) is an uncommon but troublesome and easily misdiagnosed condition of childhood...
  50. Hamaguchi Y, Fujimoto M, Matsushita T, Kaji K, Komura K, Hasegawa M, et al. Common and distinct clinical features in adult patients with anti-aminoacyl-tRNA synthetase antibodies: heterogeneity within the syndrome. PLoS ONE. 2013;8:e60442 pubmed publisher
    ..To identify similarities and differences in the clinical features of adult Japanese patients with individual anti-aminoacyl-tRNA synthetase antibodies (anti-ARS Abs)...
  51. Magro C, Wang X. Cocaine-associated retiform purpura: a C5b-9-mediated microangiopathy syndrome associated with enhanced apoptosis and high levels of intercellular adhesion molecule-1 expression. Am J Dermatopathol. 2013;35:722-30 pubmed publisher
    ..Levamisole likely works synergistically with cocaine in the propagation of this syndromic complex...
  52. Stunf S, Petrovec M, Zigon N, Hawlina M, Kraut A, de Groot Mijnes J, et al. High concordance of intraocular antibody synthesis against the rubella virus and Fuchs heterochromic uveitis syndrome in Slovenia. Mol Vis. 2012;18:2909-14 pubmed
    To prospectively study the relationship between Fuchs heterochromic uveitis syndrome (FHUS) and intraocular production of specific antibodies against the rubella virus (RV) in Slovenia.
  53. Weng Y, Chen N, Han Y, Xing Y, Li J. Clinical and laboratory characteristics of severe fever with thrombocytopenia syndrome in Chinese patients. Braz J Infect Dis. 2014;18:88-91 pubmed publisher
    Severe fever with thrombocytopenia syndrome (SFTS) associated with severe fever with thrombocytopenia syndrome virus (SFTSV) is an emerging infectious disease...
  54. Kelly F, Kennedy V, Jain R, Sindhwani N, Finlen Copeland C, Snyder L, et al. Epithelial clara cell injury occurs in bronchiolitis obliterans syndrome after human lung transplantation. Am J Transplant. 2012;12:3076-84 pubmed publisher
    Bronchiolitis obliterans syndrome (BOS) is a condition of progressive airflow obstruction that affects a majority of lung transplant recipients and limits long-term posttransplant survival...
  55. Field M, Scheffer I, Gill D, Wilson M, Christie L, Shaw M, et al. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet. 2012;20:806-9 pubmed publisher
    ..sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10)...
  56. Campos M R, González L R, Saldías F R, Klaassen P R, Alarcón C E. [Doege-Potter syndrome: hypoglycemia secondary to solitary fibrous tumor of the pleura. Report of one case]. Rev Med Chil. 2012;140:353-7 pubmed publisher
    Doege-Potter syndrome is characterized for hypoglycemia associated with solitary pleural fibrous tumors. We report a 38-year-old woman with a history of weight loss, malaise and edema...
  57. Piro E, Piccione M, Marrone G, Giuffrè M, Corsello G. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery. Ital J Pediatr. 2013;39:32 pubmed publisher
    ..Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, ..
  58. Montero Marín J, Monticelli F, Casas M, Roman A, Tomás I, Gili M, et al. Burnout syndrome among dental students: a short version of the "Burnout Clinical Subtype Questionnaire" adapted for students (BCSQ-12-SS). BMC Med Educ. 2011;11:103 pubmed publisher
  59. Garcia Garcia F, Gutierrez Avila G, Alfaro Acha A, Amor Andres M, De Los Angeles De La Torre Lanza M, Escribano Aparicio M, et al. The prevalence of frailty syndrome in an older population from Spain. The Toledo Study for Healthy Aging. J Nutr Health Aging. 2011;15:852-6 pubmed
    To assess the prevalence of the frailty syndrome and its associated variables among the older adult population in the province of Toledo (Spain).
  60. Hemida M, Perera R, Wang P, Alhammadi M, Siu L, Li M, et al. Middle East Respiratory Syndrome (MERS) coronavirus seroprevalence in domestic livestock in Saudi Arabia, 2010 to 2013. Euro Surveill. 2013;18:20659 pubmed
    ..neutralisation (ppNT) and microneutralisation (MNT) tests detected no antibodies to Middle East Respiratory Syndrome coronavirus (MERS-CoV) in sheep (n= 100), goats (n= 45), cattle (n= 50) and chickens (n= 240)...
  61. Moroni M, Elliott T, Deutz N, Olsen C, Owens R, Christensen C, et al. Accelerated hematopoietic syndrome after radiation doses bridging hematopoietic (H-ARS) and gastrointestinal (GI-ARS) acute radiation syndrome: early hematological changes and systemic inflammatory response syndrome in minipig. Int J Radiat Biol. 2014;90:363-72 pubmed publisher
    To characterize acute radiation syndrome (ARS) sequelae at doses intermediate between the bone marrow (H-ARS) and full gastrointestinal (GI-ARS) syndrome.
  62. Aucott J, Crowder L, Kortte K. Development of a foundation for a case definition of post-treatment Lyme disease syndrome. Int J Infect Dis. 2013;17:e443-9 pubmed publisher
    The study objective is to demonstrate the clinical and research utility of an operationalized definition of post-treatment Lyme disease syndrome (PTLDS), as proposed by the Infectious Diseases Society of America.
  63. Villafane J, Atallah J, Gollob M, Maury P, Wolpert C, Gebauer R, et al. Long-term follow-up of a pediatric cohort with short QT syndrome. J Am Coll Cardiol. 2013;61:1183-91 pubmed publisher
    The purpose of this study was to define the clinical characteristics and long-term follow-up of pediatric patients with short QT syndrome (SQTS).
  64. Molinari E, Mirabelli M, Raimondo S, Brussino A, Gennarelli G, Bongioanni F, et al. Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage. Reprod Biomed Online. 2013;26:148-56 pubmed publisher
    ..paper reports a case of recurrent miscarriage in a patient affected by a variant phenotype of sperm macrocephaly syndrome (SMS)...
  65. Treede H, Glanville A, Klepetko W, Aboyoun C, Vettorazzi E, Lama R, et al. Tacrolimus and cyclosporine have differential effects on the risk of development of bronchiolitis obliterans syndrome: results of a prospective, randomized international trial in lung transplantation. J Heart Lung Transplant. 2012;31:797-804 pubmed publisher
    Chronic lung allograft dysfunction, which manifests as bronchiolitis obliterans syndrome (BOS), is recognized as the primary cause of morbidity and mortality after lung transplantation...
  66. Witteveen J, van Thiel S, Romijn J, Hamdy N. Hungry bone syndrome: still a challenge in the post-operative management of primary hyperparathyroidism: a systematic review of the literature. Eur J Endocrinol. 2013;168:R45-53 pubmed publisher
    Hungry bone syndrome (HBS) refers to the rapid, profound, and prolonged hypocalcaemia associated with hypophosphataemia and hypomagnesaemia, and is exacerbated by suppressed parathyroid hormone (PTH) levels, which follows ..
  67. Santos V, Brito E, Paz B, Leal C. Rib plasmacytoma and IgA multiple myeloma with hyperviscosity syndrome. Arch Iran Med. 2012;15:517-9 pubmed publisher
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    ..an overview of clinical manifestations, diagnosis and pathophysiology of food protein-induced enterocolitis syndrome (FPIES), an under-recognized and often misdiagnosed nonimmunoglobulin E-mediated food hypersensitivity...
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    ..The index case developed corticobasal syndrome, previously not reported in cerebrotendinous xanthomatosis...
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    The overlap syndrome, defined by concurrent existence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA), is associated with poor outcomes...
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    Multiple evanescent white dot syndrome (MEWDS), an entity belonging to the group of white dot syndromes, is characterized by pale spots at the posterior pole as a sign of inflammatory changes in the choroid and pigment epithelium...
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    ..Population-based data on the demographics and clinical characteristics of patients with multiple unrelated drug class intolerances noted in their medical records are lacking...
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    ..In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin.
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    Although an autoimmune mechanism has been postulated for acute encephalitis syndrome (AES) complicated by myocarditis, immunomodulatory treatment strategies are still under investigation...
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    Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. STXBP1 and ARX mutations have been reported in patients with OS...
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    To describe the incidence, epidemiology, clinical presentation and clinical outcome of children with the syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) in a population-based study.
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    ..Food protein-induced enterocolitis syndrome (FPIES) is an uncommon nonIgE-mediated gastrointestinal food hypersensitivity of infancy, characterized by severe ..
  84. Wooderchak Donahue W, McDonald J, O Fallon B, Upton P, Li W, Roman B, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet. 2013;93:530-7 pubmed publisher
    ..described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome)...
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    Gizzard erosion and ulceration syndrome (GEU) was described for the first time in the 1930s. The main focus of early studies was on nutritional deficiencies and peroxidation of highly polyunsaturated fatty acids as causative factors...
  86. Carrette T, Underwood A, Seymour J. Irukandji syndrome: a widely misunderstood and poorly researched tropical marine envenoming. Diving Hyperb Med. 2012;42:214-23 pubmed
    Irukandji syndrome is a poorly defined set of symptoms that occur after envenoming by certain species of jellyfish, primarily cubozoans or 'box jellyfish'...
  87. Pauciullo A, Fleck K, Luhken G, Di Berardino D, Erhardt G. Dual-color high-resolution fiber-FISH analysis on lethal white syndrome carriers in sheep. Cytogenet Genome Res. 2013;140:46-54 pubmed publisher
    ..The applied method allowed locating the potential breakpoints, thus permitting further interesting prospective investigations also in the field of the fragile sites in sheep...
  88. Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012;44:636-8 pubmed publisher
    The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior...
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    ..There have been few reports on the association of rheumatoid arthritis (RA) with anti-neutrophil cytoplasmic antigen (ANCA)-associated systemic vasculitides...