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Sample records for mowat-wilson syndrome mws

  1. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

    PubMed

    Ariss, Michelle; Natan, Kristina; Friedman, Neil; Traboulsi, Elias I

    2012-09-01

    Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.

  2. Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

    PubMed

    Teraishi, Mika; Takaishi, Mikiro; Nakajima, Kimiko; Ikeda, Mitsunori; Higashi, Yujiro; Shimoda, Shinji; Asada, Yoshinobu; Hijikata, Atsushi; Ohara, Osamu; Hiraki, Yoko; Mizuno, Seiji; Fukada, Toshiyuki; Furukawa, Takahisa; Wakamatsu, Nobuaki; Sano, Shigetoshi

    2017-04-19

    Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility. MOWS patients showed a thinner dermal thickness and electron microscopy revealed miniaturized collagen fibrils. Notably, mice with a mesoderm-specific deletion of the Zeb2 gene (Zeb2-cKO) demonstrated redundant skin, dermal hypoplasia and miniaturized collagen fibrils similar to those of MOWS patients. Dermal fibroblasts derived from Zeb2-cKO mice showed a decreased expression of extracellular matrix (ECM) molecules, such as collagens, whereas molecules involved in degradation of the ECM, such as matrix metalloproteinases (MMPs), were up-regulated. Furthermore, bleomycin-induced skin fibrosis was attenuated in Zeb2-cKO mice. We conclude that MOWS patients exhibit an EDS-like skin phenotype through alterations of collagen fibrillogenesis due to ZEB2 mutations or deletions.

  3. Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

    PubMed

    Kluk, Michael Joseph; An, Yu; James, Philip; Coulter, David; Harris, David; Wu, Bai-Lin; Shen, Yiping

    2011-05-01

    The molecular testing options available for the diagnosis of genetic disorders are numerous and include a variety of different assay platforms. The consultative input of molecular pathologists and cytogeneticists, working closely with the ordering clinicians, is often important for definitive diagnosis. Herein, we describe two patients who had long histories of unexplained signs and symptoms with a high clinical suspicion of an underlying genetic etiology. Initial molecular testing in both cases was negative, but the application of high-resolution array comparative genomic hybridization technology lead to definitive diagnosis in both cases. We summarize the clinical findings and molecular testing in each case, discuss the differential diagnoses, and review the clinical and pathological findings of Mowat-Wilson syndrome. This report highlights the importance for those involved in molecular testing to know the nature of the underlying genetic abnormalities associated with the suspected diagnosis, to recognize the limitations of each testing platform, and to persistently pursue repeat testing using high-resolution technologies when indicated. This concept is applicable to both germline and somatic molecular genetic testing. Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  4. Genetics Home Reference: Mowat-Wilson syndrome

    MedlinePlus

    ... E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  5. Work environments of people with mobility impairments and limitations: Mobility Device User Work Survey (MWS).

    PubMed

    Morgan, Kerri A; Gottlieb, Meghan; Hollingsworth, Holly H; Gray, David B

    2014-01-01

    Few studies of employed people who use wheelchairs, canes, crutches or walkers have been reported in the literature. One reason for this paucity of research reports is that surveys are most often made of unemployed individuals with disabilities a defined broadly. Understanding the work site of successfully employed people who use mobility devices requires the development of as survey that can be used to examine the important features of worksite from employees who use mobility devices at their worksites. This article describes the development and psychometrics of a survey on currently employed people with lower limb impairments and mobility limitations who use mobility devices. The items in the Mobility Device User Work Survey (MWS) were based on interviews and survey items pilot tested on employed mobility device users. A sample of 183 employed people who use mobility devices including wheelchairs, canes, crutches or walkers was recruited using internet postings on disability-related organizations. The average age of the sample was 46.3, most were college educated, 72% used wheelchairs and the average number of years of employment was 24. The MWS was completed by 183 people who met the inclusion criteria. The survey was sent to these same people a second time and 132 of them returned the second survey. The MWS consists of 106 questions on demographic, work and worksite characteristics and 58 subjective evaluation items that were organized into five scales. The internal consistencies (Cronbach's alpha) of the five scales were moderate (0.72) to good (0.93). Stability values of the five scales were calculated using correlations between forms and ranged from 0.70 to 0.80. The evaluative scales were analyzed using exploratory factor analysis. The MWS provides a tool for studying the variables that influence employed people who use mobility devices. Future studies of unemployed people who use mobility devices may benefit from using the results of the MWS to plan

  6. Electrical Evaluation of RCA MWS5001D Random Access Memory, Volume 5, Appendix D

    NASA Technical Reports Server (NTRS)

    Klute, A.

    1979-01-01

    The electrical characterization and qualification test results are presented for the RCA MWS 5001D random access memory. The tests included functional tests, AC and DC parametric tests, AC parametric worst-case pattern selection test, determination of worst-case transition for setup and hold times, and a series of schmoo plots. Average input high current, worst case input high current, output low current, and data setup time are some of the results presented.

  7. Electrical Evaluation of RCA MWS5501D Random Access Memory, Volume 2, Appendix a

    NASA Technical Reports Server (NTRS)

    Klute, A.

    1979-01-01

    The electrical characterization and qualification test results are presented for the RCA MWS5001D random access memory. The tests included functional tests, AC and DC parametric tests, AC parametric worst-case pattern selection test, determination of worst-case transition for setup and hold times, and a series of schmoo plots. The address access time, address readout time, the data hold time, and the data setup time are some of the results surveyed.

  8. Electrical Evaluation of RCA MWS5001D Random Access Memory, Volume 4, Appendix C

    NASA Technical Reports Server (NTRS)

    Klute, A.

    1979-01-01

    The electrical characterization and qualification test results are presented for the RCA MWS5001D random access memory. The tests included functional tests, AC and DC parametric tests, AC parametric worst-case pattern selection test, determination of worst-case transition for setup and hold times, and a series of schmoo plots. Statistical analysis data is supplied along with write pulse width, read cycle time, write cycle time, and chip enable time data.

  9. Disease dynamics of Montipora white syndrome within Kaneohe Bay, Oahu, Hawaii: distribution, seasonality, virulence, and transmissibility.

    PubMed

    Aeby, G S; Ross, M; Williams, G J; Lewis, T D; Works, T M

    2010-07-26

    We report on an investigation of Montipora white syndrome (MWS), which is a coral disease reported from Hawaii, U.S.A., that results in tissue loss. Disease surveys of Montipora capitata within Kaneohe Bay (Oahu) found colonies that were affected by MWS on 9 reefs within 3 regions of Kaneohe Bay (south, central, north). Mean MWS prevalence ranged from 0.02 to 0.87% and average number of MWS cases per survey site ranged from 1 to 28 colonies. MWS prevalence and number of cases were significantly lower in the central region as compared to those in the north and south regions of Kaneohe Bay. There was a positive relationship between host abundance and MWS prevalence, and differences in host abundance between sites explained approximately 27% of the variation in MWS prevalence. Reefs in central Kaneohe Bay had lower M. capitata cover and lower MWS levels. MWS prevalence on reefs was neither significantly different between seasons (spring versus fall) nor among 57 tagged colonies that were monitored through time. MWS is a chronic and progressive disease causing M. capitata colonies to lose an average of 3.1% of live tissue mo(-1). Case fatality rate was 28% after 2 yr but recovery occurred in some colonies (32%). Manipulative experiments showed that the disease is acquired through direct contact. This is the first study to examine the dynamics of MWS within Hawaii, and our findings suggest that MWS has the potential to degrade Hawaii's reefs through time.

  10. A 3.7 Mb Deletion Encompassing ZEB2 Causes a Novel Polled and Multisystemic Syndrome in the Progeny of a Somatic Mosaic Bull

    PubMed Central

    Capitan, Aurélien; Allais-Bonnet, Aurélie; Pinton, Alain; Marquant-Le Guienne, Brigitte; Le Bourhis, Daniel; Grohs, Cécile; Bouet, Stéphan; Clément, Laëtitia; Salas-Cortes, Laura; Venot, Eric; Chaffaux, Stéphane; Weiss, Bernard; Delpeuch, Arnaud; Noé, Guy; Rossignol, Marie-Noëlle; Barbey, Sarah; Dozias, Dominique; Cobo, Emilie; Barasc, Harmonie; Auguste, Aurélie; Pannetier, Maëlle; Deloche, Marie-Christine; Lhuilier, Emeline; Bouchez, Olivier; Esquerré, Diane; Salin, Gérald; Klopp, Christophe; Donnadieu, Cécile; Chantry-Darmon, Céline; Hayes, Hélène; Gallard, Yves; Ponsart, Claire; Boichard, Didier; Pailhoux, Eric

    2012-01-01

    Polled and Multisystemic Syndrome (PMS) is a novel developmental disorder occurring in the progeny of a single bull. Its clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and cardiac anomalies. PMS is also characterized by a deviation of the sex-ratio, suggesting male lethality during pregnancy. Using Mendelian error mapping and whole-genome sequencing, we identified a 3.7 Mb deletion on the paternal bovine chromosome 2 encompassing ARHGAP15, GTDC1 and ZEB2 genes. We then produced control and affected 90-day old fetuses to characterize this syndrome by histological and expression analyses. Compared to wild type individuals, affected animals showed a decreased expression of the three deleted genes. Based on a comparison with human Mowat-Wilson syndrome, we suggest that deletion of ZEB2, is responsible for most of the effects of the mutation. Finally sperm-FISH, embryo genotyping and analysis of reproduction records confirmed somatic mosaicism in the founder bull and male-specific lethality during the first third of gestation. In conclusion, we identified a novel locus involved in bovid horn ontogenesis and suggest that epithelial-to-mesenchymal transition plays a critical role in horn bud differentiation. We also provide new insights into the pathogenicity of ZEB2 loss of heterozygosity in bovine and humans and describe the first case of male-specific lethality associated with an autosomal locus in a non-murine mammalian species. This result sets PMS as a unique model to study sex-specific gene expression/regulation. PMID:23152852

  11. Electrical Evaluation of RCA MWS5001D Random Access Memory, Volume 1

    NASA Technical Reports Server (NTRS)

    Klute, A.

    1979-01-01

    Electrical characterization and qualification tests were performed on the RCA MWS5001D, 1024 by 1-bit, CMOS, random access memory. Characterization tests were performed on five devices. The tests included functional tests, AC parametric worst case pattern selection test, determination of worst-case transition for setup and hold times and a series of schmoo plots. The qualification tests were performed on 32 devices and included a 2000 hour burn in with electrical tests performed at 0 hours and after 168, 1000, and 2000 hours of burn in. The tests performed included functional tests and AC and DC parametric tests. All of the tests in the characterization phase, with the exception of the worst-case transition test, were performed at ambient temperatures of 25, -55 and 125 C. The worst-case transition test was performed at 25 C. The preburn in electrical tests were performed at 25, -55, and 125 C. All burn in endpoint tests were performed at 25, -40, -55, 85, and 125 C.

  12. Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.

    PubMed

    Ahmadi, Neda; Brewer, Carmen C; Zalewski, Christopher; King, Kelly A; Butman, John A; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H Jeffrey

    2011-08-01

    Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. Prospective (2003-2009). National Institutes of Health. Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.

  13. Cryopyrin-Associated Periodic Syndromes: Otolaryngologic and Audiologic Manifestations

    PubMed Central

    Ahmadi, Neda; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Butman, John A.; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H. Jeffrey

    2012-01-01

    Objective Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. Study Design Prospective (2003–2009). Setting National Institutes of Health. Subjects and Methods Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. Results Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. Conclusion CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists

  14. Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.

    PubMed

    Mehr, Sam; Allen, Roger; Boros, Christina; Adib, Navid; Kakakios, Alyson; Turner, Paul J; Rogers, Maureen; Zurynski, Yvonne; Singh-Grewal, Davinder

    2016-09-01

    Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS. Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology. Eighteen cases of CAPS were identified (8 NOMID; 8 MWS, 2 FCAS); 12 in children <18 years of age. The estimated population prevalence of CAPS was 1 per million persons. Diagnostic delay was frequent, particularly in those with milder phenotypes (median diagnostic delay in MWS/FCAS 20.6 years compared with NOMID 2.1 years; P = 0.04). Common presenting features included urticaria (100%), periodic fever (78%), arthralgia (72%) and sensorineural hearing loss (61%). Almost all (90%) MWS patients had a family member similarly affected compared with none in the NOMID group (P = 0.004). A significant proportion of patients on anti-interleukin (IL)-1 therapy (n = 13) no longer had systemic inflammation. Only 50% with sensorineural hearing loss had hearing restored on anti-IL-1 therapy. Although CAPS are rare, patients often endured prolonged periods of systemic inflammation. This is despite almost all MWS patients having family members with similar symptoms and children with NOMID presenting with chronic infantile urticaria associated with multi-system inflammation. Hearing loss in NOMID/MWS was frequent, and reversible in only 50% of cases. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  15. Combined use of clips and nylon snare ("tulip-bundle") as a rescue endoscopic bleeding control in a mallory-weiss syndrome.

    PubMed

    Ivekovic, Hrvoje; Radulovic, Bojana; Jankovic, Suzana; Markos, Pave; Rustemovic, Nadan

    2014-01-01

    Mallory-Weiss syndrome (MWS) accounts for 6-14% of all cases of upper gastrointestinal bleeding. Prognosis of patients with MWS is generally good, with a benign course and rare recurrence of bleeding. However, no strict recommendations exist in regard to the mode of action after a failure of primary endoscopic hemostasis. We report a case of an 83-year-old male with MWS and rebleeding after the initial endoscopic treatment with epinephrine and clips. The final endoscopic control of bleeding was achieved by a combined application of clips and a nylon snare in a "tulip-bundle" fashion. The patient had an uneventful postprocedural clinical course and was discharged from the hospital five days later. To the best of our knowledge, this is the first case report showing the "tulip-bundle" technique as a rescue endoscopic bleeding control in the esophagus.

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

    PubMed

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

    2008-12-01

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

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

    PubMed Central

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

    2008-01-01

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

  18. Cryopyrin-associated periodic syndrome.

    PubMed

    Giat, Eitan; Lidar, Merav

    2014-10-01

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

  19. Dlx1&2-Dependent Expression of Zfhx1b (Sip1, Zeb2) Regulates the Fate Switch Between Cortical and Striatal Interneurons

    PubMed Central

    McKinsey, Gabriel L.; Lindtner, Susan; Trzcinski, Brett; Visel, Axel; Pennacchio, Len A.; Huylebroeck, Danny; Higashi, Yujiro; Rubenstein, John L. R.

    2013-01-01

    Summary Mammalian pallial (cortical and hippocampal) and striatal interneurons are both generated in the embryonic subpallium, including the medial ganglionic eminence (MGE). Herein we demonstrate that the Zfhx1b (Sip1, Zeb2) zinc finger homeobox gene is required in the MGE, directly downstream of Dlx1&2, to generate cortical interneurons that express Cxcr7, MafB and cMaf. In its absence, Nkx2-1 expression is not repressed, and cells that ordinarily would become cortical interneurons appear to transform towards a subtype of GABAeric striatal interneurons. These results show that Zfhx1b is required to generate cortical interneurons, and suggest a mechanism for the epilepsy observed in humans with Zfhx1b mutations (Mowat-Wilson syndrome). PMID:23312518

  20. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes.

    PubMed

    Wittkowski, Helmut; Kuemmerle-Deschner, Jasmin B; Austermann, Judith; Holzinger, Dirk; Goldbach-Mansky, Raphaela; Gramlich, Katharina; Lohse, Peter; Jung, Thomas; Roth, Johannes; Benseler, Susanne M; Foell, Dirk

    2011-12-01

    To assess the sensitivity of the phagocyte-specific molecules myeloid-related protein (MRP) 8 and MRP14 (calprotectin) for monitoring disease activity during anti-interleukin (IL)-1 therapies in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular (CINCA) syndrome. A total of 39 patients with CAPS, including 5 FCAS, 16 MWS and 18 CINCA syndrome, received anti-IL-1 therapy. All patients with CINCA and 12 with MWS were treated with IL-1Ra (anakinra), 14 patients with MWS with a monoclonal anti-IL-1β antibody (canakinumab) and patients with FCAS received IL-1 Trap (rilonacept). During serial clinical visits serum amyloid A, C-reactive protein, erythrocyte sedimentation rate and MRP8/14 serum levels were analysed. Untreated patients with CAPS had significantly elevated MRP8/14 values. In response to treatment there was a significant reduction of MRP8/14 levels in CINCA (2,830 (range 690 - 8,480) ng/ml to 670 ng/ml, p < 0.001) and MWS patients (anakinra-treated: 4,390 (1790 - 9780) ng/ml to 1,315 ng/ml (p = 0.003); canakinumab-treated: 3,000 (500 - 13060) ng/ml to 630 ng/ml (p=0.001)). However, in many patients with CAPS, MRP8/14 levels were still elevated compared with healthy individuals, reflecting residual disease activity. However, canakinumab-treated patients with CAPS showed normalised MRP8/14 levels, suggesting control of phagocyte activation. Monitoring of cellular systems involved in inflammatory cascades of the innate immunity was successfully applied to the IL-1-driven CAPS diseases. This is the first study illustrating different states of subclinical disease activity in all types of CAPS depending on the type of anti-IL-1 therapy. MRP8/14 is a sensitive biomarker for monitoring disease activity, status of inflammation and response to IL-1 blockade in patients with CAPS.

  1. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes

    PubMed Central

    Austermann, Judith; Holzinger, Dirk; Goldbach-Mansky, Raphaela; Gramlich, Katharina; Lohse, Peter; Jung, Thomas; Roth, Johannes; Benseler, Susanne M; Foell, Dirk

    2014-01-01

    Objectives To assess the sensitivity of the phagocyte-specific molecules myeloid-related protein (MRP) 8 and MRP14 (calprotectin) for monitoring disease activity during anti-interleukin (IL)-1 therapies in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular (CINCA) syndrome. Methods A total of 39 patients with CAPS, including 5 FCAS, 16 MWS and 18 CINCA syndrome, received anti-IL-1 therapy. All patients with CINCA and 12 with MWS were treated with IL-1Ra (anakinra), 14 patients with MWS with a monoclonal anti-IL-1β antibody (canakinumab) and patients with FCAS received IL-1 Trap (rilonacept). During serial clinical visits serum amyloid A, C-reactive protein, erythrocyte sedimentation rate and MRP8/14 serum levels were analysed. Results Untreated patients with CAPS had significantly elevated MRP8/14 values. In response to treatment there was a significant reduction of MRP8/14 levels in CINCA (2,830 (range 690 – 8,480) ng/ml to 670 ng/ml, p < 0.001) and MWS patients (anakinra-treated: 4,390 (1790 – 9780) ng/ml to 1,315 ng/ml (p = 0.003); canakinumab-treated: 3,000 (500 – 13060) ng/ml to 630 ng/ml (p=0.001)). However, in many patients with CAPS, MRP8/14 levels were still elevated compared with healthy individuals, reflecting residual disease activity. However, canakinumab-treated patients with CAPS showed normalised MRP8/14 levels, suggesting control of phagocyte activation. Conclusions Monitoring of cellular systems involved in inflammatory cascades of the innate immunity was successfully applied to the IL-1-driven CAPS diseases. This is the first study illustrating different states of subclinical disease activity in all types of CAPS depending on the type of anti-IL-1 therapy. MRP8/14 is a sensitive biomarker for monitoring disease activity, status of inflammation and response to IL-1 blockade in

  2. Anakinra Use During Pregnancy in Patients with Cryopyrin-Associated Periodic Syndromes (CAPS)

    PubMed Central

    Chang, Zenas; Spong, Catherine; Jesus, Adriana A.; Davis, Michael; Plass, Nicole; Stone, Deborah L.; Chapelle, Dawn; Hoffmann, Patrycja; Kastner, Daniel L.; Barron, Karyl; Goldbach-Mansky, Raphaela T.; Stratton, Pamela

    2014-01-01

    Objective To describe the pregnancy course and outcome, and use of anakinra, a recombinant selective IL-1 receptor blocker, during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal onset multi-system inflammatory disease (NOMID). Methods Women currently enrolled in natural history protocols (NCT00059748, and/or NCT00069329 under IND) who have been pregnant were included. Subjects underwent a structured, standardized interview with regards to maternal health, pregnancy and fetal outcomes. Medical records were reviewed. Results Nine women (four with FCAS, one with MWS and four with NOMID) reported one to four pregnancies, each resulting in a total of fifteen FCAS, three MWS, and six NOMID pregnancies. Six births from FCAS mothers and three births from NOMID mothers occurred while patients were receiving anakinra. If a woman became pregnant while taking anakinra, the pre-pregnancy anakinra dose was continued. Anakinra dose was increased during one twin pregnancy. No preterm births or serious complications of pregnancy were observed. One fetus of the twin pregnancy had renal agenesis and suffered fetal demise. Genetic testing showed the deceased twin carried the same NLRP3 c.785T>C, p.V262A mutation as the mother. The other twin is healthy and mutation negative. Conclusions Anakinra was continued during pregnancy in women with CAPS and provided significant, persistent CAPS symptom relief while continuing to prevent the long-term sequelae of CAPS. Anakinra was well tolerated. Although a causal relation between anakinra and renal agenesis seems unlikely, further safety data are needed. PMID:25223501

  3. Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

    PubMed

    Chang, Zenas; Spong, Catherine Y; Jesus, Adriana A; Davis, Michael A; Plass, Nicole; Stone, Deborah L; Chapelle, Dawn; Hoffmann, Patrycja; Kastner, Daniel L; Barron, Karyl; Goldbach-Mansky, Raphaela T; Stratton, Pamela

    2014-11-01

    Objective: To describe the pregnancy course and outcome, and use of anakinra, a recombinant selective IL-1 receptor blocker, during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS), including familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal onset multi-system inflammatory disease (NOMID). Methods: Women currently enrolled in natural history protocols (NCT00059748, and/or NCT00069329 under IND) who have been pregnant were included. Subjects underwent a structured, standardized interview with regards to maternal health, pregnancy and fetal outcomes. Medical records were reviewed. Results: Nine women (four with FCAS, one with MWS and four with NOMID) reported one to four pregnancies, each resulting in a total of fifteen FCAS, three MWS, and six NOMID pregnancies. Six births from FCAS mothers and three births from NOMID mothers occurred while patients were receiving anakinra. If a woman became pregnant while taking anakinra, the pre-pregnancy anakinra dose was continued. Anakinra dose was increased during one twin pregnancy. No preterm births or serious complications of pregnancy were observed. One fetus of the twin pregnancy had renal agenesis and suffered fetal demise. Genetic testing showed the deceased twin carried the same NLRP3 c.785T>C, p.V262A mutation as the mother. The other twin is healthy and mutation negative. Conclusions: Anakinra was continued during pregnancy in women with CAPS and provided significant, persistent CAPS symptom relief while continuing to prevent the long-term sequelae of CAPS. Anakinra was well tolerated. Although a causal relation between anakinra and renal agenesis seems unlikely, further safety data are needed.

  4. NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

    PubMed

    Sobolewska, Bianka; Angermair, Eva; Deuter, Christoph; Doycheva, Deshka; Kuemmerle-Deschner, Jasmin; Zierhut, Manfred

    2016-06-01

    Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms. In a retrospective observational cohort study, consecutive family members were screened for the presence of the NLRP3 mutation. Patients underwent standardized clinical, laboratory, and ophthalmological assessments. The genotype-specific risk of ophthalmological findings and other organ symptoms was determined. Twenty-nine patients were clinically affected. The A439V mutation encoded by exon 3 of the NLRP3 gene was found in 15 of 37 family members (41%). The most common clinical features were musculoskeletal symptoms, headaches, and ophthalmological symptoms. The mutation-positive patients were characterized by more frequent skin rashes, ocular symptoms, arthralgia, arthritis, and severe Muckle-Wells syndrome (MWS) Disease Activity Score. Rosacea was diagnosed in 8 patients. The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. Skin rash and eye diseases, such as conjunctivitis and uveitis, were positively correlated with this mutation.

  5. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

    PubMed

    Nakagawa, Kenji; Gonzalez-Roca, Eva; Souto, Alejandro; Kawai, Toshinao; Umebayashi, Hiroaki; Campistol, Josep María; Cañellas, Jeronima; Takei, Syuji; Kobayashi, Norimoto; Callejas-Rubio, Jose Luis; Ortego-Centeno, Norberto; Ruiz-Ortiz, Estíbaliz; Rius, Fina; Anton, Jordi; Iglesias, Estibaliz; Jimenez-Treviño, Santiago; Vargas, Carmen; Fernandez-Martin, Julian; Calvo, Inmaculada; Hernández-Rodríguez, José; Mendez, María; Dordal, María Teresa; Basagaña, Maria; Bujan, Segundo; Yashiro, Masato; Kubota, Tetsuo; Koike, Ryuji; Akuta, Naoko; Shimoyama, Kumiko; Iwata, Naomi; Saito, Megumu K; Ohara, Osamu; Kambe, Naotomo; Yasumi, Takahiro; Izawa, Kazushi; Kawai, Tomoki; Heike, Toshio; Yagüe, Jordi; Nishikomori, Ryuta; Aróstegui, Juan I

    2015-03-01

    : Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations and included in the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic NLRP3 mosaicism has been detected in ≈35% of patients with CINCA. However, no data are currently available regarding the relevance of this mechanism in other CAPS phenotypes. To evaluate somatic NLRP3 mosaicism as the disease-causing mechanism in patients with clinical CAPS phenotypes other than CINCA and NLRP3 mutation-negative. NLRP3 analyses were performed by Sanger sequencing and by massively parallel sequencing. Apoptosis-associated Speck-like protein containing a CARD (ASC)-dependent nuclear factor kappa-light chain-enhancer of activated B cells (NF-κB) activation and transfection-induced THP-1 cell death assays determined the functional consequences of the detected variants. A variable degree (5.5-34.9%) of somatic NLRP3 mosaicism was detected in 12.5% of enrolled patients, all of them with a MWS phenotype. Six different missense variants, three novel (p.D303A, p.K355T and p.L411F), were identified. Bioinformatics and functional analyses confirmed that they were disease-causing, gain-of-function NLRP3 mutations. All patients treated with anti-interleukin1 drugs showed long-lasting positive responses. We herein show somatic NLRP3 mosaicism underlying MWS, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome. The data here described allowed definitive diagnoses of these patients, which had serious implications for gaining access to anti-interleukin 1 treatments under legal indication and for genetic counselling. The detection of somatic mosaicism is difficult when using conventional methods. Potential candidates should benefit from the use of modern genetic tools. Published by the

  6. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age

    PubMed Central

    2013-01-01

    Introduction Interleukin-1 (IL-1) blockade is the treatment of choice of cryopyrin associated periodic syndromes (CAPS). Anti-IL-1 monoclonal antibody (canakinumab) was recently registered. However no clear data are available on the optimal schedule of administration of this drug. The aim of the present study was to analyse the impact of canakinumab on CAPS patients in daily clinical practice and to identify the best schedule of administration according to age and phenotype. Methods 13 CAPS patients (10 children and 3 young adults) treated with canakinumab were followed for 12 months. Clinical and laboratory parameters were collected at each visit. Health-related quality of life (HRQoL) was recorded at month 12. Complete response was defined as absence of clinical manifestations and normal examinations. Clinical and laboratory variables at last follow-up were compared with those registered at the moment of anakinra discontinuation. Results seven patients with chronic infantile neurological cutaneous articular (CINCA) syndrome, four patients with Muckle-Wells syndrome (MWS) and two patients with an overlapping MWS/CINCA phenotype were analysed. CINCA patients experienced a higher number of modifications of the treatment (increased dosage or decreased dosing interval) in respect to MWS patients. At the end of the follow-up CINCA patients displayed a higher frequency of administration with a median dose of 3.7 mg/kg (2.1 mg/kg for MWS patients). Canakinumab was withdrawn in a patient with CINCA for incomplete response and poor compliance. The effect of canakinumab on HRQoL was similar to that observed during treatment with anakinra, with the exception of an improvement of the psychosocial concepts after the introduction of canakinumab. Conclusions The use of canakinumab in daily practice is associated with persistent satisfactory control of disease activity but needs progressive dose adjustments in more severe patients. The clinical phenotype, rather than the age

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

    PubMed Central

    Haug, Iris

    2013-01-01

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

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

    PubMed

    Koné-Paut, I

    2015-04-01

    Cryopyrin-associated periodic syndrome is a rare hereditary periodic fever syndrome for which, the genetic mechanism, mutation in the NLRP3 gene, has allowed to gather 3 clinical phenotypes (familial cold urticaria [FCAS], Muckle-Wells syndrome [MWS], and chronic infantile neurological cutaneous and articular syndrome [CINCA]) initially described independently, and to discover the NLRP3 inflammasome, a key receptor of the innate immunity, which regulates the interleukine-1β secretion into the mononuclear cells. The clinical manifestation of CAPS : urticaria-like skin rash, eyes redness, myalgia and sensory deafness are not specific, if considered separately, and that often leads to a wandering diagnosis through a complex medical journey including various specialists. The diagnostic delay is deleterious to patients compromising their quality of life and exposing them to neurosensory complications and renal failure by secondary amyloidosis. The paediatric onset of disease, the family history, the trigger of symptoms by the cold, and the recognition of the skin rash as neutrophilic are important clues before diagnostic confirmation by genetic testing. Interleukine-1 blockade is the only effective treatment of CAPS symptoms which often may stabilize (rarely regression) the sensory involvement and in some cases may allow the regression of secondary amyloidosis. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  9. [Genetics of cryopyrin-associated periodic syndrome].

    PubMed

    Kümmerle-Deschner, J B; Lohse, P

    2017-05-01

    Familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological, cutaneous and articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/NOMID) were originally described as three distinct diseases. After the identification of their common genetic origin in 2001 and 2002, they are now perceived as a continuum of one disease entity and labelled cryopyrin-associated periodic syndromes (CAPS). Mutations in the NLRP3 gene on chromosome 1q44 can be detected in many affected patients. These lead to the synthesis of an altered gene product named cryopyrin. This is part of the NLRP3 inflammasome and causes the activation of caspase 1 and an excess production of IL-1β, which is the driving force behind the inflammatory reactions observed in CAPS patients. In symptomatic patients, confirmation of a mutation using traditional methods of genetic analysis may not always be successful (up to 40% in the case of CINCA/NOMID phenotypes); however, in many cases somatic mutations can be found using modern methods, such as next generation sequencing (NGS) technologies. In contrast, low-penetrance NLRP3 variants may also be identified in healthy family members and are present in low frequencies in the general population. Some of the mutation carriers nevertheless present with typical signs of autoinflammation; however, their phenotype is different compared to the classical CAPS presentation. These patients display unspecific systemic inflammatory signs more frequently but show an organ involvement less often. While the detection of NLRP3 gene mutations may be viewed as confirmatory, CAPS is still predominantly a clinical diagnosis; therefore, recently published diagnostic criteria do not require the demonstration of a mutation.

  10. Emerging coral diseases in Kāne'ohe Bay, O'ahu, Hawai'i (USA): two major disease outbreaks of acute Montipora white syndrome

    USGS Publications Warehouse

    Aeby, Greta S.; Callahan, Sean; Cox, Evelyn F.; Runyon, Christina M.; Smith, Ashley; Stanton, Frank G.; Ushijima, Blake; Work, Thierry M.

    2016-01-01

    In March 2010 and January 2012, we documented 2 widespread and severe coral disease outbreaks on reefs throughout Kāne‘ohe Bay, Hawai‘i (USA). The disease, acute Montipora white syndrome (aMWS), manifested as acute and progressive tissue loss on the common reef coral M. capitata. Rapid visual surveys in 2010 revealed 338 aMWS-affected M. capitata colonies with a disease abundance of (mean ± SE) 0.02 ± 0.01 affected colonies per m of reef surveyed. In 2012, disease abundance was significantly higher (1232 aMWS-affected colonies) with 0.06 ± 0.02 affected colonies m-1. Prior surveys found few acute tissue loss lesions in M. capitata in Kāne‘ohe Bay; thus, the high number of infected colonies found during these outbreaks would classify this as an emerging disease. Disease abundance was highest in the semi-enclosed region of south Kāne‘ohe Bay, which has a history of nutrient and sediment impacts from terrestrial runoff and stream discharge. In 2010, tagged colonies showed an average tissue loss of 24% after 1 mo, and 92% of the colonies continued to lose tissue in the subsequent month but at a slower rate (chronic tissue loss). The host-specific nature of this disease (affecting only M. capitata) and the apparent spread of lesions between M. capitatacolonies in the field suggest a potential transmissible agent. The synchronous appearance of affected colonies on multiple reefs across Kāne‘ohe Bay suggests a common underlying factor. Both outbreaks occurred during the colder, rainy winter months, and thus it is likely that some parameter(s) associated with winter environmental conditions are linked to the emergence of disease outbreaks on these reefs.

  11. Emerging coral diseases in Kāne'ohe Bay, O'ahu, Hawai'i (USA): two major disease outbreaks of acute Montipora white syndrome.

    PubMed

    Aeby, Greta S; Callahan, Sean; Cox, Evelyn F; Runyon, Christina; Smith, Ashley; Stanton, Frank G; Ushijima, Blake; Work, Thierry M

    2016-05-26

    In March 2010 and January 2012, we documented 2 widespread and severe coral disease outbreaks on reefs throughout Kāne'ohe Bay, Hawai'i (USA). The disease, acute Montipora white syndrome (aMWS), manifested as acute and progressive tissue loss on the common reef coral M. capitata. Rapid visual surveys in 2010 revealed 338 aMWS-affected M. capitata colonies with a disease abundance of (mean ± SE) 0.02 ± 0.01 affected colonies per m of reef surveyed. In 2012, disease abundance was significantly higher (1232 aMWS-affected colonies) with 0.06 ± 0.02 affected colonies m(-1). Prior surveys found few acute tissue loss lesions in M. capitata in Ka¯ne'ohe Bay; thus, the high number of infected colonies found during these outbreaks would classify this as an emerging disease. Disease abundance was highest in the semi-enclosed region of south Kāne'ohe Bay, which has a history of nutrient and sediment impacts from terrestrial runoff and stream discharge. In 2010, tagged colonies showed an average tissue loss of 24% after 1 mo, and 92% of the colonies continued to lose tissue in the subsequent month but at a slower rate (chronic tissue loss). The host-specific nature of this disease (affecting only M. capitata) and the apparent spread of lesions between M. capitata colonies in the field suggest a potential transmissible agent. The synchronous appearance of affected colonies on multiple reefs across Kāne'ohe Bay suggests a common underlying factor. Both outbreaks occurred during the colder, rainy winter months, and thus it is likely that some parameter(s) associated with winter environmental conditions are linked to the emergence of disease outbreaks on these reefs.

  12. Duane Syndrome

    MedlinePlus

    ... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

  13. LEOPARD syndrome

    MedlinePlus

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  14. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  15. Fanconi syndrome

    MedlinePlus

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

  16. Guidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS).

    PubMed

    Terreri, Maria Teresa R A; Bernardo, Wanderley Marques; Len, Claudio Arnaldo; da Silva, Clovis Artur Almeida; de Magalhães, Cristina Medeiros Ribeiro; Sacchetti, Silvana B; Ferriani, Virgínia Paes Leme; Piotto, Daniela Gerent Petry; Cavalcanti, André de Souza; de Moraes, Ana Júlia Pantoja; Sztajnbok, Flavio Roberto; de Oliveira, Sheila Knupp Feitosa; Campos, Lucia Maria Arruda; Bandeira, Marcia; Santos, Flávia Patricia Sena Teixeira; Magalhães, Claudia Saad

    2016-01-01

    To establish guidelines based on cientific evidences for the management of cryopyrin associated periodic syndromes. The Guideline was prepared from 4 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. 1215 articles were retrieved and evaluated by title and abstract; from these, 42 articles were selected to support the recommendations. 1. The diagnosis of CAPS is based on clinical history and clinical manifestations, and later confirmed by genetic study. CAPS may manifest itself in three phenotypes: FCAS (mild form), MWS (intermediate form) and CINCA (severe form). Neurological, ophthalmic, otorhinolaryngological and radiological assessments may be highly valuable in distinguishing between syndromes; 2. The genetic diagnosis with NLRP3 gene analysis must be conducted in suspected cases of CAPS, i.e., individuals presenting before 20 years of age, recurrent episodes of inflammation expressed by a mild fever and urticaria; 3. Laboratory abnormalities include leukocytosis and elevated serum levels of inflammatory proteins; and 4. Targeted therapies directed against interleukin-1 lead to rapid remission of symptoms in most patients. However, there are important limitations on the long-term safety. None of the three anti-IL-1β inhibitors prevents progression of bone lesions. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

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

    PubMed

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

    2012-01-01

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

  18. Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.

    PubMed

    Helm, Benjamin M

    2015-04-01

    The main goal of the constructivist meaning-making framework is to encourage grief adaptation through the search for meaning in loss. Strategies to help patients construct meaning from their experiences may lead to positive adaptation. This strategy has been used in contemporary grief counseling, but it may also be beneficial in the genetic counseling scenario. The diagnosis of a rare genetic disorder often has considerable psychosocial impact as patients and families describe feelings of isolation and hopelessness. Negative experiences with healthcare providers often reinforce these feelings. Genetic counselors continue to provide education and psychosocial support to patients and families with rare genetic disorders, and meaning-making strategies may provide a framework for which to help patients and families adapt to these challenging diagnoses. In this paper I explore the background of meaning-making counseling strategy and describe an experience in which it was used for counseling a family with a child with Mowat-Wilson syndrome. I show how a meaning-making framework can help families explore and construct meaning from their experiences and encourage positive adaptation. I also address the possible limitations of this strategy and the need to share additional experiences with this counseling framework. Meaning-making can be another tool for genetic counselors to help guide families in their grief and adaptation to rare disease diagnoses. I also describe qualities and aspects of counseling through the lens of meaning-making and stress the importance of addressing psychosocial dimensions of rare disease diagnoses.

  19. Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination.

    PubMed

    Wu, Lai Man Natalie; Wang, Jincheng; Conidi, Andrea; Zhao, Chuntao; Wang, Haibo; Ford, Zachary; Zhang, Liguo; Zweier, Christiane; Ayee, Brian G; Maurel, Patrice; Zwijsen, An; Chan, Jonah R; Jankowski, Michael P; Huylebroeck, Danny; Lu, Q Richard

    2016-08-01

    The mechanisms that coordinate and balance a complex network of opposing regulators to control Schwann cell (SC) differentiation remain elusive. Here we demonstrate that zinc-finger E-box-binding homeobox 2 (Zeb2, also called Sip1) transcription factor is a critical intrinsic timer that controls the onset of SC differentiation by recruiting histone deacetylases HDAC 1 and 2 (HDAC1/2) and nucleosome remodeling and deacetylase complex (NuRD) co-repressor complexes in mice. Zeb2 deletion arrests SCs at an undifferentiated state during peripheral nerve development and inhibits remyelination after injury. Zeb2 antagonizes inhibitory effectors including Notch and Sox2. Importantly, genome-wide transcriptome analysis reveals a Zeb2 target gene encoding the Notch effector Hey2 as a potent inhibitor for Schwann cell differentiation. Strikingly, a genetic Zeb2 variant associated with Mowat-Wilson syndrome disrupts the interaction with HDAC1/2-NuRD and abolishes Zeb2 activity for SC differentiation. Therefore, Zeb2 controls SC maturation by recruiting HDAC1/2-NuRD complexes and inhibiting a Notch-Hey2 signaling axis, pointing to the critical role of HDAC1/2-NuRD activity in peripheral neuropathies caused by ZEB2 mutations.

  20. Aarskog syndrome

    MedlinePlus

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  1. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  2. Malabsorption Syndromes

    MedlinePlus

    ... foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. ...

  3. Williams syndrome

    MedlinePlus

    ... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge Chromosomes and DNA References Morris CA. Williams syndrome. ...

  4. Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.

    PubMed

    Yadlapati, Sujani; Efthimiou, Petros

    2016-01-01

    Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID. CAPS is caused by a mutation in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene. This ultimately leads to increased production of interleukin (IL)-1β. IL-1β is a biologically active member of the IL-1 family. It is not only a pro-inflammatory cytokine responsible for features such as fever, rash, and arthritis, but is also a major mediator in the central pathways of fatigue. Fatigue is a major component of CAPS and is associated with severely compromised quality of life. In clinical studies, fatigue was measured using functional assessment of chronic illness therapy-fatigue or FACIT-F and short form-36 or SF-36, physical component score instruments. These questionnaires can also be used to monitor improvement of fatigue following initiation of therapy. IL-1 inhibitors block the IL-1 signaling cascade, thereby preventing systemic inflammation in CAPS. The decrease in systemic inflammation is accompanied by improvement in fatigue.

  5. Distinctive aspects of peptic ulcer disease, Dieulafoy's lesion, and Mallory-Weiss syndrome in patients with advanced alcoholic liver disease or cirrhosis

    PubMed Central

    Nojkov, Borko; Cappell, Mitchell S

    2016-01-01

    AIM: To systematically review the data on distinctive aspects of peptic ulcer disease (PUD), Dieulafoy’s lesion (DL), and Mallory-Weiss syndrome (MWS) in patients with advanced alcoholic liver disease (aALD), including alcoholic hepatitis or alcoholic cirrhosis. METHODS: Computerized literature search performed via PubMed using the following medical subject heading terms and keywords: “alcoholic liver disease”, “alcoholic hepatitis”,“ alcoholic cirrhosis”, “cirrhosis”, “liver disease”, “upper gastrointestinal bleeding”, “non-variceal upper gastrointestinal bleeding”, “PUD”, ‘‘DL’’, ‘‘Mallory-Weiss tear”, and “MWS’’. RESULTS: While the majority of acute gastrointestinal (GI) bleeding with aALD is related to portal hypertension, about 30%-40% of acute GI bleeding in patients with aALD is unrelated to portal hypertension. Such bleeding constitutes an important complication of aALD because of its frequency, severity, and associated mortality. Patients with cirrhosis have a markedly increased risk of PUD, which further increases with the progression of cirrhosis. Patients with cirrhosis or aALD and peptic ulcer bleeding (PUB) have worse clinical outcomes than other patients with PUB, including uncontrolled bleeding, rebleeding, and mortality. Alcohol consumption, nonsteroidal anti-inflammatory drug use, and portal hypertension may have a pathogenic role in the development of PUD in patients with aALD. Limited data suggest that Helicobacter pylori does not play a significant role in the pathogenesis of PUD in most cirrhotic patients. The frequency of bleeding from DL appears to be increased in patients with aALD. DL may be associated with an especially high mortality in these patients. MWS is strongly associated with heavy alcohol consumption from binge drinking or chronic alcoholism, and is associated with aALD. Patients with aALD have more severe MWS bleeding and are more likely to rebleed when compared to non

  6. Hearing improvement in a patient with variant Muckle‐Wells syndrome in response to interleukin 1 receptor antagonism

    PubMed Central

    Rynne, M; Maclean, C; Bybee, A; McDermott, M F; Emery, P

    2006-01-01

    Background Muckle‐Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused by mutations affecting the CIAS1/NALP3 gene on chromosome 1q44. The proinflammatory cytokine, interleukin 1β, is believed to have a fundamental role in their pathogenesis. Case report The case is described of a 59 year old white woman who presented with increasingly severe MWS‐type features over a 15 year period. The response to interleukin 1β inhibition with anakinra was dramatic, including a reduction in intracranial pressure with associated auditory improvement, as demonstrated by serial audiometry. Conclusions The confirmed improvement in hearing after initiation of interleukin 1 receptor antagonism corroborates previous reports that specific blockade of this single cytokine reverses most of the symptoms of this group of CIAS1/NALP3 related autoinflammatory conditions, including the sensorineural deafness, which has not been previously reported. PMID:16531551

  7. Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience.

    PubMed

    Russo, Ricardo A G; Melo-Gomes, Sonia; Lachmann, Helen J; Wynne, Karen; Rajput, Kaukab; Eleftheriou, Despina; Edelsten, Clive; Hawkins, Philip N; Brogan, Paul A

    2014-04-01

    The aim of this study was to determine the short- and long-term efficacy and safety of 8-weekly canakinumab therapy in children with cryopyrin-associated periodic syndromes (CAPS) in routine clinical practice. A single-centre observational study was performed. Patients were assessed every 8 weeks at a dedicated clinic. Standardized assessments were the 10-domains DAS for CAPS, acute phase reactants (APRs), physician's global assessment of disease activity, Child Health Assessment Questionnaire (CHAQ) and Child Health Questionnaire Parent Form 28 (CHQPF-28). The primary endpoint was clinical improvement, defined as a reduction of DAS score 8 weeks after commencing therapy. Secondary endpoints included sustained clinical improvement in APRs, relapses, CHAQ score and CHQPF-28 score. Ten children with CAPS [eight Muckle-Wells syndrome (MWS), two chronic infantile cutaneous neurological articular (CINCA); median age 6.3 years] received 8-weekly canakinumab treatments at 2-8.7 mg/kg for a median of 21 months (range 12-31 months). Nine of 10 patients improved after the first dose: baseline median DAS of 7.5/20 decreased to 3.5/20 at 8 weeks (P = 0.04). This clinical improvement was sustained at a median follow-up of 21 months (range 12-31 months). Children with CINCA required higher doses of canakinumab than those with MWS. CHAQ and CHQ scores indicated improvement in functioning and health-related quality of life (HRQoL). Treatment was well tolerated, with no injection site reactions and no serious infections. Canakinumab, although costly, is a safe and effective treatment for CAPS in children, leading to sustained improvement in disease activity, serological markers, functional ability and HRQoL.

  8. Kindler syndrome.

    PubMed

    Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  9. Kindler syndrome.

    PubMed

    Lai-Cheong, Joey E; McGrath, John A

    2010-01-01

    Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

  10. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry.

    PubMed

    Tilson, Hugh; Primatesta, Paola; Kim, Dennis; Rauer, Barbara; Hawkins, Philip N; Hoffman, Hal M; Kuemmerle-Deschner, Jasmin; van der Poll, Tom; Walker, Ulrich A

    2013-09-10

    The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during the licensing process. Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring. A web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS. Starting in November 2009, this registry enrolled 241 patients in 43 centers and 13 countries by December 31, 2012. One-third of the enrolled population was aged < 18; the overall population is evenly divided by gender. Enrolment is ongoing for children. Innovative therapies in orphan diseases require post-approval structures to enable in depth understanding of safety and natural history of disease. The rarity and distribution of such diseases and unpredictability of treatment require innovative methods for enrolment and follow-up. Broad international practice-based recruitment and web-based data collection are practical.

  11. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry

    PubMed Central

    2013-01-01

    Background The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during the licensing process. Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring. Methods A web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS. Results Starting in November 2009, this registry enrolled 241 patients in 43 centers and 13 countries by December 31, 2012. One-third of the enrolled population was aged < 18; the overall population is evenly divided by gender. Enrolment is ongoing for children. Conclusions Innovative therapies in orphan diseases require post-approval structures to enable in depth understanding of safety and natural history of disease. The rarity and distribution of such diseases and unpredictability of treatment require innovative methods for enrolment and follow-up. Broad international practice-based recruitment and web-based data collection are practical. PMID:24016338

  12. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  13. Cushing's Syndrome

    MedlinePlus

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

  14. Usher Syndrome

    MedlinePlus

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

  15. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  16. Reye Syndrome

    MedlinePlus

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  17. Myelodysplastic Syndromes

    MedlinePlus

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

  18. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  19. Felty syndrome

    MedlinePlus

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  20. Myelodysplastic Syndromes

    MedlinePlus

    ... such as tobacco, benzene and pesticides, or to heavy metals, such as lead. Types of myelodysplastic syndromes The ... and industrial chemicals, such as benzene. Exposure to heavy metals. Heavy metals linked to myelodysplastic syndromes include lead ...

  1. Angelman Syndrome

    MedlinePlus

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ...

  2. Zellweger Syndrome

    MedlinePlus

    ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  3. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  4. Down Syndrome

    MedlinePlus

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  5. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  6. Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients.

    PubMed

    Yokota, Shumpei; Imagawa, Tomoyuki; Nishikomori, Ryuta; Takada, Hidetoshi; Abrams, Ken; Lheritier, Karine; Heike, Toshio; Hara, Toshiro

    2017-01-01

    To assess the long-term safety and efficacy of canakinumab in Japanese patients with cryopyrin-associated periodic syndrome (CAPS). In this open-label phase 3 study, Japanese patients aged ≥2 years with CAPS received canakinumab 2-8 mg/kg subcutaneously every 8 weeks. The duration of the core treatment phase was 24 weeks followed by 22 months extension phase. The primary objective was the proportion of patients free of clinical and serologic relapse at week 24. The study enrolled 19 Japanese patients (median age, 14 years; range, 2-48 years) with CAPS [MWS, 7 (36.8%); NOMID, 12 (63.2%)] for a median of 109 weeks. Fifteen patients (79%) achieved a complete response by day 15, 18 (94.7%) by week 24 and all by week 48. At the end of the study, 18 (95%) were free from relapse and 11 (57.9%) were assessed as having no disease activity by the PGA. Thirteen (68%) patients (MWS, 4; NOMID, 9) had their canakinumab dose increased during the trial. All patients experienced at least one adverse event (AE), the most common being infections (100%) and 5 (26.3%) reported serious AEs. No deaths were reported and the only patient who discontinued the study early withdrew consent. Regular canakinumab treatment every 8 weeks at dose levels from 2-8 mg/kg, based on the clinical need, represents a successful strategy to induce rapid and complete response while maintain long-term disease control in Japanese patients with CAPS. The safety profile of canakinumab was consistent with that observed from previous studies.

  7. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  8. Gorlin syndrome.

    PubMed

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

    2013-05-01

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

  9. Proteus syndrome*

    PubMed Central

    Rocha, Ritha de Cássia Capelato; Estrella, Mariani Paulino Soriano; do Amaral, Danielle Mechereffe; Barbosa, Angela Marques; de Abreu, Marilda Aparecida Milanez Morgado

    2017-01-01

    Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations. PMID:29166516

  10. Goodpasture syndrome

    MedlinePlus

    ... pulmonary hemorrhage; Pulmonary renal syndrome; Glomerulonephritis - pulmonary hemorrhage Images Kidney blood supply References Appel GB, Radhakrishnan J, D'Agati V. Secondary glomerular disease. In: Skorecki ...

  11. Marfan Syndrome (For Teens)

    MedlinePlus

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  12. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  13. Tourette Syndrome

    MedlinePlus

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

  14. Postthrombotic Syndrome

    MedlinePlus

    ... Rondina MT. Contemporary issues in the prevention and management of postthrombotic syndrome. Ann Pharmacother . 2009 ; 43 : 1824 –1835. OpenUrl CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. ...

  15. Aicardi Syndrome

    MedlinePlus

    ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org http://www.aicardisyndrome. ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org ...

  16. Sjogren's Syndrome

    MedlinePlus

    ... symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes. Your eyes might burn, itch or feel gritty — ... mouth is dry. Yeast infections. People with Sjogren's syndrome are much ... Vision problems. Dry eyes can lead to light sensitivity, blurred vision and ...

  17. [Cotard syndrome].

    PubMed

    Simovici, G; Bauer, A

    1996-01-01

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

  18. Poland syndrome

    PubMed Central

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

    2014-01-01

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

  19. Poland syndrome.

    PubMed

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

    2014-01-01

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

  20. Horner Syndrome

    MedlinePlus

    ... at birth Tumor of the hormonal and nervous systems (neuroblastoma) Unknown causes In some cases the cause of Horner syndrome cannot be identified. This is known as idiopathic Horner syndrome. By Mayo Clinic Staff . Mayo Clinic Footer Legal Conditions and Terms Any use of this site ...

  1. Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    1991-01-01

    The many prostatitis syndromes remain a frustrating enigma to family physicians as well as specialists. An understanding of the etiology and pathophysiology of these syndromes and a rigorous diagnostic plan to properly classify the patients at first presentation are essential to a successful treatment outcome. ImagesFigure 1 PMID:21229071

  2. Brugada Syndrome

    MedlinePlus

    ... A telltale abnormality — called a type 1 Brugada ECG pattern — is detected by an electrocardiogram (ECG) test. Brugada syndrome is much more common in ... syndrome is an abnormal pattern on an electrocardiogram (ECG) called a type 1 Brugada ECG pattern. You ...

  3. TAFRO Syndrome.

    PubMed

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Developing Renewable Energy Projects Larger Than 10 MWs at Federal Facilities

    SciTech Connect

    None

    2013-03-01

    To accomplish Federal goals for renewable energy, sustainability, and energy security, large-scale renewable energy projects must be developed and constructed on Federal sites at a significant scale with significant private investment. For the purposes of this Guide, large-scale Federal renewable energy projects are defined as renewable energy facilities larger than 10 megawatts (MW) that are sited on Federal property and lands and typically financed and owned by third parties.1 The U.S. Department of Energy’s Federal Energy Management Program (FEMP) helps Federal agencies meet these goals and assists agency personnel navigate the complexities of developing such projects and attract the necessarymore » private capital to complete them. This Guide is intended to provide a general resource that will begin to develop the Federal employee’s awareness and understanding of the project developer’s operating environment and the private sector’s awareness and understanding of the Federal environment. Because the vast majority of the investment that is required to meet the goals for large-scale renewable energy projects will come from the private sector, this Guide has been organized to match Federal processes with typical phases of commercial project development. FEMP collaborated with the National Renewable Energy Laboratory (NREL) and professional project developers on this Guide to ensure that Federal projects have key elements recognizable to private sector developers and investors. The main purpose of this Guide is to provide a project development framework to allow the Federal Government, private developers, and investors to work in a coordinated fashion on large-scale renewable energy projects. The framework includes key elements that describe a successful, financially attractive large-scale renewable energy project. This framework begins the translation between the Federal and private sector operating environments. When viewing the overall« less

  5. Developing Renewable Energy Projects Larger Than 10 MWs at Federal Facilities (Book)

    SciTech Connect

    Not Available

    2013-03-01

    To accomplish Federal goals for renewable energy, sustainability, and energy security, large-scale renewable energy projects must be developed and constructed on Federal sites at a significant scale with significant private investment. The U.S. Department of Energy's Federal Energy Management Program (FEMP) helps Federal agencies meet these goals and assists agency personnel navigate the complexities of developing such projects and attract the necessary private capital to complete them. This guide is intended to provide a general resource that will begin to develop the Federal employee's awareness and understanding of the project developer's operating environment and the private sector's awareness and understandingmore » of the Federal environment. Because the vast majority of the investment that is required to meet the goals for large-scale renewable energy projects will come from the private sector, this guide has been organized to match Federal processes with typical phases of commercial project development. The main purpose of this guide is to provide a project development framework to allow the Federal Government, private developers, and investors to work in a coordinated fashion on large-scale renewable energy projects. The framework includes key elements that describe a successful, financially attractive large-scale renewable energy project.« less

  6. Cushing's Syndrome

    MedlinePlus

    ... become irregular or stop. Men may have decreased fertility with lowered interest in sex and may have ... but don’t develop the long-term health effects of Cushing's syndrome. These people may have pseudo- ...

  7. Behcet's Syndrome

    MedlinePlus

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

  8. Carcinoid syndrome

    MedlinePlus

    ... things such as blue cheese, chocolate, or red wine. Exams and Tests Most of these tumors are ... outlook is more favorable thanks to new treatment methods. Possible Complications Complications of carcinoid syndrome may include: ...

  9. Lynch Syndrome

    MedlinePlus

    ... child is a son or daughter. How gene mutations cause cancer The genes affected in Lynch syndrome ... children have a risk of inheriting your genetic mutations. If one parent carries a genetic mutation for ...

  10. Noonan syndrome

    MedlinePlus

    ... ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... Problems with the structure of the heart Short height Social problems due to physical symptoms

  11. Metabolic Syndrome

    MedlinePlus

    ... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

  12. Tourette Syndrome

    MedlinePlus

    ... like he's in pain or needs help. These tics are symptoms of Luke's Tourette syndrome. What Is ... the body's brain and nervous system by causing tics — sudden, repetitive movements or sounds that some people ...

  13. Hurler Syndrome

    MedlinePlus

    ... del paciente Transplant process Diseases treated by transplant Acute myeloid leukemia Adrenoleukodystrophy (ALD) Chronic Lymphocytic Leukemia (CLL) ... SCID) Sickle cell disease (SCD) Wiskott-Aldrich syndrome Acute lymphoblastic leukemia (ALL) Other diseases Treatment decisions Learn ...

  14. Tourette Syndrome

    MedlinePlus

    ... trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. Information from the National Library of Medicine’s MedlinePlus Tourette Syndrome × What research is ...

  15. Apert syndrome

    MedlinePlus

    ... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... midface Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

  16. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  17. Stickler Syndrome

    MedlinePlus

    ... Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped ... develop ear infections than are children with normal facial features. Deafness. Hearing loss may worsen with time and ...

  18. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? In the more severely affected cases of Brown ... acquired and congenital cases. In congenital cases, the eye movement problem is usually constant and unlikely to resolve ...

  19. Turner Syndrome

    MedlinePlus

    ... increased risk of developing weak, brittle bones (osteoporosis). Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, ...

  20. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  1. Alagille Syndrome

    MedlinePlus

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  2. Reye Syndrome

    MedlinePlus

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  3. Tourette syndrome

    MedlinePlus

    ... had many motor tics and 1 or more vocal tics, although these tics may not have occurred ... symptoms of Tourette syndrome. A type of talk therapy (coginitive behavioral therapy) called habit-reversal may help ...

  4. HELLP syndrome

    MedlinePlus

    ... It is considered to be a variant of preeclampsia. Sometimes the presence of HELLP syndrome is due ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10% to ...

  5. Waardenburg syndrome.

    PubMed

    Tagra, Sunita; Talwar, Amrita Kaur; Walia, Rattan Lal Singh; Sidhu, Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  6. Noonan syndrome

    PubMed Central

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

    2014-01-01

    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

  7. [Poland's syndrome].

    PubMed

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  8. Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.

    PubMed

    Manthey, Abby L; Lachke, Salil A; FitzGerald, Paul G; Mason, Robert W; Scheiblin, David A; McDonald, John H; Duncan, Melinda K

    2014-02-01

    SIP1 encodes a DNA-binding transcription factor that regulates multiple developmental processes, as highlighted by the pleiotropic defects observed in Mowat-Wilson syndrome, which results from mutations in this gene. Further, in adults, dysregulated SIP1 expression has been implicated in both cancer and fibrotic diseases, where it functionally links TGFβ signaling to the loss of epithelial cell characteristics and gene expression. In the ocular lens, an epithelial tissue important for vision, Sip1 is co-expressed with epithelial markers, such as E-cadherin, and is required for the complete separation of the lens vesicle from the head ectoderm during early ocular morphogenesis. However, the function of Sip1 after early lens morphogenesis is still unknown. Here, we conditionally deleted Sip1 from the developing mouse lens shortly after lens vesicle closure, leading to defects in coordinated fiber cell tip migration, defective suture formation, and cataract. Interestingly, RNA-Sequencing analysis on Sip1 knockout lenses identified 190 differentially expressed genes, all of which are distinct from previously described Sip1 target genes. Furthermore, 34% of the genes with increased expression in the Sip1 knockout lenses are normally downregulated as the lens transitions from the lens vesicle to early lens, while 49% of the genes with decreased expression in the Sip1 knockout lenses are normally upregulated during early lens development. Overall, these data imply that Sip1 plays a major role in reprogramming the lens vesicle away from a surface ectoderm cell fate towards that necessary for the development of a transparent lens and demonstrate that Sip1 regulates distinctly different sets of genes in different cellular contexts. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  9. Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development

    PubMed Central

    Manthey, Abby L.; Lachke, Salil A.; FitzGerald, Paul G.; Mason, Robert W.; Scheiblin, David A.; McDonald, John H.; Duncan, Melinda K.

    2014-01-01

    SIP1 encodes a DNA-binding transcription factor that regulates multiple developmental processes, as highlighted by the pleiotropic defects observed in Mowat-Wilson Syndrome, which results from mutations in this gene. Further, in adults, dysregulated SIP1 expression has been implicated in both cancer and fibrotic diseases, where it functionally links TGFβ signaling to the loss of epithelial cell characteristics and gene expression. In the ocular lens, an epithelial tissue important for vision, Sip1 is co-expressed with epithelial markers, such as E-cadherin, and is required for the complete separation of the lens vesicle from the head ectoderm during early ocular morphogenesis. However, the function of Sip1 after early lens morphogenesis is still unknown. Here, we conditionally deleted Sip1 from the developing mouse lens shortly after lens vesicle closure, leading to defects in coordinated fiber cell tip migration, defective suture formation, and cataract. Interestingly, RNA-Sequencing analysis on Sip1 knockout lenses identified 190 differentially expressed genes, all of which are distinct from previously described Sip1 target genes. Furthermore, 34% of the genes with increased expression in the Sip1 knockout lenses are normally downregulated as the lens transitions from the lens vesicle to early lens, while 49% of the genes with decreased expression in the Sip1 knockout lenses are normally upregulated during early lens development. Overall, these data imply that Sip1 plays a major role in reprogramming the lens vesicle away from a surface ectoderm cell fate towards that necessary for the development of a transparent lens and demonstrate that Sip1 regulates distinctly different sets of genes in different cellular contexts. PMID:24161570

  10. Learning about WAGR Syndrome

    MedlinePlus

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

  11. Exogenous Cushing syndrome

    MedlinePlus

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  12. Turner Syndrome: Other FAQs

    MedlinePlus

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  13. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Home / < Back To Health Topics / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  14. Loeys-Dietz Syndrome

    MedlinePlus

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  15. National Down Syndrome Society

    MedlinePlus

    ... individuals with Down syndrome. Help us fix the law and end #LawSyndrome. Law Syndrome affects 100% of people with Down syndrome. It’s a series of antiquated laws that impede the pursuit of a career or ...

  16. Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics.

    PubMed

    Lainka, E; Neudorf, U; Lohse, P; Timmann, C; Bielak, M; Stojanov, S; Huss, K; von Kries, R; Niehues, T

    2010-11-01

    Cryopyrin-associated periodic syndromes (CAPS) are rare disorders belonging to the group of hereditary periodic fever (HPF)syndromes. These auto-inflammatory diseases(AID) are characterized by recurrent episodes of inflammation with attacks of fever variably associated with serosal, synovial and / or cutaneous inflammation, usually in a self-limiting manner, and with a mostly monogenic origin. The aims were to determine the incidence of CAPS and the spectrum of mutations in the NLRP3 (formerly= CIAS1) gene and to describe the clinical manifestations. A prospective surveillance of children with CAPS was conducted in Germany during a time period of 3 years(2003-2006). Monthly inquiries were sent to 370 children's hospitals by the German Paediatric Surveillance Unit (Clinic-ESPED, n1) and to 2 laboratories (Laboratory-ESPED, n2). Inclusion criteria were children ≤ 16 years of age, disease-associated NLRP3 mutation, more than 3 self-limiting episodes of fever > 38.5 ° C, and increased inflammation markers. Clinical, epidemiological and genetic data were evaluated via questionnaires. 6 out of 14 patients were identified in Clinic-ESPED (n1) and 13 / 14 in Laboratory-ESPED(n2). Clinical and laboratory surveys overlapped in 5 of 14 cases. The incidence of CAPS in German children was estimated to be 3.43 per 10⁷ person-years. The patients carried 11 different NLRP3 mutations and were classified as MWS(n = 6), CINCA (n = 4), FCAS (n = 1) and undefined CAPS (n = 3). The incidence of CAPS in Germany is very low and corresponds to 2-7 newly diagnosed patients ≤ 16 years per year. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  18. What Is Antiphospholipid Antibody Syndrome?

    MedlinePlus

    ... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

  19. Kindler syndrome.

    PubMed

    Sharma, Ramesh Chander; Mahajan, Vikram; Sharma, Nand Lal; Sharma, Ashok K

    2003-09-01

    Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.

  20. Noonan syndrome.

    PubMed

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

  1. Compartment syndromes

    NASA Technical Reports Server (NTRS)

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

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  2. Refeeding syndrome

    PubMed Central

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death. PMID:19742256

  3. Eagle's Syndrome

    PubMed Central

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  4. Postpolio syndrome.

    PubMed

    Winters, R

    1991-01-01

    The recurrence of symptoms many years after the rehabilitation of individuals who survived the acute illness, poliomyelitis, is a major concern. The purpose of this article is to provide information to the nurse practitioner (NP), who, as a primary health care provider, may be the first health professional to encounter persons with such complaints. Although no cure has been identified, diagnosis and treatment is available and is important to the psychosocial well-being of those who suffer from postpolio syndrome. This article reviews research on the syndrome including etiology, pathophysiology, symptoms and management, psychological issues, and the role of the aging process. Some areas where further research is indicated are also identified.

  5. Rett syndrome

    PubMed Central

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2005-01-01

    Rett syndrome is a rare, progressive, neurodevelopmental disorder that has been reported only in the girl child. We describe the case of a 6.9-year-old girl with Rett syndrome. She had normal development till the age of 2 years. However, over the next 4–5 months, she lost her acquired, purposeful hand skills; expressive and receptive language; and reciprocal social interaction; and gradually developed a broad-based gait and typical midline stereotyped hand movements (mouthing, rubbing). PMID:20711295

  6. [Elsberg syndrome].

    PubMed

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  7. Reiter's Syndrome.

    PubMed

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  8. [Waardenburg's syndrome].

    PubMed

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  9. Kindler syndrome.

    PubMed

    Ashton, G H S

    2004-03-01

    Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss-of-function mutations in a novel gene, KIND1, encoding kindlin-1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin-1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin-1, in cell-matrix adhesion and its intriguing link to photosensitivity.

  10. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

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

  11. Pendred Syndrome

    MedlinePlus

    ... weigh the medical, emotional, and ethical considerations of testing. A genetic counselor is a health professional who provides information and support to people (and their families) who have a genetic disorder or who are at risk for a genetic disorder. How is Pendred syndrome ...

  12. Rett Syndrome

    MedlinePlus

    ... with movement and coordination, and a loss of social interaction and communication. Stage III: plateau. The third stage usually begins between the ages of 2 and 10 years and can last for many years. ... social functioning Shortened life span — people with Rett syndrome ...

  13. Turner Syndrome

    MedlinePlus

    ... skin. What health problems can occur with Turner syndrome? Girls and women with TS are at risk for congenital (present at birth) abnormalities of the heart and kidneys, high blood pressure, chronic or repeated middle ear infections, hearing loss, diabetes, underactive thyroid gland, bowel ...

  14. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

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

  15. Pendred syndrome.

    PubMed

    Wémeau, Jean-Louis; Kopp, Peter

    2017-03-01

    Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

  16. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

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

  17. Irritable Bowel Syndrome

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Irritable Bowel Syndrome KidsHealth / For Teens / Irritable Bowel Syndrome What's in ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common intestinal ...

  18. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

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

  19. Pearson syndrome.

    PubMed

    Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo

    2018-03-01

    Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

  20. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy;more » 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.« less

  1. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  2. [Usher syndrome].

    PubMed

    Preda, Mirela; Damian, Carmen; Irimia, Anca; Sollosy, Mihaela; Ciuca, Cristi Adelina; Totolin, Mariana

    2008-01-01

    We present the case report of two brothers, PF-21 years old and PN-19 years old, to whom the fundus examination, perimetry and dark adaptation established the diagnosis of Retinitis Pigmentosa. The otorhinolaryngology exam and the audiogram revealed, in both cases, bilateral sensorineural deafness. The simultaneous presence of these two conditions completes the clinical findings of Usher syndrome. The common ectodermic origin of the retina and the inner ear could explain this pathological association.

  3. [Crush syndrome].

    PubMed

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

    2007-08-01

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

  4. Gorlin Syndrome.

    PubMed

    Palacios-Álvarez, I; González-Sarmiento, R; Fernández-López, E

    2018-04-01

    Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. [PHACES syndrome].

    PubMed

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  6. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

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

  7. Learning about Down Syndrome

    MedlinePlus

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

  8. Toxic shock syndrome

    MedlinePlus

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  9. Reye syndrome - resources

    MedlinePlus

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

  10. Facts about Down Syndrome

    MedlinePlus

    ... Down syndrome is a condition in which a person has an extra chromosome. What is Down Syndrome? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” ...

  11. What Is Usher Syndrome?

    MedlinePlus

    ... and usually appears during adolescence or early adulthood. Balance may also be affected in people with Usher syndrome. Symptoms and disease progression vary from person to person. There are three general categories of Usher syndrome. People with Usher syndrome ...

  12. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  13. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also be ... a skin or wound infection. Causes Most commonly, Staphylococcus aureus (staph) bacteria cause toxic shock syndrome. The syndrome ...

  14. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... my area? Other Names for This Condition Alagille-Watson Syndrome Alagille's syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome ... hypoplasia hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts Watson-Miller syndrome Related Information How are genetic conditions ...

  15. Acute nephritic syndrome

    MedlinePlus

    ... Names Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute Images Kidney anatomy References Appel GB, Radhakrishnan J. Glomerular disorders and nephrotic syndromes. In: Goldman L, ...

  16. Morvan Syndrome

    PubMed Central

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

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  17. Refeeding syndrome.

    PubMed

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  18. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  19. Elsberg syndrome

    PubMed Central

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  20. Metabolic Syndrome.

    PubMed

    Sherling, Dawn Harris; Perumareddi, Parvathi; Hennekens, Charles H

    2017-07-01

    The United States is experiencing its greatest life expectancy ever. Nonetheless, the general health of the US population is far from at an all-time high. An important contributor to the pandemic of cardiovascular disease is that overweight and obesity are also the major determinants of metabolic syndrome, an all too common and all too serious clinical and public health challenge. Clinicians have traditionally evaluated each of the major risk factors contributing to metabolic syndrome on an individual basis. There is evidence, however, that the risk factors are more than additive. The overlap of these factors in each disease state, resulting in increased atherogenic risks, is worth examining as a broader entity rather than separately. While therapeutic lifestyle changes (TLCs) should be strongly recommended, clinicians should not let the perfect be the enemy of the possible. Evidence-based doses of statins, aspirin and angiotensin-converting enzyme inhibitors, or angiotensin II receptor blockers should be prescribed as adjuncts, not alternatives, to TLCs. In fact, there is cogent evidence that the benefits of these pharmacologic therapies may also be at least additive.

  1. [Schnitzler's syndrome].

    PubMed

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

    2013-04-01

    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. Copyright © 2013. Published by Elsevier SAS.

  2. Cotard Syndrome.

    PubMed

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  3. Turner Syndrome (For Teens)

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  4. Ehlers-Danlos Syndrome

    MedlinePlus

    ... Danlos syndrome care at Mayo Clinic Symptoms Classic Ehlers-Danlos syndrome Signs and symptoms of the most common form ... but few or none of the skin symptoms. Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, ...

  5. Understanding Bartter syndrome and Gitelman syndrome.

    PubMed

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  6. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

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

  7. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. Gorlin's syndrome.

    PubMed

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  9. Gorlin-goltz syndrome.

    PubMed

    Pandeshwar, Padma; Jayanthi, K; Mahesh, D

    2012-01-01

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

  10. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  11. The metabolic syndrome in polycystic ovary syndrome.

    PubMed

    Essah, P A; Nestler, J E

    2006-03-01

    Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

  12. Hepatorenal syndrome.

    PubMed

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  13. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. © 2011 The Author. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  14. [Pseudoexfoliation syndrome].

    PubMed

    Esmail, F

    1991-05-01

    The Frequency of the Pseudoexfoliation-Syndrom (= PES) was investigated about two months in a prospective study of 1069 patients in the university eye hospital of Zurich. 7.35% of these patients had a PES with or without glaucoma. Among the clinic patients there were 9.9% and among the policlinic patients 6.26%. All our patients were elder than 60 years old, 58.9% between 70-85 years. There were 33.37% men and 66.63% women. 33% of the PES-patients had a tension over 22 mmHg. 42.86% of the patients had the highest tension over 30 mmHg. 33.33% (= 26 patients) had a PES without glaucoma and 66.66% (= 52 patients) a PES with glaucoma. 56.42% of the patients (= 44 patients) had in one eye PES and 43.58% (34 patients) in both eyes. 9.61% (= 5 pat.) had an absolute PES-glaucoma in one eye.

  15. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  16. Pseudohypopituitary syndromes.

    PubMed

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  17. Central Pain Syndrome

    MedlinePlus

    ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ...

  18. Thoracic Outlet Syndrome

    MedlinePlus

    ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ...

  19. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  20. Carpal Tunnel Syndrome

    MedlinePlus

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

  1. Guillain-Barre Syndrome

    MedlinePlus

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  2. Chinese restaurant syndrome

    MedlinePlus

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  3. Obesity hypoventilation syndrome (OHS)

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  4. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) Overview Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Women with PCOS may have infrequent or prolonged menstrual periods ...

  5. [Kniest's syndrome (author's transl)].

    PubMed

    Kniest, W; Leiber, B

    1977-12-01

    The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.

  6. Down Syndrome (For Kids)

    MedlinePlus

    ... First Aid & Safety Doctors & Hospitals Videos Recipes for Kids Kids site Sitio para niños How the Body ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  7. Diabetic Hyperosmolar Syndrome

    MedlinePlus

    ... for treatment. Don't wait until your blood sugar is high enough to cause diabetic hyperosmolar syndrome. You have ... prevent diabetic hyperosmolar syndrome. Know the symptoms of high blood sugar. Be alert for the warning symptoms of high ...

  8. Tics and Tourette Syndrome

    MedlinePlus

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  9. Prune belly syndrome

    MedlinePlus

    ... treat or help prevent urinary tract infections. Support Groups The following resources can provide more information on prune belly syndrome: Prune Belly Syndrome Network -- www.prunebelly.org National Organization for Rare Disorders -- ...

  10. Restless Legs Syndrome

    MedlinePlus

    ... Legs Syndrome Condition Restless Legs Syndrome Share Print Table of Contents1. Overview2. Symptoms3. Diagnosis4. Treatment5. Questions Overview ... twitch when you try and sleep (also called periodic limb movements of sleep or PLMS). Diagnosis How ...

  11. Marfan syndrome (image)

    MedlinePlus

    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, ...

  12. Kleine-Levin Syndrome

    MedlinePlus

    ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ...

  13. Cubital Tunnel Syndrome

    MedlinePlus

    ... Tunnel Syndrome Find a hand surgeon near you. Videos Cubital Tunnel Syndrome Close Popup Figures Figure 1 - ... or "in." Also, avoid using media types like "video," "article," and "picture." Tip 4: Your results can ...

  14. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down through ...

  15. Os Trigonum Syndrome

    MedlinePlus

    ... usually triggered by an injury, such as an ankle sprain. The syndrome is also frequently caused by repeated ... other conditions, such as an Achilles tendon injury, ankle sprain or talus fracture. Diagnosis of os trigonum syndrome ...

  16. Acute respiratory distress syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  17. 4H Syndrome

    MedlinePlus

    ... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...

  18. [Myelodysplastic syndromes].

    PubMed

    Thol, F; Heuser, M; Ganser, A

    2015-04-01

    Myelodysplastic syndrome (MDS) encompasses a heterogeneous group of diseases originating in hematopoietic stem cells and is characterized by inefficient hematopoiesis and dysplastic changes in the bone marrow. In peripheral blood patients show anemia (mostly macrocytic), frequently accompanied by neutropenia and thrombocytopenia. Thus, clinically the patients suffer from fatigue (anemia), increased bleeding (thrombocytopenia) and infectious complications (neutropenia). Approximately one quarter of MDS patients develop acute myeloid leukemia (AML) in the course of the disease, which is characterized by a 20 % or more increase of blasts in the bone marrow. The estimated overall survival as well as the risk for AML transformation can be calculated with the international prognostic scoring system (IPSS) as well as the revised IPSS score (IPSS-R). Novel sequencing methods (e.g. next generation sequencing) allow the detection of recurrent gene mutations in MDS patients. Genes of the splicing machinery as well as genes involved in epigenetic regulation (e.g. ASXL1 and TET2) are most frequently mutated in MDS. Therapy is selected based on the patient risk profile (IPSS). Allogeneic stem cell transplantation is a curative approach for high risk patients (i.e. IPSS int-2 and higher) with a good performance status and a biological age below 70 years. Otherwise, high risk patients are treated with demethylating agents (e.g. decitabine and azacitidine). Low risk patients (IPSS low and int-1) mainly receive supportive therapy including iron chelation. An exceptional position is presented by MDS with an isolated 5q deletion as it can be treated with lenalidomide with good success. Enrolling patients in clinical trials is strongly recommended to improve the prospects of this disease.

  19. Postthrombotic syndrome.

    PubMed

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  20. Kounis syndrome and ziprasidone.

    PubMed

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... repeated several times in one area of the X chromosome. The more repeats, the more likely the ...

  2. [XYY syndrome (diplo-Y syndrome)].

    PubMed

    Braun-Scharm, H; Schroeder-Kurth, T M

    1986-01-01

    A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

  3. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  4. Management of postpolio syndrome.

    PubMed

    Thorsteinsson, G

    1997-07-01

    Recent research has shed light on the pathogenesis of the postpolio syndrome and has helped explain its symptoms and the rationale for management. The aim of this article is to familiarize physicians with this syndrome. The history, acute infection, definition, and diagnosis are discussed, as well as the various symptoms and their management. People with postpolio syndrome can educate health professionals about this condition and can help others inflicted with this syndrome. Thus far, no cure is available. A correct diagnosis is important, and the physician must realize that severe comorbidities tend to afflict people with this syndrome. Numerous management options are available to help these people enjoy a high quality of life.

  5. Hantavirus pulmonary syndrome.

    PubMed

    Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

    2010-03-01

    Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

  6. Gorlin-Goltz Syndrome

    PubMed Central

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

    2012-01-01

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

  7. Fat embolism syndrome

    PubMed Central

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

    2013-01-01

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

  8. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc.

  9. A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

    PubMed Central

    KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-01-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

  10. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

  11. [Münchhausen syndrome].

    PubMed

    Robert, J C; Cremniter, D; Lejonc, J L

    1991-04-20

    Münchhausen's syndrome is characterized by fictitious illnesses associated with hospital peregrination, pseudologia fantastica with a mythomanic discourse that includes strongly structured medical elements, passivity and dependance at examinations, and aggressiveness. The whole picture is so typical that the syndrome can easily be recognized. Cases of Münchhausen's syndrome by proxy (Meadow's syndrome) have been reported during the last few years; the condition concerns children suffering from diseases which are entirely due to their parents and can be compared with the battered child syndrome. In terms of nosology, among pathomimias Münchhausen's syndrome figures as a borderline state. Since it is impossible to establish positive relations with these patients, treatment fails in almost every case.

  12. SAPHO syndrome associated spondylitis

    PubMed Central

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

    2008-01-01

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

  13. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  14. Genetics Home Reference: Bartter syndrome

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  15. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  16. Cushing's syndrome in pregnancy.

    PubMed

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

    2015-02-01

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

  17. Peeling skin syndrome.

    PubMed

    Ilknur, Turna; Demirtaşoğlu, Melda; Akarsu, Sevgi; Lebe, Banu; Güneş, Ali Tahsin; Ozkan, Sebnem

    2006-01-01

    Peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin. To date, several cases have been described with different clinical features called peeling skin syndrome. Previous reports describe two types (type A and type B) of peeling skin syndrome, both of which show generalized desquamation, sparing palms and soles. We report a 23-year old man who has been classified as neither type A nor type B, and whose history, clinical features and histopathological findings led to a diagnosis of peeling skin syndrome. In addition, the desquamation pattern in our patient was different from that of both types because our case's palms and soles were involved too.

  18. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  19. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

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

  20. Genetics Home Reference: otopalatodigital syndrome type 2

    MedlinePlus

    ... Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and Management Resources ( ... syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related Information How ...

  1. Genetics Home Reference: otopalatodigital syndrome type 1

    MedlinePlus

    ... Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and Management Resources ( ... syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related Information How ...

  2. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  3. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  4. Geriatric Sexuality Breakdown Syndrome.

    ERIC Educational Resources Information Center

    Kaas, Merrie Jean

    1981-01-01

    Focuses on the relationship between social environment and the older individual. By utilizing the Social Breakdown Syndrome a cycle of events is defined by the Geriatric Sexuality Breakdown Syndrome, in which an older individual is initially predisposed to diminished sexual activity to the end point of self-identification as nonsexual. (Author)

  5. The Othello Syndrome

    PubMed Central

    Famuyiwa, Oluwole O.; Ekpo, Micheal

    1983-01-01

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

  6. Sjogren's Syndrome Information Page

    MedlinePlus

    ... are here Home » Disorders » All Disorders Sjögren's Syndrome Information Page Sjögren's Syndrome Information Page What research is being done? The goals ... the U.S. and Worldwide NINDS Clinical Trials Related Information Patient Organizations Arthritis Foundation National Eye Institute (NEI) ...

  7. Streptococcal Toxic Shock syndrome.

    PubMed

    Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

    2014-09-01

    Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control.

  8. Munchausen Syndrome by Proxy

    PubMed Central

    Yaacob, B.M.J

    1999-01-01

    Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

  9. Cushing Syndrome: Other FAQs

    MedlinePlus

    ... N., & Hofeldt, F. D. (1990). Cushing’s syndrome in pregnancy. Obstetrical & Gynecological Survey, 45 (2), 87-93. PMID 2405312 . Lindsay, J. R., Jonklaas, J., Oldfield, E. H., & Nieman, L. K. (2005). Cushing’s syndrome during pregnancy: Personal experience and review of the literature. Journal ...

  10. Complex Regional Pain Syndrome

    MedlinePlus

    ... Other major and minor traumas — such as surgery, heart attacks, infections and even sprained ankles — can also lead to complex regional pain syndrome. It's not well-understood why these injuries can trigger complex regional pain syndrome. Not everyone who has ...

  11. Syndrome in question*

    PubMed Central

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

    2015-01-01

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

  12. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

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

  13. Symbrachydactyly in Turner's syndrome.

    PubMed

    De Smet, L; Fryns, J P

    1995-01-01

    In the report we describe the occurrence of symbrachydactyly of the right hand in an adult female with Turner syndrome and classical 45,X karyotype. Symbrachydactyly is a unilateral and sporadic hand malformation. The pathogenesis may be part of an arterial vascular disruption sequence, possibly secondary to fetal oedema which is an important and frequent symptom in the prenatal development of Turner syndrome foetusses.

  14. Beckwith-Wiedemann syndrome

    MedlinePlus

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  15. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

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

  16. Shaken Baby Syndrome

    MedlinePlus

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  17. What Causes Rett Syndrome?

    MedlinePlus

    ... early-onset seizure variant of Rett syndrome. Human Molecular Genetics , Jul 15;14(14), 1935–1946. Retrieved June ... Dragich, J., & Schanen, C. (2003). Rett Syndrome: Clinical-Molecular Correlates. In G. Fisch (Ed.), Genetics and neurobehavioral disorders (pp. 391–418). Totowa, NJ: ...

  18. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  19. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  20. Gorlin-goltz syndrome.

    PubMed

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

    2014-03-01

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

  1. Gorlin-Goltz Syndrome

    PubMed Central

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

    2014-01-01

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

  2. Lumbar dorsal ramus syndrome.

    PubMed

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  3. [Psychopharmacology and metabolic syndrome].

    PubMed

    Telles-Correia, Diogo; Guerreiro, Diogo F; Coentre, Ricardo; Coentre, Rui; Góis, C; Figueira, Luísa

    2008-01-01

    Metabolic Syndrome consists in a group of metabolic changes, being the most important problem insulin resistence. Other important components of this syndrome are abdominal obesity, hypertension and hyperlipidemia /hypercholestrolemia. It was demonstrated that psychiatric patients have a greater risk to develop metabolic syndrome with a prevalence of 41%. Prevalence of this syndrome in psychiatric male patients is 138% higher than in general population and in female patients 251% higher. Some of the factors that can explain this increase of metabolic risk in psychiatric patients are psychiatric drugs. We preformed a systematic review of literature published until June, 2007, by means of MEDLINE. Studies reviewed include clinical cases, reviews, analytic and observational studies. We selected 72 articles. Authors pretend to understand the mechanisms, by which, different psychiatric drugs can influence metabolic syndrome, and strategies for prevention of this situation.

  4. [The refeeding syndrome].

    PubMed

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

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

  5. Seckel syndrome and moyamoya.

    PubMed

    Codd, Patrick J; Scott, R Michael; Smith, Edward R

    2009-04-01

    Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Occurring in 1 in 10,000 children without sex preference, it is the most common primordial microcephalic osteodysplastic dwarfism and has been associated with a variety of congenital brain malformations and intracranial aneurysms. Moyamoya syndrome is an idiopathic, chronic, progressive cerebrovascular disorder marked by stenosis of the intracranial internal carotid arteries and concurrent development of hypertrophied collateral vessels. These tortuous arterial collaterals appear radiographically as "puffs of smoke," giving the syndrome its name. In this report, the authors describe the case of a 16-year-old girl with coincident Seckel and moyamoya syndromes. To their knowledge, this is the first reported case of such an association being treated with surgical revascularization. The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. Imaging studies revealed multiple completed cerebral infarcts, global ischemic changes, and vascular anatomy consistent with moyamoya syndrome. Bilateral pial synangioses successfully revascularized each hemisphere with resolution of the patient's symptoms. The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. In addition, the report reveals the rapid development of an intracranial aneurysm in a patient with this syndrome. When coupled with previous reports of other types of cerebrovascular disease in patients with Seckel syndrome or other primordial dwarfisms, the authors' findings are important because they suggest that physicians treating patients with dwarfism should consider the diagnosis of

  6. Fat embolism syndrome.

    PubMed

    Stein, Paul D; Yaekoub, Abdo Y; Matta, Fadi; Kleerekoper, Michael

    2008-12-01

    To assess the incidence and risk factors for fat embolism syndrome. Data from the National Hospital Discharge Survey (NHDS) were analyzed using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. From 1979 through 2005 among 928,324,000 patients discharged from short-stay hospitals in the United States, 41,000 (0.004%) had fat embolism syndrome. Among 21,538,000 patients with an isolated fracture of the femur (any site), tibia, fibula, pelvis, ribs, humerus, radius, or ulna, 25,000 (0.12%) developed fat embolism syndrome. Patients with multiple fractures of the femur (excluding neck) more often had fat embolism syndrome than those with isolated fractures (1.29% versus 0.54%). The incidence of fat embolism syndrome was lower with isolated fractures of the tibia or fibula (0.30%) and even lower with isolated fractures of the neck of the femur (0.06%). The incidence of fat embolism was too low to calculate with isolated fractures of the pelvis, ribs, humerus, radius, or ulna. Nonorthopedic conditions rarely, if ever, were accompanied by fat embolism syndrome. The fat embolism syndrome was more frequent in men (relative risk 5.71). Children, aged 0 to 9 years rarely had fat embolism syndrome. The fat embolism syndrome most commonly affected patients aged 10 to 39 years. The incidence of the fat embolism syndrome depends on the bone involved, whether fractures are isolated or multiple, the age of the patient and the gender. It rarely occurs as a result of medical conditions.

  7. [Asthenic syndrome in patients with burnout syndrome].

    PubMed

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  8. Syndrome in question: Gorlin-Goltz syndrome.

    PubMed

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  9. Down syndrome, RASopathies, and other rare syndromes.

    PubMed

    Kratz, Christian P; Izraeli, Shai

    2017-04-01

    In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    PubMed

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  11. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    PubMed

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  12. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

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

  13. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

    PubMed Central

    2011-01-01

    Introduction Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome (NOMID/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1β (IL-1β) release. CAPS is a rare hereditary auto-inflammatory disease, which may start early in childhood and requires a life-long treatment. Canakinumab, a fully human anti-IL-1β antibody, produces sustained selective inhibition of IL-1β. This study was conducted to assess the efficacy, safety, and pharmacokinetics of canakinumab in the treatment of pediatric CAPS patients. Methods Seven pediatric patients (five children and two adolescents) with CAPS were enrolled in a phase II, open-label study of canakinumab in patients with CAPS. Canakinumab was administered at a dose of 2 mg/kg subcutaneously (s.c.) (for patients with body weight ≤ 40 kg) or 150 mg s.c. (for patients with body weight > 40 kg) with re-dosing upon each relapse. The primary efficacy variable was time to relapse following achievement of a complete response (defined as a global assessment of no or minimal disease activity and no or minimal rash and values for serum C-reactive protein (CRP) and/or serum amyloid A (SAA) within the normal range, < 10 mg/L). Results All patients achieved a complete response within seven days after the first dose of canakinumab and responses were reinduced on retreatment following relapse. Improvements in symptoms were evident within 24 hours after the first dose, according to physician assessments. The estimated median time to relapse was 49 days (95% CI 29 to 68) in children who received a dose of 2 mg/kg. Canakinumab was well tolerated. One serious adverse event, vertigo, was reported, but resolved during treatment. Conclusions Canakinumab, 2 mg/kg or

  14. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).

    PubMed

    Kuemmerle-Deschner, Jasmin B; Ramos, Eduardo; Blank, Norbert; Roesler, Joachim; Felix, Sandra D; Jung, Thomas; Stricker, Kirstin; Chakraborty, Abhijit; Tannenbaum, Stacey; Wright, Andrew M; Rordorf, Christiane

    2011-02-28

    Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome (NOMID/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1β (IL-1β) release. CAPS is a rare hereditary auto-inflammatory disease, which may start early in childhood and requires a life-long treatment. Canakinumab, a fully human anti-IL-1β antibody, produces sustained selective inhibition of IL-1β. This study was conducted to assess the efficacy, safety, and pharmacokinetics of canakinumab in the treatment of pediatric CAPS patients. Seven pediatric patients (five children and two adolescents) with CAPS were enrolled in a phase II, open-label study of canakinumab in patients with CAPS. Canakinumab was administered at a dose of 2 mg/kg subcutaneously (s.c.) (for patients with body weight ≤ 40 kg) or 150 mg s.c. (for patients with body weight > 40 kg) with re-dosing upon each relapse. The primary efficacy variable was time to relapse following achievement of a complete response (defined as a global assessment of no or minimal disease activity and no or minimal rash and values for serum C-reactive protein (CRP) and/or serum amyloid A (SAA) within the normal range, < 10 mg/L). All patients achieved a complete response within seven days after the first dose of canakinumab and responses were reinduced on retreatment following relapse. Improvements in symptoms were evident within 24 hours after the first dose, according to physician assessments. The estimated median time to relapse was 49 days (95% CI 29 to 68) in children who received a dose of 2 mg/kg. Canakinumab was well tolerated. One serious adverse event, vertigo, was reported, but resolved during treatment. Canakinumab, 2 mg/kg or 150 mg s.c., induced rapid and sustained

  15. Dysmobility syndrome: current perspectives.

    PubMed

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%-34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome.

  16. [Hyperimmunoglobulin D syndrome].

    PubMed

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

    1995-09-16

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

  17. ["Refuse hoarding syndrome"].

    PubMed

    Jürgens, A

    2000-01-01

    The "litter hoarding syndrome" is described only occasionally during the past decades. It seems to be rather unknown in the psychiatric literature. In the course of the syndrome the patients gather more and more litter in their homes until it becomes unhabitable. Physicians and social psychiatric services are often confronted with this manifestation of a psychiatric illness. Because of the dramatic development, the extent and the specific circumstances this paper reports case of a young female patient with the litter hoarding syndrome. The term "litter hoarding syndrome" was first coined by Dettmering [3] during a lecture on 25.1.1984 in the Psychiatric Clinic of the Eppendorf University Hospital in Hamburg. In 1985 Klosterkötter et al. [7] described the "diogenes syndrome" which offered some nosological similarities. With the exception of this publications an the PhD thesis by Pastenaci [11] only a few reports have been published during the last 28 years throughout the world and no epidemiological data about the syndrome can be found. Based on this case some ideas about differential diagnosis and syndrome classification shall be presented.

  18. [Streptococcal toxic shock syndrome].

    PubMed

    Gvozdenović, Ljiljana; Pasternak, Janko; Milovanović, Stanislav; Ivanov, Dejan; Milić, Sasa

    2010-01-01

    Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can he involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure (and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient's mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated: penicillin or a beta-lactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  19. The cardiofaciocutaneous syndrome

    PubMed Central

    Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G

    2006-01-01

    The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward‐slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain‐of‐function mutations in four different genes BRAF, KRAS, mitogen‐activated protein/extracellular signal‐regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal‐regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP‐2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. PMID:16825433

  20. Loin pain hematuria syndrome.

    PubMed

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  1. Rare case of nephrotic syndrome: Schimke syndrome.

    PubMed

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  2. Fluency disorders in genetic syndromes.

    PubMed

    Van Borsel, John; Tetnowski, John A

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large). An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings. The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

  3. Hypertriglyceridemia thalassemia syndrome.

    PubMed

    Jain, Mili; Ali, Wahid; Singh, Brijendra Bahadur; Verma, Nishant; Kumar, Ashutosh

    2018-06-14

    Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

  4. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

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

  5. [Refeeding syndrome: practical issues].

    PubMed

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  6. Recurrent Miller Fisher syndrome.

    PubMed

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  7. [Norrie syndrome (author's transl)].

    PubMed

    Schmitz-Valckenberg, P; Scholz, W

    1977-10-01

    The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

  8. Red ear syndrome.

    PubMed

    Purdy, R Allan; Dodick, David W

    2007-08-01

    The red ear syndrome is a rare syndrome originally described by Lance in 1994. It involves pain in and around the ear and associated autonomic phenomena, the most significant of which is cutaneous erythema of the ear ipsilateral to the pain and obvious to the patient and examiner during the attack. It may well represent an auriculo-autonomic cephalgia and/or be part of the group of disorders recognized as trigeminal autonomic cephalalgias. As a syndrome, it still lacks specificity in regard to etiology, mechanisms, and treatment but is important to recognize clinically because of its associations.

  9. Melkersson-Rosenthal Syndrome

    MedlinePlus

    ... It can be symptomatic of Crohn's disease or sarcoidosis. × Definition Melkersson-Rosenthal syndrome is a rare neurological ... It can be symptomatic of Crohn's disease or sarcoidosis. View Full Definition Treatment Treatment is symptomatic and ...

  10. Crigler-Najjar syndrome

    MedlinePlus

    ... Najjar); Arias syndrome (type II Crigler-Najjar) Images Liver anatomy References Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease . 10th ed. Philadelphia, PA: Elsevier Saunders; 2016: ...

  11. Brown-Sequard Syndrome

    MedlinePlus

    ... infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. × Definition Brown-Sequard syndrome (BSS) is a rare ... infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. View Full Definition Treatment Generally treatment for individuals ...

  12. Learning about Marfan Syndrome

    MedlinePlus

    ... threatening symptom of Marfan syndrome. They include dilated aorta just as it leaves the heart (at the ... clinical diagnostic features: Dilatation or dissection of the aorta at the level of the sinuses of Valsava. ...

  13. Ramsay Hunt syndrome

    MedlinePlus

    ... Redleaf MI, Perry BP, Gubbels SP. Management of Bell's palsy and Ramsay Hunt syndrome. In: Brackmann DE, Shelton ... any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should ...

  14. Facts about Tourette Syndrome

    MedlinePlus

    ... type="submit" value="Submit" /> Information For… Media Policy Makers ... about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ...

  15. Rett Syndrome: Overview

    MedlinePlus

    ... Browse AZTopics Browse A-Z Adrenal Gland Disorders Autism Spectrum Disorder (ASD) Down Syndrome Endometriosis Learning Disabilities ... NICHD Research Information Find a Study More Information Autism Spectrum Disorder (ASD) About NICHD Research Information Find ...

  16. Fragile X Syndrome Overview

    MedlinePlus

    ... Browse AZTopics Browse A-Z Adrenal Gland Disorders Autism Spectrum Disorder (ASD) Down Syndrome Endometriosis Learning Disabilities ... NICHD Research Information Find a Study More Information Autism Spectrum Disorder (ASD) About NICHD Research Information Find ...

  17. Treacher-Collins syndrome

    MedlinePlus

    ... counseling is recommended if you have a family history of this syndrome and wish to become ... BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016: ...

  18. Cri du chat syndrome

    MedlinePlus

    ... is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic ... BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016: ...

  19. Klippel-Trenaunay syndrome

    MedlinePlus

    ... present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, ... inherited). Symptoms Symptoms of KTS include: Many port wine stains or other blood vessel problems, including dark ...

  20. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

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

  1. Down Syndrome (For Parents)

    MedlinePlus

    ... Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & Hospitals ... traits abnormalities associated with Down syndrome. Cell free DNA. This test analyzes fetal DNA found in the ...

  2. Proteus Syndrome Foundation

    MedlinePlus

    ... Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift ... data It’s easy to join There is no cost to you: the costs are supported by the ...

  3. Computer Vision Syndrome.

    PubMed

    Randolph, Susan A

    2017-07-01

    With the increased use of electronic devices with visual displays, computer vision syndrome is becoming a major public health issue. Improving the visual status of workers using computers results in greater productivity in the workplace and improved visual comfort.

  4. Hereditary Mixed Polyposis Syndrome

    MedlinePlus

    ... family. For most families with HMPS, a specific gene mutation causing the syndrome cannot be identified, although some ... Most, but not all, people with inherited GREM1 gene mutations are of Ashkenazi Jewish ancestry. How is HMPS ...

  5. Blueberries and Metabolic Syndrome

    USDA-ARS?s Scientific Manuscript database

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

  6. Gorlin-Goltz syndrome.

    PubMed

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

    2012-01-01

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

  7. Gorlin-Goltz syndrome

    PubMed Central

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

    2012-01-01

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

  8. Polycystic Ovary Syndrome (PCOS)

    MedlinePlus

    ... About Share Facebook Twitter Pinterest Email Print About Polycystic Ovary Syndrome (PCOS) PCOS is a set of symptoms related to ... women and girls of reproductive age. What is PCOS? PCOS is a set of symptoms related to ...

  9. Facts About Usher Syndrome

    MedlinePlus

    ... or hearing loss and an eye disease called retinitis pigmentosa (RP). Deafness or hearing loss in Usher syndrome ... 27. 6 Berson, E.L. (1998). Treatment of retinitis pigmentosa with vitamin A . Digital Journal of Ophthalmology, 4( ...

  10. Carpal Tunnel Syndrome

    MedlinePlus

    ... Keep me signed in Passwords are Case Sensitive. Ex. Enter smith as follows: Smith Forgot Username/Password? ... Erythematosus (Juvenile) Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome (Juvenile) Vasculitis Enfermedades y ...

  11. International Rett Syndrome Foundation

    MedlinePlus

    ... of families and professionals. Sign up Join RettSyndrome.org Join our community to receive updates from the ... 2520 International: 1-513-874-3020 admin@rettsyndrome.org EIN 31-1682518 CFC 11046 Newsroom PSA Press ...

  12. Tourette Syndrome (For Parents)

    MedlinePlus

    ... help their child cope with the condition. About Tics Two types of tics are associated with Tourette syndrome: Motor tics — sudden, apparently uncontrollable movements such as exaggerated eye ...

  13. Alport Syndrome Diagnosis

    MedlinePlus

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

  14. [Short bowel syndrome].

    PubMed

    Parfenov, A I; Sabelnikova, E A; Kuzmina, T N

    2017-01-01

    The paper gives information on the classification, pathogenesis, and clinical manifestations of short bowel syndrome following after intestinal resection. It discusses the treatment and rehabilitation of patients with this condition.

  15. Acute Radiation Syndrome

    MedlinePlus

    ... on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public Language: English ( ... radiation dose. People exposed to radiation will get ARS only if: The radiation dose was high The ...

  16. Myelodysplastic Syndromes (MDS)

    MedlinePlus

    ... del paciente Transplant process Diseases treated by transplant Acute myeloid leukemia Adrenoleukodystrophy (ALD) Chronic Lymphocytic Leukemia (CLL) ... SCID) Sickle cell disease (SCD) Wiskott-Aldrich syndrome Acute lymphoblastic leukemia (ALL) Other diseases Treatment decisions Learn ...

  17. Myofascial Pain Syndrome

    MedlinePlus

    ... to develop trigger points in their muscles. One theory holds that these people may be more likely ... doctors believe myofascial pain syndrome may play a role in starting this process. By Mayo Clinic Staff . ...

  18. Guillain-Barre Syndrome

    MedlinePlus

    ... a few cases reported following infection with the Zika virus. In Guillain-Barre syndrome, your immune system — which ... undercooked poultry Influenza virus Cytomegalovirus Epstein-Barr virus Zika virus Hepatitis A, B, C and E HIV, the ...

  19. Chronic Exertional Compartment Syndrome

    MedlinePlus

    ... Sometimes chronic exertional compartment syndrome is mistaken for shin splints, a more common cause of leg pain in ... such as running. If you think you have shin splints but they don't get better with self- ...

  20. Stevens-Johnson Syndrome

    MedlinePlus

    ... after blisters form If you have Stevens-Johnson syndrome, several days before the rash develops you may experience: Fever Sore mouth and throat Fatigue Cough Burning eyes When to see a doctor Stevens-Johnson ...

  1. Acute Coronary Syndrome

    MedlinePlus

    ... angina? This content was last reviewed July 2015. Heart Attack • Home • About Heart Attacks Acute Coronary Syndrome (ACS) ... Recovery FAQs • Heart Attack Tools & Resources • Support Network Heart Attack Tools & Resources My Cardiac Coach What Is a ...

  2. Congenital nephrotic syndrome

    MedlinePlus

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

  3. Tarsal tunnel syndrome

    MedlinePlus

    Tibial nerve dysfunction; Neuropathy - posterior tibial nerve; Peripheral neuropathy - tibial nerve; Tibial nerve entrapment ... Tarsal tunnel syndrome is an unusual form of peripheral neuropathy . It occurs when there is damage to the ...

  4. Hallermann-Streiff Syndrome

    PubMed Central

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

    2013-01-01

    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. PMID:24082185

  5. Lesch-Nyhan Syndrome

    MedlinePlus

    ... with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. × Treatment Treatment for LNS is symptomatic. Gout can ... with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. View Full Treatment Information Definition Lesch-Nyhan syndrome ( ...

  6. Sick Sinus Syndrome

    MedlinePlus

    ... rhythm problems (arrhythmias) in which the heart's natural pacemaker (sinus node) doesn't work properly. The sinus ... people with sick sinus syndrome eventually need a pacemaker to keep the heart in a regular rhythm. ...

  7. Exploding head syndrome.

    PubMed

    Sharpless, Brian A

    2014-12-01

    Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up. They are usually painless, but associated with fear and distress. In spite of the fact that its characteristic symptomatology was first described approximately 150 y ago, exploding head syndrome has received relatively little empirical and clinical attention. Therefore, a comprehensive review of the scientific literature using Medline, PsycINFO, Google Scholar, and PubMed was undertaken. After first discussing the history, prevalence, and associated features, the available polysomnography data and five main etiological theories for exploding head syndrome are summarized. None of these theories has yet reached dominance in the field. Next, the various methods used to assess and treat exploding head syndrome are discussed, as well as the limited outcome data. Finally, recommendations for future measure construction, treatment options, and differential diagnosis are provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Fragile X Syndrome

    MedlinePlus

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

  9. Complex Regional Pain Syndrome

    MedlinePlus

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

  10. Irritable Bowel Syndrome

    MedlinePlus

    Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel ... go back and forth between the two. Although IBS can cause a great deal of discomfort, it ...

  11. Hennekam lymphangiectasia syndrome

    PubMed Central

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  12. Ketonuria and HELLP syndrome

    PubMed Central

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

    2009-01-01

    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

  13. Ketonuria and HELLP syndrome.

    PubMed

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

    2009-01-01

    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.

  14. Horner syndrome: clinical perspectives

    PubMed Central

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  15. [Alice in Wonderland syndrome].

    PubMed

    Asensio-Sánchez, V M

    2014-02-01

    A case of Alice in Wonderland syndrome is described as the only sign of Epstein-Barr virus infection. Epstein-Barr virus infection may include visual symptoms as the first or only signs of disease. All patients presenting with a clinical picture consistent with the Alice in Wonderland syndrome should undergo serological testing for Epstein-Barr virus infection. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  16. Unmasking Diogenes Syndrome

    PubMed Central

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

    2015-01-01

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

  17. Gorlin-Goltz syndrome.

    PubMed

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

    2010-01-01

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

  18. Gorlin-Goltz syndrome.

    PubMed

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

    2009-07-01

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

  19. Gorlin-Goltz syndrome

    PubMed Central

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

    2010-01-01

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

  20. Jaffe-Campanacci syndrome.

    PubMed

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

    2005-01-01

    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.

  1. Temperament in Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  2. Scombroid fish poisoning syndrome.

    PubMed

    Dickinson, G

    1982-09-01

    Two patients presented to the emergency department with features of a histamine-like reaction and were subsequently determined to have scombroid fish poisoning. It is important to recognize the syndrome as an intoxication rather than an allergic reaction in order that the source of the toxin can be identified and further cases prevented. A review of the features and pathogenesis of the syndrome is presented.

  3. [The exploding head syndrome].

    PubMed

    Bongers, K M; ter Bruggen, J P; Franke, C L

    1991-04-06

    The case is reported of a 47-year old female suffering from the exploding head syndrome. This syndrome consists of a sudden awakening due to a loud noise shortly after falling asleep, sometimes accompanied by a flash of light. The patient is anxious and experiences palpitations and excessive sweating. Most patients are more than fifty years of age. Further investigations do not reveal any abnormality. The pathogenesis is unknown, and no therapy other than reassurance is necessary.

  4. Shah-Waardenburg Syndrome

    PubMed Central

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

    2013-01-01

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

  5. Shah-Waardenburg syndrome.

    PubMed

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

    2013-01-01

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

  6. Infections in myelodysplastic syndromes

    PubMed Central

    Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

    2012-01-01

    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. PMID:22733024

  7. Rett syndrome and menstruation.

    PubMed

    Hamilton, Amy; Marshal, Michael P; Sucato, Gina S; Murray, Pamela J

    2012-04-01

    Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment. Anonymous web-based survey. Convenience sample recruited from Rett syndrome LISTSERV in July of 2009. Mothers of girls with Rett syndrome between the ages of 10-25 who have had at least one menses. Prevalence, frequency, and severity of dysmenorrhea and PMS; hygiene concerns; and treatments attempts and perceived effectiveness. Dysmenorrhea and PMS are common problems among young women with Rett syndrome. Despite their frequency and severity they do not routinely limit activities. Multiple treatment attempts are common. Hormonal contraception is used mostly for menstrual cycle control with oral contraceptive pills the most commonly used method. Young women with Rett syndrome have standard symptoms of dysmenorrhea and PMS as well as autism spectrum specific PMS symptoms. Hormonal contraception is commonly used for menstrual management. Copyright © 2012 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  8. Unusual headache syndromes.

    PubMed

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  9. Acute radiation syndrome and chronic radiation syndrome.

    PubMed

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

    2013-01-01

    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.

  10. Familial intrahepatic cholestatic syndromes.

    PubMed

    Riely, C A

    1987-05-01

    This discussion has illustrated the enormous variety found within the category of familial intrahepatic cholestasis. It has also demonstrated how much more there is to learn about these fascinating disorders, which may be examples of experiments in nature on bile formation. This analysis should be recognized to be the author's own, and there is much debate about this classification. For example, some workers in this field contend that North American Indian cholestasis is in reality Byler's syndrome. Such an identity seems unlikely, given the differences between the two syndromes (Table 2). This is a field that is changing rapidly. Recently, a new cholestatic syndrome, bearing some similarities to benign recurrent intrahepatic cholestasis, but dissimilar in several ways, has been reported. There is evidence that cholestasis of pregnancy may be inherited as an autosomal dominant, sex-limited trait. If further studies confirm a genetic etiology, this syndrome would be the most common form of familial intrahepatic cholestasis. The assessment of any individual case remains difficult, particularly early in the course. Table 2 can serve as a guide to the differential diagnosis of these conditions. When faced with a neonate with jaundice, all of the usual causes must be ruled out first. The pattern of bile acids in serum is useful for ruling out Zellweger's syndrome. A good family history and physical examination, particularly of the heart, are important. An ophthalmologic examination by a specialist, often under anesthesia, and a spine radiograph can be useful in confirming a diagnosis of Alagille's syndrome. A liver biopsy, carefully interpreted with input from the clinician, is useful in pointing toward one direction or another. Often a firm conclusion cannot be reached, or is reached prematurely, so the clinician would be advised to inform the parents of all diagnostic possibilities in order to avoid false hopes or unwarranted depression. The diagnostic pitfalls to be

  11. Autoimmune Basis for Postural Tachycardia Syndrome

    ClinicalTrials.gov

    2018-01-23

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  12. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  13. Wells syndrome and its relationship to Churg-Strauss syndrome.

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  14. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

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

  15. Asperger's syndrome in adulthood.

    PubMed

    Roy, Mandy; Dillo, Wolfgang; Emrich, Hinderk M; Ohlmeier, Martin D

    2009-01-01

    Asperger's syndrome is one of the autism spectrum disorders. Affected individuals display considerably impaired capacity for social interaction, unusual special interests, and a tendency towards ritualized behavior. The etiology, symptoms, diagnosis, and treatment of Asperger's syndrome in adulthood are outlined on the basis of a selective literature review via Medline and information in relevant reference books. Furthermore, the authors report their personal experience at a special clinic for adults. Asperger's syndrome in adulthood can be diagnosed by thorough anamnesis, heteroanamnesis-with emphasis on childhood-and painstaking clinical examination. The considerable psychosocial impairments affect the patients' professional, social, and private lives. The precise etiology is still unknown, but a multifactorial origin with genetic, neurobiological, and psychosocial components appears probable. Although no specific, empirically tested treatment concepts have yet been established, psychotherapeutic elements (structuring and directive interventions) seem to be helpful, together with pharmacotherapy-if indicated-in the presence of comorbidity. Asperger's syndrome should be included in the differential diagnosis of adults who display the corresponding symptoms. The etiopathogenesis and treatment of Asperger's syndrome in adulthood should be further investigated.

  16. Juvenile polyposis syndrome

    PubMed Central

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

  17. Meningioma in Down Syndrome.

    PubMed

    Yamamoto, Takahiro; Shinojima, Naoki; Todaka, Tatemi; Nishikawa, Shigeyuki; Yano, Shigetoshi; Kuratsu, Jun-ichi

    2015-09-01

    Down syndrome comprises multiple malformations and is due to trisomy of chromosome 21. There is epidemiologic evidence that individuals with Down syndrome are at decreased risk for solid tumors including brain tumors. It has been suggested that some genes expressed on the extra copy of chromosome 21 act as tumor suppressor genes and contribute to protection against tumorigenesis. We report the first case to our knowledge of a patient with Down syndrome, an 8-year-old boy, with an intracranial meningioma, in which the status of chromosome 21 was examined. The diagnosis was based on histologic examination of the surgically resected tumor. Postoperatively, the patient's neurologic status improved, and there was no tumor regrowth in the next 2 years. Fluorescence in situ hybridization for chromosome 22 confirmed high allele loss involving the neurofibromin 2 gene locus, a finding typical in meningiomas. Fluorescence in situ hybridization also revealed chromosome 21 heterogeneity in tumor cells; not only cells with trisomy 21 but also cells with disomy and monosomy 21 were present. All blood cells from the patient manifested trisomy 21. Deletion of the chromosome 21 allele may be associated with tumorigenesis of meningioma in Down syndrome. This supports the hypothesis that some genes whose expression is increased on the extra copy of chromosome 21 function as tumor suppressor genes and that they contribute to the reduced tumor incidence in individuals with Down syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Carpal Tunnel Syndrome

    PubMed Central

    Zimmerman, Gregory R.

    1994-01-01

    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. PMID:16558255

  19. Fat embolism syndrome

    PubMed Central

    Richards, Robin R.

    1997-01-01

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

  20. Genetics Home Reference: Williams syndrome

    MedlinePlus

    ... Berman KF. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005 Aug;8( ... syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7( ...

  1. Genetics Home Reference: Rett syndrome

    MedlinePlus

    ... NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Rett syndrome: revised diagnostic criteria and ... 2):118-28. Review. Citation on PubMed Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. ...

  2. Genetics Home Reference: Gillespie syndrome

    MedlinePlus

    ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of Gillespie syndrome ... Developmental Disabilities Health Topic: Eye Diseases Genetic and Rare Diseases Information Center (1 link) Gillespie syndrome Educational Resources ( ...

  3. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePlus

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

  4. Treatment Options for Myelodysplastic Syndromes

    MedlinePlus

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

  5. Syndromic Disorders with Short Stature

    PubMed Central

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  6. First Trimester Down Syndrome Screen

    MedlinePlus

    ... Non-invasive Prenatal Screening (2016) Elsewhere On The Web KidsHealth.org: Down Syndrome National Down Syndrome Society ... request form. If your question relates to this web site and not to a specific lab test, ...

  7. Genetics Home Reference: Winchester syndrome

    MedlinePlus

    ... because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to ... groups? Genetic Changes Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1- ...

  8. Genetics Home Reference: Tietz syndrome

    MedlinePlus

    ... groups? Genetic Changes Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions ... development of the retinal pigment epithelium. MITF gene mutations that cause Tietz syndrome either delete or change ...

  9. Genetics Home Reference: Stormorken syndrome

    MedlinePlus

    ... Genetic Changes Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from ... and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of ...

  10. Genetics Home Reference: CHARGE syndrome

    MedlinePlus

    ... hormones that direct sexual development. As a result, males with CHARGE syndrome are often born with an ... Puberty can be incomplete or delayed in affected males and females. Another minor feature of CHARGE syndrome ...

  11. Genetics Home Reference: oculofaciocardiodental syndrome

    MedlinePlus

    ... the signs and symptoms of OFCD syndrome. In males (who have only one X chromosome ), mutations result ... be lethal very early in development, so no males are born with OFCD syndrome. Related Information What ...

  12. Cornelia de Lange Syndrome Foundation

    MedlinePlus

    ... Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, ...

  13. Refeeding syndrome: a clinical review.

    PubMed

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  14. Review of the refeeding syndrome.

    PubMed

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  15. Genetics Home Reference: Griscelli syndrome

    MedlinePlus

    ... Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome: characterization ... Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Griscelli syndrome types ...

  16. Middle East Respiratory Syndrome (MERS)

    MedlinePlus

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

  17. Middle East Respiratory Syndrome (MERS)

    MedlinePlus

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... for Disease Control and Prevention website. Middle East Respiratory Syndrome (MERS): Frequently asked questions and answers. www. ...

  18. Severe acute respiratory syndrome (SARS)

    MedlinePlus

    SARS; Respiratory failure - SARS ... Complications may include: Respiratory failure Liver failure Heart failure ... 366. McIntosh K, Perlman S. Coronaviruses, including severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS). ...

  19. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  20. Loin pain hematuria syndrome

    PubMed Central

    Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

    2016-01-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  1. [Paraneoplastic syndromes in rheumatology].

    PubMed

    Schmalzing, Marc

    2018-05-01

    Rheumatic paraneoplastic syndromes are paraneoplastic arthritis, palmar fasciitis and polyarthritis syndrome, remitting seronegative symmetrical synovitis with pitting edema, pancreatic panniculitis with polyarthritis, paraneoplastic vasculitis, cancer-associated myositis, hypertrophic osteoarthropathy (Marie-Bamberger disease) and tumor-induced osteomalacia. Typical clinical manifestations, pathogenesis, prognosis, and treatment of this entity are presented. Knowledge of these disease entities can lead to timely diagnosis of the underlying malignant disease and to a higher probability of a cure. Response of the paraneoplastic inflammatory manifestations to corticosteroids, non-steroidal anti-inflammatory drugs or immunosuppressants is often insufficient. Curative removal of the malignant disease is crucial for the course of the paraneoplastic syndrome. When a paraneoplastic etiology of rheumatic symptoms is suspected, a step-wise diagnostic strategy is advisable.

  2. CHURG–STRAUSS SYNDROME

    PubMed Central

    Ghosh, Subhasish; Bhattacharya, Maitreyee; Dhar, Sandipan

    2011-01-01

    Churg–Strauss syndrome (CSS) is a rare granulomatous necrotizing small vessel vasculitis characterized by the presence of asthma, sinusitis, and hypereosinophilia. The cause of this allergic angiitis and granulomatosis is unknown. Other common manifestations are pulmonary infiltrates, skin, gastrointestinal, and cardiovascular involvement. No data have been reported regarding the role of immune complexes or cell mediated mechanisms in this disease, although autoimmunity is evident with the presence hypergammaglobulinemia, increased levels of IgE and Antineutrophil cytoplasmic antibody (positive in 40%). We report the case of a 27-year-old lady presenting with painful swelling of predominantly lower limbs with extensive vesicles and ecchymotic patches and fever shortly after stopping systemic steroids taken for a prolonged duration (2002--2010). The aim of this case report is to point to the possibility of CSS in patients presenting with extensive skin lesions masquerading as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Syndrome (SJS/TENS). PMID:22345778

  3. Lemierre's syndrome (necrobacillosis)

    PubMed Central

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

    1999-01-01

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


Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  4. Psoriasis and metabolic syndrome.

    PubMed

    Sales, Rita; Torres, Tiago

    2014-01-01

    Psoriasis is a chronic, systemic inflammatory disease associated with several cardiometabolic comorbidities, such as obesity, insulin resistance, dyslipidemia, and hypertension, and with clinically significant increased risk of cardiovascular disease and cardiovascular mortality. These comorbidities are components of the metabolic syndrome. Multiple epidemiologic studies have revealed a high prevalence of metabolic syndrome in patients with psoriasis compared with other skin diseases. Genetic susceptibility and overlapping inflammatory pathways may be potential biologic links underlying this association. Understanding the interrelationship between these conditions is important for the management of psoriasis and its associated comorbidities. This review will focus on the range of these comorbidities, with emphasis on the metabolic syndrome, aiming to encourage physicians to screen patients with psoriasis for cardiometabolic disorders and risk factors.

  5. Fish odor syndrome.

    PubMed

    Rehman, H U

    1999-08-01

    Fish odour syndrome (trimethylaminuria) is a metabolic syndrome caused by abnormal excretion of trimethylamine in the breath, urine, sweat, saliva and vaginal secretions. Trimethylamine is derived from the intestinal bacterial degradation of foods rich in choline and carnitine and is normally oxidised by the liver to odorless trimethylamine N-oxide which is then excreted in the urine. Impaired oxidation of trimethylamine is thought to be the cause of the fish odour syndrome and is responsible for the smell of rotting fish. Certain foods rich in choline exacerbate the condition and the patients have a variety of psychological problems. Recognition of the condition is important as dietary adjustments reduce the excretion of trimethylamine and may reduce the odour. Occasionally, a short course of metronidazole, neomycin and lactulose may suppress production of trimethylamine by reducing the activity of gut microflora.

  6. Metabolic syndrome and asthma.

    PubMed

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

    2014-01-01

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

  7. Case report: waardenburg syndrome.

    PubMed

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  8. [Intraoperative floppy iris syndrome].

    PubMed

    Mazal, Z

    2007-04-01

    In the year 2005, Chang and Cambell described unusual reaction of the iris during the cataract surgery in patients treated with tamsulosine. This was named as IFIS, an acronym for the Intraoperative Floppy Iris Syndrome. In its advanced stage, the syndrome is characterized by insufficient mydfiasis before the surgery, narrowing of the pupil during the surgery, its impossible dilatation during the surgery by means of stretching, unusual elasticity of the pupilar margin, surging and fluttering iris with tendency to prolapse. The same manifestations we observed in our patients and we confirm the direct connection with tamsulosine hydrochloride treatment. Tamsulosine is the antagonist of alpha 1A adrenergic receptors whose are present, except in the smooth musculature of the prostate gland and the urinary bladder, in the iris dilator as well. At the same time we observed this syndrome rarely in some patients not using tamsulosine. In most cases, these patients were treated with antipsychotic drugs.

  9. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

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

  10. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

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

  11. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

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

    2002-01-01

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

  12. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  13. Down Syndrome. ERIC Digest #457.

    ERIC Educational Resources Information Center

    Manfredini, Dianne

    This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…

  14. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

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

  15. Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

    PubMed Central

    Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

    2011-01-01

    The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

  16. Updates in Mirizzi syndrome

    PubMed Central

    Valderrama-Treviño, Alan Isaac; Espejel-Deloiza, Mariana; Chernitzky-Camaño, Jonathan; Barrera Mera, Baltazar; Estrada-Mata, Aranza Guadalupe; Ceballos-Villalva, Jesús Carlos; Acuña Campos, Jonathan; Argüero-Sánchez, Rubén

    2017-01-01

    Mirizzi syndrome, known as extrinsic bile compression syndrome, is a rare complication of cholecystitis and chronic cholelithiasis, secondary to the obliteration of the infundibulum of the gallbladder or cystic duct caused by the impact of one or more calculations in these anatomical structures, which leads to compression of the adjacent bile duct, resulting in partial or complete obstruction of the common hepatic duct, triggering liver dysfunction. Our aim is to identify and describe the current epidemiology, diagnostic methods, and treatment of Mirizzi syndrome. A literature search was performed using different databases, including Medline, Cochrane, Embase, Medscape, PubMed, using keywords: Mirizzi syndrome, epidemiology, markers, pathophysiology, clinical presentation, diagnosis, and treatment. Selected original articles, review articles or case reports from 1997 to 2015 were collected, written in English or Spanish. The endoscopic retrograde cholangiopancreatography (ERCP) is the most accurate diagnostic method. The traditional treatment has been surgery and involves an incision at the bottom of the gallbladder and calculus removal. If fistulas are observed, it is performed a partial cholecystectomy; otherwise, a cholecystocholedochoduodenostomy is an alternative. Endoscopic treatment includes biliary drainage and stone extraction. Many surgeons claim that laparoscopic cholecystectomy is contraindicated in Mirizzi syndrome because of the presence of inflammatory tissue and adhesions in the Calot’s triangle. If dissection is attempt, it can cause unnecessary injury to the bile duct. However, other surgeons consider the laparoscopic approach is feasible, although technically challenging. Currently, laparoscopic cholecystectomy for this condition is considered controversial and technically challenging; however, it has shown that with the right skills and equipment, it is a safe and feasible way to treat some cases of Mirizzi syndrome type I and II. PMID

  17. PDGFRA-mutant syndrome.

    PubMed

    Ricci, Riccardo; Martini, Maurizio; Cenci, Tonia; Carbone, Arnaldo; Lanza, Paola; Biondi, Alberto; Rindi, Guido; Cassano, Alessandra; Larghi, Alberto; Persiani, Roberto; Larocca, Luigi M

    2015-07-01

    Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards, however, inflammatory fibroid polyps also revealed PDGFRA mutations. Subsequently, gastrointestinal CD34+ 'fibrous tumors' of uncertain classification were described in a germline PDGFRA-mutant context. Our aim was to characterize the syndrome produced by germline PDGFRA mutations and establish diagnostic criteria and management strategies for this hitherto puzzling disease. We studied a kindred displaying multiple gastrointestinal mesenchymal tumors, comparing it with published families/individuals with possible analogous conditions. We identified a novel inherited PDGFRA mutation (P653L), constituting the third reported example of familial PDGFRA mutation. In adult mutants we detected inflammatory fibroid polyps, gastric GISTs and gastrointestinal fibrous tumors of uncertain nosology. We demonstrate that the syndrome formerly defined as INF/NF3b (exemplified by the family reported herein) is simplistically considered a form of familial GIST, because inflammatory fibroid polyps often prevail. Fibrous tumors appear variants of inflammatory fibroid polyps. 'INF/NF3b' and 'familial GIST' are misleading terms which we propose changing to 'PDGFRA-mutant syndrome'. In this condition, unlike KIT-dependent familial GIST syndromes, if present, GISTs are stomach-restricted and diffuse Cajal cell hyperplasia is not observed. This restriction of GISTs to the stomach in PDGFRA-mutant syndrome: (i) focuses oncological concern on gastric masses, as inflammatory fibroid polyps are benign; (ii) supports a selective role of gastric environment for PDGFRA mutations to elicit GISTs

  18. Marfan syndrome: current perspectives

    PubMed Central

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  19. Marfan syndrome: current perspectives.

    PubMed

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  20. [Munchausen syndrome by proxy].

    PubMed

    Goñi González, T; Martínez Roda, Maria J; de la Cerda Ojeda, F; Gómez de Terreros, I

    2008-06-01

    Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literature.

  1. [Pearson syndrome. Case report].

    PubMed

    Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio

    2011-09-01

    Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

  2. Treatment of metabolic syndrome.

    PubMed

    Wagh, Arati; Stone, Neil J

    2004-03-01

    The metabolic syndrome is intended to identify patients who have increased risk of diabetes and/or a cardiac event due to the deleterious effects of weight gain, sedentary lifestyle, and/or an atherogenic diet. The National Cholesterol Education Program's Adult Treatment Panel III definition uses easily measured clinical findings of increased abdominal circumference, elevated triglycerides, low high-density lipoprotein-cholesterol, elevated fasting blood glucose and/or elevated blood pressure. Three of these five are required for diagnosis. The authors also note that other definitions of metabolic syndrome focus more on insulin resistance and its key role in this syndrome. This review focuses on how treatment might affect each of the five components. Abdominal obesity can be treated with a variety of lower calorie diets along with regular exercise. Indeed, all of the five components of the metabolic syndrome are improved by even modest amounts of weight loss achieved with diet and exercise. For those with impaired fasting glucose tolerance, there is good evidence that a high fiber, low saturated fat diet with increased daily exercise can reduce the incidence of diabetes by almost 60%. Of note, subjects who exercise the most, gain the most benefit. Metformin has also been shown to be helpful in these subjects. Thiazolidinedione drugs may prove useful, but further studies are needed. Although intensified therapeutic lifestyle change will help the abnormal lipid profile, some patients may require drug therapy. This review also discusses the use of statins, fibrates, and niacin. Likewise, while hypertension in the metabolic syndrome benefits from therapeutic lifestyle change, physicians should also consider angiotensin converting enzyme inhibitor drugs or angiotensin receptor blockers, due to their effects on preventing complications of diabetes, such as progression of diabetic nephropathy and due to their effects on regression of left ventricular hypertrophy. Aspirin

  3. [The Patau syndrome].

    PubMed

    Misanović, Verica; Jonuzi, Fedat; Biscević, Emir; Uzicanin, Sajra; Vegar, Sandra

    2002-01-01

    Known as D trisomy, Patau syndrome is the third chromosomopathy according to frequency. One of the 5000 newborn carries the trisomy 13. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. The mosaic or translocation forms are not rare. The mail newborn with Patau syndrome is shown in this article. We notice: microcephalia, dolihocephalia, microphthalmia, cheilognatopalatoshisis, polydactilia, and found ultrasound changes at the brain, hearth and genitourinary system. Cytogenetic finding show: mail cariotype with aberrations 47, XY + 13, Sy Patau.

  4. Burning mouth syndrome.

    PubMed

    Thoppay, Jaisri R; De Rossi, Scott S; Ciarrocca, Katharine N

    2013-07-01

    Burning mouth syndrome (BMS) is a chronic condition that is characterized by burning symptoms of the oral mucosa without obvious clinical examination findings. This syndrome has complex characteristics, but its cause remains largely enigmatic, making treatment and management of patients with BMS difficult. Despite not being accompanied by evident organic changes, BMS can significantly reduce the quality of life for such patients. Therefore, it is incumbent on dental professionals to diagnose and manage patients with BMS as a part of comprehensive care. Copyright © 2013. Published by Elsevier Inc.

  5. Burning Mouth Syndrome.

    PubMed

    Klasser, Gary D; Grushka, Miriam; Su, Nan

    2016-08-01

    Burning mouth syndrome (BMS) is an enigmatic, misunderstood, and under-recognized painful condition. Symptoms associated with BMS can be varied, thereby providing a challenge for practitioners and having a negative impact on oral health-related quality of life for patients. Management also remains a challenge for practitioners because it is currently only targeted for symptom relief without a definitive cure. There is an urgent need for further investigations to determine the efficacy of different therapies because this is the only way viable therapeutic options can be established for patients with this chronic and painful syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. [Prader-Willi syndrome].

    PubMed

    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

    1999-01-01

    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.

  7. Hallerman-Streiff syndrome.

    PubMed

    Nicholson, A D; Menon, S

    1995-01-01

    A 3 day old female neonate with Hallerman Streiff Syndrome presented with white spots in both the eyes. Both eyebrows and eyelashes were found to be sparse. Anterior chamber was found to be shallow. Total cataract was detected with posterior synechiae. Fundus could not be viewed. General examination revealed other features of Hallerman-Streiff Syndrome--short stature, bird like face, atrophy of skin and natal teeth. Lensectomy was carried out for left eye at the age of 10 weeks. However, the child had repeated respiratory tract infections and died at the age of 22 weeks.

  8. Wernicke-Korsakoff syndrome.

    PubMed Central

    Zubaran, C.; Fernandes, J. G.; Rodnight, R.

    1997-01-01

    Alcohol abuse is one of the most serious problems in public health and the Wernicke-Korsakoff syndrome is one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in treatment planning. Treatment is based on restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article, the literature concerning Wernicke-Korsakoff syndrome is reviewed. Images p31-a PMID:9039406

  9. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  10. Extracolonic Manifestations of Lynch Syndrome

    PubMed Central

    Bansidhar, Brian J.

    2012-01-01

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

  11. Cushing syndrome: update on testing.

    PubMed

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Poland's syndrome and military personnel.

    PubMed

    Phaltankar, P M; Langdon, J; Clasper, J

    2003-12-01

    We describe three cases of undiagnosed Poland's syndrome in Army personnel and discuss their fitness according to the PULHHEEMS system. This syndrome has variable clinical features that include unilateral chest wall and upper limb abnormalities. The syndrome is not hereditary and is of unknown origin. If the syndrome was diagnosed prior to enlistment the potential recruit would normally be graded P8, and unfit to enlist. However, these individuals had managed to pass routine medical examination as well as successfully complete basic training. The suitability of continuation in the army of personnel with Poland's syndrome is discussed.

  13. [Clinical characteristics of Rett Syndrome].

    PubMed

    Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

    2011-10-01

    Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

  14. Bertolotti's syndrome: a case report.

    PubMed

    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  15. [Tall stature: some classical syndromes].

    PubMed

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

    2006-01-01

    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.

  16. Combined Alport syndrome and Klinefelter syndrome.

    PubMed

    Nishida, Masashi; Hashimoto, Fusako; Kaito, Hiroshi; Nozu, Kandai; Iijima, Kazumoto; Asada, Dai; Hamaoka, Kenji

    2016-02-01

    To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605-2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. © 2015 Japan Pediatric Society.

  17. Drug-Induced Hematologic Syndromes

    PubMed Central

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

    2009-01-01

    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. PMID:19960059

  18. Noonan syndrome - a new survey.

    PubMed

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

    2017-02-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

  19. The Syndrome of Catatonia

    PubMed Central

    Wilcox, James Allen; Reid Duffy, Pam

    2015-01-01

    Catatonia is a psychomotor syndrome which has historically been associated with schizophrenia. Many clinicians have thought that the prevalence of this condition has been decreasing over the past few decades. This review reminds clinicians that catatonia is not exclusively associated with schizophrenia, and is still common in clinical practice. Many cases are related to affective disorders or are of an idiopathic nature. The illusion of reduced prevalence has been due to evolving diagnostic systems that failed to capture catatonic syndromes. This systemic error has remained unchallenged, and potentiated by the failure to perform adequate neurological evaluations and catatonia screening exams on psychiatric patients. We find that current data supports catatonic syndromes are still common, often severe and of modern clinical importance. Effective treatment is relatively easy and can greatly reduce organ failure associated with prolonged psychomotor symptoms. Prompt identification and treatment can produce a robust improvement in most cases. The ongoing prevalence of this syndrome requires that psychiatrists recognize catatonia and its presentations, the range of associated etiologies, and the import of timely treatment. PMID:26690229

  20. [Cushing's syndrome during pregnancy].

    PubMed

    Lubin, Vanessa; Gautier, Jean-François; Antoine, Jean-Marie; Beressi, Jean-Paul; Vexiau, Patrick

    2002-11-09

    The rare association of Cushing's syndrome and pregnancy is explained by the amenorrhea and sterility inherent to the syndrome. In the literature, 125 cases have been reported: 30 cases of early diagnosis and 95 others diagnosed in the second half of pregnancy. When hypercorticism exists before pregnancy it is hardly secretory. Its diagnosis, at an early stage, is not hindered by the hormone modifications of pregnancy. Its aetiological treatment raises the problem of the compatibility in pursuing the latter. The positive and aetiological diagnoses of Cushing's syndrome are difficult and its prevalence may therefore be underestimated. The evocative clinical signs are unspecific: excessive weight gain, hypertension of pregnancy and gestational diabetes. The 24-hour free hypercortisoluria and the absence of dexamethasone inhibition are of little diagnostic value after the 14th week of amenorrhea. The positive diagnosis therefore relies essentially on the abolition of the circadian rhythm of cortisol. The biological hyperandrogenia commonly observed is not discriminating. Adrenal aetiologies are frequent. Imaging must be performed to eliminate an adrenocortical tumor. The maternal prognosis depends on the hypertension, preeclampsia, diabetes and the complications of Cushing's syndrome. It depends on the activity of the hypercorticism and its early aetiological treatment, which must not be delayed after pregnancy. The foetal prognosis depends on the maternal prognosis. It is represented by preterm delivery, hypotrophy and death of the foetus in utero. The therapeutic management must be symptomatic and aetiologic, maternal and obstetrical.

  1. Elbow Synovial Fold Syndrome

    DTIC Science & Technology

    2007-12-01

    inflammation are not present. In the first reported cases of this syndrome, diagnosis was made by arthroscopy after the patient had failed all non...osteoarthritis, and snapping triceps tendon. Lateral epicondylitis appears to be the leading mis-diagnosis before proper imaging or arthroscopy is

  2. Androgen insensitivity syndrome

    MedlinePlus

    ... the person has some or all of the physical traits of a woman, but the genetic makeup of a man. Causes AIS is caused by genetic defects on the X chromosome. These defects make the body unable to respond to the hormones that produce a male appearance. The syndrome is divided into two main categories: ...

  3. Prader-Willi syndrome

    MedlinePlus

    ... Committee on Genetics. Clinical report - health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127(1):195-204. PMID: 21187304 www.ncbi.nlm.nih.gov/pubmed/21187304 . Review Date 4/19/2016 Updated by: Neil K. ...

  4. Tourette Syndrome: Classroom Implications

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  5. The Tie retraction syndrome.

    PubMed

    Geerling, Gerd; Neppert, Birte; Hemmant, Bridget

    2012-12-01

    Tissue retraction is implicated in the pathogenesis of various ophthalmic disorders. Here we describe the clinical characteristics, epidemiology and pathophysiology of a form of retraction syndrome which - to the best of our knowledge - has not been reported in the ophthalmic literature so far. We have termed this condition - consisting of a slowly progressive pseudovertical shortening of tie length due to a horizontal extension of girth length - the "Tie retraction syndrome" (TRS). Other pathognomonic features include an increased tie tip to belt buckle distance and a prolapse of the subumbilical fat pad (SUFP). The syndrome has a clear male to female preponderance and shows an increasing incidence with age and income before tax. Based on a newly proposed grading scheme we discuss and illustrate the diagnosis as well as the medical and surgical management options of this abundant, but often undiagnosed condition. The authors have no explanation for the apparent lack of awareness for this widely preponderant syndrome and its severe cosmetically disfiguring potential. We thus would like to invite all fellow colleagues with expertise in the field to comment or present their views.

  6. Annotation: The Savant Syndrome

    ERIC Educational Resources Information Center

    Heaton, Pamela; Wallace, Gregory L.

    2004-01-01

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

  7. Update: Toxic Shock Syndrome.

    ERIC Educational Resources Information Center

    Price, James H.

    1981-01-01

    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)

  8. Dry eye syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000426.htm Dry eye syndrome To use the sharing features on this page, ... second-hand smoke exposure Cold or allergy medicines Dry eye can also be caused by: Heat or ... Symptoms may include: Blurred vision Burning, itching, ...

  9. Dravet Syndrome History

    ERIC Educational Resources Information Center

    Dravet, Charlotte

    2011-01-01

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

  10. [Korsakoff amnesia syndrome].

    PubMed

    Verstichel, P

    2000-10-14

    PATHOLOGY CORRELATIONS: The Korsakoff syndrome results from cerebral lesions due to thiamine depletion, usually of alcoholic etiology. Other nutritional, or genetic factors, could be implicated. Exceptionally, it results from thalamic disease or a tumor of the third ventricle floor. Anterograde and retrograde aspects of episodic memory are principally impaired, contrasting with the preservation of semantic and procedural memory. Opposition between explicit (impaired) and implicit (unimpaired) memory is one of the main cognitive features of this syndrome. Several cerebral structures, components of various memory systems, are simultaneously damaged. Critical lesion sites for anterograde amnesia involve the memillary bodies, the mamillotalamic tract and the anterior thalamus. Retrograde amnesia is dependent on function abnormalities of a circuit between the dorso-median thalamus and the prefrontal cortex. Impairment of retrieval and chronological disorganization of memories contribute to this extensive retrograde amnesia, probably because of frontal dysfunction. Confabulations and false recognitions are produced in the initial stage of the disease. They are, in the same way, interpreted as the consequence of frontal desafferentation due to dorso-median thalamus damage. The impact of diencephalic destruction on the frontal lobes is evidenced clinically by behavioral changes and dysexecutive syndrome. Neuroimaging studies of the brain show a decreased regional metabolic ration in the frontal areas. Korsakoff syndrome is a serious disorder, responsible for cognitive handicap. There is no curative treatment. Preventive measures, consisting in systematic prescription of thiamine in alcoholics, is the main effective measure.

  11. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

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

  12. Gorlin-Goltz syndrome

    PubMed Central

    Şereflican, Betül; Tuman, Bengü; Şereflican, Murat; Halıcıoğlu, Sıddıka; Özyalvaçlı, Gülzade; Bayrak, Seval

    2017-01-01

    Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome. In this article, we present a 15-year-old boy who was admitted to our clinic with brown-black papules and plaques on his scalp and was thought to have Gorlin-Goltz syndrome. He had a history of medulloblastoma that was treated with surgical resection followed by cranial radiotherapy and unilateral retinoblastoma. We present this case, because association of Gorlin-Goltz syndrome and retinoblastoma has not been described previously in the literature and we aimed to draw attention to radiation-induced basal cell carcinomas. PMID:29062253

  13. Gorlin-Goltz syndrome.

    PubMed

    Şereflican, Betül; Tuman, Bengü; Şereflican, Murat; Halıcıoğlu, Sıddıka; Özyalvaçlı, Gülzade; Bayrak, Seval

    2017-09-01

    Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome. In this article, we present a 15-year-old boy who was admitted to our clinic with brown-black papules and plaques on his scalp and was thought to have Gorlin-Goltz syndrome. He had a history of medulloblastoma that was treated with surgical resection followed by cranial radiotherapy and unilateral retinoblastoma. We present this case, because association of Gorlin-Goltz syndrome and retinoblastoma has not been described previously in the literature and we aimed to draw attention to radiation-induced basal cell carcinomas.

  14. Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Kundert, Deborah King

    2008-01-01

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

  15. Anterior ankle impingement syndromes.

    PubMed

    Umans, Hilary R; Cerezal, Luiz

    2008-06-01

    Ankle impingement syndromes are painful conditions that may complicate ankle trauma and are characterized by chronic, progressive pain, swelling, and limitation of movement. These disorders are subclassified according to anatomical location about the tibiotalar joint. This article reviews the various forms of anterior ankle impingement, detailing the unique clinical features, anatomical considerations, pathoetiology, and imaging findings for each.

  16. Syndrome in question.

    PubMed

    Wu, Yinhua; Qiao, Jianjun; Fang, Hong

    2014-01-01

    Vulvovaginal-gingival syndrome is characterized by erosions and desquamation of the vulva, vagina, and gingiva. We reported a case of a 32-year-old woman presenting with an 8-year history of damage to the vulval and perianal anatomy and limitation of mouth opening. The patient's symptoms were relieved after treatment with topical tacrolimus cream.

  17. Syndrome in question*

    PubMed Central

    Wu, Yinhua; Qiao, Jianjun; Fang, Hong

    2014-01-01

    Vulvovaginal-gingival syndrome is characterized by erosions and desquamation of the vulva, vagina, and gingiva. We reported a case of a 32-year-old woman presenting with an 8-year history of damage to the vulval and perianal anatomy and limitation of mouth opening. The patient's symptoms were relieved after treatment with topical tacrolimus cream. PMID:25184936

  18. Modelling Down Syndrome

    ERIC Educational Resources Information Center

    Buckley, Frank

    2008-01-01

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

  19. [About the Cotard's syndrome].

    PubMed

    Nagy, Agnes; Vörös, Viktor; Tényi, Tamás

    2008-10-01

    INTRODUCTION, AIMS: The authors present the Cotard's syndrome, a rare psychiatric condition, pointing out the latest results in terms of etiology and psychoneurology. The central feature of the syndrome is a nihilistic delusion, in which the patient denies his or her own existence and that of the external world. We searched electronic databases using the appropriate search terms, relevant articles were carefully reviewed. We present three cases from our clinical practice. After the overview of the latest biological and neuropsychological findings, the historical aspects of the condition, the terminology, the nosology, the classification, the differential diagnostics and the etiology are discussed. The psychopathology and the phenomenology of Cotard's syndrome are also presented, shedding light on existential aspects as well. To sum up with useful information for the clinical practice, the possible treatment strategies, the course and the prognosis of the disease are also discussed. The presented theoretical and practical aspects give a lead on deeper understanding, easier recognition and more adequate therapy of the Cotard's syndrome.

  20. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  1. Eponymous Psychiatric Syndromes Revisited.

    PubMed

    Naguy, Ahmed

    2018-02-22

    This report provides an anthology of psychiatric eponyms. Clinically, many of these described syndromes represent valid diagnostic constructs and may accommodate the atypical cases that defy the official diagnostic designation in the current classificatory systems in psychiatry. © Copyright 2018 Physicians Postgraduate Press, Inc.

  2. Prune Belly Syndrome

    PubMed Central

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

    2011-01-01

    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. PMID:22606508

  3. Fragile X Syndrome

    ERIC Educational Resources Information Center

    Schwarte, Andrea R.

    2008-01-01

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

  4. Upper airway resistance syndrome.

    PubMed

    Montserrat, J M; Badia, J R

    1999-03-01

    This article reviews the clinical picture, diagnosis and management of the upper airway resistance syndrome (UARS). Presently, there is not enough data on key points like the frequency of UARS and the morbidity associated with this condition. Furthermore, the existence of LIARS as an independent sleep disorder and its relation with snoring and obstructive events is in debate. The diagnosis of UARS is still a controversial issue. The technical limitations of the classic approach to monitor airflow with thermistors and inductance plethysmography, as well as the lack of a precise definition of hypopnea, may have led to a misinterpretation of UARS as an independent diagnosis from the sleep apnea/hypopnea syndrome. The diagnosis of this syndrome can be missed using a conventional polysomnographic setting unless appropriate techniques are applied. The use of an esophageal balloon to monitor inspiratory effort is currently the gold standard. However, other sensitive methods such as the use of a pneumotachograph and, more recently, nasal cannula/pressure transducer systems or on-line monitoring of respiratory impedance with the forced oscillation technique may provide other interesting possibilities. Recognition and characterization of this subgroup of patients within sleep breathing disorders is important because they are symptomatic and may benefit from treatment. Management options to treat UARS comprise all those currently available for sleep apnea/hypopnea syndrome (SAHS). However, the subset of patients classically identified as LIARS that exhibit skeletal craneo-facial abnormalities might possibly obtain further benefit from maxillofacial surgery.

  5. Hemolytic-uremic syndrome

    MedlinePlus

    ... page, please enable JavaScript. Shiga-like toxin producing E coli hemolytic-uremic syndrome (STEC-HUS) is a disorder ... HUS) often occurs after a gastrointestinal infection with E coli bacteria ( Escherichia coli O157:H7). However, the condition ...

  6. Patellofemoral Pain Syndrome

    MedlinePlus

    ... But do this slowly, increasing the amount of time you do the sports activity a little at a time. Talk to ... 20 seconds. Do the exercise 6 to 10 times and then switch legs. Citations Management of Patellofemoral Pain Syndrome by S Dixit, M.D., ...

  7. Congenital nephrotic syndrome.

    PubMed

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  8. Cardiopulmonary Syndrome Overview

    MedlinePlus

    ... to Cancer Off-Label Drug Use Access to Experimental Drugs Complementary & Alternative Medicine (CAM) CAM for Patients ... pressure on the heart. Treatment may be to control the symptoms of ... vena cava syndrome (SVCS) is a group of signs and symptoms that occur when the ...

  9. The Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Umbreit, John; Ostrow, Lisa S.

    1980-01-01

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

  10. Fetal Alcohol Syndrome.

    ERIC Educational Resources Information Center

    Zerrer, Peggy

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

  11. [Posterior ankle impingement syndrome].

    PubMed

    Bojanić, Ivan; Janjić, Tamara; Dimnjaković, Damjan; Križan, Sanja; Smoljanović, Tomislav

    2015-01-01

    Posterior ankle impingement syndrome (PAIS) is a clinical syndrome characterized by posterior ankle pain which occurs in maximal forced plantar flexion of the foot. PAIS can be the result of an acute injury of the ankle, which is more often in general population, or it can be the result of the overuse syndrome, which is more often in athletes and ballet dancers. The etiology of PAIS may involve bony structures or soft tissue structures, or, more often, the combination of both. The diagnosis of PAIS is based on patient's clinical history and physical examination with the hyperplantarflexion test as a very important part of it. Physical examination should be completed with imaging techniques, which most often include magnetic resonance imaging (MRI) or computed tomography (CT) to confirm the diagnosis of PAIS. Conservative treatment is recommended as the primary treatment strategy. In those cases where 3 to 6 months of conservative treatment fails, open or, more often, arthroscopic/endoscopic surgery may be recommended. Nowadays, a 2-portal endoscopic approach introduced by van Dijk et al. in 2000 is the method of choice for the treatment of posterior ankle impingement syndrome.

  12. Symptoms and Diagnosis of Metabolic Syndrome

    MedlinePlus

    ... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  13. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  14. Down Syndrome - Genetics and Cardiogenetics.

    PubMed

    Plaiasu, Vasilica

    2017-09-01

    During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21. Prenatal and postnatal testing has become commonly used to diagnose different cases presenting the same pathology. Early clinical diagnosis is extremely important for patient prognosis. Lately, advances in Down syndrome research have been registered, but little is known about cardiovascular phenotype in Down syndrome. About half of patients with Down syndrome have congenital heart disease, and atrioventricular septal defects are the most common defects found. Basic research on Down syndrome is now rapidly accelerating, using new genomic technologies. There were many studies performed to identify a correlation between genotype and phenotype in Down syndrome.

  15. Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

    DTIC Science & Technology

    2016-09-01

    Syndrome of the Acute Radiation Syndrome PRINCIPAL...SUBTITLE 5a. CONTRACT NUMBER Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome 5b. GRANT NUMBER W81XWH-15...protective role against hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow

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

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

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

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

    PubMed

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

    2014-12-26

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

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

    PubMed

    Shah, D; Rasool, S

    2016-01-01

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

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

    PubMed

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

    2014-06-01

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

  20. Polycystic ovarian syndrome.

    PubMed

    Khan, Khurshid A; Stas, Sameer; Kurukulasuriya, L Romayne

    2006-01-01

    Polycystic ovarian syndrome (PCOS) is the most common reproductive endocrinopathy of women during their childbearing years. A significant degree of controversy exists regarding the etiology of this syndrome, but there is a growing consensus that the key features include insulin resistance, androgen excess, and abnormal gonadotropin dynamics. Familial and genetic factors cause predisposition to PCOS. Insulin resistance and adiposity put women with PCOS at a higher risk for diabetes, hypertension, dyslipidemia, and cardiovascular disease. Even though the adverse health consequences associated with PCOS are substantial, most women are not aware of these risks. Early recognition and treatment of metabolic sequelae should be the main focus of clinicians. Lifestyle modifications, mainly a balanced diet, weight loss, and regular exercise, are of utmost importance. On the pharmacologic front, various therapies including metformin, thiazolidinediones, and others appear to be very promising in the management of cardiometabolic aspects of PCOS.

  1. Polycystic ovarian syndrome.

    PubMed

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

    2013-01-01

    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.

  2. Hantavirus pulmonary syndrome.

    PubMed

    Macneil, Adam; Nichol, Stuart T; Spiropoulou, Christina F

    2011-12-01

    Hantavirus pulmonary syndrome (HPS) is a severe disease characterized by a rapid onset of pulmonary edema followed by respiratory failure and cardiogenic shock. The HPS associated viruses are members of the genus Hantavirus, family Bunyaviridae. Hantaviruses have a worldwide distribution and are broadly split into the New World hantaviruses, which includes those causing HPS, and the Old World hantaviruses [including the prototype Hantaan virus (HTNV)], which are associated with a different disease, hemorrhagic fever with renal syndrome (HFRS). Sin Nombre virus (SNV) and Andes virus (ANDV) are the most common causes of HPS in North and South America, respectively. Case fatality of HPS is approximately 40%. Pathogenic New World hantaviruses infect the lung microvascular endothelium without causing any virus induced cytopathic effect. However, virus infection results in microvascular leakage, which is the hallmark of HPS. This article briefly reviews the knowledge on HPS-associated hantaviruses accumulated since their discovery, less than 20 years ago. Published by Elsevier B.V.

  3. Stewart Treves Syndrome.

    PubMed

    Pereira, Elisangela Samartin Pegas; Moraes, Elisa Trino de; Siqueira, Daniela Melo; Santos, Marcel Alex Soares dos

    2015-01-01

    Stewart-Treves Syndrome is characterized by the presence of lymphangiosarcoma on limb extremities. Rare, it occurs in 0.5% of patients who have undergone radical mastectomy with axillary node dissection. The main cause is chronic lymphedema with endothelial and lymphatic differentiation, with no direct relationship to breast cancer. Seven years after a radical right-side mastectomy with lymph node dissection and adjuvant therapy, the patient developed a lesion on her right arm. The dermatological examination revealed an erythematous nodule with bleeding surface on chronic right forearm lymphedema. After the biopsy, a lymphangiosarcoma on chronic lymphedema was diagnosed. Infrequent, this syndrome is relevant because of its associated mortality. Early diagnosis is important to improve survival and reduce complications.

  4. Sticky eyelid syndrome.

    PubMed

    Kortvelesy, J Scott; Buerger, George F

    2004-11-01

    To report on patients seen with an unusual condition affecting the eyelids. The syndrome manifests as a temporary adhesion which forms between the upper and lower eyelid associated with laxity of the lower lid retractors. This results in a peculiar closure of the lids. Retrospective case reports. Charts of affected patients were reviewed for their clinical histories, examination findings, external photographs, and the results of treatment. Ten consecutive patients with the associated findings were reviewed. All cases were unilateral. Seven patients were Asian and three were Caucasian. Nine patients were symptomatic; of these, all were treated conservatively except for one who requested surgery. Two cases are described and photographs are shown. Lower eyelid retractor laxity combined with a temporary adhesion between the upper and lower lid results in the clinical findings of Sticky Eyelid Syndrome.

  5. [Microbiota and metabolic syndrome].

    PubMed

    Altuntaş, Yüksel; Batman, Adnan

    2017-04-01

    The role of gut bacteria in the pathogenesis and treatment of various diseases has been a focus of attention in the last 10 years. Prevalence of diabetes, obesity, and cardiovascular diseases continues to increase, in spite of technological developments and treatment alternatives. Microbial dysbiosis, described as the decrease of useful bacteria and the increase of harmful bacteria, has been associated with diabetes, obesity, atherosclerosis, and metabolic syndrome. In microbial dysbiosis, increase of harmful metabolites and changes to composition of bile acids occur via carbohydrate and protein fermentation. As a result, insulin resistance pathways are activated, which initiate the processes of obesity, diabetes, and atherosclerosis. Healthy diet recommendations, including prebiotic and probiotic foods and the use of probiotic agents, look promising for future treatment of metabolic syndrome and cardiovascular diseases.

  6. Hemophagocytic syndromes and infection.

    PubMed Central

    Fisman, D. N.

    2000-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues. HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linked with Epstein-Barr (EBV) virus infection. Hyperproduction of cytokines, including interferon-gamma and tumor necrosis factor-alpha, by EBV- infected T lymphocytes may play a role in the pathogenesis of HLH. EBV-associated HLH may mimic T-cell lymphoma and is treated with cytotoxic chemotherapy, while hemophagocytic syndromes associated with nonviral pathogens often respond to treatment of the underlying infection. PMID:11076718

  7. Chronic Exertional Compartment Syndrome.

    PubMed

    Braver, Richard T

    2016-04-01

    Increased tissue pressure within a fascial compartment may be the result from any increase in volume within its contents, or any decrease in size of the fascial covering or its distensibility. This may lead to symptoms of leg tightness, pain or numbness brought about by exercise. There are multiple differential diagnoses of exercise induced leg pain and the proper diagnoses of chronic exertional compartment syndrome (CECS) is made by a careful history and by exclusion of other maladies and confirmed by compartment syndrome testing as detailed in this text. Surgical fasciotomies for the anterior, lateral, superficial and deep posterior compartments are described in detail along with ancillary procedures for chronic shin splints that should allow the athlete to return to competitive activity. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Piriformis muscle syndrome.

    PubMed

    Kuncewicz, Elzbieta; Gajewska, Ewa; Sobieska, Magdalena; Samborski, Włodzimierz

    2006-01-01

    Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms.

  9. [Pathology of crush syndrome].

    PubMed

    Zimina, L N; Zvedina, M V; Musselius, S G; Vacina, T A

    1995-01-01

    Clinico-anatomical analysis of surgical material (32 cases) and 86 autopsy cases of myorenal syndrome (crush syndrome) is presented. Clinically in all cases there were symptoms of acute renal (hepatico-renal) failure which was a cause of death during the first 2 weeks. Septic complications were a cause of death at later periods. Grave alterations of traumatic, metabolic and septic origin were found in many organs in all cases. The sources of sepsis were decompressing longitudinal cuts and fasciotomies, shunts, lacerated wounds, catheters. Combined local treatment of wounds with sorbents, antibiotics, proteolytic enzymes, quantum therapy facilitated the destruction of bacteria and loss of their activity, wound purification and thus allowed coping with septic complications.

  10. [Leigh syndrome: case report].

    PubMed

    Roma, Adriano de Carvalho; Pereira, Paula Resende Aquino de Assis; Dantas, Adalmir Morterá

    2008-01-01

    The authors describe for the first time in the Country a case of a 10-year-old female child, assisted at the Ophthalmology Clinic of the Hospital Universitário Clementino Fraga Filho UFRJ, with Leigh's syndrome that is part of a metabolic disease group known as mitochondrial encephalomyopathies. It is an hereditary disease transmitted by a different mode of inheritance: mitochondrial, X-linked recessive and autosomal recessive. The beginning of clinical manifestations is varied and occurs usually in the first two years of life, with progressive and insidious evolution and exacerbation periods. Diagnosis is difficult because pleomorphic presentation, based on clinical findings and complementary study related to mitochondrial production of ATP and cytochrome c oxidase deficiencies. Considering that there is no specific treatment, this is based on a palliative procedure. So, the identification of this syndrome is very important to keep it under control, since its evolution is progressive.

  11. [Carpal tunnel syndrome treatment].

    PubMed

    De Angelis, Rossella; Salaffi, Fausto; Filippucci, Emilio; Grassi, Walter

    2006-01-01

    Carpal tunnel syndrome, the most common peripheral neuropathy, results from compression of the median nerve at the wrist, and is a cause of pain, numbness and tingling in the upper extremities and an increasingly recognized cause of work disability. If carpal tunnel syndrome seems likely, conservative management with splinting should be initiated. Moreover, it has suggested that patients reduce activities at home and work that exacerbate symptoms. Pyridoxine and diuretics, since are largely utilised, are no more effective than placebo in relieving the symptoms. Non steroidal anti-inflammatory drugs and orally administered corticosteroids can be effective for short-term management (two to four weeks), but local corticosteroid injection may improve symptoms for a longer period. Injection is especially effective if there is no loss of sensibility or thenar-muscle atrophy and weakness, and if symptoms are intermittent rather than constant. If symptoms are refractory to conservative measures, the option of surgical therapy may be considered.

  12. Alice in Wonderland syndrome

    PubMed Central

    2016-01-01

    Abstract Purpose of review: To summarize the literature on Alice in Wonderland syndrome (AIWS), a disorder characterized by distortions of visual perception, the body schema, and the experience of time. Recent findings: On the basis of 169 published case descriptions, the etiology of AIWS is divided into 8 main groups, with neurologic disorders affecting mostly adults and elderly patients and encephalitides affecting mostly patients aged ≤18 years. Symptoms of AIWS are also experienced in the general population, with up to 30% of adolescents reporting nonclinical symptoms. Summary: In clinical cases of AIWS, auxiliary investigations (including blood tests, EEG, and brain MRI) are strongly advised. Treatment should be directed at the suspected underlying condition, although reassurance that the symptoms themselves are not harmful seems to suffice in about 50% of the cases. International classifications such as the DSM and ICD should consider placing the syndrome on their research agenda. PMID:27347442

  13. [Visual diagnosis: Waardenburg syndrome].

    PubMed

    Hager, T; Walter, H-S; Seitz, B; Käsmann-Kellner, B

    2010-07-01

    Waardenburg syndrome (WS) is a rare disease characterized by a sensorineural hearing loss and pigment anomalies of the iris, skin and hair due to mutations in PAX3. WS can be subdivided into four groups according to major and minor clinical signs. We report the case of a 2 1/2-year-old coloured patient who presented in our department of paediatric ophthalmology for a syndrome search. The patient presented with hearing loss, brilliant blue iris colour and dystopia canthorum. The patient was slightly hypermetropic. Visual acuity was within normal limits according to the Cardiff acuity test. The ocular fundus examination revealed no abnormalities. According to the major and minor criteria defined by the Waardenburg consortium our patient showed the major criteria of WS1, i.e. hearing loss, hypopigmentation of the pigment epithelium of the iris and dystopic canthi. Diagnosis of WS is usually based on the clinical presentation. An additional molecular genetic analysis is possible.

  14. Postconcussion Syndrome: A Review.

    PubMed

    Barlow, Karen M

    2016-01-01

    Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. © The Author(s) 2014.

  15. Metabolic Syndrome, Androgens, and Hypertension

    PubMed Central

    Moulana, Mohadetheh; Lima, Roberta; Reckelhoff, Jane F.

    2013-01-01

    Obesity is one of the constellation of factors that make up the definition of the metabolic syndrome. Metabolic syndrome is also associated with insulin resistance, dyslipidemia, hypertriglyceridemia, and type 2 diabetes mellitus. The presence of obesity and metabolic syndrome in men and women is also associated with increased risk of cardiovascular disease and hypertension. In men, obesity and metabolic syndrome are associated with reductions in testosterone levels. In women, obesity and metabolic syndrome is associated with increases in androgen levels. In men reductions in androgen levels is associated with inflammation. Androgen supplements reduce inflammation in men. In women, increases in androgens are associated with increases in inflammatory cytokines, and reducing androgens reduces inflammation. In this review the possibility that androgens may have different effects on metabolic syndrome and its sequelae in males and females will be discussed. PMID:21274756

  16. Glomeruloid hemangioma and POEMS syndrome.

    PubMed

    Hernández Aragüés, I; Pulido Pérez, A; Ciudad Blanco, C; Parra Blanco, V; Suárez Fernández, R

    2017-03-01

    POEMS syndrome is a paraneoplastic manifestation associated with hematopoietic disorders such as multiple myeloma and Castleman disease. POEMS is an acronym for the main clinical features of the syndrome, namely, Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin abnormalities. Glomeruloid hemangiomas are considered to be a specific clinical marker of POEMS syndrome. However, while they are not pathognomonic, their presence should raise suspicion of this syndrome or alert clinicians to its possible future development, as these lesions can appear years before the onset of the syndrome. We report the cases of 2 women with plasma cell dyscrasias and sudden onset of lesions with a vascular appearance and histologic findings consistent with glomeruloid hemangioma. Recognition of this vascular tumor is important for the early diagnosis of POEMS syndrome. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Velo-Cardio-Facial Syndrome

    PubMed Central

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

    2010-01-01

    Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research. PMID:20111667

  18. Laugier-Hunziker-Baran syndrome.

    PubMed

    Yago, Kaori; Tanaka, Yoichi; Asanami, Soichiro

    2008-08-01

    Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder which has no relevance to internal disorders and has no familial association. There are few reports on histopathologic studies of this syndrome concerning Japanese individuals. The differential diagnosis of oral and pigmented lesions between Laugier-Hunziker-Baran syndrome and other disorders, Peutz-Jeghers syndrome in particular, requires our utmost consideration. Biopsy specimens of 2 cases were taken from pigmented maculae on the lower lips, buccal mucosa, tongue, and palate. Similar histopathologic findings were observed for all locations. The histopathologic examination showed that there was an accumulation of melanin in the basal layer as well as an increase in the number of melanophages in the subepithelial area. Oral scientists and clinicians must be familiar with Laugier-Hunziker-Baran syndrome, because this syndrome is probably more common than is generally recognized.

  19. [Organic brain syndrome].

    PubMed

    Hojaij, C R

    1984-12-01

    Organic Brain Syndrome (OBS) is an expression finding in the Diagnostic and Statistical Manual of Mental Disorders belonging to the great chapter of Organic Mental Disorders. With this meaning, it has been used in psychiatric centers outside the United States. Beginning with a lecture of the major aspects of the OBS, a critical revision is formulated under methodological and conceptual views of psychopathology. For that, classic authors are revised from Bonhoeffer to Weitbrecht.

  20. Tay's syndrome: MRI.

    PubMed

    Porto, L; Weis, R; Schulz, C; Reichel, P; Lanfermann, H; Zanella, F E

    2000-11-01

    Tay's syndrome is a trichothiodystrophy associated with congenital ichthyosis. We report the findings on MRI and spectroscopy in a young girl with sparse, short, ruffled hair, dry skin and delayed milestones. T2-weighted images showed prominent diffuse confluent increase in signal symmetrically in all the supratentorial white matter. These findings are similar to those in a previously described case, and consistent with dysmyelination. Spectroscopy showed increased myoinositol and decreased choline.

  1. Macrophage Activation Syndrome.

    PubMed

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

    2015-10-01

    Macrophage activation syndrome (MAS) is a potentially life-threatening complication of rheumatic disorders that occurs most commonly in systemic juvenile idiopathic arthritis. In recent years, there have been several advances in the understanding of the pathophysiology of MAS. Furthermore, new classification criteria have been developed. Although the place of cytokine blockers in the management of MAS is still unclear, interleukin-1 inhibitors represent a promising adjunctive therapy, particularly in refractory cases. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Pregnancy and Marfan syndrome

    PubMed Central

    Goland, Sorel

    2017-01-01

    Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration. The leading cause of morbidity and mortality in MFS is aortic dissection. This article presents an extensive review of available clinical information and provides recommendations for the management of patients with MFS during pregnancy. PMID:29270376

  3. Ectodermal dysplasia (ED) syndrome.

    PubMed

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  4. Hereditary Gastrointestinal Cancer Syndromes

    PubMed Central

    Lynch, Jane F.; Shaw, Trudy G.

    2011-01-01

    ABSTRACT The rapid growth of molecular genetics and its attendant germline mutation discoveries has enabled identification of persons who are at an inordinately high cancer risk and, therefore, ideal candidates for prevention. However, one must fully appreciate the extensive genotypic and phenotypic heterogeneity that exists in hereditary cancer. Once the causative germline mutation has been identified in a patient, high-risk members of the family can be similarly tested and identified and provided highly targeted surveillance and management opportunities. DNA testing can change the individual's presumed risk status and affect decision making by patients and their physicians regarding surveillance and management. Our purpose is to describe familial/hereditary cancers of the gastrointestinal tract, including familial Barrett's esophagus, hereditary diffuse gastric cancer, gastrointestinal stromal tumors, familial adenomatous polyposis and desmoid tumors, Lynch syndrome, small bowel cancer, and familial pancreatic cancer. We use our discussion of Lynch syndrome as a model for diagnostic and clinical translation strategies for all hereditary gastrointestinal tract cancers, which clearly can then be extended to cancer of all anatomic sites. Highly pertinent questions from the patient's perspective include the following: What kind of counseling will be provided to a patient with a Lynch syndrome mutation, and should that counseling be mandatory? Does the proband have the responsibility to inform relatives about the familial mutation, even if the relatives do not want to know whether they carry it? Is the patient is responsible for notifying family members that a parent or sibling has Lynch syndrome? Can notification be forced and, if so, under what circumstances? These questions point out the need for criteria regarding which family members to inform and how to inform them. PMID:22368732

  5. [Management of myelodysplastic syndromes].

    PubMed

    Duchmann, Matthieu; Fenaux, Pierre; Cluzeau, Thomas

    2015-11-01

    Myelodysplastic syndromes are heterogeneous diseases whose molecular characteristics have only been identified in recent years. Better identification of prognostic factors, larger access to allogeneic stem cell transplantation and the advent of new drugs notably hypomethylating agents (azacitidine, decitabine) and lenalidomide have improved patient outcome. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  6. The exploding head syndrome.

    PubMed

    Green, M W

    2001-06-01

    This article reviews the features of an uncommon malady termed "the exploding head syndrome." Sufferers describe terrorizing attacks of a painless explosion within their head. Attacks tend to occur at the onset of sleep. The etiology of attacks is unknown, although they are considered to be benign. Treatment with clomipramine has been suggested, although most sufferers require only reassurance that the spells are benign in nature.

  7. TAFRO syndrome: current perspectives.

    PubMed

    Sakashita, Kentaro; Murata, Kengo; Takamori, Mikio

    2018-01-01

    Multicentric Castleman's disease (MCD), a distinct subtype of Castleman's disease, is a rare, nonneoplastic, lymphoproliferative disorder. Patients with MCD present with systemic symptoms and multiple lymphadenopathy. Lymph node biopsy is necessary for the diagnosis of various histological MCD patterns including hyaline vascular, plasma cell, and mixed types. Human herpesvirus 8 (HHV8) infection was identified as an important etiology of MCD among immunocompromised patients such as those positive for human immunodeficiency virus. Although HHV8-negative MCD was reported in immunocompetent patients, the underlying etiology remains unknown. Several experts speculate that MCD in immunocompetent patients might be due to proinflammatory hypercytokinemia because of infection by a virus other than HHV8, inflammation, or neoplastic disease. In 2010, a distinct variant of HHV8-negative MCD reported in Japan was characterized by thrombocytopenia, anasarca, myelofibrosis, renal dysfunction, and organomegaly (TAFRO). Recent case reports and a systematic review suggest that TAFRO syndrome might have a unique pathogenesis among HHV8-negative MCD variants. This review introduces TAFRO syndrome as a subtype of HHV8-negative MCD and offers an overview of the current perspectives on this syndrome.

  8. [Polycystic ovary syndrome].

    PubMed

    Vrbíková, Jana

    2015-10-01

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

  9. Annotation: the savant syndrome.

    PubMed

    Heaton, Pamela; Wallace, Gregory L

    2004-07-01

    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. 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 impaired individuals who nevertheless display exceptional skills within specific domains. However, within the extant literature, cases of savants with developmental and other clinical disorders, but with average intellectual functioning, are increasingly reported. We thus propose that focus should diverge away from IQ scores to encompass discrepancies between functional impairments and unexpected skills. It has long been observed that savant skills are more prevalent in individuals with autism than in those with other disorders. Therefore, in this annotation we seek to explore the parameters of the savant syndrome by considering these skills within the context of neuropsychological accounts of autism. A striking finding amongst those with savant skills, but without the diagnosis of autism, is the presence of cognitive features and behavioural traits associated with the disorder. We thus conclude that autism (or autistic traits) and savant skills are inextricably linked and we should therefore look to autism in our quest to solve the puzzle of the savant syndrome. Copyright 2004 Association for Child Psychology and Psychiatry

  10. Obstetric antiphospholipid syndrome.

    PubMed

    Esteve-Valverde, E; Ferrer-Oliveras, R; Alijotas-Reig, J

    2016-04-01

    Obstetric antiphospholipid syndrome is an acquired autoimmune disorder that is associated with various obstetric complications and, in the absence of prior history of thrombosis, with the presence of antiphospholipid antibodies directed against other phospholipids, proteins called cofactors or PL-cofactor complexes. Although the obstetric complications have been related to the procoagulant properties of antiphospholipid antibodies, pathological studies of human placenta have shown the proinflammatory capacity of antiphospholipid antibodies via the complement system and proinflammatory cytokines. There is no general agreement on which antiphospholipid antibodies profile (laboratory) confers the greatest obstetric risk, but the best candidates are categories I and IIa. Combined treatment with low doses of aspirin and heparin achieves good obstetric and maternal outcomes. In this study, we also review the therapeutic possibilities in refractory cases, although the likelihood of progressing to other autoimmune diseases is low. We briefly comment on incomplete obstetric antiphospholipid syndrome, also known as antiphospholipid antibody-mediated pregnancy morbidity syndrome. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  11. Biochemistry of HELLP syndrome.

    PubMed

    Benedetto, Chiara; Marozio, Luca; Tancredi, Annalisa; Picardo, Elisa; Nardolillo, Paola; Tavella, Anna Maria; Salton, Loredana

    2011-01-01

    The HELLP syndrome is a serious complication of pregnancy characterized by hemolysis (H), elevated liver (EL) enzymes, and low platelet (LP) count that occurs in 0.2-0.6% of all pregnancies and in 10-20% of cases with severe preeclampsia and frequently leads to adverse maternal and perinatal outcome. The exact pathobiology of HELLP syndrome has not been clearly defined. As it is considered a form or a complication of severe preeclampsia, it likely has its origin in aberrant placental development and function resulting in ischemia-producing oxidative stress. However, there is still a debate on whether HELLP must be considered a severe form of preeclampsia or a separate disease entity. It can be described as a placenta-induced disease, as is preeclampsia itself, but with a more acute and predominant inflammatory process typically targeting the liver and with a greater activation of the coagulation system. This occurs during a disordered immunologic process and may be due to a genetic predisposition. In this review, we discuss the main biochemical characteristics of HELLP syndrome, particularly focusing on molecular aspects of placental involvement and maternal systemic responses.

  12. Metabolic cutis laxa syndromes.

    PubMed

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

    2011-08-01

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

  13. Psychosomatic syndromes and anorexia nervosa

    PubMed Central

    2013-01-01

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

  14. Simulator Adaptation Syndrome Literature Review

    DTIC Science & Technology

    2004-01-16

    SIMULATOR ADAPTATION SYNDROME LITERATURE REVIEW 1517 N. Main Street | Royal Oak, MI 48067 Tel...Simulator Adaptation Syndrome Literature Review 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e...describe simulator sickness as a syndrome because it has many complex contributing causes and manifests itself with many potential symptoms. A good

  15. [Antisynthetase syndrome without muscle involvement].

    PubMed

    Júdez Navarro, Enrique; Martínez Carretero, Myriam; Martínez Jiménez, Gonzalo Fidel

    2007-11-01

    Antisynthetase syndrome is a well defined syndrome characterized by the presence of interstitial lung disease in association with arthritis, miositis, mechanic's hands and Ruynaud's phenomenon in the presence of antisynthetase antibodies, especially Ac anti-Jo1. We described the case of a 68-year-old man with this syndrome in the absence of inflammatory muscle disease. Copyright © 2007 Elsevier España S.L Barcelona. Published by Elsevier Espana. All rights reserved.

  16. Unusual presentation of Klinefelter syndrome

    PubMed Central

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

    2013-01-01

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

  17. Recognizing and preventing refeeding syndrome.

    PubMed

    Adkins, Susan M

    2009-01-01

    Refeeding syndrome is an uncommon but potentially fatal phenomenon that can occur in patients receiving parenteral, enteral, or oral feedings after a period of sustained malnutrition or starvation. This syndrome is characterized by hypophosphatemia, hypokalemia, and hypomagnesemia. The purpose of this article was to bring an acute awareness of refeeding syndrome to the critical care nurse. The recognition, pathogenesis, clinical manifestations, potential life threatening complications, and treatment are presented.

  18. [Evans syndrome, pregnancy, and preeclampsia].

    PubMed

    Hernández-Salazar, E; Martínez-Abundis, C E; González-Ortiz, C M

    2001-02-01

    Evans' syndrome is an unusual illness of autoimmune etiology, characterized by thrombocytopenia and hemolytic anemia. This is more frequent in females throughout first half of the life and during pregnancy. The present paper describes two pregnant women with Evans syndrome associated to preeclampsia. This report emphasizes how the hematology and coagulation abnormalities of preeclampsia could be added to those abnormalities observed in Evans' syndrome. This association constitutes a severe disease of difficult treatment.

  19. What Are the Treatments for Cushing's Syndrome?

    MedlinePlus

    ... Pinterest Email Print What are the treatments for Cushing syndrome? Treatment for Cushing syndrome depends on the reason for the extra cortisol in the body. 1 , 2 Medicine If Cushing syndrome is caused by glucocorticoid medicine taken to treat ...

  20. What Are the Symptoms of Turner Syndrome?

    MedlinePlus

    ... Pinterest Email Print What are the symptoms of Turner syndrome? Turner syndrome causes a variety of symptoms in girls and ... some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women ...

  1. Genetics Home Reference: Saethre-Chotzen syndrome

    MedlinePlus

    ... Saethre-Chotzen syndrome Johns Hopkins Collaboration for Craniofacial Development and Disorders MalaCards: saethre-chotzen syndrome Orphanet: Saethre-Chotzen syndrome Seattle Children's Hospital and Regional Medical Center Patient Support and Advocacy Resources (4 ...

  2. Genetics Home Reference: uncombable hair syndrome

    MedlinePlus

    ... Twitter Home Health Conditions Uncombable hair syndrome Uncombable hair syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Uncombable hair syndrome is a condition that is characterized by ...

  3. Genetics Home Reference: isolated Duane retraction syndrome

    MedlinePlus

    ... Health Conditions Isolated Duane retraction syndrome Isolated Duane retraction syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Isolated Duane retraction syndrome is a disorder of eye movement. This ...

  4. Genetics Home Reference: Peters plus syndrome

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Peters plus syndrome Peters plus syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Peters plus syndrome is an inherited condition that is ...

  5. Genetics Home Reference: Dubin-Johnson syndrome

    MedlinePlus

    ... Twitter Home Health Conditions Dubin-Johnson syndrome Dubin-Johnson syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dubin-Johnson syndrome is a condition characterized by jaundice, which ...

  6. Genetics Home Reference: triple X syndrome

    MedlinePlus

    ... Twitter Home Health Conditions Triple X syndrome Triple X syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Triple X syndrome , also called trisomy X or 47,XXX, ...

  7. Genetics Home Reference: Kaufman oculocerebrofacial syndrome

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Kaufman oculocerebrofacial syndrome Kaufman oculocerebrofacial syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Kaufman oculocerebrofacial syndrome is a disorder characterized by eye ...

  8. Genetics Home Reference: Russell-Silver syndrome

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Russell-Silver syndrome Russell-Silver syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Russell-Silver syndrome is a growth disorder characterized by ...

  9. Metabolic syndrome in young people.

    PubMed

    Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza

    2014-02-01

    The prevalence of obesity is on the increase, and consequently metabolic syndrome is also becoming a serious health problem in children and adolescents all over the world. This review attempts to summarize the recent literature on metabolic syndrome in children and adolescents. To date, a standard definition of metabolic syndrome for the pediatric population is not available. Recently, the International Diabetes Federation has proposed a new set of criteria to define metabolic syndrome in children and adolescents aged 6-16 years. The relationships between obesity, insulin resistance and metabolic syndrome may be explained by the pattern of lipid partitioning. Fatty liver plays a central role in the insulin-resistant state in obese adolescents. Although insulin resistance has been proposed as the central factor leading to the abnormalities observed in metabolic syndrome, most definitions of metabolic syndrome use impaired fasting glucose as a marker. Nutrition impairment during both prenatal and early postnatal life can cause metabolic disturbances leading to insulin-resistance, type 2 diabetes, hypertension and cardiovascular disease. Metabolic syndrome prevalence in children and adolescents is on the increase. Therefore, the emphasis in all studies and programs related to metabolic syndrome should be focused on prevention, early detection of metabolic risk factors and interventions that will have a significant impact on future adult health.

  10. "Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

    PubMed

    D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

    2011-01-01

    Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

  11. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    ... spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point downward ... cardiofaciocutaneous syndrome . Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms ...

  12. [Prevention of the refeeding syndrome].

    PubMed

    Martínez Núñez, Maria E; Hernández Muniesa, B

    2010-01-01

    The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support.

  13. RAAS inhibition and cardiorenal syndrome.

    PubMed

    Onuigbo, Macaulay Amechi C

    2014-01-01

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

  14. Digital disruption ?syndromes.

    PubMed

    Sullivan, Clair; Staib, Andrew

    2017-05-18

    The digital transformation of hospitals in Australia is occurring rapidly in order to facilitate innovation and improve efficiency. Rapid transformation can cause temporary disruption of hospital workflows and staff as processes are adapted to the new digital workflows. The aim of this paper is to outline various types of digital disruption and some strategies for effective management. A large tertiary university hospital recently underwent a rapid, successful roll-out of an integrated electronic medical record (EMR). We observed this transformation and propose several digital disruption "syndromes" to assist with understanding and management during digital transformation: digital deceleration, digital transparency, digital hypervigilance, data discordance, digital churn and post-digital 'depression'. These 'syndromes' are defined and discussed in detail. Successful management of this temporary digital disruption is important to ensure a successful transition to a digital platform. What is known about this topic? Digital disruption is defined as the changes facilitated by digital technologies that occur at a pace and magnitude that disrupt established ways of value creation, social interactions, doing business and more generally our thinking. Increasing numbers of Australian hospitals are implementing digital solutions to replace traditional paper-based systems for patient care in order to create opportunities for improved care and efficiencies. Such large scale change has the potential to create transient disruption to workflows and staff. Managing this temporary disruption effectively is an important factor in the successful implementation of an EMR. What does this paper add? A large tertiary university hospital recently underwent a successful rapid roll-out of an integrated electronic medical record (EMR) to become Australia's largest digital hospital over a 3-week period. We observed and assisted with the management of several cultural, behavioural and

  15. The trisomy 18 syndrome

    PubMed Central

    2012-01-01

    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. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common

  16. Hyperventilation and exhaustion syndrome.

    PubMed

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

    2014-12-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called 'Grounding', a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients' average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = -3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = -0.514, p < 0.01), pain (r = -.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = -0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R(2) = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy

  17. Hyperventilation and exhaustion syndrome

    PubMed Central

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

    2014-01-01

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

  18. The Capgras syndrome in paranoid schizophrenia.

    PubMed

    Silva, J A; Leong, G B

    1992-01-01

    Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

  19. Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

    PubMed

    Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

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

    SciTech Connect

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

    1994-11-01

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