Sample records for aarskog-scott syndrome clinical

  1. Genetics Home Reference: Aarskog-Scott syndrome

    MedlinePlus

    ... parts of the body. This condition mainly affects males, although females may have mild features of the ... the roof of the mouth ( cleft palate ). Most males with Aarskog-Scott syndrome have a shawl scrotum, ...

  2. 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 ...

  3. Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.

    PubMed

    Pérez-Coria, Mariana; Lugo-Trampe, José J; Zamudio-Osuna, Michell; Rodríguez-Sánchez, Iram P; Lugo-Trampe, Angel; de la Fuente-Cortez, Beatriz; Campos-Acevedo, Luis D; Martínez-de-Villarreal, Laura E

    2015-05-01

    Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different mutations identified to date. We present the clinical and molecular analysis of four unrelated families of Mexican origin with an AAS phenotype, in whom FGD1 sequencing was performed. This analysis identified two stop mutations not previously reported in the literature: p.Gln664* and p.Glu380*. Phenotypically, every male patient met the clinical criteria of the syndrome, whereas discrepancies were found between phenotypes in female patients. Our results identify two novel mutations in FGD1, broadening the spectrum of reported mutations; and provide further delineation of the phenotypic variability previously described in AAS.

  4. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

    PubMed

    Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V

    2010-02-01

    Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed. Copyright 2010 Wiley-Liss, Inc.

  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. Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

    PubMed Central

    Pérez-Coria, Mariana; Lugo-Trampe, José J; Zamudio-Osuna, Michell; Rodríguez-Sánchez, Iram P; Lugo-Trampe, Angel; de la Fuente-Cortez, Beatriz; Campos-Acevedo, Luis D; Martínez-de-Villarreal, Laura E

    2015-01-01

    Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different mutations identified to date. We present the clinical and molecular analysis of four unrelated families of Mexican origin with an AAS phenotype, in whom FGD1 sequencing was performed. This analysis identified two stop mutations not previously reported in the literature: p.Gln664* and p.Glu380*. Phenotypically, every male patient met the clinical criteria of the syndrome, whereas discrepancies were found between phenotypes in female patients. Our results identify two novel mutations in FGD1, broadening the spectrum of reported mutations; and provide further delineation of the phenotypic variability previously described in AAS. PMID:26029706

  7. Scott Wilde | NREL

    Science.gov Websites

    Wilde Scott Wilde NWTC Research Operations Manager Scott.Wilde@nrel.gov | 303-384-7074 Scott began the NWTC. He is now the Technical Operations Manager at the NWTC. Scott has worked as a supervisor in led large crews on hoisting and rigging activities and operations and maintenance activities. Scott

  8. Velo-facio-skeletal syndrome in a mother and daughter

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Teebi, A.S.; Meyn, M.S.; Meyers-Seifer, C.H.

    We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality are reminiscent to those in the velo-cardio-facial syndrome. High resolution banding and fluorescent in situ hybridization studiesmore » showed no evidence of 22q11 deletions. Differentiation from Aarskog syndrome and Robinow syndrome is discussed. 9 refs., 5 figs., 3 tabs.« less

  9. Scott Dana | NREL

    Science.gov Websites

    Dana Scott Dana Mechanical and Vibrations Engineer Scott.Dana@nrel.gov | 303-384-7036 Scott focuses on field testing of wind turbines and components for mechanical loads and power performance structural health monitoring using dynamic-based sensing methods. Education B.S. and M.S. in Mechanical

  10. George Scott | NREL

    Science.gov Websites

    George Scott George Scott Researcher IV-Software Engineering George.Scott@nrel.gov | 303-384-6903 Orcid ID http://orcid.org/0000-0002-7983-3050 George joined NREL (then SERI) in 1985. He specializes in turbines and wind plants. Before joining NREL, George was a research geophysicist with Superior Oil in

  11. Scott Nicholson | NREL

    Science.gov Websites

    Nicholson Photo of Scott Nicholson Scott Nicholson Researcher I-Chemical Engineering through Industry (MFI) tool Education B.S. in chemical engineering with a minor in economics, Tufts Affiliations American Institute of Chemical Engineers

  12. David Scott

    NASA Technical Reports Server (NTRS)

    1975-01-01

    Dr. David R. Scott was appointed Director of NASA's Flight Research Center on April 18, 1975. From August 1973 he served as Deputy Director of FRC and was appointed acting director in January 1975. He is retired from the U.S. Air Force where he held the rank of Colonel. Dave left the NASA Dryden Flight Research Center on October 30, 1977 after the Center had been renamed in honor of Hugh L. Dryden. As a NASA astronaut, Scott flew on Gemini 8, Apollo 9 and was spacecraft commander of Apollo 15. When he left the astronaut corps in 1972, Scott was named Technical Assistant to the Apollo Program Manager at Johnson Space Center in Houston. Later he served as Special Assistant for Mission Operations and Government Funded Equipment. Dave earned a Bachelor of Science Degree from the United States Military Academy in 1954, standing fifth in a class of 633, and the degrees of Bachelor and Master of Science in Aeronautics and Astronautics from the Massachusetts Institute of Technology (MIT) in 1962. He was awarded an Honorary Doctorate of Astronautical Science from the University of Michigan in 1971. Dave has graduated from the Air Force Experimental Test Pilot School and Aerospace Research Pilot School. He has over 5,600 hours flying time along with 20 hours of extra vehicular activity (EVA) time. Dr. Scott is a Fellow of the American Astronautical Society; Associate Fellow of the American Institute of Aeronautics and Astronautics; a member of the Society of Experimental Test Pilots, Tau Beta Pi, Sigma Xi, and Sigma Gamma Tau. Among Dr. Scott's special honors are two NASA Distinguished Service Medals, the NASA Exceptional Service Medal, two Air Force Distinguished Service Medals, the Air Force Distinguished Flying Cross, the Air Force Association's David C. Schilling Trophy, and the Robert J. Collier Trophy for 1971.

  13. Scott Murphy, MD: platelet storage pioneer.

    PubMed

    Vassallo, Ralph

    2011-04-01

    Dr Scott Murphy was a leading authority in the science of platelet storage for transfusion. Among the first to advocate room-temperature storage, his work enabled the extension of platelet shelf life, which facilitated the development of aggressive medical and surgical therapies requiring intensive platelet support. During a 38-year career, he characterized the metabolism of stored platelets, worked to optimize storage conditions, and developed a landmark standard for the assessment of platelet quality. As a clinical hematologist, he was devoted to his patients, providing compassionate, comforting care. He was also a cherished mentor, a sage advisor, a fast friend, and a dedicated family man. Dr Murphy was one of those rare, great, humble men who inspire and enrich everyone around him. Truly one of transfusion medicine's leaders, Scott is remembered by those whose lives he touched for his warmth, wit, and wisdom. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Astronaut Moments: Scott Tingle: Inspiration

    NASA Image and Video Library

    2017-12-14

    NASA Astronaut Scott Tingle shares his inspiration for his career as an astronaut. On Sunday, Dec. 17, 2017, Tingle will launch to the International Space Station aboard a Soyuz vehicle at 2:21 a.m. ET (1:21 p.m. Baikonur time) from the Baikonur Cosmodrome in Kazakhstan. This will be his first spaceflight. More on Tingle: https://www.nasa.gov/astronauts/biographies/scott-d-tingle More on the space station: www.nasa.gov/station Archive.org: https://archive.org/details/jsc2017m0009_ScottTingle_AstronautMoment_Inspriation_MXF Youtube: https://youtu.be/8xUOqk2f3vg

  15. Astronaut Moment: Scott Tingle: Guitarist

    NASA Image and Video Library

    2018-01-24

    Description: Before becoming an astronaut, Scott Tingle was in a rock band. He shares his story and how being in a band relates to his training as a NASA astronaut. Tingle is currently living and working aboard the International Space Station. More on Tingle: https://www.nasa.gov/astronauts/biographies/scott-d-tingle More on the space station: https://www.nasa.gov/mission_pages/station/main/index.html

  16. Scott: an 11-year-old boy with repetitive lying.

    PubMed

    Wells, Robert D; Bruns, Bryan; Wender, Esther H; Stein, Martin T

    2010-04-01

    Scott, an 11-year-old boy in the fifth grade, is brought to his pediatrician, Dr. Lewis, by his maternal grandparents with the principle concern that "he lies constantly." Scott lived with his maternal grandparents since he was 2 years old, and they have full custody. His mother and father had serious substance abuse problems. The grandparents provide a stable home for Scott and his 15-year-old sister. Scott has had no contact with his mother in more than 6 years and sees his father infrequently. During the last visit with his father, he was so inebriated that he was thrown out of the movie theatre and barely avoided several car accidents on the way home. He left the children at the curb of their home and made them promise that they would lie to their grandparents about the reasons for the early return. Scott was diagnosed with attention-deficit hyperactivity disorder (ADHD) in second grade. Methylphenidate (36 mg) provides improvement in attention and concentration. His grandfather describes Scott as highly unpredictable. When he is the "good Jake," he is eager to help, polite, and caring. When Scott gets behind in school or is avoiding his chores and assignments, he lies by saying that he got it all done, even though he knows his grandfather will discover the lie and punish him. When confronted with reports from school, Scott often lies and may develop more elaborate confabulatory stories. His grandfather admits that he becomes irate at these moments. He responds by removing Scott's privileges. When he planned to take Scott to see his favorite sport team in the playoffs, Scott was caught in a lie the day of his departure. His grandfather offered him a chance to fess up, pay a small price in extra chores, and save the trip. Scott stubbornly refused to admit that he lied and lost the trip. His grandfather worries that Scott has no "moral compass." He takes things that do not belong to him and violates household curfew rules. He has never been physically aggressive

  17. STS-87 Mission Specialist Scott in white room

    NASA Technical Reports Server (NTRS)

    1997-01-01

    STS-87 Mission Specialist Winston Scott is assisted with his ascent and re-entry flight suit in the white room at Launch Pad 39B by Danny Wyatt, NASA quality assurance specialist. STS-87 is the fourth flight of the United States Microgravity Payload and Spartan-201. Scott is scheduled to perform an extravehicular activity spacewalk with Mission Specialist Takao Doi, Ph.D., of the National Space Development Agency of Japan, during STS-87. Scott also performed a spacewalk on the STS-72 mission.

  18. ASK Talks with W. Scott Cameron

    NASA Technical Reports Server (NTRS)

    Cameron, W. Scott

    2002-01-01

    This paper presents an interview with Scott Cameron who is the Capital Systems Manager for the Food and Beverage Global Business Unit of Procter and Gamble. He has been managing capital projects and mentoring other project managers for the past 20 years at Procter and Gamble within its Beauty Care, Health Care, Food and Beverage, and Fabric and Home Care Businesses. Scott also has been an Academy Sharing Knowledge (ASK) feature writer since Volume One.

  19. Knudsen effects in a Scott effect experiment.

    NASA Technical Reports Server (NTRS)

    Wells, C. W.; Wood, L. T.; Hildebrandt, A. F.

    1973-01-01

    A thermal torque sometimes observed in Scott effect measurements has been studied experimentally and an explanation for the thermal torque proposed. The magnitude of the thermal torque can be comparable to the Scott torque depending on geometrical and thermal anisotropies. The thermal torque is predicted to decrease with application of an axial magnetic field.

  20. Identification of genes involved in Ca2+ ionophore A23187-mediated apoptosis and demonstration of a high susceptibility for transcriptional repression of cell cycle genes in B lymphoblasts from a patient with Scott syndrome

    PubMed Central

    Kozian, Detlef; Proulle, Valérie; Nitsche, Almut; Galitzine, Marie; Martinez, Marie-Carmen; Schumann, Beatrice; Meyer, Dominique; Herrmann, Matthias; Freyssinet, Jean-Marie; Kerbiriou-Nabias, Danièle

    2005-01-01

    Background In contrast to other agents able to induce apoptosis of cultured cells, Ca2+ ionophore A23187 was shown to elicit direct activation of intracellular signal(s). The phenotype of the cells derived from patients having the hemorrhagic disease Scott syndrome, is associated with an abnormally high proportion of apoptotic cells, both in basal culture medium and upon addition of low ionophore concentrations in long-term cultures. These features are presumably related to the mutation also responsible for the defective procoagulant plasma membrane remodeling. We analyzed the specific transcriptional re-programming induced by A23187 to get insights into the effect of this agent on gene expression and a defective gene regulation in Scott cells. Results The changes in gene expression upon 48 hours treatment with 200 nM A23187 were measured in Scott B lymphoblasts compared to B lymphoblasts derived from the patient's daughter or unrelated individuals using Affymetrix microarrays. In a similar manner in all of the B cell lines, results showed up-regulation of 55 genes, out of 12,000 represented sequences, involved in various pathways of the cell metabolism. In contrast, a group of 54 down-regulated genes, coding for histones and proteins involved in the cell cycle progression, was more significantly repressed in Scott B lymphoblasts than in the other cell lines. These data correlated with the alterations of the cell cycle phases in treated cells and suggested that the potent effect of A23187 in Scott B lymphoblasts may be the consequence of the underlying molecular defect. Conclusion The data illustrate that the ionophore A23187 exerts its pro-apoptotic effect by promoting a complex pattern of genetic changes. These results also suggest that a subset of genes participating in various steps of the cell cycle progress can be transcriptionally regulated in a coordinated fashion. Furthermore, this research brings a new insight into the defect in cultured Scott B

  1. Generative complexity of Gray-Scott model

    NASA Astrophysics Data System (ADS)

    Adamatzky, Andrew

    2018-03-01

    In the Gray-Scott reaction-diffusion system one reactant is constantly fed in the system, another reactant is reproduced by consuming the supplied reactant and also converted to an inert product. The rate of feeding one reactant in the system and the rate of removing another reactant from the system determine configurations of concentration profiles: stripes, spots, waves. We calculate the generative complexity-a morphological complexity of concentration profiles grown from a point-wise perturbation of the medium-of the Gray-Scott system for a range of the feeding and removal rates. The morphological complexity is evaluated using Shannon entropy, Simpson diversity, approximation of Lempel-Ziv complexity, and expressivity (Shannon entropy divided by space-filling). We analyse behaviour of the systems with highest values of the generative morphological complexity and show that the Gray-Scott systems expressing highest levels of the complexity are composed of the wave-fragments (similar to wave-fragments in sub-excitable media) and travelling localisations (similar to quasi-dissipative solitons and gliders in Conway's Game of Life).

  2. The Pleasures and Lessons of Academic Mythbusting: An Interview with Scott Lilienfeld

    ERIC Educational Resources Information Center

    Zinn, Tracy E.

    2010-01-01

    Scott O. Lilienfeld is a professor of psychology at Emory University, in Atlanta, Georgia. Dr. Lilienfeld is founder and editor of the journal, "Scientific Review of Mental Health Practice," and is past president of the Society for a Science of Clinical Psychology. He has been a member of 11 journal editorial boards, including the…

  3. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

    PubMed Central

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  4. DefenseLink.mil - Special Report: Family Tradition: Scott Children Continue

    Science.gov Websites

    no longer being updated and may no longer be applicable as a result of changes in law, regulation and Army Capt. Andy Scott Soldier Finds Calling in Law Story Air Force Capt. Karoline Scott Airman Bucks

  5. On Scott-Phillips' General Account of Communication.

    PubMed

    Planer, Ronald J

    2017-12-01

    The purpose of this paper is to critically engage with a recent attempt by Thom Scott-Phillips to offer a general account of communication. As a general account, it is intended to apply equally well to both non-human and human interactions which are prima facie communicative in character. However, so far, Scott-Phillips has provided little detail regarding how his account is supposed to apply to the latter set of cases. After presenting what I take to be the most plausible way of filling in those details, I argue that his account would appear to be too narrow: it (minimally) fails to capture a range of human interactions which strike us as instances of communication. To wit, these are cases in which some but not all of the information an act is designed to convey to a reactor actually reaches that reactor. An alternative account incorporating Scott-Phillips' main insights is then sketched, and it is suggested that this account, or something like it, would accommodate the full range of non-human and human interactions that are intuitively communicative.

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

    PubMed

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

    2010-12-01

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

  7. Astronaut David Scott watching hammer and feather fall to lunar surface

    NASA Image and Video Library

    1971-08-02

    S71-43788 (2 Aug. 1971) --- Astronaut David R. Scott, Apollo 15 commander, watches a geological hammer and a feather hit the lunar surface simultaneously in a test of Galileo's law of motion concerning falling bodies, as seen in this color reproduction taken from a transmission made by the RCA color television camera mounted on the Lunar Roving Vehicle (LRV). Scott released the hammer from his right hand and the feather from his left at the same instant. Galileo (1564-1642) was the great Italian astronomer and physicist. This experiment occurred toward the end of the third and final lunar surface extravehicular activity (EVA) by astronauts Scott and James B. Irwin, lunar module pilot. While Scott and Irwin descended in the Lunar Module (LM) to explore the moon, astronaut Alfred M. Worden, command module pilot, remained in the Command and Service Modules (CSM) in lunar orbit.

  8. Scott Brothers Windows and Doors Information Sheet

    EPA Pesticide Factsheets

    Scott Brothers Windows and Doors (the Company) is located in Bridgeville, Pennsylvania. The settlement involves renovation activities conducted at property constructed prior to 1978, located in Pittsburgh, Pennsylvania.

  9. 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

  10. [The clinical phenomenology of Rett's syndrome].

    PubMed

    Calderón-González, R; Calderón-Sepulveda, R F; Treviño-Welsh, J

    1999-01-01

    The work was done to facilitate the clinical diagnosis and understanding of Rett syndrome (RS) by grouping the symptoms and signs in areas of neurological disfunction. This is a retrospective, longitudinal and observational study of 30 young females whose clinical manifestations were grouped using a modified Fitzgerald et al. scale for motor and behavior evaluation of patients with RS. All patients were videotaped at least during one or several appointments during their follow-up for a period of 1 to 10 years. All patients and videotapes were reviewed independently by the three authors. We followed the clinical diagnostic criteria of classic RS, and grouped the symptoms and signs in 12 groups of clinical phenomenology that represented specific areas of central or peripheral nervous system involvement: 1) dementia syndrome (fronto-temporo-parietal and limbic dysfunction); 2) extrapyramidal syndrome (basal ganglia dysfunction); 3) respiratory function disorders (brain stem reticular system disfunction); 4) sleep disorders (reticular system and limbic dysfunction); 5) epilepsy (cortico-subcortical paroxysmal bioelectrical dysfunction); 6) lower motor neuron syndrome (neuropathic dysfunction and/or peripheral neuropathy); 7) body growth retardation; 8) tonic-postural skeletal deformities; 9) deficit of pain sensation (nociceptive deficit); 10) pseudobulbar dysfunction; 11) autonomic dysfunction and 12) others (microcephaly and bruxism). In clinical practice, we recommend the use of this grouping of symptoms and signs because it makes facilities the clinical study, definition of areas of dysfunction and diagnosis of the patient with RS.

  11. Marfan Syndrome: A Clinical Update.

    PubMed

    Bitterman, Adam D; Sponseller, Paul D

    2017-09-01

    Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

  12. Secondary Dystonia-Clinical Clues and Syndromic Associations

    PubMed Central

    Schneider, Susanne A; Bhatia, Kailash P

    2009-01-01

    Background: Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes. Purpose: The purpose of this article is to highlight some clinical clues and syndromic associations as well as investigational findings which may be helpful in the approach to a patient with suspected secondary dystonia. Methods: We outline characteristic clinical and neuroimaging findings which may be directive in the diagnostic process of dystonia patients and facilitate making the correct diagnosis, thus allowing initiating the best treatment. Results: Secondary causes of dystonia include, among others, strategic brain lesions of various origins, metabolic disease, neurodegenerative conditions, and previous exposure to drugs or toxins. Presence of clinical signs including prominent oromandibular involvement, eye movement disorders, retinitis pigmentosa, deafness, peripheral neuropathy, parkinsonism or progressive dementia should alert the clinician to consider a secondary cause. Strategic lesions within the basal ganglia, but also within the brainstem, cerebellum or cortical areas may underlie dystonia and should thus be excluded. Conclusions: When thorough clinical examination reveals features atypical of primary dystonia, syndromic associations may help the clinician to narrow down the list of differential diagnosis. Directive investigations like neuroimaging may confirm the clinical suspicion. PMID:24868358

  13. Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.

    PubMed

    Castellano, José M; Silvay, George; Castillo, Javier G

    2014-09-01

    Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective. © The Author(s) 2013.

  14. Respiratory infection of turkeys with Listeria monocytogenes Scott A.

    PubMed

    Huff, G R; Huff, W E; Beasley, J N; Rath, N C; Johnson, M G; Nannapaneni, R

    2005-12-01

    The pathogenesis of L. monocytogenes strain Scott A was studied by challenging day-old male turkey poults by air sac inoculation with tryptose phosphate broth containing 10(0) cfu (control), 10(4), 10(5), and 10(6) cfu (low challenge), or 10(7) and 10(8) cfu (high challenge) of the Scott A (serotype 4b) strain of L. monocytogenes. Mortality at 2 wk postinfection (PI) ranged from 25% for low challenge to 100% for high challenge (P= 0.0001). Gross and histopathological lesions were observed in heart, liver, spleen, lung, and bursa of Fabricius of mortalities at 4 days PI. Listeria monocytogenes challenge resulted in significantly decreased relative weight of the bursa of Fabricius and increased relative weight of the spleen, and L. monocytogenes was isolated by direct plating of liver, pericardium, brain, and both left and right stifle joint synovium (knee) cultures, as well as gall bladder, yolk sac, and cecal tonsil from transfer swabs onto Listeria-selective agar. Isolates were confirmed as positive using Gram stain, biochemical tests, and the Biolog system. High challenge resulted in confirmed L. monocytogenes isolation from 48% of left knee and 59% of right knee cultures. Low challenge resulted in isolation of L. monocytogenes from 11% of both left and right knee cultures. These results suggest that L. monocytogenes Scott A colonization of turkey knee synovial tissue can initiate in day-of-age poults and that L. monocytogenes Scott A can be invasive through air sac infection.

  15. Scott Altman flying Shuttle Training Aircraft (STA).

    NASA Image and Video Library

    2009-03-04

    JSC2009-E-054053 (4 March 2009) --- Astronaut Scott Altman, STS-125 commander, flies a Shuttle Training Aircraft (STA) over White Sands Test Facility, New Mexico, during a training session. Photo Credit: Richard N. Clark, AOD division chief

  16. Scott Altman flying Shuttle Training Aircraft (STA).

    NASA Image and Video Library

    2009-03-04

    JSC2009-E-054052 (4 March 2009) --- Astronaut Scott Altman, STS-125 commander, flies a Shuttle Training Aircraft (STA) over White Sands Test Facility, New Mexico, during a training session. Photo Credit: Richard N. Clark, AOD division chief

  17. CLINICAL AND IMAGING FEATURES OF OTHELLO'S SYNDROME

    PubMed Central

    Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.

    2011-01-01

    Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

  18. Reading, Learning, Teaching N. Scott Momaday

    ERIC Educational Resources Information Center

    Charles, Jim

    2007-01-01

    This book is an introduction to the literature and art of American writer N. Scott Momaday, winner of the 1969 Pulitzer Prize and member of the Kiowa American Indian Tribe. The book describes the impact of Momaday's family, Kiowa heritage, Pueblo cultural experiences, and academic preparation on his worldview, poetry, novels, essays, children's…

  19. Under the Radar: The First Woman in Radio Astronomy, Ruby Payne-Scott

    NASA Astrophysics Data System (ADS)

    Miller Goss, W.

    2012-05-01

    Under the Radar, the First Woman in Radio Astronomy, Ruby Payne-Scott W. Miller Goss, NRAO Socorro NM Ruby Payne-Scott (1912-1981) was an eminent Australian scientist who made major contributions to the WWII radar effort (CSIR) from 1941 to 1945. In late 1945, she pioneered radio astronomy efforts at Dover Heights in Sydney, Australia at a beautiful cliff top overlooking the Tasman Sea. Again at Dover Heights, Payne-Scott carried out the first interferometry in radio astronomy using an Australian Army radar antenna as a radio telescope at sun-rise, 26 January 1946. She continued these ground breaking activities until 1951. Ruby Payne-Scott played a major role in discovering and elucidating the properties of Type III bursts from the sun, the most common of the five classes of transient phenomena from the solar corona. These bursts are one of the most intensively studied forms of radio emission in all of astronomy. She is also one of the inventors of aperture synthesis in radio astronomy. I examine her career at the University of Sydney and her conflicts with the CSIR hierarchy concerning the rights of women in the work place, specifically equal wages and the lack of permanent status for married women. I also explore her membership in the Communist Party of Australia as well as her partially released Australian Scientific Intelligence Organization file. Payne-Scott’s role as a major participant in the flourishing radio astronomy research of the post war era remains a remarkable story. She had a number of strong collaborations with the pioneers of early radio astronomy in Australia: Pawsey, Mills, Christiansen, Bolton and Little. I am currently working on a popular version of the Payne-Scott story; “Making Waves, The Story of Ruby Payne-Scott: Australian Pioneer Radio Astronomer” will be published in 2013 by Springer in the Astronomers’ Universe Series.

  20. Narrating Socialization: Linda Scott DeRosier's Memoirs

    ERIC Educational Resources Information Center

    Locklear, Erica Abrams

    2007-01-01

    Linda Scott DeRosier's autobiographical accounts of literacy attainment in "Creeker: A Woman's Journey" and "Songs of Life and Grace" reveal that entrance into a secondary discourse community via literacy can bring both pleasure and pain. Analyzing the identity negotiations DeRosier encounters reveals that although she…

  1. Astronaut Scott Parazynski during egress training

    NASA Technical Reports Server (NTRS)

    1994-01-01

    Astronaut Scott E. Parazynski looks at fellow STS-66 mission specialist Joseph R. Tanner, (foreground) during a rehearsal of procedures to be followed during the launch and entry phases of their scheduled November 1994 flight. This rehearsal, held in the crew compartment trainer (CCT) of JSC's Shuttle mockup and integration laboratory, was followed by a training session on emergency egress procedures.

  2. Thinking Visually: An Interview with Scott Bennett.

    ERIC Educational Resources Information Center

    Gamble, Harriet

    2002-01-01

    Presents an interview with Scott Bennett, an artist of abstract art and traditional craft. Focuses on issues such as the role of art in his life, how his art has developed over time, and his process of creating his works of art. Includes directions for a glazing project. (CMK)

  3. Metabolic syndrome pathophysiology and clinical presentation.

    PubMed

    Handelsman, Yehuda

    2009-01-01

    Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

  4. Astronaut Scott Parazynski during egress training

    NASA Technical Reports Server (NTRS)

    1994-01-01

    Astronaut Scott E. Parazynski looks at fellow STS-66 mission specialist Joseph R. Tanner, (partially visible in foreground) during a rehearsal of procedures to be followed during the launch and entry phases of their scheduled November 1994 flight. This rehearsal, held in the crew compartment trainer (CCT) of JSC's Shuttle mockup and integration laboratory, was followed by a training session on emergency egress procedures.

  5. An oral clinical approach to Gorlin-Goltz syndrome.

    PubMed

    Abreu, Lucas Guimaraes; Paiva, Saul Martins; Pretti, Henrique; Bastos Lages, Elizabeth Maria; Castro, Wagner Henriques

    2015-01-01

    Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

  6. Reframing Michael Scott: Exploring Inappropriate Workplace Communication

    ERIC Educational Resources Information Center

    Schaefer, Zachary A.

    2010-01-01

    Individuals who work in professional settings interact with others who may exhibit a variety of cultural beliefs and decision-making approaches. Page (2007) argues that cognitive diversity (i.e., how people approach and attempt to solve problems) is a vital asset in effective organizations. Michael Scott, who portrays the inept main character on…

  7. Astronaut David Scott watching hammer and feather fall to lunar surface

    NASA Technical Reports Server (NTRS)

    1971-01-01

    Astronaut David R. Scott, Apollo 15 commander, watches a geological hammer and a feather hit the lunar surface simultaneously in a test of Galileo's law of motion concerning falling bodies, as seen in this color reproduction taken from a transmission made by the RCA color television camera mounted on the Lunar Roving Vehicle. Scott released the hammer from his right hand and the feather from his left at the same instant. This experiment occured toward the end of the third and final lunar surface extravehicular activity.

  8. [Clinical analysis of 6 cases of Bartter syndrome].

    PubMed

    Yin, Fang-mei; Zheng, Fang-qiu; Zhang, Xin; Wu, Mei-jun; Wei, Hong-yan; Ma, Zhong-shu; Lu, Biao; Qiu, Ming-cai

    2011-03-01

    To summarize the clinical characteristics of Bartter syndrome and investigate its pathogenesis. The clinical data of 6 cases of Bartter syndrome at our hospital from November 2006 to May 2010 were analyzed retrospectively. The onset age of Bartter syndrome was 13-35 years old. The main symptoms included weakness (6/6), paralysis (1/6), numbness (5/6) and tetany (4/6). All patients had normal blood pressure. The biochemical tests showed persistent hypokalemia, metabolic alkalosis (6/6) and hyperreninemia. The pathological examination of deltoid muscle biopsy showed the swelling, degeneration and necrosis of myocytes and the deposition of immunocomplex in myolemma. And the pathological examination of renal biopsy showed the hyperplasia of juxtaglomerular apparatus (5/6) and the deposition of immunocomplex. All symptoms were relieved after a therapy of potassium supplementation or a combination of indomethacin, spironolactone and immunosuppressant. When such clinical features as weakness, paralysis, tetany, hypokalemic alkalosis and normotension are encountered, Bartter syndrome should be suspected. Serum electrolytes, blood gas analysis and activation of the renin-angiotensin-aldosterone system should be examined for a definite diagnosis. The treatment of choice includes potassium and magnesium supplementation or in combination with prostaglandin synthetase inhibitor, aldosterone antagonist and immunosuppressant. Immunologic mechanism may participate in the course of Bartter syndrome.

  9. Astronaut Scott Carpenter tests balance mechanism performance

    NASA Technical Reports Server (NTRS)

    1961-01-01

    Astronaut M. Scott Carpenter's balance mechanism performance is tested by his walking on a narrow board in his bare feet. He is performing this test at the School of Aviation Medicine, Pensicola, Florida (04570); Carpenter walks a straight line by putting one foot directly in front of the other to test his balance (04571).

  10. The SAPHO syndrome: a clinical and imaging study.

    PubMed

    Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

    2011-02-01

    The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

  11. [Clinical and pathological features of Alport syndrome in children].

    PubMed

    Zhu, Chun-Hua; Huang, Song-Ming; Wu, Hong-Mei; Bao, Hua-Ying; Chen, Ying; Han, Yuan; Zhao, Fei; Zhang, Ai-Hua; Zhang, Wei-Zhen

    2010-03-01

    To study the clinical and pathological features of Alport syndrome in children. The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed. There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV. The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.

  12. Temporomandibular joint dysfunction syndrome. A clinical report.

    PubMed

    Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

    1985-08-01

    We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

  13. Prevention, clinical, and pathophysiological research on vibration syndrome.

    PubMed

    Yamada, S; Sakakibara, H; Harada, N; Matsumoto, T

    1993-11-01

    In the 1950s, introduction of portable power tools into the production process of many industries began on a large scale around the world and resulted in many cases of occupational vibration syndrome after the 1960s. There was an urgent need to undertake preventive steps, medical assessment and therapy throughout the world. At the end of 1964, our investigation began in Japanese national forests, and then in mining and stone quarries. Our research and efforts resulted in a comprehensive system for prevention of vibration syndrome in the Japanese national forest industry. It has presented a good model of prevention for other industries in Japan. Clinical and pathophysiological research on vibration syndrome in the 1960s and 1970s clarified disturbances of the peripheral circulatory, nervous, and musculoskeletal systems. From the mid-1970s, neurophysiological, neurochemical, and clinical research on vibration syndrome in relation to the autonomic nervous system developed. Our studies contributed to the advancement of research in this field. More in-depth study is needed to determine the role of the autonomic nervous system in vibration syndrome.

  14. Scott Fitzgerald: famous writer, alcoholism and probable epilepsy.

    PubMed

    Wolski, Mariana M; Paola, Luciano de; Teive, Hélio A G

    2017-01-01

    Scott Fitzgerald, a world-renowned American writer, suffered from various health problems, particularly alcohol dependence, and died suddenly at the age of 44. According to descriptions in A Moveable Feast, by Ernest Hemingway, Fitzgerald had episodes resembling complex partial seizures, raising the possibility of temporal lobe epilepsy.

  15. [Asperger syndrome: evolution of the concept and current clinical data].

    PubMed

    Aussilloux, C; Baghdadli, A

    2008-05-01

    Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

  16. Clinical Audit of Gastrointestinal Conditions Occurring among Adults with Down Syndrome Attending a Specialist Clinic

    ERIC Educational Resources Information Center

    Wallace, Robyn A.

    2007-01-01

    Background: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. Method: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. Results: From January 2003 to March 2005, 57 patients attended the clinic,…

  17. Noonan syndrome and clinically related disorders

    PubMed Central

    Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

    2010-01-01

    Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

  18. Cauda equina syndrome: evaluation of the clinical outcome.

    PubMed

    Tamburrelli, F C; Genitiempo, M; Bochicchio, M; Donisi, L; Ratto, C

    2014-01-01

    Cauda equina syndrome is a rare but highly impairing syndrome involving lower limbs as well as urinary, defecatory and sexual function. In the literature the most investigated sphincter dysfunction is the urinary. Bowel and sexual function are often overlooked since they become more relevant after the acute phase. Eight consecutive male patients affected by cauda equina syndrome with sphincter dysfunction due to herniated disc disease of lumbar spine were treated between 2007 and 2009. Five patients were followed-up for at least two years. Sexual function was evaluated by IIEF-5 questionnaire; bowel function was investigated by means of clinical and instrumental investigation and manometry. Although little clinical improved, patients still complained severe symptoms at first year follow-up while all but one improved significantly in the following year. At two years follow-up only the patient whose cauda equina syndrome was misdiagnosed and surgically treated late respect to the onset of the syndrome, complained a persistent severe sexual and bowel dysfunction. Our results show that a long-term follow-up is mandatory to evaluate the real outcome of surgical managed cauda equine syndrome because short-term evaluation could be misleading about the residual capacity of late neurologic improving. Despite the relatively low number of cases evaluated, our results confirm that early diagnosing and treating the syndrome are relevant for the final outcome.

  19. Astronaut David Scott practicing for Gemini 8 EVA

    NASA Image and Video Library

    1966-02-01

    S66-19284 (1 Feb. 1966) --- Astronaut David R. Scott practicing for Gemini-8 extravehicular activity (EVA) in building 4 of the Manned Spacecraft Center on the air bearing floor. He is wearing the Hand-Held Maneuvering Unit which he will use during the EVA. Photo credit: NASA

  20. Apollo 9 Mission image - Scott in CM cabin

    NASA Image and Video Library

    1969-03-03

    View of Astronaut David R.Scott ,Apollo 9 Command Module pilot, inside the Command Module "Gumdrop" during the Apollo 9 earth-orbital mission. . Film magazine was D,film type was SO-368 Ektachrome with 0.460 - 0.710 micrometers film / filter transmittance response and haze filter,80mm lens.

  1. STS-100 Crew Interview: Scott Parazynski

    NASA Technical Reports Server (NTRS)

    2001-01-01

    STS-100 Mission Specialist Scott Parazynski is seen being interviewed. He answers questions about his inspiration to become an astronaut and his career path. He gives details on the mission's goals and significance, the rendezvous and docking of Endeavour with the International Space Station (ISS), the mission's spacewalks, and installation and capabilities of the Space Station robotic arm, UHF antenna, and Rafaello Logistics Module. Parazynski then discusses his views about space exploration as it becomes an international collaboration.

  2. Clinical manifestations of trisomy 4p syndrome.

    PubMed

    Patel, S V; Dagnew, H; Parekh, A J; Koenig, E; Conte, R A; Macera, M J; Verma, R S

    1995-06-01

    Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.

  3. Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

    PubMed

    Kraya, Torsten; Neumann, Lena; Paelecke-Habermann, Yvonne; Deschauer, Marcus; Stoevesandt, Dietrich; Zierz, Stephan; Watzke, Stefan

    2017-12-29

    To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS. Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  4. Walter Dill Scott and the Student Personnel Movement

    ERIC Educational Resources Information Center

    Biddix, J. Patrick; Schwartz, Robert A.

    2012-01-01

    Walter Dill Scott (1869-1955), tenth president of Northwestern University and pioneer of industrial psychology, is an essential architect of student personnel work. This study of his accomplishments, drawing on records from the Northwestern University archives, tells a story about the people he influenced and his involvement in codifying what was…

  5. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

    ERIC Educational Resources Information Center

    Finucane, Brenda; Haas-Givler, Barbara

    2009-01-01

    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  6. Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

    PubMed

    Fujita, Daishi; Takeda, Norifumi; Imai, Yasushi; Inuzuka, Ryo; Komuro, Issei; Hirata, Yasunobu

    2014-08-01

    Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome. © 2014 Japan Pediatric Society.

  7. Clinical presentation of Churg–Strauss syndrome in children

    PubMed Central

    Razenberg, Femke G.E.M.; Heynens, Jan W.C.M.; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C.; de Blic, Jacques; Rosias, Philippe P.R.

    2012-01-01

    Churg–Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg–Strauss syndrome. The propositus included, 50 cases of childhood Churg–Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg–Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome. PMID:26029598

  8. Single and Multiple Clinical Syndromes in Incarcerated Offenders: Associations With Dissociative Experiences and Emotionality

    PubMed Central

    Garofalo, Carlo; Velotti, Patrizia; Crocamo, Cristina; Carrà, Giuseppe

    2017-01-01

    The present study examined the prevalence and correlates of clinical syndromes in a large group (N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically relevant symptoms for at least one clinical syndrome (n = 252), and the majority of them (38%) reported more syndromes in comorbidity (n = 169). Increased severity of clinical conditions (none, one, more than one syndrome) corresponded with significantly greater levels of personality disorder traits, psychological symptoms, dissociation, and negative emotionality, with large effect sizes. After controlling for co-occurrence of personality disorder traits and other symptoms, the presence of more than one comorbid syndrome significantly predicted unique variance in dissociation (positively) and positive emotionality (negatively). The presence of one clinical syndrome significantly and positively predicted negative emotionality. Findings support the possibility that the complexity, and not just the presence, of psychopathology could identify different groups of inmates. PMID:27913716

  9. Single and Multiple Clinical Syndromes in Incarcerated Offenders: Associations With Dissociative Experiences and Emotionality.

    PubMed

    Garofalo, Carlo; Velotti, Patrizia; Crocamo, Cristina; Carrà, Giuseppe

    2018-04-01

    The present study examined the prevalence and correlates of clinical syndromes in a large group ( N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically relevant symptoms for at least one clinical syndrome ( n = 252), and the majority of them (38%) reported more syndromes in comorbidity ( n = 169). Increased severity of clinical conditions (none, one, more than one syndrome) corresponded with significantly greater levels of personality disorder traits, psychological symptoms, dissociation, and negative emotionality, with large effect sizes. After controlling for co-occurrence of personality disorder traits and other symptoms, the presence of more than one comorbid syndrome significantly predicted unique variance in dissociation (positively) and positive emotionality (negatively). The presence of one clinical syndrome significantly and positively predicted negative emotionality. Findings support the possibility that the complexity, and not just the presence, of psychopathology could identify different groups of inmates.

  10. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

    PubMed

    Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

    2005-10-12

    To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

  11. [Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].

    PubMed

    Seeliger, M W; Fischer, M D; Pfister, M

    2009-06-01

    Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because in January 2009 a new compulsory screening of auditory function in newborn infants was introduced. Consequently, it can be expected that a higher number of patients with Usher syndrome will be identified in early childhood and referred to ophthalmologists. The focus of this work is to introduce the typical clinical picture of Usher syndrome, summarize diagnostic options, and give an overview of therapeutic strategies.

  12. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

    PubMed

    Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

    2013-12-01

    Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. © 2013 Wiley Periodicals, Inc.

  13. Kindler syndrome: a case report and proposal for clinical diagnostic criteria.

    PubMed

    Fischer, Irena Angelova; Kazandjieva, Jana; Vassileva, Snejina; Dourmishev, Assen

    2005-06-01

    Kindler syndrome is a rare hereditary disorder characterized by acral blister formation in infancy and childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. Since it was first described in 1954, less than 100 cases have been reported worldwide. Recently it has been reported that Kindler syndrome is the first genodermatosis caused by a defect in the actin-extracellular matrix linkage, and the gene was mapped to chromosome 20p12.3. The clinical features of the syndrome have been annotated by different authors but the definite of criteria to confirm the diagnosis have not yet been generally accepted. We report a case of Kindler syndrome that presents a full spectrum of clinical manifestations, and we propose a set of clinical criteria for diagnosis.

  14. RSCABS: An R package for performing the Rao-Scott Adjusted Cochran-Armitage trend test By Slices

    EPA Science Inventory

    RSCABS[3] (Rao-Scott adjusted Cochran-Armitage trend test By Slices) is a modification to the Rao-Scott[5] adjusted Cochran-Armitage trend test[1, 2] that allows for testing at each individual severity score often seen in histopathological data. The test was originally developed ...

  15. Drug Hypersensitivity: Pharmacogenetics and Clinical Syndromes

    PubMed Central

    Phillips, Elizabeth J.; Chung, Wen-Hung; Mockenhaupt, Maja; Roujeau, Jean-Claude; Mallal, Simon A.

    2011-01-01

    Severe cutaneous adverse reactions (SCARs) include syndromes such as drug reaction, eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes including abacavir hypersensitivity reaction, allopurinol DRESS/DIHS and SJS/TEN and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of SCARs. The roll-out of HLA-B*5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs such as carbamazepine where the positive predictive value of HLA-B*1502 is low and the negative predictive value of HLA-B*1502 for SJS/TEN may not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotype standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes. PMID:21354501

  16. Ron Scott d/b/a White Dog Painting Information Sheet

    EPA Pesticide Factsheets

    Ron Scott d/b/a White Dog Painting (the Company) is located in Kansas City, Missouri. The settlement involves renovation activities conducted at property constructed prior to 1978, located in Kansas City, Missouri.

  17. Theorizing Steampunk in Scott Westerfeld's YA Series Leviathan

    ERIC Educational Resources Information Center

    Mielke, Tammy L.; LaHaie, Jeanne M.

    2015-01-01

    In this article, we offer an explanation of steampunk and theorize the genre and its functions within Scott Westerfeld's YA series Leviathan. In order to do so, we examine the "cogs" of the genre machine and its use of nostalgic longing for a revised past/future to rebel against present day cultural norms. Critics note that steampunk…

  18. Astronauts Brian Duffy, in commander's seat, and Winston E. Scott discuss their scheduled flight

    NASA Technical Reports Server (NTRS)

    1996-01-01

    STS-72 TRAINING VIEW --- Astronauts Brian Duffy, in commander's seat, and Winston E. Scott discuss their scheduled flight aboard the Space Shuttle Endeavour. The two are on the flight deck of the Johnson Space Center's (JSC) fixed base Shuttle Mission Simulator (SMS). Duffy, mission commander, and Scott, mission specialist, will be joined for the winter flight by three other NASA astronauts and an international mission specialist representing NASDA.

  19. RS3PE syndrome: a clinical and immunogenetical study.

    PubMed

    Queiro, Rubén

    2004-03-01

    This study analyses the clinical, radiological, evolutive, and immunogenetical characteristics of a series of patients diagnosed with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Reviewed were the clinical charts and human leukocyte antigen (HLA) profiles of all patients treated at a single teaching hospital fulfilling the features of this syndrome according to the definition of McCarty. Twelve cases were detected in ten men and two women aged from 62 to 85 years. Rheumatoid factor was negative in all cases, and antinuclear antibodies (ANA) were positive in two. All patients achieved complete resolution of their condition within 1 year with glucocorticoid (GC) use. Two relapsed after remission but responded again to low doses of GC. Four patients showed clinical and electrodiagnostic studies consistent with carpal tunnel syndrome. No specific HLA association could be found in this report. To date, none of these patients has developed definite rheumatic diseases, infections, or malignant diseases. Although the real nature of the syndrome is still a matter of debate, at least in our context, RS3PE remains a definite condition with an excellent prognosis.

  20. [From "deadly quartet" to "metabolic syndrome". An analysis of its clinical relevance].

    PubMed

    Vancheri, Federico; Burgio, Antonio; Dovico, Rossana

    2007-03-01

    The metabolic syndrome denotes a clustering of specific risk factors for both cardiovascular disease and type 2 diabetes, whose underlying pathophysiology is believed to include insulin resistance. It has been widely reported that the syndrome is a simple clinical tool to identify people at high long term risk of cardiovascular disease and diabetes. However, its clinical importance is under debate. There are substantial uncertainties about the clinical definition of the syndrome, as to whether the risk factors clustering indicates a single unifying disorder, whether the risk conferred by the condition as a whole is higher risk than its individual components, and whether its predictive value of future cardiovascular events or diabetes is greater than established predicting models such as the Framingham Risk Score and the Diabetes Risk Score. We undertook an extensive review of the literature. Our analysis indicates that current definitions of the syndrome are incomplete or ambiguous, more than one pathophysiological process underlies the syndrome, although the combination of insulin resistance and hyperinsulinemia are related to most cases; the risk associated with the syndrome is no greater than that explained by the presence of its components, and the syndrome is less effective in predicting the future development of cardiovascular events and diabetes than established predicting models. Although the syndrome has some importance in understanding the pathophysiology of cardiovascular and diabetes risk factors clustering, its use as a clinical syndrome is not justified by current data.

  1. STS-105 Crew Interview: Scott Horowitz

    NASA Technical Reports Server (NTRS)

    2001-01-01

    STS-105 Commander Scott Horowitz is seen during a prelaunch interview. He answers questions about his inspiration to become an astronaut, his career path, training for the mission, and his role in the mission's activities. He gives details on the mission's goals, which include the transfer of supplies from the Discovery Orbiter to the International Space Station (ISS) and the change-over of the Expedition 2 and Expedition 3 crews (the resident crews of ISS). Horowitz discusses the importance of the ISS in the future of human spaceflight.

  2. The Arcadia zinc area, Scott County, Virginia

    USGS Publications Warehouse

    Gladstone, Irvine; Nelson, Vincent E.; Kent, Deane F.

    1945-01-01

    The Arcadia zinc area in the southeastern part of Scott County, Va., about 1 1/2 mile north of the village of Arcadia, Tenn., and in the eastern part of the Indian Springs topographic map area. According to Secrist prospects were opened in 1906 by Mr. Frank Bowman and were worked sporadically until the fall of 1917. A small Joplin type mill was erected in 1948 and 25 tones of concentrates was produced.

  3. ASTRONAUT SCOTT, DAVID R. - INTERIOR - WATER EGRESS TRAINING (GEMINI-TITAN [GT]-8 PRIME CREW) - MSC

    NASA Image and Video Library

    1966-01-05

    S66-15743 (5 Jan. 1966) --- Astronaut David R. Scott, pilot of the Gemini-8 prime crew, undergoes water egress training in a special tank in building 260A at the Manned Spacecraft Center (MSC), Houston, Texas. An MSC swimmer assists in the training exercise. A boilerplate model of a Gemini spacecraft floats in the water beside Scott. Photo credit: NASA

  4. Geologic Map of the Scott City 7.5-Minute Quadrangle, Scott and Cape Girardeau Counties, Missouri

    USGS Publications Warehouse

    Harrison, Richard W.; Palmer, James R.; Hoffman, David; Vaughn, James D.; Repetski, John E.; Frederiksen, Norman O.; Forman, Steven L.

    2002-01-01

    The Scott City quadrangle is located at the northern end of the Mississippi embayment (fig. 1). The quadrangle contains parts of three physiographic features: the abandoned channel of the ancestral Mississippi River, the Benton Hills, and the flood plain of the ancestral Ohio River and modern Mississippi River. These features are largely the manifestation of the Quaternary evolution of the Mississippi and Ohio Rivers, the chronology and analysis of which has been discussed by Fisk (1944), Saucier (1968, 1974, 1994), Guccione and others (1990), Madole and others (1991), Autin and others (1991), Porter and Guccione (1994), and Blum and others (1995a,b).

  5. Astronaut Scott Parazynski in hatch of CCT during training

    NASA Technical Reports Server (NTRS)

    1994-01-01

    Astronaut Scott E. Parazynski, STS-66 mission specialist, poses at the hatch of the crew compartment trainer (CCT) prior to a rehearsal of launch and entry procedures for a November 1994 flight aboard the Space Shuttle Atlantis. Parazynski is wearing his launch and entry suit for this training session.

  6. [Free radicals in the origin and clinical manifestation of Down's syndrome].

    PubMed

    Arbuzova, S B

    1996-01-01

    The high level of free radicals and antioxidant protection disbalancing cause the chromosome nondisjunction in meiosis, appearance of trisomy 21 and fetuses with Down's syndrome, age-dependent pathology, of parent's mosaic clone, clinical manifestations of the syndrome, diseases in relatives, recurrent cases of trisomy 21. The comparative analysis of clinical traits of Down's syndrome and pathological changes in families with after-effects of radiation exposure was carried out. The factors causing an increase in the level of free radicals were considered.

  7. [Autoimmune/inflammatory syndrome induced by adjuvants. A new clinical entity?

    PubMed

    Ferrer-Cosme, Belkis; Téllez-Martínez, Damiana; Batista-Duharte, Alexander

    2017-01-01

    Recently Shoenfeld and Agmon-Levin proposed a new clinical entity called autoimmune/inflammatory syndrome induced by adjuvants (ASIA), which includes four clinical entities called: 1) siliconosis, 2) Gulf War syndrome, 3) macrophage myofasciitis) and 4) post-vaccination phenomenon associated with adjuvants. They all have a common denominator: a prior exposure to immunoadjuvants, and, in addition, they also share several clinical criteria associated to chronic inflammation and autoimmune reactions. This proposal still needs to be validated by the scientific community, but nowadays is a topic of hot discussion in the literature and in various international conferences. In this revision article, we analyze the characteristics of this syndrome, the current mechanisms possibly involved in the pathogenesis, and the more recent reports regarding ASIA associated to vaccine and some foreign substances.

  8. [Magnetic Resonance Imaging Conversion Predictors of Clinically Isolated Syndrome to Multiple Sclerosis].

    PubMed

    Peixoto, Sara; Abreu, Pedro

    2016-11-01

    Clinically isolated syndrome may be the first manifestation of multiple sclerosis, a chronic demyelinating disease of the central nervous system, and it is defined by a single clinical episode suggestive of demyelination. However, patients with this syndrome, even with long term follow up, may not develop new symptoms or demyelinating lesions that fulfils multiple sclerosis diagnostic criteria. We reviewed, in clinically isolated syndrome, what are the best magnetic resonance imaging findings that may predict its conversion to multiple sclerosis. A search was made in the PubMed database for papers published between January 2010 and June 2015 using the following terms: 'clinically isolated syndrome', 'cis', 'multiple sclerosis', 'magnetic resonance imaging', 'magnetic resonance' and 'mri'. In this review, the following conventional magnetic resonance imaging abnormalities found in literature were included: lesion load, lesion location, Barkhof's criteria and brain atrophy related features. The non conventional magnetic resonance imaging techniques studied were double inversion recovery, magnetization transfer imaging, spectroscopy and diffusion tensor imaging. The number and location of demyelinating lesions have a clear role in predicting clinically isolated syndrome conversion to multiple sclerosis. On the other hand, more data are needed to confirm the ability to predict this disease development of non conventional techniques and remaining neuroimaging abnormalities. In forthcoming years, in addition to the established predictive value of the above mentioned neuroimaging abnormalities, different clinically isolated syndrome neuroradiological findings may be considered in multiple sclerosis diagnostic criteria and/or change its treatment recommendations.

  9. Reliability and validity of the Salford-Scott Nursing Values Questionnaire in Turkish.

    PubMed

    Ulusoy, Hatice; Güler, Güngör; Yıldırım, Gülay; Demir, Ecem

    2018-02-01

    Developing professional values among nursing students is important because values are a significant predictor of the quality care that will be provided, the clients' recognition, and consequently the nurses' job satisfaction. The literature analysis showed that there is only one validated tool available in Turkish that examines both the personal and the professional values of nursing students. The aim of this study was to assess the reliability and validity of the Salford-Scott Nursing Values Questionnaire in Turkish. This study was a Turkish linguistic and cultural adaptation of a research tool. Participants and research context: The sample of this study consisted of 627 undergraduate nursing students from different geographical areas of Turkey. Two questionnaires were used for data collection: a socio-demographic form and the Salford-Scott Nursing Values Questionnaire. For the Salford-Scott Nursing Values Questionnaire, construct validity was examined using factor analyses. Ethical considerations: The study was approved by the Cumhuriyet University Faculty of Medicine Research Ethics Board. Students were informed that participation in the study was entirely voluntary and anonymous. Item content validity index ranged from 0.66 to 1.0, and the total content validity index was 0.94. The Kaiser-Meyer-Olkin measure of sampling was 0.870, and Bartlett's test of sphericity was statistically significant (x 2 = 3108.714, p < 0.001). Construct validity was examined using factor analyses and the six factors were identified. Cronbach's alpha was used to assess the internal consistency reliability and the value of 0.834 was obtained. Our analyses showed that the Turkish version of Salford-Scott Nursing Values Questionnaire has high validity and reliability.

  10. Prediction of polycystic ovarian syndrome based on ultrasound findings and clinical parameters.

    PubMed

    Moschos, Elysia; Twickler, Diane M

    2015-03-01

    To determine the accuracy of sonographic-diagnosed polycystic ovaries and clinical parameters in predicting polycystic ovarian syndrome. Medical records and ultrasounds of 151 women with sonographically diagnosed polycystic ovaries were reviewed. Sonographic criteria for polycystic ovaries were based on 2003 Rotterdam European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine guidelines: at least one ovary with 12 or more follicles measuring 2-9 mm and/or increased ovarian volume >10 cm(3) . Clinical variables of age, gravidity, ethnicity, body mass index, and sonographic indication were collected. One hundred thirty-five patients had final outcomes (presence/absence of polycystic ovarian syndrome). Polycystic ovarian syndrome was diagnosed if a patient had at least one other of the following two criteria: oligo/chronic anovulation and/or clinical/biochemical hyperandrogenism. A logistic regression model was constructed using stepwise selection to identify variables significantly associated with polycystic ovarian syndrome (p < .05). The validity of the model was assessed using receiver operating characteristics and Hosmer-Lemeshow χ(2) analyses. One hundred twenty-eight patients met official sonographic criteria for polycystic ovaries and 115 (89.8%) had polycystic ovarian syndrome (p = .009). Lower gravidity, abnormal bleeding, and body mass index >33 were significant in predicting polycystic ovarian syndrome (receiver operating characteristics curve, c = 0.86). Pain decreased the likelihood of polycystic ovarian syndrome. Polycystic ovaries on ultrasound were sensitive in predicting polycystic ovarian syndrome. Ultrasound, combined with clinical parameters, can be used to generate a predictive index for polycystic ovarian syndrome. © 2014 Wiley Periodicals, Inc.

  11. Astronaut David Scott - Sample - "Genesis Rock" - MSC

    NASA Image and Video Library

    1971-08-12

    S71-43477 (12 Aug. 1971) --- Astronaut David R. Scott, right, commander of the Apollo 15 mission, gets a close look at the sample referred to as "Genesis rock" in the Non-Sterile Nitrogen Processing Line (NNPL) in the Lunar Receiving Laboratory (LRL) at the Manned Spacecraft Center (MSC). Scientist-astronaut Joseph P. Allen IV, left, an Apollo 15 spacecraft communicator, looks on with interest. The white-colored rock has been given the permanent identification of 15415.

  12. The Aarskog-Scott Syndrome Protein Fgd1 Regulates Podosome Formation and Extracellular Matrix Remodeling in Transforming Growth Factor β-Stimulated Aortic Endothelial Cells ▿

    PubMed Central

    Daubon, Thomas; Buccione, Roberto; Génot, Elisabeth

    2011-01-01

    Podosomes are dynamic actin-rich adhesion plasma membrane microdomains endowed with extracellular matrix-degrading activities. In aortic endothelial cells, podosomes are induced by transforming growth factor β (TGF-β), but how this occurs is largely unknown. It is thought that, in endothelial cells, podosomes play a role in vessel remodeling and/or in breaching anatomical barriers. We demonstrate here that, in bovine aortic endothelial cells, that the Cdc42-specific guanine exchange factor (GEF) Fgd1 is expressed and regulated by TGF-β to induce Cdc42-dependent podosome assembly. Within 15 min of TGF-β stimulation, Fgd1, but none of the other tested Cdc42 GEFs, undergoes tyrosine phosphorylation, associates with Cdc42, and translocates to the subcortical cytoskeleton via a cortactin-dependent mechanism. Small interfering RNA-mediated Fgd1 knockdown inhibits TGF-β-induced Cdc42 activation. Fgd1 depletion also reduces podosome formation and associated matrix degradation and these defects are rescued by reexpression of Fgd1. Although overexpression of Fgd1 does not promote podosome formation per se, it enhances TGF-β-induced matrix degradation. Our results identify Fgd1 as a TGF-β-regulated GEF and, as such, the first GEF to be involved in the process of cytokine-induced podosome formation. Our findings reveal the involvement of Fgd1 in endothelial cell biology and open up new avenues to study its role in vascular pathophysiology. PMID:21911474

  13. Hot Tub Folliculitis: A Clinical Syndrome

    PubMed Central

    Zacherle, Barry J.; Silver, Diane S.

    1982-01-01

    With the increasing use of hot tubs, patients are being seen with a distinct clinical syndrome that appears several hours or days after hot tub exposure. It consists of a maculovesicular, often pruritic rash, and commonly occurring associated symptoms including fever, upper respiratory tract complaints, axillary adenopathy and breast tenderness. Cultures in the cases described here grew out Pseudomonas aeruginosa, giving a diagnosis of Pseudomonas folliculitis. The illness clears spontaneously without any treatment. Proper attention to hot tub chlorination and use are probably important in preventing this problem, and awareness of the syndrome by physicians may prevent unnecessary and costly diagnostic studies and treatment programs. PMID:7147933

  14. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

    2015-08-01

    Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.

  15. [Clinical implications of polycystic ovary syndrome].

    PubMed

    Dravecká, Ingrid

    Polycystic ovary syndrome (PCOS) is a heterogeneous and complex endocrine disease which among the female population belongs to the most widespread endocrinopathies and it is the most frequent cause of hyperthyroidism, anticoagulation and infertility. Insulin resistance is one of the important diabetology factors impacting hyperglycaemia in a majority of women with PCOS (60-80 %). Clinical expressions of PCOS include reproduction disorders, metabolic characteristics and psychological implications. Reproduction disorders include hyperthyroidism, menstruation cycle disorders, infertility and pregnancy complications as well as early abortions, gestational diabetes and pregnancy induced hypertension. Long-term metabolic risks of PCOS include type 2 diabetes mellitus, dyslipidemia, arterial hypertension and endothelial dysfunction. The available data confirms higher incidence of cardiovascular diseases in women with PCOS. In particular among obese women PCOS is more frequently associated with non-alcoholic hepatic steatosis, sleep apnoea syndrome and endometrial cancer. The literature includes some controversial data about the relationship between PCOS and autoimmunity. Women with PCOS are more prone to suffer from insufficient confidence with higher incidence of anxiety, depression, bipolar disorder and eating disorders. autoimmunity - diabetes mellitus - pregnancy - insulin resistance - metabolic syndrome - menstrual disorders - polycystic ovary syndrome.

  16. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

    PubMed

    Zhou, Yaoyao; Zhang, Junfeng

    2014-09-20

    Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

  17. [Kindler syndrome: clinical and ultra-structural particularities, a propos of three cases].

    PubMed

    El Fekih, Nadia; Mahfoudh, Anis; Zekri, Samy; Kharfi, Monia; Fazaa, Bécima; Jaafoura, Mohamed Habib; Kamoun, Mohamed Ridha

    2011-08-01

    Kindler's syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new sibling cases of this rare syndrome. The condition was seen in three sisters aged 12, 16 and 20 years, born of a first-degree consanguineous marriage with no family history of Kindler's syndrome. The three patients presented spontaneously regressive bullous eruptions, poikilodermia of gradual onset, major cutaneous atrophy on the back of the hands and the feet, photosensitivity and gingival hypertrophy. Electron microscopy examination of poikilodermic skin showed normal anchoring filaments and intraepidermal cleavage. Diagnosis of Kindler's syndrome is based upon clinical evidence. Kidler's syndrome is a well defined clinical entity. Ultra-structural studies show intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and other bullous hereditary poikilodermas. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  18. Outcome Measures for Clinical Trials in Down Syndrome

    PubMed Central

    Esbensen, Anna J.; Hooper, Stephen R.; Fidler, Deborah; Hartley, Sigan; Edgin, Jamie; d’Ardhuy, Xavier Liogier; Capone, George; Conners, Frances; Mervis, Carolyn B.; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J.; Urv, Tiina

    2017-01-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the NIH assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This paper focuses on measures in the areas of cognition and behavior. PMID:28452584

  19. Astronaut David Scott gives salute beside U.S. flag during EVA

    NASA Image and Video Library

    1971-08-01

    AS15-88-11863 (1 Aug. 1971) --- Astronaut David R. Scott, commander, gives a military salute while standing beside the deployed United States flag during the Apollo 15 lunar surface extravehicular activity (EVA) at the Hadley-Apennine landing site. The flag was deployed toward the end of EVA-2. The Lunar Module (LM), "Falcon," is partially visible on the right. Hadley Delta in the background rises approximately 4,000 meters (about 13,124 feet) above the plain. The base of the mountain is approximately 5 kilometers (about three statue miles) away. This photograph was taken by astronaut James B. Irwin, lunar module pilot. While astronauts Scott and Irwin descended in the LM to explore the moon, astronaut Alfred M. Worden, command module pilot, remained in lunar orbit in the Command and Service Modules (CSM).

  20. Iridocorneal endothelial syndrome: clinical perspectives

    PubMed Central

    Walkden, Andrew; Au, Leon

    2018-01-01

    This article aims to review the clinical management strategies available for the rare iridocorneal endothelial syndrome. The different clinical variations as well as the imaging techniques available to aid diagnosis are discussed. We then present the evidence available to help the reader to understand how the condition can be managed medically and also the important surgical aspects of treatment. This involves raised intraocular pressure management in addition to the visual management options of partial or full thickness keratoplasty. We hope that this review provides an exhaustive but also succinct review of the literature available on what is a rare and difficult condition to treat. PMID:29670326

  1. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.

    PubMed

    Ye, Xin Cynthia; Ng, Isaiah; Seid-Karbasi, Puya; Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby; Wasserman, Wyeth W

    2013-08-06

    The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome, Cat Eye syndrome, Kabuki syndrome

  2. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

    PubMed Central

    Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby

    2013-01-01

    Background The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. Objective The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. Methods The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. Results A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome

  3. Clinical characteristics of childhood guillain-barré syndrome.

    PubMed

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim

    2008-07-01

    To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery.

  4. Increased PK11195-PET binding in normal-appearing white matter in clinically isolated syndrome

    PubMed Central

    Politis, Marios; Su, Paul; Turkheimer, Federico E.; Malik, Omar; Keihaninejad, Shiva; Wu, Kit; Waldman, Adam; Reynolds, Richard; Nicholas, Richard; Piccini, Paola

    2015-01-01

    The most accurate predictor of the subsequent development of multiple sclerosis in clinically isolated syndrome is the presence of lesions at magnetic resonance imaging. We used in vivo positron emission tomography with 11C-(R)-PK11195, a biomarker of activated microglia, to investigate the normal-appearing white matter and grey matter of subjects with clinically isolated syndrome to explore its role in the development of multiple sclerosis. Eighteen clinically isolated syndrome and eight healthy control subjects were recruited. Baseline assessment included: history, neurological examination, expanded disability status scale, magnetic resonance imaging and PK11195-positron emission tomography scans. All assessments except the PK11195-positron emission tomography scan were repeated over 2 years. SUPERPK methodology was used to measure the binding potential relative to the non-specific volume, BPND. We show a global increase of normal-appearing white matter PK11195 BPND in clinically isolated syndrome subjects compared with healthy controls (P = 0.014). Clinically isolated syndrome subjects with T2 magnetic resonance imaging lesions had higher PK11195 BPND in normal-appearing white matter (P = 0.009) and their normal-appearing white matter PK11195 BPND correlated with the Expanded Disability Status Scale (P = 0.007; r = 0.672). At 2 years those who developed dissemination in space or multiple sclerosis, had higher PK11195 BPND in normal-appearing white matter at baseline (P = 0.007 and P = 0.048, respectively). Central grey matter PK11195 BPND was increased in subjects with clinically isolated syndrome compared to healthy controls but no difference was found in cortical grey matter PK11195 BPND. Microglial activation in clinically isolated syndrome normal-appearing white matter is diffusely increased compared with healthy control subjects and is further increased in those who have magnetic resonance imaging lesions. Furthermore microglial activation in clinically

  5. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

    PubMed Central

    Kamiyoshi, Naohiro; Fu, Xue Jun; Morisada, Naoya; Nozu, Yoshimi; Ye, Ming Juan; Imafuku, Aya; Miura, Kenichiro; Yamamura, Tomohiko; Minamikawa, Shogo; Shono, Akemi; Ninchoji, Takeshi; Morioka, Ichiro; Nakanishi, Koichi; Yoshikawa, Norishige; Kaito, Hiroshi; Iijima, Kazumoto

    2016-01-01

    Background and objectives Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. Design, setting, participants, & measurements We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families. Patients with suspected Alport syndrome after pathologic examination who were referred from anywhere in Japan for genetic analysis from 2006 to 2015 were included in this study. Clinical, laboratory, and pathologic data were collected from medical records at the point of registration for genetic diagnosis. Genetic analysis was performed by targeted resequencing of 27 podocyte-related genes, including Alport–related collagen genes, to make a diagnosis of autosomal dominant Alport syndrome and identify modifier genes or double mutations. Clinical data were obtained from medical records. Results The median renal survival time was 70 years, and the median age at first detection of proteinuria was 17 years old. There was one patient with hearing loss and one patient with ocular lesion. Among 16 patients who underwent kidney biopsy, three showed FSGS, and seven showed thinning without lamellation of the glomerular basement membrane. Five of 13 detected mutations were reported to be causative mutations for autosomal recessive Alport syndrome in previous studies. Two families possessed double mutations in both collagen 4A3 and collagen 4A4, but no modifier genes were detected among the other podocyte–related genes. Conclusions The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive

  6. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

    PubMed

    Kamiyoshi, Naohiro; Nozu, Kandai; Fu, Xue Jun; Morisada, Naoya; Nozu, Yoshimi; Ye, Ming Juan; Imafuku, Aya; Miura, Kenichiro; Yamamura, Tomohiko; Minamikawa, Shogo; Shono, Akemi; Ninchoji, Takeshi; Morioka, Ichiro; Nakanishi, Koichi; Yoshikawa, Norishige; Kaito, Hiroshi; Iijima, Kazumoto

    2016-08-08

    Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families. Patients with suspected Alport syndrome after pathologic examination who were referred from anywhere in Japan for genetic analysis from 2006 to 2015 were included in this study. Clinical, laboratory, and pathologic data were collected from medical records at the point of registration for genetic diagnosis. Genetic analysis was performed by targeted resequencing of 27 podocyte-related genes, including Alport-related collagen genes, to make a diagnosis of autosomal dominant Alport syndrome and identify modifier genes or double mutations. Clinical data were obtained from medical records. The median renal survival time was 70 years, and the median age at first detection of proteinuria was 17 years old. There was one patient with hearing loss and one patient with ocular lesion. Among 16 patients who underwent kidney biopsy, three showed FSGS, and seven showed thinning without lamellation of the glomerular basement membrane. Five of 13 detected mutations were reported to be causative mutations for autosomal recessive Alport syndrome in previous studies. Two families possessed double mutations in both collagen 4A3 and collagen 4A4, but no modifier genes were detected among the other podocyte-related genes. The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive Alport syndrome or X-linked Alport syndrome in men. It may, thus, be difficult to make an

  7. Moving the Education Needle: A Conversation with Scott Hamilton

    ERIC Educational Resources Information Center

    Jacobs, Joanne

    2014-01-01

    Scott Hamilton is the Forrest Gump of education reform, although with a lot more IQ points and fewer chocolates. He worked for Bill Bennett in the U.S. Department of Education and for Benno Schmidt at the Edison Project. He authorized charter schools in Massachusetts, co-founded the KIPP network, quadrupled the size of Teach For America (TFA), and…

  8. [Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

    PubMed

    Feng, Yu; Gao, Yue-Ping

    2014-05-01

    Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

  9. Clinical and electrographic features of sunflower syndrome.

    PubMed

    Baumer, Fiona M; Porter, Brenda E

    2018-05-01

    Sunflower Syndrome describes reflex seizures - typically eyelid myoclonia with or without absence seizures - triggered when patients wave their hands in front of the sun. While valproate has been recognized as the best treatment for photosensitive epilepsy, many clinicians now initially treat with newer medications; the efficacy of these medications in Sunflower Syndrome has not been investigated. We reviewed all cases of Sunflower Syndrome seen at our institution over 15 years to describe the clinical course, electroencephalogram (EEG), and treatment response in these patients. Search of the electronic medical record and EEG database, as well as survey of epilepsy providers at our institution, yielded 13 cases of Sunflower Syndrome between 2002 and 2017. We reviewed the records and EEG tracings. Patients were mostly young females, with an average age of onset of 5.5 years. Seven had intellectual, attentional or academic problems. Self-induced seizures were predominantly eyelid myoclonia ± absences and 6 subjects also had spontaneous seizures. EEG demonstrated a normal background with 3-4 Hz spike waves ± polyspike waves as well as a photoparoxysmal response. Based on both clinical and EEG response, valproate was the most effective treatment for reducing or eliminating seizures and improving the EEG; 9 patients tried valproate and 66% had significant improvement or resolution of seizures. None of the nine patients on levetiracetam or seven patients on lamotrigine monotherapy achieved seizure control, though three patients had improvement with polypharmacy. Valproate monotherapy continues to be the most effective treatment for Sunflower Syndrome and should be considered early. For patients who cannot tolerate valproate, higher doses of lamotrigine or polypharmacy should be considered. Levetiracetam monotherapy, even at high doses, is unlikely to be effective. Copyright © 2018 Elsevier B.V. All rights reserved.

  10. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    ERIC Educational Resources Information Center

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  11. Clinical Spectrum of Autoerythrocyte Sensitization Syndrome: A Series of Five Cases

    PubMed Central

    Thokchom, Nandakishore Singh; Pradeepa, D.; Hafi, N. A. Bishurul; Verma, Kapila

    2018-01-01

    Autoerythrocyte sensitization syndrome (Gardner Diamond syndrome or GDS) is a rare syndrome characterized by painful and spontaneous purpura commonly affecting adult women, and is mostly associated with psychiatric illness. Diagnosis is mainly based on clinical presentation, exclusion of other simulating diseases, and psychiatric evaluation. Only few cases have been reported till date. We report five cases of spontaneous purpura with a normal investigation profile, except for iron deficiency anemia in 1 patient, of which three had associated underlying psychiatric illness. Autoerythrocyte sensitization test was positive in all our cases. Patients presenting with painful bruises without significant medical history such as underlying bleeding disorder or drug history or history of trauma should be considered for autoerythrocyte sensitization syndrome, and managed accordingly. The present study is a case series of patients with characteristic features of autoerythrocyte sensitization syndrome, considering the rarity of the reports on its clinical spectra. PMID:29644197

  12. Astronaut Scott Carpenter practices in the ALFA trainer at Langley

    NASA Technical Reports Server (NTRS)

    1962-01-01

    Project Mercury Astronaut M. Scott Carpenter practices in the Air Lubricated Free Attitude (ALFA) trainer located at NASA's Manned Spacecraft Center at Langley AFB, Virginia. This trainer allows the astronaut to see the image of the earth's surface at his feet while manually controlling the spacecraft.

  13. Prevalence and clinical correlates of metabolic syndrome in Nigerians living with human immunodeficiency virus/acquired immunodeficiency syndrome.

    PubMed

    Ayodele, Olugbenga Edward; Akinboro, Adeolu Oludayo; Akinyemi, Suliat Omolola; Adepeju, Akinlawon Adetiloye; Akinremi, Oluwaseun Akinsanmi; Alao, Christiana Adeola; Popoola, Adetoun Adedayo

    2012-10-01

    Sub-Saharan Africa bears an inordinate burden of human immunodeficiency virus (HIV) infection/acquired immune deficiency syndrome (AIDS). Reports have shown increased prevalence of clustering of cardiovascular risk factors referred to as metabolic syndrome in treatment-naïve patients and patients on highly active antiretroviral therapy (HAART). In view of the fact that metabolic syndrome is a heterogeneous disorder with substantial variability in the prevalence and component traits within and across populations and the dearth of publications on the prevalence and clinical correlates of metabolic syndrome in people living with HIV/AIDS (PLWHA) in Nigeria, this study was carried out to determine the prevalence and clinical correlates of metabolic syndrome among an HIV-infected outpatient population using the National Cholesterol Education Adult Treatment Panel III (NCEP ATP III), the International Diabetes Federation (IDF), and the Joint Interim Statement (JIS) definitions. We also sought to determine if HAART use and CD4 count level were associated with metabolic syndrome. This cross-sectional study involved 291 (95 men, 196 women) consecutive PLWHA. Anthropometry, blood pressure, fasting plasma glucose, and lipid profile values were determined. The prevalence rates of metabolic syndrome according to the ATP III, IDF, and JIS criteria were 12.7%, 17.2%, and 21.0%, respectively. Metabolic syndrome was significantly associated with female gender (all definitions), body mass index (all definitions), increasing age, and CD4 count (IDF definition). There was no significant association between metabolic syndrome and HAART. The concordance [kappa coefficient (κ)] between the definitions of metabolic syndrome varied between 0.583 and 0.878. The prevalence of metabolic syndrome varied with the criteria used and metabolic syndrome correlates with traditional cardiovascular risk factors rather than HAART-related factors.

  14. Clinical spectrum of Treacher Collins syndrome.

    PubMed

    Mehrotra, Divya; Hasan, Mahdi; Pandey, Rahul; Kumar, Sumit

    2011-01-01

    Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

  15. Outcome Measures for Clinical Trials in Down Syndrome.

    PubMed

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  16. Alström Syndrome: Genetics and Clinical Overview

    PubMed Central

    Marshall, Jan D; Maffei, Pietro; Collin, Gayle B; Naggert, Jürgen K

    2011-01-01

    Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background. Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. In general, ALMS1 gene defects include insertions, deletions, and nonsense mutations leading to protein truncations and found primarily in exons 8, 10 and 16. Multiple alternate splice forms exist. ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet-Biedl syndrome. Studies involving murine and cellular models of Alström syndrome have provided insight into the pathogenic mechanisms underlying obesity and type 2 diabetes, and other clinical problems. Ultimately, research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population. PMID:22043170

  17. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence.

    PubMed

    Ribeiro, Vivian F; Filho, Celso Ferreira; Valenti, Vitor E; Ferreira, Marcelo; de Abreu, Luiz Carlos; de Carvalho, Tatiana Dias; Xavier, Valdelias; de Oliveira Filho, JapyAngeli; Gregory, Pedro; Leão, Eliseth Ribeiro; Francisco, Natascha G; Ferreira, Celso

    2014-01-01

    Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome.

  18. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence

    PubMed Central

    2014-01-01

    Background Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. Method We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. Results The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. Conclusion The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome. PMID:24860618

  19. Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

    PubMed Central

    Chen, Erbao; Xu, Xiaojing

    2018-01-01

    Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extracolonic malignancies. HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task. Therefore, distinguishing between the HNPCC disorders is crucial for physicians as an approach to tailor different recommendations for patients and their at-risk family members according to the risks for colonic and extracolonic cancer associated with each syndrome. Identification of these potential patients through epidemiological characteristics and new genetic testing can estimate the individual risk, which informs appropriate cancer screening, surveillance, and/or treatment strategies. In the past three years, many appealing and important advances have been made in our understanding of the relationship between HNPCC and CRC-associated syndromes. The knowledge from the genetic profile of cancer syndromes and unique genotype-phenotype profiles in the different syndromes has changed our cognition. Therefore, this review presents and discusses HNPCC and several common nonpolyposis syndromes with respect to molecular phenotype, histopathologic features, and clinical presentation. PMID:29849630

  20. Astronaut Scott Parazynski in hatch of CCT during training

    NASA Technical Reports Server (NTRS)

    1994-01-01

    Astronaut Scott E. Parazynski, STS-66 mission specialist, poses near the hatchway of the crew compartment trainer (CCT) (out of frame) in JSC's Shuttle mockup and integration laboratory. Crew members were about to begin a rehearsal of procedures to be followed during the launch and entry phases of their flight. That rehearsal was followed by a training session on emergency egress procedures.

  1. Clinical aspects of the fragile X syndrome.

    PubMed

    Brown, W Ted

    2012-01-01

    Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.

  2. Increased PK11195-PET binding in normal-appearing white matter in clinically isolated syndrome.

    PubMed

    Giannetti, Paolo; Politis, Marios; Su, Paul; Turkheimer, Federico E; Malik, Omar; Keihaninejad, Shiva; Wu, Kit; Waldman, Adam; Reynolds, Richard; Nicholas, Richard; Piccini, Paola

    2015-01-01

    The most accurate predictor of the subsequent development of multiple sclerosis in clinically isolated syndrome is the presence of lesions at magnetic resonance imaging. We used in vivo positron emission tomography with (11)C-(R)-PK11195, a biomarker of activated microglia, to investigate the normal-appearing white matter and grey matter of subjects with clinically isolated syndrome to explore its role in the development of multiple sclerosis. Eighteen clinically isolated syndrome and eight healthy control subjects were recruited. Baseline assessment included: history, neurological examination, expanded disability status scale, magnetic resonance imaging and PK11195-positron emission tomography scans. All assessments except the PK11195-positron emission tomography scan were repeated over 2 years. SUPERPK methodology was used to measure the binding potential relative to the non-specific volume, BPND. We show a global increase of normal-appearing white matter PK11195 BPND in clinically isolated syndrome subjects compared with healthy controls (P = 0.014). Clinically isolated syndrome subjects with T2 magnetic resonance imaging lesions had higher PK11195 BPND in normal-appearing white matter (P = 0.009) and their normal-appearing white matter PK11195 BPND correlated with the Expanded Disability Status Scale (P = 0.007; r = 0.672). At 2 years those who developed dissemination in space or multiple sclerosis, had higher PK11195 BPND in normal-appearing white matter at baseline (P = 0.007 and P = 0.048, respectively). Central grey matter PK11195 BPND was increased in subjects with clinically isolated syndrome compared to healthy controls but no difference was found in cortical grey matter PK11195 BPND. Microglial activation in clinically isolated syndrome normal-appearing white matter is diffusely increased compared with healthy control subjects and is further increased in those who have magnetic resonance imaging lesions. Furthermore microglial activation in clinically

  3. Clinical Characteristics of Childhood Guillain-Barré Syndrome

    PubMed Central

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim

    2008-01-01

    Objectives To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. Methods All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Results Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Conclusions Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery. PMID:22359705

  4. Refeeding syndrome: clinical and nutritional relevance.

    PubMed

    Viana, Larissa de Andrade; Burgos, Maria Goretti Pessoa de Araújo; Silva, Rafaella de Andrade

    2012-01-01

    Feedback syndrome is characterized clinically by neurological alterations, respiratory symptoms, arrhythmias and heart failure few days after refeeding. It happens due to severe electrolyte changes, such as hypophosphatemia, hypomagnesemia and hypokalemia associated with metabolic abnormalities that may occur as a result of nutritional support (oral, enteral or parenteral) in severely malnourished patients. To evaluate its causes and the preventive dietary measures aiming to reduce the morbimortality. Was conducted literature review in SciELO, LILACS, Medline / PUBMED, Cochrane Library and government websites in Portuguese, English and Spanish. The survey was about the last 15 years, selecting the headings: refeeding syndrome, malnutrition, hypophosphatemia, hypokalemia, hypomagnesemia. The monitoring of metabolic parameters and electrolyte levels before starting nutritional support and periodically during feeding should be based on protocols and the duration of therapy. Patients at high risk and other metabolic complications should be followed closely, and depletion of minerals and electrolytes should be replaced before starting the diet. A multidisciplinary team of nutrition therapy can guide and educate other health professionals in prevention, diagnosis and treatment of the syndrome.

  5. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    PubMed

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  6. Exploring cell apoptosis and senescence to understand and treat cancer: an interview with Scott Lowe

    PubMed Central

    2015-01-01

    ABSTRACT Scott W. Lowe is currently principal investigator at the Memorial Sloan-Kettering Cancer Center. After beginning his studies in chemical engineering, he decided to take another path and became fascinated by biochemistry, genetics and molecular biology, which ultimately led to an interest in human disease, particularly cancer. During his PhD at the Massachusetts Institute of Technology (MIT), Scott had the opportunity to benefit from the exceptional mentorship of Earl Ruley, David Housman and Tyler Jacks, and contributed to elucidating how the p53 (TP53) tumor suppressor gene limits oncogenic transformation and modulates the cytotoxic response to conventional chemotherapy. This important work earned him a fellowship from the Cold Spring Harbor Laboratory, which helped to launch his independent career. Scott is now a leading scientist in the cancer field and his work has helped to shed light on mechanisms of cell apoptosis and senescence to better understand and treat cancer. In this interview, he talks about this incredible scientific journey. PMID:26512122

  7. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

    PubMed Central

    Greenhaw, G A; Hebert, A; Duke-Woodside, M E; Butler, I J; Hecht, J T; Cleaver, J E; Thomas, G H; Horton, W A

    1992-01-01

    Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair. Images Figure 1 Figure 1 Figure 2 Figure 3 PMID:1372469

  8. Rapid clinical deterioration in an individual with Down syndrome.

    PubMed

    Jacobs, Julia; Schwartz, Alison; McDougle, Christopher J; Skotko, Brian G

    2016-07-01

    A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work-up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. 78 FR 3479 - Notice of Public Meeting of Fort Scott Council

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-01-16

    ... PRESIDIO TRUST Notice of Public Meeting of Fort Scott Council AGENCY: The Presidio Trust. ACTION... be submitted. The Council was formed to advise the Presidio Trust (Trust) Executive Director on... on service and leadership development. SUPPLEMENTARY INFORMATION: The Trust Executive Director, in...

  10. Scott Morgan Johnson Middle School: Personalization Leads to Unlimited Success

    ERIC Educational Resources Information Center

    Principal Leadership, 2013

    2013-01-01

    The well-known lyrics may be "The Eyes of Texas Are Upon You," but at Scott Morgan Johnson Middle School in McKinney, TX, it's definitely the "eye of the tiger" that sets the bar for Tiger PRIDE (perseverance, respect, integrity, determination, and excellence). This article describes how those ideals have been infused…

  11. The Rare Painful Phenomena - Chronic Paroxysmal Hemicrania-tic Syndrome as a Clinically Isolated Syndrome of the Central Nervous System.

    PubMed

    Ljubisavljevic, Srdjan; Prazic, Ana; Lazarevic, Miodrag; Stojanov, Dragan; Savic, Dejan; Vojinovic, Slobadan

    2017-02-01

    The association of paroxysmal hemicrania with trigeminal neuralgia (TN) has been described and called paroxysmal hemicrania-tic syndrome (PH-tic). We report the case of a patient diagnosed as having chronic PH-tic (CPH-tic) syndrome as a clinically isolated syndrome of the central nervous system (CNS) (CIS).A forty year old woman was admitted to our hospital suffering from right facial pain for the last 2 years. The attacks were paroxysmal, neuralgiform, consisting of throb-like sensations, which developed spontaneously or were triggered by different stimuli in right facial (maxilar and mandibular) areas. Parallel with those, she felt a throbbing orbital and frontal pain with homolateral autonomic symptoms such as conjunctival injection, lacrimation, and the feeling that the ear on the same side was full. This pain lasted most often between 15 and 20 minutes. Beyond hemifacial hypoesthesia in the region of right maxilar and mandibular nerve, the other neurological finding was normal. Magnetic resonance imaging (MRI) study showed a T2-weighted multiple hyperintense paraventricular lesion and hyperintense lesion in the right trigeminal main sensory nucleus and root inlet, all of them being hypointense on T1-weighted image. All of these lesions were hypointense in gadolinium-enhanced T1-weighted images. Neurophysiological studies of trigeminal nerve (somatosensory evoked potentials and blink reflex) correlated with MRI described lesions. The patient's pain bouts were improved immediately after treatment with indomethacin, and were completely relieved with lamotrigine for a longer period. According to the actual McDonald's criteria, clinical state was defined as CIS which was clinically presented by CPH-tic syndrome.Even though it is a clinical rarity and its etiology is usually idiopathic, CPH-tic syndrome can also be symptomatic. When dealing with symptomatic cases, like the one described here, when causal therapy is not possible due to the nature of the primary

  12. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

    PubMed

    Romanelli Tavares, Vanessa L; Zechi-Ceide, Roseli M; Bertola, Debora R; Gordon, Christopher T; Ferreira, Simone G; Hsia, Gabriella S P; Yamamoto, Guilherme L; Ezquina, Suzana A M; Kokitsu-Nakata, Nancy M; Vendramini-Pittoli, Siulan; Freitas, Renato S; Souza, Josiane; Raposo-Amaral, Cesar A; Zatz, Mayana; Amiel, Jeanne; Guion-Almeida, Maria L; Passos-Bueno, Maria Rita

    2017-04-01

    Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  13. Prader-Willi Syndrome: Clinical Aspects

    PubMed Central

    Elena, Grechi; Bruna, Cammarata; Benedetta, Mariani; Stefania, Di Candia; Giuseppe, Chiumello

    2012-01-01

    Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy. PMID:23133744

  14. The Korsakoff syndrome: clinical aspects, psychology and treatment.

    PubMed

    Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane

    2009-01-01

    The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

  15. Astronaut Scott Parazynski during egress training

    NASA Image and Video Library

    1994-06-23

    S94-40083 (23 June 1994) --- Astronaut Scott E. Parazynski looks at fellow STS-66 mission specialist Joseph R. Tanner, (foreground) during a rehearsal of procedures to be followed during launch and entry phases of the their scheduled November flight. This rehearsal, held in the Crew Compartment Trainer (CCT) of the Johnson Space Center's (JSC) Shuttle Mockup and Integration Laboratory, was followed by a training session on emergency egress procedures. In November, Parazynski and Tanner will join three other NASA astronauts and a European mission specialist for a week and a half aboard the Space Shuttle Atlantis in Earth-orbit in support of the Atmospheric Laboratory for Applications and Science (ATLAS-3).

  16. Astronaut Scott Parazynski during egress training

    NASA Image and Video Library

    1994-06-23

    S94-40079 (23 June 1994) --- Astronaut Scott E. Parazynski looks at fellow STS-66 mission specialist Joseph R. Tanner, (partially visible in foreground) during a rehearsal of procedures to be followed during launch and entry phases of the their scheduled November flight. This rehearsal, held in the Crew Compartment Trainer (CCT) of the Johnson Space Center's (JSC) Shuttle Mockup and Integration Laboratory, was followed by a training session on emergency egress procedures. In November, Parazynski and Tanner will join three other NASA astronauts and a European mission specialist for a week and a half aboard the Space Shuttle Atlantis in Earth-orbit in support of the Atmospheric Laboratory for Applications and Science (ATLAS-3).

  17. Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

    PubMed Central

    Pérez-Andreu, Joaquín; Ray, Victor Glenn; Arribas, José María; Sánchez, Sergio Juan

    2015-01-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients. PMID:26106249

  18. The clinics of acute coronary syndrome

    PubMed Central

    Rastelli, Gianni

    2016-01-01

    Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt. PMID:27294087

  19. 78 FR 18633 - Notice of Public Meeting of Fort Scott Council

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-27

    ... PRESIDIO TRUST Notice of Public Meeting of Fort Scott Council AGENCY: The Presidio Trust. ACTION... advise the Executive Director of the Presidio Trust (Trust) on matters pertaining to the rehabilitation... development. SUPPLEMENTARY INFORMATION: The Trust's Executive Director, in consultation with the Chair of the...

  20. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

    PubMed

    Gripp, Karen W; Ennis, Sara; Napoli, Joseph

    2013-05-01

    Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech related issues, her development was normal. A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis. TP63 sequence and deletion/duplication analysis of all coding exons had a normal result, as did chromosome and SNP array analysis. Diagnostic exome analysis revealed a heterozygous nonsense mutation in KRT83 categorized as deleterious and associated with monilethrix. In addition, a homozygous missense variant of unknown clinical significance was reported in RIPK4. Using research based exome analysis, RIPK4 had just a few months prior been identified as pathogenic for Bartsocas-Papas syndrome. While the clinical diagnostic report implied the KRT83 mutation as a more likely cause for the patient's phenotype, clinical correlation, literature review and use of computerized mutation analysis programs allowed us to identify the homozygous RIPK4 (c.488G > A; p.Gly163Asp) mutation as the underlying pathogenic change. Consequently, we expand the phenotype of Bartsocas-Papas syndrome to an attenuated presentation resembling Hay-Wells syndrome, lacking lethality and pterygia. In contrast to the autosomal dominant Hay-Wells syndrome, Bartsocas-Papas syndrome is autosomal recessive, implying a 25% recurrence risk. Copyright © 2013 Wiley Periodicals, Inc.

  1. Simulated peak flows and water-surface profiles for Scott Creek near Sylva, North Carolina

    USGS Publications Warehouse

    Pope, B.F.

    1996-01-01

    Peak flows were simulated for Scott Creek, just upstream from Sylva, in Jackson County, North Carolina, in order to provide Jackson County officials with information that can be used to improve preparation for and response to flash floods along the reach of Scott Creek that flows through Sylva. A U.S. Geological Survey rainfall-runoff model was calibrated using observed rainfall and streamflow data collected from March 1994 through September 1995. Standard errors for calibration were 34 percent for runoff volumes and 21 percent for peak flows. The calibrated model was used to simulate peak flows resulting from syn- thetic rainfall amounts of 1.0, 2.5, 5.0, and 7.5 inches in 24-hour periods. For each rainfall amount, peak flows were simulated under low-, moderate-, and high-antecedent soil-moisture conditions, represented by selected 3-month periods of daily rainfall and evaporation record from nearby climatic-data measuring stations. Simulated peak flows ranged from 89 to 10,100 cubic feet per second. Profiles of water-surface elevations for selected observed and simu- lated peak flows were computed for the reach of Scott Creek that flows through Sylva, North Carolina. The profiles were computed using the U.S. Army Corps of Engineers HEC-2 Water Surface Profiles computer program and channel cross-section data collected by the Tennessee Valley Authority. The stage-discharge relation for Scott Creek at the simulation site has changed since the collection of the cross-section data. These changes, however, are such that the water-surface profiles presented in this report likely overestimate the true water-surface elevations at the simulation site for a given peak flow

  2. [Poland'syndrome and hand's malformations: about a clinic series of 37 patients].

    PubMed

    Foucras, L; Grolleau, J L; Chavoin, J P

    2005-04-01

    Poland's syndrome is a rare malformation which associates thoracic anomalies and anomalies of homolateral upper end. We wish to know the frequency of hand's malformations in this syndrome in our clinical experience. We have revised 37 patients who were seen initially for a thoracomammary anomaly. This clinical series from plastic surgery service of Toulouse has been revised to know the importance of hand's malformations. Hand's malformations in Poland's syndrome are rare in your study, they touch only 12% patients. We find only 4 malformations in 33 patients, four were lost. They were only females, we find three brachymesophalangies and a major form. Hand's malformations in Poland's syndrome are less frequent than classically. There is no parallelism between gravity of thoracic malformation and that one of upper end. In this series, we find only one case with syndactyly; originally, Poland's syndrome was named < Poland's syndactyly >. Finally, we think that we can talk about Poland's syndrome without anomaly of homolateral upper end, the major element is musculary agenesia of sternocostal pectoralis major. The search of homolateral upper end has to be systematic in front of suspicious of Poland's syndrome.

  3. Maintenance and Drainage Guidance for the Scott Base Transition, Antarctica

    DTIC Science & Technology

    2014-10-01

    Way Centennial , CO 80112-3938 Final Report Approved for public release; distribution is unlimited. Prepared for National Science Foundation...References Antarctic Support Contract (ASC). 2014. Scott Base Transition Construction and Maintenance Manual. IO-MAN-0003. Centennial , CO: Antarctic...Support Contract. Antarctic Support Contract (ASC). Forthcoming. Snow Road Construction and Maintenance Manual. IO-MAN-xx. Centennial , CO: Antarctic

  4. The role of scurvy in Scott's return from the South Pole.

    PubMed

    Butler, A R

    2013-01-01

    Scurvy, caused by lack of vitamin C, was a major problem for polar explorers. It may have contributed to the general ill-health of the members of Scott's polar party in 1912 but their deaths are more likely to have been caused by a combination of frostbite, malnutrition and hypothermia. Some have argued that Oates's war wound in particular suffered dehiscence caused by a lack of vitamin C, but there is little evidence to support this. At the time, many doctors in Britain overlooked the results of the experiments by Axel Holst and Theodor Frølich which showed the effects of nutritional deficiencies and continued to accept the view, championed by Sir Almroth Wright, that polar scurvy was due to ptomaine poisoning from tainted pemmican. Because of this, any advice given to Scott during his preparations would probably not have helped him minimise the effect of scurvy on the members of his party.

  5. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma.

    PubMed

    Wall, Christopher J; Lynch, Joan; Harris, Ian A; Richardson, Martin D; Brand, Caroline; Lowe, Adrian J; Sugrue, Michael

    2010-03-01

    Acute compartment syndrome is a serious and not uncommon complication of limb trauma. The condition is a surgical emergency, and is associated with significant morbidity if not managed appropriately. There is variation in management of acute limb compartment syndrome in Australia. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma were developed in accordance with Australian National Health and Medical Research Council recommendations. The guidelines were based on critically appraised literature evidence and the consensus opinion of a multidisciplinary team involved in trauma management who met in a nominal panel process. Recommendations were developed for key decision nodes in the patient care pathway, including methods of diagnosis in alert and unconscious patients, appropriate assessment of compartment pressure, timing and technique of fasciotomy, fasciotomy wound management, and prevention of compartment syndrome in patients with limb injuries. The recommendations were largely consensus based in the absence of well-designed clinical trial evidence. Clinical practice guidelines for the management of acute limb compartment syndrome following trauma have been developed that will support consistency in management and optimize patient health outcomes.

  6. Exploring cell apoptosis and senescence to understand and treat cancer: an interview with Scott Lowe.

    PubMed

    Lowe, Scott; Cifra, Alessandra

    2015-11-01

    Scott W. Lowe is currently principal investigator at the Memorial Sloan-Kettering Cancer Center. After beginning his studies in chemical engineering, he decided to take another path and became fascinated by biochemistry, genetics and molecular biology, which ultimately led to an interest in human disease, particularly cancer. During his PhD at the Massachusetts Institute of Technology (MIT), Scott had the opportunity to benefit from the exceptional mentorship of Earl Ruley, David Housman and Tyler Jacks, and contributed to elucidating how the p53 (TP53) tumor suppressor gene limits oncogenic transformation and modulates the cytotoxic response to conventional chemotherapy. This important work earned him a fellowship from the Cold Spring Harbor Laboratory, which helped to launch his independent career. Scott is now a leading scientist in the cancer field and his work has helped to shed light on mechanisms of cell apoptosis and senescence to better understand and treat cancer. In this interview, he talks about this incredible scientific journey. © 2015. Published by The Company of Biologists Ltd.

  7. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

    PubMed

    Singh, Michael N; Lacro, Ronald V

    2016-01-01

    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  8. [Clinical study of 12 cases with obstetric mirror syndrome].

    PubMed

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  9. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

    PubMed

    Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

    2016-02-01

    Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

  10. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    PubMed

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-03

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

  11. Clinical and microbiologic study of periodontitis associated with Kindler syndrome.

    PubMed

    Wiebe, Colin B; Penagos, Homero; Luong, Nancy; Slots, Jørgen; Epstein, Ervin; Siegel, Dawn; Häkkinen, Lari; Putnins, Edward E; Larjava, Hannu S

    2003-01-01

    Little is known about the onset and prevalence of periodontal disease in patients with the rare Kindler syndrome, a genodermatological disorder. This study investigated the level of clinical periodontal attachment in relation to age and presence of putative periodontopathogenic bacteria in individuals with Kindler syndrome. Eighteen individuals diagnosed with Kindler syndrome and 13 control subjects, aged 4 to 37 years, from rural Panama received a limited clinical periodontal examination. Subgingival samples were collected for identification of putative periodontal pathogens by polymerase chain reaction. Mild to severe gingivitis was a common finding in all adults of the study population. Seventy-two percent (13/18) of the Kindler patients and 46% (6/13) of the control subjects showed mild to severe periodontal disease (P = 0.001, chi-square test). The onset of periodontitis was earlier and the progression occurred at a faster rate in the Kindler group. There was a strong correlation (r = 0.83) between the level of attachment loss and age in the Kindler group and a weaker correlation (r = 0.66) in the control group. The appearance of gingival tissues suggested atypical periodontitis with spontaneous bleeding and fragile, often desquamative, gingiva. In periodontitis patients, Porphyromonas gingivallis and Diallster pneumosintes tended to occur more frequently in control individuals compared to those with Kindler syndrome. In the Kindler group, periodontitis had an onset in early teenage years and progressed more rapidly compared to non-Kindler individuals of the same geographic and ethnic group. Clinical and microbiological findings suggest atypical periodontitis in Kindler patients. We propose to include Kindler syndrome in the category of medical disorders predisposing to destructive periodontal disease.

  12. Biotechnological and clinical outcome of in vitro fertilization in non-obese patients with polycystic ovarian syndrome.

    PubMed

    Ciepiela, Przemyslaw; Baczkowski, Tomasz; Brelik, Pawel; Antonowicz, Anna; Safranow, Krzysztof; Kurzawa, Rafal

    2007-01-01

    Polycystic ovarian syndrome (PCOS) is a hormonal and metabolic disorder which poses problems with controlled ovarian stimulation (COH). It has been also postulated that PCOS patients have oocytes and embryos with poorer quality which affects IVF results. To verify IVF outcome in non-obese patients with PCOS. IVF results of 71 non-obese PCOS patients with 243 non-obese non-POCS patients, regardless of stimulation protocol, from years 2004-2006 were compared. Biotechnological results of PCOS patients in opposition to non-PCOS patients were respectively as follows: higher average number (10.19 vs. 7.61; p=0.001) and percentage (82.34% vs. 76.25%; p=0.025) of retrieved mature M2 oocytes; similar (77.01% vs. 76.75%; p=0.835) fertilization rate with higher average number of embryos (7.633 vs. 5.650 p=0.003); higher average number (4.830 vs. 3.304; p=0.001) and percentage (65.66% vs. 60.57%; p=0.006) of embryos with optimal Z1 and Z2 pronuclei pattern according to Scott; higher average number of class Aembryos (3.57 vs. 2.34; p=0.001). Similar number of embryos were transferred in both groups (2.408 vs. 2.485, p=0.552). Clinical results in PCOS and non-PCOS patients were as follows: similar stimulation duration (10.53 days vs. 10.31 days; p=0.639) with significant less gonadotropin total usage (1866.54 IU vs. 2276.18 IU; p=0.001). Also clinical pregnancy per transfer (57.75% vs. 41.98%; p=0.021) and delivery per transfer (45.07% vs. 32.51%; p=0.066) were more often in PCOS patients with comparable miscarriages (12,68% vs. 6,58%; p=0.131) and ectopic pregnancy (0.00% vs. 2.06%; p=0.591) rates, respectively. PCOS in non-obese patients is linked with good biotechnological and clinical IVF outcome.

  13. Thoracic outlet syndrome: a controversial clinical condition. Part 1: anatomy, and clinical examination/diagnosis

    PubMed Central

    Hooper, Troy L; Denton, Jeff; McGalliard, Michael K; Brismée, Jean-Michel; Sizer, Phillip S

    2010-01-01

    Thoracic outlet syndrome (TOS) is a frequently overlooked peripheral nerve compression or tension event that creates difficulties for the clinician regarding diagnosis and management. Investigators have categorized this condition as vascular versus neurogenic, where vascular TOS can be subcategorized as either arterial or venous and neurogenic TOS can subcategorized as either true or disputed. The thoracic outlet anatomical container presents with several key regional components, each capable of compromising the neurovascular structures coursing within. Bony and soft tissue abnormalities, along with mechanical dysfunctions, may contribute to neurovascular compromise. Diagnosing TOS can be challenging because the symptoms vary greatly amongst patients with the disorder, thus lending to other conditions including a double crush syndrome. A careful history and thorough clinical examination are the most important components in establishing the diagnosis of TOS. Specific clinical tests, whose accuracy has been documented, can be used to support a clinical diagnosis, especially when a cluster of positive tests are witnessed. PMID:21655389

  14. PEOPLE IN PHYSICS: Interview with Scott Durow, Software Engineer, Oxford

    NASA Astrophysics Data System (ADS)

    Burton, Conducted by Paul

    1998-05-01

    Scott Durow was educated at Bootham School, York. He studied Physics, Mathematics and Chemistry to A-level and went on to Nottingham University to read Medical Physics. After graduating from Nottingham he embarked on his present career as a Software Engineer based in Oxford. He is a musician in his spare time, as a member of a band and playing the French horn.

  15. Noonan syndrome: clinical features, diagnosis, and management guidelines.

    PubMed

    Romano, Alicia A; Allanson, Judith E; Dahlgren, Jovanna; Gelb, Bruce D; Hall, Bryan; Pierpont, Mary Ella; Roberts, Amy E; Robinson, Wanda; Takemoto, Clifford M; Noonan, Jacqueline A

    2010-10-01

    Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.

  16. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

    PubMed

    Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

    2015-01-20

    To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  17. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

  18. Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report

    ERIC Educational Resources Information Center

    What Works Clearinghouse, 2010

    2010-01-01

    "Scott Foresman-Addison Wesley Elementary Mathematics" is a core curriculum for students at all ability levels in prekindergarten through grade 6. The program supports students' understanding of key math concepts and skills and covers a range of mathematical content across grades. The What Works Clearinghouse (WWC) reviewed 12 studies on…

  19. Metabolic syndrome and its characteristics among obese patients attending an obesity clinic.

    PubMed

    Termizy, H M; Mafauzy, M

    2009-04-01

    The increased prevalence of metabolic syndrome worldwide is closely related to the rising obesity epidemic. The objectives of the study were to determine the prevalence and identify the associated and prognostic factors that influence the risk of metabolic syndrome among obese patients attending the Obesity Clinic at Hospital Universiti Sains Malaysia. A study was conducted involving 102 obese persons who attended the Obesity Clinic from January 1 to December 31, 2005. Metabolic syndrome was defined according to the International Diabetes Federation criteria. The overall prevalence of metabolic syndrome among obese patients was 40.2 percent. The prevalence was higher in females (43.7 percent) than in males (32.3 percent). The prevalence of metabolic syndrome was noted to increase with increasing body mass index class, from class 1 to class 2. However, the prevalence was lower in obesity class 3. The prevalence of metabolic comorbidities of raised blood pressure, reduced high density lipoprotein, high triglyceride and raised fasting blood glucose was 42, 40, 36 and 17 percent, respectively. A quarter of obese patients in this study had no other comorbidity. Based on logistic regression multivariable analysis, age was the only significant associated factor that influenced the risk of having metabolic syndrome. The prevalence of metabolic syndrome was high and the highest comorbidity was high blood pressure. Age was the only significant risk factor of having this syndrome.

  20. Expanding the mutation and clinical spectrum of Roberts syndrome.

    PubMed

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

  1. Scott Kelly Talks About His Year in Space

    NASA Image and Video Library

    2016-05-25

    An agency wide All-Hands event on May 25 at NASA Headquarters featured Deputy Administrator Dava Newman and retired NASA astronaut Scott Kelly, reflecting on Kelly’s one-year mission aboard the International Space Station. The event, shown on NASA TV and the agency’s website, also featured video highlights of the mission and questions from employees watching at NASA centers around the country. During the unprecedented ISS mission, Kelly and Mikhail Kornienko of Roscosmos collected critical data on how the human body responds to long duration space flight.

  2. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

    PubMed

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

    2017-03-01

    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  3. Orson Scott Card's "Ender and Bean": The Exceptional Child as Hero

    ERIC Educational Resources Information Center

    Doyle, Christine

    2004-01-01

    Orson Scott Card's school stories in outer space, "Ender's Game" and "Ender's Shadow," purportedly occur at the same time and tell the "same" story, but from the perspectives of two different child protagonists. Scenes in "Ender's Shadow" even reproduce text from "Ender's Game." Nevertheless, 14 years elapsed between the publications of the two…

  4. A Literary and Linguistic Analysis of Scott O'Dell's "The Captive".

    ERIC Educational Resources Information Center

    Stewig, John Warren

    This paper carefully examines the literary elements Scott O'Dell uses in his children's novel "The Captive," that so successfully engage even a reluctant reader. The paper explores the writer's style and subtle use of detail and foreshadowing. Quoting specific examples, the paper points out O'Dell's imaginative syntax and his ability to…

  5. National data elements for the clinical management of acute coronary syndromes.

    PubMed

    Chew, Derek P B; Allan, Roger M; Aroney, Constantine N; Sheerin, Noella J

    2005-05-02

    Patients with acute coronary syndromes represent a clinically diverse group and their care remains heterogeneous. These patients account for a significant burden of morbidity and mortality in Australia. Optimal patient outcomes depend on rapid diagnosis, accurate risk stratification and the effective implementation of proven therapies, as advocated by clinical guidelines. The challenge is in effectively applying evidence in clinical practice. Objectivity and standardised quantification of clinical practice are essential in understanding the evidence-practice gap. Observational registries are key to understanding the link between evidence-based medicine, clinical practice and patient outcome. Data elements for monitoring clinical management of patients with acute coronary syndromes have been adapted from internationally accepted definitions and incorporated into the National Health Data Dictionary, the national standard for health data definitions in Australia. Widespread use of these data elements will assist in the local development of "quality-of-care" initiatives and performance indicators, facilitate collaboration in cardiovascular outcomes research, and aid in the development of electronic data collection methods.

  6. Astronauts Scott Carpenter and Walter Schirra completes water egress test

    NASA Image and Video Library

    1962-01-01

    S62-01355 (1962) --- Project Mercury astronauts M. Scott Carpenter, prime pilot of the Mercury-Atlas 7 (MA-7) spaceflight, prepares to go through a water egress test. Astronaut Walter M. Schirra (back to camera), the backup MA-7 pilot is also present. Carpenter and Schirra are in the Mercury pressure suit, without the helmet. Behind them is an inflated life raft. Photo credit: NASA

  7. 78 FR 60929 - Notice of Public Meeting of the Fort Scott Council

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-02

    ... PRESIDIO TRUST Notice of Public Meeting of the Fort Scott Council AGENCY: The Presidio Trust... formed to advise the Executive Director of the Presidio Trust (Trust) on matters pertaining to the... development. SUPPLEMENTARY INFORMATION: The Trust's Executive Director, in consultation with the Chair of the...

  8. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    PubMed Central

    2012-01-01

    Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome. PMID:23186382

  9. Clinical picture and treatment implication in a child with Capgras syndrome: a case report.

    PubMed

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-11-27

    Capgras syndrome is a delusional misidentification syndrome characterized by the patient's belief that his or her relatives have been replaced by impostors. Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

  10. Gorlin-Goltz syndrome in a child: case report and clinical review.

    PubMed

    Snoeckx, A; Vanhoenacker, F M; Verhaert, K; Chappelle, K; Parizel, P M

    2008-01-01

    Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.

  11. Teaching One Way and Testing Another: An Interview with Scott Howell

    ERIC Educational Resources Information Center

    Morrison, James L.; Howell, Scott

    2007-01-01

    Editor-in-Chief James L. Morrison interviews Scott Howell, the co-editor of a three-volume book series entitled "Online Assessment and Measurement" that was published in 2006 by IDEA Group. In discussing his own research, Howell first highlights the value of test blueprints as a valuable tool for ensuring an effective alignment of…

  12. Insufficient sleep syndrome: An unrecognized but important clinical entity.

    PubMed

    Kohyama, Jun; Anzai, Yuki; Ono, Makoto; Kishino, Ai; Tamanuki, Keita; Takada, Kazuma; Inoue, Kento; Horiuchi, Maho; Hatai, Yoshiho

    2018-04-01

    A sleep clinic for adults and children was established in the Tokyo Bay Urayasu Ichikawa Medical Centre, in August 2012. Given that few sleep clinics are available in Japan specifically for children, this clinic provides the opportunity to provide data on child patients with sleep problems. Records of patients who visited the sleep clinic at the Tokyo Bay Urayasu Ichikawa Medical Centre aged ≤20 years at the first visit were retrospectively examined, along with the initial and final diagnoses. Of 2,157 patients who visited the sleep clinic at Tokyo Bay Urayasu Ichikawa Medical Centre between August 2012 and March 2017, 181 were ≤20 years old. In these 181 patients, the most frequent final diagnosis was insufficient sleep syndrome (ISS), n = 56, followed by circadian rhythm sleep-wake disorder, n = 28; insomnia, n = 28; and sleep-related movement disorder, n = 15. Insufficient sleep produces various brain dysfunctions in both adults and children, and is associated with behavioral, cognitive and physical problems, as well as with atypical early development. Insufficient sleep has also been reported to cause obesity. Insufficient sleep-induced obesity is often associated with the occurrence of metabolic syndrome. More effort is needed to ensure that children are receiving sufficient sleep. © 2018 Japan Pediatric Society.

  13. Psychologists' Clinical Practices in Assessing Dementia in Individuals with Down Syndrome

    ERIC Educational Resources Information Center

    Auty, Ellen; Scior, Katrina

    2008-01-01

    There are now ample guidelines for the assessment and diagnosis of possible dementia in individuals with intellectual disabilities (ID) and Down syndrome. However, little is known about their implementation in clinical practice. This study set out to examine the clinical practice of one key professional group, namely clinical psychologists. A…

  14. [Secondary cardiovascular prevention after acute coronary syndrome in clinical practice].

    PubMed

    Colivicchi, Furio; Di Roma, Angelo; Uguccioni, Massimo; Scotti, Emilio; Ammirati, Fabrizio; Arcas, Marcello; Avallone, Aniello; Bonaccorso, Orazio; Germanò, Giuseppe; Letizia, Claudio; Manfellotto, Dario; Minardi, Giovanni; Pristipino, Christian; D'Amore, Francesco; Di Veroli, Claudio; Fierro, Aldo; Pastorellio, Ruggero; Tozzi, Quinto; Tubaro, Marco; Santini, Massimo; Angelico, Francesco; Azzolini, Paolo; Bellasi, Antonio; Brocco, Paola; Calò, Leonardo; Cerquetani, Elena; De Biase, Luciano; Di Napoli, Mauro; Galati, Alfonso; Gallieni, Maurizio; Jesi, Anna Patrizia; Lombardo, Antonella; Loricchio, Vincenzo; Menghini, Fabio; Mezzanotte, Roberto; Minutolos, Roberto; Mocini, David; Patti, Giuseppe; Patrizi, Roberto; Pajes, Giuseppe; Pulignano, Giovanni; Ricci, Renato Pietro; Ricci, Roberto; Sardella, Gennaro; Strano, Stefano; Terracina, David; Testa, Marco; Tomai, Fabrizio; Volpes, Roberto; Volterrani, Maurizio

    2010-05-01

    Secondary prevention after acute coronary syndromes should be aimed at reducing the risk of further adverse cardiovascular events, thereby improving quality of life, and lengthening survival. Despite compelling evidence from large randomized controlled trials, secondary prevention is not fully implemented in most cases after hospitalization for acute coronary syndrome. The Lazio Region (Italy) has about 5.3 million inhabitants (9% of the entire Italian population). Every year about 11 000 patients are admitted for acute coronary syndrome in hospitals of the Lazio Region. Most of these patients receive state-of-the art acute medical and interventional care during hospitalization. However, observational data suggest that after discharge acute coronary syndrome patients are neither properly followed nor receive all evidence-based treatments. This consensus document has been developed by 11 Scientific Societies of Cardiovascular and Internal Medicine in order develop a sustainable and effective clinical approach for secondary cardiovascular prevention after acute coronary syndrome in the local scenario of the Lazio Region. An evidence-based simplified decalogue for secondary cardiovascular prevention is proposed as the cornerstone of clinical intervention, taking into account regional laws and relative shortage of resources. The following appropriate interventions should be consistently applied: smoking cessation, blood pressure control (blood pressure < 130/80 mmHg), optimal lipid management (LDL cholesterol < 80 mmHg), weight and diabetes management, promotion of physical activity and rehabilitation, correct use of antiplatelet agents, beta-blockers, renin-angiotensin-aldosterone system blockers.

  15. Update on clinically isolated syndrome.

    PubMed

    Thouvenot, Éric

    2015-04-01

    Optic neuritis, myelitis and brainstem syndrome accompanied by a symptomatic MRI T2 or FLAIR hyperintensity and T1 hypointensity are highly suggestive of multiple sclerosis (MS) in young adults. They are called "clinically isolated syndrome" (CIS) and correspond to the typical first multiple sclerosis (MS) episode, especially when associated with other asymptomatic demyelinating lesions, without clinical, radiological and immunological sign of differential diagnosis. After a CIS, the delay of apparition of a relapse, which corresponds to the conversion to clinically definite MS (CDMS), varies from several months to more than 10 years (10-15% of cases, generally called benign RRMS). This delay is generally associated with the number and location of demyelinating lesions of the brain and spinal cord and the results of CSF analysis. Several studies comparing different MRI criteria for dissemination in space and dissemination in time of demyelinating lesions, two hallmarks of MS, provided enough substantial data to update diagnostic criteria for MS after a CIS. In the last revision of the McDonald's criteria in 2010, diagnostic criteria were simplified and now the diagnosis can be made by a single initial scan that proves the presence of active asymptomatic lesions (with gadolinium enhancement) and of unenhanced lesions. However, time to conversion remains highly unpredictable for a given patient and CIS can remain isolated, especially for idiopathic unilateral optic neuritis or myelitis. Univariate analyses of clinical, radiological, biological or electrophysiological characteristics of CIS patients in small series identified numerous risk factors of rapid conversion to MS. However, large series of CIS patients analyzing several characteristics of CIS patients and the influence of disease modifying therapies brought important information about the risk of CDMS or RRMS over up to 20 years of follow-up. They confirmed the importance of the initial MRI pattern of

  16. Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report. Updated

    ERIC Educational Resources Information Center

    What Works Clearinghouse, 2013

    2013-01-01

    "Scott Foresman-Addison Wesley Elementary Mathematics" is a core mathematics curriculum for students in prekindergarten through grade 6. The program aims to improve students' understanding of key math concepts through problem-solving instruction, hands-on activities, and math problems that involve reading and writing. The curriculum…

  17. Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.

    PubMed

    Bellon-Harn, Monica L

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated with PWS. Case studies can provide information to understand relationships between phenotypic characteristics and genetic inheritance, which can in turn lead to effective clinical management. The purpose of this case study was to describe the characteristics of a child with PWS due to maternal uniparental disomy inheritance pattern and to describe clinical management and treatment outcomes. The reader will obtain information about: (1) the genetic inheritance patterns and clinical characteristics of Prader-Willi Syndrome, (2) genotypic/phenotypic relationships specific to Prader-Willi Syndrome, and (3) clinical implications, management, and outcomes in a case description of a child with PWS due to maternal uniparental disomy inheritance pattern.

  18. Q & A with Ed Tech Leaders: Interview with Scott McLeod

    ERIC Educational Resources Information Center

    Shaughnessy, Michael F.

    2014-01-01

    Scott McLeod is recognized as one of the nation's leading experts on K-12 school technology leadership issues. After 14 years as an Educational Leadership professor, Dr. McLeod currently serves as the Director of Innovation for Prairie Lakes Area Education Agency in Iowa. He also is the Founding Director of the UCEA Center for the Advanced Study…

  19. Scott and Doi conduct tool evaluations during second EVA of STS-87

    NASA Image and Video Library

    1997-12-03

    STS087-341-036 (3 Dec. 1997) --- Backdropped against a dark Earth and a light blue horizon, astronaut Takao Doi (right), international mission specialist representing Japan's National Space Development Agency (NASDA), works with a crane while astronaut Winston E. Scott looks on. This second extravehicular activity (EVA) of the mission continued the evaluation of techniques and hardware to be used in constructing the International Space Station (ISS). Near Scott can be seen the representation of a small Orbital Replacement Unit (ORU) in the grasp of the 156-pound crane operated by Doi. A similar crane could be used to transport various sized ORU’s from translation carts on the exterior of the ISS to various worksites on the truss structure. This view was captured, on 35mm film, by a crew mate in the shirt sleeve environment of the Space Shuttle Columbia's cabin. The SPARTAN-201 satellite is in its stowed position at frame center.

  20. Astronaut Scott Carpenter - Medal Presentation - Dr. James Webb Post Mercury-Atlas (MA-7)

    NASA Image and Video Library

    1962-01-01

    S62-04114 (1962) --- Astronaut M. Scott Carpenter, pilot of the Mercury-Atlas 7 (MA-7) mission, receives the NASA Distinguished Service Medal from NASA Adminstrator James E. Webb during ceremonies at Cape Canaveral, Florida. Photo credit: NASA

  1. Clinical presentation of Churg-Strauss syndrome in children: A 12-year-old-boy with ANCA-negative Churg-Strauss syndrome.

    PubMed

    Razenberg, Femke G E M; Heynens, Jan W C M; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C; de Blic, Jacques; Rosias, Philippe P R

    2012-01-01

    Churg-Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg-Strauss syndrome. The propositus included, 50 cases of childhood Churg-Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg-Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome.

  2. Fort Scott Lake Cultural Resource Study. Part 2. Historical and Architectural Field Survey of a Portion of Fort Scott Lake Project, Bourbon County, Kansas

    DTIC Science & Technology

    1989-01-01

    Susan Donahue. Maps and graphs were completed by Ms. Morgan and Ms. Donahue, and David Higginbotham. LeAnne Baird , Kathy Morgan, Allyn Mateu, Marian ...Consultants, Inc. ELECTE JAN 08 1990 By:* S LeAnne Baird , Principal Investigator 1989 Approved forPubic rM16=61 HISTORICAL AND ARCHITECTURAL FIELD...SURVEY OF A PORTION OF FORT SCOTT LAKE PROJECT, BOURBON COUNTY, KANSAS LeAnne Baird , Principal Investigator S. Alan Skinner, Project Director with

  3. 'Refeeding syndrome' in a Kuwaiti child: clinical diagnosis and management.

    PubMed

    Al Sharkawy, Ibrahim; Ramadan, Dina; El-Tantawy, Amira

    2010-01-01

    To report a case of refeeding syndrome in a Kuwaiti child, its clinical presentation and management. A 13-month-old Kuwaiti boy presented with acute severe malnutrition in the form of marasmic kwashiorkor. On admission, blood sugar and serum electrolytes were normal but on the 3rd day he developed typical biochemical features of refeeding syndrome in the form of hyperglycemia, severe hypophosphatemia, hypokalemia, hypocalcemia and hypomagnesemia. The child then received treatment appropriate for refeeding syndrome in the form of lower calorie intake with gradual increase, as well as supplementation of electrolytes, thiamine and vitamins and he eventually made a safe recovery. This case showed that during rehabilitation of a malnourished child, a severe potentially lethal electrolyte disturbance (refeeding syndrome) can occur. Careful monitoring of electrolytes before and during the refeeding phase was needed and helped to detect this syndrome early. We suggest that slow and gradual calorie increase in the 'at-risk' patient can help prevent its occurrence. Copyright (c) 2010 S. Karger AG, Basel.

  4. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

    PubMed

    Yang, Yan-ling; Sun, Fang; Zhang, Yao; Qian, Ning; Yuan, Yun; Wang, Zhao-xia; Qi, Yu; Xiao, Jiang-xi; Wang, Xiao-ying; Qi, Zhao-yue; Zhang, Yue-hua; Jiang, Yu-wu; Bao, Xin-hua; Qin, Jiong; Wu, Xi-ru

    2006-03-05

    Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood and presents with a clinically heterogeneous variety of neuromuscular and non-neuromuscular disorders. It can result from the inheritance of mutations in either nuclear or mitochondrial DNA. In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients. Sixty-five unrelated cases (35 men and 30 women) who were hospitalized in the past 12 years were reviewed. Diagnosis was based on both the clinical presentation and the characteristic neuropathologic findings of bilateral symmetric necrotizing lesions in the basal ganglia and brain stem as detected using cranial computed tomography (CT) scan or magnetic resonance imaging (MRI). The differential diagnosis of organic acidurias and fatty acid beta-oxidation defects were performed. Specific point mutations and deletions in mitochondrial DNA (T8993G, T8993C, T9176C, A8344G, A3243G) were screened by PCR-restriction analysis and Southern blot. The SURF1 gene was sequenced. Skeletal muscle biopsies were performed in 17 (26.2%) of the patients. The diagnosis was confirmed by autopsy in 6 (9.2%) patients. The patients had various forms of metabolic encephalomyopathy. Fifty-nine (90.8%) of the patients had the typical neuroradiological features of Leigh syndrome, including symmetrical necrotizing lesions scattered within the basal ganglia, thalamus and brain stem. Twenty (30.8%) patients were confirmed by genetic, biochemical analysis and autopsy. Specific point mutations in mitochondrial DNA were found in 5 cases (7.7%). Of these, the A8344G mutation was detected in 2 patients. The T8993G, T8993C, and A3243G point mutations were identified in 3 other patients, respectively. SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) families by DNA sequencing. A G604C mutation was

  5. Alport syndrome--insights from basic and clinical research.

    PubMed

    Kruegel, Jenny; Rubel, Diana; Gross, Oliver

    2013-03-01

    In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A few years after his death, this group of symptoms was renamed Alport syndrome. To this day, Alport syndrome still inevitably leads to end-stage renal disease and the need for renal replacement therapy, starting in young adulthood. During the past two decades, research into this rare disease has focused on the effects of mutations in collagen type IV and the role of changes in podocytes and the glomerular basement membrane that lead to early kidney fibrosis. Animal models of Alport syndrome also demonstrate the pathogenetic importance of interactions between podocytes and the extracellular matrix. Such models might also help researchers to answer basic questions about podocyte function and the development of fibrosis, and to develop new therapeutic approaches that might be of use in other kidney diseases. In this Review, we discuss the latest basic and clinical research on Alport syndrome, focusing on the roles of podocyte pathology and the extracellular matrix. We also highlight early diagnosis and treatment options for young patients with this disorder.

  6. STS-125 CDR Scott Altman replaces LiOH Cannisters on the Shuttle Atlantis Middeck

    NASA Image and Video Library

    2009-05-18

    S125-E-011450 (18 May 2009) --- Astronaut Scott Altman, STS-125 commander, works with lithium hydroxide (LiOH) canisters from beneath Space Shuttle Atlantis' middeck during flight day eight activities.

  7. STS-125 CDR Scott Altman replaces LiOH Cannisters on the Shuttle Atlantis Middeck

    NASA Image and Video Library

    2009-05-18

    S125-E-011454 (18 May 2009) --- Astronaut Scott Altman, STS-125 commander, works with lithium hydroxide (LiOH) canisters from beneath Space Shuttle Atlantis' middeck during flight day eight activities.

  8. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  9. Installation Development Environmental Assessment at Scott Air Force Base, Illinois

    DTIC Science & Technology

    2007-05-01

    NHRP National Register of Historic Places O&M Operations and Maintenance POL petroleum oil lubricant PSD Prevention of Significant...Bellville and Shiloh are located to the west, Mascoutah is located to the southeast and O’Fallon is located to the northwest. Scott AFB is headquarters...associated with the explosive ordnance disposal pit in the southeast corner of the Base. 100-Year Floodplain (464 acres). It is USAF policy to avoid

  10. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    PubMed

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  11. [Network clusters of symptoms as elementary syndromes of psychopathology: implications for clinical practice].

    PubMed

    Goekoop, R; Goekoop, J G

    2016-01-01

    In a recent publication we reported the existence of around 11 (to 15) 'elementary syndromes' that may combine in various ways, rather like 'building blocks', to explain the wide range of psychiatric symptoms. 'Bridge symptoms' seem to be responsible both for combining large sets of symptoms into elementary syndromes and for combining the various elementary syndromes to form one globally connected network structure. To discuss the implication of these findings for clinical practice. We performed a network analysis of symptom scores. Elementary syndromes provide a massive simplification of the description of psychiatric disease. Instead of the more than 300 categories in DSM-5, we now need to consider only a handful of elementary syndromes and personality domains. This modular representation of psychiatric illnesses allows us to make a complete, systematic and efficient assessment of patients and a systematic review of treatment options. Clinicians, patients, managerial staff and insurance companies can verify whether symptom reduction is taking place in the most important domains of psychopathology. Unlike classic multidimensional methods of disease description, network models of psychopathology can be used to explain comorbidity patterns, predict the clinical course of psychopathology and to designate primary targets for therapeutic interventions. A network view on psychopathology could significantly improve everyday clinical practice.

  12. Drug-induced Brugada syndrome: Clinical characteristics and risk factors.

    PubMed

    Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami

    2016-05-01

    Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The purpose of this study was to identify clinical and ECG risk markers for drug-induced Brugada syndrome. Reports of drug-induced Brugada syndrome recounted by an international database (http://www.brugadadrugs.org) were reviewed to define characteristics that identify patients prone to developing this complication. For each patient with drug-induced Brugada syndrome who had an ECG recorded in the absence of drugs, we included 5 healthy controls matched by gender and age. All ECGs were evaluated for Brugada-like abnormalities. Seventy-four cases of drug-induced Brugada syndrome from noncardiac medications were identified: 77% were male, and drug toxicity was involved in 46%. Drug-induced Brugada syndrome from oral medications generally occurred weeks after the initiation of therapy. Mortality was 13%. By definition, all cases had a type I Brugada pattern during drug therapy. Nevertheless, their ECG in the absence of drugs was more frequently abnormal than the ECG of controls (56% vs 33%, P = .04). Drug-induced Brugada syndrome from noncardiac drugs occurs predominantly in adult males, is frequently due to drug toxicity, and occurs late after the onset of therapy. Minor changes are frequently noticeable on baseline ECG, but screening is impractical because of a prohibitive false-positive rate. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  13. An overview of clinical tools used to assess neonatal abstinence syndrome.

    PubMed

    Orlando, Susan

    2014-01-01

    Several clinical tools have been developed to quantify the severity of withdrawal signs and symptoms exhibited by infants born to substance-using mothers. Scores from the systematic assessments are used to guide treatment of infants with moderate to severe clinical signs. This article provides an overview of published assessment tools developed for infants with neonatal abstinence syndrome. Nurses caring for infants at risk for neonatal abstinence syndrome should be knowledgeable about the tools used to evaluate these infants and guide their treatment. The ideal assessment tool should be published and include item definitions and a protocol for administering the tool. Nurses need education and training to achieve competency and interobserver reliability in the use of a selected tool. Tool-specific materials should be used to standardize training and improve accuracy in assessments. Competent and knowledgeable nurses play a critical role in improving outcomes for infants with neonatal abstinence syndrome.

  14. Portal vascular anomalies in Down syndrome: spectrum of clinical presentation and management approach.

    PubMed

    Golewale, Nazar; Paltiel, Harriet J; Fishman, Steven J; Alomari, Ahmad I

    2010-08-01

    The occurrence of portal vascular anomalies in Down syndrome has been sporadically reported in the literature. These rare disorders have a wide spectrum of anatomical and clinical presentations. The aim of this communication was to describe the clinical course, imaging features, and management approaches in patients with this association. We conducted a comprehensive search of the databases of the Vascular Anomalies Center and the Department of Radiology at Children's Hospital Boston for patients with Down syndrome and portal vascular anomalies. Medical records and imaging studies of varying modalities were reviewed. Three children with Down syndrome and portal anomalies (portosystemic shunt, simple arterioportal shunt, complex arterioportal shunt) were managed at our institution. The portosystemic shunt was clinically insignificant and resolved without any intervention. The simple arterioportal shunt was successfully treated with embolization. The complex arterioportal shunt was associated with major congenital cardiac defects and the child ultimately expired despite a decrease in the arterioportal shunting after embolization. Three is a wide spectrum of clinical and anatomical features of portal vascular shunts in Down syndrome. The management approach should be tailored based on the severity of symptoms. Percutaneous embolization can offer a safe, effective, and minimally invasive alternative to the surgical approach in selective cases. Copyright 2010 Elsevier Inc. All rights reserved.

  15. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

    PubMed

    Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L C; Lachman, Ralph S; Rimoin, David L; Cohn, Daniel H; Krakow, Deborah; Robertson, Stephen P

    2007-02-01

    Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied. Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated. The clinical signs most frequently associated with a FLNB mutation are the presence of supernumerary carpal and tarsal bones and short, broad, spatulate distal phalanges, particularly of the thumb. All individuals with Larsen syndrome-associated FLNB mutations are heterozygous for either missense or small inframe deletions. Three mutations are recurrent, with one mutation, 5071G-->A, observed in 6 of 20 subjects. The distribution of mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome. These findings collectively define autosomal dominant Larsen syndrome and demonstrate clustering of causative mutations in FLNB.

  16. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Morimoto, Y; Kuwano, A.; Kuwajima, K.

    1994-09-01

    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient withmore » distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.« less

  17. Sweet's syndrome mimicking alkali burn: a clinical conundrum.

    PubMed

    O'Halloran, E; Stewart, N; Vetrichevvel, T P; Rea, S; Wood, F

    2013-06-01

    Sweet's syndrome or acute febrile neutrophilic dermatosis presents most commonly on the hands, upper extremities and face. The disease is of clinical relevance to surgeons as it could mimic an infective aetiology but debridement negates such wounds. A 34-year-old man was referred from a peripheral hospital with suspected infected alkali burn to the hands. A builder by profession, he had been working outdoors with possible exposure to cement-concrete mix, 5 days previously. At presentation, the dorsal aspect of the thenar eminence appeared erythematous and oedematous, with pustules and blisters with central ulcerations. Haematological investigation revealed a neutrophilic leucocytosis and raised CRP. On the second day of admission the patient became febrile. He was treated with analgesia, IV Tazocin (Pipperacillin and Tazobactam) and the wounds were surgically debrided and covered using autologous cell therapy via the Recell kit. Two days following surgery, microbiology of wound swabs, tissue samples and blood cultures yielded no growth. The wound was noted to be extending beyond the zone of injury and a new area of erythema was evident on the neck. A diagnosis of idiopathic acral Sweet's syndrome was confirmed when histopathological investigation showed a moderate inflammatory cell infiltrate in the dermis. A rapid response to oral corticosteroids was clinically evident after 48 h and the lesions were completely healed at 4 weeks follow-up. We recommend thorough clinical history and examination, systematic wound review, tissue biopsy and culture in conjunction with dermatology opinion in cases of suspected Sweet's syndrome. Surgical debridement should be avoided as it has the potential to negate such wounds secondary to pathergy phenomenon. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  18. A pragmatic evidence-based clinical management algorithm for burning mouth syndrome.

    PubMed

    Kim, Yohanan; Yoo, Timothy; Han, Peter; Liu, Yuan; Inman, Jared C

    2018-04-01

    Burning mouth syndrome is a poorly understood disease process with no current standard of treatment. The goal of this article is to provide an evidence-based, practical, clinical algorithm as a guideline for the treatment of burning mouth syndrome. Using available evidence and clinical experience, a multi-step management algorithm was developed. A retrospective cohort study was then performed, following STROBE statement guidelines, comparing outcomes of patients who were managed using the algorithm and those who were managed without. Forty-seven patients were included in the study, with 21 (45%) managed using the algorithm and 26 (55%) managed without. The mean age overall was 60.4 ±16.5 years, and most patients (39, 83%) were female. Cohorts showed no statistical difference in age, sex, overall follow-up time, dysgeusia, geographic tongue, or psychiatric disorder; xerostomia, however, was significantly different, skewed toward the algorithm group. Significantly more non-algorithm patients did not continue care (69% vs. 29%, p =0.001). The odds ratio of not continuing care for the non-algorithm group compared to the algorithm group was 5.6 [1.6, 19.8]. Improvement in pain was significantly more likely in the algorithm group ( p =0.001), with an odds ratio of 27.5 [3.1, 242.0]. We present a basic clinical management algorithm for burning mouth syndrome which may increase the likelihood of pain improvement and patient follow-up. Key words: Burning mouth syndrome, burning tongue, glossodynia, oral pain, oral burning, therapy, treatment.

  19. Abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome.

    PubMed

    Montaño-Loza, Aldo J; Crispín-Acuña, José Carlos; Remes-Troche, José María; Uribe, Misael

    2007-01-01

    Patients with primary Sjögren's syndrome may present liver involvement. Our goals were to establish the prevalence of abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome and correlate their presence with other clinical and laboratory features. Ninety-five patients with diagnosis of primary Sjögren's syndrome were studied. Data on gender, age, clinical features, liver biochemistries, tests of inflammation and autoimmunity, and concomitant diseases were collected. Forty-two patients (44%) had abnormal hepatic biochemistries, and of these 19 patients (20%) had clinical liver disease. Patients with abnormal hepatic biochemistries had higher frequency of autoimmune hypotiroidism, arthritis, vasculitis, Raynaud's phenomenon, higher sedimentation rate,and higher frequency of antinuclear and antimitochondrial antibodies than patients with normal liver biochemistries (P < 0.05 for each). Patients with clinical liver disease had higher frequency of arthritis, vasculitis, and higher frequency of antimitochondrial antibodies than patients without clinical liver disease (P < 0.05 for each). Twenty-one patients had diagnosis of a specific liver disease, such as hepatitis C virus infection (n = 11), autoimmune hepatitis (n = 2), primary biliary cirrhosis (n =5),nonalcoholic fatty liver disease (n = 2), and hepatitis B virus infection (n = 1). In half of patients with liver involvement a definitive cause could not be identified. Liver involvement is frequently found in patients with primary Sjögren's syndrome, and its presence is associated with clinical features of systemic disease, and markers of autoimmunity and inflammation. There may be a subgroup of patients with liver involvement secondary to primary Sjögren's syndrome.

  20. Clinical and molecular features of Joubert syndrome and related disorders

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

    Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

  1. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

    PubMed Central

    Fernandez, Bridget A.; Scherer, Stephen W.

    2017-01-01

    Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings. The traditional definition of syndromic ASD is a disorder with a clinically defined pattern of somatic abnormalities and a neurobehavioral phenotype that may include ASD. Most have a known genetic cause. Examples include fragile X syndrome and tuberous sclerosis complex. We propose dividing syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically defined syndrome-recognizing these disorders depends on the familiarity of the clinician with the features of the syndrome, and the diagnosis is typically confirmed by targeted genetic testing (eg, mutation screening of FMR1); (ii) ASD that occurs as a feature of a molecularly defined syndrome-for this group of patients, ASD-associated variants are identified by genome-wide testing that is not hypothesis driven (eg, microarray, whole exome sequencing). These ASD groups cannot be easily clinically defined because patients with a given variant have variable somatic abnormalities (dysmorphism and birth defects). In this article, we review common diagnoses from the above categories and suggest a testing strategy for patients, guided by determining whether the individual has essential or complex ASD; patients in the latter group have multiple morphologic anomalies on physical examination. Finally, we recommend that the syndromic versus nonsyndromic designation ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the

  2. Fat embolism syndrome: Case report of a clinical conundrum

    PubMed Central

    Nandi, Roneeta; Venkategowda, Pradeep Marur; Mutkule, Dnyaneshwar; Rao, Surath Manimala

    2014-01-01

    Fat embolism syndrome is a rare clinical condition associated with trauma, particularly of long bones. FES after fracture of neck of femur or head of humerus is uncommon. We report a case of FES following fracture in neck of femur and head of humerus in a man with history of mitral valve replacement, on long-term oral anticoagulant therapy, with an alleged history of convulsions. Our dilemma in clinical diagnosis is discussed. PMID:25190956

  3. Late whiplash syndrome: a clinical science approach to evidence-based diagnosis and management.

    PubMed

    Poorbaugh, Keith; Brismée, Jean-Michel; Phelps, Valerie; Sizer, Phillip S

    2008-01-01

    The purpose of this article is to narrow the gap that exists in the clinical application of scientific research and empiric evidence for the evaluation and management of late whiplash. Considering that 14% to 42% of patients are left with chronic symptoms following whiplash injury, it is unlikely that only minor self-limiting injuries result from the typical rear-end impact. As psychosocial issues play a role in the development of persistent whiplash symptoms, discerning the organic conditions from the biopsychosocial factors remains a challenge to clinicians. The term "whiplash" represents the multiple factors associated with the event, injury, and clinical syndrome that are the end-result of a sudden acceleration-deceleration trauma to the head and neck. However, contentions surround the nature of soft-tissue injuries that occur with most motor vehicle accidents and whether these injuries are significant enough to result in chronic pain and limitations. The stark contrast in litigation for whiplash that exists among industrialized nations and less developed countries suggests another factor that could influence one's interpretation of symptoms' chronicity associated with Late Whiplash Syndrome. There are no gold standard tests or imaging techniques that can objectify whiplash-associated disorders. A lack of supporting evidence and disparity in medico-legal issues have created distinct camps in the scientific interpretations and clinical management of late whiplash. It is likely that efforts in research and/or clinical practice will begin to explain the disparity between acute and chronic whiplash syndrome. Recent evidence suggests that Late Whiplash Syndrome should be considered from a different context. The purpose of this article is to expound on several of the significant findings in the literature and offer clinical applications for evaluation and management of Late Whiplash Syndrome.

  4. Astronaut Scott Parazynski in hatch of CCT during training

    NASA Image and Video Library

    1994-06-23

    S94-36628 (23 June 1994) --- Astronaut Scott E. Parazynski poses at the hatch of the crew compartment trainer prior to a rehearsal of launch and entry procedures for a November 1994 flight aboard the Space Shuttle Atlantis. Four other NASA astronauts and a European mission specialist joined the mission specialist for this training exercise in the crew compartment trainer at the Johnson Space Center's (JSC) Shuttle Mockup and Integration Laboratory and will join him aboard Atlantis in November. The flight is manifest to support the Atmospheric Laboratory for Applications and Science (ATLAS-3) mission.

  5. Systematization of clinical trials related to treatment of metabolic syndrome, 1980-2015.

    PubMed

    Cardona Velásquez, Santiago; Guzmán Vivares, Laura; Cardona-Arias, Jaiberth Antonio

    2017-02-01

    Despite the clinical, epidemiological, and economic significance of metabolic syndrome, the profile of clinical trials on this disease is unknown. To characterize the clinical trials related to treatment of metabolic syndrome during the 1980-2015 period. Systematic review of the literature using an ex ante search protocol which followed the phases of the guide Preferred Reporting Items for Systematic Reviews and Meta-Analyses in four multidisciplinary databases with seven search strategies. Reproducibility and methodological quality of the studies were assessed. One hundred and six trials were included, most from the United States, Italy, and Spain, of which 63.2% evaluated interventions effective for several components of the syndrome such as diet (40.6%) or physical activity (22.6%). Other studies assessed drugs for a single factor such as hypertension (7.5%), hypertriglyceridemia (11.3%), or hyperglycemia (9.4%). Placebo was used as control in 54.7% of trials, and outcome measures included triglycerides (52.8%), HDL (48.1%), glucose (29.2%), BMI (33.0%), blood pressure (27.4%), waist circumference (26.4%), glycated hemoglobin (11.3%), and hip circumference (7.5%). It was shown that studies ob efficacy of treatment for metabolic syndrome are scarce and have mainly been conducted in the last five years and in high-income countries. Trials on interventions that affect three or more factors and assess several outcome measures are few, and lifestyle interventions (diet and physical activity) are highlighted as most important to impact on this multifactorial syndrome. Copyright © 2017 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Spine deformities in rare congenital syndromes: clinical issues.

    PubMed

    Campbell, Robert M

    2009-08-01

    early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs. For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

  7. Severe hypertension and hypokalemia as first clinical manifestations in ectopic Cushing's syndrome.

    PubMed

    Fernández-Rodríguez, Eva; Villar-Taibo, Rocío; Pinal-Osorio, Iria; Cabezas-Agrícola, José Manuel; Anido-Herranz, Urbano; Prieto, Alma; Casanueva, Felipe F; Araujo-Vilar, David

    2008-08-01

    Ectopic ACTH production occurs in about 10% of all cases of Cushing's syndrome, and about 25% of cases of ACTH-dependent Cushing's syndrome. Diverse tumor types are able to produce ACTH ectopically, including small cell lung carcinoma. Ectopic ACTH secretion by malignant neoplasm has been reported to have earlier and more aggressive metabolic effects. We report a 59-year-old male patient with severe hypertension, metabolic alkalosis and hypokalemia as the first clinical manifestations of an ACTH-secreting small cell lung carcinoma, although the typical phenotypic features of Cushing's syndrome were not present. Ectopic Cushing's syndrome should always be ruled out in patients with severe hypertension and hypokalemia.

  8. Astronaut David Scott using Apollo Lunar Surface Drill during second EVA

    NASA Image and Video Library

    1971-08-01

    S71-41501 (1 Aug. 1971) --- Astronaut David R. Scott, Apollo 15 commander, is seen carrying the Apollo Lunar Surface Drill (ALSD) during the second lunar surface extravehicular activity (EVA) in this black and white reproduction taken from a color transmission made by the RCA color television camera mounted on the Lunar Roving Vehicle (LRV). This transmission was the fourth made during the mission.

  9. Raise Test Scores without Selling Your Soul: An Interview with Scott Mandel

    ERIC Educational Resources Information Center

    Curriculum Review, 2006

    2006-01-01

    With his 10th book, Improving Test Scores: A Practical Approach for Teachers and Administrators, Scott Mandel outlines steps educators can take to boost achievement on standardized exams while maintaining the integrity of their day-to-day teaching. Mandel, who holds a Ph.D. in curriculum and instruction from USC, teaches history and English at…

  10. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. © 2014 Wiley Periodicals, Inc.

  11. Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.

    PubMed

    Giuffrè, M; De Sanctis, L

    2010-06-01

    Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these conditions, even if partially known so far, can help in explaining the clinical features and prognosis. The diagnostic course, the genetic investigations and the follow-up of a LGA patient will be presented during the seminar. A wide clinical spectrum from esophageal atresia to VACTERL association. Oesophageal atresia (OA) occurs approximately in 1 in 3000 live births. It can be clinically divided into isolated and syndromic, when associated with other features. The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. Survival is directly related to birth weight and to the presence of a major cardiac defect. The VACTERL association refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The overall phenotype of a series of newborn patients we observed may vary widely, reflecting the aetiologic heterogeneity of this group of conditions. Therefore, possible additional defects must be

  12. [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].

    PubMed

    Safronova, Marta Maia; Arantes, Mavilde; Lima, Iva; Domingues, Sara; Almeida, Marta; Moniz, Pedro

    2010-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene. Diagnostic criteria were defined by Evans, revised by Kimonis and include major and minor criteria. The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome. The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives. In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed. Histopathological exam revealed keratocysts. None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity. The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas. Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life. These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas. Treatment should accomplish the complete resection of the tumors.

  13. 76 FR 71611 - Notice of Establishment of the Fort Winfield Scott Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-18

    ... and leadership development. DATES: Nominations for members must be received on or before December 16... service and leadership development, with specific emphasis on: (a) Assessing the role and key opportunities of a national center dedicated to service and leadership at Fort Scott in the Presidio of San...

  14. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    PubMed

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,P<0.05). In addition, depression (79.9%) and HIV/AIDS-related symptoms such as fatigue (42.3%), back aches (40.7%), lack of appetite (33.9%), night sweats (31.7%) were more common among abnormal savda syndrome patients (P<0.05). Abnormal savda syndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  15. Scott Crossfield - Portraits

    NASA Technical Reports Server (NTRS)

    1954-01-01

    Albert Scott Crossfield joined the U.S. Navy and was commissioned an ensign in 1943. After completing his military flight training, he served as a fighter and gunnery instructor and maintenance officer before spending six months overseas. He did not see combat duty, but flew such aircraft as the F6F and F4U fighters. Crossfield attended the University of Washington, receiving a Bachelor degree in aeronautical engineering in 1949 and a Masters in aeronautical engineering the following year. He joined the National Advisory Committee for Aeronautics as a pilot at the High-Speed Flight Research Station in June 1950. For the next five years Crossfield flew high speed jets and rocket planes for NACA, including the Bell X-1#2 (10 flights, first on April 20, 1951), Douglas D-558-I #3 Skystreak (15 flights, first on November 29, 1950), D-558-II #2 (53 flights, first on September 28, 1951), D-558-II #3 Skyrocket (36 flights, first on December 22, 1950), Northrop X-4 (29 flights, first on December 6, 1950), Bell X-5 (10 flights, first on April 3, 1952), Convair XF-92A (25 flights, first on April 9, 1953), and the F-100. On November 20, 1953, Crossfield made the first piloted Mach 2 flight in the D-558-II Skyrocket. Crossfield left NACA in December 1955 to join North American Aviation. North American won the competition to build the X-15 a high altitude, high speed piloted research aircraft.

  16. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

    PubMed Central

    de Vries, Tamar I; R Monroe, Glen; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne MC; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

    2016-01-01

    Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected. PMID:26956253

  17. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

    PubMed

    de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

    2016-08-01

    Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected.

  18. [Constitutional syndrome: clinical entity or a mixed bag].

    PubMed

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

    2013-01-01

    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  19. A pragmatic evidence-based clinical management algorithm for burning mouth syndrome

    PubMed Central

    Yoo, Timothy; Han, Peter; Liu, Yuan; Inman, Jared C.

    2018-01-01

    Background Burning mouth syndrome is a poorly understood disease process with no current standard of treatment. The goal of this article is to provide an evidence-based, practical, clinical algorithm as a guideline for the treatment of burning mouth syndrome. Material and Methods Using available evidence and clinical experience, a multi-step management algorithm was developed. A retrospective cohort study was then performed, following STROBE statement guidelines, comparing outcomes of patients who were managed using the algorithm and those who were managed without. Results Forty-seven patients were included in the study, with 21 (45%) managed using the algorithm and 26 (55%) managed without. The mean age overall was 60.4 ±16.5 years, and most patients (39, 83%) were female. Cohorts showed no statistical difference in age, sex, overall follow-up time, dysgeusia, geographic tongue, or psychiatric disorder; xerostomia, however, was significantly different, skewed toward the algorithm group. Significantly more non-algorithm patients did not continue care (69% vs. 29%, p=0.001). The odds ratio of not continuing care for the non-algorithm group compared to the algorithm group was 5.6 [1.6, 19.8]. Improvement in pain was significantly more likely in the algorithm group (p=0.001), with an odds ratio of 27.5 [3.1, 242.0]. Conclusions We present a basic clinical management algorithm for burning mouth syndrome which may increase the likelihood of pain improvement and patient follow-up. Key words:Burning mouth syndrome, burning tongue, glossodynia, oral pain, oral burning, therapy, treatment. PMID:29750091

  20. [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.

  1. Hometown Hero: Featuring Scott Whittaker. The Kids on the Block Book Series.

    ERIC Educational Resources Information Center

    Aiello, Barbara; Shulman, Jeffrey

    One of a series of children's books written from the point of view of an elementary grade child with a disability or other problem, the stories emphasize the similarities in childhood experience while providing information specific to the disability. In this book a fifth-grader, Scott, reveals in this diary how he copes with his asthma and the…

  2. Coretta Scott King Award Winner Javaka Steptoe Stands Tall "In Daddy's Arms."

    ERIC Educational Resources Information Center

    Peck, Jackie; Hendershot, Judy

    1999-01-01

    Offers an interview with artist and author Javaka Steptoe, winner of the Coretta Scott King award for his book "In Daddy's Arms I Am Tall: African Americans Celebrating Fathers." Discusses his background in the arts, the variety of media he uses, how he begins thinking about his illustrations, his work with children's art, and aspects of his work.…

  3. Clinical characteristics of a sample of patients with cat eye syndrome.

    PubMed

    Rosa, Rafael Fabiano Machado; Mombach, Rômulo; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

    2010-01-01

    Cat eye syndrome is considered a rare chromosome disease with a highly variable phenotype. The objective of this paper was to describe the clinical characteristics of a sample of patients with cat eye syndrome who were seen at our service. This is a retrospective analysis of a sample of six patients with diagnoses of cat eye syndrome. All of these patients’ karyotypes exhibited the presence of an additional marker chromosome, inv dup(22)(pter->q11.2::q11.2->pter). One patient also exhibited mosaicism with a lineage that had a normal chromosomal constitution. Clinical and follow-up data were collected from the patients’ medical records. Fisher’s exact test was used to compare the frequencies observed in our study with figures given in the literature (P<0.05). The main abnormalities observed were preauricular tags and/or pits and anal atresia (both observed in 83% of cases). Coloboma of the iris, an important finding with this syndrome, was observed in two cases (33%). Congenital heart disease was detected in four patients (67%) and the main defect found was interatrial communication (75%). Uncommon findings included hemifacial microsomia combined with unilateral microtia and biliary atresia. Just one of these patients died, from chylothorax and sepsis. The phenotype observed in cat eye syndrome is highly variable and may be superimposed on the phenotype of the oculo-auriculo-vertebral spectrum. Although these patients usually have good prognosis, including from a neurological point of view, we believe that all patients with the syndrome should be assessed very early on for the presence of cardiac, biliary and anorectal malformations, which may avoid possible complications in the future, including patient deaths.

  4. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

    PubMed Central

    Weemaes, Corry MR; van Tol, Maarten JD; Wang, Jun; van Ostaijen-ten Dam, Monique M; van Eggermond, Marja CJA; Thijssen, Peter E; Aytekin, Caner; Brunetti-Pierri, Nicola; van der Burg, Mirjam; Graham Davies, E; Ferster, Alina; Furthner, Dieter; Gimelli, Giorgio; Gennery, Andy; Kloeckener-Gruissem, Barbara; Meyn, Stephan; Powell, Cynthia; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Shugar, Andrea; van den Elsen, Peter J; van der Maarel, Silvère M

    2013-01-01

    Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype–phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling. PMID:23486536

  5. Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome.

    PubMed

    Albakaye, Mohamed; Belaïdi, Halima; Lahjouji, Fatiha; Errguig, Leila; Kuate, Callixte; Maiga, Youssoufa; Diallo, Seybou Hassane; Kissani, Najib; Ouazzani, Reda

    2018-03-01

    The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of febrile seizures during childhood. It is characterized by the presence of prolonged unilateral clonic seizures occurring during febrile illness in a child less than 4years of age. Then, a flaccid unilateral hemiplegia with variable duration occurs. The objective of the study was to describe the clinical, electroencephalogram (EEG), and neuroimaging treatment and outcome of series of cases of HHE syndrome followed for 10years in our clinical neurophysiology department of the specialty hospital of Rabat. We report a retrospective study of 35 patients followed up for HHE syndrome from January 2005 to December 2015. All patients included in the study met the definition criteria for HHE syndrome. The age of onset ranged from 1 to 10years. Hemiplegia or spastic hemiparesis of the ipsilateral side to the convulsion was present in all patients. Abnormal brain magnetic resonance imaging (MRI) was found in all patients. All patients developed drug-resistant focal epilepsy during the course of the disease. The management of HHE syndrome constitutes a real public health problem in developing countries like Morocco. The neurological morbidity and the severe sequels are of high impact in these young kids. On the one hand, authors highlight the need for improving emergency care of status epilepticus. On the other hand, in our context, the prophylaxis of febrile seizures seems to be the corner stone of the prevention of HHE Syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  6. Astronaut David R. Scott on deck of ship prior to water egress training

    NASA Image and Video Library

    1968-11-05

    S68-54810 (5 Nov. 1968) --- Astronaut David R. Scott, command module pilot of the Apollo 9 (Spacecraft 104/Lunar Module 3/Saturn 504) space mission, relaxes on the deck of the NASA Motor Vessel Retriever prior to participating in water egress training in the Gulf of Mexico.

  7. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    PubMed

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome.

  8. Pilot Scott Horowitz fashions cord loop fasteners for a contingency spacewalk

    NASA Image and Video Library

    1997-02-16

    S82-E-5597 (17 Feb. 1997) --- Astronaut Scott J. Horowitz at pilot's station works with a hand-fashioned loop fastener device to be used in support of the additional STS-82 Extravehicular Activity (EVA) to service Hubble Space Telescope (HST). Note sketches overhead which were sent by ground controllers to guide the pilot's engineering of the task. This view was taken with an Electronic Still Camera (ESC).

  9. Does This Older Adult With Lower Extremity Pain Have the Clinical Syndrome of Lumbar Spinal Stenosis?

    PubMed Central

    Suri, Pradeep; Rainville, James; Kalichman, Leonid; Katz, Jeffrey N.

    2012-01-01

    Context The clinical syndrome of lumbar spinal stenosis (LSS) is a common diagnosis in older adults presenting with lower extremity pain. Objective To systematically review the accuracy of the clinical examination for the diagnosis of the clinical syndrome of LSS. Data Sources MEDLINE, EMBASE, and CINAHL searches of articles published from January 1966 to September 2010. Study Selection Studies were included if they contained adequate data on the accuracy of the history and physical examination for diagnosing the clinical syndrome of LSS, using a reference standard of expert opinion with radiographic or anatomic confirmation. Data Extraction Two authors independently reviewed each study to determine eligibility, extract data, and appraise levels of evidence. Data Synthesis Four studies evaluating 741 patients were identified. Among patients with lower extremity pain, the likelihood of the clinical syndrome of LSS was increased for individuals older than 70 years (likelihood ratio [LR], 2.0; 95% confidence interval [CI], 1.6–2.5), and was decreased for those younger than 60 years (LR, 0.40; 95% CI, 0.29–0.57). The most useful symptoms for increasing the likelihood of the clinical syndrome of LSS were having no pain when seated (LR, 7.4; 95% CI, 1.9–30), improvement of symptoms when bending forward (LR, 6.4; 95% CI, 4.1–9.9), the presence of bilateral buttock or leg pain (LR, 6.3; 95% CI, 3.1–13), and neurogenic claudication (LR, 3.7; 95% CI, 2.9–4.8). Absence of neurogenic claudication (LR, 0.23; 95% CI, 0.17–0.31) decreased the likelihood of the diagnosis. A wide-based gait (LR, 13; 95% CI, 1.9–95) and abnormal Romberg test result (LR, 4.2; 95% CI, 1.4–13) increased the likelihood of the clinical syndrome of LSS. A score of 7 or higher on a diagnostic support tool including history and examination findings increased the likelihood of the clinical syndrome of LSS (LR, 3.3; 95% CI, 2.7–4.0), while a score lower than 7 made the diagnosis much less

  10. Astronaut Scott Carpenter completes top egress training in white room

    NASA Image and Video Library

    1962-03-16

    S62-01383 (1962) --- Project Mercury astronaut M. Scott Carpenter, prime pilot of the Mercury-Atlas 7 (the nation's second manned orbital flight), completes top egress training in the white room at Cape Canaveral, Florida. The line he is holding is known as the "man line" which attaches the survival kit to the astronaut. The bag is the survival kit he carries for contingency landings. Clearly visible around his neck is the bag containing the life vest. Photo credit: NASA

  11. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations

    PubMed Central

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D.; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N.; Lindor, Noralane M.; Young, Joanne; Winship, Ingrid; Dowty, James G.; White, Darren M.; Hopper, John L.; Baglietto, Laura; Jenkins, Mark A.; de la Chapelle, Albert

    2009-01-01

    Background and Aims Although the clinical phenotype of Lynch syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. Methods We performed PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Results Germline PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2 fold higher and the incidence of endometrial cancer was 7.5 fold higher. In North America, this translates to a cumulative cancer risk to age 70 of 15–20% for colorectal cancer, 15% for endometrial cancer, and 25–32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. Conclusions PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed. PMID:18602922

  12. Clinics in diagnostic imaging (178). Wünderlich syndrome and pseudoaneurysm.

    PubMed

    Chung, Raymond; Chawla, Ashish; Peh, Wilfred Cg

    2017-06-01

    Wünderlich syndrome is a rare entity characterised by spontaneous retroperitoneal haemorrhage with renal origin. We present a case of Wünderlich syndrome secondary to clotting dyscrasia in a 64-year-old woman. The patient experienced a second Wünderlich haemorrhagic event with metachronous pseudoaneurysm formation, which was likely secondary to the large subcapsular haematoma stripping the renal capsule and tearing the cortical arteries. Selective pseudoaneurysm embolisations were successfully performed on both occasions. This clinical entity, its imaging differential diagnoses and management are discussed. Copyright: © Singapore Medical Association.

  13. Metabolic syndrome in patients with hypertension attending a family practice clinic in Jordan.

    PubMed

    Yasein, N; Ahmad, M; Matrook, F; Nasir, L; Froelicher, E S

    2010-04-01

    Metabolic syndrome is being reported more frequently in the Eastern Mediterranean region. Patients with hypertension attending family practice clinics in the University of Jordan Hospital between February and July 2006 were assessed for the frequency of metabolic syndrome and its individual components. Of 345 patients studied, 65% had metabolic syndrome. Females were more likely to meet Adult Treatment Panel-III criteria for the diagnosis. Diabetes mellitus was the most frequent component of metabolic syndrome in males, while low serum high-density lipoprotein cholesterol and high waist circumference ranked first and second in females. Primary care providers should be alert to the importance of screening patients with hypertension for metabolic syndrome to prevent and manage these combined conditions.

  14. Comparative responsiveness and minimal clinically important differences for idiopathic ulnar impaction syndrome.

    PubMed

    Kim, Jae Kwang; Park, Eun Soo

    2013-05-01

    Patient-reported questionnaires have been widely used to predict symptom severity and functional disability in musculoskeletal disease. Importantly, questionnaires can detect clinical changes in patients; however, this impact has not been determined for ulnar impaction syndrome. We asked (1) which of Patient-Rated Wrist Evaluation (PRWE), DASH, and other physical measures was more responsive to clinical improvements, and (2) what was the minimal clinically important difference for the PRWE and DASH after ulnar shortening osteotomy for idiopathic ulnar impaction syndrome. All patients who underwent ulnar shortening osteotomy between March 2008 and February 2011 for idiopathic ulnar impaction syndrome were enrolled in this study. All patients completed the PRWE and DASH questionnaires, and all were evaluated for grip strength and wrist ROM, preoperatively and 12 months postoperatively. We compared the effect sizes observed by each of these instruments. Effect size is calculated by dividing the mean change in a score of each instrument during a specified interval by the standard deviation of the baseline score. In addition, patient-perceived overall improvement was used as the anchor to determine the minimal clinically important differences on the PRWE and DASH 12 months after surgery. The average score of each item except for wrist flexion and supination improved after surgery. The PRWE was more sensitive than the DASH or than physical measurements in detecting clinical changes. The effect sizes and standardized response means of the outcome measures were as follows: PRWE (1.51, 1.64), DASH (1.12, 1.24), grip strength (0.59, 0.68), wrist pronation (0.33, 0.41), and wrist extension (0.28, 0.36). Patient-perceived overall improvement and score changes of the PRWE and DASH correlated significantly. Minimal clinically important differences were 17 points (of a possible 100) for the PRWE and 13.5 for the DASH (also of 100), and minimal detectable changes were 7.7 points

  15. Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case.

    PubMed

    Orac, Amalia; Artenie, Anca; Toader, Mihaela Paula; Harnagea, Raluca; Dinu-Mitrofan, Diana; Grigorovici, Mirela; Ungureanu, G

    2014-01-01

    Sneddon syndrome is defined by the association of livedo racemosa and recurrent cerebrovascular ischemic lesions. The annual incidence is 4/1,000,000. This syndrome particularly affects young women, some reports suggesting a family predisposition. It is a chronic, progressive, arterio-occlusive disease of unknown etiology that involves small and medium-sized arteries. It is usually associated with antiphospholipid antibodies. We report the case of a female patient with Sneddon syndrome with significant family history, personal history of stroke, epilepsy, migraine, cardiovascular involvement, three miscarriages, cognitive decline, noncompliant to therapy, in the absence of antiphospholipid antibodies. This paper aims to analyze the main characteristic features and management of Sneddon syndrome by conducting a literature review related to a clinical case.

  16. HAEMORRHAGIC SYNDROME IN THE CLINICAL PICTURE OF RADIATION SICKNESS IN DOGS AFFECTED BY POLONIUM (in Russian)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mikhailovich, S.M.

    Subcutaneous introduction of polonium to dogs brings about development of radiation sickness with appearance of haemorrhagic syndrome, which is characterized by disturbed process of blood coagulation, thrombocytopenia, decreased prothrombin value of the blood, increased permeability of capillaries. The clinical picture of the usually developed affection corresponds to the well known symptomatology, described in literature. Indicators of the haemorrhagic syndrome (blood coagulation, prothrombin value, permeabillty and stability of capillaries) appear in animals earlier than the clinical manifestations of this syndrome. (tr-auth)

  17. Rett Syndrome: Crossing the Threshold to Clinical Translation

    PubMed Central

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

    2016-01-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  18. The prevalence and clinical impact of obesity in adults with Marfan syndrome

    PubMed Central

    Yetman, Anji T; McCrindle, Brian W

    2010-01-01

    BACKGROUND: Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic. OBJECTIVE: To examine the prevalence and clinical impact of obesity in a cohort of adults with Marfan syndrome. METHODS: Fifty outpatients (30 female) with a mean (± SD) age of 38±13 years were studied. Demographic variables including previously identified risk factors for aortic dissection were recorded. Body mass index (BMI) was determined and patients were classified as normal (BMI less than 25 kg/m2), overweight (BMI 25 kg/m2 to 29.9 kg/m2) or obese (BMI 30 kg/m2 or greater). Other cardiovascular risk factors were examined. An adverse clinical outcome was defined as either the attainment of surgical criteria for aortic root replacement or the presence of aortic dissection. RESULTS: A family history of aortic dissection was present in 13 (26%) patients. In 23 (46%) patients, there was no known family history of Marfan syndrome. Mean BMI was 25.4±7.4 kg/m2, with 18 (36%) patients having an elevated BMI. Positive smoking status was present in 15 (30%), hypertension in 13 (26%) and hyperlipidemia in 19 (38%) patients. Adverse clinical outcome was present in 27 (54%) patients. Logistic regression analysis revealed only index case (OR 44; P<0.001) and higher BMI (OR 1.2; P=0.04) to be significantly and independently associated with increased risk of adverse clinical outcome. CONCLUSIONS: Obesity is common in adults with Marfan syndrome and is associated with an increased risk of aortic complications. PMID:20386774

  19. Burning mouth syndrome: Clinical description, pathophysiological approach, and a new therapeutic option.

    PubMed

    Cárcamo Fonfría, A; Gómez-Vicente, L; Pedraza, M I; Cuadrado-Pérez, M L; Guerrero Peral, A L; Porta-Etessam, J

    2017-05-01

    Burning mouth syndrome is defined as scorching sensation in the mouth in the absence of any local lesions or systemic disease that would explain that complaint. The condition responds poorly to commonly used treatments and it may become very disabling. We prospectively analysed the clinical and demographic characteristics and response to treatment in 6 cases of burning mouth syndrome, diagnosed at 2 tertiary hospital headache units. Six female patients between the ages of 34 and 82 years reported symptoms compatible with burning mouth syndrome. In 5 of them, burning worsened at the end of the day; 4 reported symptom relief with tongue movements. Neurological examinations and laboratory findings were normal in all patients and their dental examinations revealed no buccal lesions. Each patient had previously received conventional treatments without amelioration. Pramipexol was initiated in doses between 0.36mg and 1.05mg per day, resulting in clear improvement of symptoms in all cases, a situation which continues after a 4-year follow up period. Burning mouth syndrome is a condition of unknown aetiology that shares certain clinical patterns and treatment responses with restless leg syndrome. Dopamine agonists should be regarded as first line treatment for this entity. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

    PubMed

    Butler, Merlin G; Manzardo, Ann M; Forster, Janice L

    2016-01-01

    Prader-Willi syndrome (PWS) is a neuro-developmental genetic disorder due to lack of expression of genes inherited from the paternal chromosome 15q11-q13 region with three main genetic subtypes. These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 15 or both 15s from the mother (20-30% of cases), and defects in the imprinting center (1-3%) which controls the expression of imprinted genes in this chromosome region. Clinical manifestations include infantile hypotonia with a poor suck resulting in failure to thrive, short stature, small hands/feet and hypogonadism/hypogenitalism due to growth and other hormone deficiencies, hyperphagia and excessive weight gain with obesity and cognitive and behavioral problems including obsessive compulsions, tantrums and self-injury. The phenotype is likely related to hypothalamic dysfunction. Hyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS requiring accurate diagnosis, appropriate medical management and treatment; the major objective of our report. An extensive review of the literature was undertaken including genetics, clinical and behavioral aspects, and updated health-related information addressing the importance of early diagnosis and treatment of individuals with Prader-Willi syndrome. A searchable, bulleted and formatted list of topics related to this obesity syndrome was provided utilizing a Table of Contents approach for the clinical practitioner. Physicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections that are pertinent in the context of clinical practice. Finally, frequently asked questions by clinicians, families and other interested participants will be addressed.

  1. STS-87 Mission Specialists Scott and Doi with EVA coordinator Laws participate in the CEIT for their

    NASA Technical Reports Server (NTRS)

    1997-01-01

    Participating in the Crew Equipment Integration Test (CEIT) at Kennedy Space Center are STS-87 crew members, assisted by Glenda Laws, extravehicular activity (EVA) coordinator, Johnson Space Center, at left. Next to Laws is Mission Specialist Takao Doi, Ph.D., of the National Space Development Agency of Japan, who is looking on as Mission Specialist Winston Scott gets a hands-on look at some of the equipment. The STS-87 mission will be the fourth United States Microgravity Payload and flight of the Spartan-201 deployable satellite. During the mission, scheduled for a Nov. 19 liftoff from KSC, Dr. Doi and Scott will both perform spacewalks.

  2. The metabolic syndrome: validity and utility of clinical definitions for cardiovascular disease and diabetes risk prediction.

    PubMed

    Cameron, Adrian

    2010-02-01

    The purpose of clinical definitions of the metabolic syndrome is frequently misunderstood. While the metabolic syndrome as a physiological process describes a clustering of numerous age-related metabolic abnormalities that together increase the risk for cardiovascular disease and type 2 diabetes, clinical definitions include obesity which is thought to be a cause rather than a consequence of metabolic disturbance, and several elements that are routinely measured in clinical practice, including high blood pressure, high blood glucose and dyslipidaemia. Obesity is frequently a central player in the development of the metabolic syndrome and should be considered a key component of clinical definitions. Previous clinical definitions have differed in the priority given to obesity. Perhaps more importantly than its role in a clinical definition, however, is obesity in isolation before the hallmarks of metabolic dysfunction that typify the syndrome have developed. This should be treated seriously as an opportunity to prevent the consequences of the global diabetes epidemic now apparent. Clinical definitions were designed to identify a population at high lifetime CVD and type 2 diabetes risk, but in the absence of several major risk factors for each condition, are not optimal risk prediction devices for either. Despite this, the metabolic syndrome has several properties that make it a useful construct, in conjunction with short-term risk prediction algorithms and sound clinical judgement, for the identification of those at high lifetime risk of CVD and diabetes. A recently published consensus definition provides some much needed clarity about what a clinical definition entails. Even this, however, remains a work in progress until more evidence becomes available, particularly in the area of ethnicity-specific waist cut-points. Copyright 2009 Elsevier Ireland Ltd. All rights reserved.

  3. HIV-associated lipodystrophy syndrome: A review of clinical aspects

    PubMed Central

    Baril, Jean-Guy; Junod, Patrice; LeBlanc, Roger; Dion, Harold; Therrien, Rachel; Laplante, François; Falutz, Julian; Côté, Pierre; Hébert, Marie-Nicole; Lalonde, Richard; Lapointe, Normand; Lévesque, Dominic; Pinault, Lyse; Rouleau, Danielle; Tremblay, Cécile; Trottier, Benoît; Trottier, Sylvie; Tsoukas, Chris; Weiss, Karl

    2005-01-01

    Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome. PMID:18159551

  4. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    ERIC Educational Resources Information Center

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  5. Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.

    PubMed

    Matsui, Kiyoshi; Kataoka, Ai; Yamamoto, Atsuko; Tanoue, Koji; Kurosawa, Kenji; Shibasaki, Jun; Ohyama, Makiko; Aida, Noriko

    2014-12-01

    Möbius syndrome is a congenital disorder with facial and abducens palsy. Although a few case series studies have examined comorbid conditions in Möbius syndrome, follow-up and outcome data are sparse. To examine the clinical characteristics and outcomes of Möbius syndrome. Clinical data were reviewed for 10 patients. Neonatal history, neurological examination, comorbid anomalies, medical home care, outcomes, and neuroimaging were summarized. The patients' mean age was 7.3 ± 6.2 years. On neurological examination, absent blink reflex, jaw ankylosis, absent gag reflex, and tongue atrophy were frequently observed. Poland anomaly and clubfoot were present in three and six patients, respectively. Specific therapies required for patients included medical home care (six patients), suction apparatus (six), tube feeding (five), gastrostomy (two), tracheostomy (three), oxygen therapy (three), and home ventilator (two). Punctate calcification in the brainstem was observed in four patients. Pontine and medulla hypoplasia were detected on the basis of anteroposterior diameter in four and seven patients, respectively. Two patients had congenital hydrocephalus with aqueductal stenosis. Global developmental delay occurred in five patients. Three patients died. The rate of both the use of home medical devices and death was high in our patients. Möbius syndrome is extremely diverse, not only in clinical manifestation, but also outcome. Early multidisciplinary intervention is important to ensure an optimal outcome. Aqueductal stenosis is an occasional comorbid anomaly resulting from midbrain abnormality. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Modernity in Two Great American Writers' Vision: Ernest Miller Hemingway and Scott Fitzgerald

    ERIC Educational Resources Information Center

    Keshmiri, Fahimeh; Darzikola, Shahla Sorkhabi

    2016-01-01

    Scott Fitzgerald and Ernest Hemingway, American memorable novelists have had philosophic ideas about modernity. In fact their idea about existential interests of American, and the effects of American system on society, is mirrored in their creative works. All through his early works, Fitzgerald echoes the existential center of his era. Obviously,…

  7. View of Commander (CDR) Scott Altman working on the Flight Deck

    NASA Image and Video Library

    2009-05-21

    S125-E-013081 (21 May 2009) --- Occupying the commander?s station, astronaut Scott Altman, STS-125 commander, uses the Portable In-Flight Landing Operations Trainer (PILOT) on the flight deck of the Earth-orbiting Space Shuttle Atlantis. PILOT consists of a laptop computer and a joystick system, which helps to maintain a high level of proficiency for the end-of-mission approach and landing tasks required to bring the shuttle safely back to Earth.

  8. 78 FR 77791 - Dakota, Minnesota & Eastern Railroad Corporation-Abandonment Exemption-in Scott County, Iowa

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-24

    ... DEPARTMENT OF TRANSPORTATION Surface Transportation Board [Docket No. AB 337 (Sub-No. 7X)] Dakota, Minnesota & Eastern Railroad Corporation--Abandonment Exemption--in Scott County, Iowa Dakota, Minnesota & Eastern Railroad Corporation d/b/a Canadian Pacific (DM&E) has filed a verified notice of exemption under...

  9. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    ERIC Educational Resources Information Center

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  10. [DIFFERENCE IN THE PREVALENCE OF BURNOUT SYNDROME IN PRECLINICAL AND CLINICAL TEACHING DOCTORS OF MOSTAR SCHOOL OF MEDICINE].

    PubMed

    Vukojevič, Mladenka; Antunovič, Andelka; Petrov, Božo

    2015-01-01

    The aim of this study was to determine the difference in the prevalence of burnout syndrome in preclinical and clinical teaching doctors of Mostar School of Medicine in the academic year 2011/2012. Special attention was also focused on finding out the possible difference between the syndrome incidence that was correlated to gender and years of service. The main hypothesis was that the probability of burnout syndrome incidence was higher in the group of female clinical teaching doctors having more years of service. The study involved 62 people with high academic education employed at Mostar School of Medicine who were surveyed during a randomly selected consecutive 3-month period (February to May) of the academic year 2011/2012. The data were prospectively collected through a standardized questionnaire survey. The studied parameters were gender, years of work experience and the engagement in preclinical or clinical departments of the Medical School. The survey showed that 43 out of 62 (69.4%) respondents did not suffer the burnout syndrome, while moderate syndrome was recodred in 19 (30.6%) of them. No person had serious symptoms of the syndrome. The difference between the respondents who suffered the syndrome and those who did not was not statistically significant (P=0.002). Considering the gender of respondents, statistically significant differences were not confirmed (P=0.444). Considering the years of service, the highest incidence of the syndrome was found in people with more work experience (in the group of 21-25 years), but the difference between the groups was not statistically significant (P=0.271). Observing the work in preclinical and clinical departments, because of the limited number of patients we could not confirm the hypothesis. The syndrome had affected 13 (21%) clinical teaching doctors and 6 (9,7%) preclinical doctors, while the differenece between them was not statistically significant (P=0.054). Considering the results of this research, it has

  11. Asperger syndrome and schizophrenia: Νeurodevelopmental continuum or separated clinical entities?

    PubMed

    Anomitri, Chr; Lazaratou, H

    2017-01-01

    This article is an overview of the literature on Asperger's syndrome and schizophrenia and aim to discuss their similarities and differences. Eugen Bleuler who associated the terms "schizophrenia" and "autism" a century ago, viewed autism as a form of solitude of schizophrenic patients representing withdrawal from reality. Ever since, there has been confusion as to the boundaries between these conditions. Nowadays recent research, from a variety of perspectives-genomics, neurodevelopment, psychiatry, etc. has given new information on these conditions. It is easier to demarcate these two disorders at the extremes, but it is extremely difficult dissociating milder forms of both disorders. Asperger's syndrome (AS), is considered to be a continuous and lifelong disorder with strong heritability, present from early childhood. It is included within the category of autism spectrum disorders and it is usually diagnosed in childhood. Patients with Asperger syndrome are often diagnosed late or they are considered as having schizophrenia. Misdiagnosing Asperger syndrome creates severe problems by preventing effective therapy. A lot of clinical characteristics of Asperger's syndrome are also present in schizophrenia, such as impaired social interaction, disabilities in communication and restricted interests. On the other side some clinical features may facilitate the differential diagnosis, such as the younger age at onset, family history of pervasive developmental disorders, pragmatic aspects of language use, lack of imagination, ect. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. It is still a question whether autism spectrum disorders in young children can increase the risk for the development of schizophrenia and other psychotic disorders, later in life. Both disorders are of neurodevelopmental origin and genetic factors are prominent. In both neurocognitive

  12. Catastrophic antiphospholipid syndrome and pregnancy. Clinical report.

    PubMed

    Khizroeva, J; Bitsadze, V; Makatsariya, A

    2018-01-08

    We have observed the development of a catastrophic antiphospholipid syndrome (CAPS) in a pregnant woman hospitalized at 28 weeks of gestation with a severe preeclampsia. On the same day, an eclampsia attack developed, and an emergency surgical delivery was performed. On the third day, multiorgan failure developed. Examination showed a persistent circulation of lupus anticoagulant, high level of antibodies to cardiolipin, b2-glycoprotein I, and prothrombin. The usual diagnosis of the severe preeclampsia masked a catastrophic antiphospholipid syndrome, exacerbated by the coincident presence of several types of antiphospholipid antibodies. The first pregnancy resulted in a premature birth at 25 weeks, possibly also due to the circulation of antiphospholipid antibodies. The trigger of the catastrophic form development was the pregnancy itself, surgical intervention, and hyperhomocysteinemia. CAPS is the most severe form of antiphospholipid syndrome, manifested in multiple microthrombosis of microcirculation of vital organs and in the development of multiorgan failure against the background of the high level of antiphospholipid antibodies. CAPS is characterized by renal, cerebral, gastrointestinal, adrenal, ovarian, skin, and other forms of microthrombosis. Thrombosis recurrence is typical. Thrombotic microvasculopathy lies at the heart of multiorgan failure and manifests clinically in central nervous system lesions, adrenal insufficiency, and ARDS development. CAPS is a life-threatening condition, therefore, requires an urgent treatment. Optimal treatment of CAPS is not developed. CAPS represent a general medical multidisciplinary problem.

  13. The Cohen syndrome: clinical and endocrinological studies of two new cases.

    PubMed Central

    Balestrazzi, P; Corrini, L; Villani, G; Bolla, M P; Casa, F; Bernasconi, S

    1980-01-01

    This report concerns two new cases of the Cohen syndrome and gives further information on the variable phenotypical pattern of the disease. The frequency of major and minor clinical signs is reviewed from all the published reports. Among the minor signs we found previously undescribed skeletal abnormalities in one of our patients. The reported delay onset of puberty, which appears to be a frequent aspect of the syndrome, seems to occur without LH and FSH deficiency, as our patients show. Images PMID:6782211

  14. Clinical Investigation of Adrenal Incidentalomas in Japanese Patients of the Fukuoka Region with Updated Diagnostic Criteria for Sub-clinical Cushing's Syndrome.

    PubMed

    Abe, Ichiro; Sugimoto, Kaoru; Miyajima, Tetsumasa; Ide, Tomoko; Minezaki, Midori; Takeshita, Kaori; Takahara, Saori; Nakagawa, Midori; Fujimura, Yuki; Kudo, Tadachika; Miyajima, Shigero; Taira, Hiroshi; Ohe, Kenji; Ishii, Tatsu; Yanase, Toshihiko; Kobayashi, Kunihisa

    2018-04-27

    Objectives We retrospectively investigated the clinical and endocrinological characteristics of adrenal incidentalomas. Methods We studied 61 patients who had been diagnosed with adrenal incidentalomas and had undergone detailed clinical and endocrinological evaluations while hospitalized. We used common criteria to diagnose the functional tumors, but for sub-clinical Cushing's syndrome, we used an updated set of diagnosis criteria: serum cortisol ≥1.8 μg/dL after a positive response to a 1-mg dexamethasone suppression test if the patient has a low morning ACTH level (<10 pg/mL) and a loss of the diurnal serum cortisol rhythm. Results Of the 61 patients, none (0%) had malignant tumors, 8 (13.1%) had pheochromocytoma, and 15 (24.6%) had primary aldosteronism; when diagnosed by our revised criteria, 13 (21.3%) had cortisol-secreting adenomas (Cushing's syndrome and sub-clinical Cushing's syndrome), and 25 (41.0%) had non-functional tumors. Compared with the non-functional tumor group, the primary aldosteronism group and the cortisol-secreting adenoma group were significantly younger and had significantly lower rates of hypokalemia, whereas the pheochromocytoma group had significantly larger tumors and a significantly lower body mass index. Conclusion Our study found a larger percentage of functional tumors among adrenal incidentalomas than past reports, partly because we used a lower serum cortisol level after a dexamethasone suppression test to diagnose sub-clinical Cushing's syndrome and because all of the patients were hospitalized and could therefore receive more detailed examinations. Young patients with hypokalemia or lean patients with large adrenal tumors warrant particularly careful investigation.

  15. Post Hoc Analysis of Data from Two Clinical Trials Evaluating the Minimal Clinically Important Change in International Restless Legs Syndrome Sum Score in Patients with Restless Legs Syndrome (Willis-Ekbom Disease)

    PubMed Central

    Ondo, William G.; Grieger, Frank; Moran, Kimberly; Kohnen, Ralf; Roth, Thomas

    2016-01-01

    Study Objectives: Determine the minimal clinically important change (MCIC), a measure determining the minimum change in scale score perceived as clinically beneficial, for the international restless legs syndrome (IRLS) and restless legs syndrome 6-item questionnaire (RLS-6) in patients with moderate to severe restless legs syndrome (RLS/Willis-Ekbom disease) treated with the rotigotine transdermal system. Methods: This post hoc analysis analyzed data from two 6-mo randomized, double-blind, placebo-controlled studies (SP790 [NCT00136045]; SP792 [NCT00135993]) individually and as a pooled analysis in rotigotine-treated patients, with baseline and end of maintenance IRLS and Clinical Global Impressions of change (CGI Item 2) scores available for analysis. An anchor-based approach and receiver operating characteristic (ROC) curves were used to determine the MCIC for the IRLS and RLS-6. We specifically compared “much improved vs minimally improved,” “much improved/very much improved vs minimally improved or worse,” and “minimally improved or better vs no change or worse” on the CGI-2 using the full analysis set (data as observed). Results: The MCIC IRLS cut-off scores for SP790 and SP792 were similar. Using the pooled SP790+SP792 analysis, the MCIC total IRLS cut-off score (sensitivity, specificity) for “much improved vs minimally improved” was −9 (0.69, 0.66), for “much improved/very much improved vs minimally improved or worse” was −11 (0.81, 0.84), and for “minimally improved or better vs no change or worse” was −9 (0.79, 0.88). MCIC ROC cut-offs were also calculated for each RLS-6 item. Conclusions: In patients with RLS, the MCIC values derived in the current analysis provide a basis for defining meaningful clinical improvement based on changes in the IRLS and RLS-6 following treatment with rotigotine. Citation: Ondo WG, Grieger F, Moran K, Kohnen R, Roth T. Post hoc analysis of data from two clinical trials evaluating the minimal

  16. Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

    PubMed Central

    Lin, Angela E.; Basson, Craig T.; Goldmuntz, Elizabeth; Magoulas, Pilar L.; McDermott, Deborah A.; McDonald-McGinn, Donna M.; McPherson, Elspeth; Morris, Colleen A.; Noonan, Jacqueline; Nowak, Catherine; Pierpont, Mary Ella; Pyeritz, Reed E.; Rope, Alan F.; Zackai, Elaine; Pober, Barbara R.

    2009-01-01

    Cardiovascular abnormalities, especially structural congenital heart defects (CHDs), commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected CHDs such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology followup, primary care providers, geneticists and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical and reproductive issues associated with common genetic syndromes which are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. PMID:18580689

  17. Psychiatric symptoms as a clinical presentation of Cushing’s syndrome

    PubMed Central

    2013-01-01

    Cushing’s syndrome can present with a spectrum of symptoms; however, it is less recognised that psychiatric symptoms can form part of the clinical presenting features. In the investigations for an organic cause for a psychiatric illness, Cushing’s syndrome needs to be considered, especially if there are other features such as hirsutism or hypertension. In this article, the two cases reported demonstrate that a prompt diagnosis is not only important for psychiatric management but also crucial for timely institution of the necessary treatment of life-threatening causes of hypercortisolaemia such as metastatic adrenal carcinoma. PMID:23866099

  18. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

    PubMed

    Menko, Fred H; Aalfs, Cora M; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M J; Legemaate, Johan; Smets, Ellen M A; de Wert, Guido M W R; Tibben, Aad

    2013-06-01

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information. Barriers in conveying information include family communication problems and variable attitudes and practice among clinical geneticists. In this complex field, both medical, psychological, ethical and juridical aspects deserve consideration. Here we summarize the development of a revised guideline for clinical geneticists that allows a more active role of the geneticist, aimed at improving procedures to inform family members in Lynch syndrome and other hereditary and familial cancer syndromes.

  19. Does lumbar dorsal ramus syndrome have an objective clinical basis?

    PubMed

    Annaswamy, Thiru M; Bierner, Samuel M; Doppalapudi, Hima

    2013-12-01

    Degenerative processes can cause chronic low back pain that occasionally creates impingement of the lumbar dorsal rami, resulting in a clinical syndrome previously described as lumbar dorsal ramus syndrome (LDRS). To evaluate the clinical basis of LDRS by comparing pain, disability, and objective measures of pathophysiology in 3 groups of subjects defined by needle electromyography examination (NEE) findings. Prospective group cohort study with retrospective chart review. Veterans Affairs medical center outpatient clinic. Subjects who had undergone lower limb NEE and lumbar magnetic resonance imaging. A total of 71 subjects' records that met the study criteria were retrospectively reviewed for interventional spine procedures performed and to measure the lumbosacral paraspinal cross-sectional area (PSP CSA); 28 of the 71 subjects underwent further clinical assessment. One-way analysis of variance was performed to evaluate group differences. In the retrospective arm: (1) PSP CSAs measured at 4 lower lumbar disk levels (average of 3 consecutive slices/level) bilaterally and overall left and right lumbar average PSP CSA and (2) the frequency and type of interventional spine procedures performed. In the prospective arm: (1) temporal changes of NEE abnormalities, (2) pain measured using the Visual Analog Scale, (3) Pain Disability Questionnaire responses, and (4) Short Form-36 scores. The right L5 CSA was significantly greater in the group with mechanical low back pain compared with the group with lumbar radicular syndrome (F = 3.3; P < .05). No significant group differences were noted in the number of spine procedures performed. No significant differences in pain or disability scores were found among the groups. NEE findings improved over time predominantly in the LDRS group. LDRS is a diagnosis with identifiable NEE (lumbar multifidus denervation) findings and magnetic resonance imaging findings that may include lower lumbar paraspinal atrophy. NEE (paraspinal

  20. A presumptive case of Kindler syndrome with a new clinical finding.

    PubMed

    Satter, Elizabeth K

    2008-01-01

    Herein we present a 9-year-old boy with a constellation of clinical findings most consistent with Kindler syndrome, and report a new finding, severe corneal ectasia, which resulted in exposure keratitis requiring enucleation.

  1. [ZHANG Tangfa's characteristics of acupuncture academic ideology and clinical treatment of syndrome differentiation].

    PubMed

    Zhang, Hongxing

    2015-10-01

    Through collecting and sorting of works, literature and medical cases regarding professor ZHANG Tangfa, it is found that his acupuncture academic ideology and clinical treatment of syndrome differentiation can be summarized as: tracing the source and paying attention to basic theory, especially the meridian theory and conception vessel and governor vessel; focusing on acupuncture manipulation and emphasizing acupuncture basic skills; highly valuing treating spirit, acquiring and maintaining needling sensation; underlining "three differentiations" that is consisted of syndrome differentiation, disease differentiation and meridian differentiation to guide the clinical prescriptions of acupoints; exploring and ingenious use of scalp acupuncture; being concerned on research of difficult and complicated diseases; advocating comparative studies to optimize the clinical treatment plan; proposing the combination of Chinese and western medicine, including diagnosis, treatment and basic theory, to improve the clinical therapeutic effects of acupuncture.

  2. Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

    PubMed

    Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

    2014-12-01

    We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p < 0.0001), while melena was less common in patients with esophagitis 38% (45/119) than in controls 68% (244/357) (p < 0.0001). Additionally, the more severe the esophagitis, the more frequent was melena. Patients with esophagitis had less abnormal vital signs, lesser decreases in hematocrit, and lesser increases in BUN. Both pre- and postRockall scores were lower in patients with esophagitis compared with controls (p = 0.01, and p < 0.0001, respectively). Length of hospital stay (p = 0.002), rebleeding rate at 42 days (p = 0.0007), and mortality were less in patients with esophagitis than controls. Finally, analysis of patients with esophagitis and cirrhosis suggested that this group of patients had more severe bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with

  3. Utility of MLH1 Methylation Analysis in the Clinical Evaluation of Lynch Syndrome in Women with Endometrial Cancer

    PubMed Central

    Bruegl, Amanda S.; Djordjevic, Bojana; Urbauer, Diana L.; Westin, Shannon N.; Soliman, Pamela T.; Lu, Karen H.; Luthra, Rajyalakshmi; Broaddus, Russell R.

    2013-01-01

    Clinical screening criteria, such as young age of endometrial cancer diagnosis and family history of signature cancers, have traditionally been used to identify women with Lynch Syndrome, which is caused by mutation of a DNA mismatch repair gene. Immunohistochemistry and microsatellite instability analysis have evolved as important screening tools to evaluate endometrial cancer patients for Lynch Syndrome. A complicating factor is that 15-20% of sporadic endometrial cancers have immunohistochemical loss of the DNA mismatch repair protein MLH1 and high levels of microsatellite instability due to methylation of MLH1. The PCR-based MLH1 methylation assay potentially resolves this issue, yet many clinical laboratories do not perform this assay. The objective of this study was to determine if clinical and pathologic features help to distinguish sporadic endometrial carcinomas with MLH1 loss secondary to MLH1 methylation from Lynch Syndrome-associated endometrial carcinomas with MLH1 loss and absence of MLH1 methylation. Of 337 endometrial carcinomas examined, 54 had immunohistochemical loss of MLH1. 40/54 had MLH1 methylation and were designated as sporadic, while 14/54 lacked MLH1 methylation and were designated as Lynch Syndrome. Diabetes and deep myometrial invasion were associated with Lynch Syndrome; no other clinical or pathological variable distinguished the 2 groups. Combining Society of Gynecologic Oncology screening criteria with these 2 features accurately captured all Lynch Syndrome cases, but with low specificity. In summary, no single clinical/pathologic feature or screening criteria tool accurately identified all Lynch Syndrome-associated endometrial carcinomas, highlighting the importance of the MLH1 methylation assay in the clinical evaluation of these patients. PMID:23888949

  4. Utility of MLH1 methylation analysis in the clinical evaluation of Lynch Syndrome in women with endometrial cancer.

    PubMed

    Bruegl, Amanda S; Djordjevic, Bojana; Urbauer, Diana L; Westin, Shannon N; Soliman, Pamela T; Lu, Karen H; Luthra, Rajyalakshmi; Broaddus, Russell R

    2014-01-01

    Clinical screening criteria, such as young age of endometrial cancer diagnosis and family history of signature cancers, have traditionally been used to identify women with Lynch Syndrome, which is caused by mutation of a DNA mismatch repair gene. Immunohistochemistry and microsatellite instability analysis have evolved as important screening tools to evaluate endometrial cancer patients for Lynch Syndrome. A complicating factor is that 15-20% of sporadic endometrial cancers have immunohistochemical loss of the DNA mismatch repair protein MLH1 and high levels of microsatellite instability due to methylation of MLH1. The PCR-based MLH1 methylation assay potentially resolves this issue, yet many clinical laboratories do not perform this assay. The objective of this study was to determine if clinical and pathologic features help to distinguish sporadic endometrial carcinomas with MLH1 loss secondary to MLH1 methylation from Lynch Syndrome-associated endometrial carcinomas with MLH1 loss and absence of MLH1 methylation. Of 337 endometrial carcinomas examined, 54 had immunohistochemical loss of MLH1. 40/54 had MLH1 methylation and were designated as sporadic, while 14/54 lacked MLH1 methylation and were designated as Lynch Syndrome. Diabetes and deep myometrial invasion were associated with Lynch Syndrome; no other clinical or pathological variable distinguished the 2 groups. Combining Society of Gynecologic Oncology screening criteria with these 2 features accurately captured all Lynch Syndrome cases, but with low specificity. In summary, no single clinical/pathologic feature or screening criteria tool accurately identified all Lynch Syndrome-associated endometrial carcinomas, highlighting the importance of the MLH1 methylation assay in the clinical evaluation of these patients.

  5. Clinical and Biochemical Characteristics of Polycystic Ovarian Syndrome among Women in Bangladesh.

    PubMed

    Islam, S; Pathan, F; Ahmed, T

    2015-04-01

    Clinical and Biochemical characteristics age, central obesity, Glucose intolerance, lipid abnormality, thyroid function, prolactin level, clinical signs & symptoms and ultrasonographic ovarian feature of 70 women were studied and prevalence of hyper-prolactinemia, hypothyroidism and Metabolic syndrome were calculated in the Endocrine OPD of BIRDEM during November 2010 to May 2011.Age of the PCOS population was 23.02±7.04 year, central obesity in 81.4%, abnormal glucose tolerance in 47.1%, dyslipidemia in 45.7%, hypertension in 24.3%, hirsutism in 88.6%, acanthosis nigricans in 50%, polycystic ovaries by ultrasound (87%) cases. One third of the PCOS cases i.e.; 33% were without hyperprolactinemia or hypothyroidism or Metabolic Syndrome. And the rest 47 cases had one, two or all the 3 with them. The distribution was PCOS with hyperprolactinemia 18.6%, PCOS with hypothyroidism 11.4%, PCOS with Metabolic Syndrome 15.3%, PCOS with hyperprolactinemia with MS 8.6%, PCOS with hypothyrodism with MS 5.6%, PCOS with hypothyrodism with hyperprolactinemia 4.3% and rest 4.3% had all the 4 in combination. Blood glucose levels during OGTT and TSH levels of the group without Hypothyrid, hyperprolactinoma or Metabolic Syndrome were significantly lower (p≤0.008). Significant proportion of Bangladeshi women with PCOS has hypothyroidsm with or without high prolactin and also have higher incidence of metabolic syndrome. So, all PCOS patients should also be screened for hypothyroidsm and hyperprolactinemia.

  6. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

    PubMed

    Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W

    2015-02-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

  7. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

    PubMed Central

    Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

    2015-01-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

  8. [Analysis of the clinical audiological characteristics in 92 Chinese Alport syndrome cases].

    PubMed

    Chen, Li; Xue, Junfang; Zhang, Yanqin; Wang, Fang; Chen, Siqi; Duan, Jibo; Liu, Yuhe; Ding, Jie

    2014-11-01

    To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype. The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases. Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS); 44 cases had normal hearing, but 14 young cases had abnormal OAE; 48 cases (52.2%, 35 male, 13 female) had sensorineural hearing loss. A total of 44 cases with XLAS had hearing loss (49.4%), wherein the incidence of hearing impairment was 55.0% in male XLAS, and 37.0% in female XLAS. Mild and moderate hearing loss were found in XLAS. Audiometric curves including groove type (21 cases), descending type (13 cases), flat type (10 cases), high frequency drop type (3 cases) and ascending type (1 case) were found in AS. Sixteen mutations of COL4A3, COL4A5 gene were found in 17 cases with Alport syndrome, including severe mutation in 8 cases with moderate hearing impairment. Mild and moderate hearing impairment, and groove type of audiometric curve are mainly found in Chinese Alport syndrome, which is different from Alport syndrome in western countries. OAE in the early diagnosis of hearing loss is important. Hearing phenotype is related certainly with genotype.

  9. Clinical judicial syndrome: The impact of judicial proceedings on doctors.

    PubMed

    Arimany-Manso, Josep; Vizcaíno, Marta; Gómez-Durán, Esperanza L

    2018-04-28

    Complaints of alleged malpractice are a concern for doctors, however the impact these complaints have on them receives little attention. We present a systematic review of the scientific literature by searching the MEDLINE database, without no time limit, of manuscripts on doctors' reaction to a malpractice claim, carried out in Spanish, English and French. Their methodological quality was evaluated, and the results were analysed. The search identified a total of 18 articles, mostly without empirical sample analysis, which described the clinical judicial syndrome construct, its symptomatology, prevalence, etiopathogenesis and issues of prevention and approach. The literature on this subject is very scarce and has poor empirical foundation. However, the available data underscored the relevance of the impact that these complaints have on doctors and highlight the need to establish preventive measures and approaches to the so-called clinical judicial syndrome. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

  10. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    PubMed

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  11. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    PubMed

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

  12. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

    PubMed

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N; Lindor, Noralane M; Young, Joanne; Winship, Ingrid; Dowty, James G; White, Darren M; Hopper, John L; Baglietto, Laura; Jenkins, Mark A; de la Chapelle, Albert

    2008-08-01

    Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Germ-line PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2-fold higher, and the incidence of endometrial cancer was 7.5-fold higher. In North America, this translates to a cumulative cancer risk to age 70 years of 15%-20% for colorectal cancer, 15% for endometrial cancer, and 25%-32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed.

  13. Clinical features and endocrine profile of Laron syndrome in Indian children.

    PubMed

    Phanse-Gupte, Supriya R; Khadilkar, Vaman V; Khadilkar, Anuradha V

    2014-11-01

    Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy.

  14. Munchausen syndrome by proxy: ongoing clinical challenges.

    PubMed

    Squires, Janet E; Squires, Robert H

    2010-09-01

    In 1977, Roy Meadow, a pediatric nephrologist, first described a condition he subsequently coined Munchausen syndrome by proxy. The classic form involves a parent or other caregiver who inflicts injury or induces illness in a child, deceive the treating physician with fictitious or exaggerated information, and perpetrate the trick for months or years. A related form of pathology is more insidious and more common but also damaging. It involves parents who fabricate or exaggerate symptoms of illness in children, causing overly aggressive medical evaluations and interventions. The common thread is that the treating physician plays a role in inflicting the abuse upon the child. Failure to recognize the problem is common because the condition is often not included in the differential diagnosis of challenging or confusing clinical problems. We believe that a heightened "self-awareness" of the physician's role in Munchausen syndrome by proxy will prevent or reduce the morbidity and mortality associated with this diagnosis. In addition, we believe contemporary developments within the modern health care system likely facilitate this condition.

  15. Polycystic ovarian syndrome: clinical and biological diagnosis.

    PubMed

    Bachelot, Anne

    2016-12-01

    Polycystic ovary syndrome (PCOS) is the most common ovarian disorder associated with androgen excess in women, which justifies the growing interest of endocrinologists. This syndrome leads to clinical hyperandrogenism and/or a biological dysovulation and infertility. Its diagnosis is based on consensual diagnostic criteria, but which are likely to change in the near future with the rise of the interest of new markers such as AMH. Diagnostic tools of PCOS are also discussed, with emphasis on the laboratory evaluation of androgens and other potential biomarkers of ovarian and metabolic dysfunctions. The exact etiology of PCOS is unknown and is likely multifactorial. Many studies indicate that PCOS results from originally ovarian abnormalities. In some patients, secondary hyperinsulinemia with insulin resistance plays a role in the pathophysiology. In addition, the relevant impact of metabolic issues, specifically insulin resistance and obesity, on the pathogenesis of PCOS, and the susceptibility to develop earlier than expected glucose intolerance states, including type 2 diabetes, has supported the notion that these aspects should be considered when defining the PCOS phenotype and planning potential therapeutic strategies in an affected subject.

  16. [Clinical case of management of a patient with Guillain-Barre syndrome].

    PubMed

    Popov, A V; Babak, C I; Murashko, N K

    2012-01-01

    Syndrome of Giyena-Barre can arise up in any age, in different regions, for men more frequent, than for women. There are descriptions of clinical supervisions of syndrome in domestic literature, combining with the defeat of the nervous system as a result of different pathogens which are procatarxiss in the start of mechanisms of immune attack on the albumens of mielina. However this disease continues to remain one of most heavy, requiring neyroreanimacionnykh measures, that causes the necessity of development of new methods of treatment in same queue.

  17. The changing face of Usher syndrome: clinical implications.

    PubMed

    Cohen, Mazal; Bitner-Glindzicz, Maria; Luxon, Linda

    2007-02-01

    Usher syndrome is both genetically and phenotypically heterogeneous. Traditionally, the condition has been classified into three clinical types, differentiated by the severity and progression of the hearing impairment and by the presence or absence of vestibular symptoms. Recent advances in molecular genetics have enabled researchers to study the phenotypic expression in confirmed molecular groups of Usher. In response to the expansion of clinical and genetic information on Usher, we report an up to date review of the different clinical forms of Usher in known molecular groups and use the emerging evidence to appraise the diagnostic utility of the traditional classification of Usher. Our findings undermine the traditional view that the clinical types of Usher have distinct genetic causes. The pleiotropic effects of some of the major causes of Usher lead to considerable overlap between the different clinical types, with very little evidence for phenotypic-genotypic correlations. The novel synthesis emerging from this review suggests more productive approaches to the diagnosis of Usher in hearing-impaired children which would provide more accurate prognostic information to families.

  18. Clinical and histological characteristics of canine ocular gliovascular syndrome.

    PubMed

    Treadwell, Amy; Naranjo, Carolina; Blocker, Tiffany; Zarfoss, Mitzi; Dubielzig, Richard R

    2015-09-01

    To characterize the clinical, diagnostic, and histopathologic findings in dogs with canine ocular gliovascular syndrome (COGS). The archives at the Comparative Ocular Pathology Laboratory of Wisconsin (COPLOW) were used to identify eyes with COGS. Histopathological inclusion criteria included: a neovascular membrane extending from the optic nerve head or retina, clusters of spindle cells lacking vascularization within the vitreous, and histological signs of glaucoma. Special and immunohistochemical (IHC) staining techniques were performed. Clinical data, treatments, and outcomes were obtained from case records and information provided by submitting veterinarians. Thirty-seven eyes of 36 dogs were identified with COGS. The average age at diagnosis was 8.8 years (±2.2). The relative risk for a Labrador retriever affected by COGS was significantly greater (9.3 times) (P < 0.0001) when compared to all other dog breeds within the COPLOW database. Most dogs presented with hyphema and secondary glaucoma; average intraocular pressure was 39 mmHg (±19). Average time to enucleation or evisceration was 27 days. Vitreal cells stained positive with IHC for glial fibrillary acidic protein in 14 of 17 globes, and vascular endothelial growth factor was expressed in the vitreal cells in five of five globes. We have defined a syndrome associated with vitreal glial cell aggregates and neovascular proliferation from the optic nerve or retina, which leads to neovascular glaucoma. The inflammation and secondary glaucoma resulting from this syndrome appear poorly responsive to conventional medical therapies. The exact etiology of COGS remains undetermined, but a systemic etiology is unlikely. © 2014 American College of Veterinary Ophthalmologists.

  19. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    PubMed

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. © 2015 Society for Endocrinology.

  20. Brugada Syndrome. Clinical, Genetic, Molecular, Cellular and Ionic Aspects

    PubMed Central

    Antzelevitch, Charles; Patocskai, Bence

    2015-01-01

    The Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome first described as a new clinical entity in 1992. Electrocardiographically characterized by distinct coved type ST segment elevation in the right precordial leads, the syndrome is associated with a high risk for sudden cardiac death in young adults, and less frequently in infants and children. The ECG manifestations of the BrS are often concealed and may be unmasked or aggravated by sodium channel blockers, a febrile state, vagotonic agents, as well as by tricyclic and tetracyclic antidepressants. An implantable cardioverter defibrillator (ICD) is the most widely accepted approach to therapy. Pharmacological therapy is designed to produce an inward shift in the balance of currents active during the early phases of the right ventricular action potential and can be used to abort electrical storms or as an adjunct or alternative to device therapy when use of an ICD is not possible. Isoproterenol, cilostazol and milrinone boost calcium channel current and drugs like quinidine, bepridil and the Chinese herb extract Wenxin Keli inhibit the transient outward current, acting to diminish the action potential (AP) notch and thus to suppress the substrate and trigger for VT/VF. Radiofrequency ablation of the right ventricular outflow tract epicardium of BrS patients has recently been shown to reduce arrhythmia-vulnerability and the ECG-manifestation of the disease, presumably by destroying the cells with more prominent AP notch. This review provides an overview of the clinical, genetic, molecular and cellular aspects of the BrS as well as the approach to therapy. PMID:26671757

  1. 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.

  2. Bullous Complex Regional Pain Syndrome: A description of the clinical and histopathologic features.

    PubMed

    Ho, J D; Al-Haseni; Smith, S; Bhawan, J; Sahni, D

    2018-04-27

    Complex regional pain syndrome (CRPS, formerly reflex sympathetic dystrophy) is a poorly understood syndrome occurring most commonly after peripheral trauma.(1) Diagnostic features include pain, autonomic dysregulation, sensory/motor abnormalities and trophic changes involving the affected limb.(1,2) Dermatologic findings include erythema, atrophy, xerosis, erosive disease, and reticulated erythematous patches.(3,4) Exceptionally, blistering has been reported.(5-7) Given its rarity, the clinical and histopathologic findings of bullous CRPS are not well described. We report a case of bullous CRPS in a patient with mycosis fungoides (MF), describing the clinical and histopathologic features of this uncommon entity. This article is protected by copyright. All rights reserved.

  3. The Francis Scott Key School, Locust Point, Baltimore, Maryland. Bulletin, 1920, No. 41

    ERIC Educational Resources Information Center

    Bennett, Charles A.

    1921-01-01

    Some time ago the Commissioner of Education was requested to offer advice in regard to the reorganization of the Francis Scott Key School, to meet more effectively the needs of its children and the adult population of that section, and to suggest plans for a building to be so constructed as to adapt it to the use of the school so reorganized. In…

  4. 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.

  5. New developments in Silver–Russell syndrome and implications for clinical practice

    PubMed Central

    Ishida, Miho

    2016-01-01

    Silver–Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver–Russell syndrome cases, while ˜50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ˜40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver–Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed. PMID:27066913

  6. Foot orthoses and physiotherapy in the treatment of patellofemoral pain syndrome: A randomised clinical trial

    PubMed Central

    Vicenzino, Bill; Collins, Natalie; Crossley, Kay; Beller, Elaine; Darnell, Ross; McPoil, Thomas

    2008-01-01

    Background Patellofemoral pain syndrome is a highly prevalent musculoskeletal overuse condition that has a significant impact on participation in daily and physical activities. A recent systematic review highlighted the lack of high quality evidence from randomised controlled trials for the conservative management of patellofemoral pain syndrome. Although foot orthoses are a commonly used intervention for patellofemoral pain syndrome, only two pilot studies with short term follow up have been conducted into their clinical efficacy. Methods/design A randomised single-blinded clinical trial will be conducted to investigate the clinical efficacy and cost effectiveness of foot orthoses in the management of patellofemoral pain syndrome. One hundred and seventy-six participants aged 18–40 with anterior or retropatellar knee pain of non-traumatic origin and at least six weeks duration will be recruited from the greater Brisbane area in Queensland, Australia through print, radio and television advertising. Suitable participants will be randomly allocated to receive either foot orthoses, flat insoles, physiotherapy or a combined intervention of foot orthoses and physiotherapy, and will attend six visits with a physiotherapist over a 6 week period. Outcome will be measured at 6, 12 and 52 weeks using primary outcome measures of usual and worst pain visual analogue scale, patient perceived treatment effect, perceived global effect, the Functional Index Questionnaire, and the Anterior Knee Pain Scale. Secondary outcome measures will include the Lower Extremity Functional Scale, McGill Pain Questionnaire, 36-Item Short-Form Health Survey, Hospital Anxiety and Depression Scale, Patient-Specific Functional Scale, Physical Activity Level in the Previous Week, pressure pain threshold and physical measures of step and squat tests. Cost-effectiveness analysis will be based on treatment effectiveness against resource usage recorded in treatment logs and self-reported diaries

  7. 76 FR 39812 - Scotts Miracle-Gro Co.; Regulatory Status of Kentucky Bluegrass Genetically Engineered for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-07

    ...] Scotts Miracle-Gro Co.; Regulatory Status of Kentucky Bluegrass Genetically Engineered for Herbicide... engineered for herbicide tolerance without the use of plant pest components, does not meet the definition of... has been genetically engineered for herbicide tolerance, does not meet the definition of a regulated...

  8. Clinical management of the hypereosinophilic syndromes.

    PubMed

    Cogan, Elie; Roufosse, Florence

    2012-06-01

    Hypereosinophilic syndromes (HESs) are rare disorders characterized by marked hypereosinophilia that is directly responsible for organ damage or dysfunction. Different pathogenic mechanisms have been discovered in patient subgroups leading to the characterization of myeloproliferative and lymphocytic disease variants. In the updated terminology, idiopathic HES is now restricted to patients with HES of undetermined etiology. The practical clinical approach of patients with the different HES variants is reviewed herein, focusing on specific diagnostic tools and therapeutic options. Corticosteroids, hydroxyurea and IFN-α remain the classical agents for treatment of most patients with HESs. The specific role of therapeutic compounds that have become available more recently, namely, tyrosine kinase inhibitors and IL-5 antagonists, is discussed.

  9. Association of Cholesterol Efflux Capacity With Clinical Features of Metabolic Syndrome: Relevance to Atherosclerosis.

    PubMed

    Gall, Julie; Frisdal, Eric; Bittar, Randa; Le Goff, Wilfried; Bruckert, Eric; Lesnik, Philippe; Guerin, Maryse; Giral, Philippe

    2016-11-23

    The contribution of high-density lipoprotein to cardiovascular benefit is closely linked to its role in the cellular cholesterol efflux process; however, various clinical and biochemical variables are known to modulate the overall cholesterol efflux process. The aim of this study was to evaluate the extent to which clinical and biological anomalies associated with the establishment of the metabolic syndrome modulate cholesterol efflux capacity and contribute to development of atherosclerosis. This study involved patients (n=1202) displaying atherogenic dyslipidemia in primary prevention who were referred to our prevention center. Among these patients, 25% presented at least 3 criteria of the metabolic syndrome, as defined by the National Cholesterol Education Program Adult Treatment Panel III. We measured the capacity of 40-fold diluted serum to mediate cholesterol efflux from cholesterol-loaded human THP-1 macrophages. Cholesterol efflux capacity was reduced progressively by 4% to 11% (P<0.0001) as a function of the increasing number of coexisting criteria for the metabolic syndrome from 1 to 5. This observation was primarily related to reductions in scavenger receptor class B member 1 and ATP binding cassette subfamily G member 1-dependent efflux. Multivariate analyses indicate that serum efflux capacity was significantly associated with established metabolic syndrome (odds ratio 0.45; 95% CI 0.28-0.72; P=0.009) independent of age, low-density lipoprotein cholesterol, status with regard to lipid-lowering therapy, smoking status, and alcohol consumption. Our study revealed that individual criteria of metabolic syndrome are closely related synergistically to cholesterol efflux capacity. In addition, established metabolic syndrome and cholesterol efflux capacity were independently associated with clinical features of atherosclerosis. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  10. Studies on the presence and spatial distribution of anthropogenic pollutants in the glacial basin of Scott Glacier in the face of climate change (Fiord Bellsund, Spitsbergen)

    NASA Astrophysics Data System (ADS)

    Lehmann, Sara; Kociuba, Waldemar; Franczak, Łukasz; Gajek, Grzegorz; Łeczyński, Leszek; Kozak, Katarzyna; Szopińska, Małgorzata; Ruman, Marek; Polkowska, Żaneta

    2014-10-01

    The study area covered the NW part of the Wedel Jarlsberg Land (SW part of the Svalbard Archipelago). The primary study object was the catchment of the Scott Glacier in the vicinity of the Research Station of of Maria Curie-Skłodowska University in Lublin - Calypsobyen. The Scott River catchment (of glacial hydrological regime) has an area of approximately 10 km2, 40% of which is occupied by the valley Scott Glacier in the phase of strong recession. The present study concerns the determination of physical and chemical parameters (pH, conductivity, TOC) and concentrations of pollutants (phenols, aldehydes).

  11. A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

    PubMed Central

    Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

    2017-01-01

    Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group. PMID:28790548

  12. [The post-discectomy syndrome: clinical and electroneuromyographic characteristics and methods of treatment].

    PubMed

    Musaev, A V; Guseĭnova, S G; Musaeva, I R

    2008-01-01

    The data of the Azerbaijan Neurosurgical Center, including 2618 case-reports of patients operated on for low back discal hernia between 1997 and 2002, have been analyzed. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented.

  13. 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.

  14. Developmental Right-Hemisphere Syndrome: Clinical Spectrum of the Nonverbal Learning Disability.

    ERIC Educational Resources Information Center

    Gross-Tsur, Varda; And Others

    1995-01-01

    This study reports clinical characteristics of developmental right-hemisphere syndrome, a nonverbal learning disability, in 20 children (mean age 9.5 years) who also manifested attention-deficit/hyperactivity disorder, graphomotor problems, and slow performance. Diagnostic criteria included emotional and interpersonal difficulties, paralinguistic…

  15. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    PubMed Central

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  16. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

    PubMed

    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

    2016-01-01

    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  17. Clinical Characteristics, Management, and Outcomes of Suspected Poststroke Acute Coronary Syndrome

    PubMed Central

    De Venecia, Toni Anne; Wongrakpanich, Supakanya; Rodriguez-Ziccardi, Mary; Yadlapati, Sujani; Kishlyansky, Marina; Rammohan, Harish Seetha; Figueredo, Vincent M.

    2017-01-01

    Background Acute coronary syndrome (ACS) can complicate acute ischemic stroke, causing significant morbidity and mortality. To date, literatures that describe poststroke acute coronary syndrome and its morbidity and mortality burden are lacking. Methods This is a single center, retrospective study where clinical characteristics, cardiac evaluation, and management of patients with suspected poststroke ACS were compared and analyzed for their association with inpatient mortality and 1-year all-cause mortality. Results Of the 82 patients, 32% had chest pain and 88% had ischemic ECG changes; mean peak troponin level was 18, and mean ejection fraction was 40%. The medical management group had older individuals (73 versus 67 years, p < 0.05), lower mean peak troponin levels (12 versus 49, p < 0.05), and lower mean length of stay (12 versus 25 days, p < 0.05) compared to those who underwent stent or CABG. Troponin levels were significantly associated with 1-year all-cause mortality. Conclusion Age and troponin level appear to play a role in the current clinical decision making for patient with suspected poststroke ACS. Troponin level appears to significantly correlate with 1-year all-cause mortality. In the management of poststroke acute coronary syndrome, optimal medical therapy had similar inpatient and all-cause mortality compared to PCI and/or CABG. PMID:29130017

  18. [Professor ZHENG Kuishan's experience in the clinical treatment of bi syndrome with acupuncture and moxibustion].

    PubMed

    Liu, Baohu; Zheng, Jiatai; Guo, Yongming

    2015-06-01

    Professor ZHENG Kuishan has been engaged in the education and clinical practice of acupuncture and moxibustion for over 60 years. Professor ZHENG is strict in scholarly research and exquisite in medical techniques and he is good at treatment of bi syndrome induced by invasion of wind, cold and damp with warming and, promoting therapy. He emphasizes on syndrome differentiation and acupoint combination and selects the accurate manipulations. Not only are the symptoms relieved apparently, but also the body state is improved. As a result, the primary and secondary are treated simultaneously. In the paper, professor ZHENG's experience is introduced in the treatment of bi syndrome in the aspects of theory, method, formula, acupoint and technique. And his clinical therapeutic approaches have been deeply analyzed.

  19. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    PubMed Central

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  20. Clinical features and endocrine profile of Laron syndrome in Indian children

    PubMed Central

    Phanse-Gupte, Supriya R.; Khadilkar, Vaman V.; Khadilkar, Anuradha V.

    2014-01-01

    Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. Material and Methods: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. Results and Discussion: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. Conclusion: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy. PMID:25364685

  1. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

    PubMed

    Angulo, M A; Butler, M G; Cataletto, M E

    2015-12-01

    Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental disomy 15 (20-30 % of cases), and imprinting defect (1-3 %). DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from Angelman syndrome. Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the individual ages, other features such as short stature, food seeking with excessive weight gain, developmental delay, cognitive disability and behavioral problems become evident. The phenotype is likely due to hypothalamic dysfunction, which is responsible for hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency. Obesity and its complications are the major causes of morbidity and mortality in PWS. An extensive review of the literature was performed and interpreted within the context of clinical practice and frequently asked questions from referring physicians and families to include the current status of the cause and diagnosis of the clinical, genetics and endocrine findings in PWS. Updated information regarding the early diagnosis and management of individuals with Prader-Willi syndrome is important for all physicians and will be helpful in anticipating and managing or modifying complications associated with this rare obesity-related disorder.

  2. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    PubMed

    Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J

    2017-03-01

    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders.

  3. Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

    PubMed

    Cortés-Vicente, Elena; Pradas, Jesús; Marín-Lahoz, Juan; De Luna, Noemi; Clarimón, Jordi; Turon-Sans, Janina; Gelpí, Ellen; Díaz-Manera, Jordi; Illa, Isabel; Rojas-Garcia, Ricard

    2017-08-01

    To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

  4. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

    PubMed

    Tsilou, Ekaterini T; Rubin, Benjamin I; Caruso, Rafael C; Reed, George F; Pikus, Anita; Hejtmancik, James F; Iwata, Fumino; Redman, Joy B; Kaiser-Kupfer, Muriel I

    2002-04-01

    Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. We undertook the current study in order to identify ocular symptoms and signs that could differentiate between the two types. Sixty-seven patients with Usher syndrome were evaluated. Based on audiologic and vestibular findings, patients were classified as either Usher type I or II. The severity of the ocular signs and symptoms present in each type were compared. Visual acuity, visual field area, electroretinographic amplitude, incidence of cataract and macular lesions were not significantly different between Usher types I and II. However, the ages when night blindness was perceived and retinitis pigmentosa was diagnosed differed significantly between the two types. There seems to be some overlap between types I and II of Usher syndrome in regard to the ophthalmologic findings. However, night blindness appears earlier in Usher type I (although the difference in age of appearance appears to be less dramatic than previously assumed). Molecular elucidation of Usher syndrome may serve as a key to understanding these differences and, perhaps, provide a better tool for use in clinical diagnosis, prognosis and genetic counseling.

  5. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

    PubMed

    Seys, Elsa; Andrini, Olga; Keck, Mathilde; Mansour-Hendili, Lamisse; Courand, Pierre-Yves; Simian, Christophe; Deschenes, Georges; Kwon, Theresa; Bertholet-Thomas, Aurélia; Bobrie, Guillaume; Borde, Jean Sébastien; Bourdat-Michel, Guylhène; Decramer, Stéphane; Cailliez, Mathilde; Krug, Pauline; Cozette, Paul; Delbet, Jean Daniel; Dubourg, Laurence; Chaveau, Dominique; Fila, Marc; Jourde-Chiche, Noémie; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Djeddi, Djamal; Llanas, Brigitte; Louillet, Ferielle; Merieau, Elodie; Mileva, Maria; Mota-Vieira, Luisa; Mousson, Christiane; Nobili, François; Novo, Robert; Roussey-Kesler, Gwenaëlle; Vrillon, Isabelle; Walsh, Stephen B; Teulon, Jacques; Blanchard, Anne; Vargas-Poussou, Rosa

    2017-08-01

    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene ( CLCNKB ), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes. Copyright © 2017 by the American Society of Nephrology.

  6. Changes in concentration of contaminants in Scott Creek, Western North Carolina

    NASA Astrophysics Data System (ADS)

    Allmendinger, N. E.; Clapp, R. B.

    2004-12-01

    Scott Creek is a 4th-order gravel-bedded stream in the Little Tennessee watershed in a mountainous region of Western North Carolina. The region is highly dependent on this river for water contact sports and input for a paper mill. Recently, water sample have shown high levels of fecal coliform in spite of efforts to fix a broken sewer pipeline and eliminate straight-piping. Our objective is to assess the current quality of the water, and to devise methods for future monitoring and prediction of contaminant concentration in the river. During a 5-day period in July 2004, we monitored the stage and velocity of the river as well as the concentration of nitrates, reactive phosphorous and fecal coliform in the water. Our results suggest that the nutrients and the bacteria counts vary in phase with the river discharge. Our analysis of the data leads us to conclude that both discharge and E. coli concentration are related to precipitation. The relationship between river stage and precipitation is complex, requiring a "multiple" regression equation which plots Q as a function of the previous 3 days of rainfall. The relationship between E. coli concentration and precipitation is much simpler, showing that the abundance of bacteria varies directly with daily rainfall. We infer from our data that it is unlikely that E. coli in Scott's Creek has a "point" source, suggesting that the bacterial contamination is related to undetected straight pipes and not to a steady sewer failure.

  7. How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

    PubMed

    Downs, Jenny; Forbes, David; Johnson, Michael; Leonard, Helen

    2016-08-01

    Rett syndrome is a rare disorder caused by a mutation in the MECP2 gene. Those affected generally have severe functional impairments, and medical comorbidities such as scoliosis and poor growth are common. There is a paucity of information on the natural history of many rare disorders and an even greater deficit of evidence to guide best practice. The population-based and longitudinal Australian Rett Syndrome Database established in 1993 has supported investigations of the natural history of Rett syndrome and effectiveness of treatments. This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework. Compared with conservative management, we have shown that spinal fusion is associated with reduced mortality and better respiratory health. We have also shown that gastrostomy insertion is associated with subsequent weight gain. Family counselling for both procedures necessarily must include family perspectives and careful clinical attention to their needs and wishes. Vignettes describing family decision-making and experiences are presented to illustrate the principals of beneficence and autonomy in determining the best interests of the child and family. A blend of evidence-based practice with a strong clinical ethics framework has capacity to build existing strengths in families and reduce the negative impacts of disability and in so doing, optimise the health and wellbeing of those with Rett syndrome. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  8. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

    PubMed

    Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

    2009-10-01

    Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

  9. Meningitis-retention syndrome. An unrecognized clinical condition.

    PubMed

    Sakakibara, Ryuji; Uchiyama, Tomoyuki; Liu, Zhi; Yamamoto, Tatsuya; Ito, Takashi; Uzawa, Akiyuki; Suenaga, Tadahiro; Kanai, Kazuaki; Awa, Yusuke; Sugiyama, Yoshiki; Hattori, Takamichi

    2005-12-01

    A combination of acute urinary retention and aseptic meningitis has not been well known. This combination can be referred to as meningitis-retention syndrome (MRS), when accompanied by no other abnormalities. To describe the results of a uro-neurological assessment in our patients with MRS. In three patients (two men, one woman; age, 34-68 years), we performed urodynamic studies and relevant imaging and neurophysiological tests, in addition to cerebrospinal fluid (CSF) examination. All three patients developed acute urinary retention along with headache, fever and stiff neck. None had obvious neurological abnormalities, other than a slightly brisk reflex in the lower extremities. One had previously experienced generalized erythematous eruptions, but none had pain, hypalgesia or skin eruptions in the sacral dermatomes suggestive of Elsberg syndrome (infectious sacral polyradiculitis; mostly genital herpes). Brain/spinal/lumbar plexus MRI scans and nerve conduction studies were normal. CSF examination showed mild mononuclear pleocytosis, increased protein content, and normal to mildly decreased glucose content in all patients; increased myelin basic protein suggestive of central nervous system demyelination in one; and increased viral titers in none. Urodynamic study revealed, during the voiding phase, an underactive detrusor in all patients and an unrelaxing sphincter in one. These clinical manifestations were ameliorated within 3 weeks. We reported three cases of MRS, a peculiar syndrome that could be regarded as a mild variant of acute disseminated encephalomyelitis (ADEM). Urinary retention might reflect acute shock phase of this disorder. Although MRS has a benign and self-remitting course, management of the acute urinary retention is necessary.

  10. Conservation assessment for the Siskiyou Mountains salamander and Scott Bar salamander in northern California.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Vinikour, W. S.; LaGory, K. E.; Adduci, J. J.

    2006-10-20

    The purpose of this conservation assessment is to summarize existing knowledge regarding the biology and ecology of the Siskiyou Mountains salamander and Scott Bar salamander, identify threats to the two species, and identify conservation considerations to aid federal management for persistence of the species. The conservation assessment will serve as the basis for a conservation strategy for the species.

  11. Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

    PubMed

    Yiş, Uluç; Becker, Kerstin; Kurul, Semra Hız; Uyanik, Gökhan; Bayram, Erhan; Haliloğlu, Göknur; Polat, Ayşe İpek; Ayanoğlu, Müge; Okur, Derya; Tosun, Ayşe Fahriye; Serdaroğlu, Gül; Yilmaz, Sanem; Topaloğlu, Haluk; Anlar, Banu; Cirak, Sebahattin; Engel, Andrew G

    2017-07-01

    Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.

  12. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.

    PubMed

    Ajayi, Oluwaseun Jessica; Smith, Ebony Jeannae; Viangteeravat, Teeradache; Huang, Eunice Y; Nagisetty, Naga Satya V Rao; Urraca, Nora; Lusk, Laina; Finucane, Brenda; Arkilo, Dimitrios; Young, Jennifer; Jeste, Shafali; Thibert, Ronald; Reiter, Lawrence T

    2017-10-18

    Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies. ©Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat

  13. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Bianconi, Simona E.; Cross, Joanna L.; Wassif, Christopher A.; Porter, Forbes D.

    2015-01-01

    Introduction Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. Areas covered In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. Expert opinion Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials. PMID:25734025

  14. Anti-PIT-1 antibody syndrome; a novel clinical entity leading to hypopituitarism.

    PubMed

    Bando, Hironori; Iguchi, Genzo; Yamamoto, Masaaki; Hidaka-Takeno, Ryoko; Takahashi, Yutaka

    2015-03-01

    Various hypothalamic-pituitary diseases cause hypopituitarism. Inflammation related to autoimmunity also causes hypopituitarism. Hypophysitis is a representative disease caused by autoimmunity. Generally, anterior pituitary hormones are non-specifically impaired in this condition, but specific hormone defects have been reported in some cases. Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone. Circulating anti-PIT-1 antibody along with various autoantibodies are detected with multiple endocrine organopathy, meeting the definition of autoimmune polyglandular syndrome. Mechanistically, cytotoxic T lymphocytes that specifically react with PIT-1 protein play an important role in the development of this syndrome.

  15. An assessment of the complications of the Brantley Scott artificial sphincter.

    PubMed

    Heathcote, P S; Galloway, N T; Lewis, D C; Stephenson, T P

    1987-08-01

    A Brantley Scott artificial sphincter has been inserted into 95 patients since 1981; more than half of the patients had lower urinary tract neuropathy and most of the others post-TUR incontinence. The main problem with the device has been cuff failure (12), which should be resolved by the new "dipped" cuffs. The major surgical complication has been erosion (10), usually associated with infection. Twenty-four patients had variable degrees of incontinence but the artificial sphincter remains the cornerstone of continence control when other methods have failed or are inappropriate.

  16. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

    PubMed

    Gerards, Mike; Sallevelt, Suzanne C E H; Smeets, Hubert J M

    2016-03-01

    Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live births. Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described. The disease course is characterized by a rapid deterioration of cognitive and motor functions, in most cases resulting in death due to respiratory failure. Despite the high genetic heterogeneity of Leigh syndrome, patients present with identical, symmetrical lesions in the basal ganglia or brainstem on MRI, while additional clinical manifestations and age of onset varies from case to case. To date, mutations in over 60 genes, both nuclear and mitochondrial DNA encoded, have been shown to cause Leigh syndrome, still explaining only half of all cases. In most patients, these mutations directly or indirectly affect the activity of the mitochondrial respiratory chain or pyruvate dehydrogenase complex. Exome sequencing has accelerated the discovery of new genes and pathways involved in Leigh syndrome, providing novel insights into the pathophysiological mechanisms. This is particularly important as no general curative treatment is available for this devastating disorder, although several recent studies imply that early treatment might be beneficial for some patients depending on the gene or process affected. Timely, gene-based personalized treatment may become an important strategy in rare, genetically heterogeneous disorders like Leigh syndrome, stressing the importance of early genetic diagnosis and identification of new genes/pathways. In this review, we provide a comprehensive overview of the most important clinical manifestations and genes/pathways involved in Leigh syndrome, and discuss the current state of therapeutic interventions in patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Clinical epidemiology survey of the traditional Chinese medicine etiology and syndrome differentiation of coronary artery disease: study protocol of a multicenter trial.

    PubMed

    Bi, Ying-fei; Mao, Jing-yuan; Wang, Xian-liang; Hou, Ya-zhu; Lu, Yi-zhu; Soh, Shan Bin; Zhang, Bo-li

    2012-06-01

    Coronary artery disease (CAD), a common disease with high incidence and mortality rate, has seriously threatened the health and life of the public. Traditional Chinese medicine (TCM) has an important role in the prevention and treatment of this disease. Through clinical epidemiological survey, a deeper understanding of TCM etiology and syndrome characteristics in CAD would further improve clinical efficacy in the treatment of this disease. The preliminary clinical questionnaire for TCM etiology and syndrome differentiation in CAD was designed after literature reviews and analysis. Through a series of clinical pre-surveys, expert consultation and demonstration, the formal TCM clinical epidemiology questionnaire on the etiology and syndrome differentiation in CAD was finalized, after which, the study protocol, inclusive and exclusive criteria and related quality control measures were prepared. The multiregional clinical epidemiological survey with more than 5000 participants with CAD will be carried out in 41 TCM hospitals of China for investigating the TCM etiology and syndrome differentiation of CAD. Multiregion large sample size clinical epidemiology survey on TCM etiology and syndrome differentiation in CAD will provide further evidence in preventing CAD and improving the standardization process of syndrome research. This study protocol was registered at the Chinese Clinical Trial Registry on November 27, 2011 in both Chinese and English editions and the registration number is ChiCTR-ECS-11001728.

  18. Astronaut Scott Parazynski works with PCG experiment on middeck

    NASA Image and Video Library

    1994-11-14

    STS066-13-029 (3-14 Nov 1994) --- On the Space Shuttle Atlantis' mid-deck, astronaut Scott E. Parazynski, mission specialist, works at one of two areas onboard the Shuttle which support the Protein Crystal Growth (PCG) experiment. This particular section is called the Vapor Diffusion Apparatus (VDA), housed in a Single Locker Thermal Enclosure (STES). Together with the Crystal Observation System, housed in the Thermal Enclosure System (COS/TES) the VDA represents the continuing research into the structures of proteins and other macromolecules such as viruses. In addition to using the microgravity of space to grow high-quality protein crystals for structural analyses, the experiments are expected to help develop technologies and methods to improve the protein crystallization process on Earth as well as in space.

  19. The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms

    PubMed Central

    Tam, Elaine; Young, Edwin J.; Morris, Colleen A.; Marshall, Christian R.; Loo, Wayne; Scherer, Stephen W.; Mervis, Carolyn B.; Osborne, Lucy R.

    2010-01-01

    Williams–Beuren syndrome (WBS) is caused by a ~1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv-1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv-1. We show that individuals with clinical symptoms and WBSinv-1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv-1 and clinical symptoms. We also demonstrate that individuals with WBSinv-1 show normal expression of genes from the WBS region. These results suggest that WBSinv-1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. PMID:18553513

  20. 77 FR 35689 - Guidance for Industry on Irritable Bowel Syndrome-Clinical Evaluation of Drugs for Treatment...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-14

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2010-D-0146] Guidance for Industry on Irritable Bowel Syndrome--Clinical Evaluation of Drugs for Treatment; Availability...). The document announced the availability of a guidance for industry entitled ``Irritable Bowel Syndrome...

  1. Surviving Rescue: A Feminist Reading of Scott O'Dell's "Island of the Blue Dolphins"

    ERIC Educational Resources Information Center

    Baecker, Diann L.

    2007-01-01

    Scott O'Dell's "Island of the Blue Dolphins" tells the archetypal story of the young, virgin, orphan girl who is vulnerable to either debauchery or rescue. That such a girl must succumb to either one or the other is a necessary element of the archetype. In O'Dell's work--one intended, after all, for children--the heroine is rescued by a…

  2. Clinical and demographic characteristics and functional status of the patients with fibromyalgia syndrome

    PubMed Central

    Sahin, Nilay; Atik, Aziz; Dogan, Erdal

    2014-01-01

    OBJECTIVE: To investigate the clinical and demographic characteristics and functional status of the patients with fibromyalgia syndrome (FMS). METHODS: Ninety-four patients with the diagnosis of FMS were included in the study. All patients were evaluated with short form 36 for quality of life (SF-36), pain, depression, benign joint hypermobility syndrome (BJHS), myofacial pain syndrome (MPS), and demogrophic characteristics. End-point measurements were SF-36 for quality of life, visual analogue scale, Beck Depression Index, anamnesis, and physical examination. RESULTS: The majority of the patients were women who were suffering from generalised pain with a median age of 40.4. Mostly depression and sleep disorders were accompanying the syndrome. Physical examination revealed MPS and BJHS in most of the patients. CONCLUSION: BJHS and MPS must also be investigated in patients with the diagnosis of FMS. PMID:28058309

  3. Evaluation of Asperger Syndrome in Youth Presenting to a Gender Dysphoria Clinic

    PubMed Central

    Reisner, Sari L.; Edwards-Leeper, Laura; Tishelman, Amy

    2016-01-01

    Abstract Purpose: There is evolving evidence that children and adolescents with gender dysphoria have higher-than-expected rates of autism spectrum disorder (ASD), yet clinical data on ASD among youth with gender dysphoria remain limited, particularly in North America. This report aims to fill this gap. Methods: We conducted a retrospective review of patient chart data from 39 consecutive youth ages 8 to 20 years (mean age 15.8 years, natal male: n = 22, natal female: n = 17) presenting for evaluation at a multidisciplinary gender clinic in a large U.S. pediatric hospital from 2007 to 2011 to evaluate the prevalence of ASD in this patient population. Results: Overall, 23.1% of patients (9/39) presenting with gender dysphoria had possible, likely, or very likely Asperger syndrome as measured by the Asperger Syndrome Diagnostic Scale (ASDS). Conclusion: These findings are consistent with growing evidence supporting increased prevalence of ASD in gender dysphoric children. To guide provision of optimal clinical care and therapeutic intervention, routine assessment of ASD is recommended in youth presenting for gender dysphoria. PMID:26651183

  4. Evaluation of Asperger Syndrome in Youth Presenting to a Gender Dysphoria Clinic.

    PubMed

    Shumer, Daniel E; Reisner, Sari L; Edwards-Leeper, Laura; Tishelman, Amy

    2016-10-01

    There is evolving evidence that children and adolescents with gender dysphoria have higher-than-expected rates of autism spectrum disorder (ASD), yet clinical data on ASD among youth with gender dysphoria remain limited, particularly in North America. This report aims to fill this gap. We conducted a retrospective review of patient chart data from 39 consecutive youth ages 8 to 20 years (mean age 15.8 years, natal male: n = 22, natal female: n = 17) presenting for evaluation at a multidisciplinary gender clinic in a large U.S. pediatric hospital from 2007 to 2011 to evaluate the prevalence of ASD in this patient population. Overall, 23.1% of patients (9/39) presenting with gender dysphoria had possible, likely, or very likely Asperger syndrome as measured by the Asperger Syndrome Diagnostic Scale (ASDS). These findings are consistent with growing evidence supporting increased prevalence of ASD in gender dysphoric children. To guide provision of optimal clinical care and therapeutic intervention, routine assessment of ASD is recommended in youth presenting for gender dysphoria.

  5. [Assessment of the results of syndrome in clinical trials of dementia treated by Chinese herbal medicine].

    PubMed

    Ni, Jing-nian; Shi, Jing; Tian, Jin-zhou; Liu, Bing-lin; Liu, Jian-ping; Liu, Tong-hua; Xu, Shi-qian; Cui, Gong-ping; Wang, Yong-yan

    2013-03-01

    Chinese medical syndrome efficacy, as a second efficacy indicator, has been widely used in clinical trials of treating dementia by Chinese herbal medicine. The syndrome assessment tool is a key point in assessing the efficacy of Chinese medical syndrome. The syndrome assessment tool for dementia used nowadays needs to be optimized in content, reliability, and validity. In this paper, the authors reviewed some problems correlated with the design of Chinese medical assessment questionnaire on the basis of Chinese medical theories by combining the common requirements for questionnaire development.

  6. Clinical outcome after intrahepatic venous stent placement for malignant inferior vena cava syndrome.

    PubMed

    Brountzos, Elias N; Binkert, Christoph A; Panagiotou, Irene E; Petersen, Bryan D; Timmermans, Hans; Lakin, Paul C

    2004-01-01

    We evaluated the clinical outcome of malignant inferior vena cava (IVC) syndrome after intrahepatic IVC stent placement by retrospective analysis of 50 consecutive patients (25 men, 25 women, age 32-83 years) with malignant IVC syndrome who were treated with intrahepatic stent placement. Gianturco-Rosch-Z (GRZ) stents (n = 45), and Wallstents (n = 5) were inserted. Clinical outcome was assessed from patients' records using a score based on leg swelling, scrotal/vulvar edema, ascites and anasarca before and after stent placement, as well as at last follow-up visit before death. Clinical follow-up was supplemented by duplex sonography in 36 patients. Inferior venocavography was performed in 5 patients prior to re- intervention. Follow-up time ranged from 1 to 932 days (mean 62 days). Mean pressure gradient in the IVC was reduced from 14 +/- 4.1 mmHg before to 2.9 +/- 3.2 mmHg after stent placement (p < 0.001). Four patients had stent occlusion, 2 of whom were successfully re-stented. Primary and secondary patency was 59% and 100%, respectively at 540 days. Immediate clinical data were available in 44 patients: 38 improved; 6 did not respond. Last follow-up visit data were available in 36 patients: 24 showed persistent symptom relief till death. All symptom scores were significantly improved after stent placement (p < 0.001) and with the exception of ascites, remained significantly improved (p < 0.05) until the last follow-up. Increased serum bilirubin was a common characteristic of clinical failures and recurrences. Intrahepatic IVC stent placement resulted in significant symptomatic relief in patients with malignant IVC syndrome. Palliation was effective even in patients with a very short life expectancy.

  7. Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.

    PubMed

    Corder, Jennifer Price; Al Ahbabi, Fatima Jaber Sehmi; Al Dhaheri, Hind Saif; Chedid, Fares

    2017-09-01

    The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital. Key demographic findings include mean maternal age of 37 years, among the highest described in the literature. Sixty-two percent of mothers are >35 years. Over 90% of mothers received post-natal diagnosis of Down syndrome. High sex ratio, parental consanguinity, and large family size also characterize the group. The spectrum of many co-occurring conditions mirrors that of previously described populations, with some notable differences. Cardiovascular malformations are well represented, however, atrioventricular canal is not the most common. Genitourinary conditions are common, as evidenced by 12% of males with hypospadias and 15% with undescended testes. Glucose-6-phosphate dehydrogenase deficiency, alpha thalassemia trait, hypovitaminosis D, and dental caries are common in our cohort. This study describes a large hospital-based group with Down syndrome presenting to a new dedicated Down syndrome clinic in the UAE, highlighting unique demographic and co-occurring conditions found in that population. © 2017 Wiley Periodicals, Inc.

  8. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

    PubMed

    Halbach, Nicky; Smeets, Eric E; Julu, Peter; Witt-Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-09-01

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Clinical consequences and economic costs of untreated obstructive sleep apnea syndrome.

    PubMed

    Knauert, Melissa; Naik, Sreelatha; Gillespie, M Boyd; Kryger, Meir

    2015-09-01

    To provide an overview of the healthcare and societal consequences and costs of untreated obstructive sleep apnea syndrome. PubMed database for English-language studies with no start date restrictions and with an end date of September 2014. A comprehensive literature review was performed to identify all studies that discussed the physiologic, clinical and societal consequences of obstructive sleep apnea syndrome as well as the costs associated with these consequences. There were 106 studies that formed the basis of this analysis. Undiagnosed and untreated obstructive sleep apnea syndrome can lead to abnormal physiology that can have serious implications including increased cardiovascular disease, stroke, metabolic disease, excessive daytime sleepiness, work-place errors, traffic accidents and death. These consequences result in significant economic burden. Both, the health and societal consequences and their costs can be decreased with identification and treatment of sleep apnea. Treatment of obstructive sleep apnea syndrome, despite its consequences, is limited by lack of diagnosis, poor patient acceptance, lack of access to effective therapies, and lack of a variety of effective therapies. Newer modes of therapy that are effective, cost efficient and more accepted by patients need to be developed.

  10. "I Have a Dream, Too!": The American Dream in Coretta Scott King Award-Winning Books

    ERIC Educational Resources Information Center

    Parsons, Linda T.; Castleman, Michele

    2011-01-01

    The Coretta Scott King (CSK) Award, instituted in 1969 and recognized as an official award by the American Library Association (ALA) in 1982, is conferred annually to an African American author and an illustrator for their outstanding contributions to literature about the Black experience for children and young adults. A partial impetus for the…

  11. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

    PubMed

    Lin, Angela E; Alexander, Mark E; Colan, Steven D; Kerr, Bronwyn; Rauen, Katherine A; Noonan, Jacqueline; Baffa, Jeanne; Hopkins, Elizabeth; Sol-Church, Katia; Limongelli, Giuseppe; Digilio, Maria Christina; Marino, Bruno; Innes, A Micheil; Aoki, Yoko; Silberbach, Michael; Delrue, Marie-Ange; White, Susan M; Hamilton, Robert M; O'Connor, William; Grossfeld, Paul D; Smoot, Leslie B; Padera, Robert F; Gripp, Karen W

    2011-03-01

    Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non-progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow-up data was not available in 8 (22%). Atrial tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal atrial tachycardia may be distinctive for Costello syndrome. Potentially serious atrial tachycardia may present in the fetus, and may continue or worsen in about one-fourth of those with arrhythmia, but is generally self-limited in the remaining three-fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated. Copyright © 2011 Wiley-Liss, Inc.

  12. Clinical profile and outcomes of acute cardiorenal syndrome type-5 in sepsis: An eight-year cohort study.

    PubMed

    Vallabhajosyula, Saraschandra; Sakhuja, Ankit; Geske, Jeffrey B; Kumar, Mukesh; Kashyap, Rahul; Kashani, Kianoush; Jentzer, Jacob C

    2018-01-01

    To evaluate the clinical features and outcomes of acute cardiorenal syndrome type-5 in patients with severe sepsis and septic shock. Historical cohort study of all adult patients with severe sepsis and septic shock admitted to the intensive care units (ICU) at Mayo Clinic Rochester from January 1, 2007 through December 31, 2014. Patients with prior renal or cardiac dysfunction were excluded. Patients were divided into groups with and without cardiorenal syndrome type-5. Acute Kidney Injury (AKI) was defined by both serum creatinine and urine output criteria of the AKI Network and the cardiac injury was determined by troponin-T levels. Outcomes included in-hospital mortality, ICU and hospital length of stay, and one-year survival. Of 602 patients meeting the study inclusion criteria, 430 (71.4%) met criteria for acute cardiorenal syndrome type-5. Patients with cardiorenal syndrome type-5 had higher severity of illness, greater vasopressor and mechanical ventilation use. Cardiorenal syndrome type-5 was associated higher unadjusted in-hospital mortality, ICU and hospital lengths of stay, and lower one-year survival. When adjusted for age, gender, severity of illness and mechanical ventilation, cardiorenal syndrome type-5 was independently associated with 1.7-times greater odds of in-hospital mortality (p = .03), but did not predict one-year survival (p = .06) compared to patients without cardiorenal syndrome. In sepsis, acute cardiorenal syndrome type-5 is associated with worse in-hospital mortality compared to patients without cardiorenal syndrome.

  13. Clinical outcomes in metabolic syndrome.

    PubMed

    Bhatheja, Rohit; Bhatt, Deepak L

    2006-01-01

    Metabolic syndrome is a clustering of cardiovascular risk factors. Its definition is the presence of any 3 of the following: obesity, hypertriglyceridemia, low high-density lipoprotein, hypertension, and impaired fasting glucose. The development of coronary artery disease is the most dreaded complication of this disease. In the United States, Mexican Americans and African American women are the most affected. Management of this syndrome includes physical exercise, weight loss, and effective drug treatment of dyslipidemia, high blood pressure, and impaired fasting blood glucose. Because of the increasing prevalence of obesity and diabetes, there is a rise in fatal and nonfatal cardiovascular events. With the development of effective antiplatelet medication and newer drug-eluting stents, percutaneous coronary intervention has become an effective revascularization strategy for those with coronary artery disease. Rates of stent restenosis and target-lesion revascularization have been reduced. Oral hypoglycemic drugs like thiazolidinediones improve insulin resistance and may have a favorable effect in those with metabolic syndrome. Diagnosis and appropriate management of metabolic syndrome are challenges as the presence of risk factors predates the coronary event.

  14. Astronaut Scott Carpenter - Practices - Air Lubricated Free Attitude (ALFA) Trainer - Langley AFB, VA

    NASA Image and Video Library

    1962-01-01

    S62-01145 (1961) --- Project Mercury astronaut M. Scott Carpenter practices manual control of a spacecraft in the Air Lubricated Free Attitude (ALFA) trainer located at NASA?s Langley Air Force Base, Virginia. This trainer allows the astronaut to see the image of Earth?s surface at his feet while manually controlling the spacecraft. Carpenter has been selected as the prime pilot of the United States? second orbital flight. Photo credit: NASA

  15. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

    PubMed

    Blanco-Kelly, Fiona; Jaijo, Teresa; Aller, Elena; Avila-Fernandez, Almudena; López-Molina, María Isabel; Giménez, Ascensión; García-Sandoval, Blanca; Millán, José M; Ayuso, Carmen

    2015-02-01

    A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene. To describe the primary phenotypic characteristics and differences between type I and type II Usher syndrome and to establish a phenotype-genotype correlation for the 2 most frequent mutations in the USH2A gene. Cross-sectional study at a genetics department, in which clinical evaluations were performed for 433 patients (297 unrelated families) who were classified as having type I, II, III, atypical, or unclassified Usher syndrome according to their clinical history, pedigree data, results from ophthalmological studies, and audiological, neurophysiological, and vestibular test results. Molecular studies were performed for 304 patients (256 unrelated families). The Mann-Whitney U test or the χ2 test was used for calculating the differences between mean values for the analyzed parameters. Age at diagnosis; age at onset of night blindness, visual field loss, visual acuity loss, and cataracts; and severity and age at diagnosis of hearing loss. The comparison between patients with type I Usher syndrome and those with type II Usher syndrome revealed P < .001 for most items analyzed. The most frequent mutations in the USH2A gene were the p.Glu767Serfs*21 and p.Cys759Phe mutations, with an allelic frequency of 23.2% (63 of 272 alleles) and 8.1% (22 of 272 alleles), respectively. The phenotypic analysis for patients carrying p.Cys759Phe showed P < .001 for most items analyzed when compared with patients carrying p.Glu767Serfs*21 and when compared with patients carrying other mutations in the USH2A gene. None of the p.Cys759Phe patients exhibited a severe hearing loss phenotype, and more than 60% had only mild hearing loss. Most patients carrying the p.Glu767Serfs*21 mutation (72.1%) were moderately deaf. Our study presents the clinical differences between type I and type II Usher syndrome

  16. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

    PubMed

    Sato, J; Ishii, Y; Noguchi, H

    2016-02-01

    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

  17. Clinical practice guideline for Sjögren's syndrome 2017.

    PubMed

    Sumida, Takayuki; Azuma, Naoto; Moriyama, Masafumi; Takahashi, Hiroyuki; Asashima, Hiromitsu; Honda, Fumika; Abe, Saori; Ono, Yuko; Hirota, Tomoya; Hirata, Shintaro; Tanaka, Yoshiya; Shimizu, Toshimasa; Nakamura, Hideki; Kawakami, Atsushi; Sano, Hajime; Ogawa, Yoko; Tsubota, Kazuo; Ryo, Koufuchi; Saito, Ichiro; Tanaka, Akihiko; Nakamura, Seiji; Takamura, Etsuko; Tanaka, Masao; Suzuki, Katsuya; Takeuchi, Tsutomu; Yamakawa, Noriyuki; Mimori, Tsuneyo; Ohta, Akiko; Nishiyama, Susumu; Yoshihara, Toshio; Suzuki, Yasunori; Kawano, Mitsuhiro; Tomiita, Minako; Tsuboi, Hiroto

    2018-05-01

    The objective of this study is to develop clinical practice guideline (CPG) for Sjögren's syndrome (SS) based on recently available clinical and therapeutic evidences. The CPG committee for SS was organized by the Research Team for Autoimmune Diseases, Research Program for Intractable Disease of the Ministry of Health, Labor and Welfare (MHLW), Japan. The committee completed a systematic review of evidences for several clinical questions and developed CPG for SS 2017 according to the procedure proposed by the Medical Information Network Distribution Service (Minds). The recommendations and their strength were checked by the modified Delphi method. The CPG for SS 2017 has been officially approved by both Japan College of Rheumatology and the Japanese Society for SS. The CPG committee set 38 clinical questions for clinical symptoms, signs, treatment, and management of SS in pediatric, adult and pregnant patients, using the PICO (P: patients, problem, population, I: interventions, C: comparisons, controls, comparators, O: outcomes) format. A summary of evidence, development of recommendation, recommendation, and strength for these 38 clinical questions are presented in the CPG. The CPG for SS 2017 should contribute to improvement and standardization of diagnosis and treatment of SS.

  18. Clinical, Electrophysiological, and Serological Evaluation of Patients with Cramp-Fasciculation Syndrome

    PubMed Central

    POYRAZ, Mürüvvet; MATUR, Zeliha; AYSAL, Fikret; TÜZÜN, Erdem; HANOĞLU, Lütfü; ÖGE, A. Emre

    2017-01-01

    Introduction Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic. Methods Clinical, electrophysiological, and serological features of 6 CFS patients (5 men, 1 woman; 27–65 years old) were investigated. Results All patients presented with cramps, fasciculations, muscle pain, and autonomic symptoms, and 2 also reported numbness and burning sensation in limbs, suggestive of neuropathic pain. Antibodies to uncharacterized voltage-gated potassium channel (VGKC)-complex proteins were found in 2 patients and to contactin-associated protein-like 2 (CASPR2) in 1 patient. None of the patients had a tumor. Most of the patients revealed prolonged after-discharges following tibial nerve stimulation. Nerve conduction studies and R-R interval variability tests were normal, whereas sympathetic skin responses were increased in amplitude in 3 seronegative patients. Five patients showed favorable response to carbamazepine or pregabalin treatment, whereas 1 VGKC-antibody-positive patient was resistant to carbamazepine and immunosuppressant treatment. Conclusion Neuropathic pain and VGKC-complex antibodies may be encountered in CFS patients. Although autonomic symptoms are commonly found in CFS, routine autonomic system tests which are done in electrophysiology laboratories might yield normal results. PMID:28680318

  19. Clinical, Electrophysiological, and Serological Evaluation of Patients with Cramp-Fasciculation Syndrome.

    PubMed

    Poyraz, Mürüvvet; Matur, Zeliha; Aysal, Fikret; Tüzün, Erdem; Hanoğlu, Lütfü; Öge, A Emre

    2017-06-01

    Cramp-fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability syndrome. There are only a few reports on clinical and serological profile of a CFS cohort that was followed up by a single outpatient clinic. Clinical, electrophysiological, and serological features of 6 CFS patients (5 men, 1 woman; 27-65 years old) were investigated. All patients presented with cramps, fasciculations, muscle pain, and autonomic symptoms, and 2 also reported numbness and burning sensation in limbs, suggestive of neuropathic pain. Antibodies to uncharacterized voltage-gated potassium channel (VGKC)-complex proteins were found in 2 patients and to contactin-associated protein-like 2 (CASPR2) in 1 patient. None of the patients had a tumor. Most of the patients revealed prolonged after-discharges following tibial nerve stimulation. Nerve conduction studies and R-R interval variability tests were normal, whereas sympathetic skin responses were increased in amplitude in 3 seronegative patients. Five patients showed favorable response to carbamazepine or pregabalin treatment, whereas 1 VGKC-antibody-positive patient was resistant to carbamazepine and immunosuppressant treatment. Neuropathic pain and VGKC-complex antibodies may be encountered in CFS patients. Although autonomic symptoms are commonly found in CFS, routine autonomic system tests which are done in electrophysiology laboratories might yield normal results.

  20. [Clinical application of "categorization by analogy" in acupuncture for pain syndromes].

    PubMed

    Chen, Xiaojun

    2018-03-12

    The"categorization by analogy"is one of the most primitive thinking methods for ancient people to explore the world, which has exerted far-reaching impact on the origin and development of TCM. With examples of Sanjian (LI 3) for neck pain, Chize (LU 5) for low back pain and Chengshan (BL 57) for dysmenorrhea, the clinical application of"categorization by analogy"in acupuncture for pain syndromes was discussed, hoping more acupuncturists will pay attention to the guiding role of"categorization by analogy"in acupuncture clinical treatment.

  1. Serum vitamin D and the metabolic syndrome among osteoporotic postmenopausal female patients of a family practice clinic in Jordan.

    PubMed

    Yasein, Nada; Shroukh, Wejdan; Hijjawi, Razan

    2015-01-01

    Vitamin D deficiency and insufficiency and the metabolic syndrome are two common health issues worldwide. The association between these two health problems is subject to debate. This study aims to investigate the association between vitamin D deficiency or insufficiency and the metabolic syndrome in a sample of osteoporotic postmenopausal women attending a family practice clinic in Amman-Jordan. This was an observational cross sectional study. It was carried out in the family practice clinic in Jordan University Hospital. The study included all postmenopausal osteoporotic women attending the clinic between June 2011 and May 2012, yielding a total of 326 subjects. The association between metabolic syndrome and serum vitamin D levels was investigated. Waist circumference, body mass index, triglycerides and fasting blood sugar were significantly higher among postmenopausal women with metabolic syndrome, but HDL cholesterol was significantly lower (p<0.05). The prevalence of metabolic syndrome among all study participants was 42.9%. Triglycerides and LDL cholesterol were significantly higher among women deficiency or insufficiency (p<0.05). The prevalence of vitamin D deficiency or insufficiency was 45.7%. Among patients with metabolic syndrome, the prevalence of vitamin D deficiency or insufficiency was 50.7%. Findings of the current study suggest a lack of relationship between serum vitamin D and metabolic syndrome. However, a significant inverse relationship was found between serum vitamin D levels and both serum triglycerides and LDL levels.

  2. [Clinical and molecular analysis of two Chinese siblings with Bloom syndrome].

    PubMed

    Wu, M L; Wang, X M; Li, J; Ding, Y; Chen, Y; Chang, G Y; Wang, J; Shen, Y P

    2018-05-02

    Objective: To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Methods: Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. The mutations were detected with high-throughput sequencing by Illumina sequencing platform. Results: The two siblings (probands) visited our department for short stature and growth retardation, they had full-term normal delivery after normal pregnancy of their mother. Both cases presented with feeding difficulties, malnutrition, microcephaly and mental retardation, repeated infection, symmetrical short stature and special faces. At first, the proband was an 8-year-3-month old girl, her height was 99.7 cm, body mass index (BMI) 12.07 kg/m(2), head circumference was 45.5 cm, and birth weight was 1.6 kg. Her younger brother was 3-year-11-month old, his height was 86.6 cm, BMI was 14 kg/m(2), birth weight was 1.95 kg, and the head circumference reached 36 cm at 16 months. No evidence of cancer and characteristic rash was detected at 8-year follow-up. Pathogenic complex heterozygous mutations c.772_773delCT, p.Leu258Glufs*7 and c.959+ 2T>A in BLM gene were detected in both siblings, which were separately inherited from their unaffected parents. Besides , c.959 + 2T>A has not been reported previously. Conclusions: Children with Bloom syndrome are characterized by short stature, microcephaly, special faces, feeding difficulties, and immunodeficiency. And butterfly erythematous rash may be absent. The c.959+2T>A mutation detected in our patients maybe a novel pathogenic mutation.

  3. James Edward Scott: The Leadership Journey of a Senior-Level African American Student Affairs Officer

    ERIC Educational Resources Information Center

    Willis, Salatha T.

    2013-01-01

    The purpose of this study was to examine, understand, and describe the life, leadership, and influence of Dr. James Edward Scott on higher education and more specifically student affairs; as one of the most well-known and respected African American male chief student affairs officers in the late 20th and early 21st centuries. Using a qualitative…

  4. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

    PubMed

    Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A

    2017-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development. Most MKS proteins localize to a distinct ciliary compartment called the transition zone (TZ) that regulates the trafficking of cargo proteins or lipids. In this review, we provide an up-to-date summary of MKS clinical features, molecular genetics, and clinical diagnosis. MKS has a highly variable phenotype, extreme genetic heterogeneity, and displays allelism with other related ciliopathies such as Joubert syndrome, presenting significant challenges to diagnosis. Recent advances in genetic technology, with the widespread use of multi-gene panels for molecular testing, have significantly improved diagnosis, genetic counseling, and the clinical management of MKS families. These include the description of some limited genotype-phenotype correlations. We discuss recent insights into the molecular basis of disease in MKS, since the functions of some of the relevant ciliary proteins have now been determined. A common molecular etiology appears to be disruption of ciliary TZ structure and function, affecting essential developmental signaling and the regulation of secondary messengers.

  5. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings.

    PubMed

    Dichter, Gabriel S; Damiano, Cara A; Allen, John A

    2012-07-06

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette's syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader-Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  6. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    PubMed Central

    2012-01-01

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies. PMID:22958744

  7. 75 FR 13765 - Draft Guidance for Industry on Irritable Bowel Syndrome-Clinical Evaluation of Products for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-23

    ...] Draft Guidance for Industry on Irritable Bowel Syndrome--Clinical Evaluation of Products for Treatment... topics regarding irritable bowel syndrome (IBS) sign and symptom assessment for IBS with diarrhea (IBS-D... IBS. DATES: Although you can comment on any guidance at any time (see 21 CFR 10.115(g)(5)), to ensure...

  8. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

    PubMed

    Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

    2017-05-01

    Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be

  9. The lumbar facet arthrosis syndrome. Clinical presentation and articular surface changes.

    PubMed

    Eisenstein, S M; Parry, C R

    1987-01-01

    We describe a lumbar facet syndrome in which disabling symptoms are associated with normal or near-normal plain radiographs. Local spinal fusion relieved symptoms in 12 patients; the excised facet joint surfaces showed some of the histological changes seen in chondromalacia patellae and in osteoarthritis of other large joints. The most frequent change was focal full-thickness cartilage necrosis or loss of cartilage with exposure of subchondral bone, but osteophyte formation was remarkably absent in all specimens. We suggest that there are both clinical and histological similarities between the facet arthrosis syndrome and chondromalacia patellae. Facet arthrosis may be a relatively important cause of intractable back pain in young and middle-aged adults.

  10. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

    PubMed

    Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

    2018-01-04

    Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation. Given the interrelated functions of these chromatin regulatory proteins, we sought to identify DNA methylation epi-signatures that could provide syndrome-specific biomarkers to complement standard clinical diagnostics. In the present study, we examined peripheral blood samples from a large cohort of individuals encompassing 14 Mendelian disorders displaying mutations in the genes encoding proteins of the epigenetic machinery. We demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, we have demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and we highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. GLUT1 deficiency syndrome in clinical practice.

    PubMed

    Klepper, Joerg

    2012-07-01

    GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. Copyright © 2011. Published by Elsevier B.V.

  12. Non-stroke neurological syndromes associated with antiphospholipid antibodies: evaluation of clinical and experimental studies.

    PubMed

    Chapman, J; Rand, J H; Brey, R L; Levine, S R; Blatt, I; Khamashta, M A; Shoenfeld, Y

    2003-01-01

    Although many types of neurological disorders and events have been described in association with antiphospholipid antibodies (aPL) and the antiphospholipid syndrome (APS), only ischaemic stroke is reasonably well established and accepted as a diagnostic criterion for the syndrome. We propose to evaluate, classify and rank the association of other neurological manifestations as possible, probable, or definite according to the data available from clinical studies and animal models. By these criteria, none of the neurological disorders or events such as epilepsy, psychiatric disease, dementia, transverse myelitis, multiple sclerosis-like disease, chorea, migraine, Guillian-Barrè syndrome, and sensory-neural hearing loss, can be definitely associated with aPL or APS.

  13. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

    PubMed

    Kato, Fumiko; Hamajima, Takashi; Hasegawa, Tomonobu; Amano, Naoko; Horikawa, Reiko; Nishimura, Gen; Nakashima, Shinichi; Fuke, Tomoko; Sano, Shinichirou; Fukami, Maki; Ogata, Tsutomu

    2014-05-01

    Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients. We studied a 46,XX patient aged 8·5 years (case 1) and two 46,XY patients aged 16·5 and 15·0 years (cases 2 and 3). Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. Furthermore, lack of CDKN1C mutation in case 3 implies genetic heterogeneity in IMAGe syndrome. © 2013 John Wiley & Sons Ltd.

  14. Seated at the pilots station, astronaut Scott J. Horowitz uses a mirror to monitor the vertical

    NASA Technical Reports Server (NTRS)

    1996-01-01

    Seated at the pilots station, astronaut Scott J. Horowitz uses a mirror to monitor the vertical stabilizer and the aft cargo bay area during the entry phase of the flight. Horowitz, pilot, joined four other astronauts and an international payload specialist for 16 days of scientific research in Earth-orbit.

  15. Clinical features and imaging findings in a case of Capgras syndrome.

    PubMed

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.

  16. Clinical features and imaging findings in a case of Capgras syndrome

    PubMed Central

    Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

    2013-01-01

    Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness. PMID:23950650

  17. The Great Kanto earthquake and F. Scott Fitzgerald

    NASA Astrophysics Data System (ADS)

    Kawakatsu, Hitoshi; Bina, Craig R.

    How many recall the following striking sentence from The Great Gatsby by F. Scott Fitzgerald, which appears on the second page of the novel, where Fitzgerald first introduces Gatsby? “If personality is an unbroken series of successful gestures, then there was something gorgeous about him, some heightened sensitivity to the promises of life, as if he were related to one of those intricate machines that register earthquakes ten thousand miles away.”This line may have failed to focus our attention when we first read the book in our younger days. Now, however, as a Japanese seismologist and an American geophysicist (and student of Japanese culture), we would be greatly remiss for failing to take greater note of this statement. Indeed, as The Great Gatsby was published in 1925, it occurred to us that the earthquake Fitzgerald might have been thinking of was the Great Kanto earthquake, which occurred on September 1, 1923 and devastated the Tokyo metropolitan area.

  18. A new case of a severe clinical phenotype of the cat-eye syndrome.

    PubMed

    Denavit, T Martin; Malan, V; Grillon, C; Sanlaville, D; Ardalan, A; Jacquemont, M L; Burglen, L; Taillemite, J L; Portnoi, M F

    2004-01-01

    A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. Cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.

  19. Scott Hinkley and the Golden Hook: or A Teacher Discovers Himself in Class 20 Years Later

    ERIC Educational Resources Information Center

    Rickey, Deborah L.; Hinkley, Scott

    2004-01-01

    Scott Hinkley, a career-changer in Indiana and presently a first-year teacher, teams up with one of his teachers, Debbie Rickey, assistant director of the MA in Teaching Program at Earlham College, to illustrate through personal experiences, their teaching program's emphasis on the practical application of passion for pre-service students that…

  20. A Brief Historical Introduction to Solitons and the Inverse Scattering Transform--A Vision of Scott Russell

    ERIC Educational Resources Information Center

    Debnath, Lokenath

    2007-01-01

    This paper deals with a brief introduction to major remarkable discoveries of the "soliton" and the "inverse scattering transform" in the 1960s. The discovery of the soliton (or the solitary waves) began with the famous physical experiments of the Scottish Engineer and Naval Architect John Scott Russell in the Glasgow-Edinburgh…

  1. Clinical variables determining the success of adenotonsillectomy in children with Down syndrome.

    PubMed

    da Rocha, Maíra; Ferraz, Renata Caroline Mendonça; Guo Chen, Vitor; Antonio Moreira, Gustavo; Raimundo Fujita, Reginaldo

    2017-11-01

    To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences. Mann-Whitney test evaluated the influence of comorbidities. A p < 0.05 was considered significant. A total of 27 patients met the inclusion criteria (55.6% patients were males; mean (SD) age were 6.7 (3.6) years (range, 1.5-16 years). Significant improvement of parent's complaints (p < 0.001), arousal index (p = 0.045), and minimum oxygen saturation were observed post-adenotonsillectomy (p = 0.034). Adenotonsillectomy was able to resolve obstructive sleep apnea syndrome in 29.6% of children with Down syndrome. Nineteen patients (70.4%) remained with obstructive sleep apnea syndrome and 44.4% showed a reduction of at least 50% of obstructive apnea-hypopnea index. Central apnea index post-adenotonsillectomy was worse in patients with heart disease (p = 0.022). Sleep efficiency (p = 0.031), N1 sleep stage (p = 0.001), apnea-hypopnea index (p = 0.023), and central apnea index (p = 0.008) were worse after surgery in patients with hypothyroidism. Patients with severe OSAS showed significant improvement in polysomnographic parameters after surgery. Although adenotonsillectomy improved symptoms and objective sleep data in children with Down syndrome, it was not able to resolve obstructive sleep apnea syndrome in most patients. Congenital heart diseases and hypothyroidism may affect the outcome. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Toxic shock syndrome: clinical and laboratory features in 15 patients.

    PubMed

    Tofte, R W; Williams, D N

    1981-02-01

    Toxic shock syndrome is a recently recognized illness with serious morbidity and mortality that occurs primarily in healthy menstruating women who use tampons. Thirteen women and two men were evaluated; two of the women died in spite of seemingly appropriate therapy. All patients had a temperature of 38.9 degrees C or greater, hypotension of syncope, a skin rash with subsequent desquamation, mucous membrane inflammation, and laboratory evidence of multiple organ dysfunction. Staphylococcus aureus was isolated from the cervix or vagina in eight women and from soft-tissue infections in both men. Two patients were bacteremic. The significant heterogeneity in the clinical manifestations, laboratory abnormalities, and therapeutic requirements among patients may result in diagnostic confusion and inappropriate therapy. Although toxic shock syndrome appears to be associated with tampon usage and S. aureus, the pathogenesis remains unknown.

  3. Clinical Features of Ocular Ischemic Syndrome and Risk Factors for Neovascular Glaucoma.

    PubMed

    Kim, Yung Hui; Sung, Mi Sun; Park, Sang Woo

    2017-08-01

    We aimed to examine the clinical features and prognosis of ocular ischemic syndrome and to investigate the risk factors for the development of neovascular glaucoma (NVG). The medical records from 25 patients (25 eyes) who were diagnosed with ocular ischemic syndrome were retrospectively analyzed. We recorded the length of time between symptom onset and diagnosis, visual acuity, intraocular pressure, clinical findings of the anterior and posterior segments of the eye, fluorescein angiography, systemic diseases, smoking history, and the extent of any ipsilateral carotid artery stenosis. The risk factors for NVG in patients with ocular ischemic syndrome were investigated. The mean age was 67.9 ± 12.5 years, and 21 men and 4 women were included in this study. At initial examination, the mean logarithm of the minimum angle of resolution (logMAR) was 2.02 ± 1.26, and the mean intraocular pressure was 21.0 ± 10.3 mmHg. Among 25 eyes of the 25 patients, NVG occurred in 17 eyes after a mean period of 12.6 ± 14.0 months. The length of time between symptom onset and diagnosis (p = 0.025) and the extent of ipsilateral carotid artery stenosis (p = 0.032) were identified as significant risk factors for NVG. At the final follow-up, the mean logMAR visual acuity was 3.13 ± 1.24, showing a poor prognosis regardless of whether NVG occurred. Overall, the prognosis for ocular ischemic syndrome is very poor. The risk of NVG increases with the length of time between symptom onset and diagnosis, as well as with the severity of ipsilateral carotid artery stenosis. © 2017 The Korean Ophthalmological Society

  4. The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome.

    PubMed

    Tian, Xiaojuan; Ye, Jintang; Zeng, Qi; Zhang, Jing; Yang, Xiaoling; Liu, Aijie; Yang, Zhixian; Liu, Xiaoyan; Wu, Xiru; Zhang, Yuehua

    2018-06-01

    To analyze the clinical outcome and neuroimaging over a long duration follow-up in the currently largest series of acute encephalopathy after status epilepticus in patients with Dravet syndrome. Clinical and neuroimaging data of patients with Dravet syndrome with a history of acute encephalopathy (coma >24h) after status epilepticus from February 2005 to December 2016 at Peking University First Hospital were reviewed retrospectively. Thirty-five patients (15 males, 20 females) with a history of acute encephalopathy were enrolled from a total of 624 patients with Dravet syndrome (5.6%). The median onset age of acute encephalopathy was 3 years 1 month. The duration of status epilepticus varied between 40 minutes to 12 hours. Thirty-four patients had a high fever when status epilepticus occurred, and only one had a normal temperature. Coma lasted from 2 to 20 days. Twelve patients died and 23 survived with massive neurological regression. The median follow-up time was 2 years 1 month. Neuroimaging of 20 out of 23 survivors during the recovery phase showed diverse degrees of cortical atrophy with or without subcortical lesions. Acute encephalopathy after status epilepticus is more prone to occur in patients with Dravet syndrome who had a high fever. The mortality rate is high in severe cases. Survivors are left with severe neurological sequelae but often with either no seizure or low seizure frequency. Acute encephalopathy is more prone to occur in patients with Dravet syndrome with a high fever. The mortality rate is high for acute encephalopathy after status epilepticus in patients with Dravet syndrome. Survivors have neurological sequelae. © 2018 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

  5. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    PubMed

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P < 0.0001), less fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  6. [Clinical Results of Endoscopic Treatment of Greater Trochanteric Pain Syndrome].

    PubMed

    Zeman, P; Rafi, M; Skala, P; Zeman, J; Matějka, J; Pavelka, T

    2017-01-01

    PURPOSE OF THE STUDY This retrospective study aims to present short-term clinical outcomes of endoscopic treatment of patients with greater trochanteric pain syndrome (GTPS). MATERIAL AND METHODS The evaluated study population was composed of a total of 19 patients (16 women, 3 men) with the mean age of 47 years (19-63 years). In twelve cases the right hip joint was affected, in the remaining seven cases it was the left side. The retrospective evaluation was carried out only in patients with greater trochanteric pain syndrome caused by independent chronic trochanteric bursitis without the presence of m. gluteus medius tear not responding to at least 3 months of conservative treatment. In patients from the followed-up study population, endoscopic trochanteric bursectomy was performed alone or in combination with iliotibial band release. The clinical results were evaluated preoperatively and with a minimum follow-up period of 1 year after the surgery (mean 16 months). The Visual Analogue Scale (VAS) for assessment of pain and WOMAC (Western Ontario MacMaster) score were used. In both the evaluated criteria (VAS and WOMAC score) preoperative and postoperative results were compared. Moreover, duration of surgery and presence of postoperative complications were assessed. Statistical evaluation of clinical results was carried out by an independent statistician. In order to compare the parameter of WOMAC score and VAS pre- and post-operatively the Mann-Whitney Exact Test was used. The statistical significance was set at 0.05. RESULTS The preoperative VAS score ranged 5-9 (mean 7.6) and the postoperative VAS ranged 0-5 (mean 2.3). The WOMAC score ranged 56.3-69.7 (mean 64.2) preoperatively and 79.8-98.3 (mean 89.7) postoperatively. When both the evaluated parameters of VAS and WOMAC score were compared in time, a statistically significant improvement (p<0.05) was achieved postoperatively. The mean duration of surgical procedure was 68 minutes. Moreover, in peritrochanteric

  7. Clinical and Genetic Aspects of Primary Ciliary Dyskinesia / Kartagener Syndrome

    PubMed Central

    Leigh, Margaret W.; Pittman, Jessica E.; Carson, Johnny L.; Ferkol, Thomas W.; Dell, Sharon D.; Davis, Stephanie D.; Knowles, Michael R.; Zariwala, Maimoona A.

    2013-01-01

    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for PCD is available for the most common mutations. The respiratory manifestations of PCD (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of PCD patients have laterality defects (including situs inversus totalis and, less commonly, heterotaxy and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most PCD patients have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with PCD. PMID:19606528

  8. Stepped approach for prediction of syndrome Z in patients attending sleep clinic: a north Indian hospital-based study.

    PubMed

    Agrawal, Swastik; Sharma, Surendra Kumar; Sreenivas, Vishnubhatla; Lakshmy, Ramakrishnan; Mishra, Hemant K

    2012-09-01

    Syndrome Z is the occurrence of metabolic syndrome (MS) with obstructive sleep apnea. Knowledge of its risk factors is useful to screen patients requiring further evaluation for syndrome Z. Consecutive patients referred from sleep clinic undergoing polysomnography in the Sleep Laboratory of AIIMS Hospital, New Delhi were screened between June 2008 and May 2010, and 227 patients were recruited. Anthropometry, body composition analysis, blood pressure, fasting blood sugar, and lipid profile were measured. MS was defined using the National Cholesterol Education Program (adult treatment panel III) criteria, with Asian cutoff values for abdominal obesity. Prevalence of MS and syndrome Z was 74% and 65%, respectively. Age, percent body fat, excessive daytime sleepiness (EDS), and ΔSaO(2) (defined as difference between baseline and minimum SaO(2) during polysomnography) were independently associated with syndrome Z. Using a cutoff of 15% for level of desaturation, the stepped predictive score using these risk factors had sensitivity, specificity, positive predictive value, and negative predictive value of 75%, 73%, 84%, and 61%, respectively for the diagnosis of syndrome Z. It correctly characterized presence of syndrome Z 75% of the time and obviated need for detailed evaluation in 42% of the screened subjects. A large proportion of patients presenting to sleep clinics have MS and syndrome Z. Age, percent body fat, EDS, and ΔSaO(2) are independent risk factors for syndrome Z. A stepped predictive score using these parameters is cost-effective and useful in diagnosing syndrome Z in resource-limited settings.

  9. Clinical Implications of Cardiac-MIBG SPECT in the Differentiation of Parkinsonian Syndromes

    PubMed Central

    Shin, Dong Hoon; Bang, Oh Young; Joo, In Soo; Huh, Kyoon

    2006-01-01

    Background and Purpose 123I cardiac meta-iodobenzylguanidine (MIBG), an analogue of norepinephrine, has been used to estimate myocardial sympathetic nerve function. We investigate whether cardiac-MIBG SPECT is clinically applicable in the differentiation of Parkinson's disease (PD) from parkinsonian syndromes. Methods Cardiac-MIBG scintigraphy was performed in 27 controls, in 40 patients with PD and in 52 patients with other parkinsonian syndromes comprising 23 with multiple system atrophy (MSA), 26 with drug-induced parkinsonism (DIP), and 3 with corticobasal degeneration (CBD). The heart to mediastinum (H/M) uptake ratio was calculated for each subjects. Patients who either had medical conditions that confused the MIBG SPECT results or who took medications that interfere with MIBG accumulation were excluded from the study. Results Both early and delayed H/M ratios were in patients with PD significantly lower than in controls (early, 1.34±0.15 vs 1.79±0.19; delayed, 1.29±0.15 vs 2.06±0.29, p<0.001). In patients with PD, both early and delayed H/M ratios were significantly lower than those in patients with MSA (early, 1.68±0.23; delayed, 1.80±0.34, p<0.001), DIP (early, 1.83±0.24; delayed, 2.07±0.4, p<0.001), or CBD (early, 1.85±0.01; delayed, 1.99±0.19, p<0.001). Two patients with DIP, who were within the range of patients with PD, showed clinically similar courses of PD. Conclusions This study demonstrates that cardiac-MIBG is a clinically powerful tools to differentiate PD from other parkinsonian syndromes. PMID:20396485

  10. Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome.

    PubMed

    Yang, Chen; Chen, Julia Yi-Ru; Lai, Chien-Cherng; Lin, Hsiu-Chen; Yeh, Geng-Chang; Hsu, Hsun-Hui

    2004-02-01

    Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 microg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.

  11. The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

    ERIC Educational Resources Information Center

    Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

    2009-01-01

    Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

  12. 5 Things You Didn't Know About Astronaut Scott Tingle

    NASA Image and Video Library

    2017-12-15

    The next crew to launch to the International Space Station includes one American astronaut making his first spaceflight: U.S. Navy Captain Scott Tingle, a Massachusetts native with a mechanical engineering education and a resume that includes deployments as an operational pilot plus the Navy Test Pilot School. Even though he’s been an astronaut for eight years, there are a few things we didn’t know about him—until now. Listen here for details on Tingle’s childhood in New England, including the motor vehicles he raced and the floors he swept to earn the money to pay for it. _______________________________________ FOLLOW THE SPACE STATION! Twitter: https://twitter.com/Space_Station Facebook: https://www.facebook.com/ISS Instagram: https://instagram.com/iss/

  13. STS-120 Mission Specialist Scott Parazynski Repairs ISS Solar Array

    NASA Technical Reports Server (NTRS)

    2007-01-01

    While anchored to a foot restraint on the end of the Orbiter Boom Sensor System (OBSS), astronaut Scott Parazynski, STS-120 mission specialist, participated in the mission's fourth session of extravehicular activity (EVA) while Space Shuttle Discovery was docked with the International Space Station (ISS). During the 7-hour and 19-minute space walk, Parazynski cut a snagged wire and installed homemade stabilizers designed to strengthen the structure and stability of the damaged P6 4B solar array wing. Astronaut Doug Wheelock (out of frame), mission specialist, assisted from the truss by keeping an eye on the distance between Parazynski and the array. Once the repair was complete, flight controllers on the ground successfully completed the deployment of the array.

  14. STS-120 Mission Specialist Scott Parazynski Repairs ISS Solar Array

    NASA Technical Reports Server (NTRS)

    2006-01-01

    While anchored to a foot restraint on the end of the Orbiter Boom Sensor System (OBSS), astronaut Scott Parazynski, STS-120 mission specialist, participated in the mission's fourth session of extravehicular activity (EVA) while Space Shuttle Discovery was docked with the International Space Station (ISS). During the 7-hour and 19-minute space walk, Parazynski cut a snagged wire and installed homemade stabilizers designed to strengthen the structure and stability of the damaged P6 4B solar array wing. Astronaut Doug Wheelock (out of frame), mission specialist, assisted from the truss by keeping an eye on the distance between Parazynski and the array. Once the repair was complete, flight controllers on the ground successfully completed the deployment of the array.

  15. Adapting Scott and Bruce's General Decision-Making Style Inventory to Patient Decision Making in Provider Choice.

    PubMed

    Fischer, Sophia; Soyez, Katja; Gurtner, Sebastian

    2015-05-01

    Research testing the concept of decision-making styles in specific contexts such as health care-related choices is missing. Therefore, we examine the contextuality of Scott and Bruce's (1995) General Decision-Making Style Inventory with respect to patient choice situations. Scott and Bruce's scale was adapted for use as a patient decision-making style inventory. In total, 388 German patients who underwent elective joint surgery responded to a questionnaire about their provider choice. Confirmatory factor analyses within 2 independent samples assessed factorial structure, reliability, and validity of the scale. The final 4-dimensional, 13-item patient decision-making style inventory showed satisfactory psychometric properties. Data analyses supported reliability and construct validity. Besides the intuitive, dependent, and avoidant style, a new subdimension, called "comparative" decision-making style, emerged that originated from the rational dimension of the general model. This research provides evidence for the contextuality of decision-making style to specific choice situations. Using a limited set of indicators, this report proposes the patient decision-making style inventory as valid and feasible tool to assess patients' decision propensities. © The Author(s) 2015.

  16. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome

    PubMed Central

    Sánchez, José María; Fijtman, Nora; Migliorini, Ana María

    1982-01-01

    A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected. Images PMID:7143394

  17. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

    PubMed

    Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

    2010-07-01

    Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

  18. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

    PubMed

    Abbas, Elham; Cox, Devin M; Smith, Teri; Butler, Merlin G

    2016-09-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams-Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation.

  19. Chronic pelvic pain syndrome: role of a thorough clinical assessment.

    PubMed

    Quaghebeur, Jörgen; Wyndaele, Jean-Jacques

    2015-04-01

    Chronic pelvic pain syndrome (CPPS) presents with a variety of symptoms affecting multiple systems. There is no universal treatment that can be given to all patients with CPPS. The results of treatment depend greatly on an accurate diagnosis. A thorough clinical assessment, including a "four-step plan", should include paying special attention to the musculoskeletal system. This assessment is not difficult to perform and provides valuable information on possible muscular problems and neuropathy.

  20. Irritable bowel syndrome: A clinical review

    PubMed Central

    Soares, Rosa LS

    2014-01-01

    Irritable bowel syndrome (IBS) remains a clinical challenge in the 21st century. It’s the most commonly diagnosed gastrointestinal condition and also the most common reason for referral to gastroenterology clinics. Its can affect up to one in five people at some point in their lives, and has a significantly impact of life quality and health care utilization. The prevalence varies according to country and criteria used to define IBS. Various mechanisms and theories have been proposed about its etiology, but the biopsychosocial model is the most currently accepted for IBS. The complex of symptoms would be the result of the interaction between psychological, behavioral, psychosocial and environmental factors. The diagnosis of IBS is not confirmed by a specific test or structural abnormality. It is made using criteria based on clinical symptoms such as Rome criteria, unless the symptoms are thought to be atypical. Today the Rome Criteria III is the current gold-standard for the diagnoses of IBS. Secure positive evidence of IBS by means of specific disease marker is currently not possible and cannot be currently recommended for routine diagnosis. There is still no clinical evidence to recommend the use of biomarkers in blood to diagnose IBS. However, a number of different changes in IBS patients were demonstrated in recent years, some of which can be used in the future as a diagnostic support. IBS has no definitive treatment but could be controlled by non-pharmacologic management eliminating of some exacerbating factors such certain drugs, stressor conditions and changes in dietary habits.The traditional pharmacologic management of IBS has been symptom based and several drugs have been used. However, the cornerstone of its therapy is a solid patient physician relationship. This review will provide a summary of pathophysiology, diagnostic criteria and current and emerging therapies for IBS. PMID:25232249

  1. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    PubMed

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

  2. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

    PubMed

    Wang, Yanyan; Sivakumar, Vanessa; Mohammad, Mardhiah; Colville, Deb; Storey, Helen; Flinter, Frances; Dagher, Hayat; Savige, Judy

    2014-03-01

    This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome. All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre. Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease. Fourteen (93 %) individuals with autosomal recessive Alport syndrome developed early end-stage renal failure, all 15 had hearing loss, and most had lenticonus (12, 80 %), and a central (13, 87 %) or peripheral (13, 87 %) retinopathy. These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were less likely to have an affected family member in another generation (p = 0.01) than females with X-linked disease. They were more likely to have renal failure (p = 0.003), hearing loss (p = 0.02) and lenticonus (p < 0.001). Fifty percent had a central retinopathy compared with 18 % with X-linked disease (p = 0.14), but peripheral retinopathy prevalence was not different (p = 0.64). Nonsense mutations accounted for 67 % (8/12) of these disease-causing mutations. Autosomal recessive inheritance is increased in females with Alport syndrome and early onset renal failure, hearing loss, lenticonus, and, possibly, central retinopathy.

  3. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  4. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    PubMed

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  5. X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

    PubMed Central

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J.; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H.; Bours, Vincent; Liu, Pengfei; De Herder, Wouter; Pellegata, Natalia; Lupski, James R.; Daly, Adrian F.; Stratakis, Constantine A.

    2015-01-01

    X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

  6. Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

    PubMed Central

    Hepburn, Susan L.; Moody, Eric J.

    2015-01-01

    Assessing symptoms of autism in persons with known genetic syndromes associated with intellectual and/or developmental disability is a complex clinical endeavor. We suggest that a developmental approach to evaluation is essential to reliably teasing apart global impairments from autism-specific symptomology. In this chapter, we discuss our assumptions about autism spectrum disorders, the process of conducting a family-focused, comprehensive evaluation with behaviorally complex children and some implications for intervention in persons with co-occurring autism and known genetic syndromes. PMID:26269783

  7. Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

    PubMed

    Minoia, Francesca; Bertamino, Marta; Picco, Paolo; Severino, Mariasavina; Rossi, Andrea; Fiorillo, Chiara; Minetti, Carlo; Nesti, Claudia; Santorelli, Filippo Maria; Di Rocco, Maja

    2017-01-01

    Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cerebellum, spinal cord, and optic nerves. Isolated complex I deficiency is the most common defect identified in Leigh syndrome. In 2011, the first child with a mutation of NDUFA10 gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition.

  8. [Clinical and medicine characteristics of patients with Parkinson's syndrome].

    PubMed

    Liu, Huan; Xie, Yan-Ming; Yi, Dan-Hui; Wang, Yong-Yan

    2014-09-01

    This study analyze the characteristics and clinical medicine in 17 hospitals all over China, based on hospital information system diagnostic information database, including 4 497 cases of hospitalized patients with Parkinson's syndrome. Results indicate, the most common comorbidities are infarction, hypertension, coronary heart disease, diabetes and lung infections, including cerebral infarction, the combined incidence of hypertension in men reached 33.46% and 30.05%, respectively, it is slightly lower in the females. Men with coronary heart disease are more than women, women with diabetes and bone disease are more than men. Combined incidence of the disease increases with age, vascular factors occupy an important position. The most common combined diseases in patients with 90 years of age or older are coronary heart disease, lung infection, and often accompanied by metabolic disorders and nutritional emergency, critical care. Constipation, depression, anxiety, sleep disorders, cognitive impairment are common non-motor symptoms. The drug categories associated with Parkinson's core symptoms treatment are about 20% to 30% of clinical medicine, the others are associated with the treatment of combined disease, clinical medicine and disease spectrum consistent. Blood circulation topped Chinese agents applied frequency, reaching 44.52%; laxative drugs accounted for 11.66%; detoxification agent representing 9.46%. The first twenty Chinese medicine of the applying frequency reached 56.07% of the total utilization, including 12 kinds of traditional Chinese medicine injections, accounting for 60%. Therefore, in the diagnosis and treatment of Parkinsons syndrome, the treatment of comorbidities is very important, more attentions should be paid to vascular factors of the disease, Chinese medicine should be more concerned to improve the non-motor symptoms, give full play to the pharmaceutical multi-target, the overall regulation of advantages, integrative medicine, and improve

  9. A New Way of Thinking about Technology: An Interview with Futurists Joel Barker and Scott Erickson

    ERIC Educational Resources Information Center

    Morrison, James L.; Barker, Joel; Erickson, Scott

    2006-01-01

    Editor-in-chief James Morrison interviews Joel Barker and Scott Erickson, co-authors of the book "Five Regions of the Future: A New Way to Think about Technology". In their book, the authors propose an ecological model that classifies technology according to different clusters or regions, each of which entails its own perspective of technology and…

  10. Groin Pain Syndrome Italian Consensus Conference on terminology, clinical evaluation and imaging assessment in groin pain in athlete

    PubMed Central

    Bisciotti, G N; Volpi, P; Zini, R; Auci, A; Aprato, A; Belli, A; Bellistri, G; Benelli, P; Bona, S; Bonaiuti, D; Carimati, G; Canata, G L; Cassaghi, G; Cerulli, S; Delle Rose, G; Di Benedetto, P; Di Marzo, F; Di Pietto, F; Felicioni, L; Ferrario, L; Foglia, A; Galli, M; Gervasi, E; Gia, L; Giammattei, C; Guglielmi, A; Marioni, A; Moretti, B; Niccolai, R; Orgiani, N; Pantalone, A; Parra, F; Quaglia, A; Respizzi, F; Ricciotti, L; Pereira Ruiz, M T; Russo, A; Sebastiani, E; Tancredi, G; Tosi, F; Vuckovic, Z

    2016-01-01

    The nomenclature and the lack of consensus of clinical evaluation and imaging assessment in groin pain generate significant confusion in this field. The Groin Pain Syndrome Italian Consensus Conference has been organised in order to prepare a consensus document regarding taxonomy, clinical evaluation and imaging assessment for groin pain. A 1-day Consensus Conference was organised on 5 February 2016, in Milan (Italy). 41 Italian experts with different backgrounds participated in the discussion. A consensus document previously drafted was discussed, eventually modified, and finally approved by all members of the Consensus Conference. Unanimous consensus was reached concerning: (1) taxonomy (2) clinical evaluation and (3) imaging assessment. The synthesis of these 3 points is included in this paper. The Groin Pain Syndrome Italian Consensus Conference reached a consensus on three main points concerning the groin pain syndrome assessment, in an attempt to clarify this challenging medical problem. PMID:28890800

  11. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  12. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    PubMed

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  13. Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome.

    PubMed

    Krishnan, Vijay; Chawla, Ashish; Wee, Eric; Peh, Wilfred C G

    2015-02-01

    A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed by characteristic histopathological appearances of Peutz-Jeghers polyps. PJS is a rare hereditary condition characterised by unique hamartomatous polyps, perioral mucocutaneous pigmentations, and increased susceptibility to gastrointestinal and extraintestinal neoplasms. Patients usually present with recurrent abdominal pain due to intussusception caused by polyps. Other modes of presentations include rectal bleeding and melaena. We describe the imaging findings of PJS and provide a brief review of bowel polyposis syndromes. The latter are relatively rare disorders characterised by multiple polyps in the large or small intestine, with associated risk of malignancies and other extraintestinal manifestations. Awareness of the manifestations and early diagnosis of these syndromes is crucial to prevent further complications.

  14. Alpha lipoic acid efficacy in burning mouth syndrome. A controlled clinical trial

    PubMed Central

    Palacios-Sánchez, Begoña; Cerero-Lapiedra, Rocío; Llamas-Martínez, Silvia; Esparza-Gómez, Germán

    2015-01-01

    Background A double-blind placebo-controlled trial was conducted in order to evaluate the efficacy of alpha lipoic acid (ALA) and determine the statistical significance of the outcome variables. Burning mouth syndrome (BMS) is defined as an oral burning sensation in the absence of clinical signs which could justify the syndrome. Recent studies suggest the existence of neurological factors as a possible cause of the disease. Material and Methods 60 patients with BMS, in two groups: case group with 600 mg/day and placebo as control group; with follow up of 2 months. Results 64% of ALA patients reported some level of improvement, with a level of maintenance of 68.75% one month after treatment. 27.6% of the placebo group also demonstrated some reduction in BMS symptoms. Conclusions Long-term evolution and the intensity of symptoms are variables that reduce the probability of improvement with ALA treatment. Key words: Burning mouth syndrome, neuropathy, alpha lipoic acid. PMID:26034927

  15. [Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

    PubMed

    Qin, X Y; Dong, W K; Wang, W; Dong, Z Y; Xiao, Y; Lu, W L; Wang, D F

    2016-11-02

    Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. Conclusion: The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.

  16. Analysis on the Chinese medicine syndromes and demographic characteristics of patients with influenza-like illness in clinics of China.

    PubMed

    Ou, Ai-hua; Lu, Chuan-jian; Li, Ji-qiang; Li, Xiao-yan; Wen, Ze-huai; Deng, Hua; Xue, Su-qin; Ouyang, Wen-wei

    2014-02-01

    To investigate Chinese medicine (CM) patterns and epidemiological characters of patients with influenza-like illness (ILI) syndromes in clinics in China. A prospective multi-center observational epidemiology survey on the clinical CM patterns of ILI and its prevalence was conducted from September 2009 to April 2010. A unified survey questionnaire was developed for data collection of ILI symptoms and CM patterns. Totally 45 hospitals from 22 provinces, municipality cities and autonomous regions of China participated this study. The collected data were input by EPI-data v3.1 and analyzed by SPSS 18.0, which included descriptive analysis and Chi-square test for group comparison. A total of 5,967 ILI patients were included in the study. The proportion of the 18-34 aged group (56.2%) was the largest; students (41.0%) were more than other occupations. Majority of the patients had the wind-heat invading Lung (Fei) syndrome (76%), while in Southwest China mainly wind-heat invading Lung syndrome and wind-cold tightening the exterior syndrome occurred. The typical symptoms of ILI were ranked as fatigue (80.9%), cough (72.2%), sore throat (67.2%), muscular soreness (67.1%), headache (65.4%), aversion to cold (60.1%), thirst (55.1%) and nasal obstruction (48.1%). The ILI patients in clinics were mainly teenagers and young adults. In regard to CM syndrome, wind-heat invading Lung syndrome prevailed in all regions except the Southwest China. The characteristics of CM syndrome of ILI patients may be relevant to age and region distribution.

  17. Exogenous insulin antibody syndrome (EIAS): a clinical syndrome associated with insulin antibodies induced by exogenous insulin in diabetic patients.

    PubMed

    Hu, Xiaolei; Chen, Fengling

    2018-01-01

    Insulin has been used for diabetes therapy and has achieved significant therapeutic effect. In recent years, the use of purified and recombinant human insulin preparations has markedly reduced, but not completely suppressed, the incidence of insulin antibodies (IAs). IAs induced by exogenous insulin in diabetic patients is associated with clinical events, which is named exogenous insulin antibody syndrome (EIAS). The present review is based on our research and summarizes the characterization of IAs, the factors affecting IA development, the clinical significance of IAs and the treatments for EIAS. © 2018 The authors.

  18. Exogenous insulin antibody syndrome (EIAS): a clinical syndrome associated with insulin antibodies induced by exogenous insulin in diabetic patients

    PubMed Central

    Hu, Xiaolei

    2018-01-01

    Insulin has been used for diabetes therapy and has achieved significant therapeutic effect. In recent years, the use of purified and recombinant human insulin preparations has markedly reduced, but not completely suppressed, the incidence of insulin antibodies (IAs). IAs induced by exogenous insulin in diabetic patients is associated with clinical events, which is named exogenous insulin antibody syndrome (EIAS). The present review is based on our research and summarizes the characterization of IAs, the factors affecting IA development, the clinical significance of IAs and the treatments for EIAS. PMID:29233817

  19. Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Nieman, Lynnette K.; Biller, Beverly M. K.; Findling, James W.; Murad, M. Hassan; Newell-Price, John; Savage, Martin O.; Tabarin, Antoine

    2015-01-01

    Objective: The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. Participants: Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. The European Society for Endocrinology co-sponsored the guideline. Evidence: The Task Force used the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence. The Task Force commissioned three systematic reviews and used the best available evidence from other published systematic reviews and individual studies. Consensus Process: The Task Force achieved consensus through one group meeting, several conference calls, and numerous e-mail communications. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Conclusions: Treatment of Cushing's syndrome is essential to reduce mortality and associated comorbidities. Effective treatment includes the normalization of cortisol levels or action. It also includes the normalization of comorbidities via directly treating the cause of Cushing's syndrome and by adjunctive treatments (eg, antihypertensives). Surgical resection of the causal lesion(s) is generally the first-line approach. The choice of second-line treatments, including medication, bilateral adrenalectomy, and radiation therapy (for corticotrope tumors), must be individualized to each patient. PMID:26222757

  20. Difference of clinical phenotypes and immunological features of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries.

    PubMed

    Wichajam, Khunton; Kampan, Jureeporn

    2014-10-01

    22q11.2 deletion syndrome is a common microdeletion syndrome that affected various systems. To determine clinical phenotypes and immunologicalfeatures of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries. The authors described the clinical and immunological features in 20 north-eastern Thai children with 22q11.2 deletion syndrome that were followed-up at Srinagarind Hospital. Clinical phenotypes were facial dysmorphism (100%), congenital heart disease (80%) and cleft palate (30%). Prevalence of tetralogy of Fallot (TOF) in this syndrome was higher than in western. Serious infections were found including pneumonia, septicemia and brain abscess. Only a patient had panhypogammaglobulinemia and subsequently died. Selective IgA deficiency was not found. There was a twin patient conceivedfrom intracytoplasmic sperm injection (ICSI). TOF is more common in Asian patients than in western which different to selective IgA deficiency. The 22q11.2 deletion syndrome could be consequence from ICSI.

  1. Predictors of physical therapy clinic performance in the treatment of patients with low back pain syndromes.

    PubMed

    Resnik, Linda; Liu, Dawei; Mor, Vince; Hart, Dennis L

    2008-09-01

    Little is known about organizational and service delivery factors related to quality of care in physical therapy. This study sought to identify characteristics related to differences in practice outcomes and service utilization. The sample comprised 114 outpatient clinics and 1,058 therapists who treated 16,281 patients with low back pain syndromes during the period 2000-2001. Clinics participated with the Focus on Therapeutic Outcomes, Inc (FOTO) database. Hierarchical linear models were used to risk adjust treatment outcomes and number of visits per treatment episode. Aggregated residual scores from these models were used to classify each clinic into 1 of 3 categories in each of 3 types of performance groups: (1) effectiveness, (2) utilization, and (3) overall performance (ie, composite measure of effectiveness and utilization). Relationships between clinic classification and the following independent variables were examined by multinomial logistic regression: years of therapist experience, number of physical therapists, ratio of physical therapists to physical therapist assistants, proportion of patients with low back pain syndromes, number of new patients per physical therapist per month, utilization of physical therapist assistants, and setting. Clinics that were lower utilizers of physical therapist assistants were 6.6 times more likely to be classified into the high effectiveness group compared with the low effectiveness group, 6.7 times more likely to be classified in the low utilization group compared with the high utilization group, and 12.4 times more likely to be classified in the best performance group compared with the worst performance group. Serving a higher proportion of patients with low back pain syndromes was associated with an increased likelihood of being classified in the lowest or middle group. Years of physical therapist experience was inversely associated with being classified in the middle utilization group compared with the highest

  2. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    PubMed

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. [Clinical features of the hand-arm vibration syndrome in miners].

    PubMed

    Kákosy, Tibor; Németh, László; Kiss, Gábor; Lászlóffy, Marianna; Kardos, Kálmán

    2006-05-07

    It is well known that the vibrating tools used by the miners can cause hand-arm vibration syndrome. However no detailed reports on this field could be found in the Hungarian literature. The aim of this study was to clarify the clinical features of the hand-arm vibration syndrome of the miners. The circulation, the peripheral nerves and the osteoarticular system of the upper extremities of 152 miners were examined by means of cold provocation test, Allen-test, measurement of systolic blood pressure performed by Doppler flowmeter, clinical neurological and neurographic examination and X-ray investigation of the bones and joints. Hand-arm vibration syndrome was diagnosed in 87 patients (57.2%). The most common symptom was the lesion of the circulation which occurred in 78 patients (89.6%). The peripheral nerves were affected in 44 cases (50.5%). Radiological alteration of the bones and joints of the upper extremities was observed in 32 patients (36.8%). Out of 78 damaged cases the frequency of the vascular diseases was as follows: angiopathy (diminished systolic blood pressure in the fingers): 66 patient (84.6%), occlusion of the hand arteries (positive Allen-test) and arterial form of the thoracic outlet syndrome (positive elevation-test) respectively: 28 and 28 cases (35.9%), Raynaud phenomenon (positive cold-provocation test): 26 cases (33.3%). The peripheral nerves were examined in detail in 141 cases. Pathological alterations were observed in 78 patients (55.3%) in the following forms: carpal tunnel syndrome: 66 cases (84.6%), peripheral neuropathy of the upper limbs: 20 patients (25.6%), lesion of the ulnar nerve: 3 cases (3.8%), brachial plexus lesion: one patient (1.3%). Radiological alteration was most common in the carpal region (87 cases, 57.2%). The frequency of the lesion of cubital (40.4%) and shoulder region (40.7%) was practically the same. In the carpal region the most common alterations were the degenerative processes (23 cases, 15.1%) followed by

  4. [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.

  5. [Clinical and neuropsychological characteristics in congenital central hypoventilation syndrome].

    PubMed

    Seijas-Gomez, R; Esteso-Orduna, B; Melero-Llorente, J; Fournier-Del Castillo, M C

    2018-05-01

    Congenital central hypoventilation syndrome (CCHS) syndrome is a rare disease caused by mutations in the PHOX2B gene. Patients show a reduced response to hypercapnia and hypoxia accompanied by diffuse disturbances of the autonomic nervous system and occasionaly also disturbances in neuroimaging. A specific neuropsychological profile has not been described in children and adolescents with CCHS. We describe three cases (aged between 4 and 19 years) with different profiles of affectation in cognitive and functionality. These profiles are compared with the features described in the literature about neuropsychology in CCHS. The profile of functional impairment in the CCHS is variable: in case 1, a severe global developmental delay with autistic features and marked functional involvement is described. In case 2, bilateral atrophy of the hippocampus is associated with involvement in social cognition and in executive functions with moderate functional repercussion. Case 3 shows difficulties in some cognitive executive functions (planning and non-verbal fluency), but without functional repercussion. Neuropsychological assessment can help in the clinical management of these patients by determining and guiding the need for rehabilitation treatments.

  6. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

    ERIC Educational Resources Information Center

    Young, Walter C.; And Others

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  7. "Klebsiella Pneumonia" Liver Abscess Syndrome: Case Presentation to a College Student Health Clinic

    ERIC Educational Resources Information Center

    Woll, Christopher; Spotts, P. Hunter

    2016-01-01

    The authors describe a case of "Klebsiella pneumoniae" liver abscess (KPLA) in a student presenting to a university student health center. The authors also provide a review of KPLA and invasive "Klebsiella pneumoniae" liver abscess syndrome (IKPLAS), including epidemiology, common clinical manifestations, standard diagnostic…

  8. Rational clinical evaluation of suspected acute coronary syndromes: The value of more information.

    PubMed

    Hancock, David G; Chuang, Ming-Yu Anthony; Bystrom, Rebecca; Halabi, Amera; Jones, Rachel; Horsfall, Matthew; Cullen, Louise; Parsonage, William A; Chew, Derek P

    2017-12-01

    Many meta-analyses have provided synthesised likelihood ratio data to aid clinical decision-making. However, much less has been published on how to safely combine clinical information in practice. We aimed to explore the benefits and risks of pooling clinical information during the ED assessment of suspected acute coronary syndrome. Clinical information on 1776 patients was collected within a randomised trial conducted across five South Australian EDs between July 2011 and March 2013. Bayes theorem was used to calculate patient-specific post-test probabilities using age- and gender-specific pre-test probabilities and likelihood ratios corresponding to the presence or absence of 18 clinical factors. Model performance was assessed as the presence of adverse cardiac outcomes among patients theoretically discharged at a post-test probability less than 1%. Bayes theorem-based models containing high-sensitivity troponin T (hs-troponin) outperformed models excluding hs-troponin, as well as models utilising TIMI and GRACE scores. In models containing hs-troponin, a plateau in improving discharge safety was observed after the inclusion of four clinical factors. Models with fewer clinical factors better approximated the true event rate, tended to be safer and resulted in a smaller standard deviation in post-test probability estimates. We showed that there is a definable point where additional information becomes uninformative and may actually lead to less certainty. This evidence supports the concept that clinical decision-making in the assessment of suspected acute coronary syndrome should be focused on obtaining the least amount of information that provides the highest benefit for informing the decisions of admission or discharge. © 2017 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

  9. 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 ...

  10. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings.

    PubMed

    Liu, Tao; Wang, Ning; Zhang, Li; Zhong, Linda

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS.

  11. 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.

  12. Effects of bilimbi (Averrhoa bilimbi L.) and tamarind (Tamarindus indica L.) juice on Listeria monocytogenes Scott A and Salmonella Typhimurium ATCC 14028 and the sensory properties of raw shrimps.

    PubMed

    Norhana, M N Wan; Azman, Mohd Nor A; Poole, Susan E; Deeth, Hilton C; Dykes, Gary A

    2009-11-30

    The potential of using juice of bilimbi (Averrhoa bilimbi L.) and tamarind (Tamarindus indica L.) to reduce Listeria monocytogenes Scott A and Salmonella Typhimurium ATCC 14028 populations on raw shrimps after washing and during storage (4 degrees C) was investigated. The uninoculated raw shrimps and those inoculated with approximately 9 log cfu/ml of L. monocytogenes Scott A and S. Typhimurium ATCC 14028 were washed (dipped or rubbed) in distilled water (SDW) (control), bilimbi or tamarind juice at 1:4 (w/v) concentrations for 10 and 5 min. Naturally occurring aerobic bacteria (APC), L. monocytogenes Scott A and S. Typhimurium ATCC 14028 counts, pH values and sensory analysis of washed shrimps were determined immediately after washing (day 0), and on days 3 and 7 of storage. Compared to SDW, bilimbi and tamarind juice significantly (p<0.05) reduced APC (0.40-0.70 log cfu/g), L. monocytogenes Scott A (0.84-1.58 log cfu/g) and S. Typhimurium ATCC 14028 (1.03-2.00 log cfu/g) populations immediately after washing (0 day). There was a significant difference (p<0.05) in bacterial reduction between the dipping (0.40-0.41 log for APC; 0.84 for L. monocytogenes Scott A and 1.03-1.09 log for S. Typhimurium ATCC 14028) and rubbing (0.68-0.70 log for APC; 1.34-1.58 for L. monocytogenes Scott A and 1.67-2.00 log for S. Typhimurium ATCC 14028) methods. Regardless of washing treatments or methods, populations of S. Typhimurium ATCC 14028 decreased slightly (5.10-6.29 log cfu/g on day 7 of storage) while populations of L. monocytogenes Scott A (8.74-9.20 log cfu/g) and APC (8.68-8.92 log cfu/g) increased significantly during refrigerated storage. The pH of experimental shrimps were significantly (p<0.05) decreased by 0.15-0.22 pH units after washing with bilimbi and tamarind juice. The control, bilimbi or tamarind-washed shrimps did not differ in sensory panellist acceptability (p>0.05) throughout the storage except for odour (p<0.05) attributes at 0 day when acidic or lemony

  13. Down Syndrome in the Neurology Clinic: Too Much? Too Little? Too Late?

    ERIC Educational Resources Information Center

    Larner, Andrew J.

    2007-01-01

    This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in greater than 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in…

  14. Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

    PubMed

    Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

    2017-07-01

    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

  15. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    PubMed Central

    Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris; Woodhead, Helen; Fyfe, Sue; Ward, Leanne M.; Munns, Craig; Motil, Kathleen; Tarquinio, Daniel; Shapiro, Jay R.; Brismar, Torkel; Ben-Zeev, Bruria; Bisgaard, Anne-Marie; Coppola, Giangennaro; Ellaway, Carolyn; Freilinger, Michael; Geerts, Suzanne; Humphreys, Peter; Jones, Mary; Lane, Jane; Larsson, Gunilla; Lotan, Meir; Percy, Alan; Pineda, Mercedes; Skinner, Steven; Syhler, Birgit; Thompson, Sue; Weiss, Batia; Witt Engerström, Ingegerd; Downs, Jenny

    2016-01-01

    Objectives We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. Methods An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions. Results Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended. Conclusion A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity. PMID:26849438

  16. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.

    PubMed

    Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris; Woodhead, Helen; Fyfe, Sue; Ward, Leanne M; Munns, Craig; Motil, Kathleen; Tarquinio, Daniel; Shapiro, Jay R; Brismar, Torkel; Ben-Zeev, Bruria; Bisgaard, Anne-Marie; Coppola, Giangennaro; Ellaway, Carolyn; Freilinger, Michael; Geerts, Suzanne; Humphreys, Peter; Jones, Mary; Lane, Jane; Larsson, Gunilla; Lotan, Meir; Percy, Alan; Pineda, Mercedes; Skinner, Steven; Syhler, Birgit; Thompson, Sue; Weiss, Batia; Witt Engerström, Ingegerd; Downs, Jenny

    2016-01-01

    We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions. Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended. A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.

  17. Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.

    PubMed

    Monlleo-Neila, Laura; Toro, Mireia Del; Bornstein, Belen; Garcia-Arumi, Elena; Sarrias, Axel; Roig-Quilis, Manuel; Munell, Francina

    2013-11-01

    The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis and cardiac conduction abnormalities, particularly Wolff-Parkinson-White syndrome, and have a late clinical onset, which contrasts with the typical infantile form. The authors describe a patient presenting with intrauterine growth retardation and visual impairment at 3 months of age, followed by infantile spasms, severe gastrointestinal dysmotility, and neurological regression. The patient had hyperlactacidemia and bilateral basal ganglia and brainstem lesions on MRI. Although he did not present cardiac conduction abnormalities, his mother had been diagnosed with Wolff-Parkinson-White syndrome. The m.13513G>A mutation was found in the patient's muscle and in several tissues of his mother. The present results expand the phenotype of Leigh syndrome associated with the m.13513G>A mutation, which should be suspected in patients with early-onset mitochondrial encephalopathy with infantile spasms or prominent gastrointestinal smooth muscle involvement.

  18. An Unintentional System of Gaps: A Phenomenological Reading of Scott O'Dell's "Island of the Blue Dolphins."

    ERIC Educational Resources Information Center

    Tarr, C. Anita

    1997-01-01

    Argues that, in "Island of the Blue Dolphins," Scott O'Dell offers a skeleton main character (Karana). Contends that O'Dell has sketched Karana as a stereotype and that readers complete her characterization, filling out the skeleton by perpetuating the stereotypes. Points out this trading of stereotype for true character development in…

  19. 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

  20. Li-Fraumeni syndrome: cancer risk assessment and clinical management.

    PubMed

    McBride, Kate A; Ballinger, Mandy L; Killick, Emma; Kirk, Judy; Tattersall, Martin H N; Eeles, Rosalind A; Thomas, David M; Mitchell, Gillian

    2014-05-01

    Carriers of germline mutations in the TP53 gene, encoding the cell-cycle regulator and tumour suppressor p53, have a markedly increased risk of cancer-related morbidity and mortality during both childhood and adulthood, and thus require appropriate and effective cancer risk management. However, the predisposition of such patients to multiorgan tumorigenesis presents a specific challenge for cancer risk management programmes. Herein, we review the clinical implications of germline mutations in TP53 and the evidence for cancer screening and prevention strategies in individuals carrying such mutations, as well as examining the potential psychosocial implications of lifelong management for a ubiquitous cancer risk. In addition, we propose an evidence-based framework for the clinical management of TP53 mutation carriers and provide a platform for addressing the management of other cancer predisposition syndromes that can affect multiple organs.

  1. Evaluating sub-clinical cognitive dysfunction and event-related potentials (P300) in clinically isolated syndrome.

    PubMed

    Kocer, Belgin; Unal, Tugba; Nazliel, Bijen; Biyikli, Zeynep; Yesilbudak, Zulal; Karakas, Sirel; Irkec, Ceyla

    2008-12-01

    This study investigated the presence of sub-clinical cognitive dysfunction in patients with clinically isolated syndrome (CIS) and the abnormalities of cognitive event-related potentials (ERPs). Subclinical cognitive dysfunction was assessed in 20 patients with CIS and in 20 healthy controls. Patients had impairments in verbal learning and long-term memory, evaluating attention, executive function and visuospatial skills, in decreasing order of frequency. SDLT and SIT were the most, and COWAT and BNT were the least affected tests. The N200 and P200 latencies were prolonged, and N100, N200 and P200 amplitudes were reduced in the patients relative to the controls, from the Fz, Cz and Pz electrode positions (p<0.05). Detailed cognitive testing is valuable in determining subclinical cognitive dysfunction in CIS patients. ERP abnormalities as well as abnormalities in detailed cognitivetesting in patients with CIS are helpful in the diagnosis of sub-clinical cognitive dysfunction.

  2. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

    PubMed

    Leigh, Margaret W; Pittman, Jessica E; Carson, Johnny L; Ferkol, Thomas W; Dell, Sharon D; Davis, Stephanie D; Knowles, Michael R; Zariwala, Maimoona A

    2009-07-01

    Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

  3. Natural history and clinical characteristics of 50 patients with Wolfram syndrome.

    PubMed

    Bueno, Gema Esteban; Ruiz-Castañeda, Dyanne; Martínez, Javier Ruiz; Muñoz, Manuel Romero; Alascio, Pedro Carrillo

    2018-05-04

    To describe clinical characteristics of diabetes mellitus (DM) in a group of patients with Wolfram Syndrome (WS). Descriptive, cross-sectional observational design. The sample consisted of 50 patients diagnosed with WS. Clinical criteria contributing to WS diagnosis were analyzed: diabetes mellitus (DM), optic nerve atrophy (OA), sensorineural deafness, urological and neurological dysfunction, among others. These parameters were assessed according to their presence/absence, age of onset, and various clinical-analytical parameters. All the patients studied presented DM and OA, with a mean age of onset of 5.4 ± .9 (1-14) years and 9 ± .9 (1-16) years, respectively. The remaining criteria were present with a variable frequency: 77% had diabetes insipidus, 66.7% auditory alterations, 77.8% neurogenic bladder, 61.1% neurological involvement, and 27.8% hypogonadism. A 16.7% of the patients had positive albuminuria (urinary albumin/creatinine ratio > 30 mg/g) and 72.2% had hyporreflexia. There were no significant differences in the age of diagnosis nor of the presence of different pathologies according to sex. The early presence of a non-autoimmune insulin dependent DM, should alert us of an "infrequent" diabetes syndrome. Wolfram's presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.

  4. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

    PubMed Central

    Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

    2016-01-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

  5. Professor John Scott, folate and neural tube defects.

    PubMed

    Hoffbrand, A Victor

    2014-02-01

    John Scott (1940-2013) was born in Dublin where he was to spend the rest of his career, both as an undergraduate and subsequently Professor of Biochemistry and Nutrition at Trinity College. His research with the talented group of scientists and clinicians that he led has had a substantial impact on our understanding of folate metabolism, mechanisms of its catabolism and deficiency. His research established the leading theory of folate involvement with vitamin B12 in the pathogenesis of vitamin B12 neuropathy. He helped to establish the normal daily intake of folate and the increased requirements needed either in food or as a supplement before and during pregnancy to prevent neural tube defects. He also suggested a dietary supplement of vitamin B12 before and during pregnancy to reduce the risk of neural tube defects. It would be an appropriate epitaph if fortification of food with folic acid became mandatory in the UK and Ireland, as it is in over 70 other countries. © 2013 John Wiley & Sons Ltd.

  6. 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, ...

  7. Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.

    PubMed

    Absoud, Michael; Lim, Ming J; Chong, Wui K; De Goede, Christian G; Foster, Katharine; Gunny, Roxana; Hemingway, Cheryl; Jardine, Philip E; Kneen, Rachel; Likeman, Marcus; Nischal, Ken K; Pike, Michael G; Sibtain, Naomi A; Whitehouse, William P; Cummins, Carole; Wassmer, Evangeline

    2013-01-01

    Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in the childhood population affected with first onset acquired demyelinating syndromes (ADSs). We aimed to determine the incidence, clinical, investigative and magnetic resonance imaging (MRI) features of childhood central nervous system ADSs in the British Isles for the first time. We conducted a population active surveillance study. All paediatricians, and ophthalmologists (n = 4095) were sent monthly reporting cards (September 2009-September 2010). International Paediatric MS Study Group 2007 definitions and McDonald 2010 MS imaging criteria were used for acute disseminated encephalomyelitis (ADEM), clinically isolated syndrome (CIS) and neuromyelitis optica (NMO). Clinicians completed a standard questionnaire and provided an MRI copy for review. Card return rates were 90%, with information available for 200/222 positive notifications (90%). After exclusion of cases, 125 remained (age range 1.3-15.9), with CIS in 66.4%, ADEM in 32.0% and NMO in 1.6%. The female-to-male ratio in children older than 10 years (n = 63) was 1.52:1 (p = 0.045). The incidence of first onset ADS in children aged 1-15 years old was 9.83 per million children per year (95% confidence interval [CI] 8.18-11.71). A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children. Importantly, a number of MRI characteristics distinguished ADEM from CIS cases. Of CIS cases with contrast imaging, 26% fulfilled McDonald 2010 MS diagnostic criteria. We report the highest surveillance incidence rates of childhood ADS. Paediatric MS diagnosis at first ADS presentation has implications for clinical practice and clinical trial design.

  8. [Clinical and genetic investigation of families with Waardenburg syndrome type 2].

    PubMed

    Chen, H S; Liao, X B; Liu, Y L; He, C F; Zhang, H; Jiang, L; Feng, Y; Mei, L Y

    2016-12-01

    Objective: To investigate the clinical chacteration and molecular pathology of Waardenburg syndrome type 2 in seven families, and provide genetic diagnosis and hereditary counseling for family members. Method: Clinical data of seven families with WS2(14 patients)were collected. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of microphthalmia associated transcription factor (MITF), sex-determining region Y-box 10(SOX10), snail family zinc finger 2 (SNAI2) and endothelin receptor type B(EDNRB)were analyzed by polymerase chain reaction and DNA sequencing. Then the raw data was analyzed. Result: The most common manifestations of WS2 are sensorineural hearing loss(10/14,71.4%), freckle(7/14, 50.0%),heterochromia iridis(6/14, 42.9%) and premature greying(5/14,35.7%). All the deafness phenotype is congenital, bilateral profound sensorineural hearing loss. Freckles phenotype is different from cutaneous pigment abnormalities of WS in Westerners. The heterozygous mutation, c.328C>T in exon 3 of the MITF gene was detected in the proband and all patients of pedigree 2. However, no pathological mutation of the relevant genes (SOX10,SNAI2 and EDNRB) was detected in other pedigrees. Conclusion: There are obvious variations in clinical features of WS, while freckles may be a special subtype of cutaneous pigment disturbances. The MITF gene mutation, R110X,is therefore considered the disease causing mutation in pedigree WS02.However, there are novel disease causing genes or copy number variations in Waardenburg syndrome type 2, which require further research. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  9. No Absolutism Here: Harm Predicts Moral Judgment 30× Better Than Disgust-Commentary on Scott, Inbar, & Rozin (2016).

    PubMed

    Gray, Kurt; Schein, Chelsea

    2016-05-01

    Moral absolutism is the idea that people's moral judgments are insensitive to considerations of harm. Scott, Inbar, and Rozin (2016, this issue) claim that most moral opponents to genetically modified organisms are absolutely opposed-motivated by disgust and not harm. Yet there is no evidence for moral absolutism in their data. Perceived risk/harm is the most significant predictor of moral judgments for "absolutists," accounting for 30 times more variance than disgust. Reanalyses suggest that disgust is not even a significant predictor of the moral judgments of absolutists once accounting for perceived harm and anger. Instead of revealing actual moral absolutism, Scott et al. find only empty absolutism: hypothetical, forecasted, self-reported moral absolutism. Strikingly, the moral judgments of so-called absolutists are somewhat more sensitive to consequentialist concerns than those of nonabsolutists. Mediation reanalyses reveal that moral judgments are most proximally predicted by harm and not disgust, consistent with dyadic morality. © The Author(s) 2016.

  10. Eligibility for clinical trials in primary Sjögren's syndrome: lessons from the UK Primary Sjögren's Syndrome Registry.

    PubMed

    Oni, Clare; Mitchell, Sheryl; James, Katherine; Ng, Wan-Fai; Griffiths, Bridget; Hindmarsh, Victoria; Price, Elizabeth; Pease, Colin T; Emery, Paul; Lanyon, Peter; Jones, Adrian; Bombardieri, Michele; Sutcliffe, Nurhan; Pitzalis, Costantino; Hunter, John; Gupta, Monica; McLaren, John; Cooper, Annie; Regan, Marian; Giles, Ian; Isenberg, David; Saravanan, Vadivelu; Coady, David; Dasgupta, Bhaskar; McHugh, Neil; Young-Min, Steven; Moots, Robert; Gendi, Nagui; Akil, Mohammed; Barone, Francesca; Fisher, Ben; Rauz, Saaeha; Richards, Andrea; Bowman, Simon J

    2016-03-01

    To identify numbers of participants in the UK Primary Sjögren's Syndrome Registry (UKPSSR) who would fulfil eligibility criteria for previous/current or potential clinical trials in primary SS (pSS) in order to optimize recruitment. We did a retrospective analysis of UKPSSR cohort data of 688 participants who had pSS with evaluable data. In relation to previous/current trials, 75.2% fulfilled eligibility for the Belimumab in Subjects with Primary Sjögren's Syndrome study (Belimumab), 41.4% fulfilled eligibility for the Trial of Remicade in primary Sjögren's syndrome study (Infliximab), 35.4% for the Efficacy of Tocilizumab in Primary Sjögren's Syndrome study (Tocilizumab), 31.6% for the Tolerance and Efficacy of Rituximab in Sjögren's Disease study (Rituximab), 26.9% for the Trial of anti-B-cell therapy in pSS study (Rituximab) and 26.6% for the Efficacy and Safety of Abatacept in Patients With Primary Sjögren's Syndrome study (Abatacept). If recent measures of outcome, such as the EULAR Sjögren's Syndrome Patient Reported Index (ESSPRI) score ⩾5 (measure of patient symptoms) and the EULAR Sjögren's Syndrome Disease Activity Index (ESSDAI) score ⩾5 (measure of systemic disease activity) are incorporated into a study design, with requirements for an unstimulated salivary flow >0 and anti-Ro positivity, then the pool of eligible participants is reduced to 14.3%. The UKPSSR identified a number of options for trial design, including selection on ESSDAI ⩾5, ESSPRI ⩾5 and serological and other parameters. © The Author 2015. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. The Development of a Clinical Screening Instrument For Tumour Predisposition Syndromes In Childhood Cancer Patients

    PubMed Central

    Hopman, Saskia M. J.; Merks, Johannes H. M.; de Borgie, Corianne A. J. M.; Aalfs, C. M.; Biesecker, Leslie G.; Cole, Trevor; Eng, Charis; Legius, Eric; Maher, Eamonn R.; van Noesel, Max M.; Verloes, Alain; Viskochil, David H.; Wagner, Anja; Weksberg, Rosanna; Caron, Huib N.; Hennekam, Raoul C. M.

    2014-01-01

    Background Identification of tumour predisposition syndromes in patients who have cancer in childhood is paramount for optimal care. A screening instrument that can help to identify such patients will facilitate physicians caring for children with cancer. The complete screening instrument should consist of a standardized series of pictures and a screening form for manifestations not visible in the pictures. Here we describe the development of such a screening form based on an international two-stage Delphi process and an initial validation of the complete instrument. Patients and Methods We identified manifestations that may contribute to the diagnosis of a tumour predisposition syndrome through the Winter-Baraitser Dysmorphology Database and the textbook “Gorlin's Syndromes of the Head and Neck”. In a two-round Delphi process, eight international content-experts scored the contribution of each of these manifestations. We performed a clinical validation of the instrument in a selected cohort of ten paediatric cancer patients from another centre. Results In total, 49 manifestations were found to contribute to the diagnosis of a tumour predisposition syndrome and were included in the screening form. The pilot validation study showed that patients suspect for having a tumour predisposition syndrome were recognized. Excellent correlation for indication for referral of a patient between the screening instrument and the reference standard (personal evaluation by an experienced clinical geneticist) was found.). Conclusions The Delphi process performed by international specialists with a function as opinion leaders in their field of expertise has led to a screening form and instrument with which those childhood cancer patients can be identified who may have a tumour predisposition syndrome and thus have an indication to be referred for further genetic analysis. PMID:23855994

  12. [Superior vena cava syndrome--clinical aspects, etiology and case reports].

    PubMed

    Serdarevic, M; Löhr, E; Reidemeister, J C

    1984-06-01

    The so-called superior-Cava Syndrome is caused by obstructions by centrally localized tumors by thrombosis or by inflammations of the mediastinum. In cases of tumorous infiltration a graft can be inserted. The different phenomena of thrombosis caused by nutritial catheters and pace makers are of clinical importance. Acute thrombosis of the brachio-cervical veins and the Vena Cava can be treated successfully by means of thrombolysis. Besides CT bilateral brachial phlebography communicates optimal information concerning localization of vascular obstruction and collateral circuits.

  13. Hantavirus pulmonary syndrome: a concise clinical review.

    PubMed

    Vinh, Donald C; Embil, John M

    2009-06-01

    In 1978, hantaviruses were first described as the etiological agent of hemorrhagic fever with renal syndrome (HFRS) in Korea. Since then, numerous related, enveloped, negative-stranded RNA viruses have been identified, forming the genus Hantavirus within the family Bunyaviridae. These pathogens are distributed worldwide and thus can be classified, on the basis of phylogenetic origins, into Old World viruses or New World viruses (ie North, Central, and South America). Similarly, these viruses cause two major types of syndromes, corresponding respectively to their phylogenies: the original HFRS or the more recently described hantavirus pulmonary syndrome (HPS). As the hantavirus pulmonary syndrome is the primary hantaviral disease in North America, it will thus be the focus of this review.

  14. 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)

  15. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

    PubMed

    Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, Michael J; Magee, Alex C; Elffers, Bart; Kooy, R Frank; Yntema, Helger G; Meijers-Heijboer, Elizabeth J; Sistermans, Erik A

    2016-08-01

    AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

    PubMed

    Shoo, Brenda A; McPherson, Elizabeth; Jabs, Ethylin Wang

    2004-04-01

    Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS. This same mutation was found in the clinically unaffected mother's leukocytes, hair root bulbs, buccal mucosa, urine, and stool. The mother has a clinically unaffected child and the maternal grandparents do not have the mutation. Because the mother has the mutation in cells derived from all three germ layers, we suspected the mutation was nonpenetrant. However, we could not detect the mutation in her skin fibroblasts, suggesting she is mosaic secondary to cell type specific selection. Copyright 2003 Wiley-Liss, Inc.

  17. Clinical pathways for acute coronary syndromes in China: protocol for a hospital quality improvement initiative.

    PubMed

    Rong, Ye; Turnbull, Fiona; Patel, Anushka; Du, Xin; Wu, Yangfeng; Gao, Runlin

    2010-09-01

    Clinical pathways have been shown to be effective in improving quality of care for patients admitted to hospital for acute coronary syndromes (ACS) in high-income countries. However, their utility has not formally been evaluated in low- or middle-income countries. The Clinical Pathways for Acute Coronary Syndromes in China program is a 7-year study with the overall goal of reducing evidence-practice gaps in the management of patients admitted to hospitals in China with suspected ACS. The program comprises 2 phases: a prospective survey of current management of ACS patients to identify the areas that evidence-based patient care can be potentially improved, and a quality care initiative to maximize the use of evidence-based investigations and treatments for ACS patients in China. In this article, we outline the details of the study protocol, including key aspects of the development, implementation, and evaluation of the quality improvement initiative (clinical pathway) for management of patients with suspected ACS.

  18. Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.

    PubMed

    Itoh, Masayuki; Ide, Shuhei; Iwasaki, Yuji; Saito, Takashi; Narita, Keishi; Dai, Hongmei; Yamakura, Shinji; Furue, Takeki; Kitayama, Hirotsugu; Maeda, Keiko; Takahashi, Eihiko; Matsui, Kiyoshi; Goto, Yu-Ichi; Takeda, Sen; Arima, Masataka

    2018-04-01

    Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients. All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290 kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  19. A new T2 lesion in a patient with the clinically isolated syndrome does not necessarily imply a conversion to multiple sclerosis.

    PubMed

    Capone, Fioravante; Puthenparampil, Marco; Mallio, Carlo Augusto; Celia, Alessandra Ida; Florio, Lucia; Gallo, Paolo; Di Lazzaro, Vincenzo

    2018-01-01

    In the follow-up of patients with the clinically isolated syndrome, both clinical and MRI findings should be carefully evaluated by clinicians to avoid misinterpretation and inappropriate diagnosis of multiple sclerosis. We describe a case of a patient with a previous diagnosis of clinically isolated syndrome who developed a new asymptomatic brain lesion at the MRI follow-up. The careful evaluation of clinical history and radiological findings allowed the correct diagnosis of cocaine-associated ischemic stroke. Our case highlights that, in patients with the clinically isolated syndrome, the appearance of a new lesion on MRI does not necessarily imply a conversion to multiple sclerosis. Among "better explanations", ischemic lesions are of relevance and, in patients without typical risk factors for stroke, rarer causes such as cocaine assumption should be considered. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Compartment syndrome after total knee arthroplasty: regarding a clinical case☆

    PubMed Central

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury. PMID:26401507

  1. Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

    PubMed

    Kos, Sebastian; Roth, Katharina; Korinth, Dirk; Zeilinger, Georg; Eich, Georg

    2008-08-01

    We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKKS.

  2. [The transsexualism syndrome: clinical aspects and therapeutic prospects].

    PubMed

    Gallarda, T; Amado, I; Coussinoux, S; Poirier, M F; Cordier, B; Olié, J P

    1997-01-01

    The prevalence rate of transsexualism varies from 1 to 50,000, to 1 to 100,000. Although it remains an infrequent affliction, transsexualism generates usually major suffering and may be responsible of many complications like suicide, self-mutilations, affective disorders and social disabilities. Since the first descriptions of Esquirol in the nineteenth, the medical community has always been questioned on medical, legal, social or ethical aspects of transsexualism. The aetiology of the trouble is still unknown. In the absence of biological marker, the syndrome of transsexualism can be defined only with clinical criteria. The main differential diagnosis are sexual ambiguities and psychotic disorders. For the specialists, satisfying the patients demand of a surgical and social reassignment still remains the only way to improve their clinical condition and avoid the onset of many dramatic complications. Without any treatment, the evolution of the trouble is chronic, without remission. Longitudinal studies of transsexual patients with a five year follow-up demonstrated subjective improvement in two thirds of the patients and don't find either higher rates of suicides nor psychotic decompensations after surgery and hormonotherapy. Clinical and neuropsychological studies of sexually differentiated cognitive abilities of transsexual patients, before and after hormonotherapy, could allow us in improving the understanding of sexual differences of the brain.

  3. An Author as a Counter-Storyteller: Applying Critical Race Theory to a "Coretta Scott King Award Book"

    ERIC Educational Resources Information Center

    Brooks, Wanda

    2009-01-01

    This article analyzes the 2002 Coretta Scott King Award book by Mildred Taylor entitled "The Land". The novel and its author are situated within a tradition of historical fiction written by and about African Americans. I then offer an analysis that utilizes Critical Race Theory as an interpretive tool for examining the ways Taylor embeds meanings…

  4. Clinical correlations of dry eye syndrome and allergic conjunctivitis in Korean children.

    PubMed

    Kim, Tae Hyung; Moon, Nam Ju

    2013-01-01

    Clinical patterns in pediatric patients with dry eye syndrome and allergic conjunctivitis were investigated. Children aged 6 to 15 years with dry eye symptoms were included. Slit-lamp examinations including tear film break-up time, Schirmer's test, and fluorescent staining were performed, and subjective symptoms were investigated. Patients with allergic conjunctivitis were subjected to skin prick tests. Tear film break-up time was shorter and the number of symptoms related to dry eyes was higher in pediatric patients with allergic conjunctivitis than in those without allergic conjunctivitis. Patients with allergic conjunctivitis who had higher numbers of positive allergens on the skin prick test also had shorter tear film break-up time. Because pediatric patients with dry eye syndrome tend to complain less about their symptoms than adult patients, dry eye syndrome is commonly overlooked. This study showed that dry eyes tended to be more severe with the presence of allergic conjunctivitis; the more allergens present, the more severe the dry eyes. More attention should be paid to the treatment of pediatric patients with dry eyes accompanied by allergies. Copyright 2013, SLACK Incorporated.

  5. Usher syndrome in the city of Birmingham—prevalence and clinical classification

    PubMed Central

    Hope, C; Bundey, S; Proops, D; Fielder, A

    1997-01-01

    AIMS—To estimate the prevalence of Usher syndrome in the city of Birmingham, and to establish a database of patients who have been classified into different clinical subtypes essential for future gene mutation analysis.
METHODS—Symptomatic cases of Usher syndrome (US) resident in the city of Birmingham in June 1994 were ascertained through multiple sources. Ophthalmic and audiological reassessment together with examination of medical records and patient questionnaires allowed classification of three subtypes, US 1, US 2, and US 3. In addition, family pedigrees were examined and blood was taken from index patients for DNA extraction.
RESULTS—In the population aged over 15 years the prevalence was 6.2 per 100 000 population for all US subtypes. The prevalence for US 1 and US 2 was 5.3 per 100 000 population. This is greater than previously reported. In the age group 30-49 years the prevalence approached 1 in 10 000. Clinical classification found 33% US 1, 47% US 2, and 20% US 3.
CONCLUSION—This higher prevalence rate and greater frequency of US 2 and US 3 may reflect a more complete ascertainment.

 PMID:9135408

  6. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

    PubMed Central

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Introduction Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Aim Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. Materials and methods We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. Results The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. Conclusion The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical

  7. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Saitoh, S.; Cassidy, S.B.; Conroy, J.M.

    Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13, and thus appear to have a mutation in the imprinting process for this region. Here we describe detailed clinical findings of five AS imprinting mutation patients (three families) and two PWS imprinting mutation patients (one new family). All these patients have essentially the classical clinical phenotype for the respective syndrome, except that the incidence of microcephaly is lower in imprintingmore » mutation AS patients than in deletion AS patients. Furthermore, imprinting mutation AS and PWS patients do not typically have hypopigmentation, which is commonly found in patients with the usual large deletion. Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ZNF127, PW71 (D15S63), and SNRPN loci. The latter two probes have clear advantages in the simple molecular diagnostic analysis of PWS and AS patients with an imprinting mutation, as has been found for typical deletion or UPD PWS and AS cases. With the recent finding of inherited microdeletions in PWS and AS imprinting mutation families, our studies define a new class of these two syndromes. The clinical and molecular identification of these PWS and AS patients has important genetic counseling consequences. 49 refs., 4 figs., 3 tabs.« less

  8. [The Ehlers-Danlos syndrome: hystory of a clinical hendiadys].

    PubMed

    Brazzaventre, Cristina; Celletti, Claudia; Gobattoni, Paolo; Santilli, Valter; Camerota, Filippo

    2013-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility, which results in easy bruising and abnormal scarring. The condition shows a phenotypic variance from milder to serious presentations. Complaints related to activity (hypermobility, dislocations, impaired balance), to pain (general pain, headache, jaw and tooth pain) and to skin (bruises, fragility, impaired wound healing) are frequent. It was first noted by Hippocrates in 400 BC in his writing 'Airs Water and Places' that the nomads Scythians had lax joints and multiple scars. Whereas the additional flexibility can give benefits in term of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences. We recognize that it is important that, in those hypermobility patients, who develop potentially debilitating symptoms of chronicfatigue or widespread pain, there should be prompt an appropriate intervention.

  9. [Clinical features and comorbidities of Asperger syndrome in children].

    PubMed

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  10. The association between Type D personality and the metabolic syndrome: a cross-sectional study in a University-based outpatient lipid clinic

    PubMed Central

    2011-01-01

    Background Type D personality has been associated in the past with increased cardiovascular mortality among patients with established coronary heart disease. Very few studies have investigated the association of type D personality with traditional cardiovascular risk factors. In this study, we assessed the association between type D personality and the metabolic syndrome. Findings New consecutive patients referred to an outpatient lipid clinic for evaluation of possible metabolic syndrome were eligible for inclusion in the study. The metabolic syndrome was defined according to the International Diabetes Federation (IDF) diagnostic criteria. Type D personality was assessed with the DS-14 scale. Multivariate regression techniques were used to investigate the association between personality and metabolic syndromes adjusting for a number of medical and psychiatric confounders. Three hundred and fifty-nine persons were screened of whom 206 met the diagnostic criteria for the metabolic syndrome ("cases") and 153 did not ("control group"). The prevalence of type D personality was significantly higher in the cases as compared to the control group (44% versus 15% respectively, p < 0.001). In multivariate logistic regression analysis the presence of Type D personality was significantly associated with metabolic syndrome independently of other clinical factors, anxiety and depressive symptoms (odds ratio 3.47; 95% Confidence Interval: 1.90 - 6.33). Conclusions Type D personality was independently associated with the metabolic syndrome in this cross-sectional study. The potential implications of this finding, especially from a clinical or preventive perspective, should be examined in future research. PMID:21466680

  11. Case 3724 - Metochus abbreviatus Scott, 1874 (Insecta, Heteroptera): proposed precedence over Rhyparochromus erosus Walker, 1872 (currently Metochus erosus)

    USDA-ARS?s Scientific Manuscript database

    The purpose of this application, under Article 23.9.3 of the Code, is to conserve the widely used specific name Metochus abbreviatus Scott, 1874, for a species of rhyparochromid bugs from East Asia. The name is threatened by the senior subjective synonym Metochus erosus (Walker, 1872), which has bee...

  12. Cockayne syndrome: Clinical features, model systems and pathways

    PubMed Central

    Karikkineth, Ajoy C.; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L.; Bohr, Vilhelm A.

    2016-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1, 2 and 3) and complementation groups (CSA and CSB), and overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been considered to be due to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility of molecular interventions in CS, and by extrapolation, possibly in aging. PMID:27507608

  13. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings

    PubMed Central

    Liu, Tao; Wang, Ning

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS. PMID:27366194

  14. Clinical analysis of macrophage activation syndrome in pediatric patients with autoimmune diseases.

    PubMed

    Lin, Cheng-I; Yu, Hsin-Hui; Lee, Jyh-Hong; Wang, Li-Chieh; Lin, Yu-Tsan; Yang, Yao-Hsu; Chiang, Bor-Luen

    2012-08-01

    Macrophage activation syndrome (MAS) belongs to secondary hemophagocytic lymphohistiocytosis (HLH) syndrome. It is usually associated with rheumatic diseases. We retrospectively reviewed our hospital's medical records of 102 HLH/MAS patients from the past 20 years. Demographics, clinical data, treatment, and outcomes were analyzed. Among 102 patients, eight patients with underlying juvenile systemic lupus erythematous (two patients), mixed connective tissue disease (one patient), primary anti-phospholipid syndrome (one patient), and systemic type juvenile rheumatoid arthritis (sJRA; four patients) with 13 episodes of MAS were studied. Clinical manifestations of MAS included fever (100 %), hepatosplenomegaly (77 %), lymphadenopathy (38 %), skin rash (62 %), and neurological involvement (31 %). Laboratory features included leukopenia (54 %), anemia (46 %), thrombocytopenia (77 %), jaundice (27 %), hypofibrinogenemia (40 %), decreased erythrocyte sedimentation rate (67 %), and elevated liver enzymes (77 %), lactate dehydrogenase (100 %), ferritin (88 %), triglycerides (91 %), C-reactive protein (85 %), plasma D-dimer (50 %), and hemophagocytosis in bone marrow (83 %). The Epstein-Barr virus and adenovirus infection triggered MAS in two patients with sJRA. Methylprednisolone pulse therapy was effective in two out of three patients, and high-dose intravenous immunoglobulin (IVIG) was effective in two out of six patients. Patients with sJRA responded well to corticosteroids and cyclosporine. Complications included opportunistic infection with Pneumocystis jiroveci, multiple organ failure, and intensive care unit myopathy. The mortality rate was one out of eight (12.5 %). Our results showed that MAS could be fatal and complicate various pediatric autoimmune diseases. It generally has a good response to corticosteroids and IVIG. Prompt recognition and timely treatment can result in good outcomes.

  15. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.

    PubMed

    Zhang, Y; Yang, Y L; Sun, F; Cai, X; Qian, N; Yuan, Y; Wang, Z X; Qi, Y; Xiao, J X; Wang, X Y; Zhang, Y H; Jiang, Y W; Qin, J; Wu, X R

    2007-04-01

    Leigh syndrome is the most common mitochondrial disorder in children characterized by necrotic lesions in the central nervous system. Both mitochondrial DNA (mtDNA) and nuclear DNA defects in the mitochondrial respiratory chain can lead to this disease. To characterize the clinical and genetic traits of Leigh or Leigh-like syndrome patients in China, 124 unrelated cases were collected between 1992 and 2005. Seventy-seven cases (62.1%) met the typical criteria of Leigh syndrome, including symmetrical bilateral abnormal signals in the basal ganglia, thalamus and brain stem, etc. Other cases (37.9%) belonged to Leigh-like syndrome with atypical clinical or radiological manifestations. Late-onset patients accounted for 20.2%, which is more than previously reported. Movement disorder was the most common symptoms in our patients. Thirty-two patients (25.8%) were confirmed to carry mutant genes. Among them, six cases (4.8%) have been demonstrated to have point mutations in mitochondrial DNA. Two separate patients were detected to have mutations on A8344G and A3243G. The T8993G point mutation was identified in one patient and T8993C in one other patient. SURF1 mutations associated with cytochrome-c oxidase deficiency were identified in 25 patients (20.2%). Four unreported variations have been identified in SURF1 gene from three patients. G604C was found in 22 patients. Only one patient had C214T mutation in the pyruvate dehydrogenase E1alpha subunit gene. In the remaining 92 patients (74.2%), a specific molecular dysfunction or underlying metabolic abnormality could not be identified.

  16. Clinical application of arthroscopy in the diagnosis and treatment of anterior impingement syndrome of the ankle joint in physical workers.

    PubMed

    Wu, Wen-Te; Chen, Zhi-Wei; Zhou, Yu-Cheng

    2012-10-01

    To evaluate the clinical application of arthroscopy in the diagnosis and treatment of anterior impingement syndrome of the ankle joint in physical workers. A retrospective study was carried out at the Department of Orthopedics, the First Hospital affiliated to Nanhua University, Hengyang, China from March 2005 to December 2011. Seventeen cases of anterior impingement syndrome of the ankle joint were confirmed, and treated through arthroscopy. All these patients conformed to regular follow-up postoperatively, and clinical details, as well as postoperative prognosis were retrieved and analyzed retrospectively. The efficacy was evaluated by the American Orthopedic Foot and Ankle Society (AOFAS) hindfoot-ankle scoring system, and pain relief was assessed by visual analogue scoring (VAS). Anterolateral impingement syndrome was found in 11 patients, anteromedial impingement syndrome in 4, while anterior impingement syndrome in 2 via arthroscopic examination. The VAS was reduced from 5.2-1.1, and the AOFAS score was elevated from 76.4-95.8 postoperatively; both of which demonstrated statistical differences when compared to preoperative scores. It was also found that concomitant cartilage damage was an indicator of poor prognosis in arthroscopic treatment of impingement syndrome of the ankle joint. Satisfactory results could be achieved for physical workers with anterior impingement syndrome treated by arthroscopy. As the cartilage damage is an indicator of poor prognosis, an early operation is advocated when the prognosis of anterior impingement syndrome is confirmed.

  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. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

    PubMed Central

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-01-01

    Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

  19. Clinical and biochemical characteristics of polycystic ovary syndrome in Korean women.

    PubMed

    Chae, Soo Jin; Kim, Jin Ju; Choi, Young Min; Hwang, Kyu Ri; Jee, Byung Chul; Ku, Seung Yup; Suh, Chang Suk; Kim, Seok Hyun; Kim, Jung Gu; Moon, Shin Yong

    2008-08-01

    We investigated the differences in anthropometrical, hormonal and insulin resistance parameters according to the subtype of polycystic ovary syndrome (PCOS) in Korean women. We recruited 166 women with PCOS and retrospectively recruited 277 controls. PCOS was diagnosed by irregular menstruation (IM), polycystic ovary (PCO) and hyperandrogenism (HA). Subjects were divided into four subgroups: the IM/HA/PCO group (n = 87, 52.4%), the IM/PCO group (n = 52, 31.3%), the IM/HA group (n = 23, 13.9%) and the HA/PCO group (n = 4, 2.4%). Clinical and biochemical variables were compared among the PCOS subgroups. The IM/HA/PCO and IM/HA groups showed higher body mass index (P < 0.001) and waist-to-hip ratio (P < 0.001) than the IM/PCO group. The IM/HA group had higher triglyceride levels than the other groups (P < 0.001). Higher fasting insulin (P < 0.001) and postprandial 2 h insulin (P < 0.01) were noted in the IM/HA/PCO group and the IM/HA group, compared with the IM/PCO group. Women with PCOS showed lower sex hormone-binding globulin (P < 0.001) and higher systolic blood pressure (BP) (P = 0.004), diastolic BP (P = 0.001), fasting insulin (P < 0.001), postprandial 2 h insulin (P < 0.001), homeostatic model for insulin resistance (P < 0.001) and clinical and biochemical parameters of metabolic syndrome (P < 0.05) compared with subjects without PCOS. Women with PCOS without HA are common in Korea and are less likely to have metabolic dysfunction, insulin resistance and elevated BP. PCOS without HA may be a mild phenotype of PCOS. Therefore, women with PCOS in Korea could have a reduced likelihood of having metabolic syndrome compared with women of other ethnicities.

  20. Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

    PubMed

    Horesh, Nir; Pery, Ron; Amiel, Imri; Shwaartz, Chaya; Speter, Chen; Guranda, Larisa; Gutman, Mordechai; Hoffman, Aviad

    2015-11-01

    Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients. © 2015 Wiley Periodicals, Inc.

  1. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

    PubMed

    Farrer, L A; Arnos, K S; Asher, J H; Baldwin, C T; Diehl, S R; Friedman, T B; Greenberg, J; Grundfast, K M; Hoth, C; Lalwani, A K

    1994-10-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.

  2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

    PubMed Central

    2013-01-01

    Background Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. Methods We used whole-genome and whole-exome sequencing to interrogate the genomes of four subjects with an undiagnosed syndrome. Results Using genome-wide sequencing, we identified heterozygous, de novo truncating mutations in ASXL3, a transcriptional repressor related to ASXL1, in four unrelated probands. We found that these probands shared similar phenotypes, including severe feeding difficulties, failure to thrive, and neurologic abnormalities with significant developmental delay. Further, they showed less phenotypic overlap with patients who had de novo truncating mutations in ASXL1. Conclusion We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome. PMID:23383720

  3. Pathophysiology, prognostic significance and clinical utility of B-type natriuretic peptide in acute coronary syndromes.

    PubMed

    Wiviott, Stephen D; de Lemos, James A; Morrow, David A

    2004-08-16

    The natriuretic hormones are a family of vasoactive peptides that can be measured circulating in the blood. Because they serve as markers of hemodynamic stress, the major focus of the use of natriuretic peptide levels [predominantly B-type natriuretic peptide (BNP) and N-terminal (NT)-pro-BNP] has been as an aid to the clinical diagnosis and management of congestive heart failure (CHF). Recently, however, the measurement of natriuretic peptides in the acute coronary syndromes (ACS) has been shown to provide information complementary to traditional biomarkers (of necrosis) such as cardiac troponins and creatine kinase (CK). Studies in several types of acute coronary syndromes [ST-segment elevation myocardial infarction (STEMI), non-ST elevation MI (NSTEMI) and unstable angina (UA)] have shown that elevated levels of natriuretic peptides are independently associated with adverse outcomes, particularly mortality. Additional information is obtained from the use natriuretic peptides in combination with other markers of risk including biomarkers of necrosis and inflammation. This review will summarize the scientific rationale and clinical evidence supporting measurement of natriuretic peptides for risk stratification in acute coronary syndromes. Future research is needed to identify therapies of particular benefit for patients with ACS and natriuretic peptide elevation.

  4. [Asthma and metabolic syndrome: Clinical and pathogenetic relationships].

    PubMed

    Budnevsky, A V; Malysh, E Yu; Ovsyannikov, E S; Drobysheva, E S

    2015-01-01

    Asthma and metabolic syndrome (MS) are common and social diseases. External and internal factors influencing the development and manifestations of asthma are identified; among which there is obesity that is a major risk factor for MS. Accordingly, the concurrence of asthma and MS and to study their clinical and pathogenetic relationships are a topical problem. There is a tendency to identify a particular asthma phenotype that is characterized by later-onset disease in the presence of obesity; the low prevalence of atopy, low serum level of IgE, and a poorly-controlled course with a trend of standard therapy resistance. It is necessary to understand the essence of asthma cause-effect relationships in the presence of obesity for defining management tactics for this group of patients.

  5. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

    PubMed

    Oliveira, Priscila H A; Souza, Beatriz S; Pacheco, Eimi N; Menegazzo, Michele S; Corrêa, Ivan S; Zen, Paulo R G; Rosa, Rafael F M; Cesa, Claudia C; Pellanda, Lucia C; Vilela, Manuel A P

    2018-01-01

    Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  6. Documentation for the machine-readable version of the Fourth Cambridge Radio Survey Catalogue (4C) (Pilkington, Gower, Scott and Wills 1965, 1967)

    NASA Technical Reports Server (NTRS)

    Warren, W. H., Jr.

    1983-01-01

    The machine readable catalogue contains survey data from the papers of Pilkington and Scott and Gower, Scott and Wills. These data result from a survey of radio sources between declinations -07 deg and +80 deg using the large Cambridge interferometer at 178 MHz. The computerized catalog contains for each source the 4C number, 1950 position, measured flux density, and accuracy class. For some sources miscellaneous brief comments such as cross identifications to the 3C catalog or remarks on contamination from nearby sources are given at the ends of the data records. A detailed description of the machine readable catalog as it is currently being distributed by the Astronomical Data Center is given to enable users to read and process the data.

  7. Eligibility for clinical trials in primary Sjögren’s syndrome: lessons from the UK Primary Sjögren’s Syndrome Registry

    PubMed Central

    Oni, Clare; Mitchell, Sheryl; James, Katherine; Ng, Wan-Fai; Griffiths, Bridget; Hindmarsh, Victoria; Price, Elizabeth; Pease, Colin T.; Emery, Paul; Lanyon, Peter; Jones, Adrian; Bombardieri, Michele; Sutcliffe, Nurhan; Pitzalis, Costantino; Hunter, John; Gupta, Monica; McLaren, John; Cooper, Annie; Regan, Marian; Giles, Ian; Isenberg, David; Saravanan, Vadivelu; Coady, David; Dasgupta, Bhaskar; McHugh, Neil; Young-Min, Steven; Moots, Robert; Gendi, Nagui; Akil, Mohammed; Barone, Francesca; Fisher, Ben; Rauz, Saaeha; Richards, Andrea; Bowman, Simon J.

    2016-01-01

    Abstract Objective: To identify numbers of participants in the UK Primary Sjögren’s Syndrome Registry (UKPSSR) who would fulfil eligibility criteria for previous/current or potential clinical trials in primary SS (pSS) in order to optimize recruitment. Methods: We did a retrospective analysis of UKPSSR cohort data of 688 participants who had pSS with evaluable data. Results: In relation to previous/current trials, 75.2% fulfilled eligibility for the Belimumab in Subjects with Primary Sjögren’s Syndrome study (Belimumab), 41.4% fulfilled eligibility for the Trial of Remicade in primary Sjögren’s syndrome study (Infliximab), 35.4% for the Efficacy of Tocilizumab in Primary Sjögren’s Syndrome study (Tocilizumab), 46.3% for the Tolerance and Efficacy of Rituximab in Sjögren’s Disease study (Rituximab), 26.9% for the Trial of anti-B-cell therapy in pSS study (Rituximab) and 26.6% for the Efficacy and Safety of Abatacept in Patients With Primary Sjögren’s Syndrome study (Abatacept). If recent measures of outcome, such as the EULAR Sjögren’s Syndrome Patient Reported Index (ESSPRI) score ⩾5 (measure of patient symptoms) and the EULAR Sjögren’s Syndrome Disease Activity Index (ESSDAI) score ⩾5 (measure of systemic disease activity) are incorporated into a study design, with requirements for an unstimulated salivary flow >0 and anti-Ro positivity, then the pool of eligible participants is reduced to 14.3%. Conclusion: The UKPSSR identified a number of options for trial design, including selection on ESSDAI ⩾5, ESSPRI ⩾5 and serological and other parameters. PMID:26510429

  8. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

    PubMed Central

    PLAIASU, Vasilica; OCHIANA, Diana; MOTEI, Gabriela; ANCA, Ioana; GEORGESCU, Adrian

    2010-01-01

    ABSTRACT Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management. PMID:21977150

  9. Survival protein anoctamin-6 controls multiple platelet responses including phospholipid scrambling, swelling, and protein cleavage.

    PubMed

    Mattheij, Nadine J A; Braun, Attila; van Kruchten, Roger; Castoldi, Elisabetta; Pircher, Joachim; Baaten, Constance C F M J; Wülling, Manuela; Kuijpers, Marijke J E; Köhler, Ralf; Poole, Alastair W; Schreiber, Rainer; Vortkamp, Andrea; Collins, Peter W; Nieswandt, Bernhard; Kunzelmann, Karl; Cosemans, Judith M E M; Heemskerk, Johan W M

    2016-02-01

    Scott syndrome is a rare bleeding disorder, characterized by altered Ca(2+)-dependent platelet signaling with defective phosphatidylserine (PS) exposure and microparticle formation, and is linked to mutations in the ANO6 gene, encoding anoctamin (Ano)6. We investigated how the complex platelet phenotype of this syndrome is linked to defective expression of Anos or other ion channels. Mice were generated with heterozygous of homozygous deficiency in Ano6, Ano1, or Ca(2+)-dependent KCa3.1 Gardos channel. Platelets from these mice were extensively analyzed on molecular functions and compared with platelets from a patient with Scott syndrome. Deficiency in Ano1 or Gardos channel did not reduce platelet responses compared with control mice (P > 0.1). In 2 mouse strains, deficiency in Ano6 resulted in reduced viability with increased bleeding time to 28.6 min (control 6.4 min, P < 0.05). Platelets from the surviving Ano6-deficient mice resembled platelets from patients with Scott syndrome in: 1) normal collagen-induced aggregate formation (P > 0.05) with reduced PS exposure (-65 to 90%); 2) lowered Ca(2+)-dependent swelling (-80%) and membrane blebbing (-90%); 3) reduced calpain-dependent protein cleavage (-60%); and 4) moderately affected apoptosis-dependent PS exposure. In conclusion, mouse deficiency of Ano6 but not of other channels affects viability and phenocopies the complex changes in platelets from hemostatically impaired patients with Scott syndrome. © FASEB.

  10. Network Analysis Reveals Distinct Clinical Syndromes Underlying Acute Mountain Sickness

    PubMed Central

    Hall, David P.; MacCormick, Ian J. C.; Phythian-Adams, Alex T.; Rzechorzek, Nina M.; Hope-Jones, David; Cosens, Sorrel; Jackson, Stewart; Bates, Matthew G. D.; Collier, David J.; Hume, David A.; Freeman, Thomas; Thompson, A. A. Roger; Baillie, John Kenneth

    2014-01-01

    Acute mountain sickness (AMS) is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS), we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25). These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes. PMID:24465370

  11. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    PubMed

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. 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…

  13. F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation.

    PubMed

    Sun, Xiaochuan; Li, Chen; Cao, Yihan; Shi, Ximin; Li, Li; Zhang, Weihong; Wu, Xia; Wu, Nan; Jing, Hongli; Zhang, Wen

    2018-05-22

    Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016. Clinical manifestations and laboratory findings were recorded for all patients. Imaging data on 18F-FDG PET/CT and WBBS were collected and analyzed retrospectively. All the 26 patients (20 females and 6 males) exhibited skeletal abnormalities on 18 F-FDG PET/CT. Multiple skeletal lesions affecting the anterior chest wall or spine with low to moderate 18 F-FDG uptake and coexistence of osteolysis and osteosclerosis presented as the typical features of SAPHO syndrome. Sixteen (61.5%) patients had abnormal 18 F-FDG uptake outside the osteoarticular system. PET scan had moderate to substantial agreement with CT and WBBS in revealing lesions in the anterior chest wall and axial skeleton. Nonetheless, the correlation between increased 18 F-FDG uptake and clinical symptoms was weak. SAPHO syndrome exhibits characteristic features on 18 F-FDG PET/CT. It showed comparable capacity in revealing skeletal lesions with bone scintigraphy.

  14. Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

    PubMed

    Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

    2008-06-01

    The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults.

  15. Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome

    PubMed Central

    Föger, Kathrin; Gora-Stahlberg, Gina; Sejvar, James; Ovuga, Emilio; Jilek-Aall, Louise; Schmutzhard, Erich

    2017-01-01

    Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder. PMID:28182652

  16. California State Waters map series—Offshore of Scott Creek, California

    USGS Publications Warehouse

    Cochrane, Guy R.; Dartnell, Peter; Johnson, Samuel Y.; Greene, H. Gary; Erdey, Mercedes D.; Dieter, Bryan E.; Golden, Nadine E.; Endris, Charles A.; Hartwell, Stephen R.; Kvitek, Rikk G.; Davenport, Clifton W.; Watt, Janet T.; Krigsman, Lisa M.; Ritchie, Andrew C.; Sliter, Ray W.; Finlayson, David P.; Maier, Katherine L.; Cochrane, Guy R.; Cochran, Susan A.

    2015-11-16

    Seafloor habitats in the Offshore of Scott Creek map area, which lie within the Shelf (continental shelf) megahabitat, range from significant rocky outcrops that support kelp-forest communities nearshore to rocky-reef communities in deeper water. Biological productivity resulting from coastal upwelling supports populations of Sooty Shearwater, Western Gull, Common Murre, Cassin’s Auklet, and many other less populous bird species. In addition, an observable recovery of Humpback and Blue Whales has occurred in the area; both species are dependent on coastal upwelling to provide nutrients. The large extent of exposed inner shelf bedrock supports large forests of “bull kelp,” which is well adapted for high-wave-energy environments. The kelp beds are the northernmost known habitat for the population of southern sea otters. Common fish species found in the kelp beds and rocky reefs include lingcod and various species of rockfish and greenling.

  17. Clinical classification of 103 Japanese patients with Guillain-Barré syndrome.

    PubMed

    Wakerley, Benjamin R; Kokubun, N; Funakoshi, K; Nagashima, T; Hirata, K; Yuki, N

    2016-10-15

    Guillain-Barré syndrome (GBS) is the commonest cause of flaccid paralysis worldwide. Miller Fisher syndrome (MFS) is a variant of GBS characterized by ophthalmoplegia and ataxia. Together GBS and MFS form a continuum of discrete and overlapping subtypes, the frequency of which remains unknown. We retrospectively analysed the clinical features (antecedent symptoms, pattern of neurological weakness or ataxia, presence of hypersomnolence) of 103 patients at a single hospital in Japan. Patients were then classified according to new diagnostic criteria (Wakerley et al., 2014). Laboratory data (neurophysiology and anti-ganglioside antibody profiles) were also analysed. According to the new diagnostic criteria, the 103 patients could be classified as follows: classic GBS 73 (71%), pharyngeal-cervical-brachial weakness 2 (2%), acute pharyngeal weakness 0 (0%), paraparetic GBS 1 (1%), bifacial weakness with paraesthesias 1 (1%), polyneuritis cranialis 0 (0%), classic MFS 18 (17%), acute ophthalmoparesis 1 (1%), acute ptosis 0 (0%), acute mydriasis 0 (0%), acute ataxic neuropathy 1 (1%), Bickerstaff brainstem encephalitis 3 (3%), acute ataxic hypersomnolence 0 (0%), GBS and MFS overlap 1 (1%), GBS and Bickerstaff brainstem encephalitis overlap 1 (1%), MFS and pharyngeal-cervical-brachial weakness overlap 1 (1%). Application of the new clinical diagnostic criteria allowed accurate retrospective diagnosis and classification of GBS and MFS subtypes. Copyright © 2016. Published by Elsevier B.V.

  18. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    PubMed

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  19. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

    PubMed

    Castori, Marco

    2015-12-01

    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

  20. The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.

    PubMed

    Mujahid, Safa; Hunt, Katharine F; Cheah, Yee S; Forsythe, Elizabeth; Hazlehurst, Jonathan M; Sparks, Kathryn; Mohammed, Shehla; Tomlinson, Jeremy W; Amiel, Stephanie A; Carroll, Paul V; Beales, Phillip L; Huda, Mohammed S B; McGowan, Barbara M

    2018-05-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. We describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects. We performed a case-control study. This study was performed at a hospital clinic. Study patients had a clinical or genetic diagnosis of BBS. Our study determined the prevalence of a metabolic syndrome in our cohort. A total of 152 subjects were studied. Eighty-four (55.3%) were male. Mean (± standard deviation) age was 33.2 ± 1.0 years. Compared with age-, sex-, and body mass index-matched control subjects, fasting glucose and insulin levels were significantly higher in subjects with BBS (glucose: BBS, 5.2 ± 1.2 mmol/L vs control, 4.9 ± 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 ± 17.0 pmol/L vs control, 14.2 ± 14.8 pmol/L, P < 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 ± 1.2 mmol/L) compared with control subjects (1.3 ± 0.8 mmol/L; P < 0.001), but total cholesterol, high-density lipoprotein, and low-density lipoprotein were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS, 135 ± 18 mm Hg vs control subjects, 129 ± 16 mm Hg; P = 0.02). Alanine transaminase was raised in 34 (26.8%) subjects with BBS, compared with five (8.9%) control subjects (P = 0.01). The rate of metabolic syndrome, determined using International Diabetes Federation criteria, was significantly higher in the BBS group (54.3%) compared with control subjects (26% P < 0.001). Twenty-six (19.5%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 ± 5.3 mmol/L), but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24 of 125 (19.4%) patients with BBS, compared with 3 of 65 (4.6%) control subjects (P = 0.01). Insulin resistance and the metabolic syndrome are increased in adult patients with BBS compared with

  1. The clinical characteristics and therapy of syndrome of craniocerebral-cervical vertebral injury.

    PubMed

    Liu, Sheng; Liu, Yuan-xin; Wang, Cheng

    2005-06-01

    To explore the clinical characteristics and new treatment for syndrome of craniocerebral-cervical vertebral injury. The clinical data of 52 patients with head injury accompanied by neck injury were analyzed retrospectively. Craniocerebral injury could result in damage to cervical vertebrae, muscles, vessels and nerves, and even cause vertebral artery injury, which may lead to insufficient blood-supply of vertebral-basal artery. All patients were treated with cervical vertebral traction and the results were good. Acute craniocerebral injury with symptom of insufficient blood-supply of vertebral-basal artery, evident neurosis and atlas-axis half-dislocation in X-ray should be treated by cervical vertebral traction, which will yield better outcome.

  2. Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

    PubMed

    Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

    2015-01-01

    DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

  3. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    PubMed Central

    Oliveira, Priscila H. A.; Souza, Beatriz S.; Pacheco, Eimi N.; Menegazzo, Michele S.; Corrêa, Ivan S.; Zen, Paulo R. G.; Rosa, Rafael F. M.; Cesa, Claudia C.; Pellanda, Lucia C.; Vilela, Manuel A. P.

    2018-01-01

    Background Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance. PMID:29538527

  4. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

    PubMed Central

    Kumar, S; Deffenbacher, K; Marres, H A; Cremers, C W; Kimberling, W J

    2000-01-01

    Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing loss but without renal anomalies, a condition called "branchio-otic" (BO) syndrome. It is logical to question whether the BOR and BO syndromes are allelic or whether they represent distinct genetic entities. We identified a very large extended family whose members had branchial and hearing anomalies associated with commissural lip pits that segregated in an autosomal dominant fashion. Using a genomewide search strategy, we identified genetic linkage, with a maximum LOD score of 4.81 at recombination fraction 0, between the BO phenotype and polymorphic marker D1S2757 in the genetic region of chromosome 1q31. This is the first report of linkage for a second gene associated with BOR syndrome. The findings have important clinical implications and will provide insight into the genetic basis of BOR syndrome. PMID:10762556

  5. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

    PubMed

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-04-01

    The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

  6. Fat embolism syndrome: Clinical and imaging considerations: Case report and review of literature

    PubMed Central

    Shaikh, Nissar; Parchani, Ashok; Bhat, Venkatraman; Kattren, Marie Anne

    2008-01-01

    Fat embolism syndrome (FES) is a serious clinical disorder occurring after trauma, orthopedic procedures and rarely in non-traumatic patients. Fat emboli develop in nearly all patients with bone fractures, but they are usually asymptomatic. Small number of patients develop signs and symptoms of various organ system dysfunction due to either mechanical obstruction of capillaries by fat emboli or due to hydrolysis of fat to fatty acids. A triad of lung, brain and skin involvement develop after an asymptomatic period of 24 to 72 hours. This symptom complex is called FES. The incidence reported is up to 30%, but many mild cases may recover unnoticed. Diagnosis of fat embolism is clinical with nonspecific, insensitive diagnostic test results. Treatment of fat embolism syndrome remains supportive and in most cases can be prevented by early fixation of large bone factures. Here we report two cases of traumatic fat embolism, which were diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearance on magnetic resonance imaging (MRI) of the brain in these patients. These patients were successfully treated with supportive management. In conclusion, diagnosis of FES needs high index of suspicion, exclusion of other conditions and use of clinical criteria in combination with imaging. Magnetic resonance imaging of the brain is of great importance in diagnosis and management of these patients. PMID:19826589

  7. 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.

  8. Posterior reversible encephalopathy syndrome in liver transplant patients: clinical presentation, risk factors and initial management.

    PubMed

    Cruz, R J; DiMartini, A; Akhavanheidari, M; Iacovoni, N; Boardman, J F; Donaldson, J; Humar, A; Bartynski, W S

    2012-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an uncommon but well-known complication after transplantation diagnosed by characteristic radiological features. As limited data on this complex syndrome exist we sought to better define the incidence, clinical presentation and risk factors for PRES in liver transplant (LTx) patients. We conducted a retrospective analysis of 1923 adult LTx recipients transplanted between 2000 and 2010. PRES was diagnosed radiologically in 19 patients (1%), with 84% of cases occurring within 3 months post-LTX. We compared this cohort of PRES patients to 316 other LTx recipients also requiring radiographic imaging within 3 months after LTx for neurological symptoms. Seizure was the most common clinical manifestation in the PRES group (88% vs. 16%, p< 0.001) and 31% had an intracranial hemorrhage. Those with hemorrhage on imaging were more likely to be coagulopathic. PRES patients were significantly more likely to have had alcoholic liver disease and infection/sepsis. These factors may be related to a common pathway of vascular dysregulation/damage that appears to characterize this complex syndrome. Intracranial bleeding and seizures may be the end result of these phenomena. The relationship of these associated factors to the hypothesized pathophysiology of PRES is discussed. © Copyright 2012 The American Society of Transplantation and the American Society of Transplant Surgeons.

  9. FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon Syndrome

    PubMed Central

    Lin, Ying; Liang, Xuanwei; Ai, Siming; Chen, Chuan; Liu, Xialin; Luo, Lixia; Ye, Shaobi; Li, Baoxin; Yang, Huasheng

    2012-01-01

    Purpose The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features. Methods One family underwent complete ophthalmic examinations, and two patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from the family and 100 unrelated control subjects from the same population. Exons 8 and 10 of FGFR2 were amplified by polymerase chain reaction (PCR) and directly sequenced. We performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, Pentacam, Goldmann perimetry, and computed tomography (CT) of the skull. Results The two patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, and clinically normal hands and feet. A heterozygous FGFR2 missense mutation c.866A>C (Gln289Pro) in exon 8 was identified in the affected individuals, but not in any of the unaffected family members and the normal controls. Conclusions Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome. PMID:22355256

  10. Partners in Excellence: Development of the Temple College Clinical Simulation Center

    ERIC Educational Resources Information Center

    Coker, Neil

    2006-01-01

    Temple College (TC) is a comprehensive community college located in Temple, Texas. Temple also is home to Scott & White Hospital, Central Texas Veterans Health Care System, King's Daughters Hospital, and Texas A&M University College of Medicine's clinical campus. In the summer of 2001, TC's health-sciences programs were scattered across…

  11. A Review of Differences in Clinical Characteristics between Tardive Syndrome Induced or Improved by Aripiprazole Treatment.

    PubMed

    Chen, Yen-Wen; Tseng, Ping-Tao

    2016-09-15

    Tardive syndrome is a troublesome complication secondary to the long-term usage of antipsychotic medication. At present, there is a lack of effective treatment for tardive syndrome. Aripiprazole has been used in the treatment of tardive syndrome, with some reports of a good response. However, other reports have suggested that tardive syndrome can actually be induced by aripiprazole. The aim of current study was to investigate whether aripiprazole is beneficial or harmful for the treatment of tardive syndrome in specific patients. We performed a thorough literature search via PubMed. We included all of the studies discussing the relationship between tardive syndrome and aripiprazole, either with regards to "inducing" or "improving" the disease. None of the included studies were well-designed clinical trials, and all were case reports or case series. A total of 26 articles were included in which aripiprazole induced tardive syndrome, and another 24 in which tardive syndrome was improved by aripiprazole treatment. In the "improved" group, there were significantly more cases of schizophrenia than in the "induced" group (p=0.002). However, there were significantly more cases with other miscellaneous diagnoses in the "induced" group than in the "improved" group (p=0.003). In addition, the cases in the "induced" group had a significantly longer duration of aripiprazole usage than those in the "improved" group (p=0.001). Current study is important for clinicians to pay attention to the risk of tardive syndrome when prescribing aripiprazole in patients with a diagnosis other than a psychiatric illness or in the long-term administration of aripiprazole.

  12. [Etiopathogenetic and clinical notes on the syndrome of the micropolycystic hyperandrogenic ovary and matrimonial sterility].

    PubMed

    Giarola, A; Rolandi, L

    1977-01-14

    The nosological, clinical, aetiopathogenetic and therapeutic aspects of hyperandrogenic micropolycystic ovary are examined with particular reference to matrimonial sterility. There is not doubt about the existence of a syndrome substantially characterized, clinically, by menstrual trouble, inability to procreate, more or less evident signs of hyperandrogenism and a tendency to obesity and, morphologically, by ovarian micropolycystic alterations of typical pathognomonic aspect: the marked production of androgens on the part of the female gonad possibly accompanied by peripheral alterations interfering with their metabolism. The syndrome is not too frequent and, in personal experience, occurs in less than 1% of the series. The main therapeutic approach remains cuneiform resection of the ovary. Still in personal experience, 21.2% of cases treated led to pregnancy but not more than eight-ten months after operation. The effect would therefore appear to be transitory and the operation is decisively rejected where unmarried women are involved.

  13. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

    PubMed

    Naves, Luciana A; Daly, Adrian F; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Júnior, Armindo Jreige; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S; Stratakis, Constantine A; Lupski, James R; Beckers, Albert

    2016-02-01

    X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

  14. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

    PubMed Central

    Naves, Luciana A.; Daly, Adrian F.; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Jreige, Armindo; Neto, Florêncio Figueiredo Cavalcante; Liu, Pengfei; Pellegata, Natalia S.; Stratakis, Constantine A.; Lupski, James R.

    2017-01-01

    X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome. PMID:26607152

  15. Clinical characteristics of obesity-hypoventilation syndrome in Japan: a multi-center study.

    PubMed

    Akashiba, Tsuneto; Akahoshi, Toshiki; Kawahara, Seiji; Uematsu, Akihito; Katsura, Kazuhito; Sakurai, Shigeru; Murata, Akira; Sakakibara, Hiroki; Chin, Kazuo; Hida, Wataru; Nakamura, Hiroshi

    2006-01-01

    To clarify the prevalence and clinical characteristics of obesity-hypoventilation syndrome (OHS) in a large number of patients with moderate to severe obstructive sleep apnea syndrome (OSAS). Subjects comprised 611 patients with OSAS registered from 7 sleep centers and clinics and analyzed according to the definitions of the Respiratory Failure Research Group of the Japanese Ministry of Health and Welfare. Baseline characteristics, polysomnographic data during sleep, laboratory blood examinations, excessive daytime sleepiness, pulmonary functions, and arterial blood gases were compared between OHS and non-OHS patients. Determinants of daytime hypercapnia were also examined in OHS patients. OHS was identified in 55 of the 611 patients with OSAS (9%). OHS patients were younger, heavier, and more somnolent than non-OHS patients and displayed more severe OSAS, liver dysfunctions, higher total cholesterol, and impaired pulmonary function. However, these differences were resolved except for pulmonary function after correction for obesity. Daytime hypercapnia was associated with impaired pulmonary function. Percent vital capacity (%VC) was most closely correlated with PaCO2 in OHS. OHS patients display numerous abnormalities due to obesity compared with non-OHS patients. Impaired pulmonary function, particularly %VC, may play an important role in the development of daytime hypercapnia independent of obesity in OHS patients.

  16. Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.

    PubMed

    Eroglu, Fehime Kara; Kasapcopur, Ozgür; Beşbaş, Nesrin; Ozaltin, Fatih; Bilginer, Yelda; Barut, Kenan; Mensa-Vilaro, Anna; Nakagawa, Kenji; Heike, Toshio; Nishikomori, Ryuta; Arostegui, Juan; Ozen, Seza

    2016-01-01

    The aim of this study was to present the genetic and clinical data of the largest cohort of Turkish cryopyrin-associated periodic syndromes (CAPS) patients. This is a two-centre descriptive study of Turkish children with clinical diagnosis of CAPS. NLRP3 analyses were performed by Sanger sequencing and by massively parallel sequencing. ASC dependent NF-κB activation and transfection-induced THP-1 cell death assays determined the functional consequences of the detected variants. Disease activity and response to anti interleukin 1 (anti-IL-1) treatment was also assessed. Heterozygous germline NLRP3 mutation was detected in 8 of 14 enrolled patients (57.1%). Two novel somatic mutations Y560H and G307D were found which induced both THP-1 cell death and ASC dependent NF-kB activation. With anti-IL-1 treatment the disease activity was improved in all patients except one. Except two patients with macrophage activation syndrome (MAS) attack, there were no serious adverse events requiring hospitalisation. CAPS should be considered in all patients with typical symptoms even if Sanger-based genetic analysis is negative, since a considerable number of patients have mosaicism. Treatment should be patient-tailored and MAS should be considered as a rare complication.

  17. Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

    PubMed

    Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

    2015-10-01

    Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

  18. Clinical features of the exploding head syndrome.

    PubMed

    Pearce, J M

    1989-07-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated.

  19. [Clinical presentation of different severities of hemorrhagic fever with renal syndrome: how to recognise it].

    PubMed

    Lausević, Mirjana; Lausević, Zeljko; Stojimirović, Biljana

    2012-07-01

    Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. A total of 30 patients (27 men and 3 women), average age 40 +/- 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30%) had mild, 14 (46.7%) moderate and 7 (23.3%) severe form of the disease; 24 (800%) recovered, 6 (20%) died in the acute phase of the illness, and 19 patients (63.3%) required hemodialysis. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables' combinations associated with clinical presentation of the disease. Our study confirmed that we can distinguish patients who will manifest different severities of the disease on the basis of careful

  20. Congenital rubella syndrome in a child born to Liberian refugees: clinical and public health perspectives.

    PubMed

    Plotinsky, Rachel N; Talbot, Elizabeth A; Kellenberg, Joan E; Reef, Susan E; Buseman, Sandra K; Wright, Karen D; Modlin, John F

    2007-05-01

    We describe a case of congenital rubella syndrome with typical stigmata in an infant born in New Hampshire to Liberian refugees. The infant's clinical specimens were tested for rubella. Rubella immunity status was sought for contacts. The infant's specimen cultures grew wild-type rubella virus; serum immunoglobulin M and G were positive. Eighteen of 20 contacts were rubella-immune. Family's transit history, mother's vaccination history, and infant's estimated gestational age supported congenital infection acquired overseas. Clinicians should maintain vigilance for congenital rubella syndrome in infants with relevant stigmata, particularly those whose mothers are from countries with nonexistent or recently implemented rubella vaccination programs.