4 research outputs found
Iron Behaving Badly: Inappropriate Iron Chelation as a Major Contributor to the Aetiology of Vascular and Other Progressive Inflammatory and Degenerative Diseases
- Author
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- The Long-Term Intervention with Pravastatin in Ischaemic Disease (LIPID) Study Group
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- ZZ Chong
- Publication venue
- Publication date
- 09/08/2008
- Field of study
The production of peroxide and superoxide is an inevitable consequence of
aerobic metabolism, and while these particular "reactive oxygen species" (ROSs)
can exhibit a number of biological effects, they are not of themselves
excessively reactive and thus they are not especially damaging at physiological
concentrations. However, their reactions with poorly liganded iron species can
lead to the catalytic production of the very reactive and dangerous hydroxyl
radical, which is exceptionally damaging, and a major cause of chronic
inflammation. We review the considerable and wide-ranging evidence for the
involvement of this combination of (su)peroxide and poorly liganded iron in a
large number of physiological and indeed pathological processes and
inflammatory disorders, especially those involving the progressive degradation
of cellular and organismal performance. These diseases share a great many
similarities and thus might be considered to have a common cause (i.e.
iron-catalysed free radical and especially hydroxyl radical generation). The
studies reviewed include those focused on a series of cardiovascular, metabolic
and neurological diseases, where iron can be found at the sites of plaques and
lesions, as well as studies showing the significance of iron to aging and
longevity. The effective chelation of iron by natural or synthetic ligands is
thus of major physiological (and potentially therapeutic) importance. As
systems properties, we need to recognise that physiological observables have
multiple molecular causes, and studying them in isolation leads to inconsistent
patterns of apparent causality when it is the simultaneous combination of
multiple factors that is responsible. This explains, for instance, the
decidedly mixed effects of antioxidants that have been observed, etc...Comment: 159 pages, including 9 Figs and 2184 reference
Solvent‐ and Catalyst‐Free Selective Mannich Reaction on Catechols and Para
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
- Author
- Abela L
- Allain MW
- Applegate CD
- Attaripour Isfahani S
- Baleine J
- Balint B
- Baple EL
- Barwick KE
- Bassetti JA
- Bastaraud SC
- Bhatia KP
- Blanchet C
- Burglen L
- Cambonie G
- Chong WK
- Cif L
- Coubes C
- Coubes P
- Cyprien F
- d'Hardemare V
- Dale RC
- de Gusmão CM
- de Vries BBA
- Deciphering Developmental Disorders Study
- Demailly D
- Doja A
- Dorison N
- Doummar D
- Dy-Hollins ME
- Farrelly E
- Fearon C
- Fieg EL
- Fitzpatrick DR
- Fogel BL
- Forman EB
- Fox RG
- François LL
- Friedman J
- Fung VSC
- Gahl WA
- Galosi S
- Genomics England Research Consortium
- Gonzalez V
- Gorman KM
- Graves TD
- Gregory A
- Hallett M
- Hamosh A
- Hasegawa H
- Hayflick SJ
- Hully M
- Jansen S
- Jeong SY
- King MD
- Krier JB
- Krystal S
- Kumar KR
- Kurian MA
- Laurencin C
- Lee H
- Lesca G
- Lin J-P
- Lynch T
- Mahant N
- Malhotra S
- Martinez-Agosto JA
- Meyer E
- Milesi C
- Mills KA
- Mohammad SS
- Mondain M
- Morales-Briceno H
- Ngoh A
- NIHR BioResource
- Ostergaard JR
- Pal S
- Pallais JC
- Pavillard F
- Perrigault P-F
- Petersen AK
- Polo G
- Poulen G
- Rankin J
- Raymond FL
- Rinne T
- Rogers C
- Rohena L
- Roubertie A
- Roujeau T
- Sa M
- Sahagian M
- Sanchis-Juan A
- Schaefer E
- Selim L
- Selway R
- Seng EC
- Sharma N
- Signer R
- Soldatos AG
- Steel D
- Stevenson DA
- Stewart F
- Tchan M
- Topf M
- Toro C
- Trump N
- Undiagnosed Diseases Network
- Vasques X
- Verma IC
- Waugh JL
- Wilson JL
- Wong DA
- Zaitoun R
- Zhen D
- Znaczko A
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2020
- Field of study
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5–37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden’s Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, >50% of subjects showed BFMDRS-M and BFMDRS-D improvements of >30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n = 8), improvement of >30% was maintained in 5/8 and 3/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution
Descriptive epidemiology of 30,223 histopathologically confirmed meningiomas in France: 2006–2015
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- Rougier A.
- Roujeau T.
- Rouquette I.
- Rousseau A.
- Rousseaux P.
- Rousselet M. C.
- Rousselot C.
- Roux F.
- Roux F. X.
- Rue M.
- Sabatier J.
- Sabatier P.
- Sabbah M.
- Sabourin J. C.
- Sacko O.
- Saguet V.
- Saint-Paul M. C.
- Sainte-Rose C.
- Sakka L.
- Salaud C.
- Salle H.
- Salmon B.
- Salon C.
- Sam L.
- Samaison l.
- Samaison L.
- Sankaredja J. M.
- Sautreaux J. L.
- Sauvaget F.
- Sauvaget F.
- Savin C.
- Saïkali S.
- Scarone P.
- Scavarda D.
- Scherpereel B.
- Schmidt E.
- Segnarbieux F.
- Seigneuret E.
- Seizeur R.
- Selek L.
- Selves J.
- Seng E. Chan
- Seurat P.
- Sevestre H.
- Sichez J. P.
- Sierra D. Guerra
- Signorelli F.
- Silhouette B.
- Simon A.
- Simon E.
- Simonneau A.
- Sinardet D.
- Sindou M.
- Singeorzan C.
- Sleiman M.
- Sol J. C.
- Sorbara R.
- Sorbets S. Ferrand
- Soulard R.
- Soumare O.
- Souraud J. B.
- Srour A.
- Srour R.
- Staquet H.
- Stecken J.
- Stella I.
- Sterkers O.
- Stilhart B.
- Straub P. Sto
- Streichenberger N.
- Sturm N.
- Szablewski V.
- Szathmari A.
- Taha S.
- Taillandier Luc
- Tal M.
- Talagas M.
- Talagas M.
- Taris M.
- Taris M.
- Tauziede-Espariat A.
- Tazi S.
- Ternier J.
- Testa O.
- Tetard M. C.
- Theret E.
- Thi N.
- Thiebaut J. B.
- Thines L.
- Thomas C.
- Thomassin J. M.
- Tigan L.
- Timofeev A.
- Todeschi J.
- Tonnelle V.
- Toquet C.
- Tortel M. C.
- Toubeau G.
- Tourneux H.
- Tournier E.
- Toussaint P.
- Touta A.
- Travers N.
- Tremoulet M.
- Trétarre Brigitte
- Turak B.
- Uro-Coste E.
- Vallee B.
- Vally P.
- Van Effenterre R.
- Van Raay Y.
- Vandenbos F.
- Vaneecloo F.M.
- Varlet P.
- Vasiljevic A.
- Vassal F.
- Vassal M.
- Velut S.
- Veresezan L.
- Verhulst A.
- Verhulst P.
- Vidal J.
- Viennet G.
- Vignaud J. M.
- Vignes J. R.
- Vigouroux C.
- Villa C.
- Villette L.
- Vincent P.
- Vinchon M.
- Vinikoff L.
- Vital A.
- Voirin J.
- Von Bunau F. Hansen
- Wager M.
- Warter A.
- Wassef M.
- Weinbreck N.
- Yacoub M.
- Yordanova Y.
- Zachar D.
- Zaïri F.
- Zemmoura Ilyess
- Zerah M.
- Ziyadeh J.
- Zolo D. Memia
- Zouaoui Sonia
- Publication venue
- Publication date
- 14/05/2024
- Field of study