Bibliographies thématiques / Syndrome d’Usher de type 3

Littérature scientifique sur le sujet « Syndrome d’Usher de type 3 »

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Publié le 25 mai 2024

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Articles de revues sur le sujet "Syndrome d’Usher de type 3"

Shah, BelaJ, AshishK Jagati, NileshK Katrodiya et SonalM Patel. « Griscelli syndrome type-3 ». Indian Dermatology Online Journal 7, n^o 6 (2016) : 506. http://dx.doi.org/10.4103/2229-5178.193910.

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Gazizova, G. R., M. R. Shaydullina, F. V. Valeeva et A. I. Galieva. « Autoimmune polyglandular syndrome type 3 ». Medical Herald of the South of Russia 11, n^o 4 (20 décembre 2020) : 78–83. http://dx.doi.org/10.21886/2219-8075-2020-11-4-78-83.

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Autoimmune polyglandular syndrome type 3 (APS type 3) is a combination of autoimmune thyroid damage in combination with one or more autoimmune endocrine or non-endocrine diseases. It is represented by three subtypes: APS 3A (graves ‘ Disease, or Hashimoto’s thyroiditis and type 1 diabetes mellitus), APS 3B (autoimmune thyroid disease and pernicious anemia), APS 3C (autoimmune thyroid disease and vitiligo, alopecia, and/or other organ-specific autoimmune diseases). Clinical observations of patients with type 3 APS are presented: characteristic clinical syndromes and clinical and laboratory characteristics of patients. These clinical examples demonstrate the importance of thorough examination, alertness and knowledge of endocrinologists about the possibility of developing polyglandular lesions of the endocrine system, the importance of timely prescribed treatment and interdisciplinary interaction of doctors.

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Dhankar, Neha, Isha Gupta, Surabhi Dayal et Sonia Chhabra. « Griscelli syndrome type 3 in siblings ». International Journal of Trichology 14, n^o 1 (2022) : 38. http://dx.doi.org/10.4103/ijt.ijt_42_20.

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Pakarinen, L., S. Karjalainen, K. O. J. Simola, P. Laippala et H. Kaitalo. « Usher's syndrome type 3 in Finland ». Laryngoscope 105, n^o 6 (juin 1995) : 613–17. http://dx.doi.org/10.1288/00005537-199506000-00010.

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Ruan, Yanfei, Nian Liu, Rong Bai, Silvia G. Priori et Carlo Napolitano. « Congenital Long QT Syndrome Type 3 ». Cardiac Electrophysiology Clinics 6, n^o 4 (décembre 2014) : 705–13. http://dx.doi.org/10.1016/j.ccep.2014.07.007.

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Kahara, Toshio, Hitomi Wakakuri, Juri Takatsuji, Iori Motoo, Kosuke R. Shima, Kazuhide Ishikura, Rika Usuda et Yatsugi Noda. « Autoimmune Polyglandular Syndrome Type 3 with Anorexia ». Case Reports in Endocrinology 2012 (2012) : 1–4. http://dx.doi.org/10.1155/2012/657156.

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A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12 kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV > 100 fL).

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Durongpisitkul, K., et Vymutt J. Gururaj. « Parainfluenza virus type 3 and pertussis syndrome ». Indian Journal of Pediatrics 60, n^o 1 (janvier 1993) : 139–42. http://dx.doi.org/10.1007/bf02860523.

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Kerr, Natalie C., R. Sid Wilroy et Robert A. Kaufman. « Type 3 Pfeiffer syndrome with normal thumbs ». American Journal of Medical Genetics 66, n^o 2 (11 décembre 1996) : 138–43. http://dx.doi.org/10.1002/(sici)1096-8628(19961211)66:2<138 ::aid-ajmg3>3.0.co;2-n.

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Kaplan, Paige, et Leonhard S. Wolfe. « Sanfilippo syndrome type D ». Journal of Pediatrics 110, n^o 2 (février 1987) : 267–71. http://dx.doi.org/10.1016/s0022-3476(87)80171-3.

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Kim, Ungsoo Samuel, Joon H. Lee et Seung-Hee Baek. « Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome ». Graefe's Archive for Clinical and Experimental Ophthalmology 251, n^o 5 (10 août 2012) : 1445–46. http://dx.doi.org/10.1007/s00417-012-2122-5.

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Thèses sur le sujet "Syndrome d’Usher de type 3"

Wentling, Maureen. « Characterization of the disease mechanisms underlying clarin-mediated progressive hearing loss ». Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS386.pdf.

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Malgré la forte prévalence de la déficience auditive, les mécanismes sous-jacents de la perte auditive progressive restent inconnus. Notre laboratoire a étudié le(s) rôle(s) de la clarine-1, responsable du syndrome d'Usher de type III, qui entraîne une perte auditive progressive, et de la clarine-2, responsable de la surdité non syndromique, dans le système auditif. En raison de la variabilité phénotypique chez les patients atteints du syndrome d'Usher de type III, même parmi les patients présentant les mêmes mutations génétiques, nous avons émis l'hypothèse qu'il pourrait y avoir une redondance fonctionnelle entre les deux clarines. Nous avons donc généré des souris knock-out totales et conditionnelles (Bhlhb5-cre et Myo15-cre) pour la clarine-1/clarine-2. En utilisant une approche multidisciplinaire, intégrant des études omiques et électrophysiologiques avec une imagerie à haute résolution dans le temps, j'ai identifié les voies moléculaires clés dérégulées en l'absence de clarine-1 et clarine-2 dans les cellules ciliées auditives et les neurones auditifs primaires. L'analyse phénotypique des souris Clrn1-/-Clrn2-/- a révélé une surdité profonde dès l'apparition de l'audition. Les enregistrements de courant de transduction mécano-électrique (MET) étaient absents chez les souris Clrn1-/-Clrn2-/-, mais seulement réduits chez les souris Clrn1-/- et Clrn2-/-. Ces résultats démontrent un rôle fonctionnel compensatoire de la clarine-1 et de la clarine-2 au niveau de la touffe ciliaire. J'ai également observé des anomalies de l'homéostasie ionique, nécessaires au fonctionnement normal de la MET et à la transmission synaptique, qui étaient plus graves chez les souris Clrn1-/-Clrn2-/- que chez les souris Clrn1-/- et Clrn2-/-. Ces changements ioniques s'accompagnent de troubles pré- et postérieurs à l'apparition de la maladie. Pour valider l'hypothèse selon laquelle le(s) rôle(s) principal(aux) de la clarine-1 et de la clarine-2 se situe(nt) dans les cellules ciliées, j'ai étudié des souris chez lesquelles la clarine-1 et la clarine-2 ont été inactivées de manière spécifique dans les cellules ciliées (Myo15-cre). Ces souris knock-out conditionnelles reproduisaient les changements ioniques et synaptiques observés chez les souris knock-out totales pour les clarines, entraînant une dégénérescence des neurones auditifs primaires. Pour renforcer cette hypothèse, j'ai étudié le phénotype auditif chez des souris ayant subi une délétion spécifique des neurones auditifs primaires (Bhlhb5-cre) de la clarine-1 et de la clarine-2. Ces souris avaient une audition normale jusqu'à l'âge de 6 mois, sans modification de l'épithélium sensoriel cochléaire ni de la dégénérescence des neurones auditifs primaires. Afin d'approfondir les fonctions moléculaires communes et uniques de clarine-1 et clarine-2, j'ai effectué une analyse séquentielle de l'ARN sur l'organe de Corti entier de souris Clrn1-/-, Clrn2-/- et Clrn1-/-Clrn2-/-. Conformément aux observations physiologiques, j'ai constaté une dysrégulation dans 8 catégories distinctes et physiologiquement pertinentes : le flux cationique, l’organisation et la fonction synaptique, l’endocytose et l’exocytose, la fonction neuronale et différenciation, la fonction métabolique, l’organisation de l'actine et du cytosquelette, l’homéostasie lipidique et l’inflammation. Nous concluons que la clarine-1 et la clarine-2 jouent des rôles communs et compensatoires dans l'activité de transduction mécano-électrique et dans l'intégrité pré- et post-synaptique. Les clarines sont également nécessaires à l'intégrité de la touffe ciliaire auditive, à l'homéostasie ionique dans les cellules ciliées auditives et à la survie des neurones auditifs primaires. Ces résultats permettront d'élucider de nouveaux mécanismes impliqués dans la perte progressive de l'audition
Despite high prevalence of debilitating hearing loss, underlying mechanisms of progressive hearing loss remain elusive. Our lab has been investigating the role(s) of clarin-1, responsible for Usher syndrome type III, causing progressive hearing loss, and clarin-2, responsible for non-syndromic hearing impairment, in the auditory system. Due to phenotypic variability in Usher Syndrome type III patients, even among patients with the same genetic mutations, we hypothesized that there may be a functional redundancy between the two clarins. Therefore, we generated clarin-1/clarin-2 total and conditional (Bhlhb5-cre and Myo15-cre) knockout mice. Using a multidisciplinary approach, integrating omics and electrophysiological studies with high resolution imaging over time, I pinpointed key molecular pathways dysregulated in the absence of clarin-1 and clarin-2 in auditory hair cells and primary auditory neurons. Phenotypic analysis of Clrn1-/-Clrn2-/- mice revealed profound deafness from hearing onset. Mechanoelectrical transduction (MET) current recordings were absent in Clrn1-/-Clrn2-/- mice, but only reduced in Clrn1-/- and Clrn2-/- mice. These results demonstrate a compensatory functional role of clarin-1 and clarin-2 at the hair bundle. I also observed abnormalities in ionic homeostasis, required for normal MET function and synaptic transmission, that were more severe in Clrn1-/-Clrn2-/- mice, relative to Clrn1-/- and Clrn2-/- mice. These ionic changes were accompanied by pre- and post-synaptic abnormalities, resulting in abnormal cytoplasmic vesicle accumulation and synaptic function in hair cells. Furthermore, I observed a progressive degeneration of the cochlear sensory epithelium and primary auditory neurons over time. To validate the hypothesis that the primary role(s) of clarin-1 and clarin-2 are in hair cells, I studied mice with hair cell-specific (Myo15-cre) deletion of clarin-1 and clarin-2. These conditional clarin knockout mice mimicked the ionic and synaptic changes found in total clarin knockout mice, resulting in primary auditory neuron degeneration. To reinforce this hypothesis, I studied the auditory phenotype in mice with primary auditory neuron-specific (Bhlhb5-cre) deletion of clarin-1 and clarin-2. These mice had normal audition up to 6 months of age, with no cochlear sensory epithelial changes or primary auditory neuron degeneration. To dig deeper into the common and unique molecular functions of clarin-1 and clarin-2, I performed RNA-seq on whole organ of Corti from Clrn1-/-, Clrn2-/-, and Clrn1-/-Clrn2-/- mice. In accordance with physiological observations, I found dysregulation in 8 distinct and physiologically relevant categories: cationic flux, synaptic organization and function, endocytosis and exocytosis, neuronal function and differentiation, metabolic function, actin and cytoskeletal organization, lipid homeostasis, and inflammation. We conclude that clarin-1 and clarin-2 play common and compensatory roles in mechanoelectrical transduction activity and pre- and post-synaptic integrity. The clarins are also required for auditory hair bundle integrity, ion homeostasis in auditory hair cells, and primary auditory neuronal survival. These findings will help elucidate novel mechanisms implicated in progressive hearing loss

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Joensuu, Tarja. « Positional cloning of the usher syndrome type 3 gene (USH3) ». Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.

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Fang, Fang. « Gain-of-function mutations in SCN5A gene lead to type-3 long QT syndrome ». Cleveland State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=csu1354056382.

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Huang, Hai. « Biophysical Characterization of Three SCN5A Mutations Linked to Long QT Syndrome Type 3, Sudden Infant Death Syndrome, and Atrial Fibrillation ». Thesis, Université Laval, 2010. http://www.theses.ulaval.ca/2010/27250/27250.pdf.

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Hirose, Sayako. « Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model ». Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/265195.

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Putos, Samantha. « Repurposing 13-Cis-Retinoic Acid : A Potential Treatment for Aneurysms-Osteoarthritis Syndrome ». Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32427.

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Approximately 7000 rare disorders exist, affecting 2 percent of Canadians and millions of people worldwide. Given that for many rare diseases only one allele is mutated, we hypothesize inducing expression of the remaining wild-type allele may have a therapeutic effect. SMAD3 heterozygosity results in Aneurysms-Osteoarthritis Syndrome (AOS) – an aortic aneurysm disorder also known as Loeys-Dietz Syndrome Type 3. We conducted a screen of FDA-approved compounds and found that 13-cis-retinoic acid (13-CRA) induces SMAD3 in normal human fibroblast cultures. Treatment with therapeutic concentrations of 13-CRA increased SMAD3 mRNA in normal human fibroblasts, patient fibroblasts, wild-type murine vascular smooth muscle cells and Smad3+/- murine vascular smooth muscle cells. Increases in SMAD3 protein were also observed in normal human fibroblasts, patient fibroblasts, and wild-type murine vascular smooth muscle cells. Immunofluorescent imaging revealed the primary site of protein induction to be nuclear. We report here the in vitro induction of SMAD3 mRNA and protein by therapeutic levels of 13-CRA and suggest further investigation of this modality for the treatment of AOS.

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Pineyro, Pineiro Pablo Enrique. « Novel approaches towards vaccine developments against porcine circovirus type 2 and porcine reproductive and respiratory syndrome virus ». Diss., Virginia Tech, 2015. http://hdl.handle.net/10919/77542.

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Porcine circovirus type 2 (PCV2) is the causative agent of porcine circovirus-associated disease (PCVAD). Porcine reproductive and respiratory syndrome (PRRS) is caused by PRRS virus (PRRSV). Both PCV2 and PRRSV have caused devastating diseases in the swine industry worldwide, resulting in immense economic losses. One of the most common co-infections in the swine industry is PCV2 and PRRSV. The aim of this dissertation research is to explore different experimental approaches to develop novel vaccines against the two major pathogens affecting swine production and study the basic mechanisms that may be involved in viral pathogenesis. Two types of porcine circovirus (PCV), PCV1 and PCV2, have been identified thus far. PCV1, first identified as a contaminant of the PK-15 cell line, is non-pathogenic and has a low prevalence in swine herds. PCV2 is highly prevalent in most swine-producing countries and is associated with clinical PCVAD. The non-pathogenic PCV1 shares similar genomic organization with PCV2. Previously, it has been demonstrated that a genetically modified infectious chimeric PCV1-2a virus can tolerate up to a 27 aa insertion in the C-terminus of the ORF2 without affecting infectivity and produce a dual immune response against PCV2cap and the inserted epitope tag. Therefore, we evaluated the use of the non-pathogenic PCV1 wild-type (wt) virus and chimeric PCV1-2a vaccine virus (vs) to express four known B-cell epitopes of PRRSV. Peptide epitopes of PRRSV-VR2385, including GP2II (aa 40–51, ASPSHVGWWSFA), GP3I (aa 61–72, QAAAEAYEPGRS), GP5I (aa 35–46, SSSNLQLIYNLT), and GP5IV (aa 187–200, TPVTRVSAEQWGRP) were inserted in frame into the C-terminus of the ORF2 of PCV1wt as well as the PCV1-2avs. Four PCV1-PRRSVEPI chimeric viruses and four PCV1-2a-PRRSVEPI chimeric viruses were successfully rescued and shown to be infectious in vitro and co-expressed PCV1cap or PCV2cap with each specific PRRSV epitope. Two independent animal studies were conducted to evaluate whether the non-pathogenic PCV1 can serve as a vaccine delivery vector and whether the PCV1-2a vaccine virus can be used to develop a bivalent vaccine against both PCV2 and PRRSV. We demonstrated that three PCV1-PRRSVEPI chimeric viruses and two PCV1-2a-PRRSVEPI chimeric viruses were infectious in pigs. Importantly, we demonstrated that the PCV1-PRRSVEPI and PCV1-2a-PRRSVEPI chimeric viruses not only induced specific PCV1 or PCV2 IgG antibody but also specific anti-PRRSV epitope antibody responses as well. Regardless of the PCV backbone used, we showed that the PCV-PRRSV chimeric viruses elicited neutralizing antibodies against PRRSV-VR2385. These results provided a proof of concept for the potential use of the non-pathogenic PCV1 as a vaccine delivery system for PRRSV or other swine pathogens and the use of PCV1-2a vaccine virus to generate a bivalent vaccine against both PCV2 and PRRSV. PRRSV causes a persistent infection and immunosuppression. Immunomodulation of the host immune system is caused by modulation of numerous interleukins, such as type I interferons, tumor necrosis factor alpha (TNF-α), interleukin-1 (IL-1), interleukin-6 (IL-6), and interleukin-12 (IL-12) in infected pigs. Antigen-presenting cells (APCs) are the first line of defense, and their infection plays an important role in innate-mediated immune regulation during early immune responses. Among the APCs, pulmonary alveolar macrophages (PAMs), pulmonary interstitial macrophages (PIMs), and dendritic cells (DCs) are the main targets for PRRSV replication. The role of PRRSV-DCs interaction is not fully understood, and current research focuses on the production and regulation of interferons through DC-SIGN receptors. In this study, we evaluated the immunomodulation of MoDCs by PRRSV through interactions with the pDC-SIGN receptor, by blocking pDC-SIGN with recombinant hICAM-3-Fc or anti-pDC-SIGN mAb. Our results indicate that recombinant hICAM-3-Fc enhances mRNA expression of proinflammatory cytokines and that anti-pDC-SIGN mAb inhibits mRNA expression of TNF-α and IL-1α and enhances the expression of IL-12 induced by PRRSV in MoDCs. The results will help understand the molecular mechanisms of PRRSV pathogenesis.
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Dina, Christian. « Analyse d'association génome entier de 3 pathologies : le diabète de type 2, le syndrome de Brugada et le prolapsus valvulaire mitral : observations sur l'architecture génétique de traits complexes ». Nantes, 2012. http://archive.bu.univ-nantes.fr/pollux/show.action?id=d029660f-aac0-4e98-ad6a-35894eef4403.

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Les maladies cardio-vasculaires et métaboliques représentent une proportion de plus en plus importante des facteurs réduisant la qualité et l’espérance de vie et entrainant une hausse vertigineuse des dépenses publiques dans le domaine de la santé. Cette augmentation est une des conséquences du vieillissement de la population dans nos sociétés occidentales ainsi que d’un changement marqué du mode de vie. Ce même phénomène touche également de plus en plus les pays en voie de développement. Devant cette urgence à remédier aux conséquences d’une telle explosion, la recherche des bases moléculaires de ces pathologies ainsi que de bio-marqueurs permettant d’augmenter leur prédictibilité représente une priorité. L’approche génétique, dans ce contexte, est une des voies les plus prometteuses. Cette approche présente de nombreuses variantes. Une des plus populaires dans la dernière décennie est l’approche des études d’association génome entier. La stratégie développée repose sur l’hypothèse d’un rôle important joué par variants génétiques fréquents pour des pathologies fréquentes. Ce paradigme a été nommé l’hypothèse de « Maladie fréquente, polymorphisme génétique fréquent » (« Common Variant / Common Disease »). Dans le cadre de ma thèse, j’explore l’effet de variants fréquents sur trois pathologies, le Diabète de Type 2, la Prolapsus Valvulaire Mitral, pathologies fréquentes et le Syndrome de Brugada, qui est rare dans la population. Ces trois pathologies présentent un poids important dans l’explosion des besoins sanitaires des populations, soit par la gravité des complications pour le Diabète de Type 2, soit par les besoins d’intervention chirurgicale lourde pour le Prolapsus Valvulaire Mitral ou enfin par le risque de Mort Subite inexpliquée pour le Syndrome de Brugada. J’ai appliqué différentes techniques génétiques que sont l’imputation, la méta-analyse et la correction de stratification afin de contribuer à mettre en évidence leurs bases génétiques. Dans le diabète de Type 2, la mise en évidence de l’architecture génétique était déjà bien avancée et j’ai participé à l’approfondissement de ces connaissances. Ces travaux ont permis de mettre en évidence jusqu’à 40 gènes associés après correction pour le nombre de tests. De façon important, nous avons montré qu’il existe une composante polygénique importante et que la plupart des gènes impliqués pointent vers un dysfonctionnement des cellules bêta. Les études sur le Prolapsus Valvulaire Mitral sont à un stade moins avancé. J’ai sélectionné des variants génétiques montrant une association possible et ces variants sont en cours de réplication. Les résultats préliminaires sur l’étude Framingham montrent la possible implication de gènes de la matrice extracellulaire. Enfin, pour le Syndrome de Brugada, j’ai clairement identifié trois loci qui montrent une association très significative et ne laissant pas de place au doute. Ces loci ont été répliqués aussi bien dans une population Européenne que dans une population Japonaise. Si l’implication de gènes codant pour des canaux ionique est confirmée, une autre voie liée au développement cardiaque est également mise en évidence. Enfin, au cours de ma thèse, j’ai également contribué à faire apparaître la notion de variant fréquent pour pathologie rare, dans l’étude d’association portant sur le Syndrome de Brugada
The escalating prevalence of cardio-vascular and metabolic disorders, and the limitations of currently available preventive and therapeutic options are increasingly important factors reducing the quality and life expectancy resulting in a dramatic increase in public spending in the health field. This emergency highlights the need for a more complete understanding of the pathogenesis of these diseases as well as the need for bio-markers to increase their predictability is a priority. The genetic approach, in this context, is among the most promising strategies. This approach has many variants. One of the most popular in the last decade is the approach of genome-wide association studies. The strategy is based on the assumption of an important role played by common genetic variants for common diseases. This paradigm has been called the assumption of "common variant, common disease". As part of my thesis, I explored the effect of common variants in three diseases, Diabetes Type 2, Mitral Valvular Prolapse, both being common pathologies and the Brugada syndrome, which is rare in the population. These three diseases strongly contribute to the explosion of population health needs, either by the severity of complications for Type 2 Diabetes, through the need of major surgery for Mitral Valvular Prolapse and through the increased risk of Sudden Death for Brugada Syndrome. I applied various techniques such as genetic imputation, meta-analysis and correction of stratification to help highlight their genetic bases. In Type 2 diabetes, highlighting of the genetic architecture was already well advanced and I participated in the deepening of knowledge. This work helped identify up to 40 genes. We have also shown that there is a substantial polygenic component underlying the genetic architecture of this disease and that most of the identified genes point to a dysfunction of beta cells. Studies on Mitral Valvular Prolapse are less advanced. I selected genetic variants showing a possible association and these variants are being replicated. Preliminary results on the Framingham study showed the possible involvement of genes of the extracellular matrix. Finally, for Brugada Syndrome, I clearly identified three loci that show a highly significant association with the disease. These loci were replicated as well in a European population in Japanese population. If the involvement of genes coding for ion channel proteins (SCN5A and SCN10A) seems to be confirmed, strengthening the definition of Brugada Syndrome as a channelopathy, another pathway possibly related to cardiac development was also identified (through the gene HEY2). Finally, during my PhD, I also contributed to create the concept of common variant for rare disease (CV/CR)

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Siew, Keith. « Gitelman & ; Gordon : mirror image syndromes reveal the roles of WNKs in blood pressure homeostasis and novel anti-hypertensive targets ». Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/289398.

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Study of Gordon (PHAII) and Gitelman (GS) syndromes revealed the importance of the WNK pathway and thiazide-sensitive Na-Cl Cotransporter (NCC) in the renal control of blood pressure. PHAII mutations lead to WNK accumulation resulting in the hyperphosphorylation of the downstream effector, SPAK, which overactivates NCC causing salt retention and hypertension. Mutations causing deletion of exon-9 in Cullin-3, which normally ubiquitylates WNKs for degradation, were recently discovered to cause the severest subtype of PHAII (PHA2E) with early onset salt-sensitive hypertension and hyperkalaemia. The reasons for this severity have remained elusive, however clues came from SPAK knock-out mice which recapitulate GS, the phenotypic mirror image of PHAII, typically caused by activation-inhibiting NCC phosphorylation site mutations resulting in salt-wasting and hypotension. As these mice were also discovered to have reduced vascular tone, it suggests the WNK pathway may have extra-renal roles in vascular smooth muscle function and highlights inhibition of SPAK function as a promising anti-hypertensive strategy with multiple sites of action. To address these possibilities the work aimed to phenotype: (1) heterozygous CUL3$^{WT/\Delta403-459}$ mice to investigate a possible vascular contribution to PHAII pathophysiology, (2) homozygous knock-out mice of MO25, a master regulator known to increase SPAK activity up to 100-fold independent of WNKs, and (3) homozygous SPAK$^{L502A/L502A}$ knock-ins, predicted to have disrupted SPAK binding to WNK/NCC, in order to validate SPAK signalling inhibition as a viable anti-hypertensive strategy. In mice, the CUL3$^{\Delta403-459}$ proteins are hyperflexible, hypermodified and ultimately have reduced WNK ubiquitylation. This lead to hypertension, hyperkalaemia, hyperchloraemia with compensated metabolic acidosis and growth retardation, which closely recapitulates human PHA2E. The discovery of increased vascular tone suggests an explanation for the severity of CUL3$^{\Delta}$$^{ex9}$PHAII. In mice, homozygous MO25$\alpha$ knock-out proved embryonically lethal, while homozygous MO25$\beta$ knock-out did not meaningfully alter blood pressure or electrolyte homeostasis. However, the SPAK$^{L502A}$ protein had a decreased ability to bind WNKs and cation-chloride cotransporters NCC and NKCC1/2, serving to reduce their activation. SPAK$^{L502A/L502A}$ mice showed typical features of GS with mild hypokalaemia, hypomagnesaemia, hypocalciuria and salt-wasting hypotension. The mice also presented with decreased markers of vascular tone potentially due to effects on cardiovascular and neuronal NKCC1. These results show that SPAK binding is crucial for blood pressure control and pharmacological inhibition of this binding is an attractive anti-hypertensive strategy.

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Zhou, Jing. « Omega-3 fatty acids in the early origins of metabolic syndrome ». Thesis, 2015. http://hdl.handle.net/2440/111993.

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The role of omega-3 long chain polyunsaturated fatty acids (n-3 LCPUFA), in particular docosahexaenoic acid (DHA) in decreasing fat deposition, fat cell formation and improving insulin sensitivity in vitro and in adult animals had led to suggestions that increasing the supply of these fatty acids before birth could improve later metabolic health outcomes in the child. However, few studies had explored the role of DHA in programming of obesity and type 2 diabetes, and the results had been inconsistent. Furthermore, the mechanisms through which exposure to an increased supply of DHA during development impacted on later health outcomes in the infant were also unclear. While studies in animal models had highlighted the importance of epigenetics in the link between intrauterine nutrition and the subsequent risk of obesity and insulin resistance in the offspring, the role of whether epigenetics in the prenatal programming of obesity in humans was unknown. In addition, while there was evidence that placental alterations played a critical role in developmental programming, few studies had explored the effect of DHA on placental gene expression/function. The central aim of this thesis was to determine the effect of a specific nutritional intervention (maternal DHA supplementation) on (1) markers of metabolic health (BMI, percent body fat, insulin sensitivity) in the children at 5 years of age and (2) global and gene-specific DNA methylation profiles in children at birth and at 5 years of age. I also aimed to determine the effect of DHA on placental proliferation and gene expression in vitro. This thesis studied children born to women who participated in a large randomised controlled trial of n-3 LCPUFA supplementation in pregnancy, the DOMInO trial, at birth and 5 years of age. Insulin sensitivity in these children was estimated from the HOMA-IR index at 5 years of age. DNA was obtained from blood samples of the DOMInO children collected at birth (n=1012) and at 5 years of age (n=715) for the assessment of global and genome-wide methylation. A human placenta first trimester cell line (HTR8/SVneo) was treated with a DHA-rich emulsion in order to determine effects of DHA on placental proliferation and gene expression. Maternal DHA supplementation was associated with a reduced insulin sensitivity (increased HOMA-IR index) and increased fasting insulin concentrations in the children at 5 years of age, particularly in males. There were also small but significant differences in methylation of 44 genomic regions at birth and 30 at 5 years of age, and more differentially methylated regions (DMRs) in males compared to females at both time points. DHA treatment increased proliferation rate of HTR8/SVneo cells, and 96 genes were differentially expressed between DHA and no treatment groups. Overall, the results of this thesis provide evidence that maternal DHA supplementation may reduce insulin sensitivity in the children, although whether this translates into differences in the incidence of type 2 diabetes later in life remains to be determined. I also demonstrated that DHA has small but significant effects on DNA methylation of specific genomic regions, and significantly altered proliferation and gene expression of a placental cell line in vitro, which suggests that both epigenetic and placental modifications may be involved in mediating the effects of increased DHA exposure before birth on health outcomes in the child.
Thesis (Ph.D.) -- University of Adelaide, School of Agriculture, Food and Wine, 2015.

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Livres sur le sujet "Syndrome d’Usher de type 3"

Robey, Seth Hamilton. Mechanisms of Mutation-Specific Inhibition of Late Na+ Current in Long QT Syndrome Type 3. [New York, N.Y.?] : [publisher not identified], 2017.

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J, Carlson-Newberry Sydne, Southern California Evidence-Based Practice Center/RAND. et United States. Agency for Healthcare Research and Quality., dir. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. Rockville, MD : Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services, 2004.

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United States. Agency for Healthcare Research and Quality., dir. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.] : Agency for Healthcare Research and Quality, 2004.

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United States. Agency for Healthcare Research and Quality, dir. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.] : Agency for Healthcare Research and Quality, 2004.

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Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.] : Agency for Healthcare Research and Quality, 2004.

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US GOVERNMENT. Effects of Omega-3 Fatty Acids on Lipids and Glycemic Control in Type II Diabetes and the Metabolic Syndrome and on Inflammatory Bowel Disease, Rheuma (Ahrq Publication). Agency for Healthcare Research and Quality, 2004.

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Strasburger, Victor C., et Susan M. Coupey, dir. AM:STARs : Metabolic Challenges to Adolescent Health, Vol. 19, No. 3. American Academy of Pediatrics, 2005. http://dx.doi.org/10.1542/9781581104103.

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This widely respected resource includes "The Adolescent Obesity Epidemic," "Adolescent Obesity: Etiology, Office Evaluation, and Treatment," "Medical Intervention in Adolescent Obesity," "Dietary Approaches to Healthy Weight Management for Adolescents," "Does Adolescent Media Use Cause Obesity and Eating Disorders?" "Bariatric Surgery in Adolescents: Mechanics, Metabolism, and Medical Care," "The Metabolic Syndrome: A Gathering Challenge in a Time of Abundance," "Type 2 Diabetes Mellitus," "Screening Adolescents for Lipid Disorders: What Is the Best Approach?" "Body Image, Eating Disorders, and the Media," "Eating Disorders," and "Bone Metabolism During Adolescence: The Known, the Unknown, and the Controversial."

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Chapitres de livres sur le sujet "Syndrome d’Usher de type 3"

Grant, Struan F. A. « Genetics of Type 2 Diabetes ». Dans Metabolic Syndrome, 141–57. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-11251-0_11.

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Grant, Struan F. A. « Genetics of Type 2 Diabetes ». Dans Metabolic Syndrome, 145–61. Cham : Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-40116-9_11.

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Soman, Sandeep, et Lindsey Aurora. « Type 3 Cardiorenal Syndrome ». Dans Textbook of Cardiorenal Medicine, 95–110. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_9.

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Grant, Struan F. A. « Genetics of Type 2 Diabetes ». Dans Metabolic Syndrome, 1–21. Cham : Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-12125-3_11-1.

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Grant, Struan F. A. « Genetics of Type 2 Diabetes ». Dans Metabolic Syndrome, 1–17. Cham : Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-12125-3_11-2.

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Burns, Carrie, et Nnenia Francis. « Type 2 Diabetes-Etiology, Epidemiology, Pathogenesis, Treatment ». Dans Metabolic Syndrome, 1–20. Cham : Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-12125-3_34-3.

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Di Lullo, Luca, et Claudio Ronco. « Type-5 Cardiorenal Syndrome ». Dans Textbook of Cardiorenal Medicine, 111–24. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_10.

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Rocha, Natalia, et Peter A. McCullough. « Type 2 Cardiorenal Syndrome ». Dans Textbook of Cardiorenal Medicine, 75–94. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_8.

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Dückers, Gregor, et Nima Rezaei. « Griscelli Syndrome (Type 2) ». Dans Genetic Syndromes, 1–3. Cham : Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-66816-1_46-1.

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Brems, Hilde, Ludwine Messiaen et Eric Legius. « Legius Syndrome : Diagnosis and Pathology ». Dans Neurofibromatosis Type 1, 487–96. Berlin, Heidelberg : Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-32864-0_31.

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Actes de conférences sur le sujet "Syndrome d’Usher de type 3"

Subasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg et David Malkin. « Abstract 1639 : Predictive modeling of cancer-type in Li-Fraumeni syndrome ». Dans Proceedings : AACR Annual Meeting 2019 ; March 29-April 3, 2019 ; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1639.

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Ahmed, MI, P. Jordan, M. Arora, M. Iqbal, S. Bandi et M. Prasad. « G399(P) Sturge weber syndrome type 3 masquerading as ‘migraine status’ at presentation ». Dans Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.392.

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Gochuico, Bernadette R., Heidi Dorward, Caroline Yeager, Blanca J. Gomez et William A. Gahl. « Galectin-3 Co-Localizes With EEA-1 In Type II Cells In Hermansky-Pudlak Syndrome Pulmonary Fibrosis ». Dans American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a3498.

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Sahu, Satya Narayan, Biswajit Mishra, Rojalin Sahu et Chandana Mohanty. « Binding performance of Boerhavia Diffusa plant extracts targeting mutant PLCE1 gene in type 3 nephrotic syndrome : A molecular docking approach ». Dans 2ND INTERNATIONAL CONFERENCE ON EMERGING SMART MATERIALS IN APPLIED CHEMISTRY (ESMAC-2021) : ESMAC-2021. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0127424.

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Silva, Bruno Custódio, Gisele Delazeri, Ana Luíza Kolling Konopka, Giulia Righetti Tuppini Vargas, Paulo Ricardo Gazzola Zen et Rafael Fabiano Machado Rosa. « Report of a family affected by fragile X syndrome and type 1 diabetes mellitus ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.076.

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Context: The fragile X syndrome is characterized by intellectual deficit and some physical characteristics, which become more evident during growth, especially craniofacial and macroorchidism. Case report: A 22 year-old male patient with diabetes mellitus type 1 (DM1) diagnosed at 7 years of age is following-up with ophthalmology due to low visual acuity. On physical exam, he did not maintain eye contact and performed repetitive movements. In addition, he had an elongated face and upward slanting eyelid clefts, a high palate and prognathism, large and prominent ears. In the family history, 3 of his siblings, one male and two female, also had intellectual deficit, and two of them had concomitant DM1. One brother had only DM1 and the other none of the diseases. The parents had consanguinity (they were cousins in the 3rd degree). The patient’s karyotype, using the chromosomal breaks technique after cultivation in medium-low folic acid, showed the presence of fragility on the X chromosome in the region q27.3 [46, XY, fra (x) (q27.3)], compatible with the diagnosis of fragile X syndrome. This result was confirmed using the PCR-multiplex technique. Conclusions: In this family, the concomitant presence in several individuals of the fragile X syndrome and DM1 stands out. However, although both conditions are not related, they are frequent, which could justify their simultaneous occurrence.

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Pinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge et al. « Oculogyric Crisis in a patient with PURA Syndrome ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.

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Context: PURA syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, delayed psychomotor development, early-onset feeding difficulties and an epileptic encephalopathy. Case Report: A 3-month-old Brazilian boy presented with severe neonatal hypotonia associated with feeding difficulties due to serious dysphagia requiring nasoenteral tube feeding. Excessive drowsiness, poor social interaction and repetitive episodes of involuntary abnormal upward eye movements and ocular version with short duration were also reported by parents. Neurological examination revealed severe axial and upper limb hypotonia, orofacial dyskinetic movements and episodes of abnormal eye movements with upward ocular deviation with less than 30 seconds in duration compatible with oculogyric crisis. It was performed Whole-Exome sequencing and it was identified a new pathogenic variant in PURA gene that establisehd the final diagnosis of PURA Syndrome or Autosomal Dominant Mental Retardation type 31, MDR 31 (OMIM #616158). Conclusions: PURA Syndrome emerges as one of the major differential diagnoses of neonatal hypotonia and in addition, we can consider the early manifestation of oculogyric crisis as a phenotypic expansion of the syndrome, making its diagnosis even more challenging, since epileptic encephalopathies and neurotransmitter deficiency-related diseases present with a similar clinical course.

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Rosborough, B. R., Y. Jiang, J. Chen, G. Kitsios, B. J. McVerry, A. Ray, W. Chen et P. Ray. « Single Cell RNA Sequencing Identifies Type I Interferon Signaling and Reduced Suppressor of Cytokine Signaling 3 Expression in Monocytes of Acute Respiratory Distress Syndrome Patients ». Dans American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a6541.

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Nobrega, Gabriela Bezerra, Marina Bellatti Küller, Gabriela Marçal Rios, Jonathan Yugo Maesaka et José Roberto Filassi. « Follow-up of a Li-Fraumeni syndrome case ». Dans Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1062.

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Introduction: Li-Fraumeni syndrome (LFS) is responsible for about 1% of hereditary breast cancers (BC). We present a case report of a young woman with synchronous osteosarcoma and BC. Case Report: NOB, 23 years old. Mother died with BC at 36 years old and sister died due to neuroblastoma at 2 years old. She was referred in 2021 for a nodule in her left breast and the ultrasound results showed an irregular nodule of 1.5×1.2×1.3 cm BI-RADS®5 and anatomopathological invasive carcinoma of non-special histological type (NST), estrogen receptor 80%, progesterone receptor 100%, Her2 negative, and Ki67 60% cT1N0. It was associated with a lesion in the alveolar mucosa with bleeding and deformity of the oral cavity with anatomopathological high histological osteosarcoma-T1N0. Surgical treatment was performed: maxillectomy of meso and bilateral infrastructure+tracheostomy+reconstruction with microsurgical flap of the fibula and, then, left adenomastectomy+sentinel lymph node biopsy+prosthesis reconstruction. Surgical anatomopathological results in central/medullary high-grade conventional osteosarcoma chondroblasts 7.3×6.1×3.9 cm, free surgical margins and four cervical lymph nodes free of neoplastic involvement, and invasive breast carcinoma NST with medullary characteristics 1.8×1.3 cm, free margins, and absence of metastasis in two sentinel lymph nodes –pT1pN0. Genetic test resulted in pathogenic mutation TP53 gene, position chr17:7.674.257, consequence p.Tyr236HisENST00000269305. Adjuvant chemotherapy was docetaxel+cyclophosphamide. Two years after treatment, she is taking tamoxifen, scheduled for contralateral adenomastectomy, and maintains high-risk follow-up. There is no signal of any cancer disease. Discussion: LFS is an autosomal dominant inheritance of high penetrance. The diagnosis is based on the identification of a pathogenic variant in the TP53 gene. It is related to several tumors diagnosed at an early age. BC is the most common cancer and affects 27–31% of patients. Osteosarcoma corresponds to 3%–16% of cases, usually occurring before the age of 30 years. The prognosis of patients does not differ from those with sporadic cancer. They must be monitored by a multidisciplinary team, screening with annual whole body/breast MRI and mammography, and colonoscopy every 5 years. Genetic counseling is essential.

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Gyoneva, Lazarina, Mohammad F. Hadi, Yoav Segal, Kevin D. Dorfman et Victor H. Barocas. « Role of Lateral Interactions in Type IV Collagen Network Mechanics ». Dans ASME 2013 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/sbc2013-14625.

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The basement membrane is a specialized part of the extra-cellular matrix. It is usually characterized as a scaffold for epithelial cells but in some tissues it serves other, mechanical, roles [1]. The mechanical properties of the basement membrane are mainly determined by one of its main constituents — type IV collagen. Unlike the well-known fibrous type I collagen, collagen IV assembles into planar networks (Fig. 1) [2]. The α 1(IV) and α 2(IV) collagen IV chains assemble into the so-called major chain network, present in all basement membranes. The α 3(IV), α 4(IV), α 5(IV) collagen IV chains form the minor chain network which is found only in the adult basement membranes of the kidney glomerular capillaries (GBM), ocular lens (LBM), cochlea, and the testes [3]. The minor chains have a higher number of cysteine residues, allowing them to form a higher number of lateral interactions. In the minor chain network, the greater potential to interact laterally manifests in the formation of super-coils, which are rarely observed in the major chain network [4]. Increasing the number of cross-links in a polymeric material is known to increase material stiffness; therefore, it is believed that the minor chain network confers basement membranes with additional strength and stability [5]. In the hereditary disease Alport syndrome, a mutation causes the absence of the minor chain network. The GBM and LBM of Alport patients appear weakened and unable to meet their mechanical demands, further supporting this theory [6]. The objective of this study was to evaluate the importance of cross-linking in the minor chains for the mechanical properties of type IV collagen networks, specifically in the GBM and LBM where the absence of the minor chains has an observed mechanical effect.

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Rapports d'organisations sur le sujet "Syndrome d’Usher de type 3"

YARIKOV, A. V., et I. I. SMIRNOV. EXPERIENCE OF DENERVATION OF INTERVERTEBRAL JOINTS OF THE LUMBAR SPINE. Science and Innovation Center Publishing House, avril 2022. http://dx.doi.org/10.12731/978-0-615-67340-0-1.

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In this work, the immediate and long-term results of denervation of intervertebral joints in 30 patients with pain syndrome in the lumbar spine were studied. The catamnesis was collected from 18 patients in terms from 1.7 months to 18 months after surgery. Pain syndrome on a visually analog scale after surgery decreased by an average of 20-30 mm. Subclinically expressed anxiety/depression persists in all patients with a “good” result of treatment, the assessment was carried out using the hospital Anxiety and Depression Scale (HADS). According to the Nurick scale, treatment results were assessed at level 2 (improvement) in 93.3% of cases (n=28), level 3 (unchanged condition) - 6.7% of cases (n=2). According to the results of the study, denervation of the intervertebral joints is an effective minimally invasive method of treating facet syndrome. It allows in the early and long-term postoperative periods to significantly reduce the pain syndrome and improve the quality of life of patients. The authors also admit that the pain syndrome in the back is polyethological, which requires careful selection of patients for this type of procedure.

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Xin, Yuning, Hongyu Li, Gungyu Cheng, Junfeng Cui, Yinghui Liu, Aidong Liu, Xiaolin Xu, Pengfei Li et Huize Han. Evaluation of the Effectiveness and Safety of Acupuncture in the Treatment of Cervicogenic Hypertension A Protocol for Systematic Review and Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, décembre 2022. http://dx.doi.org/10.37766/inplasy2022.12.0036.

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Review question / Objective: The purpose of this study is to explore the efficacy and safety of acupuncture in the treatment of patients with cervicogenic hypertension，Through scientific verification, it provides clinicians with application reference and provides more choices for patients to solve pain. Patients included should have a clear diagnosis of cervicogenic hypertension(In the absence of antihypertensive drugs, blood pressure was measured 3 times a day, systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg; or a clear history of hypertension and Diagnosis of cervical spondylosis using computed tomography, magnetic resonance imaging, and other imaging methods)；The intervention group received acupuncture treatment alone or acupuncture combined with treatment by Chinese herbal medicine or conventional Western medicine; The control group was a blank control group, a placebo group, a fake acupuncture group or received treatment only through conventional Western medicine； The Inclusion criteria of study type was an RCT; The outcomes of the main analyses were efficacy of clinical symptoms，systolic blood pressure value，Diastolic blood pressure value；Secondary outcome indicators were Traditional Chinese Medicine syndrome curative effects, Traditional Chinese Medicine syndrome scores,and adverse reactions.

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Chou, Roger, Rongwei Fu, Tracy Dana, Miranda Pappas, Erica Hart et Kimberly M. Mauer. Interventional Treatments for Acute and Chronic Pain : Systematic Review. Agency for Healthcare Research and Quality (AHRQ), septembre 2021. http://dx.doi.org/10.23970/ahrqepccer247.

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Objective. To evaluate the benefits and harms of selected interventional procedures for acute and chronic pain that are not currently covered by the Centers for Medicare & Medicaid Services (CMS) but are relevant for and have potential utility for use in the Medicare population, or that are covered by CMS but for which there is important uncertainty or controversy regarding use. Data sources. Electronic databases (Ovid® MEDLINE®, PsycINFO®, the Cochrane Central Register of Controlled Trials, and the Cochrane Database of Systematic Reviews) to April 12, 2021, reference lists, and submissions in response to a Federal Register notice. Review methods. Using predefined criteria and dual review, we selected randomized controlled trials (RCTs) for 10 interventional procedures and conditions that evaluated pain, function, health status, quality of life, medication use, and harms. Random effects meta-analysis was conducted for vertebral compression fracture; otherwise, outcomes were synthesized qualitatively. Effects were classified as small, moderate, or large using previously defined criteria. Results. Thirty-seven randomized trials (in 48 publications) were included. Vertebroplasty (13 trials) is probably more effective at reducing pain and improving function in older (>65 years of age) patients, but benefits are small (less than 1 point on a 10-point pain scale). Benefits appear smaller (but still present) in sham-controlled (5 trials) compared with usual care controlled trials (8 trials) and larger in trials of patients with more acute symptoms; however, testing for subgroup effects was limited by imprecision. Vertebroplasty is probably not associated with increased risk of incident vertebral fracture (10 trials). Kyphoplasty (2 trials) is probably more effective than usual care for pain and function in older patients with vertebral compression fracture at up to 1 month (moderate to large benefits) and may be more effective at >1 month to ≥1 year (small to moderate benefits) but has not been compared against sham therapy. Evidence on kyphoplasty and risk of incident fracture was conflicting. In younger (below age for Medicare eligibility) populations, cooled radiofrequency denervation for sacroiliac pain (2 trials) is probably more effective for pain and function versus sham at 1 and 3 months (moderate to large benefits). Cooled radiofrequency for presumed facet joint pain may be similarly effective versus conventional radiofrequency, and piriformis injection with corticosteroid for piriformis syndrome may be more effective than sham injection for pain. For the other interventional procedures and conditions addressed, evidence was too limited to determine benefits and harms. Conclusions. Vertebroplasty is probably effective at reducing pain and improving function in older patients with vertebral compression fractures; benefits are small but similar to other therapies recommended for pain. Evidence was too limited to separate effects of control type and symptom acuity on effectiveness of vertebroplasty. Kyphoplasty has not been compared against sham but is probably more effective than usual care for vertebral compression fractures in older patients. In younger populations, cooled radiofrequency denervation is probably more effective than sham for sacroiliac pain. Research is needed to determine the benefits and harms of the other interventional procedures and conditions addressed in this review.

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