23 research outputs found

    Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment

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    PubMedID: 28337616Background: ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. Methods: A total of 146 index patients aged 10–18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation. Results: Twenty-eight individuals with bi-allelic mutation from 11 families were identified. Median age at diagnosis was 12.4 (interquartile range [IQR] 8.04–19.7) years. Upon first admission, all patients had albuminuria and 18 had CKD (6 ESKD). Eight were diagnosed either through the screening of family members following index case identification or during genetic investigation of proteinuria in an individual with a history of a transplanted sibling. Median age of these 8 patients was 21.5 (range 4.4–39) years. CoQ10 supplementation was administered following genetic diagnosis. Median estimated glomerular filtration rate (eGFR) just before CoQ10 administration was 140 (IQR 117–155) ml/min/1.73m2, proteinuria was 1,008 (IQR 281–1,567) mg/m2/day. After a median follow-up of 11.5 (range 4–21) months following CoQ10 administration, proteinuria was significantly decreased (median 363 [IQR 175–561] mg/m2/day, P=0.025), whereas eGFR was preserved (median 137 [IQR 113–158] ml/min/1.73m2, P=0.61). Conclusions: ADCK4 mutations are one of the most common causes of adolescent-onset albuminuria and/or CKD of unknown etiology in Turkey. CoQ10 supplementation appears efficacious at reducing proteinuria, and may thereby be renoprotective. © 2017, IPNA.Seventh Framework Programme 2012-305608 HEK12/112-13The research leading to these results has received funding from the European Community?s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305608 (EURenOmics). The study was approved by the ethics committee of Hacettepe University (HEK12/112-13). Written informed consent was obtained from the parents of all the patients. Non

    New Horizons for Shipbuilding Process Improvement

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    "In 2004, we start an Initiative—Lean Six Sigma Initiative to achieve our Op Ex Goals. We will be conducting a number of on boarding sessions for Six Sigma with senior leaders in DOD, NAVY, and most importantly Defense Contractors. We will require Six Sigma training for direct reports."John Young, Assistant Secretary of the Navy (Research, Development, and Acquisition)The announcement of NAVSEA's Lean Six Sigma initiative has ushered in a new era in the ways that naval combatants are designed, built, and operated. As the Navy's budgetary constraints increase in the coming years, the challenges they face in the 21st century will grow. New levels of process performance are mandated. This paper first highlights the opportunities that the Lean Six Sigma roadmap brings to shipbuilding process improvement and then details the efforts to adopt Lean Six Sigma and align it with the continuous improvement initiative at Northrop Grumman Ship Systems. Aspects of management strategy, design for Six Sigma, and replicating process improvements as part of integrating Lean Six Sigma with Knowledge Management are discussed.</jats:p

    Consequências mal adaptativas de invasões mentais com conteúdos relacionados a transtornos obsessivos, dismórficos, hipocondríacos e alimentares: diferenças transculturais

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    Background/Objective: Unwanted mental intrusions (UMIs) with contents related to ObsessiveCompulsive Disorder (OCD), Body Dysmorphic Disorder (BDD), Illness Anxiety Disorder (IAD), and Eating Disorders (EDs) are highly prevalent, independently of the cultural and/or social context. Cognitive-behavioral explanations for these disorders postulates that the escalation from common UMIs to clinically relevant symptoms depends on the maladaptive consequences (i.e., emotions, appraisals, and control strategies) of experiencing UMIs. This study examines, from across-cultural perspective, the cognitive-behavioral postulates of the maladaptive consequences of having UMIs. Method: Non-clinical 1,473 participants from Europe, the Middle-East, and South America completed the Questionnaire of Unpleasant Intrusive Thoughts to assess the maladaptive consequences of experiencing highly disturbing OCD, BDD, IAD, and EDs-related UMIs.info:eu-repo/semantics/publishedVersio

    Part 1—you can run but you can’t hide: intrusive thoughts on six continents

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    &nbsp;Most cognitive approaches for understanding and treating obsessive-compulsive disorder (OCD) rest on the assumption that nearly everyone experiences unwanted intrusive thoughts, images and impulses from time to time. These theories argue that the intrusions themselves are not problematic, unless they are misinterpreted and/or attempts are made to control them in maladaptive and/or unrealistic ways. Early research has shown unwanted intrusions to be present in the overwhelming majority of participants assessed, although this work was limited in that it took place largely in the US, the UK and other \u27westernised\u27 or \u27developed\u27 locations. We employed the International Intrusive Thoughts Interview Schedule (IITIS) to assess the nature and prevalence of intrusions in nonclinical populations, and used it to assess (n=777) university students at 15 sites in 13 countries across 6 continents. Results demonstrated that nearly all participants (93.6%) reported experiencing at least one intrusion during the previous three months. Doubting intrusions were the most commonly reported category of intrusive thoughts; whereas, repugnant intrusions (e.g., sexual, blasphemous, etc.) were the least commonly reported by participants. These and other results are discussed in terms of an international perspective on understanding and treating OCD. &copy; 2013 Elsevier Ltd
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