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1.
Disabil Health J ; : 101680, 2024 Aug 13.
Article de Anglais | MEDLINE | ID: mdl-39152070

RÉSUMÉ

BACKGROUND: Peer mentors have a role in facilitating the participation, health and well-being of people who have had a traumatic injury. Few studies have explored the involvement of peer mentors in an early intervention vocational rehabilitation (EIVR) service following trauma. OBJECTIVE: This study aimed to explore the experience of implementing peer support within the context of an EIVR service from the perspectives of the peer mentors themselves, the vocational therapists supervising them, and the patients that received peer mentoring. METHODS: Semi-structured interviews were conducted with twenty participants from three groups: peer mentors (n = 4); vocational therapists (n = 3); and patients who received the EIVR intervention (n = 24). Data were thematically analysed. RESULTS: Three themes were identified: The value of peer input in an EIVR service, The facilitators impacting the value of peer involvement as part of the EIVR service, The challenges impacting peer input as part of an EIVR service. CONCLUSIONS: The inclusion of peer mentors early after major traumatic injury was a unique and valuable addition to the EIVR service. Offering peer support early on in rehabilitation enabled patients to gain a sense of hope for their future, and the expectation that returning to work was a realistic option. The careful selection of peer mentors, and ensuring they receive adequate preparation and ongoing supervision are vital to support their well-being during the intervention. Aiming to match peer mentors with similar injuries and work backgrounds to patients is an important contributor to the likely ongoing engagement of the mentee with the mentor.

2.
J Hosp Infect ; 148: 77-86, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38554807

RÉSUMÉ

BACKGROUND: Pseudomonas aeruginosa (PA) is a common cause of healthcare-associated infection (PA-HAI) in the intensive care unit (ICU). AIM: To describe the epidemiology of PA-HAI in ICUs in Ontario, Canada, and to identify episodes of sink-to-patient PA transmission. METHODS: This was a prospective cohort study of patients in six ICUs from 2018 to 2019, with retrieval of PA clinical isolates, and PA-screening of antimicrobial-resistant organism surveillance rectal swabs, and of sink drain, air, and faucet samples. All PA isolates underwent whole-genome sequencing. PA-HAI was defined using US National Healthcare Safety Network criteria. ICU-acquired PA was defined as PA isolated from specimens obtained ≥48 h after ICU admission in those with prior negative rectal swabs. Sink-to-patient PA transmission was defined as ICU-acquired PA with close genomic relationship to isolate(s) previously recovered from sinks in a room/bedspace occupied 3-14 days prior to collection date of the relevant patient specimen. FINDINGS: Over ten months, 72 PA-HAIs occurred among 60/4263 admissions. The rate of PA-HAI was 2.40 per 1000 patient-ICU-days; higher in patients who were PA-colonized on admission. PA-HAI was associated with longer stay (median: 26 vs 3 days uninfected; P < 0.001) and contributed to death in 22/60 cases (36.7%). Fifty-eight admissions with ICU-acquired PA were identified, contributing 35/72 (48.6%) PA-HAIs. Four patients with five PA-HAIs (6.9%) had closely related isolates previously recovered from their room/bedspace sinks. CONCLUSION: Nearly half of PA causing HAI appeared to be acquired in ICUs, and 7% of PA-HAIs were associated with sink-to-patient transmission. Sinks may be an under-recognized reservoir for HAIs.


Sujet(s)
Infection croisée , Unités de soins intensifs , Infections à Pseudomonas , Pseudomonas aeruginosa , Humains , Unités de soins intensifs/statistiques et données numériques , Pseudomonas aeruginosa/génétique , Pseudomonas aeruginosa/isolement et purification , Pseudomonas aeruginosa/classification , Infection croisée/épidémiologie , Infection croisée/microbiologie , Infection croisée/transmission , Infections à Pseudomonas/épidémiologie , Infections à Pseudomonas/transmission , Infections à Pseudomonas/microbiologie , Études prospectives , Ontario/épidémiologie , Mâle , Adulte d'âge moyen , Femelle , Sujet âgé , Adulte , Sujet âgé de 80 ans ou plus , Séquençage du génome entier
3.
Phys Rev Lett ; 130(10): 101001, 2023 Mar 10.
Article de Anglais | MEDLINE | ID: mdl-36962014

RÉSUMÉ

Dark matter elastic scattering off nuclei can result in the excitation and ionization of the recoiling atom through the so-called Migdal effect. The energy deposition from the ionization electron adds to the energy deposited by the recoiling nuclear system and allows for the detection of interactions of sub-GeV/c^{2} mass dark matter. We present new constraints for sub-GeV/c^{2} dark matter using the dual-phase liquid argon time projection chamber of the DarkSide-50 experiment with an exposure of (12 306±184) kg d. The analysis is based on the ionization signal alone and significantly enhances the sensitivity of DarkSide-50, enabling sensitivity to dark matter with masses down to 40 MeV/c^{2}. Furthermore, it sets the most stringent upper limit on the spin independent dark matter nucleon cross section for masses below 3.6 GeV/c^{2}.

4.
Phys Rev Lett ; 130(10): 101002, 2023 Mar 10.
Article de Anglais | MEDLINE | ID: mdl-36962032

RÉSUMÉ

We present a search for dark matter particles with sub-GeV/c^{2} masses whose interactions have final state electrons using the DarkSide-50 experiment's (12 306±184) kg d low-radioactivity liquid argon exposure. By analyzing the ionization signals, we exclude new parameter space for the dark matter-electron cross section σ[over ¯]_{e}, the axioelectric coupling constant g_{Ae}, and the dark photon kinetic mixing parameter κ. We also set the first dark matter direct-detection constraints on the mixing angle |U_{e4}|^{2} for keV/c^{2} sterile neutrinos.

5.
J Crit Care ; 57: 130-133, 2020 06.
Article de Anglais | MEDLINE | ID: mdl-32145655

RÉSUMÉ

PURPOSE: We evaluated the feasibility and impact of PCT-guided antibiotic duration combined with an established antibiotic stewardship program (ASP) in a community hospital intensive care unit (ICU). METHODS: We implemented daily PCT levels for ICU patients receiving antibiotics. Our protocol recommended stopping antibiotic therapy if PCT met an absolute or relative stopping threshold. We evaluated the adherence to stopping criteria within 48 h, antibiotic use [days of therapy (DOT) per 1000 patient-days (PD)], length of stay and ICU-mortality. We performed interrupted time series analysis to compare 24 months before and 12 months after implementation. RESULTS: A total of 297 antibiotic courses were monitored with PCT in 217 patients. Protocol adherence was 34% (absolute threshold: 39%, relative threshold: 12%). Antibiotic use pre-PCT was 935 DOTs/1000 PDs and post-PCT was 817 DOTs/1000 PDs (RRadj 0.73, 95% CI: 0.62 to 0.86). No statistically significant changes in clinical outcomes were noted. CONCLUSION: In the context of an established ASP in a community hospital ICU, PCT monitoring was feasible and associated with an adjusted overall decrease of 27% in antibiotic use with no adverse impact on clinical outcomes. Incorporating PCT testing to guide antibiotic duration can be successful if integrated into workflow and paired with ASP guidance.


Sujet(s)
Antibactériens/usage thérapeutique , Gestion responsable des antimicrobiens , Unités de soins intensifs/organisation et administration , Procalcitonine/sang , Adulte , Sujet âgé , Marqueurs biologiques/sang , Soins de réanimation , Adhésion aux directives , Hôpitaux communautaires , Humains , Adulte d'âge moyen , Ontario
6.
AIDS Behav ; 23(5): 1210-1224, 2019 May.
Article de Anglais | MEDLINE | ID: mdl-30680540

RÉSUMÉ

A growing body of evidence suggests that network-based interventions to reduce HIV transmission and/or improve HIV-related health outcomes have an important place in public health efforts to move towards 90-90-90 goals. However, the social processes involved in network-based recruitment may pose a risk to participants of increasing HIV-related stigma if network recruitment causes HIV status to be assumed, inferred, or disclosed. On the other hand, the social processes involved in network-based recruitment to HIV testing may also encourage HIV-related social support. Yet despite the relevance of these processes to both network-based interventions and to other more common interventions (e.g., partner services), there is a dearth of literature that directly examines them among participants of such interventions. Furthermore, both HIV-related stigma and social support may influence participants' willingness and ability to recruit their network members to the study. This paper examines (1) the extent to which stigma and support were experienced by participants in the Transmission Reduction Intervention Project (TRIP), a risk network-tracing intervention aimed at locating recently HIV-infected and/or undiagnosed HIV-infected people and linking them to care in Athens, Greece; Odessa, Ukraine; and Chicago, Illinois; and (2) whether stigma and support predicted participant engagement in the intervention. Overall, experiences of stigma were infrequent and experiences of support frequent, with significant variation between study sites. Experiences and perceptions of HIV-related stigma did not change significantly between baseline and six-month follow-up for the full TRIP sample, and significantly decreased during the course of the study at the Chicago site. Experiences of HIV-related support significantly increased among recently-HIV-infected participants at all sites, and among all participants at the Odessa site. Both stigma and support were found to predict participants' recruitment of network members to the study at the Athens site, and to predict participants' interviewer-rated enthusiasm for naming and recruiting their network members at both the Athens and Odessa sites. These findings suggest that network-based interventions like TRIP which aim to reduce HIV transmission likely do not increase stigma-related risks to participants, and may even encourage increased social support among network members. However, the present study is limited by its associational design and by some variation in implementation by study site. Future research should directly assess contextual differences to improve understanding of the implications of site-level variation in stigma and support for the implementation of network-based interventions, given the finding that these constructs predict participants' recruitment of network members and engagement in the intervention, and thereby could limit network-based interventions' abilities to reach those most in need of HIV testing and care.


Sujet(s)
Infections à VIH/prévention et contrôle , Infections à VIH/transmission , Promotion de la santé , Santé publique , Stigmate social , Soutien social , Adulte , Chicago , Femelle , Grèce , Infections à VIH/psychologie , Connaissances, attitudes et pratiques en santé , Humains , Mâle , Dépistage de masse , Ukraine , Jeune adulte
7.
Environ Manage ; 62(6): 1073-1088, 2018 12.
Article de Anglais | MEDLINE | ID: mdl-30310973

RÉSUMÉ

Livestock productions require significant resources allocation in the form of land, water, energy, air, and capital. Meanwhile, owing to increase in the global demand for livestock products, it is wise to consider sustainable livestock practices. In the past few decades, footprints have emerged as indicators for sustainability assessment. In this study, we are introducing a new footprint measure to assess sustainability of a grazing dairy farm while considering carbon, water, energy, and economic impacts of milk production. To achieve this goal, a representative farm was developed based on grazing dairy practices surveys in the State of Michigan, USA. This information was incorporated into the Integrated Farm System Model (IFSM) to estimate the farm carbon, water, energy, and economic impacts and associated footprints for ten different regions in Michigan. A multi-criterion decision-making method called VIKOR was used to determine the overall impacts of the representative farms. This new measure is called the food footprint. Using this new indicator, the most sustainable milk production level (8618 kg/cow/year) was identified that is 19.4% higher than the average milk production (7215 kg/cow/year) in the area of interest. In addition, the most sustainable pasture composition was identified as 90% tall fescue with 10% white clover. The methodology introduced here can be adopted in other regions to improve sustainability by reducing water, energy, and environmental impacts of grazing dairy farms, while maximizing the farm profit and productions.


Sujet(s)
Élevage/méthodes , Industrie laitière/méthodes , Lait/métabolisme , Développement durable , Élevage/économie , Animaux , Empreinte carbone , Bovins/métabolisme , Climat , Industrie laitière/économie , Environnement , Fermes/statistiques et données numériques , Femelle , Michigan , Lait/économie
8.
J Clin Microbiol ; 54(9): 2343-7, 2016 09.
Article de Anglais | MEDLINE | ID: mdl-27385708

RÉSUMÉ

The objective of this study was to determine the impact of selective susceptibility reporting on ciprofloxacin utilization and Gram-negative susceptibility to ciprofloxacin in a hospital setting. Historically at our institution, the microbiology laboratory practice was to report ciprofloxacin susceptibility for all Enterobacteriaceae regardless of susceptibility to other agents. A selective reporting policy was implemented which involved the suppression of ciprofloxacin susceptibility to Enterobacteriaceae when there was lack of resistance to the antibiotics on the Gram-negative panel. Ciprofloxacin utilization (measured in defined daily doses [DDD] per 1,000 patient days) was collected before and after the intervention and compared to moxifloxacin, trimethoprim-sulfamethoxazole, nitrofurantoin, and amoxicillin-clavulanate. Monthly susceptibility of Pseudomonas aeruginosa and Escherichia coli to ciprofloxacin was tabulated. An interrupted time series analysis using segmented regression was performed. The mean monthly ciprofloxacin utilization decreased from 87 (95% CI, 83.7 to 91.2) to 39 (95% CI, 35.0 to 44.0) DDD per 1,000 patient days before and after the implementation of selective reporting, respectively. There was an immediate and sustained reduction in ciprofloxacin usage at 1, 3, 6, 12, and 24 months postintervention (P < 0.001). A compensatory increase in amoxicillin-clavulanate use was noted starting at 6 months postintervention and persisted for the study period (P < 0.027). Susceptibility of E. coli, but not that of P. aeruginosa, to ciprofloxacin was higher than predicted starting 12 months after the intervention (P < 0.05). In conclusion, selective reporting of ciprofloxacin susceptibly may be a useful intervention to reduce targeted antimicrobial utilization and improve Gram-negative susceptibility to ciprofloxacin. This approach should be considered as part of a broader multimodal antimicrobial stewardship program.


Sujet(s)
Antibactériens/usage thérapeutique , Ciprofloxacine/usage thérapeutique , Résistance bactérienne aux médicaments , Utilisation médicament/normes , Bactéries à Gram négatif/effets des médicaments et des substances chimiques , Infections bactériennes à Gram négatif/traitement médicamenteux , Tests de sensibilité microbienne/méthodes , Antibactériens/pharmacologie , Ciprofloxacine/pharmacologie , Hôpitaux , Humains , Analyse de série chronologique interrompue
9.
Psychol Med ; 46(5): 1079-90, 2016 Apr.
Article de Anglais | MEDLINE | ID: mdl-26708017

RÉSUMÉ

BACKGROUND: Anxiety and depression are common following traumatic brain injury (TBI), often co-occurring. This study evaluated the efficacy of a 9-week cognitive behavioral therapy (CBT) program in reducing anxiety and depression and whether a three-session motivational interviewing (MI) preparatory intervention increased treatment response. METHOD: A randomized parallel three-group design was employed. Following diagnosis of anxiety and/or depression using the Structured Clinical Interview for DSM-IV, 75 participants with mild-severe TBI (mean age 42.2 years, mean post-traumatic amnesia 22 days) were randomly assigned to an Adapted CBT group: (1) MI + CBT (n = 26), or (2) non-directive counseling (NDC) + CBT (n = 26); or a (3) waitlist control (WC, n = 23) group. Groups did not differ in baseline demographics, injury severity, anxiety or depression. MI and CBT interventions were guided by manuals adapted for individuals with TBI. Three CBT booster sessions were provided at week 21 to intervention groups. RESULTS: Using intention-to-treat analyses, random-effects regressions controlling for baseline scores revealed that Adapted CBT groups (MI + CBT and NDC + CBT) showed significantly greater reduction in anxiety on the Hospital Anxiety and Depression Scale [95% confidence interval (CI) -2.07 to -0.06] and depression on the Depression Anxiety and Stress Scale (95% CI -5.61 to -0.12) (primary outcomes), and greater gains in psychosocial functioning on Sydney Psychosocial Reintegration Scale (95% CI 0.04-3.69) (secondary outcome) over 30 weeks post-baseline relative to WC. The group receiving MI + CBT did not show greater gains than the group receiving NDC + CBT. CONCLUSIONS: Findings suggest that modified CBT with booster sessions over extended periods may alleviate anxiety and depression following TBI.


Sujet(s)
Troubles anxieux/thérapie , Lésions traumatiques de l'encéphale/psychologie , Thérapie cognitive/méthodes , Trouble dépressif/thérapie , Entretien motivationnel/méthodes , Adulte , Anxiété , Troubles anxieux/diagnostic , Australie , Dépression , Trouble dépressif/diagnostic , Diagnostic and stastistical manual of mental disorders (USA) , Femelle , Humains , Mâle , Adulte d'âge moyen , Analyse de régression , Indice de gravité de la maladie , Résultat thérapeutique
10.
J Clin Microbiol ; 53(12): 3951-3, 2015 Dec.
Article de Anglais | MEDLINE | ID: mdl-26424845

RÉSUMÉ

Vancomycin-variable enterococcus (VVE) is an emerging pathogen. VVE isolates initially appear phenotypically susceptible to vancomycin but possesses the vanA gene and can develop in vitro and in vivo resistance to vancomycin. We report a case of VVE bacteremia and describe how VVE poses diagnostic and therapeutic dilemmas.


Sujet(s)
Antibactériens/pharmacologie , Bactériémie/microbiologie , Enterococcus/effets des médicaments et des substances chimiques , Enterococcus/isolement et purification , Infections bactériennes à Gram positif/microbiologie , Résistance à la vancomycine , Vancomycine/pharmacologie , Sujet âgé , Protéines bactériennes/génétique , Carbon-oxygen ligases/génétique , Électrophorèse en champ pulsé , Enterococcus/classification , Enterococcus/génétique , Femelle , Humains , Tests de sensibilité microbienne , Typage moléculaire
11.
Can Commun Dis Rep ; 41(10): 223-226, 2015 Oct 01.
Article de Anglais | MEDLINE | ID: mdl-29769916

RÉSUMÉ

WHAT IS ALREADY KNOWN ON THIS TOPIC?: Q fever is a zoonotic disease caused by Coxiella burnetii and is usually transmitted through inhalation of air contaminated with animal excreta. The disease is considered to be underdiagnosed because symptoms are nonspecific and can vary from patient to patient, making diagnosis difficult. WHAT IS ADDED BY THIS REPORT?: During September-October 2014, the New York State Department of Health identified Q fever in five patients with exposure to a treatment known as live cell therapy, an alternative medicine practice involving injections of fetal sheep cells, which is a type of xenotransplantation. Investigation revealed that a group of U.S. residents traveled to Germany twice a year to receive this treatment. WHAT ARE THE IMPLICATIONS FOR PUBLIC HEALTH PRACTICE?: Clinicians should consider zoonotic diseases, such as Q fever, in patients whose history includes receipt of a treatment known as live cell therapy. International travel for xenotransplantation procedures can facilitate transmission of zoonotic disease.

12.
N Z Vet J ; 63(2): 104-9, 2015 Mar.
Article de Anglais | MEDLINE | ID: mdl-25415756

RÉSUMÉ

AIMS: To determine the concentration of Campylobacter spp. as well as faecal indicator bacteria; faecal coliforms, Escherichia coli and enterococci in the faeces of healthy adult horses in a sample of properties in the Canterbury region of New Zealand. METHODS: The faeces of healthy adult horses (n=59), including ponies, pleasure horses and Thoroughbreds, were collected from eight properties around Christchurch, New Zealand. The faeces were analysed for concentrations of Campylobacter spp and faecal indicator bacteria; faecal coliforms, Escherichia coli and enterococci. The presence of other animals on the properties sampled as well as the age, feed and health of the horses at the time of sampling was recorded. RESULTS: Enterococci and faecal coliforms were isolated from all samples, and E. coli was isolated from 58/59 samples. Mean concentrations of faecal coliforms and E. coli did not differ between properties, but there was a significant difference in mean concentration of enterococci between properties. Campylobacter spp. were detected in two faecal samples with one isolate being determined by PCR analysis to be a thermotolerant Campylobacter species, the other C. jejuni. CONCLUSIONS: This is the first known report quantifying the concentration of Campylobacter spp. present in healthy adult horses in New Zealand. The presence of equine faecal material in water could elevate concentrations of faecal bacteria and therefore needs to be considered as a source of water contamination. The access of horses to waterways and coastal environments may also need to be restricted to prevent transmission of faecal indicator bacteria and potentially zoonotic agents.


Sujet(s)
Campylobacter/isolement et purification , Enterobacteriaceae/isolement et purification , Fèces/microbiologie , Equus caballus/microbiologie , Animaux , Enterococcus/classification , Enterococcus/isolement et purification , Escherichia coli/isolement et purification , Nouvelle-Zélande
13.
J Inherit Metab Dis ; 31(6): 690-6, 2008 Dec.
Article de Anglais | MEDLINE | ID: mdl-18985434

RÉSUMÉ

A programme for proficiency testing of biochemical genetics laboratories undertaking urinary qualitative organic acid analysis and its results for 50 samples examined for factors contributing to poor performance are described. Urine samples from patients in whom inherited metabolic disorders have been confirmed as well as control urines were circulated to participants and the results from 94 laboratories were evaluated. Laboratories showed variability both in terms of their individual performance and on a disease-specific basis. In general, conditions including methylmalonic aciduria, propionic aciduria, isovaleric aciduria, mevalonic aciduria, Canavan disease and 3-methylcrotonyl-CoA carboxylase were readily identified. Detection was poorer for other diseases such as glutaric aciduria type II, glyceric aciduria and, in one sample, 3-methylcrotonyl-CoA carboxylase deficiency. To identify the factors that allow some laboratories to perform well on a consistent basis while others perform badly, we devised a questionnaire and compared the responses with the results for performance in the scheme. A trend towards better performance could be demonstrated for those laboratories that regularly use internal quality control (QC) samples in their sample preparation (p = 0.079) and those that participate in further external quality assurance (EQA) schemes (p = 0,040). Clinicians who depend upon these diagnostic services to identify patients with these defects and the laboratories that provide them should be aware of the potential for missed diagnoses and the factors that may lead to improved performance.


Sujet(s)
Acides carboxyliques/urine , Maladies métaboliques/diagnostic , Maladies métaboliques/urine , Chimie clinique/normes , Humains , Laboratoires/normes , Assurance de la qualité des soins de santé , Contrôle de qualité , Reproductibilité des résultats
14.
J Med Screen ; 15(3): 112-7, 2008.
Article de Anglais | MEDLINE | ID: mdl-18927092

RÉSUMÉ

OBJECTIVES: It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study. METHODS: Homozygous c.985A>G MCADD cases were ascertained in six English newborn screening centres between 1 March 2004 and 28 February 2007 by screening approximately 1.1 million newborns using tandem mass spectrometry analysis of underivatised blood spot samples to quantitate octanoylcarnitine (C8). Follow-up biochemistry and mutation analyses for cases (mean triplicate C8 value >/=0.5 micromol/L) were reviewed to confirm diagnosis. Ethnicity was ascertained from clinician report and denominators from 2001 UK Census estimates of ethnic group of children less than one year. RESULTS: Sixty-four infants were c.985A>G MCADD homozygotes (overall prevalence 5.8 per 100,000 live births; 95% CI 4.4-7.2). Sixty (93%) were White, two (3%) were mixed/other and two were of unknown ethnic origin. No Asian or Black homozygotes were identified. Proportions of White, mixed/other, Asian and Black births in screening regions were estimated, yielding homozygous c.985A>G MCADD birth prevalence of 6.9 per 100,000 (95% CI 5.2-8.8) in White, and 95% CI estimates of 0-2.7 per 100,000 in Asian and 0-5.8 in Black populations. The c.985A>G carrier frequency in the White group was estimated at one in 65 (95% CI 1/74, 1/61) under Hardy-Weinberg conditions. CONCLUSION: c.985A>G homozygous MCADD is not found in Black and Asian ethnic groups that have been screened at birth in England. This is consistent with the earlier published observations suggesting that MCADD due to the c.985A>G mutation is a disease of White ethnic origin.


Sujet(s)
Acyl-CoA dehydrogenase/déficit , Acyl-CoA dehydrogenase/génétique , Erreurs innées du métabolisme lipidique/génétique , Polymorphisme de nucléotide simple , Enfant , Ethnies/génétique , Dépistage génétique/méthodes , Homozygote , Humains , Incidence , Nouveau-né , Erreurs innées du métabolisme lipidique/diagnostic , Erreurs innées du métabolisme lipidique/épidémiologie , Dépistage de masse , Dépistage néonatal , Prévalence , Royaume-Uni/épidémiologie
16.
J Inherit Metab Dis ; 28(4): 533-44, 2005.
Article de Anglais | MEDLINE | ID: mdl-15902556

RÉSUMÉ

General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality. However, isolated LCHAD deficiency can also be consistent with long-term survival in patients identified and treated from an early age. We present biochemical, clinical and mutation data in 9 patients spanning the full spectrum of disease. Fibroblast acylcarnitine profiling shows good correlation with clinical phenotype using the ratio C18(OH)/(C14(OH)+C12(OH)). This ratio shows a gradation of values, from high in four patients with severe neonatal disease (2.5+/-0.8), to low in two neuromyopathic patients (0.35, 0.2). Fibroblast fatty acid oxidation flux assays also show correlation with the patient phenotype, when expressed either as percentage residual activity with palmitate or as a ratio of percentage activity of myristate/oleate (M/O ratio). Fibroblasts from four patients with severe neonatal disease gave an M/O ratio of 4.0+/-0.6 compared to 1.97 and 1.62 in two neuromyopathic patients. Specific enzyme assay of LCHAD and long-chain 3-ketothiolase activity in patient cells shows lack of correlation with phenotype. These results show that measurements in intact cells, which allow all determinative and modifying cellular factors to be present, better reflect patient phenotype. Mutation analysis reveals a number of alpha- and beta-subunit mutations. Peripheral sensorimotor polyneuropathy, often as the initial major presenting feature but usually later accompanied by episodic rhabdomyolysis, is a manifestation of mild TFP protein deficiency. The mild clinical presentation and relative difficulty in diagnosis suggest that this form of TFP is probably underdiagnosed.


Sujet(s)
Long-chain-acyl-CoA dehydrogenase/déficit , Erreurs innées du métabolisme lipidique/diagnostic , Erreurs innées du métabolisme lipidique/génétique , Mitochondries/anatomopathologie , Complexes multienzymatiques/déficit , Cardiomyopathies/diagnostic , Cardiomyopathies/génétique , Carnitine/analogues et dérivés , Carnitine/métabolisme , Exons , Acides gras/métabolisme , Fibroblastes/métabolisme , Homozygote , Humains , Mâle , Protéine trifonctionnelle mitochondriale , Mutation , Phénotype , Polyneuropathies/diagnostic , Polyneuropathies/génétique , Pronostic , Rhabdomyolyse/diagnostic , Rhabdomyolyse/génétique
17.
Int Orthop ; 29(3): 152-5, 2005 Jun.
Article de Anglais | MEDLINE | ID: mdl-15806358

RÉSUMÉ

Peri-acetabular radiolucent lines (RLLs) seen on "early" post-operative radiographs have been identified as a potential predictor of long-term implant performance. This study examines the inter- and intra-observer variation encountered when assessing such radiographs. Four consultant orthopaedic surgeons assessed the presence, extent and width of RLLs in 220 radiographs performed on 50 patients taken one to two weeks, six weeks, six months and one year following surgery. Inter-observer agreement was fair at 7-14 days but improved to moderate to good in films at six and 12 months. Intra-observer agreement was moderate to good at 7-10 days but again improved to good at 6 and 12 months. When only the presence or absence of RLLs was considered, both inter-observer and intra-observer agreement improved for both the six-month and one-year radiographs. This experiment shows that caution must be used for the interpretation of RLLs on hip radiographs taken during the very early post-operative period. We recommend that films taken at least six weeks to six months following surgery should be used for assessment to reduce observer variation. For optimum results, a single experienced observer should do the assessment with a simple classification.


Sujet(s)
Arthroplastie prothétique de hanche/effets indésirables , Articulation de la hanche/imagerie diagnostique , Prothèse de hanche/effets indésirables , Sujet âgé , Humains , Adulte d'âge moyen , Biais de l'observateur , Coxarthrose/chirurgie , Période postopératoire , Défaillance de prothèse , Radiographie
18.
Mol Ecol ; 13(5): 1085-98, 2004 May.
Article de Anglais | MEDLINE | ID: mdl-15078447

RÉSUMÉ

Populations of the freshwater mussel genus Anodonta appear to be in a state of rapid decline in western North America, following a trend that unfortunately seems to be prevalent among these animals (Mollusca: Unionoida). Here we describe the patterns of molecular divergence and diversity among Anodonta populations in the Bonneville Basin, a large sub-basin of the Great Basin in western North America. Using amplified fragment length polymorphism (AFLP) analysis, we found a striking lack of nuclear diversity within some of these populations, along with a high degree of structuring among populations (FST = 0.61), suggesting post-Pleistocene isolation, due either to a long-term loss of hydrologic connectivity among populations or to more recent fish introductions. We also found evidence of recent hybridization in one of these populations, possibly mediated by fish-stocking practices. Using mitochondrial sequence data, we compared the Bonneville Basin populations to Anodonta in several other drainages in western North America. We found a general lack of resolution in these phylogenetic reconstructions, although there was a tendency for the Bonneville Basin Anodonta (tentatively A. californiensis) to cluster with A. oregonensis from the adjacent Lahontan Basin in Nevada. We recommend further investigation of anthropogenic factors that may be contributing to the decline of western Anodonta and a broad-scale analysis and synthesis of genetic and morphological variation among Anodonta in western North America.


Sujet(s)
Bivalvia/génétique , Évolution moléculaire , Variation génétique , Génétique des populations , Phylogenèse , Animaux , Séquence nucléotidique , ADN mitochondrial/génétique , Eau douce , Géographie , Haplotypes/génétique , Hybridation génétique/génétique , Fonctions de vraisemblance , Modèles génétiques , Données de séquences moléculaires , Polymorphisme de restriction , Analyse de séquence d'ADN , Utah
19.
J Subst Abuse ; 13(1-2): 215-27, 2001.
Article de Anglais | MEDLINE | ID: mdl-11547621

RÉSUMÉ

PURPOSE: The study sought to understand the HIV testing patterns of low-income drug users. METHODS: Sixty-seven low-income drug users were recruited from street outreach venues in three San Francisco Bay Area counties. Participants were interviewed using an open-ended questionnaire eliciting information on HIV testing histories, sexual behavior, and drug use. Transcripts from interviews were coded and analyzed using methods consistent with the grounded theory approach of qualitative research. RESULTS: Participants identified four themes related to HIV testing: (1) anticipating positive results, (2) belief in a 10-year window period during which the virus is undetectable, (3) regular HIV testing as part of self-care, and (4) the HIV test as a means of control. These themes did not relate to personal risk behavior but rather to the community experience of HIV in small, dense populations of low-income drug users with high rates of HIV infection. IMPLICATIONS: Participants used HIV testing like regular mammograms or blood pressure checks, as if it were a screening procedure for a chronic illness. This is a reasonable response given the context of HIV within their communities. HIV testing in this population should not be limited.


Sujet(s)
Sérodiagnostic du SIDA/psychologie , Infections à VIH/psychologie , Infections à VIH/transmission , Comportement sexuel/psychologie , Troubles liés à une substance/psychologie , Adolescent , Adulte , Communication , Femelle , Humains , Entretiens comme sujet , Mâle , Adulte d'âge moyen , Prise de risque
20.
AIDS Care ; 13(5): 561-77, 2001 Oct.
Article de Anglais | MEDLINE | ID: mdl-11571004

RÉSUMÉ

Injection drug use plays a critical role in the spread of HIV/AIDS, with an estimated 19,000 drug users infected each year. Counselling and testing services can be an important gateway for engaging HIV-infected individuals into medical care and can positively influence the preventive behaviours of IDUs. This study seeks to document and understand the complexity and range of motivations and deterrents to HIV testing among IDUs. Participants were recruited using a convenience sampling method. Interviews consisted of a qualitative guide and a quantitative survey to collect HIV testing histories, sex and drug risk behaviours, and demographic information. Interview data was coded and content analyzed to identify emerging themes and clarify the processes that drug users employ in deciding whether or not to test. Sixty-six drug users were interviewed. The sample reported a median of four lifetime HIV tests. Participants described a range of motivating and deterring factors to HIV testing across personal, interpersonal and structural categories. Drug users' decision to test is influenced by a complex network of factors. Better understanding of these motivators and deterrents can help providers develop a more holistic approach to targeting this high-risk population for HIV prevention efforts.


Sujet(s)
Infections à VIH/prévention et contrôle , Motivation , Acceptation des soins par les patients/psychologie , Toxicomanie intraveineuse/psychologie , Adulte , Femelle , Infections à VIH/psychologie , Infections à VIH/transmission , Humains , Mâle , Adulte d'âge moyen , Prise de risque , Comportement sexuel , Enquêtes et questionnaires
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