A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

We have identified a naturally occurring mutation in the promoter of the lipoprotein lipase (LPL) gene. One of 20 patients with familial combined hyperlipidemia (FCHL) and reduced levels of postheparin plasma LPL activity was found to be a heterozygote carrier of this mutation. The mutation, a T-->C substitution at nt -39, occurred in the binding site of the transcription factor Oct-1. As a result, the transcriptional activity of the mutant promoter was < 15% of wild type, as determined by transfection studies in the human macrophage-like cell line THP-1. This decrease in promoter activity was observed in undifferentiated as well as in phorbol ester-differentiated THP-1 cells. Furthermore, the inductive effect of elevating the levels of intracellular cAMP was equally reduced. This mutation was not present among 20 FCHL patients with normal plasma LPL levels nor has it been reported among individuals with familial LPL deficiency. Thus, heterozygosity for LPL promoter mutations may be one of several factors that contribute to the etiology of FCHL.

Comparação entre prótese plástica e metálica na paliação endoscópica da obstrução maligna da via biliar: revisão sistemática e metanálise baseadas em estudos randomizados

INTRODUÇÃO: A prótese biliar endoscópica é aceita em todo o mundo como a primeira escolha de tratamento paliativo na obstrução biliar maligna. Atualmente ainda persistem dois tipos de materiais utilizados em sua confecção: plástico e metal. Consequentemente, muitas dúvidas surgem quanto a qual deles é o mais benéfico para o paciente. Esta revisão reúne as informações disponíveis da mais alta qualidade sobre estes dois tipos de prótese, fornecendo informações em relação à disfunção, complicação, taxas de reintervenção, custos, sobrevida e tempo de permeabilidade; e pretende ajudar a lidar com a prática clínica nos dias de hoje. OBJETIVO: Analisar, através de metanálise, os benefícios de dois tipos de próteses na obstrução biliar maligna inoperável. MÉTODOS: Uma revisão sistemática de ensaios clínicos randomizados (RCT) foi conduzida, com a última atualização em março de 2015, utilizando EMBASE, CINAHL (EBSCO), Medline, Lilacs / Centro (BVS), Scopus, o CAPES (Brasil), e literatura cinzenta. As informações dos estudos selecionados foram extraídas tendo em vista seis desfechos: primariamente disfunção, taxas de reintervenção e complicações; e, secundariamente, custos, sobrevivência e tempo de permeabilidade. Os dados sobre as características dos participantes do RCT, critérios de inclusão e exclusão e tipos de próteses também foram extraídos. Os vieses foram avaliados principalmente através da escala de Jadad. Esta metanálise foi registrada no banco de dados PROSPERO pelo número CRD42014015078. A análise do risco absoluto dos resultados foi realizada utilizando o software RevMan 5, calculando as diferenças de risco (RD) de variáveis dicotômicas e média das diferenças (MD) de variáveis contínuas. Os dados sobre a RD e MD para cada desfecho primário foram calculados utilizando o teste de Mantel-Haenszel e a inconsistência foi avaliada com o teste Qui-quadrado (Chi2) e o método de Higgins (I2). A análise de sensibilidade foi realizada com a retirada de estudos discrepantes e a utilização do efeito aleatório. O teste t de Student foi utilizado para a comparação das médias aritméticas ponderadas, em relação aos desfechos secundários. RESULTADOS: Inicialmente foram identificados 3660 estudos; 3539 foram excluídos por título ou resumo, enquanto 121 estudos foram totalmente avaliados e foram excluídos, principalmente por não comparar próteses metálicas (SEMS) e próteses plásticas (PS), levando a treze RCT selecionados e 1133 indivíduos metanálise. A média de idade foi de 69,5 anos, e o câncer mais comum foi de via biliar (proximal) e pancreático (distal). O diâmetro de SEMS mais utilizado foi de 10 mm (30 Fr) e o diâmetro de PS mais utilizado foi de 10 Fr. Na metanálise, SEMS tiveram menor disfunção global em comparação com PS (21,6% versus 46,8% p < 0,00001) e menos reintervenções (21,6% versus 56,6% p < 0,00001), sem diferença nas complicações (13,7% versus 15,9% p = 0,16). Na análise secundária, a taxa média de sobrevida foi maior no grupo SEMS (182 contra 150 dias - p < 0,0001), com um período maior de permeabilidade (250 contra 124 dias - p < 0,0001) e um custo semelhante por paciente, embora menor no grupo SEMS (4.193,98 contra 4.728,65 Euros - p < 0,0985). CONCLUSÃO: SEMS estão associados com menor disfunção, menores taxas de reintervenção, melhor sobrevida e maior tempo de permeabilidade. Complicações e custos não apresentaram diferença

Investigação da eficácia da teleconsulta na programação do implante coclear

A demanda crescente de usuários de implante coclear (IC) e a distribuição irregular de profissionais especializados no país, tornam necessário o deslocamento de pacientes por longas distâncias para os atendimentos, com consequente aumento dos custos diretos e indiretos do tratamento. A teleconsulta pode ser vista como uma alternativa em potencial para o acesso desta população a estes serviços. O presente ensaio clínico, randomizado, controlado, avaliou a eficácia da teleconsulta síncrona na programação dos sistemas de IC em usuários acompanhados em um Programa de Implante Coclear credenciado pelo Sistema Único de Saúde. Participaram do estudo 79 indivíduos com idades entre nove e 68 anos (média de 21,6), 41 do sexo masculino e 38 do sexo feminino, usuários de IC por um período de 0,58 a 24,75 anos. Estes indivíduos foram divididos em dois grupos, de acordo com o modo de programação do IC: controle (n=40), que realizou o procedimento face a face e experimental (n=39) que realizou a teleconsulta síncrona. Treze fonoaudiólogos sem experiência na programação do dispositivo atuaram como facilitadores das teleconsultas. Os procedimentos de programação do IC englobaram a telemetria de impedância, definição dos níveis de estimulação elétrica, varredura e balanceamento dos eletrodos e ajuste fino da programação. Como medidas de avaliação de resultados foram utilizados o tempo dispendido na consulta, a audiometria em campo livre, o percentual de reconhecimento de sentenças no silêncio e no ruído, o limiar de reconhecimento de sentenças no silêncio e ruído (HINT-Brasil), a avaliação da satisfação com a consulta (escala MISS-21) e de aspectos pertinentes à teleconsulta. Os facilitadores responderam as questões abertas referentes à suas impressões dos atendimentos. Os dados foram analisados por meio de estatística inferencial (testes t de Student, Wilcoxon, Mann-Whitney e correlação de Spearman). Os resultados mostraram que após a programação do IC, em média, os participantes apresentaram limiares audiométricos abaixo de 30 dB NA. O reconhecimento da fala pós atendimento, respectivamente para os grupos experimental e controle, foram de 81,3% e 83,8% (silêncio) e 57,9% e 58,1% (ruído). No HINT-Brasil os resultados foram, respectivamente, para os grupos experimental e controle 61,4 dB NA e 61,8 dB NA (silêncio) e relação S/R de 9,5 dB NA e 10,4 dB NA (ruído). Os participantes estiveram satisfeitos com a consulta. Não houve diferença estatisticamente significativa entre os grupos em nenhuma das medidas de resultado. Todos os participantes relataram que teleconsulta pode ser vista como uma alternativa viável ao atendimento face a face e sua aplicação clínica facilitaria a rotina de pacientes usuários de IC. Os facilitadores destacaram a sua importância para o aprendizado e como ferramenta de formação continuada. A teleconsulta síncrona foi eficaz na programação dos sistemas de IC e amplamente aceita pelos usuários e profissionais.

Stability of a Novel Intraocular Lens Design: Comparison of Two Trifocal Lenses

PURPOSE: To compare visual outcomes, rotational stability, and centration in a randomized controlled trial in patients undergoing cataract surgery who were bilaterally implanted with two different trifocal intraocular lenses (IOLs) with a similar optical zone but different haptic shape. METHODS: Twenty-one patients (42 eyes) with cataract and less than 1.50 D of corneal astigmatism underwent implantation of one FineVision/MicoF IOL in one eye and one POD FineVision IOL in the contralateral eye (PhysIOL, Liège, Belgium) at IOA Madrid Innova Ocular, Madrid, Spain. IOL allocation was random. Outcome measures, all evaluated 3 months postoperatively, included monocular and binocular uncorrected distance (UDVA), corrected distance (CDVA), distance-corrected intermediate (DCIVA), and near (DCNVA) visual acuity (at 80, 40, and 25 cm) under photopic conditions, refraction, IOL centration, haptic rotation, dysphotopsia, objective quality of vision and aberration quantification, patient satisfaction, and spectacle independence. RESULTS: Three months postoperatively, mean monocular UDVA, CDVA, DCIVA, and DCNVA (40 cm) under photopic conditions were 0.04 ± 0.07, 0.01 ± 0.04, 0.15 ± 0.11, and 0.16 ± 0.08 logMAR for the eyes implanted with the POD FineVision IOL and 0.03 ± 0.05, 0.01 ± 0.02, 0.17 ± 0.12, and 0.14 ± 0.08 logMAR for those receiving the FineVision/MicroF IOL. Moreover, the POD FineVision IOL showed similar centration (P > .05) and better rotational stability (P < .05) than the FineVision/MicroF IOL. Regarding halos, there was a minimal but statistically significant difference, obtaining better results with FineVision/MicroF. Full spectacle independence was reported by all patients. CONCLUSIONS: This study revealed similar visual outcomes for both trifocal IOLs under test (POD FineVision and FineVision/MicroF). However, the POD FineVision IOL showed better rotational stability, as afforded by its design.

New-Generation Hybrid Contact Lens for the Management of Extreme Irregularity in a Thin Cornea After Unsuccessful Excimer Laser Refractive Surgery

Purpose: To report a very successful outcome obtained with the fitting of a new-generation hybrid contact lens of reverse geometry in a thin cornea with extreme irregularity due to the presence of a central island after unsuccessful myopic excimer laser refractive surgery. Methods: A 32-year-old man attended to our clinic complaining of very poor vision in his right eye after bilateral laser in situ keratomileusis (treatment or surgery) for myopia correction and some additional retreatments afterward. After a comprehensive ocular evaluation, contact lens fitting with a reverse geometry hybrid contact lens (SynergEyes PS, SynergEyes, Carlsbad, CA) was proposed as a solution for this case. Visual, refractive, and ocular aberrometric outcomes with the contact lens were evaluated. Results: Distance visual acuity improved from a prefitting uncorrected value of 20/200 to a postfitting corrected value of 20/16. Prefitting manifest refraction was +6.00 sphere and −3.00 cylinder at 70°, with a corrected distance visual acuity of 20/40. Higher order root mean square for a 5-mm pupil changed from a prefitting value of 1.45 to 0.34 µm with the contact lens. The contact lens wearing was reported as comfortable, and the patient was very satisfied with this solution. Conclusions: The SynergEyes PS contact lens seems to be an excellent option for the visual rehabilitation of corneas with extreme irregularity after myopic excimer laser surgery, minimizing the level of higher order aberrations and providing an excellent visual outcome.

Therapeutic drug monitoring of cefepime with micellar electrokinetic capillary chromatography: Assay improvement, quality assurance, and impact on patient drug levels

The improvement and performance of a micellar electrokinetic capillary chromatography assay for cefepime in human serum and plasma with a 50 μm id fused-silica capillary elongated from 40 to 60 cm is reported. Sample preparation with dodecylsulfate protein precipitation at pH 4.5, the pH 9.1 separation medium and the applied voltage were as reported previously[16]. The change resulted in a significant lower current, higher resolution and increased detection time intervals. The performance of the assay with multi-level internal calibration was assessed with calibration and control samples. Quality assurance data of a two year period assessed under the new conditions demonstrated the robustness of the assay. In serum samples of patients who received both cefepime and sulfamethoxazole, cefepime could not be detected due to the inseparability of the two compounds. The presence of an interference can be recognized by an increased peak width (width > 0.2 min), the appearance of a shoulder or an unresolved double peak. The patient data gathered during a three year period reveal that introduction of therapeutic drug monitoring led to a 50% reduction of the median drug level. The data suggest that therapeutic drug monitoring can help to minimize the risk of major adverse reactions and to increase drug safety on an individual basis. This article is protected by copyright. All rights reserved.

Adult attention-deficit/hyperactivity disorder and nicotine withdrawal: a qualitative study of patient perceptions

Background: Nicotine use has been reported to ameliorate symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD). Furthermore, adults with ADHD have a relatively high prevalence of cigarette smoking and greater difficulty abstaining from smoking. Overall, though, there is scant literature investigating the beliefs, perceptions and experiences of smokers with ADHD regarding smoking cessation and withdrawal. Methods: Our participants (n = 20) fulfilling criteria for ADHD and a past or current dependence from nicotine were recruited from the in- and outpatient clinic of the Zurich University Psychiatric Hospital and the Psychiatric Services Aargau (Switzerland). We conducted in-depth interviews to explore their motivations to quit, past experiences with and expectations about quitting using a purposeful sampling plan. The sample was selected to provide diversity in relation to level of nicotine dependence, participation in a smoking-cessation program, gender, age, martial status and social class. Mayring’s qualitative content analysis approach was used to evaluate findings. Results: Adult smokers with ADHD had made several attempts to quit, experienced intense withdrawal symptoms, and relapsed early and often. They also often perceived a worsening of ADHD symptoms with nicotine abstinence. We identified three motives to quit smoking: 1) health concerns, 2) the feeling of being addicted, and 3) social factors. Most participants favored a smoking cessation program specifically designed for individuals with ADHD because they thought ADHD complicated their nicotine withdrawal and that an ADHD-specific smoking cessation program should address specific symptoms of this disorder. Conclusions: Since treatment initiation and adherence associate closely with perception, we hope these findings will result in better cessation interventions for the vulnerable subgroup of smokers with ADHD. Keywords: ADHD, Nicotine, Withdrawal, Subjective, Qualitative, Narrative

Osteoporosis and hip fractures : 1995-2000 /

Hip fracture is the most adverse outcome of osteoporosis. Few surveillance sources exist to estimate the extent of the burden of illness of osteoporosis in Illinois. Because hip fractures are an important proxy measure for the existence of osteoporosis, the Illinois Health Care Cost Containment Council examined hospital use, treatment and outcome measures for hip fracture patients during the years 1995 through 2000. Osteoporosis, as the underlying cause of hip fracture hospitalizations, is investigated for results of treatment and disposition at discharge. In the year 1995, 12,637, discharges for hip fracture patients were reported by Illinois hospitals. In contrast, in the year 2000, 12,311, discharges for hip fracture patients were reported by Illinois hospitals. This study will provide a descriptive analysis of hospital reported discharges during this six-year period, focusing on patient age and gender, cause of injury, treatments, outcomes, billed charges and expected payment source. A significant percentage of hip fractures occurred in people aged 65 and above. Hip fracture rates per thousand persons in females exceeded males in every age group in the study. Females accounted for approximately 75% of all hip fracture discharges during the study period. Facility charges for hip fracture cases in 1995 were over $213.5 million. Comparable charges in 2000 exceeded $270 million. Over 80% of patients in 2000 were discharged to another health care facility for additional care. A review of pathological fractures and reported cases of diagnosed osteoporosis are included to round out the study.

Postoperative Analgesia Following Sciatic Nerve Blockade Administered by Nurse Anesthetists Supervised by Regional Anesthesia Faculty in an Academic Hospital

Introduction: Assessment of expertise in regional anesthesia techniques is traditionally based upon quota fulfillment of procedures during training. Validation of practitioner proficiency in performing procedures in surgical specialties has moved from simple measurement of technical skills to evaluation of global patient outcomes. Complete absence of pain as a result of nerve blockade is the most important clinical endpoint but patient, technical and procedural factors influence results. The purpose of this study was to measure the postoperative pain scores and associated analgesic medication requirements for patients administered sciatic nerve blockade by nurse anesthetists and determine patient or procedural factors that influenced this outcome. Methods: Either nerve stimulator or ultrasound guided sciatic nerve blockade was administered by nurse anesthetists under the supervision of regional anesthesia faculty. Patient demographic data that was collected included gender, body mass index, surgical procedure, and pre-existing chronic pain with associated opioid use. Patient self-reported pain scores and opioid analgesic dosages in the preoperative, intraoperative, immediate postoperative and 24 hour post procedure intervals were recorded. Results: 22 nurse anesthetists administered sciatic nerve blockade to 48 patients during a 36 month interval. Transition from a nerve stimulator to ultrasound guided sciatic nerve block technique resulted in lower mean pain scores. Patients reporting chronic opioid use were observed to have elevated perioperative opioid analgesic requirements and pain scores compared to opioid naïve patients. Conclusion: Effective analgesia is a prime measure for assessing expertise in regional anesthesia and continuous evaluation of this outcome in everyday practice is proposed.

Propofol infusion syndrome in a super morbidly obese patient (BMI = 75)

Propofol infusion syndrome (PRIS) is a rare but often fatal complication as a result of large doses of propofol infusion (4–5 mg/kg/hr) for a prolonged period (>48 h). It has been reported in both children and adults. Besides large doses of propofol infusion, the risk factors include young age, acute neurological injury, low carbohydrate and high fat intake, exogenous administration of corticosteroid and catecholamine, critical illness, and inborn errors of mitochondrial fatty acid oxidation. PRIS manifestation include presence of metabolic acidosis with a base deficit of more than 10 mmol/l at least on one occasion, rhabdomyolysis or myoglobinuria, acute renal failure, sudden onset of bradycardia resistant to treatment, myocardial failure, and lipemic plasma. The pathophysiology of PRIS may be either direct mitochondrial respiratory chain inhibition or impaired mitochondrial fatty acid metabolism mediated by propofol. We report a case of supermorbidly obese patient who received propofol infusion by total body weight instead of actual body weight and developed PRIS.

Evaluation of a Post Discharge Intervention on 30-Day Re-admission and Emergency Room Use in Patients with Diabetes A Pilot Program

Thesis (Master's)--University of Washington, 2016-06

“Dismissingness always matters”: An examination of tobacco smoking, frequency of visits to healthcare providers, and trust in the provider as potential mediators between attachment style dismissingness and diabetes health status

Thesis (Master's)--University of Washington, 2016-06

Comparing Patient-Centered Medical Home Implementation in Urban and Rural VHA Clinics: Results from the Patient Aligned Care Team (PACT) Initiative

Thesis (Master's)--University of Washington, 2016-06

Self-Reported Fall and Associate Risk Factors Among Korean American Adults In Washington State

Thesis (Master's)--University of Washington, 2016-06

Improving family functioning and child outcome in methadone maintained families: the Parents Under Pressure programme

Twelve families responded to posters displayed in a methadone clinic for inclusion in a pilot study assessing the viability and potential utility of an intensive, multi-component family-focused intervention, the Parents Under Pressure programme. The programme was designed to improve child behaviour, decrease parental stress and improve family functioning in methadone-maintained families by targeting affect regulation, mood, views of self as a parent, drug use and parenting skills. Nine of the families completed the programme delivered in their homes; eight were recontacted at 3 months. Each family reported significant improvements in three domains: parental functioning, parent - child relationship and parental substance use and risk behaviour. In addition to the changes in family functioning, the majority of families reported a decrease in concurrent alcohol use, HIV risk-taking behaviour and maintenance dose of methadone. The families reported high levels of satisfaction with the programme. It is recommended that future studies include independent measures (e.g. behavioural observations) of child outcome and parental functioning. The results were optimistic and provided the impetus to evaluate the treatment programme using a randomized controlled trial.