RESUMEN

Several studies have suggested a correlation between serum vitamin D (VitD) level and multiple sclerosis (MS). MS has a known latitudinal distribution pattern, with greater incidence, prevalence, and mortality rates at higher latitudes. This study aims to assess levels of VitD and serum potassium in subjects with MS and the impact of gender and age as disease risk factors. A cross-sectional case-control study was conducted in a high-altitude region of Saudi Arabia. VitD deficiency was defined as serum 25 (OH)D level of ≤20 ng/mL and insufficiency as a serum level between >20 ng/mL and <30 ng/mL. Two hundred patients with MS volunteered for the study, and 160 healthy participants served as controls. VitD and serum potassium were measured in patients and controls. Student t test and regression analysis were used to analyze the data. The average MS patient age was 37.37 ±â€…10.8 years. Most (73.02%) MS patients suffered from deficient vitamin D, while insufficiency (20-29 ng/mL) was found in 12.17%. Only 6.35% had sufficient vitamin D (30-40 ng/mL). VitD was significantly decreased in MS patients compared to the healthy controls (17.036 vs 25.01 ng/mL, P < .001), while serum potassium was also decreased (4.278 vs 4.329 mmol/L, P = .269). Risk factors found to have a statistically significant association with MS included female gender (odd ratio [OR] = 1.72, 95% confidence interval: 1.016-2.915; P = .044) and patient age < 40 years (OR = 1.04, 95% confidence interval: 1.023-1.054; P = .044). VitD was significantly lower in MS patients. The prevalence of MS was higher among women and younger individuals in a high-altitude population in Saudi Arabia.

Asunto(s)

Altitud , Esclerosis Múltiple , Deficiencia de Vitamina D , Vitamina D , Humanos , Femenino , Masculino , Adulto , Esclerosis Múltiple/sangre , Esclerosis Múltiple/epidemiología , Estudios de Casos y Controles , Factores de Riesgo , Vitamina D/sangre , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/complicaciones , Estudios Transversales , Arabia Saudita/epidemiología , Persona de Mediana Edad , Potasio/sangre , Factores Sexuales , Factores de Edad

RESUMEN

BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).RESULTSMonogenic kidney disorders were identified in 371 patients (6.5%), high-risk APOL1 genotypes in 318 (5.5%), and ACMG SFs in 100 (5.2%). Family history of kidney disease was the strongest predictor of monogenic disorders. After adjustment for traditional risk factors, monogenic kidney disorders were associated with an increased risk of kidney failure (hazard ratio [HR] = 1.72), higher rate of eGFR decline (-3.06 vs. 0.25 mL/min/1.73 m2/year), and lower risk of complete remission (odds ratioNot achieving CR = 5.25). High-risk APOL1 genotypes were associated with an increased risk of kidney failure (HR = 1.67) and faster eGFR decline (-2.28 vs. 0.25 mL/min/1.73 m2), replicating prior findings. ACMG SFs were not associated with personal or family history of associated diseases, but were predicted to impact care in 70% of cases.CONCLUSIONSMonogenic kidney disorders were associated with an increased risk of kidney failure, faster eGFR decline, and lower rates of complete remission, suggesting opportunities for early identification and intervention based on molecular diagnosis.TRIAL REGISTRATIONNA.FUNDINGNational Institute of Diabetes and Digestive and Kidney Diseases grants U24DK100845 (formerly UM1DK100845), U01DK100846 (formerly UM1DK100846), U01DK100876 (formerly UM1DK100876), U01DK100866 (formerly UM1DK100866), U01DK100867 (formerly UM1DK100867), U24DK100845, DK081943, RC2DK116690, 2U01DK100876, 1R01DK136765, 5R01DK082753, and RC2-DK122397; NephCure Kidney International; Department of Defense Research Awards PR201425, W81XWH-16-1-0451, and W81XWH-22-1-0966; National Center for Advancing Translational Sciences grant UL1TR001873; National Library of Medicine grant R01LM013061; National Human Genome Research Institute grant 2U01HG008680.

Asunto(s)

Apolipoproteína L1 , Tasa de Filtración Glomerular , Insuficiencia Renal , Humanos , Masculino , Femenino , Adulto , Apolipoproteína L1/genética , Persona de Mediana Edad , Insuficiencia Renal/genética , Factores de Riesgo , Niño , Estudios Retrospectivos , Adolescente , Estudios Prospectivos , Enfermedades Renales/genética

RESUMEN

BACKGROUND: Deprescribing of potentially inappropriate medications is recommended for older adults and may improve health outcomes and quality of life in persons living with Parkinson disease (PD). Patient attitudes, beliefs, and preferences play a crucial role in the success of deprescribing interventions. We aimed to examine the attitudes and beliefs about medication burden and deprescribing among persons living with PD. METHODS: We administered a survey to participants of Fox Insight, a prospective longitudinal study of persons living with PD. The survey included the revised Patients' Attitudes Towards Deprescribing (rPATD) questionnaire and additional questions about adverse drug effects. We used logistic regression models to explore potential predictors of treatment dissatisfaction and willingness to deprescribe. RESULTS: Of the 4945 rPATD respondents, 31.6% were dissatisfied with their current medications, and 87.1% would be willing to deprescribe medications. Male sex was associated with a greater willingness to deprescribe (adjusted odds ratio [aOR] 1.62, 95% confidence interval [CI] 1.37-1.93). A greater belief that the medication burden was high or that some medications were inappropriate was associated with treatment dissatisfaction (aORs 3.74, 95% CI 3.26-4.29 and 5.61, 95% CI 4.85-6.50), and more willingness to deprescribe (aORs 1.74, 95% CI 1.47-2.06 and 2.87, 95% CI 2.41-3.42). Cognitive impairment was the adverse drug effect participants were most concerned about when prescribed new medications to treat nonmotor symptoms. CONCLUSIONS: Persons with PD are often dissatisfied with their overall medication load and are open to deprescribing. Medications that are associated with cognitive impairment might be prioritized targets for deprescribing interventions in this population.

Asunto(s)

Deprescripciones , Enfermedad de Parkinson , Humanos , Masculino , Femenino , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/psicología , Anciano , Persona de Mediana Edad , Estudios Longitudinales , Estudios Prospectivos , Antiparkinsonianos/uso terapéutico , Conocimientos, Actitudes y Práctica en Salud , Encuestas y Cuestionarios , Anciano de 80 o más Años

RESUMEN

Introduction: Genomic medicine holds transformative potential for personalized nephrology care; however, its clinical integration poses challenges. Automated clinical decision support (CDS) systems in the electronic health record (EHR) offer a promising solution but have shown limited impact. This study aims to glean practical insights into nephrologists' challenges using genomic resources, informing precision nephrology decision support tools. Methods: We conducted an anonymous electronic survey among US nephrologists from January 19, 2021 to May 19, 2021, guided by the Consolidated Framework for Implementation Research. It assessed practice characteristics, genomic resource utilization, attitudes, perceived knowledge, self-efficacy, and factors influencing genetic testing decisions. Survey links were primarily shared with National Kidney Foundation members. Results: We analyzed 319 surveys, with most respondents specializing in adult nephrology. Although respondents generally acknowledged the clinical use of genomic resources, varying levels of perceived knowledge and self-efficacy were evident regarding precision nephrology workflows. Barriers to genetic testing included cost/insurance coverage and limited genomics experience. Conclusion: The study illuminates specific hurdles nephrologists face using genomic resources. The findings are a valuable contribution to genomic implementation research, highlighting the significance of developing tailored interventions to support clinicians in using genomic resources effectively. These findings can guide the future development of CDS systems in the EHR. Addressing unmet informational and workflow support needs can enhance the integration of genomics into clinical practice, advancing personalized nephrology care and improving kidney disease outcomes. Further research should focus on interventions promoting seamless precision nephrology care integration.

RESUMEN

BACKGROUND: Visual impairment is a risk factor for cognitive impairment and hallucinations in older adults, but associations with other neuropsychiatric symptoms (NPS) of dementia have not been examined. METHODS: We analyzed cross-sectional data from the Aging, Demographics, and Memory Study (ADAMS), a nationally representative sample of the US population aged 70+ years. Vision was measured by self-report and using a near card. Dementia was ascertained through cognitive testing with expert consensus, and NPS were screened using the Neuropsychiatric Inventory. We used logistic regression to measure the association between visual impairment and prevalent NPS adjusting for sociodemographic factors and comorbidities. Analyses incorporated sample weights to account for the complex survey design of ADAMS. RESULTS: Of 624 participants with dementia, 332 (53%) had self-reported visual impairment and 193 (31%) had best-corrected acuity of 20/40 or worse. In unadjusted models, self-reported visual impairment was significantly associated with hallucinations (OR 2.88; 95% CI 1.12-7.44), depression (OR 2.79; 95% CI 1.7-4.57), and agitation (OR 1.61; 95% CI 1.05-2.48). Reduced visual acuity was associated with hallucinations (OR 10.13; 95% CI 2.93-34.98), psychosis (OR 6.69, 95% CI 2.53-17.7), and mania (OR 5.92, 95% CI 1.77-19.82). However, these associations did not remain significant after covariate adjustment. CONCLUSIONS: Visual impairment was associated with hallucinations, depression, agitation, psychosis, and mania in patients with dementia, but at least some of this relationship is explained by age, comorbidities, and other factors.

Asunto(s)

Pase de Guardia , Humanos , Pase de Guardia/normas , Seguridad del Paciente

RESUMEN

BACKGROUND: Despite advances in treatment, pancreatic cancer frequently has a low survival rate due to its advanced-stage diagnosis. Treatment focuses on prolonging survival and maintaining quality of life. This study investigates the characteristics associated with survival in advanced pancreatic cancer patients treated at a single academic cancer center in Najran, Saudi Arabia. METHOD: A retrospective chart review study covering the period January 1, 2015, and December 31, 2023, involved 80 adult patients with pathologically confirmed pancreatic cancer (ductal adenocarcinoma) at King Khalid Hospital in Najran, Saudi Arabia. Clinicopathological characteristics, therapy, response, and survival outcomes were all gathered and analyzed. The chi-squared test, Kaplan-Meier, and Cox proportional hazards method with hazard ratios (HR) and 95% confidence intervals (CI) were used for statistical analysis. RESULT: The mean age was 65.7±14.1 years and 54 (67.5%) cases were male. The main symptom was abdominal pain (n=54, 67.5%), while jaundice was presented in 17 (21.2%) of cases. The baseline serum carbohydrate antigen 19-9 (CA 19-9) level varied among cases, with 35 (43.8%) having normal levels. The majority of cases (n=59, 73.8%) had distant metastases at the initial presentation, while 12 cases (15%) had localized disease (resectable), and 22 (27.5%) were locally advanced at the first presentation. The most commonly reported pathologic grade was poorly differentiated ductal adenocarcinoma in 39 (48.8%). FOLFIRINOX was used as first-line chemotherapy in 54 (67.5%) cases, while gemcitabine alone was used in 15 (18.8%) cases. First-line chemotherapy resulted in progressive disease in 30 (37.5%), stable disease in 30 (37.5%), and partial response in 14 (17.5%). With a mean follow-up time of 14.8±8.6 months, 57 (71.2%) were dead, where the main cause of death was disease progression (n=51, 89.5%). The median overall survival was 13.5 months, with a 12-month survival rate of 56% and a 36-month survival rate of 17%. The median cancer-specific survival was 16 months (95% CI: 13-22 months). The 12-month median cancer-specific survival was 61% (95% CI: 51-73%), and the 36-month median cancer-specific survival was 19% (95% CI: 10-34%). In univariate analysis, initial metastasis presentation (HR: 35.46; 95% CI: 4.90-256.83, p<0.001), poor Eastern Cooperative Oncology Group Performance Status (ECOG-PS) (3-4) (HR: 2.34; 95% CI:1.34-4.09, p=0.003), and presence of multiple metastases (HR: 1.33; 95% CI: 1.09-1.62, p=0.004) were associated with worsened survival. Patients who received the first chemotherapy were associated with better survival (HR: 0.53; 95% CI: 0.29-0.98, p=0.043). Furthermore, the response rate in patients who received FOLFIRINOX was better than that of those who received gemcitabine alone, which was statistically significant (p=0.002). CONCLUSION: Our study showed that initial metastatic presentation, poor ECOG-PS, and the occurrence of numerous metastases were all linked with poor survival of patients with pancreatic adenocarcinoma. Additionally, FOLFIRINOX as a first-line treatment showed better survival rates than gemcitabine alone. Raising awareness among healthcare providers on the alarming signs of pancreatic cancer and the introduction of personalized oncology might improve the outcome of this fatal malignancy.

RESUMEN

A digitizer is considered one of the fundamental components of an earthquake monitoring system. In this paper, we design and implement a high accuracy seismic digitizer. The implemented digitizer consists of several blocks, i.e., the analog-to-digital converter (ADC), GPS receiver, and microprocessor. Three finite impulse response (FIR) filters are used to decimate the sampling rate of the input seismic data according to user needs. A graphical user interface (GUI) has been designed for enabling the user to monitor the seismic waveform in real time, and process and adjust the parameters of the acquisition unit. The system casing is designed to resist harsh conditions of the environment. The prototype can represent the three component sensors data in the standard MiniSEED format. The digitizer stream seismic data from the remote station to the main center is based on TCP/IP connection. This protocol ensures data transmission without any losses as long as the data still exist in the ring buffer. The prototype was calibrated by real field testing. The prototype digitizer is integrated with the Egyptian National Seismic Network (ENSN), where a commercial instrument is already installed. Case studies shows that, for the same event, the prototype station improves the solution of the ENSN by giving accurate timing and seismic event parameters. Field test results shows that the event arrival time and the amplitude are approximately the same between the prototype digitizer and the calibrated digitizer. Furthermore, the frequency contents are similar between the two digitizers. Therefore, the prototype digitizer captures the main seismic parameters accurately, irrespective of noise existence.

RESUMEN

BACKGROUND: High-dimensional propensity scoring (HDPS) is a method for empirically identifying potential confounders within large healthcare databases such as administrative claims data. However, this method has not yet been applied to large national health surveys such as the National Health and Aging Trends Study (NHATS), an ongoing nationally representative survey of older adults in the United States and important resource in gerontology research. METHODS: In this Research Practice article, we present an overview of HDPS and describe the specific data transformation steps and analytic considerations needed to apply it to national health surveys. We applied HDPS within NHATS to investigate the association between self-reported visual difficulty and incident dementia, comparing HDPS to conventional confounder selection methods. RESULTS: Among 7 207 dementia-free NHATS Wave 1 respondents, 528 (7.3%) had self-reported visual difficulty. In an unadjusted discrete time proportional hazards model accounting for the complex survey design of NHATS, self-reported visual difficulty was strongly associated with incident dementia (odds ratio [OR] 2.34, 95% confidence interval [CI]: 1.95-2.81). After adjustment for standard investigator-selected covariates via inverse probability weighting, the magnitude of this association decreased, but evidence of an association remained (OR 1.44, 95% CI: 1.11-1.85). Adding 75 HDPS-prioritized variables to the investigator-selected propensity score model resulted in further attenuation of the association between visual impairment and dementia (OR 0.94, 95% CI: 0.70-1.23). CONCLUSIONS: HDPS can be successfully applied to national health surveys such as NHATS and may improve confounder adjustment. We hope developing this framework will encourage future consideration of HDPS in this setting.

Asunto(s)

Demencia , Puntaje de Propensión , Humanos , Estados Unidos/epidemiología , Anciano , Masculino , Femenino , Demencia/epidemiología , Encuestas Epidemiológicas , Envejecimiento , Anciano de 80 o más Años , Trastornos de la Visión/epidemiología , Factores de Confusión Epidemiológicos , Autoinforme

RESUMEN

PURPOSE: Dementia is common among patients with primary open angle glaucoma (POAG) and neovascular age-related macular degeneration (nAMD). This study compares visit frequency, diagnostic test utilization, and treatment patterns for POAG and nAMD among persons with vs. without dementia. METHODS: Optum's de-identified Clinformatics® Data Mart Database (January 1, 2000-June 30, 2022) was used for this study. Two cohorts were created from newly diagnosed POAG or nAMD patients. Within each cohort, an exposure cohort was created of newly diagnosed dementia patients. The primary outcome was the number of visits to an eye care provider. Secondary analyses for the POAG cohort assessed the number of visual field tests, optical coherence tomography (OCT), and glaucoma medication prescription coverage. The secondary analysis for the nAMD cohort included the number of injections performed. Poisson regression was used to determine the relative rates of outcomes. RESULTS: POAG patients with dementia had reduced rates of eye care visits (RR 0.76, 95% CI: 0.75-0.77), lower rates of testing utilization for visual fields (RR 0.66, 95% CI: 0.63-0.68) and OCT (RR 0.67, 95% CI: 0.64-0.69), and a lower rate of glaucoma prescription medication coverage (RR 0.83, 95% CI: 0.83-0.83). nAMD patients with dementia had reduced rates of eye care visits (RR 0.74, 95% CI: 0.70-0.79) and received fewer intravitreal injections (RR 0.64, 95% CI: 0.58-0.69) than those without dementia. CONCLUSIONS: POAG and nAMD patients with dementia obtained less eye care and less monitoring and treatment of their disease. These findings suggest that this population may be vulnerable to gaps in ophthalmic care.

RESUMEN

BACKGROUND: Visual impairment (VI) is associated with dementia and other neuropsychiatric outcomes, but previous studies have not considered genetic sources of confounding or effect modification. METHODS: We analysed data from the Health and Retirement Study, an ongoing nationally representative survey of older US adults, a subset of whom underwent genetic testing from 2006 to 2012 (n = 13 465). Using discrete time proportional hazards models and generalised estimating equations, we measured the association between VI and dementia, depression and hallucinations adjusting for demographics and comorbidities, ancestry-specific principal components and polygenic risk scores (PRS) for Alzheimer's disease, major depressive disorder or schizophrenia. Effect modification was assessed using VI-PRS interaction terms and stratified analyses. RESULTS: VI was associated with dementia, depression and hallucinations after adjusting polygenic risk and other confounders. There was no VI-PRS interaction for dementia or depression. However, the association between VI and hallucinations varied by genetic risk of schizophrenia. Within the bottom four quintiles of schizophrenia PRS, VI was not associated with hallucinations among White (OR 1.16, 95% CI: 0.87-1.55) or Black participants (OR 0.96, 95% CI: 0.49-1.89). In contrast, VI was strongly associated with hallucinations among White (OR 2.08, 95% CI: 1.17-3.71) and Black (OR 10.63, 95% CI: 1.74-65.03) participants in the top quintile of schizophrenia PRS. CONCLUSIONS: The association between VI and neuropsychiatric outcomes is not explained by shared genetic risk factors, and there is a significant interaction between VI and polygenic risk of hallucinations in older adults.

Asunto(s)

Demencia , Predisposición Genética a la Enfermedad , Alucinaciones , Trastornos Psicóticos , Trastornos de la Visión , Humanos , Masculino , Femenino , Anciano , Demencia/genética , Demencia/epidemiología , Demencia/psicología , Demencia/diagnóstico , Factores de Riesgo , Estados Unidos/epidemiología , Trastornos de la Visión/genética , Trastornos de la Visión/epidemiología , Trastornos de la Visión/psicología , Alucinaciones/genética , Alucinaciones/epidemiología , Alucinaciones/psicología , Alucinaciones/diagnóstico , Trastornos Psicóticos/genética , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/psicología , Herencia Multifactorial , Medición de Riesgo , Factores de Edad , Persona de Mediana Edad , Anciano de 80 o más Años , Esquizofrenia/genética , Esquizofrenia/epidemiología

RESUMEN

Background and Objectives: In 2016, a randomized controlled trial demonstrated the clinical efficacy of trans-sternal thymectomy for patients with non-thymomatous myasthenia gravis (MG). Whether large-scale changes occurred in clinical practice after this trial is unknown. Methods: We performed a retrospective longitudinal cross-sectional analysis using National Inpatient Sample (NIS) data from 2012 to 2019. Our study included hospitalized adults at least 18 years of age diagnosed with MG without an associated thymoma. We used joinpoint regression to analyze annual trends in thymectomy volume and surgical approach (minimally invasive vs trans-sternal) from 2012 to 2019. Using logistic regression models, we examined patient and hospital-level factors that may have influenced whether thymectomy was performed, such as age, sex, race, insurance payor, hospital size and teaching status, and Elixhauser Comorbidity Index. Sampling weights were applied to account for the complex survey design of NIS. Results: The total number of thymectomy procedures increased by 69.8% per year (95% CI 40.1-105.8) between 2012 and 2019. Trans-sternal thymectomies increased by 62.8% per year (95% CI 35.8-95.2) and minimally invasive thymectomies by 83.7% per year (95% CI 38.1-144.3). Thymectomies were significantly more likely to occur in 2017-2019 compared with 2012-2016 (OR 1.93, 95% CI 1.62-2.31). In a multivariable regression model, several factors decreased the odds of patients with MG having a thymectomy: older age, Black race (OR 0.62, 95% CI 0.49-0.77), female (OR 0.73, 95% CI 0.63-0.86), and higher Elixhauser Comorbidity Index. Patients in medium (OR 1.82, 95% CI 1.30-2.55) or large (OR 2.81, 95% CI 2.07-3.82) size and urban teaching hospitals (OR 6.09, 95% CI 2.65-13.97) were more likely to undergo thymectomy. Discussion: Thymectomy is being performed more frequently for non-thymomatous MG, especially after 2016 after publication of a positive phase III clinical trial. There are several disparities in thymectomy utilization that warrant further attention.

RESUMEN

INTRODUCTION: Fine needle aspiration cytology (FNAC) for thyroid nodules has a high diagnostic accuracy, according to several studies worldwide. Patients who experienced preoperative FNAC had more optimal surgical treatment than others who did not perform FNAC. Therefore, achieving an accurate FNAC procedure appears to be an important tool for the proper management of thyroid nodules. We aimed to study the accuracy and challenges of the thyroid FNAC diagnostic tool in the Al-Baha region, Kingdom of Saudi Arabia. METHODS: The study involves 52 patients with thyroid nodules who underwent preoperative FNAC and postoperative histopathology with the same surgery and pathology team at Al-Baha region in 2022-2023. RESULTS AND CONCLUSION: The mean age of the included patients was 47.7 years, with a female predominance. The diagnostic accuracy was 90%, and the main cause of inaccurate diagnosis was processing challenges, where the majority of cases were taken on the palpation-only technique, a few cases were ultrasound-guided, and the only technique used in the laboratory was conventional smears. The applied interrater reliability Cohen kappa coefficient (κ) for the clinical-histopathological agreement was "moderate agreement". We recommend using and evaluating more cytological techniques in addition to the currently used conventional smears in pathology laboratories to enhance the efficacy of the FNAC diagnosis of thyroid lesions.

RESUMEN

PURPOSE OF REVIEW: To review the literature on visual dysfunction in dementia with Lewy bodies (DLB), including its mechanisms and clinical implications. RECENT FINDINGS: Recent studies have explored novel aspects of visual dysfunction in DLB, including visual texture agnosia, mental rotation of 3-dimensional drawn objects, and reading fragmented letters. Recent studies have shown parietal and occipital hypoperfusion correlating with impaired visuoconstruction performance. While visual dysfunction in clinically manifest DLB is well recognized, recent work has focused on prodromal or mild cognitive impairment (MCI) due to Lewy body pathology with mixed results. Advances in retinal imaging have recently led to the identification of abnormalities such as parafoveal thinning in DLB. Patients with DLB experience impairment in color perception, form and object identification, space and motion perception, visuoconstruction tasks, and illusions in association with visual cortex and network dysfunction. These symptoms are associated with visual hallucinations, driving impairment, falls, and other negative outcomes.

Asunto(s)

Enfermedad por Cuerpos de Lewy , Trastornos de la Visión , Humanos , Enfermedad por Cuerpos de Lewy/fisiopatología , Enfermedad por Cuerpos de Lewy/complicaciones , Trastornos de la Visión/etiología , Trastornos de la Visión/fisiopatología , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/etiología , Percepción Visual/fisiología

RESUMEN

BACKGROUND: Gastrointestinal (GI) dysfunction is a common non-motor feature of Parkinson disease (PD). GI symptoms may start years before the onset of motor symptoms and impair quality of life. Robust clinical trial data is lacking to guide screening, diagnosis and treatment of GI dysfunction in PD. OBJECTIVE: To develop consensus statements on screening, diagnosis, and treatment of GI dysfunction in PD. METHODS: The application of a modified Delphi panel allowed for the synthesis of expert opinions into clinical statements. Consensus was predefined as a level of agreement of 100 % for each item. Five virtual Delphi rounds were held. Two movement disorders neurologists reviewed the literature on GI dysfunction in PD and developed draft statements based on the literature review. Draft statements were distributed among the panel that included five movement disorder neurologists and two gastroenterologists, both experts in GI dysmotility and its impact on PD symptoms. All members reviewed the statements and references in advance of the virtual meetings. In the virtual meetings, each statement was discussed, edited, and a vote was conducted. If there was not 100 % consensus, further discussions and modifications ensued until there was consensus. RESULTS: Statements were developed for screening, diagnosis, and treatment of common GI symptoms in PD and were organized by anatomic segments: oral cavity and esophagus, stomach, small intestine, and colon and anorectum. CONCLUSIONS: These consensus recommendations offer a practical framework for the diagnosis and treatment of GI dysfunction in PD.

Asunto(s)

Consenso , Técnica Delphi , Enfermedades Gastrointestinales , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Enfermedad de Parkinson/diagnóstico , Enfermedades Gastrointestinales/etiología , Enfermedades Gastrointestinales/terapia , Enfermedades Gastrointestinales/diagnóstico

RESUMEN

BACKGROUND: Administrative claims have been used to study the incidence and outcomes of nonarteritic ischemic optic neuropathy (NAION), but the validity of International Classification of Diseases (ICD)-10 codes for identifying NAION has not been examined. METHODS: We identified patients at 3 academic centers who received ≥1 ICD-10 code for NAION in 2018. We abstracted the final diagnosis from clinical documentation and recorded the number of visits with an NAION diagnosis code. We calculated positive predictive value (PPV) for the overall sample and stratified by subspecialty and the number of diagnosis codes. For patients with ophthalmology or neuro-ophthalmology visit data, we recorded presenting symptoms, examination findings, and laboratory data and calculated PPV relative to case definitions of NAION that incorporated sudden onset of symptoms, optic disc edema, afferent pupillary defect, and other characteristics. RESULTS: Among 161 patients, PPV for ≥1 ICD-10 code was 74.5% (95% CI: 67.2%-80.7%). PPV was similar when restricted to patients who had visited an ophthalmologist (75.8%, 95% CI: 68.4%-82.0%) but increased to 86.8% when restricted to those who had visited neuro-ophthalmologists (95% CI: 79.2%-91.9%). Of 113 patients with >1 ICD-10 code and complete examination data, 37 (32.7%) had documented sudden onset, optic disc swelling, and an afferent pupillary defect (95% CI: 24.7%-42.0%). Of the 76 patients who did not meet these criteria, 54 (71.0%) still received a final clinical diagnosis of NAION; for most (41/54, 75.9%), this discrepancy was due to lack of documented optic disc edema. CONCLUSIONS: The validity of ICD-10 codes for NAION in administrative claims data is high, particularly when combined with provider specialty.

Asunto(s)

Clasificación Internacional de Enfermedades , Neuropatía Óptica Isquémica , Humanos , Neuropatía Óptica Isquémica/diagnóstico , Neuropatía Óptica Isquémica/epidemiología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Codificación Clínica/normas , Incidencia , Reproducibilidad de los Resultados , Estados Unidos/epidemiología

RESUMEN

Goserelin is an effective anticancer drug, but naturally causes several side effects. Hence the determination of this drug in biological samples, plays a key role in evaluating its effects and side effects. The current studies have concentrated on monitoring Goserelin using an easy and quick DNA biosensor for the first time. In this study, copper(II) oxide nanoparticles were created upon the surface of multiwalled carbon nanotubes (CuO/MWCNTs) as a conducting mediator. The modified pencil graphite electrode (ds-DNA/PA/CuO/MWCNTs/PGE) has been modified with the help of polyaniline (PA), ds-DNA, and CuO/MWCNTs nanocomposite. Additionally, the issue with the bio-electroanalytical guanine oxidation signal in relation to ds-DNA at the surface of PA/CuO/MWCNTs/PGE has been examined to determination Goserelin for the first time. It also, established a strong conductive condition to determination Goserelin in nanomolar concentration. Thus, Goserelin's determining, however, has a 0.21 nM detection limit and a 1.0 nM-110.0 µM linear dynamic range according to differential pulse voltammograms (DPV) of ds-DNA/PA/CuO/MWCNTs/PGE. Furthermore, the molecular docking investigation highlighted that Goserelin is able to bind ds-DNA preferentially and supported the findings of the experiments. The determining of Goserelin in real samples has been effectively accomplished in the last phase using ds-DNA/PA/CuO/MWCNTs/PGE.

RESUMEN

Introduction  The landscape of medical education is constantly evolving, with innovative assessment methods being integrated to better align with the requirements of modern healthcare education. Among these, open-book exams (OBEs) represent a significant shift from traditional closed-book exams (CBEs), promising to enhance learning outcomes and better evaluate students' understanding of medical concepts. This study aims to explore the multifaceted impact of OBEs on medical students, including their perceptions, study behaviors, stress levels, and the cultivation of critical thinking and self-directed learning skills. Methodology  This is a cross-sectional study, which utilized a mixed-methods approach, conducted at Al Baha University's College of Medicine, to explore the impact of OBEs on self-directed learning among 129 medical students over a 15-day period in October 2023. The research combined quantitative data from online questionnaires, assessing students' experiences, stress, understanding, and study strategies, with qualitative insights from in-depth interviews and open-ended survey questions. Participants were final-year medical students with prior experience in OBEs, selected to minimize bias. Data analysis was performed using Statistical Product and Service Solutions (SPSS, version 25; IBM SPSS Statistics for Windows, Armonk), focusing on descriptive and inferential statistics, while qualitative data underwent thematic analysis to identify patterns in students' perceptions of self-directed learning opportunities. The study was ethically approved, ensuring participant confidentiality and informed consent. Result  Regarding the medical student perspectives on OBEs, the study revealed that the majority of medical students strongly perceive OBEs as less stressful (77, 59.69%) and easier to prepare for (79, 61.24%) compared to traditional exams. A significant proportion also believe OBEs accurately assess their comprehension (106, 82.17%) and prefer them as a mode of assessment (106, 82.17%). Furthermore, most students (87, 67.44%) reported performing better on OBEs compared to CBEs. Regarding the assessment of self-directed learning using the OBE method, students predominantly utilized highlighting important points (70, 54.26%) as a preparation method for OBEs. A large majority (85, 65.89%) considered OBEs as a fair assessment of self-directed learning and believed that they encourage self-directed learning (114, 88.37%). Conclusion  OBEs represent a promising direction for medical education, offering a way to better prepare students for the complexities of real-world medical practice. Future strategies should include not only the refinement of OBE methodologies but also the integration of practice opportunities that enable students to hone their skills in applying knowledge effectively.

RESUMEN

PURPOSE: Self-reported visual difficulty is consistently associated with dementia and other neuropsychiatric outcomes, but studies of specific age-related eye diseases have yielded conflicting results. METHODS: We conducted a retrospective cohort study using data from The National Health and Aging Trends Study, an ongoing nationally representative survey of older U.S. adults (n = 10,089). All subjects are screened for self-reported visual difficulty annually. Using linked Medicare claims data, we identified subjects with age-related macular degeneration (AMD), primary open-angle glaucoma (POAG), diabetic retinopathy, and cataract. For each condition, controls with complete Medicare eligibility and at least one eye care encounter were selected. We used semiparametric discrete time proportional hazards models to measure associations with incident dementia, and generalized estimating equations to examine longitudinal associations with depression, anxiety, and hallucinations, adjusting for baseline demographics and time-varying comorbidities. RESULTS: Self-reported visual difficulty was associated with dementia (HR 1.16, 95% CI: 1.00-1.34), depression (OR 1.14, 95% CI: 1.04-1.26), anxiety (OR 1.17, 95% CI: 1.06-1.29), and hallucinations (OR 1.54, 95% CI: 1.29-1.84). Diabetic retinopathy was associated with depression (OR 1.31, 95% CI: 1.05-1.64), and cataracts were associated with a lower risk of depression (OR 0.84, 95% CI: 0.74-0.95) and anxiety (OR 0.86, 95% CI: 0.75-0.99). There were no other associations between age-related eye disease and neuropsychiatric outcomes. CONCLUSION: Self-reported visual difficulty is associated with dementia and other neuropsychiatric outcomes to a greater degree than age-related eye disease. These findings highlight the distinction between self-reported vision and clinically diagnosed eye disease with regard to health outcomes in older adults.

RESUMEN

Accurate estimation of population allele frequency (AF) is crucial for gene discovery and genetic diagnostics. However, determining AF for frameshift-inducing small insertions and deletions (indels) faces challenges due to discrepancies in mapping and variant calling methods. Here, we propose an innovative approach to assess indel AF. We developed CRAFTS-indels (Calculating Regional Allele Frequency Targeting Small indels), an algorithm that combines AF of distinct indels within a given region and provides "regional AF" (rAF). We tested and validated CRAFTS-indels using three independent datasets: gnomAD v2 (n=125,748 samples), an internal dataset (IGM; n=39,367), and the UK BioBank (UKBB; n=469,835). By comparing rAF against standard AF, we identified rare indels with rAF exceeding standard AF (sAF≤10-4 and rAF>10-4) as "rAF-hi" indels. Notably, a high percentage of rare indels were "rAF-hi", with a higher proportion in gnomAD v2 (11-20%) and IGM (11-22%) compared to the UKBB (5-9% depending on the CRAFTS-indels' parameters). Analysis of the overlap of regions based on their rAF with low complexity regions and with ClinVar classification supported the pertinence of rAF. Using the internal dataset, we illustrated the utility of CRAFTS-indel in the analysis of de novo variants and the potential negative impact of rAF-hi indels in gene discovery. In summary, annotation of indels with cohort specific rAF can be used to handle some of the limitations of current annotation pipelines and facilitate detection of novel gene disease associations. CRAFTS-indels offers a user-friendly approach to providing rAF annotation. It can be integrated into public databases such as gnomAD, UKBB and used by ClinVar to revise indel classifications.

Asunto(s)

Frecuencia de los Genes , Mutación INDEL , Humanos , Algoritmos