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1.
Medicine (Baltimore) ; 103(28): e38938, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38996141

RESUMO

The ENDOANGEL (EN) computer-assisted detection technique has emerged as a promising tool for enhancing the detection rate of colorectal adenomas during colonoscopies. However, its efficacy in identifying missed adenomas during subsequent colonoscopies remains unclear. Thus, we herein aimed to compare the adenoma miss rate (AMR) between EN-assisted and standard colonoscopies. Data from patients who underwent a second colonoscopy (EN-assisted or standard) within 6 months between September 2022 and May 2023 were analyzed. The EN-assisted group exhibited a significantly higher AMR (24.3% vs 11.9%, P = .005) than the standard group. After adjusting for potential confounders, multivariable analysis revealed that the EN-assisted group had a better ability to detect missed adenomas than the standard group (odds ratio = 2.89; 95% confidence interval = 1.14-7.80, P = .029). These findings suggest that EN-assisted colonoscopy represents a valuable advancement in improving AMR compared with standard colonoscopy. The integration of EN-assisted colonoscopy into routine clinical practice may offer significant benefits to patients requiring hospital resection of lesions following adenoma detection during their first colonoscopy.


Assuntos
Adenoma , Colonoscopia , Neoplasias Colorretais , Humanos , Colonoscopia/métodos , Neoplasias Colorretais/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Adenoma/diagnóstico , Adenoma/diagnóstico por imagem , Pessoa de Meia-Idade , Idoso , Diagnóstico Ausente/estatística & dados numéricos , Diagnóstico por Computador/métodos , Adulto
2.
Int J Mycobacteriol ; 13(2): 126-132, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38916381

RESUMO

Tuberculosis (TB) is the leading infectious cause of mortality in sub-Saharan Africa (SSA); the high prevalence of TB in this region is due to human immunodeficiency virus (HIV)-coinfection. Despite the advent of modalities to diagnose TB, undiagnosed TB-related deaths among HIV-infected patients remain significantly high. This systematic review aims at characterizing missed TB cases from postmortem studies. This review informs on the burden of TB missed diagnosis and highlights the need of improving TB case-finding strategies, especially among the high-risk groups and early TB therapy initiation to keeping in with the World Health Organization's end TB strategy. We searched PubMed, Cochrane, Web of Science, and African journals online for studies that looked into missed TB cases following postmortem using the following key terms: postmortem, TB diagnosis, and HIV; we included cross-sectional and cohorts from 1980 in the English language that were carried out in SSA among adults' population. Authors used the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines for reporting, the quality of the included studies was assessed using the Newcastle-Ottawa Scale for observational studies, and STATA 17.0 software was used for analysis. This study was registered in the International Prospective Register of Systematic Reviews with registration number CRD42024507515. The combined prevalence of postmortem missed TB diagnosis among the 6025 participants was 27.13% (95% confidence interval [CI] =14.52-41.89), with a high level of heterogeneity at 98.65% (P < 0.001). The prevalence varied significantly across the included studies, ranging from 1.21% (95% CI = 0.93-1.59) in the general population to 66.67% (95% CI = 50.98-79.37) in people living with HIV (PLWHIV). This current literature suggests that SSA is a region with a high prevalence of missed TB cases but with significant variations between countries. In addition, this study confirms a high number of missed TB infections within the PLWHIV. These results highlight the immediate need for targeted screening and diagnosis strategies and relevant policies.


Assuntos
Autopsia , Infecções por HIV , Tuberculose , Humanos , Infecções por HIV/complicações , África Subsaariana/epidemiologia , Tuberculose/epidemiologia , Tuberculose/diagnóstico , Adulto , Coinfecção/epidemiologia , Coinfecção/diagnóstico , Diagnóstico Ausente/estatística & dados numéricos , Prevalência
3.
BMJ Case Rep ; 17(6)2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38834306

RESUMO

Poppers maculopathy is a complication of alkyl nitrate (poppers) inhalation. It presents with non-specific symptoms and variable signs, which can make it difficult to diagnose. We present a case of coexisting cataract and poppers maculopathy in a patient. He had vague visual symptoms that were attributed entirely to his cataract and he went on to have cataract surgery. Suboptimal postoperative visual acuity and normal clinical examination triggered further investigation with spectral-domain optical coherence tomography (SD-OCT), after which poppers maculopathy was diagnosed. We highlight the importance of performing OCT in the preoperative assessment of a cataract patient, especially where the cataract is mild and may not fully account for symptoms. The patient showed complete visual recovery on drug cessation despite ongoing maculopathy on OCT scans.


Assuntos
Extração de Catarata , Catarata , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Masculino , Catarata/induzido quimicamente , Extração de Catarata/efeitos adversos , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/diagnóstico , Pessoa de Meia-Idade , Acuidade Visual , Nitratos/efeitos adversos , Diagnóstico Ausente , Administração por Inalação
4.
World Neurosurg ; 187: e1083-e1088, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38759788

RESUMO

BACKGROUND/OBJECTIVE: Neurosurgery emphasizes the criticality of accurate differential diagnoses, with diagnostic delays posing significant health and economic challenges. As large language models (LLMs) emerge as transformative tools in healthcare, this study seeks to elucidate their role in assisting neurosurgeons with the differential diagnosis process, especially during preliminary consultations. METHODS: This study employed 3 chat-based LLMs, ChatGPT (versions 3.5 and 4.0), Perplexity AI, and Bard AI, to evaluate their diagnostic accuracy. Each LLM was prompted using clinical vignettes, and their responses were recorded to generate differential diagnoses for 20 common and uncommon neurosurgical disorders. Disease-specific prompts were crafted using Dynamed, a clinical reference tool. The accuracy of the LLMs was determined based on their ability to identify the target disease within their top differential diagnoses correctly. RESULTS: For the initial differential, ChatGPT 3.5 achieved an accuracy of 52.63%, while ChatGPT 4.0 performed slightly better at 53.68%. Perplexity AI and Bard AI demonstrated 40.00% and 29.47% accuracy, respectively. As the number of considered differentials increased from 2 to 5, ChatGPT 3.5 reached its peak accuracy of 77.89% for the top 5 differentials. Bard AI and Perplexity AI had varied performances, with Bard AI improving in the top 5 differentials at 62.11%. On a disease-specific note, the LLMs excelled in diagnosing conditions like epilepsy and cervical spine stenosis but faced challenges with more complex diseases such as Moyamoya disease and amyotrophic lateral sclerosis. CONCLUSIONS: LLMs showcase the potential to enhance diagnostic accuracy and decrease the incidence of missed diagnoses in neurosurgery.


Assuntos
Inteligência Artificial , Diagnóstico Ausente , Neurocirurgiões , Humanos , Diagnóstico Diferencial , Neurocirurgia , Erros de Diagnóstico
5.
Cancer Prev Res (Phila) ; 17(5): 193-195, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38693900

RESUMO

Improved cancer screening and treatment programs have led to an increased survivorship of patients with cancer, but consequently also to the rise in number of individuals with multiple primary tumors (MPT). Germline testing is the first approach investigating the cause of MPT, as a positive result provides a diagnosis and proper clinical management to the affected individual and their family. Negative or inconclusive genetic results could suggest non-genetic causes, but are negative genetic results truly negative? Herein, we discuss the potential sources of missed genetic causes and highlight the trove of knowledge MPT can provide. See related article by Borja et al., p. 209.


Assuntos
Predisposição Genética para Doença , Testes Genéticos , Neoplasias Primárias Múltiplas , Humanos , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/diagnóstico , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Detecção Precoce de Câncer/métodos , Diagnóstico Ausente/estatística & dados numéricos
6.
Int J Obes (Lond) ; 48(7): 1003-1010, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38649487

RESUMO

OBJECTIVE: To investigate whether individuals with an elevated BMI measurement, for whom a diagnosis of overweight or obesity (OW/OB) is not recorded, are less likely to be offered clinical care for obesity compared to those with a recorded diagnosis. SUBJECTS: A retrospective cohort study using the electronic medical record database of Maccabi Healthcare Services (MHS) in Israel. Included were 200,000 adults with BMI ≥ 25 kg/m2 measurement recorded during a primary care visit between 2014 and 2020, and no prior diagnosis of OW/OB or related co-morbidities. METHODS: The relationships between a recorded diagnosis of OW/OB and two composite outcomes: 1. A composite of referrals to screening tests for metabolic complications; 2. A composite of weight loss intervention and follow up, were analyzed using multivariate logistic regression models. RESULTS: In only 18% of individuals, a diagnosis of OW/OB was recorded. After adjusting for multiple potential confounding factors, individuals who received a recorded diagnosis were 18% more likely to be offered an evaluation for obesity-related metabolic complication, (OR 1.18, 95% CI 1.15-1.21, p < 0.001), and almost twice as likely to be offered intervention and follow up for their excess body weight (OR 1.84, 95% CI 1.76-1.94, p < 0.001) compared to individuals with missed diagnosis. These results persisted after adjusting for inter-physician variability. In addition, male sex, older age, and Arab sector were all associated with lower rates of weight loss intervention and follow up, while young individuals were less likely to be screened for metabolic complications. CONCLUSION: Beyond BMI measurement, a recorded diagnosis of OW/OB is associated with statistically and clinically significant higher rates of performance of obesity care and intervention. Undiagnosed OW/OB presents a significant clinical opportunity, as recording a diagnosis of OW/OB would predict improved patient access to obesity healthcare and improved clinical outcomes.


Assuntos
Diagnóstico Ausente , Obesidade , Atenção Primária à Saúde , Humanos , Masculino , Feminino , Atenção Primária à Saúde/estatística & dados numéricos , Obesidade/epidemiologia , Obesidade/terapia , Obesidade/diagnóstico , Obesidade/complicações , Estudos Retrospectivos , Pessoa de Meia-Idade , Israel/epidemiologia , Adulto , Diagnóstico Ausente/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Índice de Massa Corporal , Idoso
7.
Osteoporos Int ; 35(7): 1165-1171, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38561550

RESUMO

Joint replacement surgery is common in older adults, leading to increasing periprosthetic fracture (PPFx) occurrence. We reviewed all PPFx seen over a 4-year period at an academic hospital. Clinical osteoporosis could be diagnosed based on existing data in 104 (67%) at the time of PPFx. Periprosthetic fractures are generally osteoporosis-related. PURPOSE: Periprosthetic fractures (PPFx) cause morbidity, mortality, and cost. This study's purpose was to describe osteoporosis-related data available at the time of PPFx. METHODS: The electronic medical record (EMR) of PPFx patients seen over 4 years in a university orthopedic practice were reviewed. Demographic data and osteoporosis relevant parameters were collected. Prior DXA studies were reviewed, and L1 Hounsfield unit (HU) measurements were performed on CT scans obtained within 2 years before PPFx. Clinical osteoporosis was defined as prior diagnosis, prescribed osteoporosis treatment, T-score ≤ - 2.5, HU ≤ 100, or prior fracture. RESULTS: Records of 156 PPFx patients (115 F/41 M), mean (SD) age 75.4 (11.9), were reviewed. Almost all 153/156 (98%) of these fractures were femoral. Falls caused 139 (89%); 12 (8%) were spontaneous. Mean time post-arthroplasty was 7.9 (6.3) years. Prior fragility fracture(s) occurred in 72 (46%); 14 were PPFx. Osteoporosis was previously diagnosed in 45 (29%) and medications prescribed in 41 (26%). Prior to PPFx, DXA data were available in 62, mean (SD) lowest T-score was - 1.9 (0.9) and was ≤ - 2.5 in 19. CT data were available in 46; mean (SD) L1 HU was 79.0 (29.4) and was ≤ 100 in 35. Based on existing data, clinical osteoporosis could have been diagnosed in 104 (67%) at the time of PPFx. CONCLUSION: Periprosthetic fractures are osteoporosis-related. They occur in older adults, often female, and result from falls; BMD, when assessed, is low. Data available at the time of PPFx often allows osteoporosis diagnosis; this should prompt evaluation and pharmacologic treatment consideration.


Assuntos
Absorciometria de Fóton , Osteoporose , Fraturas por Osteoporose , Fraturas Periprotéticas , Humanos , Fraturas por Osteoporose/etiologia , Fraturas por Osteoporose/diagnóstico por imagem , Feminino , Idoso , Fraturas Periprotéticas/diagnóstico , Fraturas Periprotéticas/etiologia , Masculino , Osteoporose/complicações , Osteoporose/diagnóstico , Absorciometria de Fóton/métodos , Idoso de 80 Anos ou mais , Densidade Óssea/fisiologia , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Ausente/estatística & dados numéricos , Estudos Retrospectivos , Artroplastia de Quadril , Conservadores da Densidade Óssea/uso terapêutico , Pessoa de Meia-Idade , Artroplastia do Joelho
8.
Scand J Rheumatol ; 53(4): 248-254, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38686835

RESUMO

OBJECTIVE: To evaluate the prevalence and rate of a missed diagnosis of sacroiliitis on abdominal computed tomography (CT) in patients with inflammatory bowel disease (IBD). Factors associated with sacroiliitis were also assessed. METHOD: This retrospective study included 210 patients with IBD (mean age 31.1 years) who underwent abdominal CT. Based on a validated abdominal CT scoring tool, bilateral sacroiliac (SI) joints on abdominal CT in the whole study population were retrospectively reviewed. Subsequently, patients were classified into the 'patients with sacroiliitis' group and the 'patients without sacroiliitis' group. Univariate and multivariate regression analyses were used to clarify the factors associated with sacroiliitis. RESULTS: Sacroiliitis was identified in 26 out of 210 patients (12.4%). However, sacroiliitis was recognized on the primary reading in only five of these 26 patients (19.2%) and was missed on the initial report in the remaining 21 patients (80.8%). Among the 21 patients, 20 (95.2%) were finally diagnosed with axial spondyloarthritis (axSpA). There was a higher prevalence of female sex (p = 0.04), upper gastrointestinal involvement (p = 0.04), and back pain (p < 0.01) in patients with sacroiliitis than in those without sacroiliitis. However, on multivariate analysis, back pain was the only factor associated with sacroiliitis (p = 0.01). CONCLUSION: Physicians should carefully evaluate SI joints on abdominal CT in patients with IBD to enable early detection of sacroiliitis, potentially leading to an early diagnosis of axSpA. In addition, if patients with IBD present with back pain, the possibility of sacroiliitis should be considered.


Assuntos
Doenças Inflamatórias Intestinais , Sacroileíte , Tomografia Computadorizada por Raios X , Humanos , Feminino , Masculino , Sacroileíte/diagnóstico por imagem , Sacroileíte/epidemiologia , Adulto , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/diagnóstico por imagem , Doenças Inflamatórias Intestinais/complicações , Prevalência , Pessoa de Meia-Idade , Adulto Jovem , Diagnóstico Ausente/estatística & dados numéricos , Articulação Sacroilíaca/diagnóstico por imagem , Espondiloartrite Axial/epidemiologia , Espondiloartrite Axial/diagnóstico por imagem
9.
J Emerg Med ; 66(5): e562-e570, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38679548

RESUMO

BACKGROUND: Fewer than one-half of U.S. adults with hypertension (HTN) have it controlled and one-third are unaware of their condition. The emergency department (ED) represents a setting to improve HTN control by increasing awareness of asymptomatic hypertension (aHTN) according to the 2013 American College of Emergency Physicians asymptomatic elevated blood pressure clinical policy. OBJECTIVE: The aim of the study was to estimate the prevalence and management of aHTN in U.S. EDs. METHODS: We examined the 2016-2019 National Hospital Ambulatory Medical Care Surveys to provide a more valid estimate of aHTN visits in U.S. EDs. aHTN is defined as adult patients with blood pressure ≥ 160/100 mm Hg at triage and discharge without trauma or signs of end organ damage. We then stratified aHTN into a 160-179/100-109 mm Hg subgroup and > 180/110 mm Hg subgroup and examined diagnosis and treatment outcomes. RESULTS: Approximately 5.9% of total visits between 2016 and 2019 met the definition for aHTN and 74% of patients were discharged home, representing an estimated 26.5 million visits. Among those discharged home, emergency physicians diagnosed 13% (95% CI 10.6-15.8%) and treated aHTN in 3.9% (95% CI 2.8-5.5%) of patients in the higher aHTN subgroup. In the lower aHTN subgroup, diagnosis and treatment decreased to 3.1% (95% CI 2.4-4.1%) and 1.2% (95% CI 0.7-2.0%), respectively. CONCLUSIONS: Millions of ED patients found to have aHTN are discharged home without diagnosis or treatment. Although management practices follow clinical policy to delay treatment of aHTN, there are missed opportunities to diagnosis aHTN.


Assuntos
Serviço Hospitalar de Emergência , Hipertensão , Humanos , Serviço Hospitalar de Emergência/organização & administração , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Masculino , Estados Unidos/epidemiologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Hipertensão/terapia , Pessoa de Meia-Idade , Adulto , Idoso , Prevalência , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Diagnóstico Ausente/estatística & dados numéricos , Doenças Assintomáticas
12.
Am J Epidemiol ; 193(6): 908-916, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38422371

RESUMO

Routinely collected testing data have been a vital resource for public health response during the COVID-19 pandemic and have revealed the extent to which Black and Hispanic persons have borne a disproportionate burden of SARS-CoV-2 infections and hospitalizations in the United States. However, missing race and ethnicity data and missed infections due to testing disparities limit the interpretation of testing data and obscure the true toll of the pandemic. We investigated potential bias arising from these 2 types of missing data through a case study carried out in Holyoke, Massachusetts, during the prevaccination phase of the pandemic. First, we estimated SARS-CoV-2 testing and case rates by race and ethnicity, imputing missing data using a joint modeling approach. We then investigated disparities in SARS-CoV-2 reported case rates and missed infections by comparing case rate estimates with estimates derived from a COVID-19 seroprevalence survey. Compared with the non-Hispanic White population, we found that the Hispanic population had similar testing rates (476 tested per 1000 vs 480 per 1000) but twice the case rate (8.1% vs 3.7%). We found evidence of inequitable testing, with a higher rate of missed infections in the Hispanic population than in the non-Hispanic White population (79 infections missed per 1000 vs 60 missed per 1000).


Assuntos
Teste para COVID-19 , COVID-19 , Hispânico ou Latino , SARS-CoV-2 , Humanos , COVID-19/etnologia , COVID-19/epidemiologia , COVID-19/diagnóstico , Massachusetts/epidemiologia , Teste para COVID-19/estatística & dados numéricos , Hispânico ou Latino/estatística & dados numéricos , Masculino , Feminino , Pessoa de Meia-Idade , Disparidades em Assistência à Saúde/etnologia , Disparidades em Assistência à Saúde/estatística & dados numéricos , Adulto , Disparidades nos Níveis de Saúde , Negro ou Afro-Americano/estatística & dados numéricos , Etnicidade/estatística & dados numéricos , Idoso , Diagnóstico Ausente/estatística & dados numéricos
13.
Cardiology ; 149(3): 255-263, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38325343

RESUMO

INTRODUCTION: The optimal pre-participation screening strategy to identify athletes at risk for exercise-induced cardiovascular events is unknown. We therefore aimed to compare the American College of Sports Medicine (ACSM) and European Society of Cardiology (ESC) pre-participation screening strategies against extensive cardiovascular evaluations in identifying high-risk individuals among 35-50-year-old apparently healthy men. METHODS: We applied ACSM and ESC pre-participation screenings to 25 men participating in a study on first-time marathon running. We compared screening outcomes against medical history, physical examination, electrocardiography, blood tests, echocardiography, cardiopulmonary exercise testing, and magnetic resonance imaging. RESULTS: ACSM screening classified all participants as "medical clearance not necessary." ESC screening classified two participants as "high-risk." Extensive cardiovascular evaluations revealed ≥1 minor abnormality and/or cardiovascular condition in 17 participants, including three subjects with mitral regurgitation and one with a small atrial septal defect. Eleven participants had dyslipidaemia, six had hypertension, and two had premature atherosclerosis. Ultimately, three (12%) subjects had a serious cardiovascular condition warranting sports restrictions: aortic aneurysm, hypertrophic cardiomyopathy (HCM), and myocardial fibrosis post-myocarditis. Of these three participants, only one had been identified as "high-risk" by the ESC screening (for dyslipidaemia, not HCM) and none by the ACSM screening. CONCLUSION: Numerous occult cardiovascular conditions are missed when applying current ACSM/ESC screening strategies to apparently healthy middle-aged men engaging in their first high-intensity endurance sports event.


Assuntos
Doenças Cardiovasculares , Corrida de Maratona , Humanos , Masculino , Pessoa de Meia-Idade , Adulto , Doenças Cardiovasculares/diagnóstico , Teste de Esforço , Eletrocardiografia , Ecocardiografia , Programas de Rastreamento/métodos , Exame Físico , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Imageamento por Ressonância Magnética , Hipertensão/diagnóstico , Dislipidemias/diagnóstico , Diagnóstico Ausente
14.
BJU Int ; 133(5): 587-595, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38414224

RESUMO

OBJECTIVES: To investigate the effect of the COVID-19 pandemic on prostate cancer incidence, prevalence, and mortality in England. PATIENTS AND METHODS: With the approval of NHS England and using the OpenSAFELY-TPP dataset of 24 million patients, we undertook a cohort study of men diagnosed with prostate cancer. We visualised monthly rates in prostate cancer incidence, prevalence, and mortality per 100 000 adult men from January 2015 to July 2023. To assess the effect of the pandemic, we used generalised linear models and the pre-pandemic data to predict the expected rates from March 2020 as if the pandemic had not occurred. The 95% confidence intervals (CIs) of the predicted values were used to estimate the significance of the difference between the predicted and observed rates. RESULTS: In 2020, there was a drop in recorded incidence by 4772 (31%) cases (15 550 vs 20 322; 95% CI 19 241-21 403). In 2021, the incidence started to recover, and the drop was 3148 cases (18%, 17 950 vs 21 098; 95% CI 19 740-22 456). By 2022, the incidence returned to the levels that would be expected. During the pandemic, the age at diagnosis shifted towards older men. In 2020, the average age was 71.6 (95% CI 71.5-71.8) years, in 2021 it was 71.8 (95% CI 71.7-72.0) years as compared to 71.3 (95% CI 71.1-71.4) years in 2019. CONCLUSIONS: Given that our dataset represents 40% of the population, we estimate that proportionally the pandemic led to 20 000 missed prostate cancer diagnoses in England alone. The increase in incidence recorded in 2023 was not enough to account for the missed cases. The prevalence of prostate cancer remained lower throughout the pandemic than expected. As the recovery efforts continue, healthcare should focus on finding the men who were affected. The research should focus on investigating the potential harms to men diagnosed at older age.


Assuntos
COVID-19 , Neoplasias da Próstata , Humanos , Masculino , COVID-19/epidemiologia , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/diagnóstico , Inglaterra/epidemiologia , Idoso , Incidência , Pessoa de Meia-Idade , Prevalência , SARS-CoV-2 , Diagnóstico Ausente/estatística & dados numéricos , Pandemias , Idoso de 80 Anos ou mais , Adulto , Estudos de Coortes
15.
Genet Med ; 26(4): 101073, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38245859

RESUMO

PURPOSE: The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo variants. Assessing biallelic variants without a gene panel is more challenging. METHODS: We sought to identify missed biallelic diagnoses using GenePy, which incorporates allele frequency, zygosity, and a user-defined deleterious metric, generating an aggregate GenePy score per gene, per participant. We calculated GenePy scores for 2862 recessive disease genes in 78,216 100,000 Genomes Project participants. For each gene, we ranked participant GenePy scores and scrutinized affected participants without a diagnosis, whose scores ranked among the top 5 for each gene. In cases which participant phenotypes overlapped with the disease gene of interest, we extracted rare variants and applied phase, ClinVar, and ACMG classification. RESULTS: 3184 affected individuals without a molecular diagnosis had a top-5-ranked GenePy score and 682 of 3184 (21%) had phenotypes overlapping with a top-ranking gene. In 122 of 669 (18%) phenotype-matched cases (excluding 13 withdrawn participants), we identified a putative missed diagnosis (2.2% of all undiagnosed participants). A further 334 of 669 (50%) cases have a possible missed diagnosis but require functional validation. CONCLUSION: Applying GenePy at scale has identified 456 potential diagnoses, demonstrating the value of novel diagnostic strategies.


Assuntos
Diagnóstico Ausente , Humanos , Virulência , Frequência do Gene/genética , Fenótipo , Genes Recessivos
16.
Acad Pediatr ; 24(5): 815-819, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38278482

RESUMO

OBJECTIVE: Determine screening rates and examine socio-demographic characteristics of metabolic dysfunction-associated steatotic liver disease (MAFLD) screening in a large population of obese children. METHODS: We used Explorys (IBM) which contains aggregated population-level electronic health record data from approximately 360 hospitals and 317,000 providers across the United States to determine MAFLD screening rates. In children 10 to 14 years, obesity was determined based on body mass index ≥ 95%, or encounter with an international classification of disease obesity code. We determined screening rates by calculating the percentage of children with obesity who had an alanine aminotransferase tested, further analyzed by gender, race, and insurance. RESULTS: Of 3,558,420 children, 513,170 (14.4%) were obese. Of obese children, only 9.3% were screened for MAFLD. Females were more likely screened than males (odds ratio (OR) 1.09 (95% confidence intervals (CI): 1.07-1.12)); White children were more likely screened than non-White children (OR 1.21 (95% CI: 1.18-1.23)), and children with Medicaid more likely screened than children with non-Medicaid insurance (OR 1.34 (95% CI: 1.32-1.37)). CONCLUSIONS: The percentage of obese children receiving screening for MAFLD was low. Female gender, White race, and Medicaid insurance were associated with increased screening rates. These findings highlight the need to increase adherence to MAFLD screening. Reporting screening as a health quality measure may reduce implementation gaps in MAFLD screening.


Assuntos
Alanina Transaminase , Programas de Rastreamento , Obesidade Infantil , Adolescente , Criança , Feminino , Humanos , Masculino , Alanina Transaminase/sangue , Índice de Massa Corporal , Fígado Gorduroso/diagnóstico , Programas de Rastreamento/estatística & dados numéricos , Medicaid , Diagnóstico Ausente/estatística & dados numéricos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Obesidade Infantil/diagnóstico , Obesidade Infantil/epidemiologia , Guias de Prática Clínica como Assunto , Fatores Sexuais , Estados Unidos
17.
Am J Surg ; 228: 122-125, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37640639

RESUMO

BACKGROUND: The purpose of this study was to qualitatively explore patient-reported barriers to surgery for primary hyperparathyroidism (PHPT) and identify actionable interventions to improve access to surgical care. METHODS: We recruited forty-nine patients in an endocrine surgery clinic at a large, academic medical to participate in an 11- question phone interview. All interviewees underwent parathyroidectomy for primary hyperparathyroidism. Responses were recorded and a codebook of qualitative themes, blinded to patient race and sex, was created by 3 independent reviewers. Comments were subsequently sorted into the codebook with patient demographic information. RESULTS: Patients that experienced delays in parathyroidectomy most commonly cited "issues with the referral process" and "missed diagnosis" as the cause. Patients were asked to identify the most challenging part about the surgery process. Commonly evoked themes among patients of both races and sexes included "transportation" and "financial" with subthemes of "no ride," "distance from surgeon," "insurance," and "difficulty taking time off work." Patients were asked to name actionable interventions to improve access to surgical care. The most commonly evoked theme involved "support systems," with subthemes of "transportation assistance," "financial," and "patient advocacy." Physician factors were also commonly evoked among patients of both races with subthemes of "knowledge", "communication," and "listening." CONCLUSION: PHPT patients cited multiple barriers to undergoing surgery. Future work can focus on examining these questions with a larger patient cohort and examining delays at the referral and diagnosis stage, which was most commonly cited by our respondents.


Assuntos
Hiperparatireoidismo Primário , Humanos , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/cirurgia , Encaminhamento e Consulta , Paratireoidectomia , Diagnóstico Ausente
18.
Neurol Sci ; 45(1): 231-239, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37480392

RESUMO

INTRODUCTION: Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS. METHODS: In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022. RESULTS: We included 160 patients (73.1% female, mean age 33.9 years). The 2017 revised McDonald's criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3-5 years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2 × p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients. CONCLUSION: The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.


Assuntos
Doença de Fabry , Esclerose Múltipla , Humanos , Feminino , Adulto , Masculino , Diagnóstico Ausente , Doença de Fabry/diagnóstico , Doença de Fabry/epidemiologia , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/epidemiologia , Estudos Prospectivos , Diagnóstico Diferencial
19.
J Infect Public Health ; 17(1): 130-136, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38000313

RESUMO

During the 2022-outbreak, peculiar clinical presentations of Mpox have been described, some of which can make the diagnosis of the disease extremely challenging. Here we report a case series of fourteen patients with Mpox pharynogotonsillar involvement (PTI) seen at National Institute for Infectious Diseases, "Lazzaro Spallanzani", in Rome, Italy from May to September 2022. All included patients were men who have sex with men (median age 38 years) reporting unprotected sex within three weeks from symptoms onset. Seven out of fourteen patients needed hospitalization due to uncontrolled pain, reduced airspace and difficulty swallowing, of whom five were effectively treated with tecovirimat or cidofovir. The remaining two patients were treated with symptomatic drugs. The typical Mpox muco-cutaneous manifestations were not observed simultaneously with PTI in three patients, two of whom developed the lesions after several days, while one never manifested them. Polymerase Chain Reaction (PCR) for Mpox virus was positive in oropharyngeal swab, saliva and serum. Although PTI occurs in only a small percentage of Mpox cases, its diagnosis is of utmost importance. In fact, this localization, if not identified, could lead to serious complications in the absence of early antiviral treatment and to missed diagnosis with an increased risk of disease transmission.


Assuntos
Mpox , Minorias Sexuais e de Gênero , Masculino , Humanos , Adulto , Feminino , Diagnóstico Ausente , Homossexualidade Masculina , Faringe
20.
Anesth Analg ; 138(3): 552-561, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38109495

RESUMO

BACKGROUND: Retrospective clinical trials of pulse oximeter accuracy report more frequent missed diagnoses of hypoxemia in hospitalized Black patients than White patients, differences that may contribute to racial disparities in health and health care. Retrospective studies have limitations including mistiming of blood samples and oximeter readings, inconsistent use of functional versus fractional saturation, and self-reported race used as a surrogate for skin color. Our objective was to prospectively measure the contributions of skin pigmentation, perfusion index (PI), sex, and age on pulse oximeter errors in a laboratory setting. METHODS: We enrolled 146 healthy subjects, including 25 with light skin (Fitzpatrick class I and II), 78 with medium (class III and IV), and 43 with dark (class V and VI) skin. We studied 2 pulse oximeters (Nellcor N-595 and Masimo Radical 7) in prevalent clinical use. We analyzed 9763 matched pulse oximeter readings (pulse oximeter measured functional saturation [Sp o2 ]) and arterial oxygen saturation (hemoximetry arterial functional oxygen saturation [Sa o2 ]) during stable hypoxemia (Sa o2 68%-100%). PI was measured as percent infrared light modulation by the pulse detected by the pulse oximeter probe, with low perfusion categorized as PI < 1%. The primary analysis was to assess the relationship between pulse oximeter bias (difference between Sa o2 and Sp o2 ) by skin pigment category in a multivariable mixed-effects model incorporating repeated-measures and different levels of Sa o2 and perfusion. RESULTS: Skin pigment, PI, and degree of hypoxemia significantly contributed to errors (bias) in both pulse oximeters. For PI values of 1.0% to 1.5%, 0.5% to 1.0%, and <0.5%, the P value of the relationship to mean bias or median absolute bias was <.00001. In lightly pigmented subjects, only PI was associated with positive bias, whereas in medium and dark subjects bias increased with both low perfusion and degree of hypoxemia. Sex and age was not related to pulse oximeter bias. The combined frequency of missed diagnosis of hypoxemia (pulse oximeter readings 92%-96% when arterial oxygen saturation was <88%) in low perfusion conditions was 1.1% for light, 8.2% for medium, and 21.1% for dark skin. CONCLUSIONS: Low peripheral perfusion combined with darker skin pigmentation leads to clinically significant high-reading pulse oximeter errors and missed diagnoses of hypoxemia. Darkly pigmented skin and low perfusion states are likely the cause of racial differences in pulse oximeter performance in retrospective studies.


Assuntos
Diagnóstico Ausente , Oximetria , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Hipóxia/diagnóstico , Oxigênio , Perfusão
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