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1.
Pediatr Dermatol ; 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38898621

RESUMO

Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy-confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk.

2.
Fam Cancer ; 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38822938

RESUMO

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms. OBJECTIVE: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral. METHODS: Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results. RESULTS: 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN. CONCLUSION: Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.

3.
Front Cell Neurosci ; 18: 1374298, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38812790

RESUMO

Microglia play a critical role in maintaining brain homeostasis but become dysregulated in neurodegenerative diseases. Regulator of G-protein Signaling 10 (RGS10), one of the most abundant homeostasis proteins in microglia, decreases with aging and functions as a negative regulator of microglia activation. RGS10-deficient mice exhibit impaired glucose tolerance, and high-fat diet induces insulin resistance in these mice. In this study, we investigated whether RGS10 modulates microglia activation in response to hyperglycemic conditions, complementing our previous findings of its role in inflammatory stimuli. In RGS10 knockdown (KD) BV2 cells, TNF production increased significantly in response to high glucose, particularly under proinflammatory conditions. Additionally, glucose uptake and GLUT1 mRNA levels were significantly elevated in RGS10 KD BV2 cells. These cells produced higher ROS and displayed reduced sensitivity to the antioxidant N-Acetyl Cysteine (NAC) when exposed to high glucose. Notably, both BV2 cells and primary microglia that lack RGS10 exhibited impaired uptake of alpha-synuclein aggregates. These findings suggest that RGS10 acts as a negative regulator of microglia activation not only in response to inflammation but also under hyperglycemic conditions.

4.
Arch Pathol Lab Med ; 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38797720

RESUMO

CONTEXT.­: The National Institutes of Health Genotype-Tissue Expression (GTEx) project was developed to elucidate how genetic variation influences gene expression in multiple normal tissues procured from postmortem donors. OBJECTIVE.­: To provide critical insight into a biospecimen's suitability for subsequent analysis, each biospecimen underwent quality assessment measures that included evaluation for underlying disease and potential effects introduced by preanalytic factors. DESIGN.­: Electronic images of each tissue collected from nearly 1000 postmortem donors were evaluated by board-certified pathologists for the extent of autolysis, tissue purity, and the type and abundance of any extraneous tissue. Tissue-specific differences in the severity of autolysis and RNA integrity were evaluated, as were potential relationships between these markers and the duration of postmortem interval and rapidity of death. RESULTS.­: Tissue-specific challenges in the procurement and preservation of the nearly 30 000 tissue specimens collected during the GTEx project are summarized. Differences in the degree of autolysis and RNA integrity number were observed among the 40 tissue types evaluated, and tissue-specific susceptibilities to the duration of postmortem interval and rapidity of death were observed. CONCLUSIONS.­: Ninety-five percent of tissues were of sufficient quality to support RNA sequencing analysis. Biospecimens, annotated whole slide images, de-identified clinical data, and genomic data generated for GTEx represent a high-quality and comprehensive resource for the scientific community that has contributed to its use in approximately 1695 articles. Biospecimens and data collected under the GTEx project are available via the GTEx portal and authorized access to the Database of Genotypes and Phenotypes; procedures and whole slide images are available from the National Cancer Institute.

5.
Am J Occup Ther ; 78(3)2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38748627

RESUMO

IMPORTANCE: With the increasing amount of substance use-related health conditions in the United States, it is important for rehabilitation science professionals to receive screening and prevention training. OBJECTIVE: To describe and examine the preliminary effectiveness of a novel educational program, Screening, Brief Intervention, and Referral to Treatment Plus (SBIRT-Plus), that combines traditional SBIRT training with new modules for cannabis, stimulant, and opioid use. DESIGN: Prospective, cohort design. SETTING: Academic institution. PARTICIPANTS: One hundred eighty-one rehabilitation science graduate students. INTERVENTION: SBIRT-Plus curriculum. OUTCOMES AND MEASURES: Outcomes included satisfaction with training, perception of interprofessional training, attitudes, knowledge, and stigma, as assessed with the Readiness for Interprofessional Learning Scale, Alcohol and Alcohol Problems Perception Questionnaire, Drug and Drug Problems Perception Questionnaire, Knowledge Screening Scale, and two stigma instruments. RESULTS: Most students (>80%) expressed satisfaction with their training, would recommend the training to a colleague, and believed that the training would influence and change the way they practiced with patients at risk for substance use disorders. Students' attitudes and knowledge increased from pre- to post-training, and stigma perceptions were significantly reduced. CONCLUSIONS AND RELEVANCE: SBIRT-Plus is an evidence-based interprofessional training that is feasible to implement in graduate-level education programs. Integrating SBIRT-Plus into professional graduate programs may be an optimal and low-cost model for training rehabilitation health care professionals. Plain-Language Summary: Screening, Brief Intervention, and Referral to Treatment Plus (SBIRT-Plus) is an evidence-based interprofessional training that can be easily adopted in curricula to train professional students about the importance of screening for substance use disorders.


Assuntos
Encaminhamento e Consulta , Transtornos Relacionados ao Uso de Substâncias , Humanos , Transtornos Relacionados ao Uso de Substâncias/reabilitação , Masculino , Feminino , Estudos Prospectivos , Currículo , Terapia Ocupacional/educação , Programas de Rastreamento , Adulto , Educação Interprofissional , Atitude do Pessoal de Saúde
6.
Tob Use Insights ; 17: 1179173X241247414, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38628573

RESUMO

Many Canadians use nicotine products such as cigarettes and e-cigarettes. A particular subpopulation of concern is post-secondary students given they have a higher prevalence of use. Many correlates of cigarette smoking and e-cigarette use have been identified. However, less focus has been on examining the correlates of cigarette smoking, e-cigarette use and dual use. This study explores the correlates of different nicotine modality use in post-secondary students. Using data from the Canadian Campus Wellbeing Survey (CCWS; n = 27,164), a multi-level nominal regression assessed the correlates of nicotine modality use. In comparison to individuals who were <20, individuals 20-24 (OR = .448, 95% CI .321, .625), 25-29 (OR = .140, 95% CI .093, .212), 30-34 (OR = .076, 95% CI .046, .125) and over 35 (OR = .041, 95% CI .024, .071) had lower odds of e-cigarette use compared to cigarette smoking. Identifying as a woman (OR = 1.553, 95% CI 1.202, 2.006), non-heterosexual (OR = .642, 95% CI = .485,0.851), current cannabis user (OR = 1.651, 95% CI 1.296, 2.104), and being an international student (OR = .350, 95% CI .251, .487) also impacted the odds of e-cigarette use vs only cigarette smoking. When considering dual use vs cigarette smoking, individuals aged 20-24 (OR = .491, 95% CI .337, .717), 25-29 (OR = .221, 95% CI .137, .357), 30-34 (OR = .163, 95% CI .091, .292) and over 35 (OR = .122, 95% CI .065, .230) had lower odds than individuals <20. Current cannabis use (OR = 1.680, 95% CI = 1.209, 2.138), binge drinking (OR = 1.885, 95% CI 1.384, 2.568), and international student status (OR = .689, 95% CI .476, .996) also impacted cigarette smoking vs dual-use. Overall, a minority of young adults (11.5%) at post-secondary institutions in our sample use nicotine products, and the higher prevalence of e-cigarette use warrants continued monitoring. Health promotion campaigns addressing e-cigarette use are required. Additionally, tailored intervention efforts could prioritize the treatment needs of international students studying in Canada.

7.
Arch Pathol Lab Med ; 2024 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-38670546

RESUMO

CONTEXT.­: The National Institutes of Health (NIH) Genotype-Tissue Expression (GTEx) project was designed to evaluate how genetic variation and epigenetic effects influence gene expression in normal tissue. OBJECTIVE.­: To ensure that the grossly normal-appearing tissues collected were free from disease, each specimen underwent histologic evaluation. DESIGN.­: In total, nearly 30 000 tissue aliquots collected from almost 1000 postmortem donors underwent histologic review by project pathologists, and detailed observations of any abnormalities or lesions present were recorded. RESULTS.­: Despite sampling of normal-appearing tissue, in-depth review revealed incidental findings among GTEx samples that included neoplastic, autoimmune, and genetic conditions; the incidence of some of these conditions among GTEx donors differed from those previously reported for other populations. A number of age-related abnormalities observed during histologic review of tissue specimens are also described. CONCLUSIONS.­: Histologic findings from the GTEx project may serve to improve populational awareness of several conditions and present a unique opportunity for others to explore age- and gender-influenced conditions. Resources from the study, including histologic image and sequencing data, are publicly available for research.

8.
J Neurosurg Pediatr ; 33(6): 619-625, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38518279

RESUMO

OBJECTIVE: In the United States, Spanish is the second most spoken language, with nearly 42 million individuals speaking Spanish at home. Spanish speakers have been noted to have higher rates of unfavorable neurosurgical outcomes; however, to the authors' knowledge, no study has explored the experiences of patients, caregivers, and providers receiving or delivering neurosurgical care in language-discordant settings. In this study, the authors sought to identify challenges faced by pediatric neurosurgery providers and Spanish-speaking parents communicating with a language barrier and propose solutions to address those challenges. METHODS: Spanish-speaking parents and pediatric neurosurgery providers were invited to participate in semistructured interviews. Purposeful sampling was used to recruit Spanish-speaking parents whose child had recently undergone neurological surgery at the authors' institution and to identify pediatric neurosurgery clinical team members to interview, including physicians, advanced practice providers, and interpreters. Codes were inductively developed and applied to transcripts by two researchers. Thematic analysis was conducted to identify challenges faced by parents and providers. RESULTS: Twenty individuals were interviewed, including parents (n = 8), advanced practice providers (n = 5), physicians (n = 3), interpreters (n = 2), a social worker (n = 1), and a nurse (n = 1). Three challenges were identified. 1) Compared with English-speaking parents, providers noted that Spanish-speaking parents were less likely to ask questions or raise new concerns. Concurrently, Spanish-speaking parents expressed a desire to better understand their child's future medical needs, care, and development. 2) There is a dearth of high-quality resources available in the Spanish language to supplement patient and parent neurosurgical education. 3) Both parents and providers invariably prefer in-person interpreters; however, their availability is limited. CONCLUSIONS: Three challenges were identified by Spanish-speaking parents of pediatric neurosurgery patients and providers when receiving or delivering care through a language barrier. The authors discuss multilevel solutions that, if deployed, could directly address these shared challenges. Furthermore, optimizing communication may help mitigate the disparities experienced by non-English-speaking Hispanic/Latino individuals when receiving neurosurgical care.


Assuntos
Barreiras de Comunicação , Disparidades em Assistência à Saúde , Hispânico ou Latino , Pais , Humanos , Pais/psicologia , Feminino , Masculino , Neurocirurgia , Criança , Procedimentos Neurocirúrgicos , Idioma , Adulto , Pediatria , Estados Unidos
9.
Plast Reconstr Surg ; 153(1): 101e-111e, 2024 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-37189241

RESUMO

BACKGROUND: Upper extremity (UE) trauma requiring operative care increases during the summer and fall months, which the authors colloquially refer to as "trauma season." METHODS: CPT databases were queried for codes related to acute UE trauma at a single level-1 trauma center. Monthly CPT code volume was tabulated for 120 consecutive months and average monthly volume was calculated. Raw data were plotted as a time series and transformed as a ratio to the moving average. Autocorrelation was applied to the transformed data set to detect yearly periodicity. Multivariable modeling quantified the proportion of volume variability attributable to yearly periodicity. Subanalysis assessed presence and strength of periodicity in four age groups. RESULTS: A total of 11,084 CPT codes were included. Monthly trauma-related CPT volume was highest in July through October and lowest in December through February. Time-series analysis revealed yearly oscillation in addition to a growth trend. Autocorrelation revealed statistically significant positive and negative peaks at a lag of 12 and 6 months, respectively, confirming yearly periodicity. Multivariable modeling revealed R 2 attributable to periodicity of 0.53 ( P < 0.01). Periodicity was strongest in younger populations and weaker in older populations. R 2 was 0.44 for ages 0 to 17, 0.35 for ages 18 to 44, 0.26 for ages 45 to 64, and 0.11 for ages 65 and older. CONCLUSIONS: Operative UE trauma volumes peak in the summer and early fall and reach a winter nadir. Periodicity accounts for 53% of trauma volume variability. The authors' findings have implications for allocation of operative block time and personnel and expectation management over the course of the year.


Assuntos
Traumatismos do Braço , Humanos , Idoso , Estações do Ano , Estudos Retrospectivos , Extremidade Superior/cirurgia
10.
J Surg Res ; 290: 52-60, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37196608

RESUMO

INTRODUCTION: Excessive opioid use after sustaining trauma has contributed to the opioid epidemic. Standardizing the quantity of opioids prescribed at discharge can improve prescribing behavior. We hypothesized that adopting new electronic medical record order sets would be associated with decreased morphine milligram equivalents (MME) prescribed at discharge for trauma patients. METHODS: This was a quasi-experimental study examining opioid prescribing practices at a Level 1 Trauma Center. All patients ages 18-89 admitted to the Trauma Service from January 2017 through March 2021 and hospitalized for at least 2 d were included. In November 2020, new trauma admission and discharge order sets were implemented with recommended discharge opioid quantity based on inpatient opioid usage the day prior to discharge multiplied by five. Postintervention prescribing practices were compared to historical controls. The primary outcome was MME at discharge. RESULTS: Baseline characteristics between preintervention and postintervention cohorts were comparable. There was a significant reduction in median MME prescribed at discharge postintervention (112.5 versus 75.0, P < 0.0001). Median inpatient MME usage also significantly reduced postintervention (184.1 versus 160.5; P < 0.0001). There were trends toward increased ideal prescribing per order set recommendation and a reduction in overprescribing. Patients receiving the recommended opioid quantity at discharge had the lowest opioid refill prescription rate (under: 29.6%, ideal: 7.3%, over: 19.7%, P < 0.0001). CONCLUSIONS: For trauma patients requiring inpatient opioid therapy, a pragmatic and individualized intervention was associated with a reduced quantity of discharge opioids without negative outcomes. Reduction in inpatient opioid use was also associated with standardizing prescribing practices of surgeons with electronic medical record order sets.


Assuntos
Analgésicos Opioides , Transtornos Relacionados ao Uso de Opioides , Humanos , Analgésicos Opioides/uso terapêutico , Alta do Paciente , Padrões de Prática Médica , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/etiologia , Estudos Retrospectivos
11.
Sci Rep ; 13(1): 8228, 2023 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-37217548

RESUMO

Accelerated progression of chronic obstructive pulmonary disease (COPD) is associated with increased risks of hospitalization and death. Prognostic insights into mechanisms and markers of progression could facilitate development of disease-modifying therapies. Although individual biomarkers exhibit some predictive value, performance is modest and their univariate nature limits network-level insights. To overcome these limitations and gain insights into early pathways associated with rapid progression, we measured 1305 peripheral blood and 48 bronchoalveolar lavage proteins in individuals with COPD [n = 45, mean initial forced expiratory volume in one second (FEV1) 75.6 ± 17.4% predicted]. We applied a data-driven analysis pipeline, which enabled identification of protein signatures that predicted individuals at-risk for accelerated lung function decline (FEV1 decline ≥ 70 mL/year) ~ 6 years later, with high accuracy. Progression signatures suggested that early dysregulation in elements of the complement cascade is associated with accelerated decline. Our results propose potential biomarkers and early aberrant signaling mechanisms driving rapid progression in COPD.


Assuntos
Pulmão , Doença Pulmonar Obstrutiva Crônica , Humanos , Progressão da Doença , Fumar/efeitos adversos , Volume Expiratório Forçado , Lavagem Broncoalveolar , Biomarcadores
14.
BMC Nephrol ; 24(1): 49, 2023 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-36894895

RESUMO

BACKGROUND: People with kidney failure often require surgery and experience worse postoperative outcomes compared to the general population, but existing risk prediction tools have excluded those with kidney failure during development or exhibit poor performance. Our objective was to derive, internally validate, and estimate the clinical utility of risk prediction models for people with kidney failure undergoing non-cardiac surgery. DESIGN, SETTING, PARTICIPANTS, AND MEASURES: This study involved derivation and internal validation of prognostic risk prediction models using a retrospective, population-based cohort. We identified adults from Alberta, Canada with pre-existing kidney failure (estimated glomerular filtration rate [eGFR] < 15 mL/min/1.73m2 or receipt of maintenance dialysis) undergoing non-cardiac surgery between 2005-2019. Three nested prognostic risk prediction models were assembled using clinical and logistical rationale. Model 1 included age, sex, dialysis modality, surgery type and setting. Model 2 added comorbidities, and Model 3 added preoperative hemoglobin and albumin. Death or major cardiac events (acute myocardial infarction or nonfatal ventricular arrhythmia) within 30 days after surgery were modelled using logistic regression models. RESULTS: The development cohort included 38,541 surgeries, with 1,204 outcomes (after 3.1% of surgeries); 61% were performed in males, the median age was 64 years (interquartile range [IQR]: 53, 73), and 61% were receiving hemodialysis at the time of surgery. All three internally validated models performed well, with c-statistics ranging from 0.783 (95% Confidence Interval [CI]: 0.770, 0.797) for Model 1 to 0.818 (95%CI: 0.803, 0.826) for Model 3. Calibration slopes and intercepts were excellent for all models, though Models 2 and 3 demonstrated improvement in net reclassification. Decision curve analysis estimated that use of any model to guide perioperative interventions such as cardiac monitoring would result in potential net benefit over default strategies. CONCLUSIONS: We developed and internally validated three novel models to predict major clinical events for people with kidney failure having surgery. Models including comorbidities and laboratory variables showed improved accuracy of risk stratification and provided the greatest potential net benefit for guiding perioperative decisions. Once externally validated, these models may inform perioperative shared decision making and risk-guided strategies for this population.


Assuntos
Diálise Renal , Insuficiência Renal , Humanos , Masculino , Pessoa de Meia-Idade , Alberta/epidemiologia , Insuficiência Renal/epidemiologia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Feminino , Idoso
15.
JAMA Dermatol ; 159(5): 545-553, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-36920356

RESUMO

Importance: Therapy for advanced melanoma has transformed during the past decade, but early detection and prognostic assessment of cutaneous melanoma (CM) remain paramount goals. Best practices for screening and use of pigmented lesion evaluation tools and gene expression profile (GEP) testing in CM remain to be defined. Objective: To provide consensus recommendations on optimal screening practices and prebiopsy diagnostic, postbiopsy diagnostic, and prognostic assessment of CM. Evidence Review: Case scenarios were interrogated using a modified Delphi consensus method. Melanoma panelists (n = 60) were invited to vote on hypothetical scenarios via an emailed survey (n = 42), which was followed by a consensus conference (n = 51) that reviewed the literature and the rationale for survey answers. Panelists participated in a follow-up survey for final recommendations on the scenarios (n = 45). Findings: The panelists reached consensus (≥70% agreement) in supporting a risk-stratified approach to melanoma screening in clinical settings and public screening events, screening personnel recommendations (self/partner, primary care provider, general dermatologist, and pigmented lesion expert), screening intervals, and acceptable appointment wait times. Participants also reached consensus that visual and dermoscopic examination are sufficient for evaluation and follow-up of melanocytic skin lesions deemed innocuous. The panelists reached consensus on interpreting reflectance confocal microscopy and some but not all results from epidermal tape stripping, but they did not reach consensus on use of certain pigmented lesion evaluation tools, such as electrical impedance spectroscopy. Regarding GEP scores, the panelists reached consensus that a low-risk prognostic GEP score should not outweigh concerning histologic features when selecting patients to undergo sentinel lymph node biopsy but did not reach consensus on imaging recommendations in the setting of a high-risk prognostic GEP score and low-risk histology and/or negative nodal status. Conclusions and Relevance: For this consensus statement, panelists reached consensus on aspects of a risk-stratified approach to melanoma screening and follow-up as well as use of visual examination and dermoscopy. These findings support a practical approach to diagnosing and evaluating CM. Panelists did not reach consensus on a clearly defined role for GEP testing in clinical decision-making, citing the need for additional studies to establish the clinical use of existing GEP assays.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Prognóstico , Transcriptoma , Saúde Pública , Medição de Risco , Melanoma Maligno Cutâneo
16.
Am J Cancer Res ; 13(1): 236-244, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36777509

RESUMO

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition attributed to pathogenic variants in fumarate hydratase (FH) and presents with cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs) and renal cell cancer (RCC). The objective of this study was to characterize the spectrum of clinical and genetic findings in HLRCC at a large academic tertiary care referral center with a focus on dermatologic manifestations. Fifty-seven patients, 41 female and 16 male, with 27 unique pathogenic or likely-pathogenic FH variants were identified from 38 families. Mean age of HLRCC diagnosis was 44.4 years (range 8-82). CLMs were the primary reason for referral in 49.1% (n=28). CLMs were present in 43/56 patients who underwent full skin examination. Three of these 56 patients were diagnosed with cutaneous leiomyosarcoma. Incidence of ULMs was 37/41 female patients; no uterine leiomyosarcomas were observed. RCC was observed in 6/57 patients (mean age of diagnosis: 47.3 years (range 28-79)). CLMs predated RCC in the 3 patients diagnosed with both. Dermatologists have an opportunity to recognize cutaneous manifestations of HLRCC, including cutaneous leiomyomas and rarely cutaneous leiomyosarcomas, and refer for genetic evaluation to provide definitive diagnosis. Identification of HLRCC can promote family cascade testing and screening for RCC.

17.
J Knee Surg ; 36(14): 1462-1466, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36657463

RESUMO

Computed tomography (CT) scan-based three-dimensional (3D) modeling operative technology has been shown to improve upon results of manual total knee arthroplasties (TKAs). Although there are many reports on superior precision of this CT-based technology, there has been continuing interest regarding extended clinical outcomes. The purpose of this study was to compare their clinical outcomes with manual TKAs at approximately 3-year follow-up. Specifically, we analyzed: (1) survivorship, (2) functional outcomes, (3) complications, and (4) radiographic outcomes (i.e., alignment, progressive radiolucencies). A total of 210 patients receiving CT-based TKAs performed by a single surgeon at a single center between July 1, 2016, and February 16, 2018, were compared with 210 manual TKAs completed by the same surgeon immediately preceding implementation of the CT-based technology. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) surveys were collected at ∼3 years postoperatively. Subgroup analyses of pain and physical function scores were performed. Follow-up radiographs were evaluated for alignment, loosening, and/or progressive radiolucencies. There was 100% survivorship at final follow-up. The postoperative mean pain scores for the CT-based cohort and manual cohort were 1 ± 2 (range, 0-14) and 2 ± 3 (range, 0-17), respectively (p < 0.05). The postoperative mean physical function scores for the CT-based cohort and manual cohort were 3 ± 4 (range, 0-18) and 5 ± 5 (range, 0-19), respectively (p < 0.05). The postoperative mean total WOMAC scores for the CT-based cohort and manual cohort were 5 ± 4 (range, 0-32) and 7 ± 8 (range, 0-35), respectively (p < 0.05). There were low numbers of postoperative complications at final follow-up in either cohort. None exhibited progressive radiolucencies by final follow-up. The 3-year postoperative clinical outcomes support excellent survivorship and radiographic outcomes, low complication rates, as well as improved pain, physical function, and total WOMAC scores for CT-based TKAs. Therefore, patients who undergo CT-based 3D modeling TKAs should expect to have superior long-term clinical outcomes.


Assuntos
Artroplastia do Joelho , Prótese do Joelho , Osteoartrite do Joelho , Humanos , Artroplastia do Joelho/métodos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Resultado do Tratamento , Dor Pós-Operatória , Tomografia Computadorizada por Raios X , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/cirurgia , Seguimentos
18.
J Hum Hypertens ; 37(1): 28-35, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-34625659

RESUMO

Optical coherence tomography of the eye suggests the retina thins in normal pregnancy. Our objectives were to confirm and extend these observations to women with hypertensive disorders of pregnancy (HDP). Maternal demographics, clinical/laboratory findings and measurements of macular thickness were repeatedly collected at gestational ages <20 weeks, 20-weeks to delivery, at delivery and postpartum. The primary outcome was the change in macular thickness from non-pregnant dimensions in women with incident HDP compared to non-hypertensive pregnant controls. Secondary outcomes were the relationship(s) between mean arterial pressure (MAP) and macular response. Data show macular thicknesses diminished at <20 weeks gestation in each of 27 pregnancies ending in HDP (mean 3.94 µm; 95% CI 4.66, 3.21) and 11 controls (mean 3.92 µm; 5.05, 2.79; P < 0.001 versus non-pregnant dimensions in both; P = 0.983 HDP versus controls). This thinning response continued to delivery in all controls and in 7 women with HDP superimposed on chronic hypertension. Macular thinning was lost after 20 weeks gestation in the other 20 women with HDP. MAP at loss of macular thinning in women without prior hypertension (n = 12) was identical to MAP at enrollment. However, mean MAP subsequently rose 19 mmHg (15, 22) leading to de novo HDP in all 12 women. Loss of thinning leading to a rise in MAP was also observed in 8 of 15 women with HDP superimposed on chronic hypertension. We conclude the macula thins in most women in early pregnancy. Those who lose this early macular thinning response often develop blood pressure elevations leading to HDP.


Assuntos
Hipertensão Maligna , Hipertensão Induzida pela Gravidez , Pré-Eclâmpsia , Gravidez , Feminino , Humanos , Lactente , Hipertensão Induzida pela Gravidez/diagnóstico , Pressão Arterial , Retina
19.
J Knee Surg ; 36(2): 159-166, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34187064

RESUMO

Robotic-assisted technology has been developed to optimize the consistency and accuracy of bony cuts, implant placements, and knee alignments for total knee arthroplasty (TKA). With recently developed designs, there is a need for the reporting longer than initial patient outcomes. Therefore, the purpose of this study was to compare manual and robotic-assisted TKA at 2-year minimum for: (1) aseptic survivorship; (2) reduced Western Ontario and McMaster Universities Osteoarthritis Index (r-WOMAC) pain, physical function, and total scores; (3) surgical and medical complications; and (4) radiographic assessments for progressive radiolucencies. We compared 80 consecutive cementless robotic-assisted to 80 consecutive cementless manual TKAs. Patient preoperative r-WOMAC and demographics (e.g., age, sex, and body mass index) were not found to be statistically different. Surgical data and medical records were reviewed for aseptic survivorship, medical, and surgical complications. Patients were administered an r-WOMAC survey preoperatively and at 2-year postoperatively. Mean r-WOMAC pain, physical function, and total scores were tabulated and compared using Student's t-tests. Radiographs were reviewed serially throughout patient's postoperative follow-up. A p < 0.05 was considered significant. The aseptic failure rates were 1.25 and 5.0% for the robotic-assisted and manual cohorts, respectively. Patients in the robotic-assisted cohort had significantly improved 2-year postoperative r-WOMAC mean pain (1 ± 2 vs. 2 ± 3 points, p = 0.02), mean physical function (2 ± 3 vs. 4 ± 5 points, p = 0.009), and mean total scores (4 ± 5 vs, 6 ± 7 points, p = 0.009) compared with the manual TKA. Surgical and medical complications were similar in the two cohorts. Only one patient in the manual cohort had progressive radiolucencies on radiographic assessment. Robotic-assisted TKA patients demonstrated improved 2-year postoperative outcomes when compared with manual patients. Further studies could include multiple surgeons and centers to increase the generalizability of these results. The results of this study indicate that patients who undergo robotic-assisted TKA may have improved 2-year postoperative outcomes.


Assuntos
Artroplastia do Joelho , Prótese do Joelho , Osteoartrite do Joelho , Procedimentos Cirúrgicos Robóticos , Humanos , Artroplastia do Joelho/efeitos adversos , Procedimentos Cirúrgicos Robóticos/métodos , Seguimentos , Resultado do Tratamento , Articulação do Joelho/cirurgia , Dor Pós-Operatória/etiologia
20.
Ann Surg ; 277(2): e280-e286, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34238811

RESUMO

OBJECTIVE: The aim of this study was to estimate the association between estimated glomerular filtration rate (eGFR) and acute myocardial infarction (AMI) or death after ambulatory noncardiac surgery. SUMMARY BACKGROUND DATA: People with chronic kidney disease (CKD) commonly undergo surgical procedures. Although most are performed in an ambulatory setting, the risk of major perioperative outcomes after ambulatory surgery for people with CKD is unknown. METHODS: In this retrospective population-based cohort study using administrative health data from Alberta, Canada, we included adults with measured preoperative kidney function undergoing ambulatory noncardiac surgery between April 1, 2005 and February 28, 2017. Participants were categorized into 6 eGFR categories (in mL/min/1.73m 2 )of ≥60 (G1-2), 45 to 59 (G3a), 30 to 44 (G3b), 15 to 29 (G4), <15 not receiving dialysis (G5ND), and those receiving chronic dialysis (G5D). The odds of AMI or death within 30 days of surgery were estimated using multivariable generalized estimating equation models. RESULTS: We identified 543,160 procedures in 323,521 people with a median age of 66 years (IQR 56-76); 52% were female. Overall, 2338 people (0.7%) died or had an AMI within 30 days of surgery. Compared with the G1-2 category, the adjusted odds ratio of death or AMI increased from 1.1 (95% confidence interval: 1.0-1.3) for G3a to 3.1 (2.6-3.6) for G5D. Emergency Department and Urgent Care Center visits within 30 days were frequent (17%), though similar across eGFR categories. CONCLUSIONS: Ambulatory surgery was associated with a low risk of major postoperative events. This risk was higher for people with CKD, which may inform their perioperative shared decision-making and management.


Assuntos
Procedimentos Cirúrgicos Ambulatórios , Insuficiência Renal Crônica , Adulto , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Masculino , Estudos Retrospectivos , Estudos de Coortes , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/epidemiologia , Taxa de Filtração Glomerular , Rim , Alberta/epidemiologia
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