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1.
Clin Infect Dis ; 79(2): 339-347, 2024 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-39149937

RESUMO

During pandemics, healthcare providers struggle with balancing obligations to self, family, and patients. While HIV/AIDS seemed to settle this issue, coronavirus disease 2019 (COVID-19) rekindled debates regarding treatment refusal. We searched MEDLINE, Embase, CINAHL Complete, and Web of Science using terms including obligation, refusal, HIV/AIDS, COVID-19, and pandemics. After duplicate removal and dual, independent screening, we analyzed 156 articles for quality, ethical position, reasons, and concepts. Diseases in our sample included HIV/AIDS (72.2%), severe acute respiratory syndrome (SARS) (10.2%), COVID-19 (10.2%), Ebola (7.0%), and influenza (7.0%). Most articles (81.9%, n = 128) indicated an obligation to treat. COVID-19 had the highest number of papers indicating ethical acceptability of refusal (60%, P < .001), while HIV had the least (13.3%, P = .026). Several reason domains were significantly different during COVID-19, including unreasonable risks to self/family (26.7%, P < .001) and labor rights/workers' protection (40%, P < .001). A surge in ethics literature during COVID-19 has advocated for permissibility of treatment refusal. Balancing healthcare provision with workforce protection is crucial in effectively responding to a global pandemic.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/epidemiologia , Pessoal de Saúde/ética , Infecções por HIV/tratamento farmacológico , Pandemias , Recusa do Paciente ao Tratamento/ética , Obrigações Morais
2.
Diabet Med ; 41(3): e15210, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37634222

RESUMO

AIMS: While peer support research is growing in the Type 1 diabetes (T1D) community, the peer supporter training (PST) process is rarely documented in detail. This study provides a comprehensive description of PST and evaluation for the REACHOUT mental health support intervention, and examines the feasibility and perceived utility of PST. METHODS: Fifty-three adults with T1D were recruited to participate in a 6-hour, zoom-based PST program for mental health support. The program was structured in three parts: (1) internal motivation, resilience and empathy; (2) mindfulness, emotions and diabetes distress; and (3) active listening and deferring clinical questions to professionals. Candidates were evaluated based on eight pre-established competency criteria during a 5-day support trial with an assigned standardized T1D participant. Perceived usefulness of training skills was also assessed 3 months into the REACHOUT mental health support intervention. RESULTS: Fifty-one of the fifty-three candidates who completed training achieved the criteria to graduate. Mean scores for the eight competency domains were: listens actively (4.55); asks open-ended questions (4.12); expresses empathy (4.42); avoids passing judgment (4.67); sits with strong emotions (4.44); refrains from giving advice (4.38); makes reflections (4.5); and defers medical questions (4.58). Of the skills learned during the PST, 95% rated interpreting and discussing diabetes distress profile and expressing empathy as moderately to extremely useful. CONCLUSIONS: Findings demonstrate that it is feasible to recruit and graduate the number of trainees needed using a rigorous process. Only by making training protocols available can the PST be replicated and translated to other T1D populations (e.g. adolescents, parents of children with T1D).


Assuntos
Diabetes Mellitus Tipo 1 , Aplicativos Móveis , Adulto , Criança , Adolescente , Humanos , Diabetes Mellitus Tipo 1/terapia , Saúde Mental , Idioma , Pais
3.
J Surg Res ; 294: 1-8, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37852139

RESUMO

INTRODUCTION: Firearm injury is a public health crisis. Most victims are minorities in underserved neighborhoods. Measuring firearm injury by mortality underestimates its impact, as most victims survive to discharge. This study was done to determine if race and insurance status are associated with discharge disposition for gunshot wound (GSW)-related trauma. METHODS: Using the 2019 Trauma Quality Improvement Program database, we identified GSW patients with Abbreviated Injury Scale (AIS) = 1-3. Exclusion criteria included patients who died in hospital and routine home discharge. We compared discharge patterns of patients based on demographics (age, gender, race, ethnicity, payor, AIS, hospital designation, and length of stay [LOS]) and injury severity. Multivariable logistic regression models identified factors associated with discharge disposition. RESULTS: Our sample included 2437 patients with GSWs. On univariable analysis, Black patients were more likely to discharge to home with home health (64.1% Black versus 34.7% White; P < 0.001). White patients were more likely to discharge to skilled nursing facility (SNF) (51.4% White versus 44.6% Black; P < 0.001). Controlling for age, race, Latin ethnicity, primary payor, LOS, AIS severity, and injury severity score factors independently associated with discharge to SNF included age (0.0462, P < 0.001), Medicaid (1.136, P < 0.0003), Medicare (1.452, P < 0.001), and LOS (0.03745, P < 0.001). CONCLUSIONS: Postacute care following traumatic injuries is essential to recovery. Black GSW victims are more likely to be discharged to home health than White patients, who are more likely to be discharged to SNF. Targeted programs to reduce barriers to appropriate aftercare are necessary to eliminate this bias and improve the care of underserved populations.


Assuntos
Armas de Fogo , Ferimentos por Arma de Fogo , Idoso , Humanos , Estados Unidos/epidemiologia , Alta do Paciente , Ferimentos por Arma de Fogo/epidemiologia , Instituições de Cuidados Especializados de Enfermagem , Medicare , Estudos Retrospectivos
4.
J Surg Res ; 302: 420-427, 2024 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-39153364

RESUMO

INTRODUCTION: Surgical stabilization of rib fractures (SSRF) is associated with lower rates of mortality and fewer complications. This study evaluates whether the decision to undergo SSRF is associated with age, race, ethnicity, and insurance status and assesses associated clinical outcomes. METHODS: This retrospective analysis included patients ≥45 y old with rib fractures who underwent SSRF in the Trauma Quality Improvement Program from 2016 to 2020. Race, ethnicity, and insurance statuses were collected. Age in years was dichotomized into two groups: 45-64 and 65+. Outcomes included ventilator-associated pneumonia, unplanned endotracheal intubation, acute respiratory distress syndrome, in-hospital mortality, failure to rescue (FTR) after major complications, and FTR after respiratory complications. Logistic regression models were fit to evaluate outcomes, controlling for gender, body mass index, Injury Severity Score, flail chest, chronic obstructive pulmonary disease, congestive heart failure, and smoking. RESULTS: Two thousand eight hundred thirty-nine patients aged 45-64 and 1828 patients aged 65+ underwent SSRF. No significant difference in clinical outcomes was noted between these groups. Analysis showed that the association of SSRF with ventilator-associated pneumonia, unplanned intubation, acute respiratory distress syndrome, in-hospital mortality, FTR after a major complication, or FTR after a respiratory complication did not vary by age (P > 0.05). Black (odds ratio [OR] 0.67; 95% confidence interval [CI]: 0.59-0.77; P < 0.001), Hispanic (OR 0.80; 95% CI: 0.71-0.91; P < 0.001), and Medicaid (OR = 0.85; 95% CI = 0.76-0.95; P = 0.005) patients were less likely to receive SSRF. CONCLUSIONS: No differences in clinical outcomes were measured between adults aged 45-64 and ≥65 who underwent SSRF. Older age should not preclude patients from receiving SSRF. Further work is needed to improve underutilization in Black, Hispanic and Medicaid patients.

5.
Appl Opt ; 61(17): 5282-5288, 2022 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-36061815

RESUMO

In order to image live cells for prolonged periods of time, an Arduino-based, low-cost imaging incubator was constructed. The imaging incubator keeps cells viable by controlling for temperature and CO 2 in order to maintain physiological conditions for cells during imaging. All devices and parts employed in the build were typical maker-type components in order to minimize the cost of the imaging incubator. The imaging incubator allows for real-time imaging of live cells exposed to any desired perturbation or stimulus. As a proof of the system's functionality, cells are imaged over 24 hours while remaining viable in the imaging incubator.


Assuntos
Diagnóstico por Imagem , Incubadoras , Temperatura
6.
Am J Emerg Med ; 47: 327.e1-327.e2, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33678484

RESUMO

Cardiac hemangiomas are exceedingly rare and can lead to cardiac tamponade. Cardiac tamponade is a true medical emergency that can cause cardiovascular collapse and death if not managed appropriately. There are many causes of cardiac tamponade such as trauma, autoimmune causes, and malignancy. Cardiac tumors are difficult to diagnose and may be present on advanced imaging including cardiac MRI. For patients with cardiac tumors causing tamponade, emergent pericardiocentesis and cardiovascular surgery consultation are necessary in management. We present a unique case of cardiac tamponade caused by a cardiac hemangioma.


Assuntos
Tamponamento Cardíaco/etiologia , Neoplasias Cardíacas/complicações , Hemangioma/complicações , Idoso , Feminino , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Hemangioma/diagnóstico , Hemangioma/patologia , Hemangioma/cirurgia , Humanos
7.
Lab Invest ; 100(1): 4-15, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31409885

RESUMO

Programmed death 1 ligand 1 (PD-L1) Immunohistochemistry (IHC) is the key FDA-approved predictive marker to identify responders to anti-PD1 axis drugs. Multiple PD-L1 IHC assays with various antibodies and cut points have been used in clinical trials across tumor types. Comparative performance characteristics of these assays have been extensively studied qualitatively but not quantitatively. Here we evaluate the use of a standardized PD-L1 Index tissue microarray (TMA) to objectively determine agreement between antibody assays for PD-L1 applying quantitative digital image analysis. Using a specially constructed Index TMA containing a panel of ten isogenic cell lines in triplicate, we tested identical but independently grown batches of isogenic cells to prove Index TMAs can be produced in large quantities and hence serve as a standardization tool. Then the Index TMAs were evaluated using quantitative immunofluorescence (QIF) to validate the TMA itself and also to compare antibodies including E1L3N, SP142 and SP263. Next, an inter-laboratory and inter-assay comparison of 5 PD-L1 chromogenic IHC assays (US Food and Drug Administration (FDA) approved and lab developed test (LDT)) were performed at 12 sites around the USA. As previously reported, the SP142 FDA assay failed to detect low levels of PD-L1 in cell lines distinguished by the other four assays. The assays for 22C3 FDA, 28-8-FDA, SP263 FDA, and E1L3N LDT were highly similar across sites and all laboratories showed a high consistency over time for all assays using this Index TMA. In conclusion, we were able to objectively quantify PD-L1 expression on a standardized Index TMA using digital image analysis and we confirmed previous subjective assessments of these assays, but now in a multi-institutional setting. We envision commercial use of this Index TMA or similar smaller version as a useful standardization mechanism to compare results between institutions and to identify abnormalities while running routine clinical samples.


Assuntos
Antígeno B7-H1/análise , Imunofluorescência , Linhagem Celular , Análise Serial de Tecidos
8.
Neurobiol Dis ; 134: 104635, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31669734

RESUMO

Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17). The underlying disease mechanism in the polyQ diseases is thought principally to reflect dominant toxic properties of the disease proteins which, when harboring a polyQ expansion, differentially interact with protein partners and are prone to aggregate. Among the polyQ diseases, SCA3 is the most common SCA, and second to HD in prevalence worldwide. Here we summarize current understanding of SCA3 disease mechanisms within the broader context of the broader polyQ disease field. We emphasize properties of the disease protein, ATXN3, and new discoveries regarding three potential pathogenic mechanisms: 1) altered protein homeostasis; 2) DNA damage and dysfunctional DNA repair; and 3) nonneuronal contributions to disease. We conclude with an overview of the therapeutic implications of recent mechanistic insights.


Assuntos
Doença de Machado-Joseph , Peptídeos , Animais , Humanos , Expansão das Repetições de Trinucleotídeos
9.
Hum Mol Genet ; 26(17): 3362-3374, 2017 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-28854700

RESUMO

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene. This expansion leads to misfolding and aggregation of mutant ataxin-3 (ATXN3) and degeneration of select brain regions. A key unanswered question in SCA3 and other polyglutamine diseases is the extent to which neurodegeneration is mediated through gain-of-function versus loss-of-function. To address this question in SCA3, we performed transcriptional profiling on the brainstem, a highly vulnerable brain region in SCA3, in a series of mouse models with varying degrees of ATXN3 expression and aggregation. We include two SCA3 knock-in mouse models: our previously published model that erroneously harbors a tandem duplicate of the CAG repeat-containing exon, and a corrected model, introduced here. Both models exhibit dose-dependent neuronal accumulation and aggregation of mutant ATXN3, but do not exhibit a behavioral phenotype. We identified a molecular signature that correlates with ATXN3 neuronal aggregation yet is primarily linked to oligodendrocytes, highlighting early white matter dysfunction in SCA3. Two robustly elevated oligodendrocyte transcripts, Acy3 and Tnfrsf13c, were confirmed as elevated at the protein level in SCA3 human disease brainstem. To determine if mutant ATXN3 acts on oligodendrocytes cell-autonomously, we manipulated the repeat expansion in the variant SCA3 knock-in mouse by cell-type specific Cre/LoxP recombination. Changes in oligodendrocyte transcripts are driven cell-autonomously and occur independent of neuronal ATXN3 aggregation. Our findings support a primary toxic gain of function mechanism and highlight a previously unrecognized role for oligodendrocyte dysfunction in SCA3 disease pathogenesis.


Assuntos
Ataxina-3/genética , Ataxias Espinocerebelares/genética , Animais , Ataxina-3/metabolismo , Receptor do Fator Ativador de Células B/metabolismo , Encéfalo/metabolismo , Tronco Encefálico , Modelos Animais de Doenças , Éxons , Humanos , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/metabolismo , Camundongos , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Oligodendroglia/metabolismo , Peptídeos/metabolismo , Proteínas Repressoras/metabolismo , Ataxias Espinocerebelares/metabolismo , Repetições de Trinucleotídeos
10.
Ann Neurol ; 84(1): 64-77, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29908063

RESUMO

OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common dominantly inherited ataxia. Despite advances in understanding this CAG repeat/polyglutamine expansion disease, there are still no therapies to alter its progressive fatal course. Here, we investigate whether an antisense oligonucleotide (ASO) targeting the SCA3 disease gene, ATXN3, can prevent molecular, neuropathological, electrophysiological, and behavioral features of the disease in a mouse model of SCA3. METHODS: The top ATXN3-targeting ASO from an in vivo screen was injected intracerebroventricularly into early symptomatic transgenic SCA3 mice that express the full human disease gene and recapitulate key disease features. Following a single ASO treatment at 8 weeks of age, mice were evaluated longitudinally for ATXN3 suppression and rescue of disease-associated pathological changes. Mice receiving an additional repeat injection at 21 weeks were evaluated longitudinally up to 29 weeks for motor performance. RESULTS: The ATXN3-targeting ASO achieved sustained reduction of polyglutamine-expanded ATXN3 up to 8 weeks after treatment and prevented oligomeric and nuclear accumulation of ATXN3 up to at least 14 weeks after treatment. Longitudinal ASO therapy rescued motor impairment in SCA3 mice, and this rescue was associated with a recovery of defects in Purkinje neuron firing frequency and afterhyperpolarization. INTERPRETATION: This preclinical study established efficacy of ATXN3-targeted ASOs as a disease-modifying therapeutic strategy for SCA3. These results support further efforts to develop ASOs for human clinical trials in this polyglutamine disease as well as in other dominantly inherited disorders caused by toxic gain of function. Ann Neurol 2018;83:64-77.


Assuntos
Ataxina-3/química , Regulação da Expressão Gênica/efeitos dos fármacos , Doença de Machado-Joseph/tratamento farmacológico , Oligonucleotídeos Antissenso/uso terapêutico , Potenciais de Ação/efeitos dos fármacos , Potenciais de Ação/genética , Fatores Etários , Animais , Apoptose/efeitos dos fármacos , Apoptose/genética , Ataxina-3/genética , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Proteínas de Ligação ao Cálcio/metabolismo , Modelos Animais de Doenças , Comportamento Exploratório/efeitos dos fármacos , Feminino , Regulação da Expressão Gênica/genética , Gliose/tratamento farmacológico , Gliose/etiologia , Doença de Machado-Joseph/genética , Doença de Machado-Joseph/patologia , Doença de Machado-Joseph/fisiopatologia , Masculino , Camundongos , Camundongos Transgênicos , Proteínas dos Microfilamentos/metabolismo , Atividade Motora/efeitos dos fármacos , Atividade Motora/genética , Mutação/genética , Células de Purkinje/efeitos dos fármacos , Células de Purkinje/patologia , Proteínas de Ligação a RNA/metabolismo
11.
J Nerv Ment Dis ; 206(9): 744-747, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30124575

RESUMO

A 54-year-old otherwise healthy man presented with altered mental status. On admission, the patient was confused and agitated, with a Glasgow Coma Scale (GCS) score of 11, suggesting moderate brain injury. He was sedated, placed on a ventilator, and started on tobramycin and ceftazidime for presumed bacterial meningitis, but switched to ceftriaxone once cultures returned as Escherichia coli. During his 8-day hospitalization, his mental status fluctuated from confused to nonresponsive, with GCS scores between 6 and 11. Although E. coli meningitis has a high rate of neurological complications and death, this patient recovered completely without any deficits, and recalled an elaborate near-death experience that occurred during his coma. This case highlights the importance of studying near-death experiences occurring during compromised brain function to further our understanding of the brain and consciousness.


Assuntos
Ceftriaxona/uso terapêutico , Coma/tratamento farmacológico , Meningite devida a Escherichia coli/tratamento farmacológico , Coma/etiologia , Humanos , Masculino , Meningite devida a Escherichia coli/complicações , Pessoa de Meia-Idade , Recuperação de Função Fisiológica , Resultado do Tratamento
12.
Conscious Cogn ; 51: 116-124, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28329717

RESUMO

Near-death experiences are vivid, life-changing experiences occurring to people who come close to death. Because some of their features, such as enhanced cognition despite compromised brain function, challenge our understanding of the mind-brain relationship, the question arises whether near-death experiences are imagined rather than real events. We administered the Memory Characteristics Questionnaire to 122 survivors of a close brush with death who reported near-death experiences. Participants completed Memory Characteristics Questionnaires for three different memories: that of their near-death experience, that of a real event around the same time, and that of an event they had imagined around the same time. The Memory Characteristics Questionnaire score was higher for the memory of the near-death experience than for that of the real event, which in turn was higher than that of the imagined event. These data suggest that memories of near-death experiences are recalled as "realer" than real events or imagined events.


Assuntos
Morte , Imaginação/fisiologia , Memória Episódica , Rememoração Mental/fisiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
14.
J Educ Teach Emerg Med ; 9(2): S1-S26, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38707944

RESUMO

Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of two concurrent conditions: septic abortion and disseminated intravascular coagulation (DIC). Introduction: Patients with an abortion (spontaneous or induced) of less than twenty weeks gestation may present with concurrent uterine infection, also known as septic abortion. One of the complications of septic abortion is DIC. Early management of both underlying etiology (septic abortion) and subsequent complications (DIC) is crucial to minimize morbidity and mortality. Educational Objectives: At the conclusion of the simulation session, learners will be able to: 1) Obtain a relevant focused history including pregnancy history, medication use, and past medical history. 2) Develop a differential for fever and vaginal bleeding in a pregnant patient. 3) Discuss management of septic abortion, including empiric broad-spectrum antibiotics and obstetric consultation for source control with dilation and curettage (D&C). 4) Discuss expected laboratory findings of disseminated intravascular coagulation (DIC). 5) Discuss management of DIC, including identification of underlying etiology and supportive resuscitation with blood products. 6) Review the components of blood products. 7) Identify appropriate disposition of the patient to the intensive care unit (ICU). Educational Methods: This session was conducted using high-fidelity simulation followed by a debriefing session and discussion about the diagnosis, differential, and management of both septic abortion and DIC. Debriefing methods may be left to the discretion of participants, but the authors have utilized advocacy-inquiry techniques. In this technique, the facilitator described something they observed in the case, outlined their reasoning as a facilitator why this observation was important or why they had questions, and then asked the learners to share their frame of reference at the time. An example: "I heard the team leader state that the platelets were normal, but then another resident disagreed. No one paused to come to a consensus. I'm wondering why this wasn't explored further in real time. Tell me more." This scenario may also be run as an oral boards case or adapted for other learners such as critical care fellows. Research Methods: Our residents were provided a survey at the completion of the debriefing session so they could rate different aspects of the simulation, as well as provide qualitative feedback on the scenario. The local institution's simulation center's electronic feedback form is based on the Center of Medical Simulation's Debriefing Assessment for Simulation in Healthcare (DASH) Student Version Short Form,1 with the inclusion of required qualitative feedback if an element was scored less than a 6 or 7. Results: Thirteen learners completed a feedback form out of seventeen participants. This session received all six and seven scores (consistently effective/very good and extremely effective/outstanding, respectively) other than two isolated 4 scores. Discussion: This is a cost-effective method for reviewing septic abortion and DIC. The case may be modified for appropriate audiences, such as simplifying the case to septic abortion without DIC. You can also consider not showing an initial temperature with the initial set of vitals unless it is specifically asked for by the participants. We encourage readers to utilize bleeding moulage techniques as a visual stimulus to increase psychological buy-in. Topics: Medical simulation, septic abortion, pregnancy complications, hematology emergencies, obstetric emergencies, disseminated intravascular coagulation, emergency medicine.

15.
Am Surg ; : 31348241256082, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38767044

RESUMO

A 40-year-old woman admitted for hyponatremia and anasarca due to decompensated cirrhosis after a recent steroid taper developed extremely painful cutaneous breast lesions clinically mimicking cellulitis and inflammatory breast cancer and was biopsy-diagnosed instead with diffuse dermal angiomatosis (DDA) of the breasts, a rare and painful disease that can be a diagnostic chameleon. This case highlights the importance of early surgical consultation and tissue biopsy to correctly diagnose the etiology of severely painful mastitis and prevent prolonged symptomology and repeated administrations of ineffective treatments. Diffuse dermal angiomatosis should be considered when suspected breast cellulitis is refractory to treatment or there is concern for inflammatory breast cancer, especially in pendulous-breasted women with comorbidities that increase susceptibility to local tissue hypoxia.

16.
Mov Disord Clin Pract ; 11(5): 496-503, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38419568

RESUMO

BACKGROUND: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated. OBJECTIVES: To study the prevalence of fatigue in SCAs, the factors contributing to fatigue, and the influence of fatigue on quality of life. METHODS: Fatigue was assessed in 418 participants with SCA1, SCA2, SCA3, and SCA6 from the Clinical Research Consortium for the Study of Cerebellar Ataxia using the Fatigue Severity Scale. We conducted multi-variable linear regression models to examine the factors contributing to fatigue as well as the association between fatigue and quality of life. RESULTS: Fatigue was most prevalent in SCA3 (52.6%), followed by SCA1 (36.7%), SCA6 (35.7%), and SCA2 (35.6%). SCA cases with fatigue had more severe ataxia and worse depressive symptoms. In SCA3, those with fatigue had a longer disease duration and longer pathological CAG repeat numbers. In multi-variable models, depressive symptoms, but not ataxia severity, were associated with more severe fatigue. Fatigue, independent of ataxia and depression, contributed to worse quality of life in SCA3 and SCA6 at baseline, and fatigue continued affecting quality of life throughout the disease course in all types of SCA. CONCLUSIONS: Fatigue is a common symptom in SCAs and is closely related to depression. Fatigue significantly impacts patients' quality of life. Therefore, screening for fatigue should be considered a part of standard clinical care for SCAs.


Assuntos
Fadiga , Qualidade de Vida , Ataxias Espinocerebelares , Humanos , Qualidade de Vida/psicologia , Ataxias Espinocerebelares/psicologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/epidemiologia , Masculino , Fadiga/psicologia , Fadiga/epidemiologia , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Índice de Gravidade de Doença , Prevalência , Depressão/epidemiologia , Depressão/psicologia
17.
J Surg Case Rep ; 2023(9): rjad497, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37724064

RESUMO

Cancer of unknown primary (CUP) is a heterogeneous group of metastatic tumors in the absence of a clinically identifiable site. We describe the case of a 66-year-old female with an extensive history of non-specific imaging concerning for malignancy who did not undergo further workup and in whom a diagnosis of CUP was made. The patient initially presented to her specialist with concern of right leg pain. Imaging at that time was concerning for a progressive malignant process. Given this, the patient was referred urgently for surgery. Final surgical pathology and breast prognostic panel were consistent with metastatic breast carcinoma at that time. Follow-up imaging performed 1-week postoperatively did not show suspicious findings in either breast, further supporting a diagnosis of CUP. To this end, we highlight the importance of follow-up imaging but recognize the challenges facing healthcare professionals in navigating the ethical principles of nonmalificience and beneficence in diagnostic workup.

18.
J Surg Case Rep ; 2023(3): rjad144, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36926632

RESUMO

A 68 year-old woman with no significant medical history discovered a lump incidentally in her left breast. The patient's initial imaging revealed a 4.6-cm irregular mass at 11:00 categorized as a BI-RADS 5 as well as an enlarged axillary lymph node and an area of 2.5 cm of heterogeneous calcifications in the 3 o'clock position. The 4.6-cm lesion was revealed to be infiltrating ductal carcinoma with a squamous component, mixed metaplastic carcinoma, which was strongly ER (100+)/PR (100+) positive, HER-2/Neu negative on FISH. The 2.5-cm calcifications were ductal carcinoma in situ. The patient completed neoadjuvant chemotherapy, and had an excellent response. After further discussion, the patient elected for breast conservation therapy and underwent a left wireless localized partial mastectomy with a left axillary dissection. Surgical pathology revealed a near complete pathologic response with only 8-mm residual tumour as well as a negative conversion of the clipped axillary node.

19.
Biol Rev Camb Philos Soc ; 98(4): 1033-1050, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36843247

RESUMO

In light of rapidly expanding road networks worldwide, there is increasing global awareness of the growing amount of mammalian roadkill. However, the ways in which road mortality affects the population dynamics of different species remains largely unclear. We aimed to categorise the demographic parameters in mammalian populations around the world that are directly or indirectly affected by road mortality, as well as identify the most effective study designs for quantifying population-level consequences of road mortality. We conducted a comprehensive systematic review to synthesise literature published between 2000 and 2021 and out of 11,238 unique studies returned, 83 studies were retained comprising 69 mammalian species and 150 populations. A bias towards research-intensive countries and larger mammals was apparent. Although searches were conducted in five languages, all studies meeting the inclusion criteria were in English. Relatively few studies (13.3%) provided relevant demographic context to roadkill figures, hampering understanding of the impacts on population persistence. We categorised five direct demographic parameters affected by road mortality: sex- and age-biased mortality, the percentage of a population killed on roads per year (values up to 50% were reported), the contribution of roadkill to total mortality rates (up to 80%), and roadkill during inter-patch or long-distance movements. Female-biased mortality may be more prevalent than previously recognised and is likely to be critical to population dynamics. Roadkill was the greatest source of mortality for 28% of studied populations and both additive and compensatory mechanisms to roadkill were found to occur, bringing varied challenges to conservation around roads. In addition, intra-specific population differences in demographic effects of road mortality were common. This highlights that the relative importance of road mortality is likely to be context specific as the road configuration and habitat quality surrounding a population can vary. Road ecology studies that collect data on key life parameters, such as age/stage/sex-specific survival and dispersal success, and that use a combination of methods are critical in understanding long-term impacts. Quantifying the demographic impacts of road mortality is an important yet complex consideration for proactive road management.


Assuntos
Ecossistema , Mamíferos , Animais , Feminino , Dinâmica Populacional , Ecologia
20.
Int J Colorectal Dis ; 27(11): 1455-63, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22430887

RESUMO

BACKGROUND: Fecal antibodies against bacterial products may directly reflect the interaction between luminal bacteria and mucosal immunity, and assays for these antibodies may be clinically useful in the diagnosis and differential diagnosis of Crohn's disease-like (CDL) condition of the pouch. AIMS: This study aims to evaluate stool and serum anti-Saccharomyces cerevisiae antibodies (ASCA) in normal and diseased pouches, to assess the correlation between ASCA levels and endoscopic disease activity, and to ascertain the diagnostic utility of ASCA for CDL of the pouch. METHODS: One hundred eighty-nine patients with ileal pouches were prospectively enrolled and corresponding serum and pouch aspirate samples were collected. Fecal and serum ASCA levels were measured with enzyme-linked immunosorbent assay in a blinded fashion. Statistical analysis was then conducted using the signed rank test, Spearman correlation coefficients, and analysis of variance. RESULTS: Forty-three patients (22.8 %) had irritable pouch syndrome or normal pouches, 74 (39.2 %) had pouchitis/cuffitis, 52 (27.5 %) had CDL, 9 (4.8 %) had familial adenomatous polyposis, and 11 (5.8 %) had surgical complications of the pouch. Receiver operating characteristic curves to distinguish CDL from other categories of pouch dysfunction had an area under the curve (AUC) of 0.608 for fecal ASCA and an AUC of 0.517 for serum ASCA. Neither fecal nor serum ASCA correlated with endoscopic disease activity scores. There was a significant difference in the mean values of fecal ASCA between inflammatory and fistulizing CDL (0.27 vs. 0.03 ELISA units/ml, P < 0.05). CONCLUSIONS: Fecal ASCA appears to be better than serum ASCA in differentiating CDL from other pouch disorders, although this distinction may be of limited clinical utility.


Assuntos
Anticorpos Antifúngicos/sangue , Bolsas Cólicas/microbiologia , Doença de Crohn/diagnóstico , Doença de Crohn/imunologia , Fezes/microbiologia , Saccharomyces cerevisiae/imunologia , Bolsas Cólicas/imunologia , Doença de Crohn/sangue , Demografia , Diagnóstico Diferencial , Endoscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Curva ROC
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