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1.
Ann Emerg Med ; 2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38795078

RESUMEN

STUDY OBJECTIVE: Acute musculoskeletal pain in emergency department (ED) patients is frequently severe and challenging to treat with medications alone. The purpose of this study was to determine the feasibility, acceptability, and effectiveness of adding ED acupuncture to treat acute episodes of musculoskeletal pain in the neck, back, and extremities. METHODS: In this pragmatic 2-stage adaptive open-label randomized clinical trial, Stage 1 identified whether auricular acupuncture (AA; based on the battlefield acupuncture protocol) or peripheral acupuncture (PA; needles in head, neck, and extremities only), when added to usual care was more feasible, acceptable, and efficacious in the ED. Stage 2 assessed effectiveness of the selected acupuncture intervention(s) on pain reduction compared to usual care only (UC). Licensed acupuncturists delivered AA and PA. They saw and evaluated but did not deliver acupuncture to the UC group as an attention control. All participants received UC from blinded ED providers. Primary outcome was 1-hour change in 11-point pain numeric rating scale. RESULTS: Stage 1 interim analysis found both acupuncture styles similar, so Stage 2 continued all 3 treatment arms. Among 236 participants randomized, demographics and baseline pain were comparable across groups. When compared to UC alone, reduction in pain was 1.6 (95% confidence interval [CI]: 0.7 to 2.6) points greater for AA+UC and 1.2 (95% CI: 0.3 to 2.1) points greater for PA+UC patients. Participants in both treatment arms reported high satisfaction with acupuncture. CONCLUSION: ED acupuncture is feasible and acceptable and can reduce acute musculoskeletal pain better than UC alone.

2.
J ECT ; 40(1): 6-9, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37561916

RESUMEN

ABSTRACT: Patients with heart disease are at an increased risk of depression. Electroconvulsive therapy (ECT) is a highly effective treatment for severe depressive episodes. However, ECT may increase the risk for adverse outcomes in certain patients because of changes in blood pressure and heart rate secondary to an initial parasympathetic surge followed by a sympathetic surge and peripheral catecholamine release. In post-cardiac transplant patients, these acute hemodynamic changes on a denervated heart may bring clinical challenges. The available data on ECT in heart transplant patients are limited. The authors of this article present a summary of the available literature relating to ECT in heart transplant patients.The authors performed a literature search of 6 online databases yielding 6 English-language case reports of ECT in cardiac transplant patients. All patients experienced changes in hemodynamic variables during and immediately after ECT, ranging from moderate decrease in blood pressure to extreme hypertension. The cases did not report any serious cardiac complications during the course of ECT. In the 5 patients whose psychiatric responses to treatment were detailed, all had improvement in their depressive symptoms. Electroconvulsive therapy may be considered for severe cases of depression in patients with a history of cardiac transplant, but the potential benefit of ECT needs to be weighed against risks. In the limited number of cases reported in the literature, ECT seems to have been relatively safe and effective.


Asunto(s)
Trastorno Depresivo , Terapia Electroconvulsiva , Trasplante de Corazón , Humanos , Terapia Electroconvulsiva/efectos adversos , Trastorno Depresivo/terapia , Resultado del Tratamiento
3.
J Hepatol ; 73(3): 680-693, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32353483

RESUMEN

Lifestyle modification is the foundation of treatment recommendations for non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). The design of clinical trials in NASH may be impeded by the lack of a systematic approach to identify and evaluate how lifestyle changes and/or modifications influence clinical trial outcomes and associated endpoints. Furthermore, there are additional uncertainties regarding the methods that can be utilised to better characterise and quantify lifestyle variables - which can influence disease activity and alter trial endpoints - to allow for comparisons of trial outcomes across different phases of research and/or within drug-classes. This summary by the Liver Forum's Standard of Care Working Group reviews currently available clinical data, identifies the barriers and challenges associated with the standard of care in NAFLD/NASH clinical trials, defines available assessments of lifestyle changes, and proposes approaches to better understand and define the influence of diet and exercise on NASH treatment in the context of different pharmacologic interventions. The ultimate objective is to propose tangible solutions which enable investigators, sponsors, and regulatory authorities to meaningfully interpret clinical trial outcomes and the impact of lifestyle modification on such outcomes as they pertain to phase I-IV clinical trials.


Asunto(s)
Dieta Saludable/métodos , Terapia por Ejercicio/métodos , Ejercicio Físico , Enfermedad del Hígado Graso no Alcohólico/dietoterapia , Enfermedad del Hígado Graso no Alcohólico/rehabilitación , Adulto , Índice de Masa Corporal , Peso Corporal , Ensayos Clínicos como Asunto , Humanos , Resultado del Tratamiento , Circunferencia de la Cintura
4.
Am J Geriatr Psychiatry ; 28(2): 157-163, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31668364

RESUMEN

OBJECTIVE: Much of the functional disturbance in patients with dementia reflects the presence of noncognitive behavioral and psychological symptoms of dementia (BPSD). Agitation is among the most distressing symptoms for patients, clinicians, and caregivers. Currently no pharmacotherapy has clearly been shown to be of value for this condition. This study used a chart review method to examine the safety and efficacy of electroconvulsive therapy (ECT) for patients with dementia receiving ECT for agitation. METHODS: A retrospective chart review was conducted of patients with dementia presenting with symptoms of aggression or agitation and who received ECT treatments. Aggression and agitation were measured by pre- and post-ECT Pittsburg Agitation Scale (PAS) scores. Detailed history of the use of psychotropic medications as well as other clinically relevant variables was analyzed. FINDINGS: Sixty elderly patients (45 women and 15 men, 75% female, mean age 77.5 ± 8.0 years) were included in the analysis. Most patients were treatment resistant to multiple psychotropic medications prior to ECT (mean number 6.1±1.5). The baseline PAS total was 9.3 ± 3.7 and it decreased significantly after three (2.5±2.8) and six (1.5±2.3) ECT treatments. No significant ECT-related medical complications were observed except transient confusion. A decrease in the number of psychotropics prescribed along with an increase in the GAF score was observed after the ECT treatment course. CONCLUSION: ECT was safe in this sample of patients who had co-morbid medical conditions. ECT was associated with the following observations: 1) a reduction in agitation; 2) a reduction in psychotropic polypharmacy; and 3) an improvement in global functioning level. Further research evaluating the effects of ECT in the setting of dementia is warranted.


Asunto(s)
Agresión/psicología , Demencia/terapia , Terapia Electroconvulsiva/psicología , Agitación Psicomotora/terapia , Anciano , Anciano de 80 o más Años , Terapia Combinada/efectos adversos , Terapia Combinada/psicología , Terapia Combinada/estadística & datos numéricos , Demencia/complicaciones , Demencia/tratamiento farmacológico , Demencia/psicología , Terapia Electroconvulsiva/efectos adversos , Femenino , Humanos , Masculino , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Agitación Psicomotora/complicaciones , Agitación Psicomotora/psicología , Psicotrópicos/uso terapéutico , Estudios Retrospectivos
5.
Curr Psychiatry Rep ; 22(5): 21, 2020 04 13.
Artículo en Inglés | MEDLINE | ID: mdl-32285305

RESUMEN

PURPOSE OF REVIEW: To provide consultation-liaison psychiatrists with an updated resource that can assist in the treatment and management of geriatric patients. RECENT FINDINGS: The current available literature has not shown any differences in efficacy between haloperidol and second-generation antipsychotics in patients with delirium. When considering relative advantages of forms of antipsychotic administration, there is no support for a superior safety profile of oral compared to intramuscular or intravenous administration. A recent meta-analysis of four randomized controlled trials concluded that when melatonin was administered to older age patients on medical wards, it significantly prevented the incidence of delirium when compared with the control group. While suvorexant administered nightly to elderly patients in acute care settings may lower the incidence of delirium, larger studies are needed to confirm this finding. Despite the black box warning of increased mortality risk in older patients with dementia, antipsychotics may be used with caution by the consultation-liaison (CL) psychiatrist to treat the neuropsychologic symptoms of dementia including hallucinations and psychosis in the hospital setting. While antidepressant studies have focused primarily on citalopram and escitalopram in the treatment of agitation in the setting of dementia, these two medications have not been adequately compared directly to other SSRIs for this condition. It is therefore not clear whether citalopram and escitalopram are more efficacious in treating agitation in the setting of dementia when compared to other SSRIs. While the evidence supporting trazodone's use is limited, it is generally well tolerated and is an option as a PRN for irritability and agitation in patients with Alzheimer's and mixed dementia. While there is some evidence to support the use of acetylcholinesterase inhibitors for treating cognitive impairments and hallucinations in Lewy body dementia, the usefulness of these agents in other forms of dementia is not well studied, and those studies did not show any benefit in the management of acute agitation. It is important to note that memantine can cause or exacerbate agitation and may be the cause of behavioral dysregulation. There is no evidence to support the routine use of benzodiazepines for behavioral improvement in patients with dementia. Escitalopram and citalopram do have a unique pharmacokinetic properties in the sense that they have been found to have 50-56% plasma protein binding, compared to sertraline, fluoxetine, and paroxetine (95% or more). Pooled analyses suggest that antidepressants are more effective than placebo in reducing the symptoms of post-stroke depression. SSRIs are considered first-line antidepressants in stroke patients, who are often elderly with underlying cardiovascular problems. Although treatment with SSRIs is recommended for post-stroke depression, there are no studies providing conclusive data on the superiority of a specific drug. Older age is associated with a better outcome from ECT, with remission rates of approximately 73% to 90% in patients over 65 years. ECT is the treatment of choice for patients with psychotic depression, and elderly patients with psychotic depression have been shown to have a higher remission rate and faster time to response than depressed patients without psychotic symptoms. With the average life expectancy increase, it is projected that 19 million people will reach the age of 85 or higher, an increase from 5.5 million in 2010. With an increasing older population, psychiatric consultation in the management of geriatric patients is becoming more necessary. Psychiatrists must be aware of the unique considerations in elderly patients. In this article, we provide evidence-based guidance to the CL psychiatrist on major issues relating to the older age patient, highlighting recent trends in treatment. First, we provide background on the evaluation of the medically hospitalized geriatric patient. As rates of medical and psychiatric illnesses increase with advancing age, elderly patients are more likely to be taking a higher number of medications as compared to younger patients, and physicians must pay special attention to polypharmacy, including side effects and drug interactions in this group. Next, we focus on the diagnosis, management, and unique needs of the geriatric patient presenting with common clinical syndromes of delirium, dementia, and depression. Delirium and dementia are among the most common causes of cognitive impairment in clinical settings yet are often either unrecognized or misdiagnosed as they may have similar signs and symptoms. In addition, depression is prevalent in older adults, especially in those with comorbid medical illness. Depression can be fatal as the rates of suicide are higher in later life than in any other age group. Consultation can improve the management of elderly patients and prevent unnecessary nursing home placement.


Asunto(s)
Antipsicóticos , Trastornos Psicóticos , Anciano , Antidepresivos/uso terapéutico , Antipsicóticos/efectos adversos , Humanos , Trastornos Psicóticos/tratamiento farmacológico , Derivación y Consulta , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico
6.
J Gen Intern Med ; 34(3): 379-386, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30543021

RESUMEN

BACKGROUND: Current treatment options for knee osteoarthritis have limited effectiveness and potentially adverse side effects. Massage may offer a safe and effective complement to the management of knee osteoarthritis. OBJECTIVE: Examine effects of whole-body massage on knee osteoarthritis, compared to active control (light-touch) and usual care. DESIGN: Multisite RCT assessing the efficacy of massage compared to light-touch and usual care in adults with knee osteoarthritis, with assessments at baseline and weeks 8, 16, 24, 36, and 52. Subjects in massage or light-touch groups received eight weekly treatments, then were randomized to biweekly intervention or usual care to week 52. The original usual care group continued to week 24. Analysis was performed on an intention-to-treat basis. PARTICIPANTS: Five hundred fifty-one screened for eligibility, 222 adults with knee osteoarthritis enrolled, 200 completed 8-week assessments, and 175 completed 52-week assessments. INTERVENTION: Sixty minutes of protocolized full-body massage or light-touch. MAIN MEASURES: Primary: Western Ontario and McMaster Universities Arthritis Index. Secondary: visual analog pain scale, PROMIS Pain Interference, knee range of motion, and timed 50-ft walk. KEY RESULTS: At 8 weeks, massage significantly improved WOMAC Global scores compared to light-touch (- 8.16, 95% CI = - 13.50 to - 2.81) and usual care (- 9.55, 95% CI = - 14.66 to - 4.45). Additionally, massage improved pain, stiffness, and physical function WOMAC subscale scores compared to light-touch (p < 0.001; p = 0.04; p = 0.02, respectively) and usual care (p < 0.001; p = 0.002; p = 0.002; respectively). At 52 weeks, the omnibus test of any group difference in the change in WOMAC Global from baseline to 52 weeks was not significant (p = 0.707, df = 3), indicating no significant difference in change across groups. Adverse events were minimal. CONCLUSIONS: Efficacy of symptom relief and safety of weekly massage make it an attractive short-term treatment option for knee osteoarthritis. Longer-term biweekly dose maintained improvement, but did not provide additional benefit beyond usual care post 8-week treatment. TRIAL REGISTRATION: clinicaltrials.gov NCT01537484.


Asunto(s)
Masaje/métodos , Osteoartritis de la Rodilla/diagnóstico , Osteoartritis de la Rodilla/terapia , Dimensión del Dolor/métodos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
7.
Am J Geriatr Psychiatry ; 32(3): 392, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37973485
8.
Artículo en Inglés | MEDLINE | ID: mdl-38821831
10.
Am J Geriatr Psychiatry ; 30(9): 1053, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35680540
13.
Int Psychogeriatr ; 29(5): 717-726, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28095946

RESUMEN

BACKGROUND: Agitation in patients with dementia increases caretaker burden, increases healthcare costs, and worsens the patient's quality of life. Antipsychotic medications, commonly used for the treatment of agitation in patients with dementia have a box warning from the FDA for elevated mortality risk. Electroconvulsive therapy (ECT) has made significant advances over the past several years, and is efficacious in treating a wide range of psychiatric conditions. We provide a systematic review of published literature regarding the efficacy of ECT for the treatment of agitation in patients with dementia (major neurocognitive disorder). METHODS: We searched PubMed, Medline, Google Scholar, UptoDate, Embase, and Cochrane for literature concerning ECT for treating agitation in dementia using the title search terms "ECT agitation dementia;" "ECT aggression dementia;" "ECT Behavior and Psychological Symptoms of Dementia;" and "ECT BPSD." The term "dementia" was also interchanged with "Major Neurocognitive Disorder." No time frame restriction was placed. We attempted to include all publications that were found to ensure a comprehensive review. We found 11 papers, with a total (N) of 216 patients. RESULTS: Limited to case reports, case series, retrospective chart review, retrospective case-control, and an open label prospective study, ECT has demonstrated promising results in decreasing agitation in patients with dementia. Patients who relapsed were found to benefit from maintenance ECT. CONCLUSIONS: Available studies are often limited by concomitant psychotropic medications, inconsistent use of objective rating scales, short follow-up, lack of a control group, small sample sizes, and publication bias. A future randomized controlled trial will pose ethical and methodological challenges. A randomized controlled trial must carefully consider the definition of usual care as a comparison group. Well-documented prospective studies and/or additional case series with explicit selection criteria, a wide range of outcome measures, and less selection bias of the study sample that may favor treatment response, is warranted. ECT may be a promising option for the treatment of aggression and agitation in patients with severe dementia who are refractory to other treatment options, but the limitations of available studies suggest that a cautious approach to future randomized controlled trials is warranted.


Asunto(s)
Demencia/psicología , Terapia Electroconvulsiva , Agitación Psicomotora/terapia , Humanos , Agitación Psicomotora/etiología , Psicotrópicos/uso terapéutico , Calidad de Vida
14.
J ECT ; 33(1): 12-15, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27611300

RESUMEN

Psychiatric medications may have serious and untoward adverse effects such as blurred vision, restlessness, agranulocytosis, muscle rigidity, and tremors. When compared to medications, electroconvulsive therapy (ECT) is becoming a more acceptable treatment due to its efficacy, tolerability, and minimal adverse effect profile. Oral trauma can be an ECT-related adverse effect. We reviewed the published literature on oral health and dental protection in patients undergoing ECT, and found that there are deficits in all guidelines on dental protection during ECT. Dental assessment and treatment before and after ECT is warranted. Given the increased risk of poor oral health in psychiatric patients, and the continued evolution of ECT as a mainstay treatment, it is important that studies be conducted to determine the optimal method of oral protection. If adequate care can be ensured, the risks of ECT-induced oral trauma will be minimized.


Asunto(s)
Terapia Electroconvulsiva/efectos adversos , Terapia Electroconvulsiva/métodos , Salud Bucal , Humanos , Boca/lesiones , Protectores Bucales , Traumatismos de los Dientes/etiología
15.
Psychiatr Q ; 88(2): 295-306, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-27815802

RESUMEN

Resident physicians training in psychiatry in the U.S. are required to master a body of knowledge related to cultural psychiatry; are expected to adopt attitudes that endorse the principles of cultural competence; and finally are expected to acquire specific cultural competence skills that facilitate working effectively with diverse patients. This article first provides an overview of the Accreditation Council for Graduate Medical Education (ACGME) competencies related to cultural competence, as well as the American Academy of Child and Adolescent Psychiatry's (AACAP) recommendations for the cultural competence training of child/adolescent fellows. Next, numerous print and electronic resources that can be used in cultural competence education in psychiatry are reviewed and discussed. Finally, we conclude by providing recommendations for psychiatry residency programs that we culled from model cultural competence curricula.


Asunto(s)
Competencia Cultural/educación , Educación de Postgrado en Medicina/normas , Internado y Residencia , Psiquiatría/educación , Curriculum , Recursos en Salud , Humanos
16.
Psychiatr Q ; 88(2): 271-283, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-27796920

RESUMEN

Many regions in the United States are deficient in mental health services, especially those in rural areas. As a result of these deficiencies, many patients in need of psychiatric services are often left untreated. Although it is clear that telepsychiatry has great potential in improving patient access to mental health care in areas where psychiatric services are deficient, the lack of familiarity with the technology and inadequate training are current barriers to expanding the use of telepsychiatry. A review of telepsychiatry, its clinical applications, and evidence-based literature regarding competencies in graduate medical education related to telepsychiatry are provided. An approach to implementing telepsychiatry into a curriculum is suggested. We also propose an elective clinical experience with resources for didactics or independent study that will enable residents to develop a knowledge base and competence in the practice of telepsychiatry.


Asunto(s)
Curriculum , Educación de Postgrado en Medicina/normas , Internado y Residencia/normas , Psiquiatría/educación , Telemedicina/métodos , Competencia Clínica/normas , Humanos
17.
Int Psychogeriatr ; 28(12): 2101-2104, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27517671

RESUMEN

Lithium is a mood stabilizer rarely associated with drug-induced parkinsonism (DIP). We present a case of an elderly woman with bipolar disorder who developed parkinsonian symptoms after chronic lithium administration despite therapeutic serum levels. Upon evaluation, classic parkinsonian signs of muscle rigidity, tremor, bradykinesia, freezing of gait, and cognitive decline were observed. Initially, she was diagnosed with Parkinson's disease (PD); however, DaTscan SPECT imaging clarified the diagnosis as DIP. As the daily lithium dosage was reduced, the patient's motor symptoms improved. This report emphasizes close monitoring of lithium levels in geriatric populations and the need to consider lithium-induced parkinsonism when PD symptoms appear in chronic lithium users.


Asunto(s)
Trastorno Bipolar/tratamiento farmacológico , Relación Dosis-Respuesta a Droga , Compuestos de Litio , Anciano , Monitoreo de Drogas/métodos , Femenino , Humanos , Compuestos de Litio/administración & dosificación , Compuestos de Litio/efectos adversos , Compuestos de Litio/sangre , Examen Neurológico/métodos , Enfermedad de Parkinson Secundaria/inducido químicamente , Enfermedad de Parkinson Secundaria/diagnóstico , Enfermedad de Parkinson Secundaria/terapia , Psicotrópicos/administración & dosificación , Psicotrópicos/efectos adversos , Psicotrópicos/sangre , Tomografía Computarizada de Emisión de Fotón Único/métodos , Resultado del Tratamiento
18.
Clin Adv Hematol Oncol ; 14(6): 436-46, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27379813

RESUMEN

The use of targeted therapies in patients with genitourinary malignancies has significantly improved outcomes. For example, androgen receptor (AR) pathway inhibitors have improved outcomes for patients with prostate cancer, and antiangiogenic agents have improved outcomes for those with kidney cancer. However, these advances have been accompanied by musculoskeletal side effects that manifest as physical dysfunction. Although the effects of androgen deprivation therapy on skeletal muscle are well-known, an additional concern is that the muscle loss associated with these newer drugs-especially AR pathway inhibitors-may result in insulin resistance and metabolic syndrome, thus increasing the risk for cardiovascular events and diabetes. Antiangiogenic agents also may cause muscle loss, although this has been poorly described in the literature. As these targeted therapies begin to be used in the earlier stages of treatment, there will be a critical need to prevent treatment-related toxicities with nonpharmacologic interventions. Over the past decade, exercise training has emerged as a novel nonpharmacologic adjunctive method to address toxicities resulting from these targeted therapies. Despite numerous studies in patients with prostate cancer, there remains a large gap in our knowledge of the true efficacy of exercise therapy, as well as the best way to prescribe exercise programs. Here, we suggest that the central role of skeletal muscle in the development of side effects of AR pathway inhibitors and antiangiogenic agents may unlock a number of unique opportunities to study how exercise prescriptions can be used more effectively. Resistance training may be a particularly important modality.


Asunto(s)
Trastornos Musculares Atróficos/etiología , Trastornos Musculares Atróficos/terapia , Entrenamiento de Fuerza , Neoplasias Urogenitales/complicaciones , Antagonistas de Andrógenos/efectos adversos , Antagonistas de Andrógenos/uso terapéutico , Antineoplásicos Hormonales/efectos adversos , Antineoplásicos Hormonales/uso terapéutico , Humanos , Terapia Molecular Dirigida , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Estadificación de Neoplasias , Inhibidores de Proteínas Quinasas/uso terapéutico , Resultado del Tratamiento , Neoplasias Urogenitales/diagnóstico , Neoplasias Urogenitales/tratamiento farmacológico , Neoplasias Urogenitales/mortalidad
19.
Cardiol Ther ; 13(1): 117-135, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38117424

RESUMEN

INTRODUCTION: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. METHODS: This study describes the mixed phenotype cohort in the Transthyretin Amyloidosis Outcomes Survey (THAOS). THAOS is an ongoing, longitudinal, observational survey of patients with ATTR amyloidosis, including both hereditary (ATTRv) and wild-type disease, and asymptomatic carriers of pathogenic transthyretin variants. Baseline characteristics of patients with a mixed phenotype (at enrollment or reclassified during follow-up) are described (data cutoff: January 4, 2022). RESULTS: Approximately one-third of symptomatic patients (n = 1185/3542; 33.5%) were classified at enrollment or follow-up as mixed phenotype (median age, 66.5 years). Of those, 344 (29.0%) were reclassified to mixed phenotype within a median 1-2 years of follow-up. Most patients with mixed phenotype had ATTRv amyloidosis (75.7%). The most frequent genotypes were V30M (38.9%) and wild type (24.3%). CONCLUSIONS: These THAOS data represent the largest analysis of a real-world mixed phenotype ATTR amyloidosis population to date and suggest that a mixed phenotype may be more prevalent than previously thought. Patients may also migrate from a primarily neurologic or cardiologic presentation to a mixed phenotype over time. These data reinforce the need for multidisciplinary evaluation at initial assessment and follow-up of all patients with ATTR amyloidosis. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00628745.

20.
PLoS One ; 19(1): e0292435, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38241252

RESUMEN

Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although little is known about the majority of these genotypes. This analysis examined phenotypic characteristics of symptomatic patients with ATTRv amyloidosis enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) with four less frequently reported pathogenic genotypes: F64L (c.250T>C, p.F84L), I68L (c.262A>T, p.I88L), I107V (c.379A>G; p.I127V), and S77Y (c.290C>A; p.S97Y). THAOS is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both ATTRwt and ATTRv amyloidosis. This analysis describes the baseline demographic and clinical characteristics of untreated symptomatic patients with the F64L, I68L, I107V, or S77Y genotypes at enrollment in THAOS (data cutoff date: January 4, 2022). There were 141 symptomatic patients with F64L (n = 46), I68L (n = 45), I107V (n = 21), or S77Y (n = 29) variants at the data cutoff. Most patients were male and median age at enrollment was in the sixth decade for S77Y patients and the seventh decade for the others. A predominantly neurologic phenotype was associated with F64L, I107V, and S77Y genotypes, whereas patients with the I68L genotype presented with more pronounced cardiac involvement. However, a mixed phenotype was also reported in a considerable proportion of patients in each variant subgroup. This analysis from THAOS represents the largest study of ATTRv symptomatic patients with the F64L, I68L, I107V, and S77Y genotypes. These data add to the limited knowledge on the clinical profile of patients with specific ATTRv variants and emphasize the importance of comprehensive assessment of all patients. Trial registration ClinicalTrials.gov: NCT00628745.


Asunto(s)
Neuropatías Amiloides Familiares , Femenino , Humanos , Masculino , Neuropatías Amiloides Familiares/genética , Neuropatías Amiloides Familiares/complicaciones , Genotipo , Fenotipo , Prealbúmina/genética , Encuestas y Cuestionarios , Persona de Mediana Edad , Anciano
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