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2.
N Engl J Med ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39213194

RESUMEN

BACKGROUND: Transthyretin amyloidosis with cardiomyopathy (ATTR-CM) is a progressive, fatal disease. Vutrisiran, a subcutaneously administered RNA interference therapeutic agent, inhibits the production of hepatic transthyretin. METHODS: In this double-blind, randomized trial, we assigned patients with ATTR-CM in a 1:1 ratio to receive vutrisiran (25 mg) or placebo every 12 weeks for up to 36 months. The primary end point was a composite of death from any cause and recurrent cardiovascular events. Secondary end points included death from any cause, the change from baseline in the distance covered on the 6-minute walk test, and the change from baseline in the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS) score. The efficacy end points were assessed in the overall population and in the monotherapy population (the patients who were not receiving tafamidis at baseline) and were tested hierarchically. RESULTS: A total of 655 patients underwent randomization; 326 were assigned to receive vutrisiran and 329 to receive placebo. Vutrisiran treatment led to a lower risk of death from any cause and recurrent cardiovascular events than placebo (hazard ratio in the overall population, 0.72; 95% confidence interval [CI], 0.56 to 0.93; P = 0.01; hazard ratio in the monotherapy population, 0.67; 95% CI, 0.49 to 0.93; P = 0.02) and a lower risk of death from any cause through 42 months (hazard ratio, 0.65; 95% CI, 0.46 to 0.90; P = 0.01). A primary end-point event occurred in 163 patients in the vutrisiran group and in 202 in the placebo group. In the overall population, treatment with vutrisiran resulted in less of a decline in the distance covered on the 6-minute walk test than placebo (least-squares mean difference, 26.5 m; 95% CI, 13.4 to 39.6; P<0.001) and less of a decline in the KCCQ-OS score (least-squares mean difference, 5.8 points; 95% CI, 2.4 to 9.2; P<0.001). Similar benefits were observed in the monotherapy population. The incidence of adverse events was similar in the two groups (99% in the vutrisiran group and 98% in the placebo group); serious adverse events occurred in 62% of the patients in the vutrisiran group and in 67% of those in the placebo group. CONCLUSIONS: Among patients with ATTR-CM, treatment with vutrisiran led to a lower risk of death from any cause and cardiovascular events than placebo and preserved functional capacity and quality of life. (Funded by Alnylam Pharmaceuticals; HELIOS-B ClinicalTrials.gov number, NCT04153149.).

3.
Rev. cienc. salud (Bogotá) ; 22(2): 1-15, 20240531.
Artículo en Español | LILACS | ID: biblio-1555035

RESUMEN

Introducción: la fragilidad, entendida como un estado previo a la discapacidad, confiere mayor vulnerabi-lidad a estresores externos y contribuye a desenlaces negativos como caídas, hospitalización, discapacidad y mortalidad. El objetivo de este estudio fue identificar su prevalencia y evaluar los factores asociados en los pacientes del Servicio Ambulatorio de Geriatría del Hospital Universitario San Ignacio (husi) en Bogotá (Colombia). Materiales y métodos: estudio de corte transversal con 689 pacientes atendidos en la consulta externa de geriatría del husi entre agosto de 2016 y marzo de 2020. Mediante regresiones logísticas se iden-tificaron los factores relacionados con la fragilidad. Resultados: la prevalencia fue del 35.4 %. En el análisis bivariado, las variables asociadas con la fragilidad fueron edad mayor de 80 años (or: 2.07; ic95 %: 1.40-3.20; p = 0.001), sexo femenino (or: 1.40; ic95 %: 0.99-2.02; p = 0.03), multimorbilidad (or: 2.13; ic95 %: 1.40-2.90; p < 0.001) y malnutrición (or: 2.23; ic95 %: 1.22-4.07; p = 0.009). En el análisis multivariado, la multimor-bilidad (or: 2.46; ic95 %: 1.62-3.75; p = 0.001), la velocidad de la marcha lenta (or: 5.15; ic95 %: 3.0-8.60; p = 0.001) y el perímetro de pantorrilla bajo (or: 1.60; ic95 %: 1.03-2.50; p = 0.06) se vincularon con la fragilidad. Conclusión: la prevalencia de fragilidad en el servicio de geriatría del husies mayor a la de los referentes nacionales; adicionalmente, las variables analizadas coinciden con las encontradas en la literatura; todo esto respecto a la gran complejidad clínica de los pacientes. Es clave la detección de los factores que se asocian con fragilidad, a fin de intervenirlos y prevenir desenlaces adversos


Introduction: Frailty, understood as a pre-disability state, increases vulnerability to external stressors and contributes to negative outcomes such as falls, hospitalization, disability, and mortality. This study aims to identify the prevalence of frailty and assess the associated factors in patients attending the geriatric outpatient service of the Hospital Universitario San Ignacio (husi). Materials and methods: A cross-sectional study involving 689 patients treated at the husigeriatric outpatient clinic between August 2016 and March 2020. Logistic regressions were conducted to identify factors associated with frailty. Results: The prevalence of frailty was 35.4 %. In bivariate analysis, variables associated with frailty included age over 80 years (or: 2.07; ci95 %: 1.40-3.20; p = 0.001), female sex (or: 1.40; ci95 %:0.99-2.02; p= 0.03), multimorbidity (or: 2.13; ci95 %:1.40-2.90; p < 0.001) and malnutrition (or: 2.23; ci95 %: 1.22-4.07; p = 0.009). In multivariate analysis, multimorbidity (or: 2.46; ci95 %: 1.62-3.75; p = 0.001), slow walking speed (or: 5.15; ci95 %: 3.0-8.60; p = 0.001) and low calf perimeter (or: 1.60; ci95 %: 1.03-2.50; p = 0.06) were associated with frailty. Conclusion: The prevalence of frailty in our center exceeds national references; and the identified variables align with those reported in the literature; reflecting the considerable clin-ical complexity of our patients. Detecting factors associated with frailty is crucial for intervention and prevention of adverse outcomes


ntrodução: a fragilidade, entendida como um estado anterior à incapacidade, confere maior vulnerabi-lidade a estressores externos e contribui para desfechos negativos como quedas, hospitalização, incapa-cidade e mortalidade. O objetivo deste estudo foi identificar a prevalência e avaliar os fatores associados à fragilidade em pacientes do ambulatório de geriatria do Hospital Universitário San Ignacio (husi) de Bogotá, Colômbia. Materiais e métodos: estudo transversal com 689 pacientes atendidos no ambulatório de geriatria do husi entre agosto de 2016 e março de 2020. Foram realizadas regressões logísticas para identificar fatores associados à fragilidade. Resultados: a prevalência de fragilidade foi de 35.4 %. Na análise bivariada, as variáveis associadas à fragilidade foram: idade acima de 80 anos (or:2.07; ic95 %:1.40-3,20; p = 0.001), gênero feminino (or:1.40; ic95 %:0.99-2.02; p = 0.03), multimorbidade (or: 2.13; ic95 %: 1.40-2.90; p < 0.001) e desnutrição (or:2.23; ic95 %:1.22-4.07; p = 0.009). Na análise multivariada, multimorbidade (or:2.46; ic95 %: 1.62-3.75; p = 0.001), velocidade lenta de caminhada (or:5.15; ic95 %:3.0-8.60; p = 0.001) e baixa circunferência da panturrilha (or: 1.60; ic95 %: 1.03-2.50; p = 0.06) foram associados à fragilidade. Conclusão: a prevalência de fragilidade no husi é superior à das referências nacionais; adicionalmente, as variáveis associadas coincidem com as encontradas na literatura; tudo isso em relação à grande complexidade clínica dos nossos pacientes. É fundamental detectar os fatores associados à fragilidade para intervir e prevenir resultados adversos


Asunto(s)
Humanos , Anciano Frágil , Medicina Hospitalar
4.
Knee Surg Sports Traumatol Arthrosc ; 32(3): 713-724, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38385776

RESUMEN

PURPOSE: Patellofemoral instability (PFI) is a common condition that can be caused from multiple factors, including lower limb rotational malalignments. Determining precise criteria for performing corrective torsional osteotomy can be a daunting task due to the lack of consensus on normal and excessive values and the limited evidence-based data in the postoperative results. The purpose was to assess the clinical, functional and imaging outcomes following derotational distal femoral osteotomy (DDFO) in patients with PFI and/or anterior knee pain (AKP) associated with lower limb rotational malalignments. METHODS: Searches were conducted on PubMed, EMBASE and Web of Science databases up to October 2023. Studies reporting outcomes after DDFO in patients with PFI and/or AKP were eligible for the systematic review. The primary outcome was imaging metrics, especially femoral anteversion. Secondary outcomes included the patient-reported outcome measures (PROMs) (clinical and functional). Quantitative synthesis involved the use of weighted averages to calculate pre- to postoperative mean differences (MD) and compare them against the minimal clinically important difference (MCID). RESULTS: Ten studies (309 knees) were included with a mean follow-up of 36.1 ± 11.7 months. Imaging outcomes consistently indicated the correction of femoral anteversion (MD = -19.4 degrees, 95% confidence interval: -20.1 to -18.7) following DDFO. PROMs showed significant improvements in most studies, exceeding the MCID. Patient satisfaction with the DDFO was high (93.3%). CONCLUSIONS: The DDFO was an effective treatment option for correcting excessive femoral anteversion in patients with PFI associated with clinically relevant functional and clinical improvement and a high satisfaction rate. LEVEL OF EVIDENCE: Level IV, systematic review of level II-IV studies.


Asunto(s)
Fémur , Inestabilidad de la Articulación , Osteotomía , Articulación Patelofemoral , Humanos , Osteotomía/métodos , Inestabilidad de la Articulación/cirugía , Articulación Patelofemoral/cirugía , Articulación Patelofemoral/diagnóstico por imagen , Fémur/cirugía , Medición de Resultados Informados por el Paciente
5.
Artículo en Inglés | MEDLINE | ID: mdl-38363024

RESUMEN

PURPOSE: The purpose of this study was to evaluate the impact of gender on the efficacy of platelet-rich plasma (PRP) in patients with knee osteoarthritis (KOA), comparing their short-term response between men and women. METHODS: Four hundred-eighteen patients (529 knees) were included. Patients were treated with three injections of PRP on a weekly basis. Blood and PRP samples were randomly tested. Patients were asked to complete the knee injury and osteoarthritis outcome score (KOOS) and 12-item short form survey (SF-12), at baseline and 6 months. Success rates were calculated according to a reduction in the pain score of at least 9.3 points [minimal clinically important improvement (MCII)]. Comparative tests and multivariate regression were performed. RESULTS: The PRP had a platelet concentration factor of 2.0X compared to blood levels, with no leucocytes or erythrocytes. KOOS scores showed an increase from baseline to 6 months (p < 0.0001). There was an increase in the physical component summary (PCS) (p < 0.0001) and mental component summary (MCS) (p < 0.01) of the SF-12. The number of knees of women with MCII was 156 out of 262 (59.6%), whereas the number of knees of men was 136 out of 267 (50.9%) (p = 0.0468). Women had worse baseline scores on pain (p = 0.009), PCS (p < 0.0001) and MCS (p < 0.0001). CONCLUSION: Although the symptomatology generated by KOA was worse in women when compared to men, treatment with repeated injections of PRP was effective, ultimately achieving a higher improvement in women providing comparable final follow-up outcomes between men and women. LEVEL OF EVIDENCE: Level IV.

7.
Nat Commun ; 14(1): 6044, 2023 09 28.
Artículo en Inglés | MEDLINE | ID: mdl-37758709

RESUMEN

Menopause is associated with cognitive deficits and brain atrophy, but the brain region and cell-specific mechanisms are not fully understood. Here, we identify a sex hormone by age interaction whereby loss of ovarian hormones in female mice at midlife, but not young age, induced hippocampal-dependent cognitive impairment, dorsal hippocampal atrophy, and astrocyte and microglia activation with synaptic loss. Selective deletion of estrogen receptor beta (ERß) in astrocytes, but not neurons, in gonadally intact female mice induced the same brain effects. RNA sequencing and pathway analyses of gene expression in hippocampal astrocytes from midlife female astrocyte-ERß conditional knock out (cKO) mice revealed Gluconeogenesis I and Glycolysis I as the most differentially expressed pathways. Enolase 1 gene expression was increased in hippocampi from both astrocyte-ERß cKO female mice at midlife and from postmenopausal women. Gain of function studies showed that ERß ligand treatment of midlife female mice reversed dorsal hippocampal neuropathology.


Asunto(s)
Astrocitos , Receptor beta de Estrógeno , Animales , Femenino , Ratones , Astrocitos/metabolismo , Encéfalo/metabolismo , Cognición , Receptor beta de Estrógeno/genética , Receptor beta de Estrógeno/metabolismo , Neuronas/metabolismo
8.
Leuk Lymphoma ; 64(12): 2008-2017, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37554059

RESUMEN

Tyrosine kinase inhibitors (TKIs) have revolutionized the management of patients with chronic myelogenous leukemia (CML); however, they may cause cardiovascular (CV) toxicities. In this cross-sectional study, we explored whether high-sensitivity C-reactive protein (hsCRP) and novel markers of vascular dysfunction were associated with exposure to specific TKIs, in 262 CML patients. Hs-CRP level was not associated with CML disease activity or treatment with a specific TKI. Body mass index (OR: 1.15, 95% CI: 1.108-1.246; p < 0.001) and CML duration (OR: 1.004, 95% CI: 1.001-1.008; p = 0.024) were independently associated with higher hs-CRP. In exploratory analyses, novel endothelial-centric markers (e.g. ET-1 and VCAM-1) were differential across the various TKIs, particularly amongst nilotinib- and ponatinib-treated patients. While Levels of hs-CRP do not appear to be correlated with specific TKIs, circulating markers of vascular dysfunction were altered in patients treated with specific TKIs and should be explored as potential markers of TKI-associated CV risk.


Asunto(s)
Proteína C-Reactiva , Leucemia Mielógena Crónica BCR-ABL Positiva , Humanos , Inhibidores de Proteínas Quinasas/efectos adversos , Estudios Transversales , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Biomarcadores
9.
Knee Surg Sports Traumatol Arthrosc ; 31(10): 4246-4256, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37302993

RESUMEN

PURPOSE: To evaluate the efficacy of applying a combination of intrameniscal and intraarticular infiltrations of Platelet-Rich Plasma (PRP) in patients with meniscal tears, analyzing its failure rate and clinical evolution, as well as factors that may influence the positive response to this treatment. METHODS: Three hundred and ninety-two cases out of 696 met the inclusion criteria and were included in this work. Survival and patient-reported outcome measure (PROM) were collected and analyzed. Survival rate was defined as the percentage of patients who did not undergo meniscus surgery during their follow-up time. Patients were asked to complete the Knee injury and Osteoarthritis Outcome Score (KOOS) at baseline, 6 months and 18 months. Other patient- and pathology-related variables were collected. Blood and PRP samples were randomly tested as a quality control measure. Survival and comparative statistical tests, and multivariate regression were performed for the analysis of the variables. RESULTS: The PRP applied had a platelet concentration factor of 1.9X in respect to blood levels, with no leukocytes or erythrocytes. Thirty-eight patients required surgical intervention after treatment reaching a survival rate of 90.3% with an estimated mean survival time of 54.4 months. The type of injury (P = 0.002) and the presence of chondropathy were risk factors for surgical intervention after PRP treatment (P = 0.043). All KOOS scores showed a significant statistical increase from baseline to 6 months (N = 93) and 18 months (N = 66) (P < 0.0001). The number of cases with minimal clinically important improvement (MCII) at 6 months and 18 months post-treatment was 65 (69.9%) and 43 (65.2%), respectively. CONCLUSION: The combination of intrameniscal and intraarticular PRP infiltrations is a valid conservative treatment for meniscal injuries avoiding the need for surgical intervention. Its efficacy is higher in horizontal tears and decreases when joint degeneration is present. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Enfermedades de los Cartílagos , Osteoartritis de la Rodilla , Osteoartritis , Plasma Rico en Plaquetas , Humanos , Tasa de Supervivencia , Resultado del Tratamiento , Tratamiento Conservador , Inyecciones Intraarticulares , Osteoartritis de la Rodilla/patología
10.
Can J Kidney Health Dis ; 10: 20543581231165711, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37101848

RESUMEN

Introduction and Objective: Amyloidoses are a heterogeneous group of disorders resulting from deposition of amyloid fibrils into extracellular tissues. While the kidneys are one of the most frequent sites of amyloid deposition, amyloid deposits can also affect a wide range of organ systems, including the heart, liver, gastrointestinal tract, and peripheral nerves. The prognosis of amyloidosis, especially with cardiac involvement, remains poor; however, a collaborative approach applying new tools for diagnosis and management may improve outcomes. In September 2021, the Canadian Onco-Nephrology Interest Group hosted a symposium to discuss diagnostic challenges and recent advances in the management of amyloidosis from the perspectives of the nephrologist, cardiologist, and onco-hematologist. Methods and Sources of Information: Through structured presentations, the group discussed a series of cases highlighting the varied clinical presentations of amyloidoses affecting the kidney and heart. Expert opinions, clinical trial findings, and publication summaries were used to illustrate patient-related and treatment-related considerations in the diagnosis and management of amyloidoses. Key findings: (1) Overview of the clinical presentation of amyloidoses and the role of specialists in performing timely and accurate diagnostic workup; (2) review of best practices for multidisciplinary management of amyloidosis, including prognostic variables and determinants of treatment response; and (3) update on new and emerging treatments in the management of light chain and amyloid transthyretin amyloidoses. Limitations: This conference featured multidisciplinary discussion of cases, and learning points reflect the assessments by the involved experts/authors. Implications: Identification and management of amyloidoses can be facilitated with a multidisciplinary approach and higher index of suspicion from cardiologists, nephrologists, and hemato-oncologists. Increased awareness of clinical presentations and diagnostic algorithms for amyloidosis subtyping will lead to more timely interventions and improved clinical outcomes.


Introduction et objectifs: Les amyloïdoses sont un groupe hétérogène de troubles résultant du dépôt de fibrilles amyloïdes dans les tissus extracellulaires. Les reins sont un des sites les plus fréquents de dépôts amyloïdes, mais ces derniers peuvent également affecter un large éventail de systèmes et d'organes, notamment le cœur, le foie, le tractus gastro-intestinal et les nerfs périphériques. Le pronostic de l'amyloïdose, en particulier en cas d'atteinte cardiaque, est mauvais. Les résultats peuvent cependant être améliorés par une approche collaborative utilisant de nouveaux outils de diagnostic et de prise en charge. En septembre 2021, le Canadian Onco-Nephrology Interest Group (groupe canadien d'intérêt en onco-néphrologie) a organisé un symposium pour discuter des défis liés au diagnostic de l'amyloïdose et des récents progrès dans la gestion de cette maladie du point de vue du néphrologue, du cardiologue et de l'hémato-oncologue. Méthodologie et sources de l'information: Au moyen de présentations structurées, le groupe a discuté d'une série de cas mettant en évidence les diverses présentations cliniques d'amyloïdoses affectant les reins et le cœur. Les opinions d'experts, les résultats des essais cliniques et les résumés des publications ont été utilisés pour illustrer les facteurs liés au patient et au traitement à considérer dans le diagnostic et la prise en charge des amyloïdoses. Principaux résultats: 1) Aperçu de la présentation clinique des amyloïdoses et du rôle des spécialistes dans la réalisation d'un bilan diagnostic précis et en temps opportun (2) Examen des meilleures pratiques de gestion multidisciplinaire de l'amyloïdose, y compris des variables pronostiques et des déterminants de la réponse au traitement (3) Mise à jour sur les traitements nouveaux et émergents dans la prise en charge des amyloïdoses à chaîne légère (AL) et à transthyrétine (ATTR). Limites: Ce symposium a donné lieu à une discussion multidisciplinaire de cas; les points d'apprentissage reflètent les évaluations des experts/auteurs concernés. Conclusion: L'identification et la prise en charge des amyloïdoses peuvent être facilitées par une approche multidisciplinaire et un indice de suspicion plus élevé de la part des cardiologues, des néphrologues et des hémato-oncologues. Une meilleure connaissance des présentations cliniques et des algorithmes de diagnostic pour le sous-typage de l'amyloïdose permettra d'intervenir plus rapidement et d'améliorer les résultats cliniques.

11.
J Med Case Rep ; 16(1): 248, 2022 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-35751086

RESUMEN

BACKGROUND: Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype. Multiple other organ systems can be involved with ophthalmologic, renal, hematologic, gastrointestinal, and/or genitourinary symptoms and signs. This often results in assessments by multiple specialists and significant delays before the diagnosis is recognized. With the recent advent of potentially lifesaving therapies, early diagnosis has become even more important. Our case highlights the protean aspects of this disease as well as the difficulty of making this diagnosis, especially in the absence of a clear family history. CASE PRESENTATION: We report the case of a 64-year-old man of East-Asian descent who presented with diarrhea, mild anemia, and symptoms of peripheral neuropathy. Numerous investigations and specialist evaluations did not identify a cause. Progression of neurologic symptoms and the development of new hematologic abnormalities ultimately led to consideration of hereditary transthyretin amyloidosis. The diagnosis was confirmed after re-examining previously acquired gastrointestinal biopsies and pursuing genetic testing, which confirmed a pathogenic mutation in the transthyretin gene. He was subsequently started on a novel gene-silencing therapy. On clinical follow-up 8 months after initiation of therapy, the patient described stabilization of previously progressive numbness, weakness, and weight loss with an unchanged neurologic examination and stable repeat electrophysiologic testing. CONCLUSIONS: Hereditary transthyretin amyloidosis is a challenging disease to recognize in early stages owing to its multisystem and nonspecific manifestations. Recent approval of novel therapies highlights the importance of early diagnosis before irreversible organ damage occurs.


Asunto(s)
Neuropatías Amiloides Familiares , Cardiomiopatías , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/genética , Cardiomiopatías/genética , Humanos , Masculino , Mutación , Prealbúmina/genética
12.
Can J Neurol Sci ; 49(1): 7-18, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-33631091

RESUMEN

Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome. Many patients have significant progression due to diagnostic delays as hATTR PN is not considered within the differential diagnosis. Recently, two effective novel disease-modifying therapies, inotersen and patisiran, were approved by Health Canada for the treatment of hATTR PN. Early diagnosis is crucial for the timely introduction of these disease-modifying treatments that reduce impairments, improve quality of life, and extend survival. In this guideline, we aim to improve awareness and outcomes of hATTR PN by making recommendations directed to the diagnosis, monitoring, and treatment in Canada.


Lignes directrices sur la prise en charge de l'amylose héréditaire à transthyrétine, accompagnée de polyneuropathie, au Canada.L'amylose héréditaire à transthyrétine (ATTRh) est une maladie évolutive, causée par des mutations du gène de la transthyrétine (TTR), qui entraînent un dysfonctionnement plurisystémique. L'agrégation, le mauvais repliement et la fibrillisation pathogènes de la TTR aboutissent au dépôt de protéines amyloïdes dans plusieurs organes, et affectent souvent le système nerveux périphérique et le cœur. Les troubles neurologiques fréquents comprennent une polyneuropathie sensorimotrice (PN), une neuropathie autonome, une polyneuropathie des petites fibres et le syndrome du canal carpien. Chez bon nombre de patients, la maladie a connu une évolution importante en raison de la pose tardive du diagnostic, la PN-ATTRh ne faisant pas l'objet d'un diagnostic différentiel. Santé Canada a approuvé, depuis peu, deux nouveaux médicaments modificateurs de la PN-ATTRh et efficaces contre l'affection, soit l'inotersen et le patisiran. La pose précoce du diagnostic revêt une importance cruciale dans l'instauration, en temps opportun, de ces tout nouveaux traitements qui atténuent les troubles, améliorent la qualité de vie et prolongent la survie. Les auteurs, par l'élaboration de la nouvelle ligne directrice, espèrent sensibiliser la communauté médicale à la PN-ATTRh, et améliorer les résultats cliniques qui y sont associés, en formulant des recommandations sur le diagnostic et le traitement de la maladie au Canada ainsi que sur la surveillance de son évolution.


Asunto(s)
Neuropatías Amiloides Familiares , Polineuropatías , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/genética , Canadá , Humanos , Polineuropatías/diagnóstico , Polineuropatías/etiología , Polineuropatías/terapia , Prealbúmina/genética , Calidad de Vida
14.
J Clin Med ; 10(15)2021 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-34362149

RESUMEN

Femoral shaft fractures are one of the most common injuries in trauma patients. The gold standard treatment consists of closed reduction and intramedullary nailing, providing a high fracture healing rate and allowing early mobilization. However, rotational malalignment is a well-known complication following this procedure, and excessive femoral anteversion or femoral retroversion can trigger functional complaints. In order to achieve the ideal degree of femoral rotation, a 3D planning and printing cutting guides procedure was developed to correct femoral malrotation. A patient series with malalignment after a femoral diaphyseal fracture was operated on with the customized guides and evaluated in this study. Computed tomography scans were performed to accurately determine the number of degrees of malrotation, allowing the design of specific and personalized surgical guides to correct these accurately. Once designed, they were produced by 3D printing. After surgery with the customized guides to correct femoral malrotation, all patients presented a normalized anteversion angle of the femur (average -10.3°, range from -5° to -15°), according to their contralateral limb. These data suggest that the use of customized cutting guides for femoral osteotomy is a safe and reproducible surgical technique that offers precise results when correcting femoral malrotation.

15.
Rev. cienc. salud (Bogotá) ; 19(1): 113-123, ene.-abr. 2021. tab
Artículo en Español | LILACS | ID: biblio-1289170

RESUMEN

Resumen Introducción: las caídas en el adulto mayor influyen de manera negativa en su estado funcional y el riesgo de caídas se eleva progresivamente con la edad, por lo que es importante objetivar todos los factores de riesgo de cada paciente. El objetivo fue describir la prevalencia y los factores asociados con caídas en los pacientes del servicio ambulatorio de geriatría del Hospital Universitario San Ignacio en Bogotá (Colombia). Materiales y métodos: se realizó un estudio descriptivo con pacientes valorados en la consulta externa de geriatría del Hospital Universitario San Ignacio desde enero de 2017 hasta diciembre de 2018. Resultados: se incluyeron 233 pacientes, en quienes se documentó una prevalencia de caídas del 44.5 %. En el análisis bivariado, las variables con asociación estadísticamente significativa fueron: la presencia de trastorno neurocognitivo mayor (TNCM) (OR: 2.31; IC 95 %: 1.28-4.18; p: 0.005), el miedo a caer (OR: 2.27; IC 95 %: 1.24-4.18; p: 0.008), un grado de dependencia moderado a total (OR: 1.93; IC 95 %: 1.11-3.35; p: 0.019) y un mal estado nutricional (OR: 1.18; IC 95 %: 1.099-3.18; p: 0.02). No obstante, en el análisis multivariado, las variables que mantuvieron la asociación fueron el TNCM (OR: 2.09; IC 95 %: 1.14-3.86; p: 0.001) y el miedo a caer (OR: 2.27; IC 95 %: 1.19-4.32; p: 0.001). Conclusión: las variables asociadas con caídas en nuestra población se relacionan con lo descrito en la literatura mundial; son necesarias intervenciones para corregir estos factores y evitar caídas, así como diseñar más estudios para detectar otros factores asociados.


Abstract Introduction: Falls in the elderly have a negative impact on functional status and the risk of falls increases progressively with age, so it is important to objectify all the risk factors of each patient. Our objective was to describe the prevalence and factors associated with falls in patients from the geriatric outpatient service of the San Ignacio University Hospital in Bogotá, Colombia. Materials and methods: A descriptive study was carried out with patients assessed in the geriatric outpatient clinic of the San Ignacio University Hospital from January 2017 to December 2018. Results: 233 patients were included, documenting a prevalence of falls of 44.5%. In the bivariate analysis, the variables with a statistically significant association were: the presence of major neurocognitive disorder (MNCD) (OR: 2.31; 95 %> CI: 1.284.18; p: 0.005), fear of falling (OR: 2.27; 95 %> CI: 1.24-4.18; p: 0.008), a moderate to total degree of dependence (OR: 1.93; 95 %> ci 1.11-3.35; p: 0.019) and a poor nutritional status (OR: 1.18; 95 °/o CI: 1.099-3.18; p: 0.02). However, in the multivariate analysis, the variables that maintained the association were MNCD (OR: 2.09; 95 %> CI: 1.14-3.86; p: 0.001) and fear of falling (OR: 2.27; 95 %> CI: 1.19-4.32; p: 0.001). Discussion: The variables associated with falls in our population are related to what is described in the world literature; Interventions are necessary to correct these factors and avoid falls in our population, as well as to design more studies to detect other associated factors.


Resumo Introdução: as quedas em idosos impactam negativamente o estado funcional e o risco de quedas aumentam progressivamente com a idade, por isso é importante objetivar todos os fatores de risco de cada paciente. Nosso objetivo foi descrever a prevalência e os fatores associados às quedas em pacientes do ambulatório de geriatria do Hospital Universitário San Ignacio em Bogotá, Colômbia. Materiais e métodos: foi realizado um estudo descritivo com pacientes avaliados no ambulatório de geriatria do Hospital Universitário San Ignacio no período de janeiro de 2017 a dezembro de 2018. Resultados: foram incluídos 233 pacientes, documentando uma prevalência de quedas de 44,5%. Na análise bivariada, as variáveis com associação estatisticamente significativa foram: presença de trastorno neurocognitivo maior (TNCM) (OR: 2.31; IC 95%: 1,28-4,18; p: 0,005), medo de cair (OR: 2,27; IC 95%: 1,24-4,18; p: 0,008), grau de dependência moderado a total (OR: 1,93; IC 95%: 1,11-3,35; p: 0,019) e estado nutricional ruim (OR: 1,18; IC 95%: 1,099-3,18; p: 0,02); porém, na análise multivariada, as variáveis que mantiveram a associação foram TNCM (OR: 2,09; IC 95%: 1,14-3,86; p: 0,001) e medo de cair (OR: 2,27; IC 95%: 1,19-4,32; p: 0,001). Conclusão: as variáveis associadas às quedas em nossa população estão relacionadas ao que é descrito na literatura mundial; são necessárias intervenções para corrigir esses fatores e evitar quedas em nossa população, bem como desenhar mais estudos para detectar outros fatores associados.


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Pacientes Ambulatorios , Accidentes por Caídas , Anciano
16.
Int J Mol Sci ; 22(4)2021 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-33572157

RESUMEN

Platelet-rich plasma (PRP) is a biologic therapy that promotes healing responses across multiple medical fields, including the central nervous system (CNS). The efficacy of this therapy depends on several factors such as the donor's health status and age. This work aims to prove the effect of PRP on cellular models of the CNS, considering the differences between PRP from young and elderly donors. Two different PRP pools were prepared from donors 65‒85 and 20‒25 years old. The cellular and molecular composition of both PRPs were analyzed. Subsequently, the cellular response was evaluated in CNS in vitro models, studying proliferation, neurogenesis, synaptogenesis, and inflammation. While no differences in the cellular composition of PRPs were found, the molecular composition of the Young PRP showed lower levels of inflammatory molecules such as CCL-11, as well as the presence of other factors not found in Aged PRP (GDF-11). Although both PRPs had effects in terms of reducing neural progenitor cell apoptosis, stabilizing neuronal synapses, and decreasing inflammation in the microglia, the effect of the Young PRP was more pronounced. In conclusion, the molecular composition of the PRP, conditioned by the age of the donors, affects the magnitude of the biological response.


Asunto(s)
Corteza Cerebral/inmunología , Mediadores de Inflamación/metabolismo , Microglía/inmunología , Plasma Rico en Plaquetas/inmunología , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Envejecimiento/inmunología , Animales , Apoptosis/inmunología , Línea Celular Tumoral , Proliferación Celular , Corteza Cerebral/citología , Quimiocina CCL11/metabolismo , Femenino , Humanos , Masculino , Ratones , Microglía/citología , Células-Madre Neurales/inmunología , Neurogénesis/inmunología , Neuronas/inmunología , Plasma Rico en Plaquetas/citología , Plasma Rico en Plaquetas/metabolismo , Cultivo Primario de Células , Ratas , Sinapsis/inmunología , Adulto Joven
18.
Int Orthop ; 45(2): 401-410, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-32621139

RESUMEN

PURPOSE: The biological action of platelet-rich plasma (PRP) could slow down the osteoarthritis progression, resulting in a delay of joint replacement. This work aims to evaluate the ability of PRP to postpone and even avoid knee replacement in patients with knee osteoarthritis (KOA) analyzing, on the one hand, the time of delay and on the other hand the percentage of patients without undergoing total knee arthroplasty (TKA). METHODS: A retrospective analysis and a survival analysis were conducted. KOA patients who underwent knee replacement between 2014 and 2019 and previously received PRP infiltrations were included in the retrospective analysis. Regarding survival analysis, KOA patients who received PRP treatment during 2014 and with follow-up until 2019 were included. The dates of PRP treatment and TKA, KOA severity, age of the patients, number of PRP cycles, and administration route were analyzed. RESULTS: This work included 1084 patients of which 667 met the inclusion criteria. 74.1% of the patients in the retrospective study achieved a delay in the TKA of more than 1.5 years, with a median delay of 5.3 years. The survival analysis showed that 85.7% of the patients did not undergo TKA during the five year follow-up. The severity degree, age, PRP cycles, and administration route had a statistically significant influence on the efficacy of PRP in delaying surgery. CONCLUSION: These data suggest that the application of PRP in KOA patients is a treatment that could delay TKA, although further studies are needed to understand and improve this therapy.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Osteoartritis de la Rodilla , Plasma Rico en Plaquetas , Artroplastia de Reemplazo de Rodilla/efectos adversos , Humanos , Inyecciones Intraarticulares , Osteoartritis de la Rodilla/cirugía , Estudios Retrospectivos , Análisis de Supervivencia , Resultado del Tratamiento
19.
Expert Rev Hematol ; 14(1): 97-108, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33275468

RESUMEN

Introduction: Platelet-rich plasma (PRP) is an autologous blood-derived product that contains platelet concentrations at least 2/3 times above the normal level and includes platelet-related growth factors. The concept of PRP began in the 1970s in the field of hematology to treat patients with thrombocytopenia. In the 1980s and 1990s, PRP began to be used in surgical procedures such as maxillofacial surgery and plastic surgery. Since then, PRP had been used in orthopedic procedures, cardiac surgery, sports injuries, plastic surgery, gynecology, urology, and more recently in medical esthetics. Areas covered: This review analyzes the mechanisms of action, current indications, clinical evidence, safety and future directions of PRP in the management of various medical conditions. The literature search methodology included using medical subject headings terms to search in PubMed. Articles used were screened and critically appraised by the coauthors of this review. Expert Opinion: Platelet-rich plasma is a therapeutic option used to treat many medical conditions. PRP could be used alone or in combination with other procedures. The effectiveness and safety of PRP has been demonstrated in many medical scenarios, however there is limited availability of large randomized clinical trials.


Asunto(s)
Plasma Rico en Plaquetas , Animales , Plaquetas/citología , Plaquetas/metabolismo , Medicina Basada en la Evidencia , Humanos , Plasma Rico en Plaquetas/metabolismo , Medicina Regenerativa , Trasplante de Células Madre
20.
Expert Rev Cardiovasc Ther ; 18(12): 905-917, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33054426

RESUMEN

INTRODUCTION: The use of cannabis and its derivatives have increased steadily over the past few decades, prompting patients and clinicians to increasingly inquire about its health effects and safety profile. However, despite promising evidence suggesting therapeutic utilization, cannabis remains a controlled substance in most countries and is largely considered to have no medical or recreational benefit; thus, a lack of observational studies and randomized control trials exist to outline positive and negative health implications. Ultimately, this leaves patients, health-care professionals, and policymakers without necessary evidence required to make informed decisions on cannabis use. AREAS COVERED: This review outlines cannabis in a clinical setting and delves into specific effects of cannabinoids on cardiovascular health and disease. It discusses positive and negative health implications associated with cannabis, mechanisms in cardiovascular disease, and reveals methods guiding cannabis use in the clinical setting. EXPERT OPINION: Advances in research are necessary to guide decisions regarding cannabinoid use. Countries that have federally legalized cannabis have a unique opportunity to study cardiovascular implications in an unbiased and comprehensive manner. Ultimately, as cannabis use will inevitably increase, researchers, clinicians, and policymakers must work together to ensure cannabis is utilized in a way that is therapeutically beneficial.


Asunto(s)
Cannabinoides/uso terapéutico , Fumar Marihuana/epidemiología , Marihuana Medicinal/uso terapéutico , Cannabis/química , Humanos
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