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Introduction: Patients with end-stage renal disease (ESRD) frequently change renal replacement (RRT) therapy modality due to medical or social reasons. We aimed to evaluate the outcomes of patients under peritoneal dialysis (PD) according to the preceding RRT modality. Methods: We conducted a retrospective observational single-center study in prevalent PD patients from January 1, 2010, to December 31, 2017, who were followed for 60 months or until they dropped out of PD. Patients were divided into three groups according to the preceding RRT: prior hemodialysis (HD), failed kidney transplant (KT), and PD-first. Results: Among 152 patients, 115 were PD-first, 22 transitioned from HD, and 15 from a failing KT. There was a tendency for ultrafiltration failure to occur more in patients transitioning from HD (27.3% vs. 9.6% vs. 6.7%, p = 0.07). Residual renal function was better preserved in the group with no prior RRT (p < 0.001). A tendency towards a higher annual rate of peritonitis was observed in the prior KT group (0.70 peritonitis/year per patient vs. 0.10 vs. 0.21, p = 0.065). Thirteen patients (8.6%) had a major cardiovascular event, 5 of those had been transferred from a failing KT (p = 0.004). There were no differences between PD-first, prior KT, and prior HD in terms of death and technique survival (p = 0.195 and p = 0.917, respectively) and PD efficacy was adequate in all groups. Conclusions: PD is a suitable option for ESRD patients regardless of the previous RRT and should be offered to patients according to their clinical and social status and preferences.
Introdução: Pacientes com doença renal em estágio terminal (DRET) frequentemente mudam de modalidade de terapia renal substitutiva (TRS) por razões médicas ou sociais. Nosso objetivo foi avaliar desfechos de pacientes em diálise peritoneal (DP) segundo a modalidade anterior de TRS. Métodos: Realizamos estudo retrospectivo observacional unicêntrico, em pacientes prevalentes em DP, de 1º de janeiro de 2010 a 31 de dezembro de 2017, acompanhados por 60 meses ou até saírem de DP. Pacientes foram divididos em três grupos de acordo com a TRS anterior: hemodiálise prévia (HD), transplante renal malsucedido (TR) e DP como primeira opção (PD-first). Resultados: Entre 152 pacientes, 115 eram PD-first, 22 transitaram da HD e 15 de TR malsucedido. Houve tendência à maior ocorrência de falência de ultrafiltração em pacientes em transição da HD (27,3% vs. 9,6% vs. 6,7%; p = 0,07). A função renal residual foi melhor preservada no grupo sem TRS prévia (p < 0,001). Observou-se tendência à maior taxa anual de peritonite no grupo TR prévio (0,70 peritonite/ano por paciente vs. 0,10 vs. 0,21; p = 0,065). Treze pacientes (8,6%) tiveram um evento cardiovascular maior, cinco dos quais haviam sido transferidos de um TR malsucedido (p = 0,004). Não houve diferenças entre PD-first, TR prévio e HD prévia em termos de óbito e sobrevida da técnica (p = 0,195 e p = 0,917, respectivamente) e a eficácia da DP foi adequada em todos os grupos. Conclusões: A DP é uma opção adequada para pacientes com DRET, independentemente da TRS anterior, e deve ser oferecida aos pacientes de acordo com seu status clínico e social e suas preferências.
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Background: Pompe disease (PD) is a rare autosomal recessive genetic disorder (1 in 14,000) which affects the synthesis of acid alpha-glucosidase (AGA), leading to intralysosomal glycogen accumulation in muscle tissue. The clinical presentation is heterogeneous, with variable degrees of involvement and progression, classifiable based on the age of onset into infantile (classic or non-classic) and late-onset forms (juvenile or adult). The diagnostic test of choice is the enzymatic analysis of AGA, and the only pharmacological treatment is enzyme replacement therapy (ERT). This document aims to report a clinical case of late-onset PD. Clinical case: 14-year-old male who started at the age of 5 with postural alterations, gait changes, and decreased physical performance compared to his peers. A diagnostic evaluation was initiated in 2022 due to worsening neuromuscular symptoms, accompanied by dyspnea, tachycardia, and chest pain. A suspicion of a lysosomal storage myopathy was established, and through enzymatic determination of AGA the diagnosis of PD was confirmed. The study of the GAA gene revealed the association of 2 previously unreported genomic variants. ERT was initiated, resulting in clinical improvement. Conclusions: The age of symptom onset, severity of clinical presentation, and prognosis of the disease depend on the specific mutations involved. In this case, the identified genetic alterations are associated with different phenotypes. However, based on the clinical presentation, it is categorized as juvenile PD with an indeterminate prognosis.
Introducción: la enfermedad de Pompe (EP) es un padecimiento genético autosómico recesivo poco frecuente (1:14,000) que afecta la síntesis de alfa-glucosidasa ácida (AGA) y condiciona un depósito de glucógeno intralisosomal en tejido muscular. La presentación clínica es heterogénea, con grados variables de afectación y progresión, clasificable según la edad de aparición en infantil (clásica y no clásica) y de inicio tardío (juvenil o de adultez). La prueba diagnóstica de elección es el análisis enzimático de AGA y el único tratamiento farmacológico es la terapia de reemplazo enzimático (TRE). Este documento tiene como objetivo reportar un caso clínico de EP de inicio tardío. Caso clínico: paciente de sexo masculino de 14 años que comenzó a los 5 años con alteraciones de la postura, marcha y desempeño físico. Se inició protocolo de estudio ante agravamiento de los síntomas neuromusculares, a los que se agregaron disnea, taquicardia y dolor torácico. Se sospechó de una miopatía metabólica de depósito lisosomal y mediante determinación enzimática de AGA se confirmó el diagnóstico de EP. El estudio molecular del gen GAA reportó una asociación de 2 variantes genómicas no descritas previamente. Se empleó la TRE con mejoría clínica. Conclusiones: la edad de inicio del cuadro clínico, severidad y pronóstico dependen de las mutaciones presentadas. En este caso, las alteraciones genéticas encontradas están relacionadas con diferentes fenotipos; no obstante, por clínica es categorizado como una EP juvenil con pronóstico indeterminado.
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Genótipo , Doença de Depósito de Glicogênio Tipo II , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Doença de Depósito de Glicogênio Tipo II/genética , Humanos , Masculino , Adolescente , alfa-Glucosidases/genética , México , Terapia de Reposição de EnzimasRESUMO
Most patients with schizophrenia (SCZ) do not exhibit violent behaviors and are more likely to be victims rather than perpetrators of violent acts. However, a subgroup of forensic detainees with SCZ exhibit tendencies to engage in criminal violations. Although numerous models have been proposed, ranging from substance use, serotonin transporter gene, and cognitive dysfunction, the molecular underpinnings of violence in SCZ patients remains elusive. Lithium and clozapine have established anti-aggression properties and recent studies have linked low cholesterol levels and ultraviolet (UV) radiation with human aggression, while vitamin D3 reduces violent behaviors. A recent study found that vitamin D3, omega-3 fatty acids, magnesium, and zinc lower aggression in forensic population. In this review article, we take a closer look at aryl hydrocarbon receptor (AhR) and the dysfunctional lipidome in neuronal membranes, with emphasis on cholesterol and vitamin D3 depletion, as sources of aggressive behavior. We also discuss modalities to increase the fluidity of neuronal double layer via membrane lipid replacement (MLR) and natural or synthetic compounds. This article is part of the Special Issue on "Personality Disorders".
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Antipsicóticos , Esquizofrenia , Humanos , Esquizofrenia/metabolismo , Antipsicóticos/uso terapêutico , Colesterol/metabolismo , Animais , Colecalciferol/metabolismo , Agressão/fisiologia , Agressão/efeitos dos fármacosRESUMO
Introduction: Osteochondroma is the most common benign bone tumor (20-50%). It is located predominantly in the metaphysis of the long bones, and much less frequently, the proximal femur and acetabulum. Osteochondroma can eventually lead to hip osteoarthritis and limit patients' functional activities. Determining optimal treatment can be difficult due to the high risk of avascular necrosis in surgical resections. Case Report: A 44-year-old male from Sabinas Coahuila, Mexico, a priest by profession, who presents for consultation with right inguinal pain of 18 months' duration. The patient had been treated conservatively with rest, non-steroidal anti-inflammatory drugs, and physical therapy without showing improvement in his symptoms. The anteroposterior radiograph of the pelvis and axial tomography showed an oval bone excrescence with well-defined margins in the acetabular and intra-articular region of the hip, which caused a decrease in joint space but without soft tissue infiltration. Tumor resection and total hip replacement were the treatment options. The histopathological study concluded an osteochondroma. After 25 months of post-operative follow-up, radiographic studies show no evidence of lesion recurrence. The functional improvement is 98 points on the Harris scale; the patient typically performs his daily living and work activities. Conclusion: Treating intra-articular osteochondroma of the hip can be challenging for the orthopedic surgeon. For osteochondroma resulting in secondary osteoarthrosis of the hip joint, total hip replacement should be considered an effective method to restore function and assist in returning the patient to previous activities. Thorough pre-operative planning is mandatory to prevent intra- or immediate post-operative risk.
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The aim of this study was to explore the effect of replacing protein pellets with soybean grain in high-concentrate diets with or without the addition of silage, on the intake, digestibility, and rumen and blood parameters of feedlot cattle in tropical regions. Four cannulated, crossbred steers were used, 4.5 ± 0.5 years old, with an average weight of 685.55 ± 111.78 kg. The steers were distributed in a 4 × 4 Latin square, in a 2 × 2 factorial scheme (two sources of protein: protein pellets or whole soybean grain, with or without added dietary bulk). There was no effect (P ≥ 0.109) from the interaction between the source of protein and the addition of silage to the diet on dry matter (DM) and nutrient intake, or the digestibility (P ≥ 0.625) of DM or crude protein (CP). However, both factors affected (P ≤ 0.052) the intake of DM, neutral detergent fiber (NDF), and non-fiber carbohydrates (NFC), as well as the independent digestibility (P ≤ 0.099) of fat, NFC, total carbohydrates (TC), and total cholesterol concentration. There was an effect (P ≤ 0.053) from the interaction between the source of protein and the addition of silage to the diet on the digestibility of NDF and total digestible nutrients (TDN), as well as on the glycose concentration (P = 0.003). Blood parameters (i.e. protein, albumin, creatinine, triglycerides, aspartate aminotransferase (AST), and alanine aminotransferase (ALT)) were not affected (P ≥ 0.139) by the source of protein, the addition of silage, or their interaction. Lastly, including 150 g/kg silage DM in a high-grain diet, and using soybean grain as a source of protein in substitution of protein pellet could be a suitable nutritional strategy to ensure adequate DM and nutrient intake and digestibility, with no detrimental effects on rumen and blood parameters of feedlot cattle in the tropics.
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Ração Animal , Fenômenos Fisiológicos da Nutrição Animal , Dieta , Digestão , Glycine max , Rúmen , Clima Tropical , Animais , Bovinos/sangue , Bovinos/fisiologia , Bovinos/metabolismo , Rúmen/metabolismo , Masculino , Ração Animal/análise , Digestão/fisiologia , Dieta/veterinária , Silagem/análise , Proteínas Alimentares/metabolismo , Proteínas Alimentares/administração & dosagem , Nutrientes/metabolismoRESUMO
Acute liver failure is a rare but serious syndrome, with an incidence of approximately 2,000 to 3,000 cases per year in North America. Its pathophysiology and clinical course vary, depending on the cause of the primary liver injury, and can lead to high morbidity and mortality or the need for liver transplantation, despite available therapies. This syndrome involves excessive activation of the immune system, with damage in other organs, contributing to its high mortality rate. The most accepted definition includes liver injury with hepatic encephalopathy and coagulopathy within the past 26 weeks in a patient with no previous liver disease. The main causes are paracetamol poisoning, viral hepatitis, and drug-induced liver injury, among others. Identifying the cause is crucial, given that it influences prognosis and treatment. Survival has improved with supportive measures, intensive therapy, complication prevention, and the use of medications, such as N-acetylcysteine. Liver transplantation is a curative option for nonresponders to medical treatment, but adequate evaluation of transplantation timing is vital for improving results. Factors such as patient age, underlying cause, and severity of organ failure influence the post-transplant outcomes and survival.
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Falência Hepática Aguda , Humanos , Falência Hepática Aguda/terapia , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/diagnóstico , Prognóstico , Transplante de FígadoRESUMO
OBJECTIVE: This study aimed to compare hemodynamic performances and clinical outcomes of patients with small aortic annulus (SAA) who underwent aortic valve replacement by means of sutureless aortic valve replacement (SUAVR) or transcatheter aortic valve implantation (TAVI). METHODS: From 2015 to 2020, 622 consecutive patients with SAA underwent either SUAVR or TAVI. Through a 1:1 propensity score matching analysis, two homogeneous groups of 146 patients were formed. Primary endpoint: all cause-death at 36 months. Secondary endpoints: incidence of moderate to severe patient-prosthesis mismatch (PPM) and incidence of major adverse cardiovascular and cerebrovascular events (MACCEs). RESULTS: All-cause death at three years was higher in the TAVI group (SUAVR 12.2% vs. TAVI 21.0%, P=0.058). Perioperatively, comparable hemodynamic performances were recorded in terms of indexed effective orifice area (SUAVR 1.12 ± 0.23 cm2/m2 vs. TAVI 1.17 ± 0.28 cm2/m2, P=0.265), mean transvalvular gradients (SUAVR 12.9 ± 5.3 mmHg vs. TAVI 12.2 ± 6.2 mmHg, P=0.332), and moderate-to-severe PPM (SUAVR 4.1% vs. TAVI 8.9%, P=0.096). TAVI group showed a higher cumulative incidence of MACCEs at 36 months (SUAVR 18.1% vs. TAVI 32.6%, P<0.001). Pacemaker implantation (PMI) and perivalvular leak ≥ 2 were significantly higher in TAVI group and identified as independent predictors of mortality (PMI: hazard ratio [HR] 3.05, 95% confidence interval [CI] 1.34-6.94, P=0.008; PPM: HR 2.72, 95% CI 1.25-5.94, P=0.012). CONCLUSION: In patients with SAA, SUAVR and TAVI showed comparable hemodynamic performances. Moreover, all-cause death and incidence of MACCEs at follow-up were significantly higher in TAVI group.
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Estenose da Valva Aórtica , Valva Aórtica , Hemodinâmica , Pontuação de Propensão , Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/métodos , Substituição da Valva Aórtica Transcateter/mortalidade , Substituição da Valva Aórtica Transcateter/efeitos adversos , Masculino , Feminino , Hemodinâmica/fisiologia , Idoso , Idoso de 80 Anos ou mais , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/mortalidade , Resultado do Tratamento , Procedimentos Cirúrgicos sem Sutura/métodos , Próteses Valvulares Cardíacas , Estudos Retrospectivos , Complicações Pós-Operatórias , Implante de Prótese de Valva Cardíaca/métodos , Fatores de RiscoRESUMO
BACKGROUND: Prevalence of bioprosthetic valve degeneration (BVD) is rising as the use of bioprosthetic aortic valves increases. Detecting early signs of BVD remains a challenge, with conventional imaging methods often failing to identify early deterioration stages. 18F-fuoride positron emission tomography (PET-CT) is an emerging technique that offers promising prospects to detect subclinical BVD. This study aimed to compare early PET parameters of fluoride uptake with echocardiographic hemodynamic parameters and compare outcomes according to anticoagulation in patients who received bioprosthetic valves. METHODS: This is a sub-study of the ANTIPRO clinical trial, which involved patients undergoing surgical aortic valve replacement (SAVR) with a porcine bioprosthesis and randomized them into anticoagulated and non-anticoagulated groups. Hemodynamic changes were assessed by transthoracic echocardiography (TTE), while 18F-fluoride PET-CT quantified fluoride uptake and divided the patients in two groups: high-uptake and low-uptake. Mean and maximum gradients by TTE at three years were compared between the two uptake groups. Fluoride uptake was also compared between the anticoagulated and control groups. RESULTS: We found no significant differences in transprosthetic gradients between high-uptake(21.4 ± 8.6 mmHg) and low-uptake(17.3 ± 11.2 mmHg.p = 0.244) PET-defined groups in this specific timeframe. Notably, anticoagulated patients exhibited significantly risk of higher fluoride uptake(OR = 4.34;95%CI:1.04-18.21.p = 0.045). CONCLUSIONS: No association was found between fluoride uptake and hemodynamic evaluation. Anticoagulation was associated with higher fluoride uptake. These findings highlight the emerging role of PET-CT in studying bioprosthetic aortic valves and emphasize the need for extended follow-up to evaluate the impact of anticoagulation on valve degeneration.
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Anticoagulantes , Valva Aórtica , Bioprótese , Próteses Valvulares Cardíacas , Varfarina , Bioprótese/efeitos adversos , Humanos , Feminino , Masculino , Próteses Valvulares Cardíacas/efeitos adversos , Anticoagulantes/administração & dosagem , Idoso , Varfarina/administração & dosagem , Varfarina/farmacocinética , Varfarina/uso terapêutico , Valva Aórtica/cirurgia , Valva Aórtica/diagnóstico por imagem , Radioisótopos de Flúor , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Pessoa de Meia-Idade , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/diagnóstico por imagem , Seguimentos , Falha de Prótese , Tomografia por Emissão de Pósitrons/métodosRESUMO
BACKGROUND: Quality of life (QoL) is a measure to evaluate kidney transplant (KT) results. AIM: To describe the QoL profile in a larger sample of Brazilian patients who underwent KT according to age, sex, and access to KT. METHODS: We conducted a secondary data analysis of the ADHERE BRAZIL multicenter cross-sectional study including 1105 patients from 20 centers, considering KT access region and transplant activity. QoL was assessed by the WHOQOL-BREF. Data was compared using Generalized Estimating Equations. RESULTS: Overall, 58.5 % of the patients were men, mean age of 47.6 ± 12.6 years. The general QoL score was 81 ± 15.1, 58.6 ± 11.6 for physical, 65.5 ± 11.4 for psychological, 68.3 ± 17.1 for social relationships, and 64.2 ± 13.3 for environmental domain. Higher QoL scores were observed in men compared to women in three WHOQOL-BREF domains: psychological (OR:2.62; CI, 1.29 ̶ 3.95, p < 0.0001), social relationships (OR:3.21; CI, 1.2 ̶ 5.23, p = 0.002) and environmental (OR:3.79; CI:2.23 ̶ 5.35, p < 0.0001). Younger patients (18-44 years) had higher scores in the psychological (OR:-2.69; CI, -4.13 ̶ -1.25; p < 0.001; OR:-3.52; CI, -5.39 ̶ -1.66; p < 0.001) and social (OR:-3.46; CI, -5.64 ̶ -1.27; p = 0.002; OR:-7.17; CI, -10 ̶ -4.35; p < 0.0001) domains than older ones (45-59 and > 60 years, respectively). Patients from higher KT access region had higher scores in environmental domain (OR:3.53; CI, 0.28 ̶ 6.78; p = 0.033). CONCLUSIONS: Featuring the results of KT under patient view, the physical and social relationships domains were the most and least affected, respectively. Lower QoL subgroups (females and age > 45 years) should be targeted in future multi-professional interventions.
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Transplante de Rim , Qualidade de Vida , Humanos , Qualidade de Vida/psicologia , Masculino , Feminino , Transplante de Rim/psicologia , Estudos Transversais , Brasil , Pessoa de Meia-Idade , Adulto , Inquéritos e Questionários , Idoso , Adulto JovemRESUMO
OBJECTIVES: To investigate the incidence of intravalvular leak after aortic valve replacement with the Inspiris Resilia valve. DESIGN: This study was a retrospective chart review. SETTING: This study used data from a single tertiary care academic center. PARTICIPANTS: A total of 81 patient charts and echo images were reviewed. INTERVENTIONS: All patients underwent an aortic valve replacement using the Inspiris Resilia valve. Pediatric patients and patients receiving an aortic valve conduit were excluded. MEASUREMENTS AND MAIN RESULTS: Transesophageal echocardiography (TEE) images were reviewed independently by 2 echocardiographers for the incidence and severity of intravalvular leak after Inspiris Resilia valve placement. Outpatient follow-up imaging was then compared to intraoperative findings. Valve size and mean gradients were documented as well. Of the 81 TEEs that were reviewed, 56 (69.1%) were found to have a strut leak at the time of implantation. Among these 56 cases, 30 were classified as trace regurgitation, 21 as mild regurgitation, and 5 as moderate regurgitation. Only 1 case necessitated a return to cardiopulmonary bypass owing to persistent intravalvular leak. Follow-up transthoracic echocardiography reports were available for 50 of the patients with no persistent leaks. CONCLUSIONS: This pattern of intravalvular leak is unique to the Inspiris Resilia valve and is commonly found in the intraoperative period. While many hypotheses exist for the origin of this leak, the exact mechanism is unclear. Given the high frequency of this postprocedure finding, it is essential that intraoperative echocardiographers be able to distinguish this clinically insignificant leak based on its origin, severity, and direction and to provide appropriate recommendations to our surgical colleagues.
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Ecocardiografia Transesofagiana , Próteses Valvulares Cardíacas , Humanos , Estudos Retrospectivos , Masculino , Feminino , Ecocardiografia Transesofagiana/métodos , Próteses Valvulares Cardíacas/efeitos adversos , Implante de Prótese de Valva Cardíaca/efeitos adversos , Implante de Prótese de Valva Cardíaca/métodos , Valva Aórtica/cirurgia , Valva Aórtica/diagnóstico por imagem , Idoso , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia , Insuficiência da Valva Aórtica/cirurgia , Insuficiência da Valva Aórtica/etiologia , Insuficiência da Valva Aórtica/diagnóstico por imagem , Seguimentos , Pessoa de Meia-Idade , Falha de Prótese , Idoso de 80 Anos ou maisRESUMO
PURPOSE: The objective of this study was to describe a planning method for medial unicompartmental knee arthroplasty (UKA) implantation using preoperative stress radiographs to measure the thickness of tibial and femoral bone resections and to validate this method with data from an image-based robotic surgery system. Having such method for preoperative planning would be of interest for surgeons performing UKA in order to anticipate optimal bone resection on both tibia and femoral sides. METHODS: A new planning method for medial UKA based on valgus stress knee radiographs validated it with an image-based robotic surgery system (Restoris MCK, MAKO®, Stryker Corporation) was proposed. This retrospective study involved radiographic measurements of 76 patients who underwent image-based robotic medial UKA between April 2022 and February 2023. Preoperative anteroposterior stress radiographs of the knee were used to simulate UKA implantation. The UKA technique was based on Cartier's angle and aimed at restoring the joint line. The total dimension measured was 14 mm (8 mm for minimal tibial component and polyethylene insert + 4 mm for femoral component + 2 mm for safety laxity). Bone resections were measured in the preoperative valgus stress radiographs and then against the intraoperative bone resection data provided by the robotic system. Inter- and intra-observer reliability was assessed using 25 measurements. RESULTS: The mean planned tibial resection measured in the radiographs was 4.3 ± 0.4 [2.9-5.8], while the mean robotic resection was 4.2 ± 0.5 [2.7-5.8] (mean difference = 0.15 mm, 95% confidence interval [CI] [-0.27 to 0.57]). There was a strong correlation between these two values (Pearson's rank R = 0.79, p < 0.001). Intra- and inter-observer reliability were also very strong (Pearson's rank R = 0.91, p < 0.001, and Pearson's rank R = 0.82, p < 0.001, respectively). The mean planned femoral bone resection measured in the radiographs was 2.7 ± 0.7 mm [1-4.5], while the mean robotic resection was 2.5 ± 0.9 [1-5] (mean difference = 0.21 mm, 95% CI [-0.66 to 1.08]). There was a strong correlation between these two values (Pearson's rank R = 0.82, p < 0.001). Intra- and inter-observer reliability were also strong (Pearson's rank R = 0.88, p < 0.001, and Pearson's rank R = 0.84, p < 0.001, respectively). CONCLUSION: This study describes and validates with robotic information a simple and reproducible preoperative planning method to determine femoral and tibial bone resection for medial UKA implantation using antero-posterior valgus stress knee radiographs, leaving a medial safety laxity of 2 mm. It represents a very valuable contribution to the understanding of UKA principles, which can serve to extend its indications and increase reproducibility of the surgical technique. LEVEL OF EVIDENCE: III. Retrospective cohort study.
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INTRODUCTION: Diabetes mellitus (DM) in patients undergoing cardiac transcatheter or surgical interventions usually is correlated with poor outcomes. Transcatheter aortic valve implantation (TAVI) has been developed as a therapy choice for inoperable, high-, or intermediate-risk surgical patients with severe aortic stenosis (AS). OBJECTIVE: To evaluate the impact of DM and hemoglobin A1c (HbA1c) on outcomes and survival after TAVI. METHODS: Five hundred and fifty-two symptomatic severe AS patients who underwent TAVI, of whom 164 (29.7%) had DM, were included in this retrospective study. Follow-up was performed after 30 days, six months, and annually. RESULTS: The device success and risks of procedural-related complications were similar between patients with and without DM, except for acute kidney injury, which was more frequent in the DM group (2.4% vs. 0%, P=0.021). In-hospital and first-year mortality were similar between the groups (4.9% vs. 3.6%, P=0.490 and 15.0% vs. 11.2%, P=0.282, respectively). There was a statistical difference between HbA1c ≥ 6.5 and HbA1c ≤ 6.49 groups in total mortality (34.4% vs. 15.8%, P<0.001, respectively). The only independent predictors were Society of Thoracic Surgeons score (hazard ratio [HR] 1.28, 95% confidence interval [CI] 1.09-1.51; P=0.003) and HbA1c level ≥ 6.5 (HR 10.78, 95% CI 2.58-21.50; P=0.003) in multivariable logistic regression analysis. CONCLUSION: In this study, we conclude that DM was not correlated with an increased mortality risk or complication rates after TAVI. Also, it was shown that mortality was higher in patients with HbA1c ≥ 6.5, and it was an independent predictor for long-term mortality.
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Estenose da Valva Aórtica , Diabetes Mellitus , Hemoglobinas Glicadas , Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/mortalidade , Substituição da Valva Aórtica Transcateter/efeitos adversos , Masculino , Feminino , Estudos Retrospectivos , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/mortalidade , Idoso de 80 Anos ou mais , Idoso , Resultado do Tratamento , Diabetes Mellitus/mortalidade , Hemoglobinas Glicadas/análise , Fatores de Risco , Complicações Pós-Operatórias/mortalidade , Fatores de Tempo , Índice de Gravidade de Doença , Mortalidade HospitalarRESUMO
OBJECTIVES: The aims of the present study were to compare the long-term outcomes for ascending aortic dilatation and adverse aortic events after isolated aortic valve replacement between patients with bicuspid aortic valve (BAV) and tricuspid aortic valve ( TAV). METHODS: This retrospective study included 310 patients who had undergone isolated aortic valve replacement with an ascending aorta diameter ≤ 45 mm between January 2010 and September 2021. The patients were divided into BAV group (n=90) and TAV group (n=220). The differences in the dilation rate of the ascending aorta and long-term outcomes were analyzed. RESULTS: Overall survival was 89 ± 4% in the BAV group vs. 75 ± 6% in the TAV group at 10 years postoperatively (P=0.007), yet this difference disappeared after adjusting exclusively for age (P=0.343). The mean annual growth rate of the ascending aorta was similar between the two groups during follow-up (0.5 ± 0.6 mm/year vs. 0.4 ± 0.5 mm/year; P=0.498). Ten-year freedom from adverse aortic events was 98.1% in the BAV group vs. 95.0% in the TAV group (P=0.636). Multivariable analysis revealed preoperative ascending aorta diameter to be a significant predictor of adverse aortic events (hazard ratio: 1.76; 95% confidence interval: 1.33 to 2.38; P<0.001). CONCLUSION: Our study revealed that the long-term survival and the risks of adverse aortic events between BAV and TAV patients were similar after isolated aortic valve replacement. BAV was not a risk factor of adverse aortic events.
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Aorta , Valva Aórtica , Doença da Válvula Aórtica Bicúspide , Doenças das Valvas Cardíacas , Implante de Prótese de Valva Cardíaca , Humanos , Masculino , Feminino , Estudos Retrospectivos , Doença da Válvula Aórtica Bicúspide/cirurgia , Doença da Válvula Aórtica Bicúspide/complicações , Pessoa de Meia-Idade , Valva Aórtica/cirurgia , Valva Aórtica/anormalidades , Idoso , Implante de Prótese de Valva Cardíaca/mortalidade , Aorta/cirurgia , Doenças das Valvas Cardíacas/cirurgia , Doenças das Valvas Cardíacas/complicações , Doenças das Valvas Cardíacas/mortalidade , Valva Tricúspide/cirurgia , Progressão da Doença , Fatores de Risco , Resultado do Tratamento , Complicações Pós-OperatóriasRESUMO
Introduction: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypothalamic-pituitary deficiencies including hypogonadism. In girls with PWS, hypogonadism can present early in childhood, leading to genital hypoplasia, delayed puberty, incomplete pubertal development, and infertility. In contrast, girls can present with premature activation of the adrenal axis leading to early pubarche and advanced bone age. We aim to evaluate the progression of puberty and adrenarche signals in girls with PWS. Methodology: A longitudinal retrospective cohort study included girls with PWS followed at a Pediatric Endocrinology Outpatient Clinic in a Tertiary University Hospital in Sao Paulo, Brazil from 2002 to 2022. Data collected via chart review included clinical information on birth history, breast and pubic hair Tanner stages, presence of genital hypoplasia, age at menarche, regularity of menstrual cycles, body mass index (BMI) z-score, final height, age of initiation of estrogen replacement and growth hormone replacement, as well as results for PWS genetic subtype; biochemical investigation (LH, FSH, estradiol, DHEA-S); radiographic bone age and pelvic ultrasound. Results: A total of 69 girls were included in the study and the mean age of puberty onset was 10.2 years in those who started puberty after the age of 8 years. Breast Tanner stage IV was reached by 29.1% girls at a mean age of 14.9 years. Spontaneous menarche was present in 13.8% and only one patient had regular menstrual cycles. Early adrenarche was seen in 40.4% of cases. Conclusion: Our study demonstrated in a large sample that girls with PWS often present with delayed onset of puberty despite frequent premature adrenarche. Based on our results, we suggest an estrogen replacement protocol for girls with PWS to be started at the chronological age or bone age of 12-13 years, taking into consideration the uterus size. Further prospective studies are needed.
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Síndrome de Prader-Willi , Puberdade , Humanos , Feminino , Síndrome de Prader-Willi/fisiopatologia , Criança , Estudos Retrospectivos , Adolescente , Puberdade/fisiologia , Estudos Longitudinais , Centros de Atenção Terciária , Menarca/fisiologia , Brasil/epidemiologia , Estudos de Coortes , Adrenarca , Puberdade Precoce/epidemiologiaRESUMO
BACKGROUND: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches. CASE PRESENTATION: Patient 1, a 10-month-old female from Bogota, Colombia, presented with generalized hypotonia, macroglossia, hyporeflexia, and mild left ventricular hypertrophy. Diagnostic tests confirmed early-onset Pompe disease, and enzyme replacement therapy was started at 12 months. Due to a lack of improvement and high anti-recombinant human acid alpha-glucosidase IgG antibody titers (1:1800), methotrexate was started at 18 months. After 8 months of combined therapy, antibody titers were negative and significant improvement in motor function was observed using the Gross Motor Function Measure 88. Patient 2, a 7-year-old female from Bogota, Colombia, was diagnosed with early-onset Pompe disease at 12 months and initiated enzyme replacement therapy. At 5 years of age, she experienced frequent falls and grip strength alterations. Functional tests revealed motor development delay, generalized hypotonia, and positive anti-recombinant human acid alpha-glucosidase IgG antibody titers (6400). Methotrexate was initiated, leading to a reduction in falls and antibody titers (3200) after 6 months, with no adverse events or complications. Motor function improvement was assessed using the Motor Function Measurement 32. CONCLUSIONS: The presented cases highlight the importance of monitoring patients for anti-recombinant human acid alpha-glucosidase antibody development during enzyme replacement therapy and the potential benefit of methotrexate as an immunomodulatory agent in early-onset Pompe disease. Early diagnosis and timely initiation of enzyme replacement therapy, combined with prophylactic immune tolerance induction, may improve clinical outcomes and reduce the development of anti-recombinant human acid alpha-glucosidase antibodies. The cases also highlight the importance of objective motor function assessment tools, such as Gross Motor Function Measure 88 and Motor Function Measurement 32, in assessing treatment response. Further research is needed to optimize treatment regimens, monitor long-term effects, and address the current limitations of enzyme replacement therapy in Pompe disease.
Assuntos
Terapia de Reposição de Enzimas , Doença de Depósito de Glicogênio Tipo II , Metotrexato , alfa-Glucosidases , Humanos , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , Feminino , Lactente , alfa-Glucosidases/uso terapêutico , Metotrexato/uso terapêutico , Criança , Resultado do Tratamento , Imunoterapia/métodos , Imunoglobulina G , Proteínas Recombinantes/uso terapêuticoRESUMO
Three-dimensional (3D) printing technology is a reality in medicine. In Orthopedics and Traumatology, 3D printing guides a precise and tailored surgical treatment. Understanding and disseminating its applicability, use, and outcomes can foster academicism and improve patient care. This is a report of a rare case of a female young adult patient with osteonecrosis of the humeral head due to avascular necrosis developed in early childhood. The treatment was tailored and optimized with 3D printing, which helped determine the steps for partial humeral arthroplasty.
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Although the relationship between hip arthroplasty and the development of sarcoma was first described in the literature about forty years ago, this association is extremely rare. In the present case report, we describe the association between orthopedic implants and soft tissue sarcoma in a 79-year-old man who underwent primary total hip arthroplasty (THA) for coxarthrosis 24 years ago. In the present case report, we describe the clinical evolution and the radiographic and histopathological findings of the lesion. In the intraoperative period of the second revision surgery, loosening of the acetabular and femoral components in association with extensive areas of necrosis and metallosis was evidenced. We performed debridement of the hip and right thigh region and removed the implants. Due to the extent of the lesion and to necrosis, it was not possible to perform a new joint reconstruction. The histopathological diagnosis of high-grade undifferentiated pleomorphic sarcoma associated with extensive areas of metallosis was confirmed in tissue adjacent to the implant. The patient developed pulmonary metastases and died 6 months after the diagnosis. Despite the rarity of this association, sarcomas should be considered in the differential diagnosis of aseptic loosening, especially in the presence of metallosis in the peri-implant tissue. To our knowledge, the 24-year latency period between primary THA and the establishment of a sarcoma diagnosis is one of the longest reported to date.
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The following case report aims to demonstrate a total hip arthroplasty revision surgery (THARS) using a custom-made trabecular metal acetabular component for correction of a severe acetabular defect. Currently, in the literature, there are few complete descriptions of surgical planning and procedures involving customized prostheses. This is due to the inherent technical difficulty of the surgical procedure and the high costs related to the planning and materials.
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INTRODUCTION: Fabry disease (FD) is an X-linked lysosomal storage disorder affecting glycosphingolipid metabolism. Most FD patients have cardiac involvement, mainly manifested as left ventricular hypertrophy (LVH), leading to early death due to complications (arrhythmias, valvular disease, vascular involvement). Early initiation of enzyme replacement therapy (ERT) before fibrosis development has been associated with better cardiac outcomes in terms of left ventricular mass index (LVMI) and functional parameters. METHODS: A retrospective observational study was conducted in patients with FD treated with agalsidase alfa for at least 2 years. The primary objectives were: [a] to assess the annual rate of change in LVMI; [b] to define the overall incidence of stability, regression or progression of LVMI. RESULTS: Forty-nine patients were included in the final analysis, with a median follow-up of 7 years. The overall change in LVMI was 0.38 g/m2.73/year, without significant influence of baseline LVH, gender, age at ERT initiation, LV ejection fraction, body mass index, renal disease, and classical cardiovascular risk factors. Long-term ERT with agalsidase alfa was associated with stabilization of LVMI in 98% of patients with FD and was independent of the same covariables. CONCLUSION: Our results are in line with previous literature of comparable FD populations and probably represent the first study of its kind in Argentina. We here highlight the importance of cardiac morphometric stability as a positive outcome of ERT.
Introducción: La enfermedad de Fabry (EF) es una enfermedad de almacenamiento lisosomal ligada al cromosoma X que afecta el metabolismo de glicoesfingolípidos. La mayoría de pacientes EF tienen afectación cardíaca, manifestada principalmente como hipertrofia ventricular izquierda (HVI), que conduce a muerte prematura secundaria a complicaciones (arritmias, valvulopatías, afectación vascular). El tratamiento de reemplazo enzimático (TRE) precoz, iniciado antes del desarrollo de la fibrosis, se relaciona con mejores resultados cardíacos en términos del índice de masa ventricular izquierda (IMVI) y parámetros funcionales. Métodos: Se realizó un estudio retrospectivo observacional en que se incluyeron pacientes con EF tratados con agalsidasa alfa por al menos 2 años. Los objetivos primarios fueron: [a] evaluar el cambio anual del IMVI; [b] definir la incidencia global de estabilidad, regresión o progresión del IMVI. Resultados: Se incluyeron 49 pacientes, con seguimiento (mediana) de 7 años. El cambio global en el IMVI fue 0.38 g/m2.73/año, sin influencia significativa de HVI basal, sexo, edad de inicio de TRE, fracción de eyección del VI, índice de masa corporal, insuficiencia renal y factores de riesgo cardiovascular clásicos. La TRE a largo plazo con agalsidasa alfa se relacionó con la estabilización del IMVI en el 98% de los pacientes con EF, independientemente de las mismas covariables. Conclusión: Nuestros resultados están en línea con la bibliografía previa de poblaciones comparables y, probablemente, representan el primer estudio de este tipo en Argentina. Se destaca la importancia de la estabilidad morfométrica cardíaca como resultado positivo de la TRE.