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1.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38909956

RESUMO

Low socioeconomic status (SES) is associated with a higher risk of fragility fractures, as well as higher mortality in the first year post-fracture. The SES variables that have the greatest impact are educational level, income level, and cohabitation status. Significant disparities exist among racial and ethnic minorities in access to osteoporosis screening and treatment.In Spain, a higher risk of fractures has been described in people with a low income level, residence in rural areas during childhood and low educational level. The Civil War cohort effect is a significant risk factor for hip fracture. There is significant geographic variability in hip fracture care, although the possible impact of socioeconomic factors has not been analyzed. It would be desirable to act on socioeconomic inequalities to improve the prevention and treatment of osteoporotic fractures.

2.
J Surg Res ; 299: 313-321, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38788468

RESUMO

INTRODUCTION: Health-related quality of life (HRQL) assessment plays a crucial role in the follow-up care of lung transplanted (LTx) patients. Previous reports have indicated that the HRQL achieved by these patients is often poorer compared to that of healthy individuals. However, the factors contributing to this lower HRQL remain unclear. This prospective study aimed to assess the effectiveness of using both a generic and a disease-specific HRQL instrument in evaluating the outcomes of patients who have undergone LTx. METHODS: A total of 111 LTx patients were enrolled in the study, with 88 survivors completing the 5-year follow-up and 23 nonsurvivors identified within the first 3 y. Among the participants, 84 underwent double LTx, while 27 received a single LTx. Patients were interviewed before LTx, at 6 mo post-transplantation, and annually thereafter. Two validated instruments were utilized: the Euro quality of life five dimensions, a generic measure, and the St. George's Respiratory Questionnaire (SGRQ), a disease-specific questionnaire. RESULTS: The study showed significant improvements in Euro Quality of Life five Dimensions scores from 6 mo after LTx. Specifically, the percentage of patients without Mobility problems increased from 23% before LTx to 71% at 5 y (P = <0.001), while the ability to self-care improved from 48% to 100% (P = <0.001). The ability to carry out usual activities improved from 13% to 86% (P = <0.001), and the proportion of patients without anxiety and depression increased from 50% to 86% (P > 0.004). However, there was no significant improvement observed in Pain, with only a slight reduction from 57% to 42.8% (P = 0.22). The SGRQ also showed improvements in all dimensions (symptoms, impact, activities) (P < 0.001). However, by the fifth year, the HRQL scores remained below normal reference values. Chronic graft dysfunction was associated with a decline in SGRQ scores. Bilateral LTx patients exhibited better SGRQ scores compared to unilateral LTx patients from the first year post-transplantation. Notably, there were no differences in scores between nonsurvivors and survivors. CONCLUSIONS: The study highlights the long-term improvement in HRQL among LTx patients, with greater improvements observed in physical dimensions compared to psychological dimensions. Bilateral LTx was associated with better SGRQ scores than unilateral LTx, and chronic graft dysfunction primarily affected SGRQ scores. These findings underscore the importance of utilizing both generic and specific HRQL instruments in assessing LTx outcomes.


Assuntos
Transplante de Pulmão , Qualidade de Vida , Humanos , Transplante de Pulmão/psicologia , Masculino , Feminino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto , Seguimentos , Inquéritos e Questionários , Idoso
3.
Diagnostics (Basel) ; 14(9)2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38732282

RESUMO

INTRODUCTION: The study of BMD provides only partial information on bone health in patients undergoing TSH suppression therapy due to differentiated thyroid cancer (DTC). The trabecular bone score (TBS), a new parameter assessing bone microarchitecture, is proposed for studying bone in this context. This study aimed to analyze their long-term use in patients with DTC. METHODS: Bone mineral density (BMD) was measured by dual X-ray densitometry (DXA) and TBS was assessed with iNsigth software (version 2.0, MediImaps, France) in 145 postmenopausal patients with DTC. Vertebral fractures (VFs) were identified using a semi-quantitative X-ray method. RESULTS: The BMD at the end of this study did not differ from the initial measurement. However, the TBS decreased from 1.35 ± 0.1 to 1.27 ± 0.1 (p = 0.002). Increased levels of PTH, osteocalcin, and bone alkaline phosphatase (BAP) were observed, suggesting enhanced bone remodeling. There was an increase in the prevalence of osteoporosis and osteopenia (40.6% and 16.5% to 46.6% and 18.6%, respectively). The proportion of patients with partially degraded and totally degraded TBS increased from 31% and 15.1% to 48.9% and 24.8% by the end of this study. Among the 30 patients with VFs, there were no significant differences in age, body mass index (BMI), calcium intake, alcohol consumption, smoking, radioiodine, therapy, or thyroid parameters compared to those without VFs. The odds ratio for VFs increased with osteopenia (OR 2.63). Combining TBS with BMD did not improve discrimination. CONCLUSIONS: The TBS decreased while the BMD remained unchanged. The percentage of patients with osteoporosis and osteopenia, whether partially degraded or totally degraded, increased by the end of this study. The predominant discordance was found in partially degraded microarchitectures, with a higher proportion of osteopenic patients compared to those with normal or osteoporotic bone density. The AUC of the combination of TBS and BMD did not enhance discrimination. TBS, radioactive iodine therapy, and sedentary lifestyle emerged as the main distinguishing factors for DTC patients with VFs.

4.
Geriatrics (Basel) ; 9(2)2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38525741

RESUMO

Vertebral fragility fractures (VFF) pose a challenge for appropriate care. The aim of this study was to develop consensus recommendations for the management of VFF in older people from a multidisciplinary approach. Specialists in osteoporosis belonging to different scientific societies reviewed the main clinical practice guidelines published in Spain in 2014. Thirty-five recommendations for the management of VFF were evaluated by seven experts using an anonymous survey. Consensus was defined as 80% of responses of 8 (agree) and 9 (strongly agree) on a Likert scale. Consensus was achieved in 22 recommendations (62.8%). The experts agreed on the need for anamnesis, clinical assessment, and laboratory tests, including erythrocyte sedimentation rate, proteinography, and the assessment of levels of calcium, vitamin D, alkaline phosphatase, and thyroid-stimulating hormone. Optional tests, such as bone turnover markers (BTMs), magnetic resonance imaging, bone scintigraphy, or using a fracture risk assessment tool (FRAX®), did not achieve an agreed consensus. Also, there was consensus regarding the administration of calcium/vitamin D supplements, the withdrawal of toxic habits, and personalized physical exercise. Participants agreed on the administration of teriparatide for 24 months and then a switch to denosumab or bisphosphonates in patients at high risk of fracture. Specialists in osteoporosis, primary care physicians, and geriatricians should be involved in the follow-up of patients with VFF. Although there was multidisciplinary agreement on diagnostic tests and non-pharmacological and pharmacological treatment in frail older people, therapeutic objectives should be individualized for every patient. In addition to the specific recommendations, close collaboration between the geriatrician and the primary care physician is essential for the optimal chronic management of frail patients with fragility fractures.

5.
Rev. Fac. Med. Hum ; 23(4): 92-99, oct.-dic. 2023. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1559078

RESUMO

RESUMEN Objetivo: Obtener la frecuencia de fatiga visual digital (FVD) mediante dos cuestionarios entre los estudiantes de una universidad privada en Lima, Perú; para estimar el grado de concordancia entre ambos métodos. Métodos: Se realizó un estudio transversal en una muestra de 345 participantes mayores de 18 años, estudiantes de una universidad en Lima, Perú y que completaron el instrumento de recogida de datos. Los dos métodos usados para la medición de FVD fueron el cuestionario de Hayes que define un caso positivo para FVD con un puntaje igual o mayor a 20; y el cuestionario CVS-Q de Seguí, que define como positivo para FVD con un puntaje mayor a 6. Se estimó el coeficiente kappa de Cohen con su intervalo de confianza al 95% para medir la concordancia global y por estratos. Resultados: El cuestionario de Hayes identificó a 167 (48,4%) participantes con un diagnostico presuntivo de FVD, el cuestionario de Seguí identificó a 247 (71,6%) estudiantes. En el análisis de concordancia, el coeficiente Kappa de Cohen fue 0,45 (IC95%; 0,37 - 0,53) (p < 0,01) en el análisis global, considerado como moderado. Conclusiones: El grado de concordancia entre ambos métodos fue moderado, el instrumento de Seguí identificó una mayor proporción de estudiantes universitarios con FVD.


ABSTRACT Objective: To obtain the frequency of digital visual fatigue (DVF) using two questionnaires among students of a private university in Lima, Peru; to estimate the degree of agreement between both methods. Methods: A cross-sectional study was conducted in a sample of 345 participants over 18 years old, students of a university in Lima, Peru and who completed the data collection instrument. The two methods used for the measurement of DVF were the Hayes questionnaire, which defines a positive case for DVF with a score equal to or greater than 20; and the Seguí CVS-Q questionnaire, which defines a positive case for DVF with a score greater than 6. The Cohen's kappa coefficient with its 95% confidence interval was estimated to measure the overall agreement and by strata. Results: The Hayes questionnaire identified 167 (48.4%) participants with a presumptive diagnosis of DVF, the Seguí questionnaire identified 247 (71.6%) students. In the concordance analysis, Cohen's Kappa coefficient was 0.45 (95%CI; 0.37 - 0.53) (p < 0.01) in the overall analysis, considered moderate. Conclusion: The degree of concordance between both methods was moderate, the Seguí instrument identified a higher proportion of university students with DVF.

6.
J Pediatr Endocrinol Metab ; 36(5): 505-507, 2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-36972207

RESUMO

OBJECTIVES: Hypoparathyroidism (HypoPT) is a rare disorder and non-surgical cases require careful evaluation, since may be due to genetic, autoimmune, or metabolic factors. CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and inappropriately normal level of intact parathyroid hormone. Main etiologies of primary HypoPT were excluded, so it was suspected to be related to MCAD deficiency. CONCLUSIONS: The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. We present the second case describing the coexistence of both rare diseases. Since HypoPT can be a life-threatening condition, we suggest calcium levels be assessed in these patients on a regular basis. Further research is needed to better understand this complex association.


Assuntos
Hipoparatireoidismo , Erros Inatos do Metabolismo Lipídico , Feminino , Humanos , Adolescente , Acil-CoA Desidrogenase , Erros Inatos do Metabolismo Lipídico/diagnóstico , Mutação
7.
Acta Cardiol ; 78(1): 55-63, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34979883

RESUMO

BACKGROUND: Distal transradial access (dTRA) as a refinement of the conventional transradial access (TRA) has advantages in terms of risk of radial artery occlusion (RAO). In order to evaluate the real-world feasibility and safety of dTRA as the default access site for routine coronary angiography (CAG) and percutaneous coronary intervention (PCI) in a Latin-American centre, this prospective observational registry was conducted. METHODS: Consecutive patients with a prior assessment for CAG and/or PCI were enrolled in this single-centre prospective registry from October 2018 to March 2019. The primary endpoints were the success rate of CAG and PCI. Secondary endpoints included the success rate of puncture of the distal radial artery, complications at the puncture site and puncture time. RESULTS: The success rates of CAG and PCI were 100% (155/155) and 97% (69/71), respectively. Puncture time and fluoroscopic time were 52 ± 19 seconds and 16.3 ± 35.4 minutes, respectively. Haemostasis time was 142 ± 45 min. A total of 19 (12.5%) puncture site complications occurred, including 18 (11.6%) minor haematomas and one (0.6%) arterial perforation, in which the artery was patent at the one-month follow-up. Five patients complained of left thumb numbness at a one-month follow-up. No distal radial artery occlusion, pseudoaneurysm, or arteriovenous fistula occurred. CONCLUSIONS: The success and complication rates of ldTRA support the feasibility and safety of this procedure using the appropriate materials in previously selected patients.


Assuntos
Arteriopatias Oclusivas , Intervenção Coronária Percutânea , Humanos , Angiografia Coronária/efeitos adversos , Angiografia Coronária/métodos , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/métodos , Estudos Prospectivos , Estudos de Viabilidade , Artéria Radial , Resultado do Tratamento
8.
Clin. transl. oncol. (Print) ; 24(11): 2090-2106, noviembre 2022. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-210138

RESUMO

Cancer and cancer therapies are a major factor risk for osteoporosis due to bone loss and deterioration of bone microarchitecture. Both factors contribute to a decrease in bone strength and, consequently, increased bone fragility and risk of fracture. Cancer-associated bone loss is a multifactorial process, and optimal interdisciplinary management of skeletal health, accurate assessment of bone density, and early diagnosis are essential when making decisions aimed at reducing bone loss and fracture risk in patients who have received or are receiving treatment for cancer. In this document, a multidisciplinary group of experts collected the latest evidence on the pathophysiology of osteoporosis and its prevention, diagnosis, and treatment with the support of the Spanish scientific society SEOM. The aim was to provide an up-to-date and in-depth view of osteoporotic risk and its consequences, and to present a series of recommendations aimed at optimizing the management of bone health in the context of cancer. (AU)


Assuntos
Humanos , Densidade Óssea , Mama , Osteoporose/induzido quimicamente , Osteoporose/terapia , Neoplasias da Próstata/complicações , Neoplasias da Próstata/terapia , Pacientes
9.
Clin. transl. oncol. (Print) ; 24(11): 2250-2250, noviembre 2022.
Artigo em Inglês | IBECS | ID: ibc-210153

RESUMO

In the sentence beginning ‘In this document…’ in the Abstract section of this article, the text ‘In this document, a multidisciplinary group of experts collected the latest evidence on the pathophysiology of osteoporosis and its prevention, diagnosis, and treatment with the support of the Spanish scientific societies SEOM, SER, SEIOMM, and SECOT’ should have read ‘In this document, a multidisciplinary group of experts collected the latest evidence on the pathophysiology of osteoporosis and its prevention, diagnosis, and treatment with the support of the Spanish scientific society SEOM’. (AU)


Assuntos
Humanos , Densidade Óssea , Mama , Osteoporose/induzido quimicamente , Osteoporose/terapia , Neoplasias da Próstata/complicações , Neoplasias da Próstata/terapia , Pacientes
11.
Med. clín (Ed. impr.) ; 159(3)agosto 2022. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-206646

RESUMO

Antecedentes y objetivoEl objetivo de este proyecto fue adaptar la primera guía de práctica clínica en la hipofosfatemia ligada al cromosoma X (XLH) aparecida en 2019 a nuestro medio siguiendo un proceso sistemático basado en el método ADAPTE.Materiales y métodosLa adaptación de las guías a nuestro ámbito de aplicación e implementación se llevó a cabo en 3 fases —puesta en marcha, adaptación y finalización— mediante un grupo de expertos implicados en el manejo de los pacientes con XLH.ResultadosSiguiendo la guía original, se presentan las recomendaciones acordadas por el grupo elaborador de las guías para el diagnóstico, la frecuencia y el ámbito de las visitas y el seguimiento específico en niños y adultos. Por otro lado, se establecen las recomendaciones para ambas franjas de edad con tratamiento convencional, así como con burosumab en niños o adultos y las relacionadas al controvertido uso de hormona de crecimiento en niños. También se proponen sugerencias en cuanto al seguimiento y al manejo de las alteraciones del aparato locomotor y tratamiento ortopédico en niños, la salud dental y la audición y las complicaciones neuroquirúrgicas. Por último, se plantean una serie de cuestiones y áreas en las que profundizar en una posible investigación futura.ConclusionesEstas recomendaciones constituyen la adaptación sistemática a nuestro medio de la primera guía de práctica clínica basada en la evidencia para el diagnóstico y el manejo de la XLH, y esperamos que pueda contribuir al manejo adecuado de la enfermedad. (AU)


Background and objectiveThe objective of this project was to adapt to our setting following a systematic process based on the ADAPTE method the first clinical practice guidelines on X-linked hypophosphatemia (XLH) that were published in 2019.Materials and methodsThe adaptation of the guidelines to our application and implementation setting was carried out in three phases —start-up, adaptation, and finalization— by a group of experts involved in the management of patients with XLH.ResultsFollowing the original guide, the recommendations agreed by the group that elaborated the guidelines for diagnosis, frequency and scope of visits and specific follow-up in children and adults are presented. On the other hand, recommendations are established for both age groups with conventional treatment, as well as with burosumab in children or adults and those related to the controversial use of growth hormone in children. Suggestions are also proposed regarding the monitoring and management of musculoskeletal disorders and orthopedic treatment in children, dental health and hearing, and neurosurgical complications. Finally, a series of questions and areas are raised in order to deepen the possible future investigation.ConclusionsThese recommendations constitute the systematic adaptation to our setting of the first evidence-based clinical practice guide for the diagnosis and management of XLH and we hope that they can contribute to the adequate management of the disease. (AU)


Assuntos
Humanos , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Raquitismo Hipofosfatêmico Familiar/terapia , Fatores de Crescimento de Fibroblastos , Hipofosfatemia , Consenso
12.
Clin Transl Oncol ; 24(11): 2090-2106, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35779210

RESUMO

Cancer and cancer therapies are a major factor risk for osteoporosis due to bone loss and deterioration of bone microarchitecture. Both factors contribute to a decrease in bone strength and, consequently, increased bone fragility and risk of fracture. Cancer-associated bone loss is a multifactorial process, and optimal interdisciplinary management of skeletal health, accurate assessment of bone density, and early diagnosis are essential when making decisions aimed at reducing bone loss and fracture risk in patients who have received or are receiving treatment for cancer. In this document, a multidisciplinary group of experts collected the latest evidence on the pathophysiology of osteoporosis and its prevention, diagnosis, and treatment with the support of the Spanish scientific society SEOM. The aim was to provide an up-to-date and in-depth view of osteoporotic risk and its consequences, and to present a series of recommendations aimed at optimizing the management of bone health in the context of cancer.


Assuntos
Conservadores da Densidade Óssea , Osteoporose , Neoplasias da Próstata , Densidade Óssea , Conservadores da Densidade Óssea/efeitos adversos , Mama , Humanos , Masculino , Osteoporose/induzido quimicamente , Osteoporose/terapia , Neoplasias da Próstata/complicações , Neoplasias da Próstata/terapia
14.
Med Clin (Barc) ; 159(3): 152.e1-152.e12, 2022 08 12.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34953573

RESUMO

BACKGROUND AND OBJECTIVE: The objective of this project was to adapt to our setting following a systematic process based on the ADAPTE method the first clinical practice guidelines on X-linked hypophosphatemia (XLH) that were published in 2019. MATERIALS AND METHODS: The adaptation of the guidelines to our application and implementation setting was carried out in three phases -start-up, adaptation, and finalization- by a group of experts involved in the management of patients with XLH. RESULTS: Following the original guide, the recommendations agreed by the group that elaborated the guidelines for diagnosis, frequency and scope of visits and specific follow-up in children and adults are presented. On the other hand, recommendations are established for both age groups with conventional treatment, as well as with burosumab in children or adults and those related to the controversial use of growth hormone in children. Suggestions are also proposed regarding the monitoring and management of musculoskeletal disorders and orthopedic treatment in children, dental health and hearing, and neurosurgical complications. Finally, a series of questions and areas are raised in order to deepen the possible future investigation. CONCLUSIONS: These recommendations constitute the systematic adaptation to our setting of the first evidence-based clinical practice guide for the diagnosis and management of XLH and we hope that they can contribute to the adequate management of the disease.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Adulto , Criança , Consenso , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Raquitismo Hipofosfatêmico Familiar/terapia , Fatores de Crescimento de Fibroblastos , Humanos
15.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1408523

RESUMO

El llanto es una vía de comunicación del recién nacido con el medio circundante. Investigaciones acerca del llanto infantil han correlacionado características acústicas de éste con patologías, demostrándose que el llanto puede reflejar la integridad neurofisiológica del niño y dar una medida de su interacción con el ambiente y su desarrollo cognitivo y social. Esta contribución muestra cómo clasificar el llanto de neonatos con hipoxia y de un grupo de control, en normal o patológico, a través de una red neuronal artificial supervisada. Para implementar la red neuronal se aprovechan las posibilidades de la plataforma MATLAB®. El diseño y estructuración de la red considera algoritmo de aprendizaje o entrenamiento, iteraciones, pruebas e intervalos de clasificación, obteniéndose arquitectura y topología, y funcionalidades de la red neuronal que en la generalización proporciona la mejor clasificación. En el trabajo se aplica el método de selección de casos, el método acústico para extraer parámetros cuantitativos de la señal de llanto en tiempo, intensidad y frecuencia, así como métodos vinculados con el diseño, implementación y validación, con pruebas diagnósticas, de la red neuronal artificial obtenida para cumplir el objetivo del trabajo que es la generación de clases (clasificación del llanto). Con precisión del resultado de clasificación del 90 por ciento se está en condición de concebir una solución informática (agregando interfaz para interactuar con base de datos) para ayudar complementariamente al diagnóstico médico no invasivo usando el llanto del neonato provocado ante dolor(AU)


Cry from newborn (0-28 days) is a way of communication for the interaction with surrounding world. Infant cry researches provide information that correlate among cries acoustic features with pathologies. It has been demonstrated that the infant cry is able to reflect child neurophysiology integrity and give meaning from newborn interaction with environment, also cognitive and social development from child. This contribution shows how to classify the cry of neonates with hypoxia and of a control group, into normal or pathological, through a supervised artificial neural network. Network implementation makes use of MATLAB® platform possibilities. Design and structuring of network take into consideration aspects as training algorithm, iterations, tests and classification intervals. All these referred aspects give as result an architectural, topology and functionalities from neural network able to classify cry in generalization stage offering good outcome. Different methods are applied in this paper as selection of cases, acoustic methods in order to obtain quantitative parameters from cry signals (in time, intensity and frequency domain). Methods related with design, implementation and validation (diagnostic test) of an artificial neural network able to carry out the goal of this paper (classification of cry) are used. With accuracy results in cry classification about 90 percent, authors get ready conditions for an informatic solution (with addition of interface for data base interaction) for help as a non-invasive complement to medical diagnosis using cry from neonate induced by pain(AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Dor/etiologia , Algoritmos , Aplicações da Informática Médica , Choro
16.
Growth Horm IGF Res ; 60-61: 101419, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34358737

RESUMO

PAPP-A2 deficiency is a novel syndrome characterized by short stature due to low IGF bioactivity, skeletal abnormalities and decreased bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) for 1 year demonstrated to increase growth velocity and BMD, without reported adverse effects, but data regarding the long-term efficacy and safety of rhIGF-1 administration in this entity has not yet been reported. Two Spanish siblings with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25*) were treated with rhIGF-1 twice daily for six years. Growth velocity continued to increase and both patients achieved their target height. Free IGF-1 concentrations increased notably after rhIGF-1 administration, with serum IGFBP-3, IGFBP-5 and ALS levels also being higher during treatment. BMD was progressively normalized and an increase in lean mass was also noted during treatment. No episodes of hypoglycemia or any other adverse effects were documented. An increase in the growth of kidney and spleen length was observed in one of the patients.


Assuntos
Estatura , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/administração & dosagem , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Proteína Plasmática A Associada à Gravidez/deficiência , Proteínas Recombinantes/administração & dosagem , Criança , Feminino , Seguimentos , Transtornos do Crescimento/genética , Transtornos do Crescimento/metabolismo , Transtornos do Crescimento/patologia , Humanos , Masculino , Proteína Plasmática A Associada à Gravidez/genética , Prognóstico
17.
Clin Endocrinol (Oxf) ; 95(1): 58-64, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33559169

RESUMO

OBJECTIVE: Acromegaly is associated with increased vertebral fracture (VFs) risk not correlated to bone mineral density (BMD). Trabecular bone score (TBS), related to bone microarchitecture, provides information on bone strength. This cross-sectional study considered the usefulness of TBS and BMD to assess bone status in long-term controlled acromegalic patients. DESIGN, PATIENTS, MEASUREMENTS: 26 acromegaly patients (14 female and 12 males) were included in the study. A further 117 subjects were recruited as controls (58 females and 57 males). BMD was measured using dual-energy X-ray absorptiometry (DXA), TBS was obtained applying Medimaps software 2.0. Biochemical parameters were determined by standardized techniques. RESULTS: 73% of patients with acromegaly exhibited normal lumbar spine (LS) BMD. TBS was normal in 38% of acromegalic patients and partially degraded or degraded in 31% of patients, respectively. No differences were found in LS BMD between acromegalic patients and controls. TBS values were significantly lower in patients with acromegaly (1.27 ± 0.13 vs. 1.35 ± 0.17, p = .01). Postsurgical remission was associated with higher TBS values (1.35 ± 0.10 vs. 1.23 ± 0.13, p = .02) and pituitary radiotherapy treatment with lower TBS values (1.18 ± 0.12 vs. 1.31 ± 0.12, p = .004). On multivariate analysis, age, BMI and LS BMD were predictors of TBS changes in patients with acromegaly (p < .05). CONCLUSIONS: Patients with long-term controlled acromegaly can exhibit deterioration of bone microstructure measured with TBS, despite BMD measurement not showing bone loss. Our study suggests that TBS is useful for monitoring the bone status changes in acromegalic patients.


Assuntos
Acromegalia , Fraturas por Osteoporose , Absorciometria de Fóton , Acromegalia/complicações , Densidade Óssea , Osso Esponjoso/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Masculino
18.
Genes (Basel) ; 13(1)2021 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-35052419

RESUMO

Sclerosteosis is a high bone mass disorder, caused by pathogenic variants in the genes encoding sclerostin or LRP4. Both proteins form a complex that strongly inhibits canonical WNT signaling activity, a pathway of major importance in bone formation. So far, all reported disease-causing variants are located in the third ß-propeller domain of LRP4, which is essential for the interaction with sclerostin. Here, we report the identification of two compound heterozygous variants, a known p.Arg1170Gln and a novel p.Arg632His variant, in a patient with a sclerosteosis phenotype. Interestingly, the novel variant is located in the first ß-propeller domain, which is known to be indispensable for the interaction with agrin. However, using luciferase reporter assays, we demonstrated that both the p.Arg1170Gln and the p.Arg632His variant in LRP4 reduced the inhibitory capacity of sclerostin on canonical WNT signaling activity. In conclusion, this study is the first to demonstrate that a pathogenic variant in the first ß-propeller domain of LRP4 can contribute to the development of sclerosteosis, which broadens the mutational spectrum of the disorder.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Hiperostose/patologia , Proteínas Relacionadas a Receptor de LDL/genética , Mutação , Sindactilia/patologia , Via de Sinalização Wnt , Humanos , Hiperostose/etiologia , Hiperostose/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico , Domínios Proteicos , Sindactilia/etiologia , Sindactilia/metabolismo
19.
Med Sci (Basel) ; 8(4)2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-33271814

RESUMO

The association of low levels of 25 hydroxyvitamin D (25OHD) with papillary thyroid cancer (PTC) is being studied, as to whether it is a risk factor or as a coincidental one. This study aimed to evaluate serum levels of deficiency, insufficiency, and sufficiency of 25OHD in PTC and its relationship with the trabecular bone score (TBS) and bone mineral density (BMD). This study includes 134 postmenopausal women with PTC, followed for 10 years. BMD was measured with DXA Hologic QDR 4500, and TBS with Med-Imaps iNsight2.0 Software. Mean serum 25OHD was 23.09 ± 7.9 ng/mL and deficiency, insufficiency, and sufficiency levels were 15.64 ± 2.9, 25.27 ± 2.7, and 34.7 ng/mL, respectively. Parathyroid hormone (PTH) and bone alkaline phosphatase (BAP) were higher in deficiency (57.65 ± 22.6 ng/mL; 29.5 ± 14 U/L) and in insufficiency (45.88 ± 19.8 ng/mL; 23.47 ± 8.8 U/L) compared with sufficiency of 25OHD (47.13 ± 16 and 22.14± 9.7 ng/mL) (p = 0.062 and p = 0.0440, respectively). TBS was lower in patients with 25OHD < 20 ng/mL (1.24 ± 0.13) compared with between 20-29 (1.27 ± 0.13, p < 0.05) and 30 ng/mL (1.31 ± 0.11, p < 0.01). We found low TBS in patients with PTC and long-term follow-up associated with low serum 25OHD levels, not associated with cancer stage, or accumulative iodine radioactive dose. Low 25OHD associated with deleterious bone quality in patients with PTC should be restored for the prevention of fractures.

20.
Cancer Med ; 9(16): 5746-5755, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32583973

RESUMO

BACKGROUND: Conflicting results has been reported regard osteoporosis and fractures in patients with Differentiated Thyroid Cancer (DTC). Our objective was to evaluate the long-term effects of TSH suppression therapy with Levothyroxine (LT4) on trabecular bone score (TBS) and bone mineral density (BMD) in females with DTC after thyroidectomy. METHODS: About 145 women with resected DTC and receiving long-term TSH therapy, were stratified according to the degree of TSH suppression. Mean duration of follow-up was 12.3 ± 6.1 years. BMD and TBS, were assessed using dual-energy X-ray absorptiometry (DXA) and TBS iNsight (Med-Imaps), at baseline (1-3 months after surgery) and at the final study visit. RESULTS: In patients stratified by duration of TSH suppression therapy (Group I, 5-10 years; Group II, >10 years), slight increases from baseline TSH levels were observed. Significant decreases in LS-BMD and FN-BMD were seen in patients after >10 years. TBS values were lower in Groups I (1.289 ± 0.122) and II (1.259 ± 0.129) compared with baseline values (P = .0001, both groups). Regarding the degree of TSH suppression, TBS was significantly reduced in those with TSH < 0.1 µU/mL (P = .0086), and not in patients with TSH suppression of 0.1.-0.5 or >0.5 µU/mL. CONCLUSIONS: We found deterioration of trabecular structure in patients with DTC and TSH suppression therapy below 0.1 µU/mL and after 5-10 years of follow-up. Significant changes in BMD according to TSH levels were not observed. Trabecular Bone Score is a useful technique for identifying thyroid cancer patients with risk of bone deterioration.


Assuntos
Densidade Óssea/efeitos dos fármacos , Osso Esponjoso/efeitos dos fármacos , Neoplasias da Glândula Tireoide/tratamento farmacológico , Tireotropina/antagonistas & inibidores , Tiroxina/efeitos adversos , Absorciometria de Fóton/métodos , Osso Esponjoso/diagnóstico por imagem , Osso Esponjoso/patologia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Análise Multivariada , Neoplasias da Glândula Tireoide/sangue , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Tireotropina/sangue , Fatores de Tempo
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