Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 55
Filtrar
Mais filtros

Intervalo de ano de publicação
1.
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
2.
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
3.
Horm Metab Res ; 51(3): 186-190, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30861565

RESUMO

Following a parathyroidectomy there is a bone mineral density (BMD) improvement in patients with primary hyperparathyroidism. However, data of bone microarchitecture are scarce. Trabecular bone score (TBS) estimates bone microarchitecture and could provide valuable information in those patients. The aim of this study is to assess TBS changes 2 years after successful surgery in a group of patients with primary hyperparathyroidism and correlate these results with changes in BMD and bone turnover markers. This is a prospective study including 32 patients. In all participants BMD and TBS were measured, before and 24 months after surgery. Biochemical data: serum calcium, PTH, 25-OH-vitamin D, beta-crosslaps, bone alkaline phosphatase, and osteocalcin. 25 female and 7 male patients, mean age 64.6±12.4 years, were included in the study. At baseline, BMD was low at: lumbar spine (T-score -2.19±1.31), total hip (-1.33±1.12), femoral neck (-1.75±0.84), and distal one-third radius (-2.74±1.68). Baseline TBS showed partially degraded microarchitecture (1.180±0.130). After parathyroidectomy lumbar spine BMD increased significantly (5.3±13.0%, p<0.05), as well as total hip (3.8±8.8%, p<0.05). There was an increase in TBS, but this was not significant. There was a correlation between TBS and BAP at baseline (rs=0.73; p<0.01) and TBS and BAP 2 years after surgery (rs=0.57, p<0.05). Although bone density improves 2 years after surgery in patients with primary hyperparathyroidism and there is a restoration of bone turnover markers, TBS is not completely restored. These results remark the necessity of longer periods of study, to confirm if bone microarchitecture could be completely restored after surgery.


Assuntos
Densidade Óssea/fisiologia , Cálcio/sangue , Osso Esponjoso/diagnóstico por imagem , Hiperparatireoidismo/cirurgia , Hormônio Paratireóideo/sangue , Vitamina D/análogos & derivados , Idoso , Fosfatase Alcalina/sangue , Biomarcadores/sangue , Feminino , Humanos , Hiperparatireoidismo/sangue , Hiperparatireoidismo/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Paratireoidectomia , Estudos Prospectivos , Vitamina D/sangue
4.
Transpl Int ; 29(3): 331-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26615002

RESUMO

The aim of this study was to analyse the effect of risedronate on Trabecular Bone Score in liver transplant patients with low bone mass, during 1-year follow-up. In this retrospective cohort study, trabecular bone score (TBS) was calculated from dual X-ray absorptiometry images of the lumbar spine (LS), collected from a prospective randomized open-label 1-year trial performed in liver recipient patients. A total of 89 patients with osteopenia or osteoporosis were randomized to receive RIS plus calcium and vitamin D3 or calcium and vitamin D3. TBS was low in both groups at baseline, 6 and 12 months. Baseline TBS at the LS showed degraded microarchitecture in 22.8% of patients, partially degraded in 40.3%, and normal values in 36.8% of the patients. After 1 year of treatment, no difference in TBS was observed between both groups. No correlations were found between bone mineral density (BMD) and TBS values at any follow-up time point. No relationship was found between BMD, TBS or immunosuppressive drugs with incidental fracture. No significant effect in TBS was observed in liver transplant patients treated with RIS or calcium and vitamin D3 after 1 year of follow-up. In these patients, the clinical usefulness of this new tool should be established.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Transplante de Fígado , Osteoporose/tratamento farmacológico , Complicações Pós-Operatórias/tratamento farmacológico , Ácido Risedrônico/uso terapêutico , Idoso , Conservadores da Densidade Óssea/farmacologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ácido Risedrônico/farmacologia
5.
BMC Musculoskelet Disord ; 17: 227, 2016 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-27215972

RESUMO

BACKGROUND: Atypical femoral fractures (AFF) are a rare type of femoral stress fracture recently described, potentially associated with prolonged bisphosphonate therapy. Evidence-based recommendations regarding diagnosis and management of these fractures are scarce. The purpose of this study is to propose an algorithm for the diagnosis and management of AFF. METHODS: We performed a PubMed search of the last ten years using the keywords "atypical femoral fractures" and identified further articles through an evaluation of the publications cited in these articles. Relevant studies were included by agreement between researchers, depending on their specialization. Pertinent points of debate were discussed based on the available literature, allowing for consensus regarding the proposed management algorithm. RESULTS: Using a systematic approach we performed a scoping review that included a total of 137 articles. CONCLUSIONS: A practical guide for diagnosis and management of AFF based on the current concepts is proposed. In spite of the impressive large volume of published literature available since AFF were initially identified, the level of evidence is mostly poor, in particular regarding treatment choice. Therefore, further studies are required.


Assuntos
Difosfonatos/efeitos adversos , Fraturas do Fêmur/cirurgia , Fraturas de Estresse/cirurgia , Osteoporose/tratamento farmacológico , Algoritmos , Difosfonatos/uso terapêutico , Medicina Baseada em Evidências/normas , Fraturas do Fêmur/diagnóstico , Fêmur/diagnóstico por imagem , Fraturas de Estresse/diagnóstico , Humanos , Guias de Prática Clínica como Assunto , Radiografia
6.
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.

7.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-39128698

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.

8.
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.

9.
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
10.
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
11.
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
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
13.
Transpl Int ; 24(7): 657-65, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21466595

RESUMO

The aim of this study was to investigate the effect of risedronate (RIS) on bone loss and bone turnover markers after liver transplantation (LT). Patients with osteopenia or osteoporosis within the first month after LT were randomized to receive RIS 35 mg/week plus calcium 1000 mg/day and vitamin D(3) 800 IU/day (n = 45) or calcium and vitamin D(3) at same dosages (n = 44). Primary endpoint was change in bone mineral density (BMD) 6 and 12 months after LT. Secondary endpoints included changes in serum ß-CrossLaps (ß-CTX) and procollagen type 1 amino-terminal peptide (P1NP) and fracture rate. Spine X-rays were obtained at baseline and after 12 months. There was no significant difference in BMD changes between both treatment groups at any sites; either at 6 or 12 months. Spine BMD increased in both groups at 12 months vs. baseline (P = 0.001). RIS patients had a significant increase in intertrochanteric BMD at 12 months (P < 0.05 vs. baseline). Serum ß-CTX decreased in both groups (P < 0.01), with significant differences between groups at 3 months. No significant difference in vertebral fracture incidence was found. After 12 months, BMD improved at lumbar spine and did not change at hip in both groups. Significant differences between both groups were not found. Other factors (calcium and vitamin D replacement, early prednisone withdrawal) seem to have also positive effects in BMD.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Densidade Óssea/efeitos dos fármacos , Remodelação Óssea/efeitos dos fármacos , Ácido Etidrônico/análogos & derivados , Transplante de Fígado/efeitos adversos , Adulto , Cálcio/uso terapêutico , Colecalciferol/uso terapêutico , Ácido Etidrônico/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pós-Menopausa , Estudos Prospectivos , Ácido Risedrônico , Fraturas da Coluna Vertebral/prevenção & controle
14.
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
15.
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
16.
Adv Ther ; 37(Suppl 2): 80-88, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32236875

RESUMO

Hypophosphataemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting in which the participation of fibroblast growth factor 23 (FGF23) can be prominent. These diseases pose therapeutic challenges with important consequences for growth and bone development in childhood, with higher risk of fractures and poorer bone healing, dental problems, and nephrolithiasis or nephrocalcinosis. In some cases, the diagnostic delay can be very long; laboratory findings and an exhaustive anamnesis could help distinguish between various pathologies, and FGF23 values-although currently not routinely measured-have implications for the differential diagnosis. Genetic testing is encouraged, especially in sporadic or insidious cases. In this review we discuss the clinical features of HR, with a particular emphasis on the differential diagnosis and the therapeutic implications.


Assuntos
Biomarcadores/sangue , Diagnóstico Diferencial , Fatores de Crescimento de Fibroblastos/genética , Fenótipo , Raquitismo Hipofosfatêmico/diagnóstico , Raquitismo Hipofosfatêmico/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos/sangue , Variação Genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade
17.
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.

18.
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
19.
Surgery ; 165(4): 814-819, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30554726

RESUMO

BACKGROUND: Although bone mineral density is reported to be increased in patients with postsurgical hypoparathyroidism (postsurgical HypoPT), the effect of HypoPT on trabecular bone score remains unknown. This study evaluated the long-term effects of HypoPT secondary to total thyroidectomy for differentiated thyroid cancer on trabecular bone score, bone mineral density, and bone turnover markers with a similar group of patients without HypoPT. METHODS: Women with resected differentiated thyroid cancer and either postsurgical HypoPT (n = 25; 8 premenopausal and 17 postmenopausal) or euparathyroid function (n = 98; 14 premenopausal and 84 postmenopausal) were matched for age and body mass index. Patients received thyroid-stimulating hormone suppression during follow-up. The bone mineral density and trabecular bone score were analyzed using dual x-ray densitometry and Med-Imaps software at baseline (1-3 months postsurgery) and at the final study visit. RESULTS: Follow-up duration was similar in studied groups (median 10 years). Baseline bone mineral density and trabecular bone score were similar between HypoPT and non-HypoPT patients, regardless of menopausal status. At study end, postmenopausal HypoPT patients had greater bone mineral density versus the non-HypoPT patients at the lumbar spine, hip, and distal radius (P = .001), and a greater trabecular bone score (1.31 ± 0.09 vs 1.24 ± 0.12, P = .0184). Premenopausal patients with and without HypoPT had similar bone mineral density values at the final evaluation. The bone turnover markers (osteocalcin, bone-specific alkaline phosphatase, and ß-crosslaps) were less in postmenopausal HypoPT patients, reflecting decreased bone turnover. CONCLUSION: Postmenopausal patients who underwent a total thyroidectomy for differentiated thyroid cancer with postsurgical HypoPT have greater trabecular bone score and bone mineral density compared with euparathyroid patients, suggesting that HypoPT protects against the negative effects of long-term thyroid-stimulating hormone suppression treatment on bone.


Assuntos
Densidade Óssea , Osso Esponjoso/patologia , Hipoparatireoidismo/metabolismo , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Adulto , Idoso , Remodelação Óssea , Feminino , Humanos , Pessoa de Meia-Idade , Osteocalcina/sangue
20.
Endocrine ; 64(3): 441-455, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30963388

RESUMO

Several antiresorptive drugs, like bisphosphonates and denosumab, are currently available for the treatment of osteoporosis due to their evidenced efficacy in reducing fracture risk at mid-term. Osteoanabolic therapies, like teriparatide, whose treatment duration is limited to 2 years, have also shown efficacy in the reduction of fracture risk. However, depending on the severity of osteoporosis and the presence of other associated risk factors for fracture, some patients may require long-term treatment to preserve optimal bone strength and minimize bone fracture risk. Given the limited duration of some treatments, the fact that most of the antiresorptive drugs have not been assessed beyond 10 years, and the known long-term safety issues of these drugs, including atypical femoral fractures or osteonecrosis of the jaw, the long-term management of these patients may require an approach based on drug discontinuation and/or switching. In this regard, interest in sequential osteoporosis therapy, wherein drugs are initiated and discontinued over time, has grown in recent years, although the establishment of an optimal and individualized order of therapies remains controversial. This review reports the currently available clinical evidence on the discontinuation effects of different anti-osteoporotic drugs, as well as the clinical outcomes of the different sequential treatment regimens. The objective of this article is to present up-to-date practical knowledge on this area in order to provide guidance to the clinicians involved in the management of patients with osteoporosis.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Densidade Óssea/efeitos dos fármacos , Difosfonatos/uso terapêutico , Osteoporose/tratamento farmacológico , Conservadores da Densidade Óssea/administração & dosagem , Difosfonatos/administração & dosagem , Humanos , Fatores de Risco , Suspensão de Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA