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2.
Pituitary ; 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38940859

RESUMO

AIM: To investigate the impact of pituitary surgery on glucose metabolism and to identify predictors of remission of diabetes after pituitary surgery in patients with acromegaly. METHODS: A national multicenter retrospective study of patients with acromegaly undergoing transsphenoidal surgery for the first time at 33 tertiary Spanish hospitals (ACRO-SPAIN study) was performed. Surgical remission of acromegaly was evaluated according to the 2000 and 2010 criteria. RESULTS: A total of 604 acromegaly patients were included in the study with a total median follow up of 91 months (interquartile range [IQR] 45-163). At the acromegaly diagnosis, 23.8% of the patients had diabetes mellitus (DM) with a median glycated hemoglobin (HbA1c) of 6.9% (IQR 6.4-7.9) [51.9 mmol/mol (IQR 46.4-62.8)]. In the multivariate analysis, older age (odds ratio [OR] 1.02, 95% CI 1.00-1.05), dyslipidemia (OR 5.25, 95% CI 2.81 to 9.79), arthropathy (OR 1.39, 95% CI 2.82 to 9.79), and higher IGF-I levels (OR 1.30, 95% CI 1.05 to 1.60) were associated with a greater prevalence of DM. At the last follow-up visit after surgery, 21.1% of the DM patients (56.7% of them with surgical remission of acromegaly) experienced diabetes remission. The cure rate of DM was more common in older patients (hazard ratio [HR] 1.77, 95% CI 1.31 to 2.43), when surgical cure was achieved (HR 2.10, 95% CI 1.01 to 4.37) and when anterior pituitary function was not affected after surgery (HR 3.38, 95% CI 1.17 to 9.75). CONCLUSION: Glucose metabolism improved in patients with acromegaly after surgery and 21% of the diabetic patients experienced diabetes remission; being more frequent in patients of older age, and those who experienced surgical cure and those with preserved anterior pituitary function after surgery.

3.
Endocr Relat Cancer ; 31(7)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38713182

RESUMO

The objective of the study was to evaluate the efficacy of second-line therapies in patients with acromegaly caused by a growth hormone (GH) and prolactin (PRL) co-secreting pituitary neuroendocrine tumor (GH&PRL-Pit-NET) compared to their efficacy in patients with acromegaly caused by a GH-secreting pituitary neuroendocrine tumor (GH-Pit-NET). This is a multicenter retrospective study of patients with acromegaly on treatment with pasireotide and/or pegvisomant. Patients were classified in two groups: GH&PRL-Pit-NETs when evidence of hyperprolactinemia and immunohistochemistry (IHC) for GH and PRL was positive or if PRL were >200 ng/dL regardless of the PRL-IHC and GH-Pit-NETs when the previously mentioned criteria were not met. A total of 28 cases with GH&PRL-Pit-NETs and 122 with GH-Pit-NETs met the inclusion criteria. GH&PRL-Pit-NETs presented at a younger age, caused hypopituitarism, and were invasive more frequently than GH-Pit-NETs. There were 124 patients treated with pegvisomant and 49 with pasireotide at any time. The efficacy of pegvisomant for IGF-1 normalization was of 81.5% and of pasireotide of 71.4%. No differences in IGF-1 control with pasireotide and with pegvisomant were observed between GH&PRL-Pit-NETs and GH-Pit-NETs. All GH&PRL-Pit-NET cases treated with pasireotide (n = 6) and 82.6% (n = 19/23) of the cases treated with pegvisomant normalized PRL levels. No differences in the rate of IGF-1 control between pegvisomant and pasireotide were detected in patients with GH&PRL-Pit-NETs (84.9% vs 66.7%, P = 0.178). We conclude that despite the more aggressive behavior of GH&PRL-Pit-NETs than GH-Pit-NETs, no differences in the rate of IGF-1 control with pegvisomant and pasireotide were observed between both groups, and both drugs have shown to be effective treatments to control IGF-1 and PRL hypersecretion in these tumors.


Assuntos
Acromegalia , Hormônio do Crescimento Humano , Tumores Neuroendócrinos , Prolactina , Somatostatina , Humanos , Somatostatina/análogos & derivados , Somatostatina/uso terapêutico , Masculino , Feminino , Hormônio do Crescimento Humano/análogos & derivados , Hormônio do Crescimento Humano/uso terapêutico , Pessoa de Meia-Idade , Adulto , Prolactina/sangue , Prolactina/metabolismo , Estudos Retrospectivos , Tumores Neuroendócrinos/tratamento farmacológico , Tumores Neuroendócrinos/metabolismo , Acromegalia/tratamento farmacológico , Acromegalia/metabolismo , Neoplasias Hipofisárias/tratamento farmacológico , Neoplasias Hipofisárias/metabolismo , Idoso , Adulto Jovem
4.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(3): 138-143, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38555111

RESUMO

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.


Assuntos
Atresia das Cóanas , Microftalmia , Nariz/anormalidades , Humanos , Proteínas Cromossômicas não Histona/genética , Proteínas Cromossômicas não Histona/metabolismo , Atresia das Cóanas/genética , Microftalmia/diagnóstico , Microftalmia/genética
5.
Breast Cancer Res ; 26(1): 47, 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38486203

RESUMO

Breast cancer-related lymphedema is currently one of the most serious complications that most affect the quality of life of women undergoing breast cancer. The aim of this study was to explore in-depth the experience of women who suffer from lymphoedema after breast cancer and how does this condition affect corporeality, with no judgements. For this purpose, a qualitative methodology was followed. In-depth interviews, interviewer's field notes and participants' letters were used for data collection. The participants were twenty Spanish women with lymphoedema after overcome a breast cancer in the past. Healthcare specialists with experience in the topic were also included. Results showed 2 main categories: "From cancer to lymphedema, another disease another disease" and "Potential for transition and transformation towards a new way of life". As a conclusion, the difficulty in accessing adequate treatment, the need for greater awareness of lymphedema and the importance of the emotional and psychological dimension of this chronic disease. Highlighting the attitudes that these women develop for self-care and the concept of new corporeality. After breast cancer, women with lymphedema experience a drastic change that affects all areas of their lives. The adaptation process, and the search for resources and aid, play a fundamental role in overcoming this process.


Assuntos
Neoplasias da Mama , Sobreviventes de Câncer , Linfedema , Feminino , Humanos , Neoplasias da Mama/complicações , Neoplasias da Mama/terapia , Imagem Corporal , Qualidade de Vida , Linfedema/etiologia
6.
Artigo em Inglês | MEDLINE | ID: mdl-38362680

RESUMO

OBJECTIVE: The purpose of this study was to identify predictive and risk factors for the development of immune-related endocrinopathies and to analyze the incidence and characteristics of immune-related endocrinopathies in our population Design: A retrospective, single-centre cohort carried out at Gregorio Marañón Hospital between January 2018 -December 2019. METHODS: A total of 163 patients were enrolled. In January 2018 and December 2019, we treated patients who underwent ICI treatment in the Medical Oncology Department of General University Hospital Gregorio Marañón, a tertiary care public hospital in Madrid, as part of an observational, retrospective, single-center cohort study. RESULTS: Endocrinopathies were diagnosed in 19.5% of the patients (n=32). The tumours with the highest incidence of endocrinopathies were non-small cell lung cancer (25,9%), kidney cell cancer (25%) and hepatocarcinoma (20%). Among the 32 patients who developed endocrinopathy, 18,8%, 19,13%, and 21,28% received anti-CTLA-4, anti-PD-1 and anti-PDL-1, respectively. Thyroid dysfunction was the most frequent endocrinopathy (12,8%). A higher percentage of patients with negative antiTPO and antiTG antibodies developed G1 hypothyroidism compared to patients with positive antibodies who developed a higher proportion of G2 hypothyroidism. The presence of an initial phase of thyrotoxicity was not related to greater severity. We observed longer progression-free survival in patients who developed thyroid dysfunction. CONCLUSION: Pre-existing antibodies were independently associated with endocrinopathies. Moreover, our study let us conclude that the presence of thyroid autoantibodies may be related to its severity. It is important to determine anti-thyroid antibodies prior to the start of immunotherapy as a risk factor for thyroid dysfunction, which in turn is a prognostic marker.

7.
Endocrinol Diabetes Nutr (Engl Ed) ; 69(10): 816-827, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36494292

RESUMO

INTRODUCTION: Thyroid nodules (TN) are a prevalent pathology that can generate morbidity, in which case the traditional treatment is usually surgery. OBJECTIVE: To analyse the efficacy of radiofrequency ablation (RFA) treatment as a therapeutic alternative in the combined clinical, morphological, and functional control of predominantly solid, benign and clinically relevant TNs in patients not subsidiary to surgery. MATERIALS AND METHODS: A descriptive, retrospective, case series study was carried out to assess the efficacy and safety of the use of RFA. According to medical criteria, the selected patients underwent a clinical, ultrasound, and biochemical assessment prior to the procedure and then after the procedure at 1, 3, 6, and 12 months and then every 6-12 months according to medical criteria. RESULTS: A total of 100 RFA were performed on 83 patients with 85 TNs of ≥2.5 cm with an initial volume (IV) of 21.48 ±â€¯15.89 ml. After a mean of 1.17 RFA sessions per TN, the volume decreased progressively and significantly (p < 0.01 for all times compared to the initial value), with a mean volume reduction rate (VRR) in relation to the IV of 54.43 ±â€¯19.56% at 1-month follow-up; 67.69 ±â€¯17% at 3 months; 70.38 ±â€¯15.46% at 6 months; 70.67 ±â€¯17.27% at 12 months and 70.24 ±â€¯17.7% at the last follow-up. 88% of the patients followed up >6 months achieved the combined objective of a volume reduction rate of more than 50% of the VI, thyroid normal function and absence of clinic; and in all of these, it was maintained until the final follow-up date. Acute complications (mostly mild and all transient) were reported in 9 of the 100 RFA performed. CONCLUSION: Our findings validate in our setting the efficacy and safety of RFA in predominantly large and solid TNs, and add undescribed information to position the technique more favourably as a therapeutic alternative.


Assuntos
Ablação por Radiofrequência , Nódulo da Glândula Tireoide , Humanos , Ablação por Radiofrequência/métodos , Estudos Retrospectivos , Nódulo da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Resultado do Tratamento
8.
Pediatr. catalan ; 82(1): 7-14, Gener - Març 2022. ilus, tab
Artigo em Catalão | IBECS | ID: ibc-210591

RESUMO

Fonament. La paràlisi facial perifèrica idiopàtica, o paràliside Bell, és la paràlisi facial més freqüent en la poblaciópediàtrica. La clínica pot incloure manifestacions motores,sensitives, autonòmiques i emocionals. Representa undiagnòstic d’exclusió, i és necessari descartar la presènciade signes o símptomes d’alarma que suggereixin una etiologia diferent. El tractament es basa en mesures de protecció i hidratació ocular, i l’ús de corticoesteroides en l’edatpediàtrica és controvertit.Objectiu. Descriure la clínica, el diagnòstic diferencial i eltractament de la paràlisi de Bell, analitzant l’evidència disponible actualment sobre l’ús de corticoesteroides.Mètode. Es fa una revisió bibliogràfica.Resultats. Els cinc treballs analitzats, incloent-hi dues revisions sistemàtiques, suggereixen la manca de benefici delscorticoesteroides, ja que no observen que tinguin impacteen la recuperació experimentada pels pacients pediàtrics.Destaca, però, l’absència d’estudis prospectius aleatoritzats, de manera que l’evidència prové de treballs amb graud’evidència baix.Conclusions. La paràlisi de Bell en infants presenta taxes derecuperació espontània molt elevades (85-97%), tot i queles seqüeles també són possibles. Actualment, el tractament es basa en mesures generals. És dubtosa la necessitat d’ús de corticoesteroides, a l’espera de la publicació denous treballs els pròxims anys. (AU)


Fundamento. La parálisis facial periférica idiopática, o parálisis deBell, es la parálisis facial más frecuente en la población pediátrica. La clínica puede incluir manifestaciones motoras, sensitivas,autonómicas y emocionales. Representa un diagnóstico de exclusión, y es necesario descartar la presencia de signos o síntomas dealarma que sugieran una etiología diferente. El tratamiento se basaen medidas de protección e hidratación ocular, y el uso de loscorticosteroides en la edad pediátrica es controvertido.Objetivo. Describir la clínica, el diagnóstico diferencial y el tratamiento de la parálisis de Bell, analizando la evidencia disponibleactualmente sobre el uso de corticosteroides. Método. Se realiza una revisión bibliográfica.Resultados. Los cinco trabajos analizados, incluyendo dos revisiones sistemáticas, sugieren la falta de beneficio de los corticosteroides, pues no observan impacto de estos en la recuperaciónexperimentada por los pacientes pediátricos. Destaca, no obstante, la ausencia de estudios prospectivos aleatorizados, por loque la evidencia proviene de trabajos con un grado de evidenciabajo.Conclusiones. La parálisis de Bell en niños presenta tasas de recuperación espontánea muy elevadas (85-97%), aunque las secuelastambién son posibles. Actualmente, el tratamiento se basa enmedidas generales. Es dudosa la necesidad de uso de corticosteroides, a la espera de la publicación de nuevos trabajos en lospróximos años. (AU)


Background. Idiopathic peripheral facial palsy, or Bell’s palsy, isthe most common facial paralysis in the pediatric population. Theclinical presentation can include motor, sensory, autonomic, andemotional manifestations. It represents a diagnosis of exclusionand thus it is always necessary to rule out the presence of alarmsigns or symptoms that would suggest a different etiology.Treatment is based on eye protection and hydration measures,while the application of corticosteroids in children is controversial.Objective. To describe the clinical characteristics, differential diagnosis, and treatment of Bell’s palsy, including a review of the available evidence on the use of corticosteroids.Method. Literature review.Results. The five studies analysed, including two systematic reviews, suggest the lack of benefit of corticosteroids, since an impact on recovery experienced by pediatric patients has not beendocumented. However, the absence of prospective randomizedstudies limits the validity of the findings, since the only data available originates from studies with a low level of evidence.Conclusions. Bell’s palsy in children presents high recovery rates(85-97%), although sequelae are possible. Current treatment isbased in general supportive measures. The need of corticoids isstill a controversial issue and further research is needed. (AU)


Assuntos
Humanos , Paralisia Facial , Corticosteroides , Pediatria/tendências
9.
Endocrinol Diabetes Nutr (Engl Ed) ; 68(6): 381-388, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34742471

RESUMO

BACKGROUND: Inferior petrosal sinus sampling (IPSS) is indicated in the diagnosis of adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS), especially when the results of the initial diagnostic tests are discordant. OBJECTIVE: To describe the patients who underwent this invasive functional test in a tertiary hospital. METHODS: This was an observational study of a retrospective cohort of patients with ACTH-dependent CS and IPSS between 2004 and 2019. We determined their epidemiological, hormonal, radiological and functional characteristics, and evaluated their diagnostic capacity and optimal cut-off points to differentiate between Cushing's disease (CD) and ectopic Cushing's syndrome (ECS). RESULTS: 23 patients were evaluated, of which 65.2% were women with the average age of 42 (36-62) years. ACTH secretion of pituitary origin was evident in 82.6% of the patients and of ectopic origin in 17.4%. Plasma cortisol, urinary free cortisol, and ACTH levels were higher in patients with ECS. Regarding IPSS, the baseline central/peripheral ACTH gradient detected 89.5% of patients with CD and after stimulation with CRH, 100%. The optimal cut-off points in the diagnosis of CD were 2.06 at baseline and 2.49 after CRH stimulation. CONCLUSION: IPSS with CRH stimulation is a test with a high diagnostic accuracy for correctly classifying patients with CD and ECS. The cut-off points of the gradients may be different from the classic ones. Therefore, we recommend that each center perform its own evaluation.


Assuntos
Hormônio Liberador da Corticotropina/uso terapêutico , Síndrome de Cushing , Amostragem do Seio Petroso , Hormônio Adrenocorticotrópico , Adulto , Síndrome de Cushing/diagnóstico , Feminino , Humanos , Hidrocortisona , Masculino , Pessoa de Meia-Idade , Hipersecreção Hipofisária de ACTH/diagnóstico , Estudos Retrospectivos , Centros de Atenção Terciária
10.
Endocrinol Diabetes Nutr (Engl Ed) ; 68(5): 312-320, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34556261

RESUMO

Systemic infiltrative diseases are relatively rare conditions consisting of cell infiltration or substance deposition in multiple organs and systems, including endocrine glands. This article reviews endocrine changes in the main four diseases at epidemiological level: sarcoidosis, Langerhans cell histiocytosis, hereditary hemochromatosis, and systemic amyloidosis. Recommendations to endocrinologists for hormone work-up and management of patients with each of these conditions are provided.


Assuntos
Amiloidose , Doenças do Sistema Endócrino , Hemocromatose , Histiocitose de Células de Langerhans , Sarcoidose , Doenças do Sistema Endócrino/epidemiologia , Hemocromatose/epidemiologia , Humanos , Sarcoidose/diagnóstico
11.
Endocrinol Diabetes Nutr (Engl Ed) ; 68(5): 312-320, 2021 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33183988

RESUMO

Systemic infiltrative diseases are relatively rare conditions consisting of cell infiltration or substance deposition in multiple organs and systems, including endocrine glands. This article reviews endocrine changes in the main four diseases at epidemiological level: sarcoidosis, Langerhans cell histiocytosis, hereditary hemochromatosis, and systemic amyloidosis. Recommendations to endocrinologists for hormone work-up and management of patients with each of these conditions are provided.

12.
J Clin Med ; 9(12)2020 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-33339196

RESUMO

The aim of this study is to describe the short-term effects of manual lymph drainage (MLD) isolated in supraclavicular area in healthy subjects. A 4-week cross-sectional, double-blinded randomized clinical trial was conducted. Participants: 24 healthy participants between 18 and 30 years old were recruited from Universidad Europea de Madrid from December 2018 to September 2019. A total of four groups were studied: control, placebo, Vodder, and Godoy. The order of the interventions was randomized. Resting Heart Rate and Oxygen Saturation, blood pressure, pressure pain threshold of trapezius muscle, respiratory rate, range of active cervical movements were measured before and after every intervention. All the participants fulfilled four different interventions with a one-week-wash-out period. No statistically significant differences were found between groups in descriptive data; neither in saturation of oxygen, diastolic blood pressure and cervical range of motion. Significant differences were found in favor of Vodder (p = 0.026) in heart rate diminution and in cardiac-rate-reduction. A significant difference in respiratory rate diminution is found in favor of the Godoy group in comparison with the control group (p = 0.020). A significant difference is found in favor of the Godoy group in systolic blood pressure decrease (p = 0.015) even in pressure pain threshold (p < 0.05). MLD decreases systolic blood pressure in healthy participants. However, it does not produce any changes in other physiologic outcomes maintaining physiologic values, which may suggest the safety of the technique in patients suffering from other pathologies.

13.
Anticancer Res ; 35(11): 6291-5, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26504065

RESUMO

AIM: To determine if positive dual staining of p16/Ki-67 in cytology samples from women with atypical squamous cells of undetermined significance (ASC-US), low-grade squamous intraepithelial lesion (LSIL) or normal cytological reports with presence of high-risk human papillomavirus (HPV), helps in predicting the risk of developing high-grade cervical lesions during one-year of follow-up after a normal initial colposcopy. MATERIALS AND METHODS: One-hundred and sixty women with ASC-US, LSIL or otherwise normal cytology, but with the presence of high-risk HPV, were referred to the colposcopy Unit of our Hospital. Cytology and HPV testing were repeated and dual staining of p16/Ki-67 performed on a new cytological specimen, and subsequently patients were colposcopically assessed and prospectively followed-up for one year, after which the colposcopy was repeated. An optional intermediate colposcopical assessment after six months was also offered. RESULTS: Out of 143/160 women with a normal initial colposcopy, 13 were ultimately lost to follow-up. Out of the remaining 130, nine developed histologically verified cervical intraepithelial neoplasia or higher grade (CIN2+) lesions during the one-year follow-up period. Two thirds of them (6/9) were initially p16/Ki-67-positive. CONCLUSION: Biomarker detection may identify women at higher risk of CIN2+, and these women may benefit from early colposcopic assessment. Women who test negatively for the biomarkers could eventually follow a less aggressive protocol.


Assuntos
Células Escamosas Atípicas do Colo do Útero/patologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , DNA Viral/análise , Antígeno Ki-67/metabolismo , Infecções por Papillomavirus/diagnóstico , Displasia do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/diagnóstico , Adolescente , Adulto , Células Escamosas Atípicas do Colo do Útero/metabolismo , Células Escamosas Atípicas do Colo do Útero/virologia , Biomarcadores Tumorais/metabolismo , Estudos de Casos e Controles , Colposcopia , Citodiagnóstico , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/metabolismo , Infecções por Papillomavirus/virologia , Prognóstico , Neoplasias do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/virologia , Esfregaço Vaginal , Adulto Jovem , Displasia do Colo do Útero/metabolismo , Displasia do Colo do Útero/virologia
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