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1.
Clin Lab ; 70(5)2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38747917

RESUMO

BACKGROUND: Hyperthyroidism can lead to diverse hematological disorders, such as microcytosis and a mild increase in hemoglobin A2 fraction. METHODS: This study reported a 31-year-old woman of Moroccan origin recently diagnosed with Graves' disease. Her blood tests revealed microcytosis, hypochromia, and a normal ferritin level. A phenotypic analysis of hemo-globin was performed using two techniques: capillary electrophoresis and reversed-phase high performance liquid chromatography. RESULTS: Both techniques indicated a slight increase in hemoglobin A2 level. These results initially suggested het-erozygous beta-thalassemia, eventually correlating with the concurrent presence of Graves' disease, as evidenced by the normalization of hemoglobin A2 level following treatment. CONCLUSIONS: This case highlights the importance of having clinical, biological, and therapeutic data for a relevant interpretation of a phenotypic hemoglobin study.


Assuntos
Doença de Graves , Hemoglobina A2 , Humanos , Doença de Graves/sangue , Doença de Graves/diagnóstico , Doença de Graves/complicações , Feminino , Adulto , Hemoglobina A2/análise , Talassemia beta/sangue , Talassemia beta/complicações , Talassemia beta/diagnóstico , Eletroforese Capilar/métodos , Cromatografia Líquida de Alta Pressão , Fenótipo
2.
J Med Life ; 17(1): 116-122, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38737666

RESUMO

Ultrasound can identify important characteristics in primary hypothyroidism and diffuse hyperthyroidism (Graves' disease). Therefore, sonologists are actively investigating ultrasound criteria to differentiate between these two conditions. Nevertheless, practice shows the absence of such ultrasonic landmarks. For the first time in the literature, three cases of primary hypothyroidism have demonstrated an ultrasound pattern identical to that of Graves' disease. This pattern includes the presence of goiter, marked total hypoechogenicity of the parenchyma, significantly or moderately increased blood flow intensity ('thyroid inferno'), and elevated peak systolic velocity of the superior thyroid arteries. These signs are less common in hypothyroidism compared to hyperthyroidism. Diagnostic data suggest that the pathogeneses of primary hypothyroidism and Graves' disease share the same mechanisms, leading to similar thyroid ultrasound patterns. One of these shared mechanisms is presumably thyroid overstimulation by the autonomic nervous system, which is adequate to the body's hormonal requirements in hypothyroidism but excessive in hyperthyroidism.


Assuntos
Doença de Graves , Hipotireoidismo , Glândula Tireoide , Ultrassonografia , Humanos , Doença de Graves/diagnóstico por imagem , Doença de Graves/complicações , Hipotireoidismo/diagnóstico por imagem , Hipotireoidismo/complicações , Ultrassonografia/métodos , Glândula Tireoide/diagnóstico por imagem , Feminino , Pessoa de Meia-Idade , Adulto , Masculino
3.
Front Endocrinol (Lausanne) ; 15: 1301213, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38742199

RESUMO

Purpose: To investigate the relationship between bone turnover markers (BTMs) and thyroid indicators in Graves' disease (GD) and to further assess predictive value of changes in early stage retrospectively. Methods: We studied 435 patients with GD and 113 healthy physical examiners retrospectively and followed up these two groups of patients after 6 months. We investigated the correlations between BTMs and other 15 observed factors, and analyzed the predictive value of FT3 and FT4 before and after treatment (FT3-P/FT3-A, FT4-P/FT4-A) on whether BTMs recovered. Results: The levels of thyroid hormones and BTMs in GD group were significantly higher than those in control group (P < 0.05) and decreased after 6 months of treatment. FT3, W, Ca and ALP were independent factors in predicting the elevation of OST. Duration of disease, FT3, TSH and ALP were independent factors in predicting the elevation of P1NP. Age, duration of disease, TRAb and ALP were independent factors in predicting the elevation of CTX-1. The AUC of FT3-P/FT3-A and FT4-P/FT4-A for predicting OST recovery were 0.748 and 0.705 (P < 0.05), respectively, and the cut-off values were 0.51 and 0.595. There was no predictive value for P1NP and CTX-1 recovery (P > 0.05). Conclusion: BTMs were abnormally elevated in GD and were significantly correlated with serum levels of FT3, FT4, TRAb, Ca, and ALP. FT3 decreased more than 51% and FT4 dropped more than 59.5% after 6 months of treatment were independent predictors for the recovery of BTMs in GD.


Assuntos
Biomarcadores , Remodelação Óssea , Doença de Graves , Valor Preditivo dos Testes , Humanos , Masculino , Feminino , Doença de Graves/sangue , Doença de Graves/tratamento farmacológico , Doença de Graves/metabolismo , Adulto , Biomarcadores/sangue , Estudos Retrospectivos , Pessoa de Meia-Idade , Glândula Tireoide/metabolismo , Osso e Ossos/metabolismo , Hormônios Tireóideos/sangue , Estudos de Casos e Controles , Prognóstico , Antitireóideos/uso terapêutico , Tiroxina/sangue , Tri-Iodotironina/sangue , Seguimentos
4.
Sci Rep ; 14(1): 11528, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38773317

RESUMO

As an autoimmune disease, up to 73% of patients with primary biliary cholangitis (PBC) have a combination of extrahepatic autoimmune diseases (EHAIDs); however, the causal relationship between PBC and EHAIDs is unclear. The genome-wide association analyses provided 14 GWAS data for PBC and EHAIDs, and bidirectional, two-sample MR analyses were performed to examine the relationship between PBC and EHAIDs. The analysis using MR provides a strong and meaningful estimation of the bidirectional correlation between PBC and 7 EHAIDs: rheumatoid arthritis, systemic lupus erythematosus, Sjögren's syndrome, systemic sclerosis, autoimmune hypothyroidism, inflammatory bowel disease and ulcerative colitis of its types. In addition, PBC increases the risk of autoimmune thyroid diseases such as autoimmune hyperthyroidism and Graves' disease, as well as multiple sclerosis and psoriasis. Additionally, PBC is identified as a risk factor for Crohn's disease and Celiac disease. Based on genetic evidence, there may be connections between PBC and specific EHAIDs: not all coexisting EHAIDs induce PBC, and vice versa. This underscores the significance of prioritizing PBC in clinical practice. Additionally, if any liver function abnormalities are observed during treatment or with EHAIDs, it is crucial to consider the possibility of comorbid PBC.


Assuntos
Doenças Autoimunes , Estudo de Associação Genômica Ampla , Cirrose Hepática Biliar , Análise da Randomização Mendeliana , Humanos , Cirrose Hepática Biliar/genética , Doenças Autoimunes/genética , Doenças Autoimunes/complicações , Colite Ulcerativa/genética , Colite Ulcerativa/complicações , Artrite Reumatoide/genética , Artrite Reumatoide/complicações , Doenças Inflamatórias Intestinais/genética , Doenças Inflamatórias Intestinais/complicações , Síndrome de Sjogren/genética , Síndrome de Sjogren/complicações , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/complicações , Predisposição Genética para Doença , Doença Celíaca/genética , Doença Celíaca/complicações , Doença de Graves/genética , Fatores de Risco , Doença de Crohn/genética , Doença de Crohn/complicações , Escleroderma Sistêmico/genética , Esclerose Múltipla/genética , Polimorfismo de Nucleotídeo Único , Psoríase/genética , Psoríase/complicações
5.
Lakartidningen ; 1212024 May 21.
Artigo em Sueco | MEDLINE | ID: mdl-38773921

RESUMO

This is the first national guideline in hyperthyroidism to harmonise and update clinical practice according to what is evidence based and direct care from patients' needs. We present 4 articles in Läkartidningen of different views of the guideline, including family care perspectives, patient care perspectives and perspectives on ophthalmology. This article concerns treatment of Graves' disease and includes endocrinological, surgical and oncological perspectives on what is established practice, but also news in the national guideline that remain to be fully implemented in Sweden in the years to come. News are precision medicine using the GREAT score, preoperative calcium/D vitamin treatment, individualized levothyroxine treatment after thyroid surgery, uniformed levothyroxine replacement strategy, access to national patient information and national guidelines on radiation protection and treatment schemes for radioactive iodine. A national guideline is the creation of many persons' views, including patient representatives, and the recommendations have undergone a thorough national review process from stakeholders. It is a guideline with future perspectives for an improved care.


Assuntos
Doença de Graves , Guias de Prática Clínica como Assunto , Medicina de Precisão , Humanos , Doença de Graves/terapia , Suécia , Tiroxina/uso terapêutico , Tiroxina/administração & dosagem , Vitamina D/uso terapêutico , Vitamina D/administração & dosagem , Radioisótopos do Iodo/uso terapêutico , Tireoidectomia
6.
Eur Rev Med Pharmacol Sci ; 28(8): 2988-2995, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38708455

RESUMO

OBJECTIVE: The impact of selenium on autoimmune thyroid disease (AITD) is a subject of ongoing debate. This study aimed to analyze the causal correlations of selenium with autoimmune thyroiditis (AIT), autoimmune hyperthyroidism (AIH), and Graves' disease (GD) by Mendelian randomization (MR). MATERIALS AND METHODS: Single nucleotide polymorphisms related to selenium, AIT, AIH, and GD were sourced from the IEU Open GWAS project and FinnGen. Exposure-outcome causality was assessed using inverse variance weighted, MR-Egger, and weighted median. Horizontal pleiotropy was examined using the MR-Egger intercept, heterogeneity was evaluated with Cochran's Q test, and the robustness of the results was confirmed via leave-one-out sensitivity analysis. RESULTS: The MR analysis revealed that selenium did not exhibit a causal relationship with AIT (OR 0.993, 95% CI 0.786 to 1.108, p=0.432), AIH (OR 1.066, 95% CI 0.976 to 1.164, p=0.154), or GD (OR 1.052, 95% CI 0.984 to 1.126, p=0.138). Moreover, the MR-Egger intercept and Cochran's Q test demonstrated the absence of horizontal pleiotropy or heterogeneity in these results (p>0.05). Sensitivity analysis affirmed the robustness of these results. CONCLUSIONS: This MR analysis concluded that selenium was not linked to AIT, AIH, or GD risk. Therefore, indiscriminate selenium supplementation is not advisable for AITD patients without concurrent selenium deficiency.


Assuntos
Doença de Graves , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo Único , Selênio , Tireoidite Autoimune , Humanos , Selênio/administração & dosagem , Tireoidite Autoimune/genética , Doença de Graves/genética , Estudo de Associação Genômica Ampla
7.
Front Endocrinol (Lausanne) ; 15: 1382124, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38711981

RESUMO

The incidence of concomitant thyroid cancer in Graves' disease varies and Graves' disease can make the diagnosis and management of thyroid nodules more challenging. Since the majority of Graves' disease patients primarily received non-surgical treatment, identifying biomarkers for concomitant thyroid cancer in patients with Graves' disease may facilitate planning the surgery. The aim of this study is to identify the biomarkers for concurrent thyroid cancer in Graves' disease patients and evaluate the impact of being overweight on cancer risk. This retrospective cohort study analyzed 122 patients with Graves' disease who underwent thyroid surgery at Seoul St. Mary's Hospital (Seoul, Korea) from May 2010 to December 2022. Body mass index (BMI), preoperative thyroid function test, and thyroid stimulating hormone receptor antibody (TR-Ab) were measured. Overweight was defined as a BMI of 25 kg/m² or higher according to the World Health Organization (WHO). Most patients (88.5%) underwent total or near-total thyroidectomy. Multivariate analysis revealed that patients who were overweight had a higher risk of malignancy (Odds ratios, 3.108; 95% confidence intervals, 1.196-8.831; p = 0.021). Lower gland weight and lower preoperative TR-Ab were also biomarkers for malignancy in Graves' disease. Overweight patients with Graves' disease had a higher risk of thyroid cancer than non-overweight patients. A comprehensive assessment of overweight patients with Graves' disease is imperative for identifying concomitant thyroid cancer.


Assuntos
Doença de Graves , Sobrepeso , Neoplasias da Glândula Tireoide , Humanos , Doença de Graves/complicações , Doença de Graves/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/epidemiologia , Pessoa de Meia-Idade , Adulto , Sobrepeso/complicações , Tireoidectomia , Índice de Massa Corporal , Biomarcadores/sangue , Biomarcadores Tumorais/sangue , Testes de Função Tireóidea
8.
Invest Ophthalmol Vis Sci ; 65(4): 6, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38564194

RESUMO

Purpose: Antibodies against collagen XIII have previously been identified in patients with active thyroid-associated ophthalmopathy (TAO). Although collagen XIII expression has been described in extraocular muscles and orbital fat, its detailed localization in extraocular and thyroid tissues and the connection to autoimmunity for collagen XIII remain unclear. Our objective was to map the potential targets for these antibodies in the tissues of the orbit and thyroid. Methods: We evaluated the expression of collagen XIII in human patient and mouse orbital and thyroid tissues with immunostainings and RT-qPCR using Col13a1-/- mice as negative controls. COL13A1 expression in Graves' disease and goiter thyroid samples was compared with TGF-ß1 and TNF, and these were also studied in human thyroid epithelial cells and fibroblasts. Results: Collagen XIII expression was found in the neuromuscular and myotendinous junctions of extraocular muscles, blood vessels of orbital connective tissue and fat and the thyroid, and in the thyroid epithelium. Thyroid expression was also seen in germinal centers in Graves' disease and in neoplastic epithelium. The expression of COL13A1 in goiter samples correlated with levels of TGF-B1. Upregulation of COL13A1 was reproduced in thyroid epithelial cells treated with TGF-ß1. Conclusions: We mapped the expression of collagen XIII to various locations in the orbit, demonstrated its expression in the pathologies of the Graves' disease thyroid and confirmed the relationship between collagen XIII and TGF-ß1. Altogether, these data add to our understanding of the targets of anti-collagen XIII autoantibodies in TAO.


Assuntos
Bócio , Doença de Graves , Oftalmopatia de Graves , Humanos , Animais , Camundongos , Oftalmopatia de Graves/genética , Órbita , Fator de Crescimento Transformador beta1 , Colágeno , Anticorpos
9.
J Med Case Rep ; 18(1): 164, 2024 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-38582878

RESUMO

BACKGROUND: Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. CASE PRESENTATION: An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules. CONCLUSION: This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.


Assuntos
Exoftalmia , Doença de Graves , Mixedema , Dermatopatias , Humanos , Masculino , Criança , Doença de Graves/complicações , Doença de Graves/diagnóstico , Mixedema/diagnóstico , Mixedema/etiologia
10.
Front Endocrinol (Lausanne) ; 15: 1368088, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38590826

RESUMO

Background: There is no doubt that both Hashimoto thyroiditis and Graves' disease are autoimmune thyroid diseases (AITDs), but the relationship between anti-nuclear antibody (ANA) and AITDs is poorly studied. The association between thyroid autoantibody levels and ANA positivity was evaluated to assess the role of ANA in AITDs. Methods: We conducted an analysis using data from 1,149,893 patients registered at our hospital and 53,021 patients registered in the National Health and Nutrition Examination Survey databases. We focused on patients with data for thyroid peroxidase antibody (TPOAb)/ANA, TPOAb/immunoglobulin G (IgG), thyroid-stimulating hormone (TSH) receptor antibody (TRAb)/ANA, TRAb/IgG, TSH/ANA, or TSH/IgG. Results: ANA positivity rates were 12.88% and 21.22% in TPOAb/ANA and TSH/ANA patients, respectively. In TPOAb/IgG and TSH/IgG data, high IgG levels (≥15 g/L) were detected in 2.23% and 4.06% of patients, respectively. There were significant differences in ANA positivity rates and high IgG proportions among patients with different TPOAb and TSH levels. TPOAb level was correlated with ANA positivity rate and high IgG proportion, and TSH level was correlated with ANA positivity rate. Regression analysis showed positive correlations between TPOAb levels and ANA positivity risk or high IgG risk, TSH levels and high IgG risk, and elevated TSH and ANA positivity risk. Of patients with TRAb/ANA data, 35.99% were ANA-positive, and 13.93% had TRAb levels ≥1.75IU/L; 18.96% of patients with TRAb/IgG data had high IgG levels, and 16.51% had TRAb levels ≥1.75IU/L. ANA positivity rate and high IgG proportion were not significantly different among different TRAb levels. TRAb levels, ANA positivity risk and high IgG risk were not correlated. Conclusion: ANA positivity and high IgG are related to Hashimoto thyroiditis but not Graves' disease, which implies distinct pathophysiological mechanisms underlying the AITDs.


Assuntos
Doença de Graves , Doença de Hashimoto , Humanos , Inquéritos Nutricionais , Autoanticorpos , Doença de Graves/diagnóstico , Receptores da Tireotropina , Imunoglobulina G , Tireotropina
11.
Medicine (Baltimore) ; 103(15): e37770, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38608089

RESUMO

RATIONALE: Gitelman syndrome (GS), also known as familial hypokalemia and hypomagnesemia, is a rare autosomal recessive inherited disease caused by primary renal desalinization caused by impaired reabsorption of sodium and chloride ions in the distal renal tubules. We report a case of clinical and genetic characteristics of GS accompanied with Graves disease and adrenocorticotrophic hormone (ACTH)-independent adrenocortical adenoma. PATIENT CONCERNS: The patient is a 45 year old female, was admitted to our hospital, due to a left adrenal gland occupying lesion as the chief complaint. DIAGNOSIS: The patient was finally diagnosed as GS with Graves disease and adrenocortical adenoma. INTERVENTIONS: Potassium magnesium aspartate (1788 mg/d, taken orally 3 times a day (supplement a few times a day, intake method, treatment duration). Contains 217.2 mg of potassium and 70.8 mg of magnesium, and potassium chloride (4.5 g/d, taken orally 3 times a day (supplement a few times a day, intake method, and treatment duration); Potassium 2356 mg), spironolactone (20 mg/d, taken orally once a day (supplement a few times a day, intake method, treatment duration). After 3 months of treatment, the patient's blood potassium fluctuated between 3.3-3.6 mmol/L, and blood magnesium fluctuated between 0.5-0.7 mmol/L, indicating a relief of fatigue symptoms. OUTCOMES: On the day 6 of hospitalization, the symptoms of dizziness, limb fatigue, fatigue and pain were completely relieved on patient. In the follow-up of the following year, no recurrence of the condition was found. LESSONS: The novel c.1444-10(IVS11)G > A variation may be a splicing mutation. The compound heterozygous mutations of the SLC12A3 gene may be the pathogenic cause of this GS pedigree.


Assuntos
Adenoma Adrenocortical , Síndrome de Gitelman , Doença de Graves , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Gitelman/complicações , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Magnésio , Doença de Graves/complicações , Doença de Graves/genética , Fadiga , Potássio , Membro 3 da Família 12 de Carreador de Soluto
13.
Turk J Ophthalmol ; 54(2): 69-75, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38645270

RESUMO

Objectives: Forkhead box P3 (FOXP3) gene polymorphisms have been evaluated in many autoimmune diseases, including Graves' disease (GD), in different populations. However, those polymorphisms have not been analyzed in GD or Graves' ophthalmopathy (GO) in the Turkish population. In this study, we aimed to evaluate the frequency of FOXP3 polymorphisms in GD with or without ophthalmopathy in a Turkish population. Materials and Methods: The study included 100 patients with GO, 74 patients with GD without ophthalmopathy, and 100 age- and sex-matched healthy controls. In all study participants, rs3761547 (-3499 A/G), rs3761548 (-3279 C/A), and rs3761549 (-2383 C/T) single nucleotide polymorphisms (SNPs) were detected using the polymerase chain reaction-restriction fragment length polymorphism method. The chi-square test was used to evaluate genotype and allele frequencies. Odds ratios and 95% confidence intervals were calculated for genotype and allele risks. Results: In the patient group (including GD with or without ophthalmopathy), the rs3761548 AC and AA genotype and rs3761549 CT genotype were significantly more frequent than in the control group (all p<0.05). No genotypic and allelic differences were observed for rs3761547 between the patient and control groups (all p>0.05). There was no statistically significant difference between the GO and GD without ophthalmopathy groups concerning the allele and genotype frequencies of all three FOXP3 SNPs (all p>0.05). Conclusion: The AC and AA genotypes of rs3761548 (-3279) and CT genotype of rs3761549 (-2383 C/T) were shown to be possible risk factors for GD development in the Turkish population. However, none of the three SNPs was shown to be associated with the development of GO in patients with GD.


Assuntos
Fatores de Transcrição Forkhead , Genótipo , Doença de Graves , Oftalmopatia de Graves , Polimorfismo de Nucleotídeo Único , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Transcrição Forkhead/genética , Frequência do Gene , Predisposição Genética para Doença , Doença de Graves/genética , Oftalmopatia de Graves/epidemiologia , Oftalmopatia de Graves/genética , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Turquia/epidemiologia
14.
Int J Mol Sci ; 25(7)2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38612837

RESUMO

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are common autoimmune endocrine disorders in children. Studies indicate that apart from environmental factors, genetic background significantly contributes to the development of these diseases. This study aimed to assess the prevalence of selected single-nucleotide polymorphisms (SNPs) of Il7R, CD226, CAPSL, and CLEC16A genes in children with autoimmune thyroid diseases. We analyzed SNPs at the locus rs3194051, rs6897932 of IL7R, rs763361 of CD226, rs1010601 of CAPSL, and rs725613 of CLEC16A gene in 56 HT patients, 124 GD patients, and 156 healthy children. We observed significant differences in alleles IL7R (rs6897932) between HT males and the control group (C > T, p = 0.028) and between all GD patients and healthy children (C > T, p = 0.035) as well as GD females and controls (C > T, p = 0.018). Moreover, the C/T genotype was less frequent in GD patients at rs6897932 locus and in HT males at rs1010601 locus. The presence of the T allele in the IL7R (rs6897932) locus appears to have a protective effect against HT in males and GD in all children. Similarly, the presence of the T allele in the CAPSL locus (rs1010601) seems to reduce the risk of HT development in all patients.


Assuntos
Doenças Autoimunes , Doença de Graves , Doença de Hashimoto , Criança , Feminino , Masculino , Humanos , Adolescente , Prevalência , Alelos , Doença de Hashimoto/genética , Polimorfismo de Nucleotídeo Único , Doença de Graves/genética , Receptores de Interleucina-7/genética , Proteínas de Transporte de Monossacarídeos , Lectinas Tipo C/genética
15.
Front Endocrinol (Lausanne) ; 15: 1310408, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38645425

RESUMO

Adrenocortical carcinoma (ACC) is a rare malignancy originating in the adrenal glands, aldosterone-producing ACC, even rarer. Papillary thyroid carcinoma (PTC), by contrast, accounts for the majority of thyroid carcinomas. We herein describe the first reported case of a female with comorbidities of aldosterone-producing ACC, PTC, and Graves' Disease(GD). The patient achieved transient clinical remission following adrenalectomy. However, three months later, aldosterone-producing ACC lung metastases emerged. Subsequently, within another three-month interval, she developed thyroid eye disease(TED). The patient died roughly one year after the adrenal operation. Exome sequencing did not reveal associations between aldosterone-producing ACC, PTC, and GD, and the underlying concurrence mechanism has yet to be elucidated. Further research of similar cases are needed to confirm potential links between the three pathologies.


Assuntos
Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Aldosterona , Doença de Graves , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Feminino , Câncer Papilífero da Tireoide/metabolismo , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/genética , Carcinoma Adrenocortical/metabolismo , Carcinoma Adrenocortical/patologia , Doença de Graves/metabolismo , Doença de Graves/complicações , Doença de Graves/patologia , Neoplasias da Glândula Tireoide/metabolismo , Neoplasias da Glândula Tireoide/patologia , Neoplasias do Córtex Suprarrenal/metabolismo , Neoplasias do Córtex Suprarrenal/patologia , Neoplasias do Córtex Suprarrenal/complicações , Aldosterona/metabolismo , Pessoa de Meia-Idade , Adrenalectomia , Evolução Fatal
16.
J Pediatr Endocrinol Metab ; 37(5): 445-450, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38644701

RESUMO

OBJECTIVES: The aim of our study is to examine the emotional, behavioral problems, and psychiatric symptoms of children diagnosed with Graves' disease (GD), to assess their quality of life, and to compare with control group. METHODS: The research was planned as a cross-sectional study and included 16 patients with GD (13 female and three male) and 29 healthy children for control group (19 female and 10 male). Sociodemographic form, Pediatric Quality of Life Inventory, Revised Child Anxiety and Depression Scale-Child Version (RCADS-CV), Strengths and Difficulties Questionnaire (SDQ), Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale (T-DSM-IV-S), and Affective Reactivity Index scale were applied to the children and their families. RESULTS: Eighty one percent of GD group (GG) (n=13, mean age 15.1 ± 2.2) and 66 % of control group (CG) (n=19, 14.6 ± 2.2) were girls. No significant difference was found between GG and CG in terms of quality of life, anxiety, and depression scores. GG had higher scores in affective reactivity index, SDQ-P total score, and T-DSM-IV-S total scores (p values 0.039; 0.009; 0.023, respectively). While no significant difference was detected in the T-DSM-IV-S-inattention and hyperactivity scores, significantly higher scores were detected in oppositional defiance and conduct disorder scores (p values 0.172; 0.294; 0.019; 0.027, respectively). CONCLUSIONS: In children with GD, irritability, oppositional defiant, and conduct disorder symptoms have been detected. Children with these mental health symptoms experience behavioral and emotional difficulties in their daily lives. It is important to follow up children with GD for possible comorbid psychiatric disorders.


Assuntos
Doença de Graves , Qualidade de Vida , Humanos , Feminino , Masculino , Adolescente , Doença de Graves/psicologia , Doença de Graves/complicações , Estudos Transversais , Criança , Estudos de Casos e Controles , Depressão/psicologia , Depressão/epidemiologia , Ansiedade/psicologia , Ansiedade/epidemiologia , Inquéritos e Questionários , Seguimentos , Prognóstico , Transtornos Mentais/psicologia , Transtornos Mentais/epidemiologia , Transtornos Mentais/etiologia
17.
J Int Med Res ; 52(4): 3000605241239856, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38656269

RESUMO

Psoriasis is a chronic inflammatory skin disease. It is associated with many autoimmune diseases such as rheumatoid arthritis, Crohn's disease and thyroid diseases. Graves' disease (GD) is a common organ-specific autoimmune disease characterized by diffuse goitre and thyrotoxicosis. Management of psoriasis patients with GD is challenging. This current report presents the case of a 34-year-old female patient with refractory psoriasis with GD who was hospitalized for drug eruption and then experienced new-onset erythema and scaling following treatment with adalimumab and secukinumab. Despite the sequential move to phototherapy, tofacitinib and ustekinumab, the erythema and scaling continued unabated and exacerbated. Finally, switching to guselkumab resulted in the psoriasis lesions significantly improving. These findings suggest that guselkumab might be an effective treatment option for refractory psoriasis combined with GD.


Assuntos
Anticorpos Monoclonais Humanizados , Doença de Graves , Psoríase , Humanos , Psoríase/tratamento farmacológico , Psoríase/complicações , Psoríase/patologia , Feminino , Adulto , Doença de Graves/tratamento farmacológico , Doença de Graves/complicações , Anticorpos Monoclonais Humanizados/uso terapêutico , Resultado do Tratamento
18.
Front Immunol ; 15: 1341749, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38605942

RESUMO

Introduction: Autoimmune thyroid diseases (AITDs) are prevalent disorders, primarily encompassing Graves' disease (GD) and Hashimoto's thyroiditis (HT). Despite their common occurrence, the etiology of AITDs remains elusive. Th9 cells, a new subset of CD4+T cells with immunomodulatory properties, have been linked to the development of various autoimmune diseases. However, research on the role of Th9 cells in AITDs is limited. Methods: We investigated the expression of Th9 cells,their functional cytokine IL-9, and transcription factor IRF4 in peripheral blood mononuclear cells (PBMCs) and plasma of AITD patients and healthy controls. Additionally, we explored the genetic association between four loci polymorphisms (rs31564, rs2069879, rs1859430, and rs2069868) of the IL-9 gene and AITDs. Results: We reported, for the first time, that refractory GD patients exhibited elevated mRNA levels of IL-9 and IRF4 in PBMCs, increased IL-9 protein levels in plasma, and a higher proportion of Th9 cells in peripheral blood when compared to normal controls. Furthermore, human recombinant IL-9 protein was found to enhance IFN-g secretion in PBMCs from both GD patients and normal controls. At the genetic association level, after adjusting for age and sex, the rs2069879 polymorphism exhibited a significant association with AITDs under an additive model (P<0.001, OR= 0.05, 95% CI=0.03-0.08). Discussion: Our results reveal that Th9 cells may exert a pivotal role in the pathogenesis and progression of refractory GD and HT, and IL-9 holds promise as a novel therapeutic target for the management of AITDs.


Assuntos
Doença de Graves , Doença de Hashimoto , Interleucina-9 , Humanos , Predisposição Genética para Doença , Doença de Graves/genética , Interleucina-9/genética , Leucócitos Mononucleares
19.
BMC Endocr Disord ; 24(1): 54, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664774

RESUMO

OBJECTIVES: To assess whether increasing radioactive iodine dose can increase treatment efficacy in Graves' disease. METHODS: A prospective study was conducted, including 106 patients receiving 20 mCi (740 MBq) radioactive iodine (RAI), compared with a retrospective data, including 113 patients receiving 10-15 mCi (370-555 MBq) RAI. Remission and failure rates were evaluated at 6 months post-RAI. Statistical analysis was performed using logistic regression and Kaplan-Meier curves. RESULTS: Patients receiving 20 mCi RAI demonstrated a significantly higher remission rate compared to the 10-15 mCi group (82.1% vs 66.4%, p = 0.009). Median time to remission was shorter in the 20 mCI group (3 vs 4 months, p = 0.002). Hypothyroidism at 6 months was more prevalent in the 20 mCi group (67% vs 53%, p = 0.03). Larger thyroid size (> 60 g) was associated with treatment failure (p = 0.02). CONCLUSIONS: Higher dosage (20 mCi) RAI showed superior efficacy in achieving remission compared to lower dosages (10-15 mCi) in Graves' disease treatment.


Assuntos
Doença de Graves , Radioisótopos do Iodo , Humanos , Doença de Graves/radioterapia , Radioisótopos do Iodo/uso terapêutico , Feminino , Masculino , Estudos Prospectivos , Pessoa de Meia-Idade , Adulto , Estudos Retrospectivos , Seguimentos , Resultado do Tratamento , Idoso , Prognóstico
20.
Malays J Pathol ; 46(1): 109-113, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38682851

RESUMO

INTRODUCTION: Persistently elevated thyroid stimulating hormone (TSH) despite levothyroxine (LT4) treatment that exceeds the standard weight-adjusted dose is a common clinical presentation. This may lead to additional testing for LT4 malabsorption or poor LT4 adherence, the latter of which is challenging to confirm because it is predicated on accurate patient accountability. CASE REPORT: A 35-year-old lady, post-radioactive iodine therapy for Graves' disease remained euthyroid for a year on oral LT4. Two years later, she was clinically and biochemically hypothyroid despite claiming LT4 compliance. As all laboratory investigations were within the reference range, pseudomalabsorption was suspected and a LT4 absorption test was done. During the test, her free thyroxine increased significantly at 4 hours, reaching a peak of more than 50% from baseline while TSH decreased appropriately from 0 minute to 360 minutes. This was followed by normalisation of TSH with LT4 treatment under direct observation. DISCUSSION: The LT4 absorption test is a prompt and economical means to rule out true malabsorption, decrease unwarranted subspecialty referrals and validate the weight-adjusted LT4 dose reduction.


Assuntos
Hipotireoidismo , Tiroxina , Humanos , Adulto , Hipotireoidismo/tratamento farmacológico , Feminino , Tiroxina/uso terapêutico , Doença de Graves/tratamento farmacológico , Tireotropina/sangue
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