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OBJECTIVE: The purpose of the study was to analyse the dietary habits identified by diet quality scores (DQS) in the scope of body fatness (BF) and nutritional knowledge (NK) of polycystic ovary syndrome (PCOS) women. DESIGN: Case-control study. The DQS were accessed by Dietary Habits, and Nutrition Beliefs Questionnaire (KomPAN, The Committee of Human Nutrition, Polish Academy of Science) included food frequency consumption of thirty-three food items and was formulated by six diet indexes: Pro-Healthy-Diet-Index (pHDI-10), Non-Healthy-Diet-Index (nHDI-14), High-Glycemic-Diet-Index-7 (hGIDI-7), Low-Glycemic-Diet-Index-4 (lGIDI-4), High-Sugar-Diet-Index-4 (hSDI-4) and High-Saturated-Fats-Diet-Index-8 (hSFDI-8). The BF was analysed by air displacement plethysmography (BodPod, Life Measurement Inc.). NK was assessed by using the twenty-five 'true or false' statements included in the KomPAN questionnaire. SETTING: Poland, Clinical Hospital, Department of Endocrinology, Metabolism, and Internal Diseases. PARTICIPANTS: The study group included 122 PCOS women and 116 age- and socio-economic status-matched healthy controls (CON) aged 17-44 years. RESULTS: Higher BF and lower NK in PCOS women v. controls were observed. PCOS women had a lower pHDI-10 and LGIDI-4 than CON. There was no relation between NK and DQS in PCOS women. The higher NK in the CON group was associated with increased intensity of pHDI-10 and lower frequency of hSFDI-8 levels. CONCLUSIONS: Pro-healthy DQS and NK of PCOS women in this study were lower than CON. Professional dietary education might improve dietary behaviours and understanding of the necessity of dietary habits modification in this group. A multidisciplinary approach is needed in the treatment of PCOS women.
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Síndrome do Ovário Policístico , Índice de Massa Corporal , Estudos de Casos e Controles , Dieta , Comportamento Alimentar , Feminino , Índice Glicêmico , HumanosRESUMO
BACKGROUND: Although differentiated thyroid cancer (DTC) has relatively favorable course, factors predicting the course of the disease are intensively searched. The aim of the study was to identify the clinical factors determining incomplete response to radioiodine therapy in patients with DTC. METHODS: We retrospectively analyzed 385 consecutive patients with DTC treated and followed-up at a single tertiary reference center. We investigated clinical factors detectable during first hospitalization 3-6 months following total thyroidectomy due to DTC, which may serve as prognostic factors determining response to DTC therapy in a long-term follow-up. RESULTS: Stimulated thyroglobulin (sTg) was the only parameter significantly correlated with the cumulative radioiodine activity (r=0.247, P<0.001). The need for repeated radioiodine administration (≥3 doses) was best predictable on the basis of sTg concentration assessed at the moment of qualification to radioiodine therapy (P=0.003). Predictive value of the sTg for incomplete response to radioiodine has been confirmed with the ROC curve analysis and the best proposed cut-off value was 8.17 ng/mL (sensitivity 55%, specificity 77%, positive predictive value 42.1%, negative predictive value 84.7%); sTg over 8.17 ng/mL increases the risk of incomplete response to therapy 2.5-folds (P=0.002). CONCLUSIONS: sTg, assessed at the moment of qualification to radioiodine therapy, as the most important factor determining incomplete response to radioiodine therapy in patients with DTC, should be particularly taken into consideration in predicting the future course of the disease as well as treatment and follow-up planning. Radical thyroidectomy may help to increase the effectiveness of treatment.
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Radioisótopos do Iodo/uso terapêutico , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/radioterapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Falha de Tratamento , Adulto JovemRESUMO
Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Head and neck paragangliomas (HNPGL) can be categorized into carotid body tumors, which are the most common, as well as jugular, tympanic, and vagal paraganglioma. A review of the current literature was conducted to consolidate knowledge concerning PGL mutations, familial occurrence, and the practical application of this information. Available scientific databases were searched using the keywords head and neck paraganglioma and genetics, and 274 articles in PubMed and 1183 in ScienceDirect were found. From these articles, those concerning genetic changes in HNPGLs were selected. The aim of this review is to describe the known genetic changes and their practical applications. We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of PCC and PGL have a predisposing germline mutation (including VHL, SDHB, SDHD, RET, NF1, THEM127, MAX, SDHC, SDHA, SDHAF2, HIF2A, HRAS, KIF1B, PHD2, and FH). Approximately 25-30% of cases are due to somatic mutations, such as RET, VHL, NF1, MAX, and HIF2A. The tumors were divided into three main clusters by the Cancer Genome Atlas (TCGA); namely, the pseudohypoxia group, the Wnt signaling group, and the kinase signaling group. The review also discusses genetic syndromes, epigenetic changes, and new testing technologies such as next-generation sequencing (NGS).
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Neoplasias de Cabeça e Pescoço/genética , Paraganglioma/genética , Predisposição Genética para Doença , Humanos , MutaçãoRESUMO
Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary function. In this report, we follow up genomic screening of CPHD patient cohort that were previously tested for changes in a coding sequences of genes with the use of the whole exome. We aimed to find contribution of rare copy number variations (CNVs). As a result, we identified genomic imbalances in 7 regions among 12 CPHD patients. Five out of seven regions showed copy gains whereas two presented losses of genomic fragment. Three regions with detected gains encompassed known CPHD genes namely LHX4, HESX1, and OTX2. Among new CPHD loci, the most interesting seem to be the region covering SIX3 gene, that is abundantly expressed in developing brain, and together with HESX1 contributes to pituitary organogenesis as it was evidenced before in functional studies. In conclusion, with the use of broadened genomic approach we identified copy number imbalances for 12 CPHD patients. Although further functional studies are required in order to estimate its true impact on expression pattern during pituitary organogenesis and CPHD etiology.
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Variações do Número de Cópias de DNA/genética , Hipopituitarismo/genética , Criança , Feminino , Rearranjo Gênico/genética , Genoma Humano , Humanos , MasculinoRESUMO
OBJECTIVE: The aim of the study was to compare the structure and function of the thyroid in patients with bipolar disorder (BD) receiving long-term lithium treatment, with BD patients never receiving lithium. METHODS: Ninety-eight patients (68 female and 30 male), aged 62 ± 13 years, receiving lithium for 3-47 years (mean 19 ± 10 years), and 39 patients (27 female and 12 male), aged 57 ± 10 years, receiving other mood-stabilizing drugs but never treated with lithium, were included. The thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4) were estimated, and the ultrasonographic study of the thyroid gland was performed. RESULTS: Compared with patients not receiving lithium, lithium-treated patients had significantly higher concentrations of TSH and fT4 and the lower concentration of fT3. However, the percentage of hypothyroidism was not different in both groups. Lithium-treated patients also had significantly higher thyroid volume, the higher number of focal changes >1 cm, and more frequent goiter. The structural changes were not related to the hormones' concentrations. CONCLUSIONS: The results show a significant association between long-term lithium treatment and the increase of TSH and fT4, the decrease of fT3, higher thyroid volume, and more frequent goiter and nodular goiter. The effect of lithium on thyroid structure was not associated with its effect on thyroid hormones.
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Transtorno Bipolar/tratamento farmacológico , Compostos de Lítio/efeitos adversos , Glândula Tireoide/efeitos dos fármacos , Adulto , Idoso , Transtorno Bipolar/patologia , Transtorno Bipolar/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Glândula Tireoide/patologia , Glândula Tireoide/fisiopatologia , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangueRESUMO
INTRODUCTION: The studies on the effect of lithium treatment on antithyroid antibodies showed either a higher concentration of these antibodies in patients receiving lithium compared to those lithium-naive or no difference between these groups. In lithium-treated bipolar patients, some researchers pointed to an association between antithyroid antibodies and other features of thyroid dysfunction such as hypothyroidism and decrease of glomerular filtration rate. METHODS: We compared antithyroid antibodies in 98 patients (30 male, 68 female) with bipolar disorder, aged 62±13 years, who received lithium for 19±10 years to 39 patients (12 male, 27 female), aged 57±10 years, who were never treated with lithium. The antibodies against thyroid peroxidase (TPOAb), against thyroglobulin (TGAb), and thyroid-stimulating hormone (TSH) receptors (TSHRAb) were estimated. RESULTS: No difference in the percentages of antibodies occurrence was found between groups, although the concentrations of TGAb were higher in patients receiving lithium. In lithium-treated patients, the presence of TPOAb was associated with lower concentrations of free triiodothyronine and the presence of TGAb, with higher concentrations of TSH. In females, the levels of TGAb were associated with lower thyroid volume. The concentrations of TPOAb correlated positively with the duration of lithium therapy in males, and those of TPOAb and TGAb negatively, with such duration, in female patients. CONCLUSION: The results obtained showed no significant connection between long-term lithium treatment and antithyroid antibodies. In bipolar patients receiving lithium longitudinally, antithyroid antibodies can be associated with some indexes of thyroid function. However, they behave differently in male and female patients.
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Transtorno Bipolar/imunologia , Iodeto Peroxidase/imunologia , Compostos de Lítio/administração & dosagem , Compostos de Lítio/uso terapêutico , Receptores da Tireotropina/imunologia , Tireoglobulina/imunologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Autoanticorpos/sangue , Transtorno Bipolar/sangue , Transtorno Bipolar/tratamento farmacológico , Feminino , Humanos , Compostos de Lítio/efeitos adversos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Fatores de Tempo , Adulto JovemRESUMO
We aimed to identify differences in mutational status between follicular thyroid adenoma (FTA) and follicular thyroid cancer (FTC). The study included 35 patients with FTA and 35 with FTC. DNA was extracted from formalin-fixed paraffin-embedded (FFPE) samples from thyroidectomy. Next-generation sequencing (NGS) was performed with the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2. Potentially pathogenic mutations were found in 14 (40%) FTA and 24 (69%) FTC patients (OR (95%CI) = 3.27 (1.22-8.75)). The number of mutations was higher in patients with FTC than FTA (p-value = 0.03). SMAD4 and STK11 mutations were present only in patients with FTA, while defects in FBXW7, JAK3, KIT, NRAS, PIK3CA, SMARCB1, and TP53 were detected exclusively in FTC patients. TP53 mutations increased the risk of FTC; OR (95%CI) = 29.24 (1.64-522.00); p-value = 0.001. FLT3-positivity was higher in FTC than in the FTA group (51.4% vs. 28.6%; p-value = 0.051). The presence of FLT3 and TP53 with no RET mutations increased FTC detectability by 17.1%, whereas the absence of FLT3 and TP53 with a presence of RET mutations increased FTA detectability by 5.7%. TP53 and FLT3 are candidate markers for detecting malignancy in follicular lesions. The best model to predict FTA and FTC may consist of FLT3, TP53, and RET mutations considered together.
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Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/genética , Biomarcadores Tumorais , Mutação , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Diagnóstico Diferencial , Feminino , Perfilação da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Razão de ChancesRESUMO
In recent years, thyroid malignances have become more prevalent, especially among women. The most common sporadic types of thyroid tumors of follicular origin include papillary, follicular and anaplastic thyroid carcinomas. Although modern diagnosis methods enable the identification of tumors of small diameter, tumor subtype differentiation, which is imperative for the correct choice of treatment, is still troublesome. This review discusses the recent advances in the field of molecular marker identification via next-generation sequencing and microarrays. The potential use of these biomarkers to distinguish among the most commonly occurring sporadic thyroid cancers is presented and compared. Geographical heterogeneity might be a differentiator, although not necessarily a limiting factor, in biomarker selection. The available data advocate for a subset of mutations common for the three subtypes as well as mutations that are unique for a particular tumor subtype. Tumor heterogeneity, a known issue occurring within solid malignancies, is also discussed where applicable. Public databases with datasets derived from high-throughput experiments are a valuable source of information that aid biomarker research in general, including the identification of molecular hallmarks of thyroid cancer.
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Biomarcadores Tumorais/genética , Genômica/métodos , Mutação , Neoplasias da Glândula Tireoide/diagnóstico , Diagnóstico Diferencial , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Análise de Sequência de DNA , Neoplasias da Glândula Tireoide/genéticaRESUMO
We aimed to analyze the potential influence of thyroid autoimmunity on visfatin/NAMPT serum concentration and its leukocyte expression in hyperthyroid patients. This is a single-center, cross-sectional study with consecutive enrollment. All patients with newly diagnosed overt hyperthyroidism in a course of Graves' disease or toxic nodular goiter were included in the study. They underwent physical examination, laboratory investigation, body composition analysis, and thyroid ultrasound. NAMPT mRNA leukocyte expressions were measured using RT-qPCR. Of the 173 patients, 95 were enrolled in further analysis [67 patients with Graves' disease (GD) and 28 with toxic nodular goiter (TNG)]. Control group consisted of 43 healthy volunteers adjusted for age, sex, and BMI. Higher NAMPT/visfatin serum concentration was found in patients with GD comparing with patients with TNG (p=0.03855). We found significant NAMPT leukocyte overexpression in GD patients (n=32) as compared to TNG patients (n=18) and euthyroid controls (n=24) (p=0.005965). Simple linear regression analysis revealed that NAMPT/visfatin serum concentration was significantly associated with NAMPT leukocyte expression, thyroid autoimmunity, age, HOMA-IR, and fat mass percentage (FM%). NAMPT leukocyte expression was related to thyroid autoimmunity, age, and TRAb levels. The stepwise multiple regression analysis revealed FM% and HOMA-IR as independent predictors of visfatin/NAMPT serum levels. In a separate stepwise multiple regression analysis, we confirmed the association between NAMPT leukocyte expression and TRAb levels. We found that fat mass percentage together with HOMA-IR are the most significant predictors of visfatin/NAMPT serum elevation in hyperthyroid patients.
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Citocinas/biossíntese , Regulação da Expressão Gênica , Bócio Nodular/sangue , Doença de Graves/sangue , Leucócitos/metabolismo , Nicotinamida Fosforribosiltransferase/biossíntese , RNA Mensageiro/biossíntese , Adulto , Estudos Transversais , Feminino , Bócio Nodular/patologia , Doença de Graves/patologia , Humanos , Leucócitos/patologia , Masculino , Pessoa de Meia-IdadeRESUMO
Diabetes insipidus is a disorder resulting from insufficient action of vasopressin (ADH) characterized by excretion of highly diluted urine in large amounts. Idiopathic diabetes insipidus is associated with the presence of both autoantibodies against ADH-secreting neurons and pituitary autoantibodies. The aim of the present study was to evaluate the occurrence of autoantibodies against the pituitary microsomal fraction. The study included 33 sera of diabetes insipidus patients and 10 control sera obtained from 10 healthy persons. In all patients the secretion of pituitary hormones and thyroid autoantibodies was assessed. Human pituitaries were obtained during autopsy and homogenized in 0.01 mol/l pH 7.4 phosphate buffer. In addition, for the autoantibody evaluation, the electrophoretic method of separation in polyacrylamide gel and western blot were employed. Among the 33 subjects, in 23 patients the presence of autoantibodies against the pituitary was shown. Sera of 15 patients reacted with the pituitary microsomal fraction protein of 55 kDa. In other cases, 10 sera reacted with the pituitary antigen of 67 kDa. In addition, 5 sera reacted with the 60 kDa antigen, 5 sera with 52 kDa protein, 3 sera with 105 kDa protein, 3 sera with the 97 kDa antigen and 2 sera with pituitary antigen of 92 kDa weight. In our study, based on the immunoblotting method, we observed that pituitary autoantibodies against 55, 60 and 67 kDa antigens occurred frequently.
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BACKGROUND: Differentiated thyroid carcinoma (DTC) originates from thyroid follicular epithelial cells and belongs to a group of slowly progressing tumors with a relatively good prognosis. However, recurrences and metastases are a serious problem in advanced stages. Furthermore, progression from a well differentiated thyroid carcinoma to an aggressive anaplastic one is possible. The majority of differentiated thyroid carcinomas are sporadic but a few alleles increasing the cancer risk are known. One of them is the c.470 T > C (p.I157T, rs17879961) missense substitution in the CHEK2 gene. AIM OF THE STUDY: The aim of this study was to investigate whether this specific CHEK2 alteration, c.470 T > C, predisposes the Great Poland (Wielkopolska) population to thyroid cancer. METHODS: 602 differentiated thyroid carcinoma patients and 829 controls randomly selected from population were genotyped for the presence of the c.470C allele using pyrosequencing. Hardy-Weinberg Equilibrium (HWE) was tested for both groups by chi-square distribution and Fisher's exact test. The odds ratios (ORs), 95% confidence intervals (CIs), and p-values were calculated using the R software. RESULTS: The results of genotyping showed the presence of the c.470C allele in 51 patients with a frequency of 4.49%, while in a controls in 42 patients with a frequency of 2.53%. We demonstrated that in the Great Poland population the c.470C CHEK2 variant increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004). The risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019). CONCLUSIONS: Identification of c.470C CHEK2 gene variant ought to be taken into account by healthcare policymakers. Future well-designed and larger population studies are of great value in confirming these findings. Moreover, a combination of genetic factors together with environmental exposures should also be considered.
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Neuroendocrine tumours may be associated with familial syndromes. At least eight inherited syndromes predisposing to endocrine neoplasia have been identified. Two of these are considered to be major factors predisposing to benign and malignant endocrine tumours, designated multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2). Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, hyperparathyroidism-jaw tumour syndrome, Von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1) and tuberous sclerosis. The molecular and cellular interactions underlying the development of most endocrine cells and related organs represent one of the more complex pathways not yet to be deciphered. Almost all endocrine cells are derived from the endoderm and neuroectoderm. It is suggested that within the first few weeks of human development there are complex interactions between, firstly, the major genes involved in the initiation of progenitor-cell differentiation, secondly, factors secreted by the surrounding mesenchyme, and thirdly, a series of genes controlling cell differentiation, proliferation and migration. Together these represent a formula for the harmonious development of endocrine glands and tissue.
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INTRODUCTION: Pituitary autoantibodies can be determined both in patients with pituitary disease as well as patients with autoimmune endocrine diseases. The purpose of the study was to isolate and purify pituitary autoantigen using sera of patients and the microsomal fraction of the pituitary. MATERIAL AND METHODS: To isolate a pituitary autoantigen, patient sera were used, which showed a strong immune response to pituitary antigens. Pituitary microsomal fractions were prepared from pituitary tissue homogenates. In the study, sera of patients with pituitary disease, Addison and Graves' disease were used. The initial stages were carried out by affinity chromatography on CN -Br sepharose column whereas purification was continued by column liquid chromatography on AcA54 Ultrogel. Chromatofocusing was performed by Polybuffer exchanger PBE 94. RESULTS: (125)I-labeled pituitary antigens after isolation appeared in column chromatography in three peaks. The first peak contained 50-70 kDa proteins, the second peak - 17 to 22 kDa proteins and the third peak contains (125)-iodides. Three fractions obtained from filtration on Ultrogel were separated in a polyacrylamide gel. In the first peak two bands 67 and 55 kDa appeared. The second peak contained low molecular weight substances, and the third peak contained (125)I. The first peak from Ultrogel was isolated by chromatofocusing - the first peak with pH 5.9 and the second one with pH 4.9. CONCLUSIONS: Isolation and purification of pituitary autoantigen with the use of column liquid chromatography and chromatofocusing resulted in obtainment of two antigenic proteins of specific gravity of 67 and 55 kDa.
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Introduction: Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly implicated in nIHH pathogenesis. The study aimed to investigate the genetic background of nIHH and further expand the genotype-phenotype correlation. Methods: A total of 67 patients with nIHH were enrolled in the study. NGS technology and a 38-gene panel were applied. Results: Causative defects regarded as at least one pathogenic/likely pathogenic (P/LP) variant were found in 23 patients (34%). For another 30 individuals, variants of unknown significance (VUS) or benign (B) were evidenced (45%). The most frequently mutated genes presenting P/LP alterations were GNRHR (n = 5), TACR3 (n = 3), and CHD7, FGFR1, NSMF, BMP4, and NROB1 (n = 2 each). Monogenic variants with solid clinical significance (P/LP) were observed in 15% of subjects, whereas oligogenic defects were detected in 19% of patients. Regarding recurrence, 17 novel pathogenic variants affecting 10 genes were identified for 17 patients. The most recurrent pathogenic change was GNRHR:p.Arg139His, detected in four unrelated subjects. Another interesting observation is that P/LP defects were found more often in genes related to hypothalamic-pituitary pathways than those related to GnRH. Conclusions: The growing importance of the neuroendocrine pathway and related genes is drawing increasing attention to nIHH. However, the underestimated potential of VUS variants in IHH etiology, particularly those presenting recurrence, should be further elucidated.
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Hormônio Liberador de Gonadotropina , Hipogonadismo , Humanos , Hormônio Liberador de Gonadotropina/genética , Masculino , Feminino , Hipogonadismo/genética , Adulto , Adulto Jovem , Adolescente , Transdução de Sinais/genética , Sistema Hipotálamo-Hipofisário/metabolismo , Mutação , Pessoa de Meia-Idade , Receptores LHRH/genética , Estudos de Associação Genética , CriançaRESUMO
INTRODUCTION: Genome sequencing technologies reveal molecular mechanisms of differentiated thyroid cancer (DTC). Unlike somatic mutation analysis from thyroidectomy samples, germline mutations showing genetic susceptibility to DTC are less understood. OBJECTIVES: The study aimed to assess the prevalence of germline mutations predisposing to DTC in a cohort of Polish individuals based on their whole genome sequencing data. PATIENTS AND METHODS: We analyzed sequencing data from 1076 unrelated individuals totaling over 1018 billion read pairs and yielding an average 35.26 × read depth per genome, released openly for academic and clinical research as the Thousand Polish Genomes database (https://1000polishgenomes.com). The list of genes chosen for further analysis was based on the review of previous studies. RESULTS: The cohort contained 104 variants located within the coding and noncoding DNA sequences of 90 genes selected by ClinVar classification as pathogenic and potentially pathogenic. The frequency of variants in the Polish cohort was compared with the frequency estimated for the nonFinnish European population obtained from the gnomAD database (gnomad.broadinstitute.org). Significant differences in variant frequency were found for the APC, ARSB, ATM, BRCA1, CHEK2, DICER1, GPD1L, INSR, KCNJ10, MYH9, PALB2, PLCB1, PLEKHG5, PTEN, RET, SEC23B, SERPINA1, SLC26A4, SMAD3, STK11, TERT, TOE1, and WRN genes. CONCLUSIONS: Even though the Polish population is genetically similar to the other European populations, there are significant differences in variant frequencies contributing to the disease development and progression, such as those in the RET, CHEK2, BRCA1, SLC26A4, or TERT genes. Further studies are needed to identify genomic variants associated directly with DTC.
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Adenocarcinoma , Neoplasias da Glândula Tireoide , Humanos , Polônia , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Ribonuclease III/genética , RNA Helicases DEAD-box/genética , Proteínas Nucleares/genéticaRESUMO
SAGIT is an instrument created for the clinical assessment of acromegaly. Our objective was to test the usefulness of this tool in assessing disease activity of acromegalic patients in a single centre of Poznan, Poland using a retrospective study. Medical records of patients with acromegaly hospitalised at the Department of Endocrinology, Metabolism and Internal Medicine of Poznan University of Medical Sciences in Poland between January 2015 and December 2020 were analysed. SAGIT scores were assessed according to each patient's clinical and biochemical data. The results show that SAGIT scores were higher in treatment-naïve patients and the lowest in controlled patients. There were positive correlations between SAGIT scores and concentrations of calcium, phosphorus, HbA1C levels, and tumour invasiveness at the time of diagnosis. However, parameters such as age, vitamin D concentration, and time from diagnosis showed an inverse relationship with the SAGIT score. In ROC curve analysis, SAGIT scores of 5 or less discriminated controlled patients from uncontrolled (p < 0.0001, sensitivity 76.7%, specificity 78.5%, AUC 0.867). Also, SAGIT higher than 6 indicated for treatment start or escalation (p < 0.0001, sensitivity 80.88%, specificity 77.59%, AUC 0.866). Lack of signs and symptoms (S = 0) could not discriminate between controlled and uncontrolled disease, but predicted therapy maintenance (p < 0.0004, sensitivity 59.5%, specificity 58.2%, AUC 0.604). In conclusion, The SAGIT instrument is easy to use even when completed in the retrospective medical record review. It can be useful for distinguishing clinical stages of acromegaly and in decision-making.
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Acromegalia , Humanos , Acromegalia/diagnóstico , Acromegalia/metabolismo , Estudos Retrospectivos , PolôniaRESUMO
Women with polycystic ovary syndrome (PCOS) are at high cardiometabolic risk. The atherogenic index of plasma (AIP) strongly predicts atherosclerosis. Some studies suggest that probiotic intake may lower AIP. This study analysed the relationship between the frequency of dietary intake of low glycaemic index (prebiotic) and probiotic foods and atherosclerosis risk in women with PCOS. METHODS: A total of 127 women were divided into two groups: AIP over 0.11 (highAIP) and AIP ≤ 0.11 (lowAIP). The KomPAN® questionnaire was used to measure food frequency intake; pro-healthy, non-healthy, low glycaemic and probiotic dietary indexes were calculated based on daily food consumption. Body composition was measured by air displacement plethysmography (BodPod). AIP was calculated as a logarithm of triglycerides and high-density lipoproteins from plasma. RESULTS: The highAIP group was 63% less likely to consume low glycaemic index foods three or more times a day than the lowAIP group. The HighAIP group was also 62% less likely to consume buckwheat, oats, whole-grain pasta or coarse-ground grains at least a few times a week. Pro-healthy foods tended to be less frequently consumed by the highAIP group, when adjusted for BMI and age. CONCLUSION: Women with PCOS at high risk of atherosclerosis consumed less low glycaemic index foods than women with a low risk of atherosclerosis. Intake of high-fibre, low glycaemic index foods could prevent atherosclerosis in women with PCOS; however, the effect of probiotic food intake remains unclear.
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Acromegaly is a chronic disease caused by the hypersecretion of growth hormone (GH), leading to changes in the growth of visceral tissues and glucose impairment. Serum biomarkers that correlate with disease status are still unclear. This study aims to assess the potential of phosphorus and calcium as biomarkers in the clinical evaluation of patients with acromegaly and clarify their relationship with SAGIT and other common biomarkers. We retrospectively analyzed data from 306 medical records of patients with acromegaly hospitalized between 2015 and 2020. Factors such as patient biometrics, duration of disease, SAGIT score, tumor size, GH, insulin-like growth factor 1 (IGF-1), calcium, phosphorus, parathormone, and vitamin D were analyzed concerning current disease status (naïve, non-remission, remission). The results showed that serum phosphorus significantly correlated with IGF-1 and SAGIT scores for patients with active acromegaly. Specifically, the best predictor for the remission of acromegaly was a phosphorus level < 3.98 mg/dL and serum calcium levels < 9.88 mg/dL. Based on logistic regression, the higher the serum phosphorus level, the lower the odds of achieving remission (an increase in one unit leads to a decrease in the chance of about 80%). In conclusion, phosphorus and calcium can be effective biochemical markers for predicting disease status in acromegaly.
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Pre- and postsurgical differentiation between follicular thyroid adenoma (FTA) and follicular thyroid cancer (FTC) represents a significant diagnostic challenge. Furthermore, it remains unclear whether they share a common or distinct background and what the mechanisms underlying follicular thyroid lesions malignancy are. The study aimed to compare FTA and FTC by the comprehensive microarray and to identify recurrent regions of loss of heterozygosity (LOH). We analyzed formalin-fixed paraffin-embedded (FFPE) samples acquired from 32 Caucasian patients diagnosed with FTA (16) and FTC (16). We used the OncoScan™ microarray assay (Affymetrix, USA), using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP). The total number of LOH was higher in FTC compared with FTA (18 vs. 15). The most common LOH present in 21 cases, in both FTA (10 cases) and FTC (11 cases), was 16p12.1, which encompasses many cancer-related genes, such as TP53, and was followed by 3p21.31. The only LOH present exclusively in FTA patients (56% vs. 0%) was 11p11.2-p11.12. The alteration which tended to be detected more often in FTC (6 vs. 1 in FTA) was 12q24.11-q24.13 overlapping FOXN4, MYL2, PTPN11 genes. FTA and FTC may share a common genetic background, even though differentiating rearrangements may also be detected.
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BACKGROUND: Insulin resistance (IR) is common in women with polycystic ovary syndrome (PCOS). Metabolic syndrome (MS) involves IR, arterial hypertension, dyslipidemia, and visceral fat accumulation. Therefore, fatness indices and blood lipid ratios can be considered as screening markers for MS. Our study aimed to evaluate the predictive potential of selected indirect metabolic risk parameters to identify MS in PCOS. METHODS: This cross-sectional study involved 596 women aged 18-40 years, including 404 PCOS patients diagnosed according to the Rotterdam criteria and 192 eumenorrheic controls (CON). Anthropometric and blood pressure measurements were taken, and blood samples were collected to assess glucose metabolism, lipid parameters, and selected hormone levels. Body mass index (BMI), waist-to-height ratio (WHtR), homeostasis model assessment for insulin resistance index (HOMA-IR), visceral adiposity index (VAI), lipid accumulation product (LAP), non-high-density lipoprotein cholesterol (non-HDL-C), and triglycerides-to-HDL cholesterol ratio (TG/HDL-C) were calculated. MS was assessed using the International Diabetes Federation (IDF) and the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI) criteria. RESULTS: MS prevalence was significantly higher in PCOS versus CON. Patients with both MS and PCOS had more unfavorable anthropometric, hormonal, and metabolic profiles versus those with neither MS nor PCOS and versus CON with MS. LAP, TG/HDL-C, VAI, and WHtR were the best markers and strongest indicators of MS in PCOS, and their cut-off values could be useful for early MS detection. MS risk in PCOS increased with elevated levels of these markers and was the highest when TG/HDL-C was used. CONCLUSIONS: LAP, TG/HDL-C, VAI, and WHtR are representative markers for MS assessment in PCOS. Their predictive power makes them excellent screening tools for internists and enables acquiring accurate diagnoses using fewer MS markers.