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1.
Endokrynol Pol ; 2023 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-37577997

RESUMO

INTRODUCTION: Our aims were to explore the relationship between primary hyperparathyroidism (pHPT) and malignant tumour development, to determine the frequency and the time of occurrence of malignant tumours in patients with pHPT, and to evaluate the characteristics of pHPT in these patients. MATERIAL AND METHODS: This retrospective cohort study included consecutive individuals who were diagnosed with pHPT aged 18 years or older in a university hospital during a 7-year period. A total of 198 patients with pHPT were reviewed retrospectively. Demographic, clinical, biochemical, radiologic findings, and histopathological diagnosis were collected from the electronic medical records of the hospital system. RESULTS: The mean age of the study population was 58 ± 13 years and was predominantly female (female/male: 162/36). There were 42 (21.2%) patients with malignant tumours. Five (12%) out of 42 patients had metachronous double malignancies. The most common 2 concurrent malignancies were breast (36.1%) and thyroid (17.0%). Sixty-eight per cent of the malignant tumours occurred before the diagnosis of pHPT. A higher percentage (87.5%) of simultaneous tumours was seen in the thyroid gland. No statistically significant differences were observed between patients with and without malignant tumours in terms of demographic, clinical, biochemical, radiological, and histopathological features. The median follow-up duration was 24 months after parathyroid surgery. CONCLUSION: The results of this study revealed that pHPT was associated with various tumour types. The frequency of malignant tumours was 21.2%. Breast and thyroid cancers were the most common 2 cancers coexisting with pHPT. A large percentage of malignant tumours occurred before the diagnosis of pHPT. A higher percentage of simultaneous tumours was seen in the thyroid gland. pHPT patients with and without malignant tumours seemed to have similar characteristics.

2.
J Clin Endocrinol Metab ; 108(10): e1013-e1026, 2023 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-37186260

RESUMO

CONTEXT: The aims of the study are to compare characteristics of subacute thyroiditis (SAT) related to different etiologies, and to identify predictors of recurrence of SAT and incident hypothyroidism. METHODS: This nationwide, multicenter, retrospective cohort study included 53 endocrinology centers in Turkey. The study participants were divided into either COVID-19-related SAT (Cov-SAT), SARS-CoV-2 vaccine-related SAT (Vac-SAT), or control SAT (Cont-SAT) groups. RESULTS: Of the 811 patients, 258 (31.8%) were included in the Vac-SAT group, 98 (12.1%) in the Cov-SAT group, and 455 (56.1%) in the Cont-SAT group. No difference was found between the groups with regard to laboratory and imaging findings. SAT etiology was not an independent predictor of recurrence or hypothyroidism. In the entire cohort, steroid therapy requirement and younger age were statistically significant predictors for SAT recurrence. C-reactive protein measured during SAT onset, female sex, absence of antithyroid peroxidase (TPO) positivity, and absence of steroid therapy were statistically significant predictors of incident (early) hypothyroidism, irrespective of SAT etiology. On the other hand, probable predictors of established hypothyroidism differed from that of incident hypothyroidism. CONCLUSION: Since there is no difference in terms of follow-up parameters and outcomes, COVID-19- and SARS-CoV-2 vaccine-related SAT can be treated and followed up like classic SATs. Recurrence was determined by younger age and steroid therapy requirement. Steroid therapy independently predicts incident hypothyroidism that may sometimes be transient in overall SAT and is also associated with a lower risk of established hypothyroidism.


Assuntos
COVID-19 , Hipotireoidismo , Tireoidite Subaguda , Humanos , Feminino , Tireoidite Subaguda/epidemiologia , Tireoidite Subaguda/etiologia , COVID-19/complicações , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Estudos Retrospectivos , SARS-CoV-2 , Hipotireoidismo/etiologia , Hipotireoidismo/complicações , Esteroides
3.
Diabetes Obes Metab ; 25(7): 1950-1963, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36946378

RESUMO

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.


Assuntos
Diabetes Mellitus , Hipertrigliceridemia , Lipodistrofia Generalizada Congênita , Lipodistrofia , Infarto do Miocárdio , Insuficiência Renal Crônica , Feminino , Humanos , Turquia/epidemiologia , Estudos de Coortes , Infarto do Miocárdio/complicações , Insuficiência Renal Crônica/complicações , Estimativa de Kaplan-Meier , Hipertrigliceridemia/complicações
4.
Obes Facts ; 15(4): 528-539, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35545017

RESUMO

INTRODUCTION: The coronavirus disease 2019 (COVID-19) pandemic led to a lockdown period. Confinement periods have been related to unhealthy lifestyle behaviors. Our study aimed to determine weight change, changes in eating and exercise habits, the presence of depression and anxiety, and diabetes mellitus (DM) status in a cohort of patients with obesity. METHODS: The study was undertaken in nine centers of Collaborative Obesity Management (COM) of the European Association for the Study of Obesity (EASO) in Turkey. An e-survey about weight change, eating habits, physical activity status, DM status, depression, and anxiety was completed by patients. The International Physical Activity Questionnaire (IPAQ) score was used to determine physical activity in terms of metabolic equivalents (METs). A healthy nutrition coefficient was calculated from the different categories of food consumption. The Patient Health Questionnaire (PHQ-9) and General Anxiety Disorder (GAD-7) Questionnaire  were used for determining depression and anxiety, respectively. RESULTS: Four hundred twenty-two patients (age 45 ± 12.7 years, W/M = 350/72) were included. The healthy nutrition coefficient before the pandemic was 38.9 ± 6.2 and decreased to 38.1 ± 6.4 during the pandemic (p < 0.001). Two hundred twenty-nine (54.8%) patients gained weight, 54 (12.9%) were weight neutral, and 135 (32.3%) lost weight. Patients in the weight loss group had higher MET scores and higher healthy nutrition coefficients compared with the weight gain and weight-neutral groups (p < 0.001). The PHQ and GAD scores were not different between the groups. Percent weight loss was related to healthy nutrition coefficient (CI: 0.884 [0.821-0.951], p = 0.001) and MET categories (CI: 0.408 [0.222-0.748], p = 0.004). One hundred seventy patients had DM. Considering glycemic control, only 12 (8.4%) had fasting blood glucose <100 mg/dL and 36 (25.2%) had postprandial BG <160 mg/dL. When patients with and without DM were compared in terms of dietary compliance, MET category, weight loss status, PHQ-9 scores, and GAD-7 scores, only MET categories were different; 29 (11.7%) of patients in the nondiabetic group were in the highly active group compared with 5 (2.9%) in the diabetic group. CONCLUSION: The COVID-19 lockdown resulted in weight gain in about half of our patients, which was related to changes in physical activity and eating habits. Patients with DM who had moderate glycemic control were similar to the general population in terms of weight loss but were less active.


Assuntos
COVID-19 , Diabetes Mellitus , Adulto , Ansiedade/epidemiologia , Ansiedade/etiologia , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/etiologia , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Depressão/epidemiologia , Depressão/etiologia , Diabetes Mellitus/epidemiologia , Humanos , Estilo de Vida , Pessoa de Meia-Idade , Obesidade/complicações , Obesidade/epidemiologia , Aumento de Peso , Redução de Peso
5.
Med Ultrason ; 24(2): 242-244, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-33793694

RESUMO

A 53-year-old woman with fatigue lasting for 6 weeks and increased parathormone level underwent a neck ultrasound. It revealed a large, lobulated, solid intrathyroidal nodule consisting of hypoechoic component with microcalcifications and hy-perechoic component with vascularity on Doppler mode. There were also subcentimetric intrathyroidal hypo- and hyperechoic nodules. Upon the diagnosis of papillary thyroid cancer on fine-needle aspiration biopsy, a total thyroidectomy procedure was performed. In the histopathologic evaluation, the hypoechoic component was diagnosed as papillary thyroid cancer, while the hyperechoic component was diagnosed as ectopic parathyroid adenoma. Subcentimetric nodules were demonstrated as multi-foci of papillary thyroid cancer.


Assuntos
Neoplasias das Paratireoides , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Biópsia por Agulha Fina , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/cirurgia , Câncer Papilífero da Tireoide/diagnóstico por imagem , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/cirurgia , Ultrassonografia
6.
PLoS One ; 13(3): e0193388, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29505567

RESUMO

BACKGROUND: Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed. METHODOLOGY: Clinical features and mutation spectrum were investigated in patients with hereditary hypophosphatemia. Genomic DNA of 23 patients from 15 unrelated families were screened sequentially by PCR-sequencing analysis for mutations in the following genes: PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC34A3 and SLC34A1. CytoScan HD Array was used to identify large deletions. RESULTS: Genetic evaluation resulted in the identification of an additional asymptomatic but intermittent hypophosphatemic subject. Mutations were detected in 21 patients and an asymptomatic sibling from 13 families (86.6%, 13/15). PHEX mutations were identified in 20 patients from 12 families. Six of them were novel mutations present in 9 patients: c.983_987dupCTACC, c.1586+2T>G, c.1206delA, c.436+1G>T, c.1217G>T, and g.22,215,887-22,395,767del (179880 bp deletion including exon 16-22 and ZNF645). Six previously reported mutations were found in 11 patients. Among 12 different PHEX mutations, 6 were de novo mutations. Patients with de novo PHEX mutations often had delayed diagnosis and significantly shorter in height than those who had inherited PHEX mutations. Novel compound heterozygous mutations in SLC34A3 were found in one patient and his asymptomatic sister: c.1335+2T>A and c.1639_1652del14. No mutation was detected in two families. CONCLUSIONS: This is the largest familial study on Turkish patients with hereditary hypophosphatemia. PHEX mutations, including various novel and de novo variants, are the most common genetic defect. More attention should be paid to hypophosphatemia by clinicians since some cases remain undiagnosed both during childhood and adulthood.


Assuntos
Raquitismo Hipofosfatêmico Familiar/genética , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Linhagem , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Adulto , Sequência de Bases , Criança , Pré-Escolar , Feminino , Fator de Crescimento de Fibroblastos 23 , Humanos , Masculino , Pessoa de Meia-Idade
7.
Diagn Interv Radiol ; 23(6): 428-434, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29044029

RESUMO

PURPOSE: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION: Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Lipodistrofia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Corporal Total/métodos , Adulto Jovem
9.
Med Princ Pract ; 26(4): 325-330, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28437786

RESUMO

OBJECTIVE: To investigate the effect of insulin pump user retraining on treatment success, quality of life, and metabolic parameters of patients with type 1 diabetes using continuous subcutaneous insulin infusion. SUBJECTS AND METHODS: A total of 35 subjects participated in this prospective study. All patients were given insulin pump user retraining. Their knowledge level and application skills, metabolic parameters, quality of life, and satisfaction from treatment were evaluated at baseline and after 6 months. RESULTS: There was significant improvement in patients' knowledge and application skills after insulin pump user retraining (self-assessment of user skills: 69.7 ± 11.5 vs. 76.3 ± 11.3, p < 0.001; knowledge level on technical issues: 3.3 ± 1.1 vs. 4.1 ± 1.8, p = 0.003; glucose monitoring: 27.1 ± 5.8 vs. 29.2 ± 5.6, p = 0.006; management of hyperglycemia: 13.1 ± 3.2 vs. 15.7 ± 3.4, p < 0.001; management of pump and infusion site problems: 8.8 ± 2.6 vs. 10.6 ± 2.6, p = 0.001). Hemoglobin (Hb)A1c levels of patients with poor glycemic control improved after retraining (8.61% ± 0.78 vs. 8.23% ± 0.79, p = 0.02). However, no significant improvement in quality of life and treatment satisfaction parameters were found. CONCLUSION: Management of type 1 diabetes in insulin pump users can be significantly improved by retraining. Even a basic short-term retraining program helps patients to increase their knowledge level and ability to more effectively use the insulin pump. The fact that retraining significantly improves glycemic parameters in patients with poor metabolic control indicates that priority should be given to this group of patients. Further studies with individualized training programs in larger sample sizes with long-term follow-up are needed to establish the importance of retraining and create re-education plans for patients with type 1 diabetes using an insulin pump.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Sistemas de Infusão de Insulina , Educação de Pacientes como Assunto/métodos , Adulto , Glicemia , Diabetes Mellitus Tipo 1/sangue , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários , Resultado do Tratamento , Turquia , Adulto Jovem
10.
Endocrine ; 56(2): 308-316, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28247312

RESUMO

PURPOSE: Low plasma corticotropin is considered a useful parameter for the diagnosis of subclinical hypercortisolism in patients with an adrenal incidentaloma. However, immunoassays are vulnerable to interference from endogenous antibodies. In this study, subjects who underwent Hypothalamus-pituitary-adrenal axis evaluation for the assessment of subclinical hypercortisolism were evaluated. The objective of the study was to ascertain whether antibody interference in corticotropin immunoassay affected the diagnostic work-up and clinical decisions. METHODS: The 437 consecutive patients with incidentally discovered adrenal adenomas were included in this single centre study. Patients who had a combination of a nonsuppressed corticotropin concentration (>4.4 pmol/L) and a non-suppressed cortisol concentration after 1 mg overnight dexamethasone suppression test (>50 nmol/L) were selected. Eight eligible subjects without specific features of Cushing's syndrome were identified and recruited for interference studies and follow-up. Nine controls including one patient with unilateral adrenalectomy and one patient with Cushing's disease were recruited as well. MEASUREMENTS: Eligible subjects and controls were subjected to hormonal tests and investigations for suspected interference. Interference studies included measurement of corticotropin on a different analytical platform, serial dilutions, polyethylene glycol precipitation and heterophilic antibody analysis. Patients were followed with clinical and laboratory parameters for a median duration of 30 (12-90) months. RESULTS: Antibody interference was identified in four patients. Rheumatoid factor was responsible for the interference in one patient. Clinical management of the patients was affected by the erroneous results. Interference tests were negative in control subjects. CONCLUSIONS: Erroneous results associated with analytical interference negatively impacted on clinical decision making in this patient group. This should be considered particularly in conditions such as subclinical hypercortisolism which decisions depend on laboratory investigations mainly. Analytical interference could explain the high variability observed both in field measurements from patients who were expected to have lower corticotropin concentrations and in subclinical hypercortisolism prevalence reported by different studies. Many problems can be resolved by ensuring good communication between clinical and laboratory staff.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Hormônio Adrenocorticotrópico/sangue , Síndrome de Cushing/diagnóstico , Sistema Hipotálamo-Hipofisário/fisiopatologia , Sistema Hipófise-Suprarrenal/fisiopatologia , Neoplasias das Glândulas Suprarrenais/sangue , Neoplasias das Glândulas Suprarrenais/fisiopatologia , Adulto , Idoso , Síndrome de Cushing/sangue , Síndrome de Cushing/fisiopatologia , Feminino , Humanos , Imunoensaio , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
Metabolism ; 64(9): 1086-95, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26139569

RESUMO

OBJECTIVE: Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes. METHODS: In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Subjects were investigated for metabolic abnormalities. Fat distribution was assessed by whole body MRI. Hepatic steatosis was evaluated by ultrasound, MRI and MR spectroscopy. Patients with diabetes underwent a mix meal stimulated C-peptide/insulin test to investigate pancreatic beta cell functions. Leptin and adiponectin levels were measured. RESULTS: Fifteen individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia, 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Anti-GAD was negative in all APL patients with diabetes. APL patients with diabetes had lower leptin and adiponectin levels compared to patients with type 2 diabetes and healthy controls. However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. The mix meal test suggested that APL patients with diabetes had a significant amount of functional pancreatic beta cells, and their diabetes was apparently associated with insulin resistance. CONCLUSIONS: Our results show that APL is associated with increased risk for developing metabolic abnormalities. We suggest that close long-term follow-up is required to identify and manage metabolic abnormalities in APL.


Assuntos
Lipodistrofia/complicações , Doenças Metabólicas/etiologia , Adiponectina/sangue , Adolescente , Adulto , Idoso , Estudos de Coortes , Complicações do Diabetes/epidemiologia , Complicações do Diabetes/etiologia , Fígado Gorduroso/etiologia , Feminino , Seguimentos , Humanos , Leptina/sangue , Lipodistrofia/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Doenças Metabólicas/epidemiologia , Pessoa de Meia-Idade , Estudos Prospectivos , Sistema de Registros , Risco , Turquia/epidemiologia , Adulto Jovem
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