Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 49
Filtrar
1.
Duodecim ; 133(9): 881-5, 2017.
Artigo em Finlandês | MEDLINE | ID: mdl-29240322

RESUMO

We describe the first Finnish case of hepatitis C associated osteosclerosis. In which the patient's bone symptoms and bone density were resolved with hepatitis C treatment. Suspecting the possibility of osteosclerosis underlying bone pains in a hepatitis C patient is well-founded, although osteoporotic fractures are a more common problem.


Assuntos
Antivirais/uso terapêutico , Hepatite C/complicações , Hepatite C/tratamento farmacológico , Osteosclerose/tratamento farmacológico , Osteosclerose/etiologia , Densidade Óssea , Finlândia , Humanos , Masculino , Osteosclerose/diagnóstico por imagem
2.
Duodecim ; 131(12): 1145-52, 2015.
Artigo em Finlandês | MEDLINE | ID: mdl-26245044

RESUMO

Disorders of water balance are manifested as hyponatremia, polyuria or hypernatremia. While a diagnostic scheme is useful in the exploration of hyponatremia, the urgency of restoration of hyponatremia is essential in the treatment. Regardless of the therapeutic method, strong diuresis is predictive of too rapid restoration of hyponatremia. There are many causes for an increased need to pass urine. Polyuria is in question if the volume of urine collected over a 24-hour period has increased. After excluding diabetes and other common causes of polyuria, the osmolality of the first urine voided in the morning reflects the ability of the kidneys to concentrate urine. A water deprivation test is helpful in the differential diagnosis of the causes of polyuria.


Assuntos
Hipernatremia/diagnóstico , Hiponatremia/diagnóstico , Poliúria/diagnóstico , Diagnóstico Diferencial , Humanos , Hipernatremia/fisiopatologia , Hiponatremia/fisiopatologia , Poliúria/fisiopatologia , Fatores de Risco
3.
BMC Health Serv Res ; 14: 26, 2014 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-24444378

RESUMO

BACKGROUND: In Finland diabetologists have long been concerned about the level of diabetes care as the incidence of type 1 diabetes and complicated type 2 diabetes is exceeding the capacity of specialist clinics. We compared the outcome of diabetes care in two middle-sized Finnish municipalities with different models of diabetes care organisation in public primary health care. In Kouvola the primary health care of all diabetic patients is based on general practitioners, whereas in Nurmijärvi the follow-up of type 1 and most complicated type 2 diabetic patients is assigned to a general practitioner specialised in diabetes care. METHODS: Our study population consisted of all adult diabetic patients living in the municipalities under review.We compared the use and costs of public diabetes care, glycemic control, blood pressure, LDL-cholesterol level, the application of the national guidelines and patient satisfaction. The main outcome measures were the costs and use of health care services due to diabetes and its complications. RESULTS: In Nurmijärvi, where diabetes care was centralised, more type 1 diabetic patients were followed up in primary health care than in Kouvola, where general practitioners need more specialist consultations. The centralisation resulted in cost savings in the diabetes care of type 1 diabetic patients. Although the quality of care was similar, type 1 diabetic patients were more satisfied with their follow-up in the centralised system. In the care of type 2 diabetic patients the centralised system required fewer specialist consultations, but the quality and costs were similar in both models. CONCLUSIONS: The follow-up of most diabetic patients - including type 1 diabetes - can be organised in primary health care with the same quality as in secondary care units. The centralised primary care of type 1 diabetes is less costly and requires fewer specialist consultations.


Assuntos
Diabetes Mellitus/terapia , Atenção Primária à Saúde/organização & administração , Qualidade da Assistência à Saúde , Adolescente , Adulto , Idoso , Atenção à Saúde/economia , Atenção à Saúde/estatística & dados numéricos , Complicações do Diabetes/epidemiologia , Complicações do Diabetes/prevenção & controle , Diabetes Mellitus/economia , Diabetes Mellitus Tipo 1/economia , Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 2/economia , Diabetes Mellitus Tipo 2/terapia , Finlândia/epidemiologia , Custos de Cuidados de Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Humanos , Pessoa de Meia-Idade , Modelos Organizacionais , Atenção Primária à Saúde/economia , Atenção Primária à Saúde/normas , Atenção Primária à Saúde/estatística & dados numéricos , Adulto Jovem
4.
Duodecim ; 129(15): 1590-7, 2013.
Artigo em Finlandês | MEDLINE | ID: mdl-24163978

RESUMO

The study group consisted of 96 patients who had used a medication for type 2 diabetes; of them, 33 had undergone gastric sleeve surgery and 63 bypass surgery. Both surgical methods resulted in a similar weight loss among the patients. In follow-up 39 out of 88 patients were able to manage without antidiabetic drugs two years after surgery. The costs of antidiabetic drugs two years after surgery were 79% lower than before the operation. Weight reduction surgery decreases the need for antidiabetic drugs. The greatest cost-efficiency is achieved by targeting weight-loss operations to patients using insulin therapy.


Assuntos
Diabetes Mellitus Tipo 2/cirurgia , Gastrectomia/métodos , Derivação Gástrica/métodos , Hipoglicemiantes/economia , Hipoglicemiantes/uso terapêutico , Adulto , Idoso , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Obesidade/cirurgia , Fatores de Risco , Resultado do Tratamento , Redução de Peso
5.
Scand J Prim Health Care ; 29(3): 165-70, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21675825

RESUMO

OBJECTIVE: To study one-year incidence and risk factors of severe hypoglycaemias (SH) in adult drug-treated diabetic patients living in two Finnish communities. DESIGN: The episodes of SH and their risk factors were identified from local ambulance registers, from the databases of local health care units, and from patient questionnaires. SETTING: The target population consisted of all drug-treated diabetic patients from the two middle-sized communities in southern Finland, altogether 1776 patients. The study was retrospective. SUBJECTS: A total of 1469 patients (82.7% of the target population) gave informed consent for the use of their medical records and 1325 patients (74.6% of the target population) returned the detailed 36-item questionnaire. RESULTS: Of type 1 and type 2 insulin-treated diabetic patients, 14.6% and 1.0%, respectively, needed ambulance or emergency room care (incidence of 30.5 and 3.0 per 100 patient years). However, 31.0% of type 1 and 12.3% of type 2 diabetic patients reported at least one episode of SH (incidence of 72.0 and 27.0 per 100 patient years). Of all insulin-treated patients, 53 (7.8%) reported three or more episodes of SH. Significant independent risk factors for SH were depression, daily exercise, and nephropathy but not glycaemic control. CONCLUSION: The incidence of SH was high in both types of insulin-treated diabetic patients. However, the recurrent episodes of SH were clustered in a small minority of insulin-treated patients with diabetes. The risk of SH should be considered when assessing the treatment target for an individual diabetic patient.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemia/etiologia , Adulto , Idoso , Estudos de Coortes , Emergências , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/terapia , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/efeitos adversos , Insulina/administração & dosagem , Insulina/efeitos adversos , Coma Insulínico/diagnóstico , Coma Insulínico/etiologia , Coma Insulínico/terapia , Pessoa de Meia-Idade , Recidiva , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Autorrelato , Inquéritos e Questionários
6.
Duodecim ; 127(13): 1361-5, 2011.
Artigo em Finlandês | MEDLINE | ID: mdl-21834340

RESUMO

Insufficient drinking during summer heat may lead to dehydration, but excessive drinking, on the other hand, may also be dangerous. In dehydration, the kidneys decrease urinary secretion by maximally concentrating the urine. When this first-line defense for dehydration has been utilized, thirst will slowly appear and the dehydration will eventually be compensated by drinking. In summer heat, decreased urine volumes are thus the first sign of dehydration and need of drinking. There is thus no use of waiting for the feeling of thirst in summer heat, as rehydration is then already long overdue.


Assuntos
Desidratação/prevenção & controle , Ingestão de Líquidos , Hidratação/métodos , Temperatura Alta , Estações do Ano , Sede , Água , Humanos , Micção
7.
Endocrine ; 74(2): 387-395, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34036515

RESUMO

PURPOSE: Ectopic ACTH syndrome (EAS) is rare. We established a national cohort to increase awareness and address unmet needs. METHODS: The Finnish national EAS cohort includes 60 patients diagnosed in 1997-2016. We assessed clinical features, diagnostic work-ups, treatments, incidence, and outcomes of subgroups occult tumor (OT), well-differentiated neuroendocrine tumor G1/G2 (NETG1/G2) and NET G3/neuroendocrine carcinoma (NETG3/NEC). RESULTS: The distribution of OT, NETG1/G2, and NETG3/NEC was 10 (17%), 20 (33%), and 30 (50%), respectively; and median follow-up 22 months (0-249). Annual incidence (0.20-0.93 per million inhabitants) and tumor subgroups (OT vs. NEC) varied across the country. The longest diagnostic delay from EAS onset to radiological tumor identification was 48 months. In NET/NEC, 6/50 (12%) were diagnosed 1-24 years before EAS onset. Osteoporotic fractures (32%) and severe infections (55%) were common. The CRH stimulation test accurately diagnosed EAS in 25/31 (81%). Metyrapone (≤6 g daily, prescribed in 88%) was well tolerated. In NETG1/G2, 13/20 (65%) underwent curative resection of the primary tumor; four experienced recurrence within 2-12 years. In OT, 70% underwent bilateral adrenalectomy. Five-year overall survival in OT, NETG1/G2, and NETG3/NEC was 90%, 55%, and 0%, respectively (P < 0.001). Morning cortisol, hypokalemia, infections, metastatic disease, and acute onset were negative, whereas resection of the primary tumor and bilateral adrenalectomy were positive predictors of survival. CONCLUSIONS: NET/NEC may precede EAS onset by several years. In NETG1/G2, recurrences may occur > 10 years after successful primary surgery. Tumor subgroup (OT, NETG1/G2, NEC) was an independent predictor of survival.


Assuntos
Síndrome de ACTH Ectópico , Tumores Neuroendócrinos , Síndrome de ACTH Ectópico/diagnóstico , Síndrome de ACTH Ectópico/epidemiologia , Diagnóstico Tardio , Finlândia/epidemiologia , Humanos , Recidiva Local de Neoplasia
8.
Am J Pathol ; 175(6): 2501-7, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19850893

RESUMO

Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to the development of pituitary adenomas. Here, we characterized AIP mutation positive (AIPmut+) and AIP mutation negative (AIPmut-) pituitary adenomas by immunohistochemistry. The expressions of the AIP-related proteins aryl hydrocarbon receptor (AHR), AHR nuclear translocator (ARNT), cyclin-dependent kinase inhibitor 1B encoding p27(Kip1), and hypoxia-inducible factor 1-alpha were examined in 14 AIPmut+ and 53 AIPmut- pituitary adenomas to detect possible expression differences. In addition, the expression of CD34, an endothelial and hematopoietic stem cell marker, was analyzed. We found ARNT to be less frequently expressed in AIPmut+ pituitary adenomas (P = 0.001), suggesting that AIP regulates the ARNT levels. AIP small interfering RNA-treated HeLa, HEK293, or Aip-null mouse embryonic fibroblast cells did not show lowered expression of ARNT. Instead, in the pituitary adenoma cell line GH3, Aip silencing caused a partial reduction of Arnt and a clear increase in cell proliferation. We also observed a trend for increased expression of nuclear AHR in AIPmut+ samples, although the difference was not statistically significant (P = 0.06). The expressions of p27(Kip1), hypoxia-inducible factor 1-alpha, or CD34 did not differ between tumor types. The present study shows that the expression of ARNT protein is significantly reduced in AIPmut+ tumors. We suggest that the down-regulation of ARNT may be connected to an imbalance in AHR/ARNT complex formation arising from aberrant cAMP signaling.


Assuntos
Translocador Nuclear Receptor Aril Hidrocarboneto/metabolismo , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Neoplasias Hipofisárias/metabolismo , Transdução de Sinais/fisiologia , Animais , Antígenos CD34/biossíntese , Antígenos CD34/genética , Translocador Nuclear Receptor Aril Hidrocarboneto/genética , Western Blotting , Inibidor de Quinase Dependente de Ciclina p27 , Regulação para Baixo , Expressão Gênica , Perfilação da Expressão Gênica , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/biossíntese , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Imuno-Histoquímica , Peptídeos e Proteínas de Sinalização Intracelular/genética , Camundongos , Mutação , Neoplasias Hipofisárias/genética , RNA Interferente Pequeno , Receptores de Hidrocarboneto Arílico/biossíntese , Receptores de Hidrocarboneto Arílico/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transfecção
9.
Clin Endocrinol (Oxf) ; 73(1): 72-7, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20039898

RESUMO

OBJECTIVE: To investigate the long-term outcome of fractionated stereotactic radiotherapy (FSRT) [45 Gy (range 45-54) in 25 fractions] in patients with pituitary adenomas characterized by tumour progression or hormonally active disease despite surgery and/or medical therapy. DESIGN: This was an observational follow-up study of 5.25 years (median; range 1.7-10.4). PATIENTS AND MEASUREMENTS: Pituitary tumour volume, visual acuity/fields, hypersecretion, hypopituitarism, cerebrovascular disease, second brain tumours and mortality were examined at regular intervals after FSRT in 30 patients with pituitary adenomas (20 nonfunctioning macroadenomas, 10 functioning). Prior to FSRT, 83% had been operated 1-3 times, 47% had visual field deficits/impaired vision and 50% pituitary dysfunction. Progressive disease, stable disease, partial and complete tumour response were defined by MRI. RESULTS: Tumour growth control was 100%. At the end of follow-up, 30% had stable disease, 60% partial and 10% complete tumour response. Visual function was preserved and 36% of patients with prior field deficits improved. GH decreased from 4.2 (range, 2.3-6.5) to 1.1 (range, 0.5-1.5) microg/l (P < 0.001) in patients with acromegaly, and medical therapy could be reduced. In large prolactinomas, partial response or complete tumour response was achieved. FSRT was well tolerated. Pituitary function remained normal in 27%, 33% of patients had stable dysfunction, 17% deteriorated further and 23% developed new dysfunction. There were no cerebrovascular events, second brain tumours or FSRT-related deaths. CONCLUSION: According to this long-term follow-up study, FSRT is an efficient and safe adjuvant therapy for pituitary adenomas refractory to conventional treatments.


Assuntos
Adenoma/radioterapia , Neoplasias Hipofisárias/radioterapia , Adenoma/patologia , Adulto , Idoso , Fracionamento da Dose de Radiação , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/fisiopatologia , Prolactinoma/radioterapia , Resultado do Tratamento
10.
Duodecim ; 126(17): 2040-6, 2010.
Artigo em Finlandês | MEDLINE | ID: mdl-21053521

RESUMO

Mitotane has been used for 50 years as the first-line drug in the treatment of disseminated adrenocortical carcinoma. It reduces local recurrence of the disease and development of metastases even after a seemingly total surgical removal of the tumor. The use of mitotane has been hampered by its copious adverse effects. Its use requires knowledge of the properties and biological effects of the product. Determination of plasma levels of mitotane will help in carrying out the treatment. The dosage can be optimized and the drug's adverse effects avoided by monitoring the plasma level.


Assuntos
Neoplasias do Córtex Suprarrenal/tratamento farmacológico , Carcinoma Adrenocortical/tratamento farmacológico , Antineoplásicos Hormonais/uso terapêutico , Mitotano/uso terapêutico , Antineoplásicos Hormonais/efeitos adversos , Antineoplásicos Hormonais/sangue , Humanos , Mitotano/efeitos adversos , Mitotano/sangue , Metástase Neoplásica/prevenção & controle , Recidiva Local de Neoplasia/prevenção & controle
11.
Eur J Endocrinol ; 183(6): 539-550, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33055298

RESUMO

OBJECTIVE: Endocrine Society guidelines recommend adrenal venous sampling (AVS) in primary aldosteronism (PA) if adrenalectomy is considered. We tested whether functional imaging of adrenal cortex with 11C-metomidate (11C-MTO) could offer a noninvasive alternative to AVS in the subtype classification of PA. DESIGN: We prospectively recruited 58 patients with confirmed PA who were eligible for adrenal surgery. METHODS: Subjects underwent AVS and 11C-MTO-PET without dexamethasone pretreatment in random order. The lateralization of 11C-MTO-PET and adrenal CT were compared with AVS in all subjects and in a prespecified adrenalectomy subgroup in which the diagnosis was confirmed with immunohistochemical staining for CYP11B2. RESULTS: In the whole study population, the concordance of AVS and 11C-MTO-PET was 51% and did not differ from that of AVS and adrenal CT (53%). The concordance of AVS and 11C-MTO-PET was 55% in unilateral and 44% in bilateral PA. In receiver operating characteristics analysis, the maximum standardized uptake value ratio of 1.16 in 11C-MTO-PET had an AUC of 0.507 (P = n.s.) to predict allocation to adrenalectomy or medical therapy with sensitivity of 55% and specificity of 44%. In the prespecified adrenalectomy subgroup, AVS and 11C-MTO-PET were concordant in 10 of 19 subjects with CYP11B2-positive adenoma and in 6 of 10 with CYP11B2-positivity without an adenoma. CONCLUSIONS: The concordance of 11C-MTO-PET with AVS was clinically suboptimal, and did not outperform adrenal CT. In a subgroup with CYP11B2-positive adenoma, 11C-MTO-PET identified 53% of cases. 11C-MTO-PET appeared to be inferior to AVS for subtype classification of PA.


Assuntos
Radioisótopos de Carbono/metabolismo , Hiperaldosteronismo/diagnóstico por imagem , Hiperaldosteronismo/metabolismo , Tomografia por Emissão de Pósitrons/métodos , Córtex Suprarrenal/diagnóstico por imagem , Córtex Suprarrenal/metabolismo , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
12.
Endocr Relat Cancer ; 16(1): 255-65, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19088184

RESUMO

The study was set up to determine the clinical value of dihydroxyphenylalanine positron emission tomography-computed tomography ([(18)F]DOPA PET-CT) in patients with neuroendocrine tumors (NETs). Eighty-two patients with suspected/known NET were imaged with PET(-CT) using [(18)F]DOPA. Patients were divided into two groups: primary diagnosis/staging and restaging of disease. All patients without previous diagnosis of NET had biochemical proof of disease. The diagnostic accuracy of PET was assessed by comparing the histopathology and clinical follow-up. The overall accuracy of [(18)F]DOPA PET was 90%. In patients having PET for primary diagnosis/staging (n=32), the accuracy of PET was 88%, and for restaging 92% (n=61). The mean s.d. sizes of primary and metastatic lesions detected by PET were 26+/-11 and 16+/-9 mm respectively. In organ-region-specific analysis, the sensitivity and specificity were 100% in the primary diagnosis of pheochromocytoma (n=16) and metastases were found in all cases with recurrent disease (n=5). The accuracy for NET of gastrointestinal tract was 92% in restaging (n=24). For the NETs located in the head-neck-thoracic region (n=19), the overall accuracy of PET was 89% including 12 cases of recurrent medullary thyroid cancer with a sensitivity of 90%. In analysis of patients with biochemical proof of disease combined with negative conventional imaging methods, PET had positive and negative predictive value of 92% and 95% respectively. [(18)F]DOPA PET-CT provided important additional information in the diagnosis of pheochromocytoma and restaging of known NET. Both in primary diagnosis and in patients with formerly known NET and increasing tumor markers, [(18)F]DOPA PET-CT is a sensitive first-line imaging method.


Assuntos
Fluordesoxiglucose F18 , Estadiamento de Neoplasias/métodos , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/patologia , Tomografia por Emissão de Pósitrons/métodos , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/patologia , Adulto , Carcinoma Medular/diagnóstico por imagem , Carcinoma Medular/patologia , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Gastrointestinais/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/patologia , Tomografia por Emissão de Pósitrons/normas , Compostos Radiofarmacêuticos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia
13.
Duodecim ; 125(13): 1427-9, 2009.
Artigo em Finlandês | MEDLINE | ID: mdl-19678499

RESUMO

The health status of a woman with type 1 diabetes was followed during pregnancy in a maternity hospital. In addition to insulin, thyroxine therapy was applied due to hypothyreosis as a consequence of Basedow disease. Nephropathy and significant proteinuria had developed as complications of diabetes, with the proteinuria increasing considerably during pregnancy. Simultaneously thyroxine doses increased to exceptionally high levels. The cause of increasing doses was found to be secretion of thyroxine into urine. The phenomenon has been described earlier, but it is not generally recognized.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Gravidez em Diabéticas/tratamento farmacológico , Tiroxina/administração & dosagem , Adulto , Feminino , Humanos , Gravidez , Proteinúria/etiologia , Tiroxina/urina
14.
Duodecim ; 125(4): 457-65, 2009.
Artigo em Finlandês | MEDLINE | ID: mdl-19358424

RESUMO

Unorganized care on chronic wounds is expensive. Resources are focused on the care of complicated wounds, although a significant proportion of the wounds could be prevented or treated at an early stage. Good care is cost-effective, a delayed care and inoperative treatment chain will waste money and resources. Specialization of medical and nursing staff in wound care will improve treatment outcome. Prerequisites for the necessary care must be guaranteed by creating a complete treatment path for problematic wounds in the capital region.


Assuntos
Ferimentos e Lesões/terapia , Doença Crônica , Análise Custo-Benefício , Humanos , Fatores de Tempo , Resultado do Tratamento , Ferimentos e Lesões/complicações , Ferimentos e Lesões/economia , Ferimentos e Lesões/enfermagem , Ferimentos e Lesões/prevenção & controle , Ferimentos e Lesões/cirurgia
15.
J Clin Endocrinol Metab ; 93(10): 4146-51, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18628514

RESUMO

CONTEXT: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings. OBJECTIVE: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP. DESIGN: Here, we applied the multiplex ligation-dependent probe amplification assay to examine whether large genomic AIP or MEN1 alterations account for a subset of PAP cases. PATIENTS: The study was performed on familial and sporadic pituitary adenoma cases of European origin, which had previously tested negative for germline AIP and MEN1 mutations by sequencing. RESULTS: Two of 21 pituitary adenoma families (9.5%) were found to harbor an AIP deletion. No copy number changes were detected among 67 sporadic pituitary adenoma patients. No MEN1 deletions were found. CONCLUSIONS: The present study shows that large genomic AIP deletions account for a subset of PAP. Therefore, in suspected PAP cases undergoing counseling and AIP genetic testing, multiplex ligation-dependent probe amplification could be considered if direct sequencing does not identify a mutation.


Assuntos
Adenoma/genética , Deleção de Genes , Predisposição Genética para Doença , Peptídeos e Proteínas de Sinalização Intracelular/genética , Neoplasias Hipofisárias/genética , Lesões Pré-Cancerosas/genética , Adenoma/patologia , Adolescente , Adulto , Sequência de Bases , Análise Mutacional de DNA , Família , Feminino , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Neoplasias Hipofisárias/patologia
16.
J Clin Pathol ; 71(2): 129-134, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28801349

RESUMO

AIMS: Widespread use of high-resolution imaging techniques and thus increased prevalence of adrenal lesions has made diagnostics of adrenocortical tumours an increasingly important clinical issue. In non-metastatic tumours, diagnosis is based on histology. New or enhanced information for clinicopathological diagnosis, revealing the malignant potential of the tumour, could emerge by means of biomarkers. The connection of proto-oncogene c-myc to adrenocortical neoplasias is poorly known, although the Wnt/beta-catenin pathway, one of the signalling pathways leading to induction of c-myc expression, has been connected to development of adrenocortical neoplasias. We studied c-myc expression in adrenocortical tumours and investigated molecules associated with the signalling pathway of c-myc, including cell cycle-related proteins p27, cyclin E and cyclin D1. METHODS: We studied 195 consecutive adult patients with 197 primary adrenocortical tumours. Histopathological diagnosis was determined by Weiss score and the novel Helsinki score. C-myc, cyclin D1, cyclin E and p27 expressions were determined by immunohistochemistry. RESULTS: Benign adenomas showed prominent nuclear c-myc expression comparable to that of normal adrenocortical cells, whereas carcinomas showed increased cytoplasmic expression. Strong cytoplasmic and weak nuclear c-myc expressions associated with malignancy and adverse outcome. C-myc staining did not correlate with cyclin E. Cyclin D1 correlated with cytoplasmic c-myc expression and to a lesser extent with nuclear c-myc. P27 correlated with cytoplasmic c-myc, but not with nuclear c-myc. P27 correlated with cyclin E. CONCLUSIONS: Strong cytoplasmic c-myc expression and weak nuclear expression in adrenocortical tumours associated with malignancy and shorter survival.


Assuntos
Adenoma/diagnóstico , Neoplasias do Córtex Suprarrenal/diagnóstico , Biomarcadores Tumorais/metabolismo , Carcinoma/diagnóstico , Proteínas Proto-Oncogênicas c-myc/metabolismo , Adenoma/metabolismo , Adenoma/mortalidade , Adenoma/patologia , Neoplasias do Córtex Suprarrenal/metabolismo , Neoplasias do Córtex Suprarrenal/mortalidade , Neoplasias do Córtex Suprarrenal/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma/metabolismo , Carcinoma/mortalidade , Carcinoma/patologia , Ciclina D1/metabolismo , Ciclina E/metabolismo , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Antígeno Nuclear de Célula em Proliferação/metabolismo , Proto-Oncogene Mas , Transdução de Sinais , Análise de Sobrevida
17.
J Clin Endocrinol Metab ; 92(4): 1237-44, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17227804

RESUMO

CONTEXT AND OBJECTIVE: Fluorine-18-L-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET) is a promising method in localizing neuroendocrine tumors. Recently, it has been shown to differentiate focal forms of congenital hyperinsulinism of infancy. The current study was set up to determine the potential of 18F-DOPA PET in identifying the insulin-secreting tumors or beta-cell hyperplasia of the pancreas in adults. PATIENTS AND METHODS: We prospectively studied 10 patients with confirmed hyperinsulinemic hypoglycemia and presumed insulin-secreting tumor using 18F-DOPA PET. Anatomical imaging was performed with computed tomography (CT) and magnetic resonance imaging (MRI). All patients were operated on, and histological verification was available in each case. Semiquantitative PET findings in the pancreas using standardized uptake values were compared to standardized uptake values of seven consecutive patients with nonpancreatic neuroendocrine tumors. RESULTS: By visual inspection of 18F-DOPA PET images, it was possible in nine of 10 patients to localize the pancreatic lesion, subsequently confirmed by histological analysis. 18F-DOPA uptake was enhanced in six of seven solid insulinomas and in the malignant insulinoma and its hepatic metastasis. Two patients with beta-cell hyperplasia showed increased focal uptake of 18F-DOPA in the affected areas. As compared to CT or MRI, 18F-DOPA PET was more sensitive in localizing diseased pancreatic tissue. CONCLUSION: 18F-DOPA PET was useful in most patients with insulinoma and negative CT, MRI, and ultrasound results. In agreement with previous findings in infants, preoperative 18F-DOPA imaging seems to be a method of choice for the detection of beta-cell hyperplasia in adults. It should be considered for the detection of insulinoma or beta-cell hyperplasia in patients with confirmed hyperinsulinemic hypoglycemias when other diagnostic work-up is negative.


Assuntos
Di-Hidroxifenilalanina/análogos & derivados , Células Secretoras de Insulina/diagnóstico por imagem , Insulinoma/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Adulto , Feminino , Humanos , Hiperplasia , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos
18.
J Clin Endocrinol Metab ; 92(8): 3321-5, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17519308

RESUMO

CONTEXT: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients. OBJECTIVE: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients. DESIGN: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27(Kip1) gene by PCR amplification and direct sequencing. SETTING: The study was conducted at nonprofit academic research and medical centers. PATIENTS: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study. MAIN OUTCOME MEASURES: We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features. RESULTS: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients. CONCLUSIONS: Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.


Assuntos
DNA/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Neoplasia Endócrina Múltipla Tipo 1/genética , Sequência de Aminoácidos , Simulação por Computador , Inibidor de Quinase Dependente de Ciclina p27 , Análise Mutacional de DNA , Mutação em Linhagem Germinativa , Humanos , Imuno-Histoquímica , Dados de Sequência Molecular , Reação em Cadeia da Polimerase Via Transcriptase Reversa
19.
J Clin Endocrinol Metab ; 91(10): 3891-6, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16849407

RESUMO

CONTEXT: It is not known to what extent quality of life of patients treated for acromegaly is dependent on levels of GH and IGF-I attained. OBJECTIVE: The objective of this study is to examine the health-related quality of life (HRQoL) and its dependence on treatment outcome and modality in a nationwide survey of acromegalic patients. DESIGN, SETTING, AND PATIENTS: All eligible patients with acromegaly, diagnosed from January 1980 through December 1999 in Finland, were invited to a follow-up study, carried out 11.4 +/- 5.7 (mean +/- sd) yr after initial treatment. HRQoL of the patients, measured by the generic 15D instrument, was compared with that of the general population. Factors related to HRQoL were analyzed by logistic regression. MAIN OUTCOME MEASURE: HRQoL was the main outcome measure. RESULTS: Of 277 eligible patients, 231 (83.4%) participated in the follow-up study. Of them, 51.1% were in remission according to consensus criteria. The patients reported reduced HRQoL in comparison to the age- and gender-standardized general population (P < 0.001). HRQoL was related to nadir GH in oral glucose tolerance test (GHOGTT) in an inverted U-shaped fashion (overall P = 0.021). Patients with GHOGTT nadir values between 0.3-1.0 microg/liter had a better HRQoL than those with lower or higher values. A normal IGF-I (P = 0.038) and not having had radiotherapy (P = 0.004) were also associated with a better HRQoL. CONCLUSIONS: HRQoL is reduced in treated patients with acromegaly. The best HRQoL may be achieved by normalization of IGF-I and by targeting the GHOGTT nadir to levels between 0.3 and 1.0 microg/liter. Radiotherapy is associated with adverse HRQoL.


Assuntos
Acromegalia/psicologia , Qualidade de Vida , Acromegalia/sangue , Acromegalia/complicações , Acromegalia/terapia , Adulto , Idoso , Diabetes Mellitus/epidemiologia , Feminino , Teste de Tolerância a Glucose , Nível de Saúde , Hormônio do Crescimento Humano/sangue , Humanos , Hipertensão/epidemiologia , Hipopituitarismo/etiologia , Fator de Crescimento Insulin-Like I/análise , Masculino , Pessoa de Meia-Idade
20.
Obes Surg ; 26(9): 2161-2167, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26843084

RESUMO

BACKGROUND: Few studies have examined weight loss sustainability after sleeve gastrectomy (SG). The purpose of this study was to determine long-term outcome after SG and gastric bypass (GBP) and learn whether preoperative weight loss and binge eating behavior can be used to predict outcome. MATERIALS AND METHODS: Together, 257 patients (64 % women) were operated, 163 by GBP and 94 by SG. Binge eating was assessed by binge eating scale (BES) and preoperative weight loss was advised to all, including very low-calorie diet for 5 weeks. Postoperative visits took place at 1 and 2 years, and long-term outcome was at median 5 years (range 2.29-6.85). Multivariate linear regression analysis was used to predict outcome at 2-year and long-term control. RESULTS: Median age was 48 years, weight 141.1 kg, and BMI 48.2 kg/m(2). Preoperative weight loss was median 4.9 % before GBP and 3.8 % before SG, P = 0.04. Total weight loss at year one was 24.1 % in GBP and 23.7 % in SG (P = 0.40), at year two 24.4 and 23.4 % (P = 0.26), and at long-term control 23.0 and 20.2 % (P = 0.006), respectively. Weight was analyzed in 93, 88, and 89 % of those alive, respectively. BES did not predict weight outcome, but larger preoperative weight loss predicted less postoperative weight loss at 2 years. CONCLUSION: On long term, weight loss was better maintained after GBP compared with SG. Binge eating behavior was not a significant predictor, but larger preoperative weight loss predicted less postoperative weight loss for the next 2 years.


Assuntos
Bulimia/epidemiologia , Gastrectomia/estatística & dados numéricos , Derivação Gástrica/estatística & dados numéricos , Obesidade Mórbida/epidemiologia , Obesidade Mórbida/cirurgia , Redução de Peso/fisiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Período Pré-Operatório , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa