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1.
Hell J Nucl Med ; 21(1): 43-47, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29705816

RESUMO

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder with chronic and relatively stable presentation. Till now brain blood flow derangements have been described only in acute hepatic porphyrias. We describe the first findings of brain perfusion defects, studied by single photon emission tomography/computed tomography (SPET/CT), in two patients affected by CEP, by using a semi-quantification anatomic-standardized voxel-based program compared with magnetic resonance imaging (MRI) results. SUBJECTS AND METHODS: Two Pakistanis brothers were investigated for CEP confirmed by a genetic test. The disease was severe with: skin burning, mood depression and haemolytic anemia. Considering depression, patients underwent brain SPET/CT and MRI. Single photon emission tomography/CT images were processed by neurostat semi-quantitative software. Data obtained were compared to a normal database and z-score images were generated. RESULTS: In both patients we found several perfusion defects evident in transaxial slices and in z-score images obtained by neurostat processing. Magnetic resonance imaging was negative in both patients. Biochemical mechanisms inducing localized brain hypoperfusion are uncertain. However, mismatch between SPET/CT data and MRI was probably due to absence of necrosis. CONCLUSION: In our opinion, SPET/CT could have a key role in this setting of patients due to its high sensitivity and reliability in mild-to-moderate brain perfusion defects detection. Moreover, the quantitative analysis by using neurostat may allow to recognize even mild brain perfusion alterations, difficult to detect only visually.


Assuntos
Encéfalo/fisiopatologia , Circulação Cerebrovascular , Processamento de Imagem Assistida por Computador , Porfiria Eritropoética/diagnóstico por imagem , Porfiria Eritropoética/fisiopatologia , Tomografia Computadorizada de Emissão de Fóton Único , Adulto , Encéfalo/diagnóstico por imagem , Humanos , Masculino
2.
Endocrine ; 55(1): 266-272, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27154872

RESUMO

Primary hyperparathyroidism (PHPT) is associated with hypovitaminosis D as assessed by serum total 25-hydroxyvitamin D (TotalD) levels. The aim of this study is to evaluate whether this is also the case for the calculated bioavailable 25-hydroxyvitamin D (BioD) or free 25-hydroxyvitamin D (FreeD), and whether the vitamin D status is influenced by genetic background. We compared vitamin D status of 88 PHPT patients each with a matched healthy family member sharing genetic background, i.e., first-degree relative (FDR), or not, namely an in-law relative (ILR). We compared TotalD and vitamin D-binding protein (DBP), using the latter to calculate BioD and FreeD. We also genotyped two common DBP polymorphisms (rs7041 and rs4588) likely to affect the affinity for and levels of vitamin D metabolites. TotalD was lower (p < 0.001) in PHPT (12.3 ± 6.6 ng/mL) than either family member group (FDR: 19.4 ± 12.1 and ILR: 23.2 ± 14.1), whether adjusted for DBP or not. DBP levels were also significantly lower (p < 0.001) in PHPT (323 ± 73 mg/L) versus FDR (377 ± 98) or ILR (382 ± 101). The differences between PHPT and control groups for TotalD, BioD, and FreeD were maintained after adjustment for season, gender, and serum creatinine. 25-hydroxyvitamin D, evaluated as total, free, or bioavailable fractions, is decreased in PHPT. No difference was seen between first-degree relative and in-law controls, suggesting that neither genetic nor non-genetic background greatly influences the genesis of the hypovitaminosis D seen in PHPT.


Assuntos
Família , Hiperparatireoidismo Primário/genética , Polimorfismo de Nucleotídeo Único , Deficiência de Vitamina D/genética , Proteína de Ligação a Vitamina D/genética , Vitamina D/análogos & derivados , Adulto , Idoso , Feminino , Humanos , Hiperparatireoidismo Primário/sangue , Hiperparatireoidismo Primário/complicações , Masculino , Pessoa de Meia-Idade , Estações do Ano , Fatores Sexuais , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações
3.
Recenti Prog Med ; 107(8): 444-9, 2016 Aug.
Artigo em Italiano | MEDLINE | ID: mdl-27571561

RESUMO

UNLABELLED: The aim of the study was to assess the diagnostic contribution of hybrid SPECT/CT lymphoscintigraphy compared to planar imaging for the correct identification of sentinel lymph nodes (SLN) in breast cancer (BC) patients. MATERIALS AND METHODS: 73 planar and SPECT/CT lymphoscintigraphies were performed in 70 consecutive patients with BC (70 women, mean age 55.7±12.0 years, range 26-84) for pre-surgical SLNs research. Cohen'K was performed to evaluate the agreement between both techniques; their diagnostic capability was evaluated by the Student's t-test for paired data. RESULTS: In 54/73 (73.9%) lymphoscintigraphies, SLNs were detected both on planar and SPECT/CT images. In 19/73 (26.1%) discordant cases, planar technique showed a higher number of SLNs in 4/19 lymphoscintigraphies, while SPECT/CT in 15/19. Radio-guided surgery confirmed SPECT/CT findings. Concordance between the two techniques was poor (K=-0.095). Overall, SPECT/CT detected 13 SLNs more than planar imaging (p=0.07). Furthermore, in 17/73 (23.2%) lymphoscintigraphies, SPECT/CT defined the exact SLNs anatomical localization, equivocal on planar images. CONCLUSIONS: SPECT/CT demonstrated added value over planar imaging, providing more information for the best surgical approach. It is useful especially in patients with negative or doubt planar imaging.


Assuntos
Neoplasias da Mama , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Linfonodos , Linfocintigrafia , Pessoa de Meia-Idade , Biópsia de Linfonodo Sentinela , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios X
5.
Artigo em Inglês | MEDLINE | ID: mdl-26680773

RESUMO

BACKGROUND: Hereditary Coproporphyria (HCP) is characterized by abdominal pain, neurologic symptoms and psychiatric disorders, even if it might remain asymptomatic. The pathophysiology of both neurologic and psychiatric symptoms is not fully understood. Therefore, aiming to evaluate a possible role of brain blood flow disorders, we have retrospectively investigated cerebral perfusion patterns in Single Photon Emission Computed Tomography (SPECT) studies in HCP patients. MATERIALS & METHODS: We retrospectively evaluated the medical records of patients diagnosed as being affected by HCP. A total of seven HCP patients had been submitted to brain perfusion SPECT study with 99mTc-Exametazime (hexamethylpropyleneamine oxime, HMPAO) or with its functionally equivalent 99mTc-Bicisate (ECD or Neurolite) according with common procedures. In 3 patients the scintigraphic study had been repeated for a second time after the first evaluation at 3, 10 and 20 months, respectively. All the studied subjects had been also submitted to an electromyographic and a Magnetic Resonance Imaging (MRI) study of the brain. RESULTS: Mild to moderate perfusion defects were detected in temporal lobes (all 7 patients), frontal lobes (6 patients) and parietal lobes (4 patients). Occipital lobe, basal ganglia and cerebellar involvement were never observed. In the three subjects in which SPECT study was repeated, some recovery of hypo-perfused areas and appearance of new perfusion defects in other brain regions have been found. In all patients electromyography resulted normal and MRI detected few unspecific gliotic lesions only in one patient. Discussion & Conclusions: Since perfusion abnormalities were usually mild to moderate, this can probably explain the normal pattern observed at MRI studies. Compared to MRI, SPECT with 99mTc showed higher sensitivity in HCP patients. Changes observed in HCP patients who had more than one study suggest that transient perfusion defects might be due to a brain artery spasm possibly leading to psychiatric and neurologic symptomatology, as already observed in patients affected by acute intermittent porphyria. This observation, if confirmed by other well designed studies aiming to demonstrate a direct link between artery spasm, perfusion defects and related symptoms could lead to improvements in HCP treatments.


Assuntos
Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Coproporfiria Hereditária/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/fisiopatologia , Coproporfiria Hereditária/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
6.
Hormones (Athens) ; 12(4): 598-601, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24457409

RESUMO

OBJECTIVE: To describe the biochemical effects of an over-supplementation of vitamin D3 in two patients with primary hyperparathyroidism (PHPT). DESIGN: Two patients (A and B) with PHPT took erroneously 2,400,000 U (300,000 U/day for 8 days) and 4,500,000 U (300,000 U/day for 15 days) of cholecalciferol, respectively. They were followed for 4 months and ionized calcium, creatinine, PTH, 25 hydroxy-vitamin D, 1,25(OH)2D and urinary calcium/creatinine levels were measured. Finally, the patients were operated on and a parathyroid adenoma was removed in both. RESULTS: One week after the last dose of vitamin D, serum ionized calcium (iCa) rose from 1.35 to 1.41 mMol/L (n.r. 1.14-1.31) for patient A, and from 1.43 to 1.62 for patient B, while fasting urinary Calcium/Creatinine (uCa/Cr) augmented from 0.31 to 0.50 mg/mg, and from 0.32 to 0.55, respectively. During the follow-up, the average levels of iCa were 1.37 ± 0.03 and 1.48 ± 0.07 mMol/L, while those of uCa/Cr were 0.29 ± 0.13 and 0.32 ± 0.13, both iCa and uCa/Cr levels returning to baseline values within 4 months. CONCLUSIONS: The unintentional over-supplementation of vitamin D in the two PHPT patients caused a moderate and temporary increase of hypercalcemia and hypercalciuria and was not associated with clinical signs of toxicity.


Assuntos
Suplementos Nutricionais , Hiperparatireoidismo Primário/tratamento farmacológico , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/administração & dosagem , Vitamina D/uso terapêutico , Adenoma/cirurgia , Cálcio/sangue , Cálcio/urina , Relação Dose-Resposta a Droga , Feminino , Homeostase , Humanos , Hiperparatireoidismo Primário/metabolismo , Pessoa de Meia-Idade , Neoplasias das Paratireoides/cirurgia , Paratireoidectomia , Resultado do Tratamento , Deficiência de Vitamina D/metabolismo
7.
Cell Oncol (Dordr) ; 34(5): 435-41, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21503779

RESUMO

BACKGROUND: Somatostatin (SS) acts as a universal endocrine off-switch, and also inhibits the growth of neuroendocrine tumours through its specific receptors (SSTRs). Somatostatin receptors are G-protein-coupled receptors, which are encoded by five separate genes (SSTR1-5). Short peptide analogues demonstrate specific binding only for the subgroup consisting of SSTR2a, SSTR3 and SSTR5. Moreover, previous studies reported that expression of mRNA for SSTR2a correlated with therapeutic outcome in patients with carcinoid tumours treated with somatostatin analogs. PURPOSE: To develop and apply a Real Time Quantitative PCR technique (RT-qPCR) to compare and contrast the mRNA levels of SSTR2a, SSTR3 and SSTR5 in Neuroendocrine Lung Cancer affected patients. METHODS: Peripheral blood samples from 21 neuroendocrine lung cancer affected patients (14 SCLC, 6 LC and 1 LCNEC) subjected to scintigraphy with (111)In-DTPA-D-Phe(1)-octreotide (OctreoScan) and 24 healthy blood donors were investigated by RT-qPCR. mRNA levels for SSTR2a, SSTR3 and SSTR5 were measured in peripheral blood samples with a relative quantification method using plasmid dilutions as calibration curves and GAPDH as reference gene. RESULTS: A statistically significant increase in target genes/GAPDH copy number ratio was found for SSTR2a (median 38; IQR 22-141) and SSTR5 (median 51; IQR 19-499) in neuroendocrine lung cancer affected patients as compared with samples from healthy blood donors (P ≤ 0.0003 and P ≤ 0.0005). Since low levels of expression were detected in the control group for all three genes, optimal cut-off values were assessed using ROC curve analyses and were equal to 9.05 for SSTR2a and 16.97 for SSTR5. These cut off values resulted in a sensitivity of 86% (95%IC 65-95) for both markers and a specificity of 83% (95%IC 64-93%) and 79% (95%IC 60-91%) for SSTR2a and SSTR5 respectively. Comparison between OctreoScan results and RT-qPCR analysis demonstrated agreement in 76% of the cases. CONCLUSIONS: Our results suggest that SSTR2a and SSTR5 mRNAs are detectable in peripheral blood of neuroendocrine lung cancer affected patients using real-time quantitative PCR, with a good agreement with OctreoScan. The high sensitivity of this non-invasive molecular technique suggests that this method could represent a useful tool in the clinical management of neuroendocrine lung cancers.


Assuntos
Regulação Neoplásica da Expressão Gênica , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/genética , Tumores Neuroendócrinos/sangue , Tumores Neuroendócrinos/genética , Receptores de Somatostatina/sangue , Receptores de Somatostatina/genética , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/genética , Estudos de Casos e Controles , Feminino , Humanos , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Tumores Neuroendócrinos/patologia , Curva ROC , Receptores de Somatostatina/classificação , Reação em Cadeia da Polimerase Via Transcriptase Reversa
8.
Bone ; 47(3): 626-30, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20601288

RESUMO

INTRODUCTION: Previous papers investigating vitamin D status have often outlined the significant relationships between serum parathyroid hormone (PTH) and 25-hydroxyvitamin D (25OHD), but the influence of ionized calcium levels has not been concomitantly considered. DESIGN: Cross-sectional. MATERIALS AND METHODS: In 1050 healthy men (547) and women (503), serum ionized calcium (iCa), creatinine (Cr), albumin, 25OHD, and PTH were measured. After conventional analysis, a regression tree was fitted on the data set. RESULTS: 25OHD and PTH values showed significant opposite seasonal changes. 25OHD levels negatively correlated with PTH, which in turn negatively correlated with iCa. A regression tree was fitted to the whole data set using PTH as the response variable and 25OHD and iCa as covariates. PTH concentration depended on that of iCa only in subjects with 25OHD levels>16.35 ng/mL, while for 25OHD<16.35 ng/mL it depended on 25OHD values. CONCLUSIONS: Our results indicated that PTH levels were highly conditioned by those of 25OHD in subjects with 25OHD values lower than 16.35 ng/mL and by those of iCa only for higher 25OHD concentration.


Assuntos
Cálcio/sangue , Hormônio Paratireóideo , Vitamina D/análogos & derivados , Vitamina D/sangue , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Hormônio Paratireóideo/metabolismo
9.
J Clin Endocrinol Metab ; 91(1): 60-3, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16219716

RESUMO

CONTEXT: Although the prognosis of papillary thyroid microcarcinoma (PTMC) is usually excellent, the optimal follow-up strategy has never been investigated. OBJECTIVE: The objective of the study was to investigate the role of neck ultrasonography (US), whole-body scintigraphy (WBS), and serum thyroglobulin levels (Tg) after recombinant human (rh) TSH in the follow-up of very low-risk PTMC patients. DESIGN: The study was a 5-yr observational study based on a 6- to 12-month follow-up after near total thyroidectomy. SETTING: The study population consisted of ambulatory patients. PATIENTS: Eighty consecutive patients diagnosed with PTMC, who had not undergone postoperative radioiodine treatment because of unifocal tumor without lymph node metastases and who did not have anti-Tg antibodies, were included. MAIN OUTCOME MEASURES: WBS and Tg after both rhTSH and neck US were measured. RESULTS: rhTSH-Tg was 1 ng/ml or less in 45 (Tg-) and more than 1 in 35 (Tg+) patients. WBS showed no pathological uptake in any patient. US identified node metastases in two Tg (+) and one Tg (-) patients. rhTSH-Tg levels positively correlated with thyroid bed iodine uptake (r = 0.40, P < 0.0001). To date (32 +/- 13 months after surgery), all node-negative patients have undetectable Tg levels on LT(4) treatment and negative US. CONCLUSIONS: For the initial follow-up of PTMC patients without risk factors and anti-Tg antibodies and who did not undergo radioiodine treatment: 1) WBS is useless; 2) US is highly sensitive in detecting node metastases; and 3) detectable rhTSH-Tg levels mainly depend on small normal tissue remnants. In this subgroup of PTMC patients, neck US might be regarded as a primary tool for the initial follow-up.


Assuntos
Carcinoma Papilar/diagnóstico , Pescoço/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico , Tireotropina , Adulto , Carcinoma Papilar/diagnóstico por imagem , Feminino , Câmaras gama , Humanos , Radioisótopos do Iodo/uso terapêutico , Masculino , Pessoa de Meia-Idade , Cintilografia , Proteínas Recombinantes , Recidiva , Tireoglobulina/sangue , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia , Contagem Corporal Total
10.
J Nucl Med ; 44(2): 207-10, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12571210

RESUMO

UNLABELLED: Therapeutic options for toxic thyroid nodules (TTNs) are surgery, radioiodine (RAI), and percutaneous ethanol injection (PEI). Surgery is generally considered for TTNs larger than 4 cm. However, some patients may be at high surgical risk. The purpose of the study was to evaluate the efficacy of 2 nonsurgical modalities for these TTNs. METHODS: Twenty-two patients with TTNs larger than 4 cm were randomly assigned to 2 different treatments: to 11 (subgroup A), RAI was administered at a dose of 12,580 kBq/mL of nodular volume (NV) and was corrected for 100% 24-h (131)I uptake (RAIU); to 11 (subgroup B), 2-4 PEI sessions (ethanol injected = 30% NV) preceded 2 mo of 24-h RAIU and RAI dosing. Inclusion criteria were clinical and biochemical hyperthyroidism; a single palpable, hot nodule at (99m)Tc scintigraphy; and high surgical risk or refusal to have surgery. Patients gave informed consent. Local symptoms were evaluated by a previously validated score (symptom score, or SYS). RESULTS: Both treatments were well tolerated. Subgroup B showed a significant reduction of NV 2 mo after PEI: 33.6 +/- 18.5 versus 60.8 +/- 29.5 mL. Their 24-h RAIU was similar to that of subgroup A: 53.9 +/- 13.9 versus 61.8% +/- 11.0%. Consequently, the administered RAI dose was significantly lower for subgroup B (730 +/- 245 MBq) than for subgroup A (1,048 +/- 392 MBq). Twelve months after RAI, subgroup B had a higher NV reduction and a lower SYS than did subgroup A. In subgroup A, 1 patient was subclinically hyperthyroid, 2 showed a slight increase of thyroid-stimulating hormone, and 1 was clinically hypothyroid. In subgroup B, 1 patient had a slight increase of thyroid-stimulating hormone. CONCLUSION: We demonstrated that RAI, alone or with PEI, can be considered a valid alternative for TTNs larger than 4 cm when surgery is either refused or contraindicated. PEI plus RAI can be considered when marked shrinkage of a nodule is required or when reduction of the RAI dose can prevent hospitalization.


Assuntos
Etanol/administração & dosagem , Radioisótopos do Iodo/administração & dosagem , Nódulo da Glândula Tireoide/tratamento farmacológico , Nódulo da Glândula Tireoide/radioterapia , Idoso , Quimioterapia Adjuvante/métodos , Terapia Combinada , Relação Dose-Resposta a Droga , Relação Dose-Resposta à Radiação , Feminino , Humanos , Injeções Subcutâneas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Compostos Radiofarmacêuticos/administração & dosagem , Nódulo da Glândula Tireoide/diagnóstico , Resultado do Tratamento
11.
Eur J Endocrinol ; 148(1): 19-24, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12534353

RESUMO

OBJECTIVE: The 'standard' postoperative follow-up of patients with differentiated thyroid cancer (DTC) has been based upon serum thyroglobulin (Tg) measurement and (131)I whole body scan ((131)I-WBS) after thyroid hormone (T(4)) treatment withdrawal. However, (131)I-WBS sensitivity has been reported to be low. Thyroid hormone withdrawal, often associated with hypothyroidism-related side effects, may now be replaced by recombinant human thyroid stimulating hormone (rhTSH). The aim of our study was to evaluate the diagnostic accuracy of (131)I-WBS and serum Tg measurement obtained after rhTSH stimulation and of neck ultrasonography in the first follow-up of DTC patients. DESIGN: Ninety-nine consecutive patients previously treated with total thyroidectomy and (131)I ablation, with no uptake outside the thyroid bed on the post-ablative (131)I-WBS (low-risk patients) were enrolled. METHODS: Measurement of serum Tg and (131)I-WBS after rhTSH stimulation, and ultrasound examination (US) of the neck. RESULTS: rhTSH-stimulated Tg was 1 ng/ml (Tg+) in 21 patients, including 6 patients with Tg levels >5 ng/ml. (131)I-WBS was negative for persistent or recurrent disease in all patients (i.e. sensitivity = 0%). US identified lymph-node metastases (confirmed at surgery) in 4/6 (67%) patients with stimulated Tg levels >5 ng/ml, in 2/15 (13%) with Tg >1<5 ng/ml, and in 2/78 (3%) who were Tg-negative. CONCLUSIONS: (i) diagnostic (131)I-WBS performed after rhTSH stimulation is useless in the first follow-up of DTC patients; (ii) US may identify lymph node metastases even in patients with low or undetectable serum Tg levels.


Assuntos
Carcinoma Papilar, Variante Folicular/diagnóstico por imagem , Carcinoma Papilar, Variante Folicular/tratamento farmacológico , Tireoglobulina/sangue , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/tratamento farmacológico , Tireotropina/uso terapêutico , Adulto , Idoso , Feminino , Seguimentos , Humanos , Radioisótopos do Iodo , Masculino , Pessoa de Meia-Idade , Cintilografia , Proteínas Recombinantes/uso terapêutico , Fatores de Risco , Ultrassonografia
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