79 research outputs found
Contrast-enhanced color doppler ultrasonography in suspected parathyroid lesions
No full textPurpose: To assess the usefulness of US contrast media in the evaluation of patients with primary hyperparathyroidism, with a nodule showing US features of a primary parathyroid lesion but lacking the color Doppler US appearance of a parathyroid mass. Material and Methods: Thirteen patients (7 female, 6 male; age range 51-79 years) were examined with US before and after administration of a stabilized galactose-based microbubble contrast agent. Ten patients underwent surgery and the final histological examination demonstrated parathyroid adenoma in 9 cases and a mesenchymal benign nodule in 1 case. Three nodules were proved to be of thyroid origin at fine-needle aspiration biopsy. Results and Conclusion: The use of a US contrast agent resulted in a diagnostic gain compared to unenhanced studies in 12/13 cases. Color Doppler findings characteristic of parathyroid lesions were observed in 7/13 cases, of thyroid nodules in 4/13 cases, and nonspecific patterns in 2/13 cases. Contrast-enhanced color Doppler US can be proposed in selected patients in whom unenhanced color Doppler provides uncertain findings. Its ideal application should be the evaluation of cervical lesions without detectable intranodular flow at unenhanced Doppler studies. In these cases, the contrast agent helps in visualizing typical color Doppler signals of the parathyroid lesions ("vascular pole" and "mixed pattern")
Expression of cyclic nucleotide-gated channels in the rat medial vestibular nucleus
No full textThe role of cyclic nucleotide-gated (CNG) channels in sensory sig- nal transduction in retinal and olfactory cells is widely recognized, but there is increasing evidence that they also play more general functions in the central nervous system as downstream e¡ectors of cyclic nucleotides. Here, we demonstrate the expression of the a-subunit of rod- and olfactory-type CNG channels (CNG1 and CNG2, respectively) in the rat medial vestibular nucleus (MVN). Nested polymerase chain reaction revealed CNG channel mRNA in the MVN, and CNG1 and CNG2 proteins were also detected by Western blotting and immunohistochemistry. Finally, electrophy- siological evidence is provided suggesting that CNG channels play a functional role in the MVN. NeuroReport 16:1939^1943 c2005 Lippincott Williams & Wilkins
A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors
No full textGermline mutations of the MEN 1 gene are responsible for multiple endocrine neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other endocrine tissues. We report on a 55-yr old woman, presentingwith active acromegaly (due to GH-secreting microadenoma), associated to bilateral adrenal
adenomatosis and Hürthle-cell thyroid neoplasia. No evidence of hyperparathyroidism or gastrinsecreting tumor was found. Peripheral blood genomic DNA was extracted, amplified by PCR, purified and analyzed by direct sequencing. The analysis revealed a heterozygous mutation in exon 4 of the MEN 1 gene: a G to A missense mutation at codon 229 (CGC→CAC), which changes arginine to histidine. This mutation causes loss of the HhaI restriction site and can thus be employed for a rapid familiar screening. This case represents a newly recognized germline mutation of the MEN 1 gene
Usefulness of echo-color Doppler in differentiating parathyroid lesions from other cervical masses
No full textThe aim of our study was to clarify possible differential color Doppler US features between parathyroid lesions and other cervical masses. A total of 56 parathyroid lesions in 54 patients with primary hyperparathyroidism were preoperatively examined with color Doppler sonography. Color Doppler flow patterns were compared with those of 72 thyroid nodules and 20 cervical lymph nodes. In 38 parathyroid lesions a correlation between color Doppler patterns and size, location, and pathological findings was performed. Color Doppler sonography showed five vascular distribution patterns: pattern I, absence of flow; pattern II, focal peripheral flow ("vascular pole") with arterial Doppler spectrum; pattern III, peripheral flow; pattern IV, internal flow ("parenchymal pattern"); pattern V, peripheral and intranodular flow. Pattern I was not specific for any cervical lesion considered. Conversely, pattern IV was observed solely in parathyroid lesions, and pattern II was observed in only one nonparathyroid lesion (thyroid nodule). Mixed pattern (pattern V) was observed solely in thyroid nodules. In addition, pattern III was a characteristic finding of thyroid nodules and was observed in only one parathyroid lesion. Color Doppler patterns of the parathyroid masses did not correlate with the size of the lesion or pathological findings, but only with the location of the gland. Our study showed that color Doppler assessment of parathyroid lesions is a useful integration of gray-scale US and may be helpful in distinguishing parathyroid lesions from other cervical masses
Usefulness of echo-color Doppler in differentiating parathyroid lesions from other cervical masses
No full textThe aim of our study was to clarify possible differential color Doppler US features between parathyroid lesions and other cervical masses. A total of 56 parathyroid lesions in 54 patients with primary hyperparathyroidism were preoperatively examined with color Doppler sonography. Color Doppler flow patterns were compared with those of 72 thyroid nodules and 20 cervical lymph nodes. In 38 parathyroid lesions a correlation between color Doppler patterns and size, location, and pathological findings was performed. Color Doppler sonography showed five vascular distribution patterns: pattern I, absence of flow; pattern II, focal peripheral flow ("vascular pole") with arterial Doppler spectrum; pattern III, peripheral flow; pattern IV, internal flow ("parenchymal pattern"); pattern V, peripheral and intranodular flow. Pattern I was not specific for any cervical lesion considered. Conversely, pattern IV was observed solely in parathyroid lesions, and pattern II was observed in only one nonparathyroid lesion (thyroid nodule). Mixed pattern (pattern V) was observed solely in thyroid nodules. In addition, pattern III was a characteristic finding of thyroid nodules and was observed in only one parathyroid lesion. Color Doppler patterns of the parathyroid masses did not correlate with the size of the lesion or pathological findings, but only with the location of the gland. Our study showed that color Doppler assessment of parathyroid lesions is a useful integration of gray-scale US and may be helpful in distinguishing parathyroid lesions from other cervical masse
Correction: Vitamin D status and supplementation before and after Bariatric Surgery: Recommendations based on a systematic review and meta‑analysis
No full textThe article “Vitamin D status and supplementation before and after Bariatric Surgery: Recommendations based on a systematic review and meta‐analysis”, written by Andrea Giustina, Luigi di Filippo, Antonio Facciorusso, Robert A. Adler, Neil Binkley, Jens Bollerslev, Roger Bouillon, Felipe F. Casanueva, Giulia Martina Cavestro, Marlene Chakhtoura, Caterina Conte, Lorenzo M. Donini, Peter R. Ebeling, Angelo Fassio, Stefano Frara, Claudia Gagnon, Giovanni Latella, Claudio Marcocci, Jeffrey I. Mechanick, Salvatore Minisola, René Rizzoli, Ferruccio Santini, Joseph L. Shaker, Christopher Sempos, Fabio Massimo Ulivieri, Jyrki K. Virtanen, Nicola Napoli, Anne L. Schafer, John P. Bilezikian, was originally published electronically on the publisher’s internet portal on September 04, 2023 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on September 09, 2023 to © The Author(s) 2023 and the article is forthwith distributed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0. The original article has been corrected
Multidetector CT in diagnostic work-up of patients with primary hyperparathyroidism
No full textPURPOSE: This study was performed to evaluate the accuracy of multidetector computed tomography (MDCT) in detecting parathyroid lesions in patients with primary hyperparathyroidism.
MATERIALS AND METHODS: We included 60 patients with primary hyperparathyroidism. Preoperative first-line examinations revealed negative and doubtful ultrasound (US) findings in 34 and 26 cases, respectively, and negative, doubtful and positive scintigraphic findings in 19, 20 and 21 cases, respectively. CT findings were compared with the surgical results.
RESULTS: CT examination was positive in 35 cases, negative in 15 cases and doubtful in ten cases. Forty out of 60 patients underwent surgery, and 39 lesions (37 adenomas, two primary hyperplasias) were identified. Surgery was negative in two cases. In eight cases, lesions had ectopic location. Surgery confirmed the CT findings in 23 positive cases. In 8/10 doubtful cases, surgery confirmed the location of the lesion in five cases, identified the ectopic location of lesions in two cases, and was negative in one case. In 9/15 cases with negative CT findings, surgery identified the lesion in eight cases. Sensitivity, specificity and diagnostic accuracy values were 78%, 25% and 73%, respectively.
CONCLUSIONS: MDCT is an accurate second-line diagnostic technique in the detection of parathyroid lesions, allowing exploration of the entire cervical and mediastinal regions
Comparison among sonography, double-tracer subtraction scintigraphy, and double-phase scintigraphy in the detection of parathyroid lesions
No full textOBJECTIVE. This study prospectively evaluated the sensitivity of high-resolution sonography compared with double-tracer Tl-201-Tc-99m scintigraphy (Tl-Tc) subtractive scintigraphy and double-phase Tc-99m-sestamibi (Tc-MIBI) scintigraphy prior to surgery in the assessment of patients with primary hyperparathyroidism in a geographic region where areas of endemic thyroid goiter are present. SUBJECTS AND METHODS. Sonography and scintigraphy were used as first-step imaging procedures in 73 patients with primary hyperparathyroidism. In 30 (41%) of 73 cases, we found an association with a thyroid abnormality. We compared sonography with double-tracer Tl-Tc scintigraphy in 41 cases, with Tc-MIBI scintigraphy in 22 other cases, and with both scintigraphic studies in 10 other cases. RESULTS. Surgery demonstrated 68 solitary parathyroid lesions (66 adenomas, one hyperplasia, and one carcinoma), two adenomas in two patients, and multiple hyperplastic glands in two patients for a total of seven lesions. In one case no abnormal parathyroid gland was found. Overall sensitivity of sonography, Tl-Tc, and Tc-MIBI scintigraphy was 85%, 62%, and 82%, respectively. In patients with concomitant thyroid disease, the sensitivity of sonography, dual-tracer Tl-Tc, and Tc-MIBI was 77%, 67%, and 80%, respectively. CONCLUSION. Our study proves that sonography and scintigraphy are equally able to detect parathyroid lesions before surgery in patients with concomitant thyroid diseases. In patients without thyroid abnormalities, detection rates of sonography and Tc-MIBI do not show any statistical difference, and the detection rate of Tl-Tc is significantly inferior to that of sonography. Sonography alone should be used as the first step for localization of abnormal parathyroid glands prior to surgery, and Tc-MIBI scintigraphy should be used as the second step when sonography is negative
Insights on the Italian Seismic Network from location uncertainties
No full textProbabilistic earthquake locations provide confidence intervals for the hypocentre solutions such as errors encountered in the position, the origin time, and in magnitude. If the relationship of the parameters relative to the local arrangement of the seismic network is considered, such as the node distance, the number of stations, the seismic gap, and the quality of phase readings), the uncertainties can then provide insights on the location capability of the network. In this paper, we collect the earthquake data recorded from the Italian Seismic Network for a time span of 5 years. The data pertain to three different catalogues according to the progressive refinement phases of the location procedure: automatic location, revised location, and published location. By means of spatial analysis,we assess the distribution of the location-related and network-related estimators across the study area. These estimators are subsequently combined to assess the existence of spatial correlations at a local scale. The results indicate that the Italian network is generally able to provide robust locations at the national scale and for smaller earthquakes, and the elongated shape of Italy (and of its network) does not cause systematic bias in the locations. However, we highlight the existence of subregions in which the performance of the network is weaker. At present, a unique 2D, 3-layer velocity model is used for the earthquake location procedure, and this could represent the main limitation for the improvement of the locations. Therefore, the assessment of locally optimized velocity models is the priority for the homogenization and the improvement of the Italian Seismic Network performance.Published1061–10761IT. Reti di monitoraggio e sorveglianzaJCR Journa
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
No full textAlport syndrome (ATS) is a nephropathy characterized by the association of progressive hematuric nephritis with ultrastructural changes of the glomerular basement membrane (thinning, thickening, and splitting), sensorineural deafness, and variable ocular abnormalities (anterior lenticonus, macular flecks, and cataracts). The most common mode of transmission is X-linked inheritance, due to COL4A5 mutations. X-linked ATS is rarely associated with diffuse leiomyomatosis (DL), a benign hypertrophy of the visceral smooth muscle in gastrointestinal, respiratory, and female reproductive tracts. The ATS-DL complex is due to deletions that encompass the 5' ends of the COL4A5 and COL4A6 genes and include the bidirectional promoter. In this paper, we described 3 ATS-DL cases, 2 familial and 1 sporadic bearing a deletion encompassing the 5'-end of both the COL4A5 and COL4A6 genes, as identified by multiplex ligation-dependent probe amplification (MLPA) analysis. The array-CGH technique allowed a better definition of deletion size, confirming that the proximal breakpoint was within COL4A6 intron 2 in 2 cases. Surprisingly, 1 case had a deletion extending proximally beyond exon 3 of COL4A6, as confirmed by qPCR analysis. This is the largest deletion reported to date that has been associated with ATS-DL and this case should lead us to reconsider the mechanisms that might be involved in the development of diffuse leiomyomatosis
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