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1.
《Endocrine practice》2014,20(10):1076-1078
Objective: To report a rare case of primary hyperparathyroidism presenting with hyperparathyroid crisis due to parathyroid hyperplasia with ectopic glands.Methods: We present the initial clinical manifestations, laboratory results, radiologic and surgical findings, and management in a patient who had hyperparathyroid crisis. The pertinent literature and management options are also reviewed.Results: A 60-year-old female presented with hyperparathyroid crisis requiring preoperative stabilization 相似文献
A Case of Nonischemic Cardiomyopathy Associated with Autoimmune Polyglandular Syndrome Type III
Thomas I. Hadwen, MD; Katharine Foster, MD; Jane Buchanan, MD; Steven Sutcliffe, MD; Ashim K. Sinha, MD, FACEAtypical Femoral Fracture in an Osteogenesis Imperfecta Patient Successfully Treated with Teriparatide
Jakob Holm, MD; Pia Eiken, MD, PhD; Lars Hyldstrup, MD, DMSc; Jens-Erik Beck Jensen, MD, PhDDivergent Gender Identity in Three Siblings with 46XX Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by a Novel CYP11B1 Mutation
Bassam Bin-Abbas, MD; Doha Al-Humaida, MD; Afaf Al-Sagheir, MD; Ebtesam Qasem, BSc; Mai Almohanna, PhD; Ali S. Alzahrani, MDChildhood Hypophosphatasia with Homozygous Mutation of ALPL
Supamit Ukarapong, MD; Shankar Srinivas Ganapathy, MD; Jaime Haidet, MD; Gary Berkovitz, MDA Sporadic Case of Pseudohypoparathyroidism Type 1 and Idiopathic Primary Adrenal Insufficiency Associated with a Novel Mutation in the GNAS1 Gene
Santosh K. Chaubey, MD, FRACP; Kunwarjit S. Sangla, MD, FRACP2.
《Endocrine practice》2014,20(5):461-462
Objective: BRAF mutations are the most common genetic alteration found in papillary thyroid carcinoma (PTC). Approximately, 90% correspond to BRAFV600E, although other less common BRAF mutations have been described. The aim of this study was to describe a new mutation on BRAF gene discovered on the previous thyroid cytology of a patient diagnosed with a follicular variant of PTC (FV-PTC).Methods: The mutation was identified by independent cloning of the 2 alleles and direct sequencing in the 相似文献
Pheochromocytoma and Tetralogy of Fallot: a Rare But Potentially Dangerous Combination
Rajeev Kasaliwal; Vijaya Sarathi; Reshma Pandit; Sweta R. Budyal; Amol Bukan; Harshal Kakade; Varsha S. Jagtap; Anurag R. Lila; Tushar Bandgar; Padmavathy S. Menon; Nalini S. ShahHypercalcemia and Acromegaly – Clarifying the connections: A Case Report and Review of the Literature
Pooja Manroa; Subramanian Kannan; Betul Hatipoglu; Angelo LicataA Case of “Late-Onset” Idiopathic Infantile Hypercalcemia Secondary to Mutations in the Cyp24a1 Gene
Peter Wolf; Thomas Müller-Sacherer; Sabina Baumgartner-Parzer; Yvonne Winhofer; Judit Kroo; Alois Gessl, Anton Luger; Michael Krebs3.
4.
《Endocrine practice》2014,20(6):587-588
Objective: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome caused by a VHL gene mutation. Here we report a novel mutation of VHL in a patient diagnosed with malignant pheochromocytoma at the age of 17.Methods: A 17-year-old female was referred for paroxysmal supraventricular tachycardia and anemia. She was diagnosed with a left adrenal pheochromocytoma based on biochemical and imaging studies. A left adrenalectomy was performed. Six months after surgery, 相似文献
A Case of Calciphylaxis in a Patient with Hypoparathyroidism and Normal Renal Function
Blake L. Erdel, MD, Rattan Juneja, MD, Carmella Evans-Molina, MD, PhDOsteomesopyknosis: A Case Report and Review of Sclerosing Bone Disorders
Ada Lyn M. Yao, MD, Pauline M. Camacho, MD, FACEDiagnostic Challenge of Pheochromocytoma in a Patient Receiving Levodopa for Parkinson’s Disease
Masanori Shimodaira, MD, PhD; Tomohiro Niwa, MD; Koji Nakajima MD, PhD; Mutsuhiro Kobayashi, MD, PhD5.
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Cytopathology of non‐invasive follicular thyroid neoplasm with papillary‐like nuclear features: A comparative study with similar patterned papillary thyroid carcinoma variants
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Objective
Noninvasive follicular thyroid neoplasm with papillary‐like nuclear features (NIFTP) is a recently described, indolent thyroid tumor, with well‐defined histopathological diagnostic criteria. Cytology features are not well documented. We reviewed cytology of histologically proven cases of NIFTP and some of its common differentials to look for salient diagnostic features.Methods
Cases reported on histopathology as follicular variant of papillary thyroid carcinoma (FVPTC), or NIFTP between July 2015 and April 2017 having available cytology smears were retrieved and reclassified as NIFTP, FVPTC, and classical papillary thyroid carcinoma with predominant follicular pattern (PTC‐FP). Cytological features were assessed, classified as per The Bethesda System for Reporting Cytopathology and compared.Results
There were 23 NIFTP cases, 18 FVPTC and 8 PTC‐FP. A microfollicle‐predominant pattern was seen in all. Nuclear score was 2 in most NIFTP cases (61%). Pseudoinclusions were absent. NIFTP showed features of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) (III) in 61%, follicular neoplasm/suspicious for a follicular neoplasm (FN/SFN) (IV) in 35% and suspicious for malignancy (SFM) (V) in 4%. Most of the FVPTCs were also called FN/SFN (IV) (56%) or AUS/FLUS (III) (22%). Nuclear features did not statistically differ from NIFTP. PTC‐FP showed high‐grade cytology in 75%, and higher nuclear score (3 in 75%) in contrast to NIFTP (P = .003).Conclusion
NIFTP and FVPTC show a similar distribution among the Bethesda categories hence precluding conclusive distinction on cytology. PTC‐FP, in contrast, was found to have a statistically significant higher nuclear score and more commonly showed malignant cytology.8.
Helen C.-H. He Lawrence Kashat Ipshita Kak Tada Kunavisarut Raefe Gundelach Dae Kim Anthony K.-C. So Christina MacMillan Jeremy L. Freeman Ranju Ralhan Paul G. Walfish 《PloS one》2012,7(9)
Background
Nuclear accumulation of the intracellular domain of epithelial cell adhesion molecule (Ep-ICD) in tumor cells was demonstrated to predict poor prognosis in thyroid carcinoma patients in our earlier study. Here, we investigated the clinical significance of Ep-ICD subcellular localization index (ESLI) in distinguishing aggressive papillary thyroid carcinoma (PTC) from non-aggressive cases.Methods
Using domain specific antibodies against the intracellular (Ep-ICD) and extracellular (EpEx) domains of epithelial cell adhesion molecule, 200 archived tissues from a new cohort of patients with benign thyroid disease as well as malignant aggressive and non aggressive PTC were analyzed by immunohistochemistry (IHC). ESLI was defined as sum of the IHC scores for accumulation of nuclear and cytoplasmic Ep-ICD and loss of membranous EpEx; ESLI = [Ep-ICDnuc + Ep-ICDcyt + loss of membranous EpEx].Results
For the benign thyroid tissues, non-aggressive PTC and aggressive PTC, the mean ESLI scores were 4.5, 6.7 and 11 respectively. Immunofluorescence double staining confirmed increased nuclear Ep-ICD accumulation and decreased membrane EpEx expression in aggressive PTC. Receiver-operating characteristic (ROC) curve analysis showed an area under the curve (AUC) of 0.841, 70.2% sensitivity and 83.9% specificity for nuclear Ep-ICD for differentiating aggressive PTC from non-aggressive PTC. ESLI distinguished aggressive PTC from non-aggressive cases with improved AUC of 0.924, 88.4% sensitivity and 85.5% specificity. Our study confirms nuclear accumulation of Ep-ICD and loss of membranous EpEx occurs in aggressive PTC underscoring the potential of Ep-ICD and ESLI to serve as diagnostic markers for aggressive PTC. Kaplan Meier survival analysis revealed significantly reduced disease free survival (DFS) for ESLI positive (cutoff >10) PTC (p<0.05), mean DFS = 133 months as compared to 210 months for patients who did not show positive ESLI.Conclusion
ESLI scoring improves the identification of aggressive PTC and thereby may serve as a useful index for defining aggressiveness and poor prognosis among PTC patients. 相似文献9.
Mingli Lv Xiaoping Zhang Maoquan Li Quanchi Chen Meng Ye Wenqing Liang Lanbao Ding Haidong Cai Da Fu Zhongwei Lv 《PloS one》2013,8(7)
Background
While many studies have shown that levels of miR-26a are lower in papillary thyroid carcinoma (PTC), the role and mechanism of miR-26a in PTC are unclear.Method
We used database searches to select potential mRNA targets of miR-26a. Anti-miR-26a, miR-26a mimic, siRNA for CKS2 and their effects on cell growth, cell-cycle distribution and colony formation were evaluated. We also evaluate the over-expressed miR-26a in TPC-1 cells in severe combined immune-deficient mice. We used luciferase reporter assays, real-time PCR and western blot analysis to measure the expression and activity of miR-26a, CKS2, and related factors such as cyclin B1, cyclin A, cdk1, bcl-xl and Akt. Finally, we measured the relationship between the levels of miR-26a and CKS2 in PTC and normal thyroid tissues.Results
Relative to normal thyroid tissues, miR-26a is consistently down-regulated in TPC specimens, and CKS2 was identified as a potential target. Up-regulated miR-26a expression or down-regulated CKS2 expression in TPC-1 and CGTH W3 cells lines caused G2 phase-arrest. Decreased miR-26a expression or increased CKS2 expression could have inverse function on PTC cell lines. CyclinB1, cyclinA, bcl-xl and AKt are indirectly regulated by miR-26a in a CKS2-dependent manner. Finally, CKS2 is overexpressed in PTC specimens relative to normal thyroid tissue, and a significant inverse correlation exists between miR-26a and CKS2 expression in clinical PTC specimens.Conclusion
Our data indicate that miR-26a functions as a growth-suppressive miRNA in PTC, and that its suppressive effects are mediated mainly by repressing CKS2 expression. 相似文献10.
Ah Young Park Eun Ju Son Jeong-Ah Kim Ji Hyun Youk Yun Joo Park Cheong Soo Park Hang Seok Chang 《PloS one》2014,9(10)
Objective
To evaluate the association of the BRAFV600E mutation with sonographic features and clinicopathologic characteristics in a large population with conventional papillary thyroid carcinoma (PTC).Methods
We retrospectively reviewed the sonographic features, clinicopathologic characteristics, and presence of the BRAFV600E mutation in 688 patients who underwent thyroidectomy for conventional PTC between January and July 2010 at a single institution. The incidence of the BRAFV600E mutation was calculated. The sonographic features and clinicopathologic characteristics were compared between BRAF-positive and BRAF-negative patients. BRAF-positive patients were subdivided into those with papillary thyroid microcarcinoma (the PTMC group) and those with PTC larger than 10 mm (the PTC>10 mm group), and their sonographic features were compared.Results
The BRAFV600E mutation was detected in 69.2% of patients (476 of 688). Sonographic features were not significantly different between BRAF-positive and BRAF-negative PTC, nor between PTMC and PTC>10 mm groups. The BRAFV600E mutation was associated with male sex (P = 0.028), large tumor size, extrathyroidal extension, central and lateral lymph node metastasis, and advanced tumor stage (P<0.0001).Conclusion
The BRAFV600E mutation was significantly associated with several poor clinicopathologic characteristics, but was not associated with sonographic features, regardless of tumor size. We recommend that patients with a thyroid nodule with any suspicious sonographic feature undergo preoperative BRAFV600E testing for risk stratification and to guide the initial surgical approach in PTC. 相似文献11.
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Objective
A new method was presented to prepare clinical-grade human adipose-derived stromal stem cells (ASCs) and its safety in vitro, such as biological characteristics and genetic features alteration were investigated.Methods
The morphology of the ASCs which were cultured in vitro using serum-free medium was observed. Cell cycle and CD markers profile were tested by flow cytometry, while karyotype was analyzed by the chromosome G-banding technology. Growth factors expression was tested by ELISA and tumor-related genes were analyzed by the real-time PCR, respectively.Results
ASCs were adult stem cells with spindle shape. The proliferation ratio of ASCs began to slow down after 10 passages, and was significant after 15 passages. Cell cycle analysis revealed that the percentage of G2 phase and S phase cells was stable. There was no obvious missing, translocation or dislocation in terms of karyotype. Expression level of tumor relevant genes and cytokines at different passages had no significant difference.Conclusions
The clinical-grade ASCs prepared with this new method, less than ten passages, was safe for clinical trials. 相似文献14.
Introduction
Proliferation and apoptosis are opposing processes by which the cell numbers are kept in a delicate balance, essential for tissue homeostasis, whereas uncontrolled growth of cells is a hallmark of cancer. Papillary thyroid cancer (PTC) is the commonest type of thyroid cancer, with some PTC following an indolent course, whereas the other ones are more aggressive.Aim
To evaluate respective contribution of proliferation and apoptosis in the tumorigenesis of PTC by automated analysis.Materials and Methods
We investigated the immunolabeling of phosphorylated histone H3 (pHH3), cyclin D1, active caspase-3, and bcl-2 in thirteen cases each of metastatic PTC, follicular variant of PTC (FVPTC), papillary microcarcinoma (PMC) and well differentiated tumor of uncertain malignant potential (WDT-UMP). FVPTC cases comprised seven encapsulated and six unencapsulated cases.Results
Proliferation, as assessed by pHH3 and cyclin D1 immunolabeling, was increased in all PTC variants, including the putative precursor lesion WDT-UMP, compared to normal thyroid tissue. pHH3 was immunolabeled in more cells of metastatic PTC than of PMC and of encapsulated FVPTC. Surprisingly, metastatic PTC and unencapsulated FVPTC also demonstrated more cleaved caspase-3 immunolabeled cells than the other types. In contrast, increased expression of bcl-2 protein was seen in normal thyroid areas, encapsulated FVPTC and PMC as compared to metastatic PTC. Metastatic PTC shows higher proliferation than other types of PTC but unexpectedly also higher apoptotic levels. Similar results were also seen with unencapsulated FVPTC, thus suggesting that unencapsulated FVPTC has a potential for adverse outcome. Bcl-2 was immunolabeled in a low percentage of cells in WDT-UMP.Conclusions
The expression of the proliferative protein pHH3 together with the apoptotic marker cleaved caspase-3 may indicate an aggressive behaviour of PTC and loss of apoptosis inhibition by bcl-2 protein can further amplify the role of these proteins in tumor progression. Both cyclin D1 and bcl-2 could prove to be interesting markers of PTC precursor lesions. Automated/digital image quantification approach helps in refining the diagnostic accuracy. 相似文献15.
Francieli Chassot Tarcieli Pozzebon Venturini Fernanda Baldissera Piasentin Janio Morais Santurio Terezinha Inez Estivalet Svidzinski Sydney Hartz Alves 《Revista iberoamericana de micología》2019,36(1):44-47
Background
Candida parapsilosis may acquire resistance to echinocandins, a fact that prompts the search for new therapeutic options.Aims
The present study aimed to evaluate the in vitro activity of antifungal agents, alone and in combination, against four groups of C. parapsilosis strains: (1) echinocandin-susceptible (ES) clinical isolates (MIC ≤ 2 μg/ml), (2) anidulafungin-resistant strains (MIC ≥ 8 μg/ml), (3) caspofungin-resistant strains (MIC ≥ 8 μg/ml), and (4) micafungin-resistant strains (MIC ≥ 8 μg/ml).Methods
Antifungal interactions were evaluated by a checkerboard micro-dilution method. The determination of the MIC to each drug for every isolate according to the Clinical and Laboratory Standards Institute documents M27 (2017) and M60 (2017) was also done.Results
The echinocandins-resistant (ER) strains showed higher MICs to the tested antifungals than the ES strains, except for amphotericin B, for which the ER groups remained susceptible.Conclusions
Most combinations showed indifferent interactions. The use of monotherapy still seems to be the best option. As resistance to echinocandins is an emergent phenomenon, further studies are required to provide clearer information on the susceptibility differences between strains to these antifungal agents. 相似文献16.
The impact of the non‐invasive follicular thyroid neoplasm with papillary‐like nuclear feature terminology in the routine diagnosis of thyroid tumours
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M. Jaconi M. Manzoni A. I. Pincelli V. Giardini M. Scardilli A. Smith G. Fellegara F. Pagni 《Cytopathology》2017,28(6):495-502
Background
Due to the recent proposal of the non‐invasive follicular thyroid neoplasm with papillary‐like nuclear feature (NIFTP) category, the authors analyse the state of the art in the challenging diagnosis of follicular thyroid neoplasms in routine practice.Methods and results
A consecutive series of 200 histological diagnoses, with complete cytological correlation, was analysed following the introduction of the NIFTP definition. The study was conducted in a general hospital with a high prevalence of thyroid benign nodules that accounted for approximately 60% of surgically‐treated nodules. The significant incidence of the new NIFTP category was 7%. Concurrently, a gradual decrease of the follicular variant of papillary thyroid carcinoma (fvPTC) was observed (3.5%). When evaluating the FNA biopsies within the NIFTP group, despite the systematic evaluation of nuclear crowding, enlargement, irregularities and clearing, the final cytological class was often indeterminate for malignancy (Thy3/III‐IV, 71%). At histology, the application of the semiquantitative NIFTP score for the evaluation of the PTC‐like nuclear features was able to discriminate benign lesions (score 0/1) from fvPTC (score 2/3). A certain degree of overlapping still persisted between NIFTP and fvPTC (score 2) or between NIFTP and benign lesions (score 1).Conclusions
In the routine evaluation of FNA biopsies, the presence of subtle and questionable PTC‐like nuclear features still remains a controversial aspect of the diagnostic workflow. Given that the NIFTP category was introduced to stratify the low‐risk group of thyroid tumours more precisely, pathologists should force themselves to apply the nuclear score rigorously and to classify cases assigned a score of 1 as benign proliferations.17.
18.
Blanca Rosales-Acosta Aarón Mendieta Clara Zúñiga Joaquín Tamariz César Hernández Rodríguez José Antonio Ibarra-García Lourdes Villa-Tanaca 《Revista iberoamericana de micología》2019,36(1):1-8
Background
The enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase (Hmgr) catalyzes the synthesis of mevalonate, a key compound for the synthesis of cholesterol in humans and ergosterol in fungi. Since the Hmgr enzymes of Saccharomyces cerevisiae, Schizosaccharomyces pombe and Candida glabrata are similar to the Hmgr enzymes of mammals, fungal Hmgr enzymes have been proposed as a model for studying antifungal agents.Aims
To examine the correlation between inhibiting Um-Hmgr enzyme and the viability, sterols synthesis and mating in Ustilago maydis.Methods
Using in silico analysis, the ORF codifying for Um-Hmgr was identified and the protein characteristics were deduced. The effect of the competitive inhibitors of Um-Hmgr on the viability of this basidiomycota, the synthesis of its sterols, and its mating were evaluated.Results
The Umhmgr gene (XP_011389590.1) identified putatively codifies a protein of 1443 aa (ca. MW = 145.5 kDa) that has a possible binding domain in the endoplasmic reticulum (ER) and high identity with the Hmgr catalytic domain of humans and other yeasts. The inhibition of Um-Hmgr caused a decrease of viability and synthesis of sterols, and also the inhibition of mating. The activity of Um-Hmgr is mainly located in the membrane fraction of the fungus.Conclusions
Given our results we believe U. maydis is a valid model for studying synthetic inhibitors with lipid-lowering or antifungal activity. Additionally, we propose the Hmgr enzyme as an alternative molecular target to develop compounds for treating both phytopathogenic and pathogenic human fungi. 相似文献19.
MAMTA KALRA ULRIKE GERDEMANN JESSICA D. LUU MINTHRAN C. NGO ANN M. LEEN CHRYSTAL U. LOUIS CLIONA M. ROONEY STEPHEN GOTTSCHALK 《Cytotherapy》2019,21(2):212-223
Background aims
EBV type II latency tumors, such as Hodgkin lymphoma (HL), Non-Hodgkin lymphoma (NHL) and nasopharyngeal carcinoma, express a limited array of EBV antigens including Epstein-Barr nuclear antigen (EBNA)1, latent membrane protein (LMP)1, LMP2, and BamH1-A right frame 1 (BARF1). Adoptive immunotherapy for these malignancies have focused on EBNA1, LMP1 and LMP2 because little is known about the cellular immune response to BARF1.Methods
To investigate whether BARF1 is a potential T-cell immunotherapy target, we determined the frequency of BARF1-specific T-cell responses in the peripheral blood of EBV-seropositive healthy donor and patients with EBV-positive malignancies, mapped epitopes and evaluated the effector function of ex vivo–generated BARF1-specific T-cell lines.Results
BARF1-specific T cells were present in the peripheral blood of 12/16 (75%) EBV-positive healthy donors and 13/20 (65%) patients with EBV-positive malignancies. Ex vivo expanded BARF1-specific T-cell lines contained CD4- and CD8-positive T-cell subpopulations, and we identified 23 BARF1 peptides, which encoded major histocompatibility complex class I– and/or II–restricted epitopes. Epitope mapping identified one human leukocyte antigen (HLA)-A*02-restricted epitope that was recognized by 50% of HLA-A*02, EBV-seropositive donors and one HLA-B*15(62)-restricted epitope. Exvivo expanded BARF1-specific T cells recognized and killed autologous, EBV-transformed lymphoblastoid cell lines and partially HLA-matched EBV-positive lymphoma cell lines.Discussion
BARF1 should be considered as an immunotherapy target for EBV type II (and III) latency. Targeting BARF1, in addition to EBNA1, LMP1 and LMP2, has the potential to improve the efficacy of current T-cell immunotherapy approaches for these malignancies. 相似文献20.
Giulia Carrano Simona Paulone Lucía Lainz María-Jesús Sevilla Elisabetta Blasi María-Dolores Moragues 《Revista iberoamericana de micología》2019,36(1):9-16