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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
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.
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《Endocrine practice》2014,20(3):261-262
Objective: Axillary lymph nodes (ALNs) are a rare manifestation of thyroid carcinoma; only 16 cases are in the published literature. This study adds two additional patients, one involving differentiated papillary thyroid carcinoma (PTC) and one case involving medullary thyroid carcinoma (MTC). The limited information on this topic in the literature is also reviewed.Methods: In case 1, a 56-year-old female diagnosed in 2004 with stage IV PTC (lung and rib metastases) under-went total
Tablet Levothyroxine (L-T4) Malabsorption Induced by Proton Pump Inhibitor: A Problem that was Solved by Switching to L-T4 in Soft Gel Capsule
Roberto Vita, MD; Salvatore Benvenga, MDXanthogranuloma as an Unsuspected Cause of Idiopathic Central Diabetes Insipidus
Shunzhong S. Bao, MD; Richard Rapp, MDEctopic Adrenocorticotrophic Hormone Production by Olfactory Neuroblastoma
Nitin Mayur, MD; Rodolfo E. Bordoni, MD; Drew Locandro, MD; Mark McLaughlin, MD4.
《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
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 Krebs5.
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Alexandro Bonifaz Berenice Córdoba-García Tania Simancas-Llanos Marco A. Hernández Erick Martínez-Herrera Andrés Tirado-Sánchez 《Revista iberoamericana de micología》2019,36(1):30-33
Background
Nannizzia nana is a zoophilic dermatophyte that affects animals like pigs, boars and, exceptionally, humans, in whom it causes tinea capitis, as well as tinea corporis and onychomycosis.Case report
Case 1. A previously healthy 8 year-old boy presented to our clinic with a 1-month evolution dermatosis that affected scalp, developing a pseudoalopecic tumor lesion with abundant seropurulent material. The patient had worked in a pig farm. Case 2. A previously healthy 6 year-old girl, sister of the aforementioned child, presented to our clinic with a dermatosis characterized by multiple erythematous-scaly plaques that affected her face, trunk and arms. N. nana was the fungus isolated on culture in both cases. The children were treated with oral griseofulvin and topical ketoconazole that led to clinical and mycological cures.Conclusions
N. nana dermatophytosis, although being rare in humans, can be treated as other cases of dermatophytosis. 相似文献8.
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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10.
Francisco Javier Centellas Pérez Consuelo Martínez Antolinos Sara Piqueras Sánchez Inmaculada Lorenzo González Francisco Llamas Fuentes Carmen Gómez Roldán 《Revista iberoamericana de micología》2019,36(1):48-50
Background
Emerging fungi infections, although being not the most frequent, are a cause of major morbidity and mortality in recipients of solid organ transplants. The infections caused by the fungi Scedosporium apiospermum are a paradigmatic example of these.Case report
We present the clinical case of a 55 year-old female kidney transplant recipient that got infected with S. apiospermum through the skin. Intensive antifungal therapy was started, especially considering that the patient had an arteriovenous fistula at the site of infection. The fungus could have kept in the fistula, and a subsequent reinfection took place. The patient required both medical and surgical treatment (removal of the prosthetic material), that led to a complete recovery.Conclusions
S. apiospermum infections carry a high risk of complications, and are a frequent cause of morbidity and mortality in immunosuppressed/transplant patients. Therefore, the adequate knowledge of this type of mycosis, as well as the making of an adequate differential diagnosis, become fundamental for the prevention of the complications arising from them. 相似文献11.
Lourdes Viñuela Marta Domínguez-Gil Mónica de Frutos Luis López-Urrutia Carmen Ramos José María Eiros 《Revista iberoamericana de micología》2019,36(1):41-43
Background
Fungal infections should be suspected in severe wounds that have been contaminated with organic material or soil, even when the patient is immunocompetent. The aim of this article is to contribute to a better understanding and knowledge of the antifungal sensitivity and epidemiology of some rare pathogens that may trigger severe infections.Case report
Four different moulds were isolated from the wounds of an immunocompetent woman who was involved in a road accident: Lichtheimia corymbifera, Scedosporium boydii, Fusarium solani and Purpureocillium lilacinum. Some of them were isolated from different sites. A profile of in vitro resistance was performed with an Epsilometer (Etest?) using five antifungal agents: voriconazole, posaconazole, itraconazole, anidulafungin an amphotericin B. The results obtained were consistent with those from other cases reported in the literature.Conclusions
Early aggressive surgery, antifungal therapy and, above all, frequent debridement of necrotic tissue, are the tools against filamentous fungi infections. Antifungal sensitivity of any mould involved in an infection has to be determined, in order to a better understanding of these rare pathogens whose incidence is increasing. 相似文献12.
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Alba Pérez-Cantero Pamela Thomson Katihuska Paredes Josep Guarro Javier Capilla 《Revista iberoamericana de micología》2019,36(1):37-40
Background
The incidence of systemic infections by Saccharomyces cerevisiae has increased in recent years, especially among immunocompromised patients. Amphotericin B, voriconazole or echinocandins have been used with favorable outcome against systemic infections by this fungus. However, clinical experience is limited and no in vivo studies have been conducted.Aims
We evaluated the in vitro activity of nine antifungal compounds against S. cerevisiae and the in vivo efficacy of those three antifungals showing the highest in vitro activity by using a murine model of systemic infection.Methods
Minimal inhibitory concentrations (MICs) were determined by the microdilution method against three strains of S. cerevisiae. After intravenous infection with 5 × 107 CFUs, animals received liposomal amphotericin B (5 mg/kg), voriconazole (25 mg/kg) or anidulafungin (5 mg/kg). Treatment efficacy was assessed by determining of CFUs/g in liver, kidney, brain, lung and spleen.Results
5-Fluorocytosine was the most in vitro active compound followed by amphotericin B, voriconazole and anidulafungin. The in vivo study showed that liposomal amphotericin B was the most effective drug driving highest fungal clearance.Conclusions
All treatments reduced the fungal load in comparison to the control group, being liposomal amphotericin B the most effective drug followed by anidulafungin and finally voriconazole. 相似文献14.
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15.
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16.
Randa Bittar Élisabeth Aslangul Philippe Giral Lambert Assoumou Marc-Antoine Valantin Olga Kalmykova Marie-Christine Federspiel Corinne Cherfils Dominique Costagliola Dominique Bonnefont-Rousselot 《Comptes rendus biologies》2017,340(2):109-113
Background
We evaluated the effect of 45 days of rosuvastatin or pravastatin treatment on the distribution of HDL subfractions in HIV-1-infected individuals receiving boosted protease inhibitors (PIs) with cardiovascular risk.Methods
The distribution of HDL subclasses by gradient gel electrophoresis was blindly assessed in 74 HIV-1-infected individuals receiving boosted PIs at baseline and at day 45 of statin treatment, and compared with the distribution obtained in 63 healthy normolipidemic individuals taken as controls.Results
No significant modification appeared in HDL distribution between the two arms of statins for the HIV-1-infected individuals. Nevertheless, when compared to controls, HDL subfractions showed a significantly lower HDL2b proportion and significantly higher proportions of HDL2a and HDL3b (P < 0.001).Conclusion
No difference was observed in HDL distribution between pravastatin and rosuvastatin after 45 days treatment, in HIV-1-infected individuals under PIs. Nevertheless, when compared to healthy normolipidemic subjects, HDL distribution is clearly different, with a distribution in HIV-infected individuals under PIs associated with an increased cardiovascular risk. 相似文献17.
Alberto Romero-Palacios Oliva Mera Gallardo Patricia Jiménez Aguilar José Javier Borrallo Torrejón Carmen Maza Ortega Manuel A. Rodriguez-Iglesias 《Revista iberoamericana de micología》2019,36(1):34-36
Background
Aspergillus tracheobronchitis (ATB) is an uncommon type of invasive pulmonary aspergillosis in which fungal involvement is limited to the tracheobronchial tree. While the more severe forms, such as pseudomembranous and ulcerative ATB, occur almost exclusively in immunocompromised patients, the milder obstructive form may occur in patients without immune deficiency.Case report
The case of a 32 year-old man with no previous history of illness, who was evaluated for recurrent right lower lobe pneumonia, is presented. Microbiological sputum studies revealed growth of Serratia marcescens, and a limited growth of Aspergillus fumigatus, the latter interpreted as a contaminant in the specimen. Bronchoscopy revealed a dense mucous plug at level B10 of the right lower lobe, which could not be removed; no other macroscopic findings of interest were observed. During his hospital admission, the patient expectorated the mucous plug and had a significant subsequent bronchorrhoea. A substantial number of colonies of A. fumigatus grown in the sputum cultures. The patient was given voriconazole, leading to a clinical resolution, with no recurrences.Conclusions
Obstructive ATB is characterised by the excessive production of thick, hyphae-laden mucus, which can obstruct the airway lumen and generate relapsing post-obstructive pneumonias. It is important to consider this diagnosis in immunocompetent patients with recurrent respiratory infections and who show repeated isolation of Aspergillus colonies in the sputum, even in small quantities. 相似文献18.
Giulia Carrano Simona Paulone Lucía Lainz María-Jesús Sevilla Elisabetta Blasi María-Dolores Moragues 《Revista iberoamericana de micología》2019,36(1):9-16
Background
Invasive candidiasis by Candida albicans is associated with high morbidity and mortality, due in part to the late implementation of an appropriate antifungal therapy hindered by the lack of an early diagnosis.Aims
We aimed to evaluate the in vitro antifungal activity of the antibodies against C. albicans germ tubes (CAGTA) raised in a rabbit model of candidemia.Methods
We measured the effect of CAGTA activity by colorimetric XTT and crystal violet assays, and colony forming units count, both on C. albicans planktonic cells and during the course of biofilm formation and maturation. Viability and cell morphology were assessed by optical, fluorescent or scanning electron microscopy.Results
CAGTA ≥50 μg/ml caused a strong inhibition of C. albicans blastospores growth, and DiBAC fluorescent staining evidenced a fungicidal activity. Moreover, electron microscopy images revealed that CAGTA induced morphological alterations of the surface of C. albicans germ tubes grown free as well as in biofilm. Interestingly, CAGTA ≥80 μg/ml reduced the amount of C. albicans biofilm, and this effect started at the initial adhesion stage of the biofilm formation, during the first 90 min.Conclusions
This is the first report showing that CAGTA reduce C. albicans growth, and impair its metabolic activity and ability to form biofilm in vitro. The antigens recognized by CAGTA could be the basis for the development of immunization protocols that might protect against Candida infections. 相似文献19.
Background
Neo-vascularization, an indispensible phenomenon for tissue regeneration, facilitates repair and remodeling of wound tissues. This process is impaired in chronic wounds due to reduced number and recruitment of endothelial cells (ECs), thereby necessitating development of newer strategies to enhance the EC repertoire as a therapeutic approach.Methods
We explored the ‘plasticity’ of Wharton's jelly derived–mesenchymal stromal cells (WJ-MSCs) using an anti-inflammatory drug-mediated enhanced trans-differentiation into ECs, based on our observation of temporal decrease in COX-2 expression during trans-differentiation of MSCs into ECs at day 7 and 14 along with mature ECs.Results
At a physiological level, an increased DiI-labeled acetylated-low density lipoprotein (DiI-Ac-LDL) uptake, proliferation, migration and chick chorio allantoic membrane (CAM)-vasculogenesis occurred while at a molecular level significant up-regulation in messenger RNA (mRNA) and protein expression of endothelial-specific markers, Vegfr2, Pecam, eNOS, VE-Cadh and Tie-2, along with an activated p-VEGFR2 and its downstream mediators were observed in celecoxib-preconditioned ECs as compared with WJ-MSCs. Green fluorescent protein (GFP)-expressing stable WJ-MSCs and trans-differentiated EC-D14 in the absence/presence of celecoxib were generated using antibiotic selection for intradermal transplantation at the wound site on a murine ‘excisional splinting wound’ model. Engraftment of transplanted human cells in immunosuppressant-treated mice was confirmed by a significant increase in the expression levels of human gene-specific endothelial markers at the regenerated wound sites. Morphometrically, increased vascularity and percent wound closure were observed in regenerated wounds of mice transplanted with celecoxib-preconditioned-EC-D14.Conclusion
Cox-2 inhibition led to an enhanced trans-differentiation of WJ-MSCs into ECs that, when transplanted, accelerated the skin regeneration by engraftment and neo-vascularization at the wound bed, suggesting a plausible new therapeutic role of celecoxib. 相似文献20.
Baosong Liu Ming Bai Mengfan Peng Mingsan Miao 《Saudi Journal of Biological Sciences》2019,26(3):577-581