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1.
BMC Musculoskelet Disord ; 23(1): 308, 2022 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-35361169

RESUMO

BACKGROUND: Calcific tendinitis of the shoulder (CT) is a common disorder with a large disease burden. The initial treatment is with conservative measures. However, when this fails the next step treatment remains unclear. Minimal invasive treatment modalities have emerged. Needle aspiration of the calcific deposits (NACD) and extracorporeal shock wave therapy (ESWT) have both shown good clinical results. Nonetheless, in the current orthopedic literature there are not any studies available that compare both the effectiveness and cost-effectiveness of those two treatment modalities. Therefore, our primary objective is to compare the effectiveness of NACD to ESWT. A secondary objective is to compare the cost-effectiveness of both treatment modalities and workability. METHODS: Following a power calculation using the minimal clinical important difference of our primary outcome (Constant-Murley score, CMS) 140 patients will be included in the study. Enrolment is based upon strict inclusion/ exclusion criteria outlined in the Methods section. Participants will be randomized by computer in two groups (e.g. 70 patients will receive NACD and 70 patients will receive ESWT). The NACD treatment will consist of a sonographically guided removal of the calcific deposits and the ESWT treatment will be a focused ESWT. Both treatments will be conducted according to a standardized protocol, as part of care as usual in our hospital. The primary outcome will be the between group differences in functional outcome (measured with the CMS) between baseline and after 12 months follow-up. Secondary outcomes will be questionnaires regarding the clinical outcome (SST) and quality of life (EQ-5D-5L). Furthermore, NRS pain and cost related questionnaires (iPCQ and ProDisQ) will be collected during follow-up after two months, six months and at final follow-up after 12 months. DISCUSSION: This study will provide more insight regarding treatment for conservative therapy resistant calcific tendinitis of the shoulder by comparing NACD to focused ESWT, which will aid the physician and patient in determining the appropriate treatment plan. TRIAL REGISTRATION: Dutch trial register: NTR7093 registered on 11 March 2018.


Assuntos
Calcinose , Tratamento por Ondas de Choque Extracorpóreas , Tendinopatia , Calcinose/complicações , Calcinose/diagnóstico por imagem , Calcinose/terapia , Tratamento Conservador , Humanos , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Ombro , Tendinopatia/complicações , Tendinopatia/diagnóstico por imagem , Tendinopatia/terapia , Resultado do Tratamento
3.
Endokrynol Pol ; 73(2): 316-324, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35593681

RESUMO

INTRODUCTION: Although the role of the thyroid ultrasound is well established in the initial thyroid nodule work up, it is still equivocal whether the thyroid ultrasound pattern could have an impact on refining malignancy risk after an indeterminate cytopathology result. We aim to assess the possible supportive role of the thyroid nodule ultrasound malignancy risk features listed in the Polish guidelines when a biopsy result is indeterminate. MATERIAL AND METHODS: We retrospectively reviewed thyroid ultrasound scans from 175 adult patients with thyroid nodules and indeterminate cytopathology results, who underwent thyroid surgery. Sonographic malignancy risk features were reported in accordance with the guidelines of the Polish National Societies Diagnostics and Treatment of Thyroid Carcinoma and included the following: solid structure, hypoechogenicity, microcalcifications, taller than wide shape, irregular margins, features of extrathyroidal expansion, suspicious cervical lymph nodes. RESULTS: The malignancy risk in relevant cytological categories, estimated on the basis of histological verification, was 10.9% for Bethesda III category, 12.1% for Bethesda IV, and 71.4% for Bethesda V. The predominant type of thyroid malignancy was papillary thyroid carcinoma (79%). Thyroid nodules sonographic malignancy risk features provided high specificity but low sensitivity in selected groups of indeterminate thyroid nodules. Microcalcifications was the only characteristic that solely had a clinically relevant positive likelihood ratio (> 10) to suggest malignancy in the analysed cohort, but it was not observed in thyroid nodules eventually verified as follicular thyroid carcinoma. An accumulation of more than one sonographic risk feature yielded significant increase in malignancy risk only in Bethesda V category thyroid nodules. CONCLUSIONS: The impact of sonographic malignancy risk features on refining post-biopsy probability of thyroid cancer in thyroid nodule with indeterminate cytopathology, may be inadequate to sort patients (without any doubt) between those who require thyroid surgery and those who only require surveillance. There is an urgent need to search for new tools in the diagnostics of indeterminate thyroid nodules and to standardize thyroid ultrasound reports.


Assuntos
Calcinose , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Adulto , Biópsia por Agulha Fina/métodos , Humanos , Estudos Retrospectivos , Fatores de Risco , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Ultrassonografia/métodos
4.
Proc Natl Acad Sci U S A ; 119(21): e2116855119, 2022 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-35594394

RESUMO

SignificanceCartilage mineralization is imperative in various processes such as skeletal growth and fracture repair. However, this process may also be pathological, as in the case of the degenerative joint disease, osteoarthritis (OA). Using a posttraumatic OA model (PTOA), we find that cartilage-specific Sirt1 genetic nulls caused severe synovitis and mineralization of the lateral joint compartment, due to augmented Lef1 gene expression. Conversely, cartilage-specific Lef1 nulls exhibited impaired synovitis and mineralization of the lateral joint, accompanied by a reduction of local pain. Consistently, transcriptomic profiles of Lef1-ablated chondrocytes exhibited enhanced anabolism, yet impaired pathways related to calcification and inflammation. Accordingly, cartilage mineralization of the lateral joint compartment relies on amplified inflammatory pathways, contributing to articular damage following PTOA.


Assuntos
Calcinose , Cartilagem Articular , Osteoartrite , Sinovite , Calcinose/metabolismo , Cartilagem Articular/metabolismo , Condrócitos/metabolismo , Humanos , Fator 1 de Ligação ao Facilitador Linfoide/genética , Fator 1 de Ligação ao Facilitador Linfoide/metabolismo , Osteoartrite/genética , Osteoartrite/metabolismo , Sinovite/genética , Sinovite/patologia
5.
Radiol Technol ; 93(5): 454-461, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35508410

RESUMO

PURPOSE: To improve cardiovascular disease (CVD) risk prediction by combining screening techniques and to determine whether the combination of sonographic aortic calcification quantification, measurement of aortic intimal thickness, and monocyte laboratory values provides improved diagnostic detection compared with computed tomography (CT) calcium scoring. METHODS: A pre-experimental design was used to collect imaging, demographic, and biometric data. Data were collected from a convenience sample of 11 volunteers aged 40 to 60 years, including 6 men and 5 women. Collected data included anthropometric measures, laboratory values, flow cytometry, coronary artery calcium scores, atherosclerotic cardiovascular disease (ASCVD) 10-year risk scores, and aortic intimal-medial thickness (IMT). RESULTS: Aortic IMT in the distal portion of the aorta or region 1 was related significantly to mass (r = 0.725, P = .012), body mass index (r = 0.668, P = .025), and ASCVD 10-year risk score (r = 0.747, P = .033). The aortic IMT in mid portion of the aorta or region 2 was related significantly to mass (r = 0.651, P = .030), antihypertensive medications (r = 0.682, P = .021), ASCVD 10-year risk score (r = 0.753, P = .031), and total coronary artery calcification (CAC) (r = 0.626, P = .039). In addition, the proportions of circulating CD14+CD16- (traditional) and CD14+CD16+ (inflammatory) monocytes, and the monocyte surface expression of the adhesion molecules CD11a and CD11c, were correlated with the number of calcifications in regions 1 and 2. DISCUSSION: The use of a modified grading system for sonography provided a nonionizing, noninvasive option to easily assess patients' risks of CVD in an office environment. Although CAC has been used widely as a screening mechanism for CVD, ionizing radiation use might not be justified for those who are asymptomatic. The combination of sonography with flow cytometry demonstrated a promising alternative for assessing CVD risk. CONCLUSION: tBetter quantification of inflammatory markers and atherosclerotic plaques is needed. The combination of noninvasive imaging and advanced laboratory analysis holds promise for assessing and managing CVD risk. This study provides further evidence of the need for continued research with larger sample sizes and diversified populations to improve the quality of CVD risk assessment.


Assuntos
Aterosclerose , Calcinose , Doenças Cardiovasculares , Doença da Artéria Coronariana , Aorta/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Cálcio , Doença da Artéria Coronariana/diagnóstico por imagem , Feminino , Citometria de Fluxo , Humanos , Masculino , Projetos Piloto , Medição de Risco , Fatores de Risco , Tomografia Computadorizada por Raios X
6.
Skinmed ; 20(2): 145-148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35532771

RESUMO

A French (Caucasian) woman with a history of nonobstructive hypertrophic cardiopathy, type 1 diabetes mellitus, cataract, and ante-hypophysary insufficiency had undergone multiple magnetic resonance imaging (MRI) studies. She had developed end-stage renal disease (ESRD) and had undergone hemodialysis for 10 years before receiving a kidney-pancreas allotransplantation at the age of 48 years. She received antithymocyte globulins as induction immunosuppression and steroids (5 mg/d), mycophenolate mofetil (2 g/d), and tacrolimus (5 mg/d) as maintenance immunosuppression. Following transplantation, she underwent a cerebral MRI with injection of a gadolinium-based contrast agent (GBCA) in the work-up for Schwartz-Bartter syndrome. Shortly thereafter, she progressively developed cutaneous infiltration, sclerosis, and hyperpigmentation on her extremities and back (Figure 1), firm nodules on the thighs and the right hand, and confluent papules on the back, all of which were asymptomatic. She had no facial involvement, sclerodactyly, periungual telangiectasias, Raynaud syndrome, or arthralgias. Histologic examination showed mild epidermal hyperplasia and a thickened dermis containing several fibroblasts and some histiocytes (Figure 2a). The alcian blue stain revealed increased dermal mucin deposits (Figure 3b). Remarkably, several round-to-ovoid, well-limited yellowish collagenous structures containing basophilic (elastic) fibers were seen in the dermis (Figures 2b, 2c, 3a, and 4a). These "elasto-collagenous balls" stained blue with Masson's trichrome stain (Figure 4c); the orcein stain confirmed the presence of elastic fibers within them (Figure 4b). Some orange-yellow elasto-collagenous balls contained osteocytes, indicative of osseous metaplasia (Figure 5); these were von Kossa stain-positive, highlighting calcium deposition (Figure 4d). Immunohistochemically, the dermal fibroblasts were variably CD34-positive. Factor XIIIa+ dermal dendrocytes and histiocytic, occasionally multinucleated, CD68+ cells were also seen. (SKINmed. 2022;20:145-148).


Assuntos
Calcinose , Dermopatia Fibrosante Nefrogênica , Transplante de Pâncreas , Dermatopatias , Feminino , Humanos , Rim/patologia , Metaplasia/patologia , Pessoa de Meia-Idade , Dermopatia Fibrosante Nefrogênica/etiologia , Dermopatia Fibrosante Nefrogênica/patologia , Transplante de Pâncreas/efeitos adversos , Dermatopatias/etiologia , Dermatopatias/patologia
8.
Sci Rep ; 12(1): 7685, 2022 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-35538104

RESUMO

Opacification through calcification of hydrophilic acrylic intraocular lenses (IOL) is a severe complication after cataract surgery. Causing symptoms that range from glare through to severe vision loss, the only effective therapy is explantation of the opacified IOL so far. Although IOL calcification is a well-described phenomenon, its pathogenesis is not fully understood yet. The purpose of the current study was to develop a laboratory model to replicate IOL calcification. Calcification could be reproduced using a horizontal electrophoresis and aqueous solutions of calcium chloride and disodium hydrogen phosphate. The analysis of the in vitro calcified IOLs was performed using light microscopy, Alizarin Red and Von Kossa staining, scanning electron microscopy, energy dispersive x-ray spectroscopy and electron crystallography using transmission electron microscopy and electron diffraction. The presented laboratory model could be used to identify hydrophilic IOLs that are at risk to develop calcification and to assess the influence of associated risk factors. In addition, it can serve as a research tool to further understand this pathology.


Assuntos
Calcinose , Opacificação da Cápsula , Lentes Intraoculares , Facoemulsificação , Calcinose/patologia , Remoção de Dispositivo/efeitos adversos , Humanos , Lentes Intraoculares/efeitos adversos , Microscopia Eletrônica de Varredura , Facoemulsificação/efeitos adversos , Falha de Prótese
9.
Dis Markers ; 2022: 5013622, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35510038

RESUMO

Background: Diabetes mellitus (DM) is a group of metabolic diseases characterized by hyperglycemia, which can induce the development of atherosclerosis (AS). Calcification of vascular smooth muscle cells (VSMCs) exerts an important role in the process of AS. In this study, the effects of liraglutide (LIRA) on VSMC under high-glucose condition and its mechanism were explored. Method: After VSMC was treated by high glucose with or without LIRA in vitro, the alkaline phosphatase (ALP) activity was measured by the detection kit, osteogenic marker protein expression was detected by Western blotting, and calcification was determined by alizarin red staining. Subsequently, the DM rat model was established and the ALP activity, calcification, and osteogenic marker proteins were determined in vivo. Immunohistochemical (IHC) staining and hematoxylin-eosin staining were performed on the thoracic aorta of DM rats. Result: The positive rate of SMα-actin expression in the DM + AS group was significantly lower than that in control rats, but LIRA administration increased the positive rate in the model. The expression of Cbfα-1 and OPN in the DM + AS group was significantly higher than that in the control group, while it was decreased after treatment of LIRA. The ALP activity and calcium content were increased in DM + AS rats, and the treatment of LIRA decreased the phenotypes in the rats, so as to delay the progression of AS in DM rats. Meanwhile, LIRA inhibited the ALP activity, upregulated SM-α expression, and downregulated expression of OPN and Cbfα-1 in VSMC under high-glucose (HG) conditions. Mechanically, HG-enhanced ALP activity, AKT, and ERK phosphorylation were inhibited by LIRA, PI3K antagonist LY294002, or ERK1/2 antagonist PD98059, in which cotreatment of LIRA with LY294002 and PD98059 could further enhance the effect of LIRA on VSMC, and GLP-1R antagonists reversed the phenotypes in the model. LIRA blocked the osteogenic transformation of VSMC through PI3K and ERK1/2 signaling pathways, which can be reversed by GLP-1R antagonists. Conclusion: LIRA inhibited the abnormalities in VSMC calcification mediated by the GLP-1R, which was related to PI3K/Akt and ERK1/2 MAPK pathways. Therefore, the prospect and significance of LIRA in the treatment of DM complicated with AS were clarified.


Assuntos
Aterosclerose , Calcinose , Diabetes Mellitus , Animais , Aterosclerose/tratamento farmacológico , Calcinose/metabolismo , Células Cultivadas , Diabetes Mellitus/metabolismo , Glucose/metabolismo , Humanos , Liraglutida/metabolismo , Liraglutida/farmacologia , Liraglutida/uso terapêutico , Músculo Liso Vascular/metabolismo , Miócitos de Músculo Liso/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Ratos
10.
Prenat Diagn ; 42(5): 589-600, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35373843

RESUMO

INTRODUCTION: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. CASE REPORT: We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra-uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. REVIEW: A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.


Assuntos
Calcinose , Exoftalmia , Morte Perinatal , Anormalidades Múltiplas , Caseína Quinase I/genética , Fissura Palatina , Proteínas da Matriz Extracelular/genética , Feminino , Humanos , Recém-Nascido , Microcefalia , Mutação , Osteosclerose , Gravidez
12.
BMC Oral Health ; 22(1): 134, 2022 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-35443664

RESUMO

BACKGROUND: Ectopic odontogenic tumours are rare and difficult to diagnose. Consequently, they are occasionally misdiagnosed as other tumours and overtreated. Dentinogenic ghost cell tumours (DGCTs) are odontogenic neoplasms characterised by a CTNNB1 mutation, ghost cell appearance, and dentinoid-like calcification. Herein, we present a case of ectopic DGCT on the floor of a patient's mouth, providing reliable clinicopathological and genetic evidence of its odontogenicity for the first time. CASE PRESENTATION: A 72-year-old man presented with painless sublingual swelling. Imaging revealed a multi-lobulated, solid-cystic mass on the floor of his mouth. Cytological evaluation showed folded epithelial clusters composed of basaloid cells, keratinised material, and calcification. Histological analysis revealed a multi-cystic, cribriform to solid nest, with an odontogenic satellate reticulum-like epithelium, including ghost cells and dentinoid matrix deposition. Immunohistochemical analysis found that CK19, CK5/6, bcl-2, and p63 were diffuse positive, ß-catenin was focal positive in the nuclei, and the cells in the dentinoid matrix were positive for DMP1. The CTNTTB1 mutation was detected, leading to the final diagnosis of ectopic DGCT. There was no recurrence during the 6-month follow-up. CONCLUSIONS: Overall, we have presented a comprehensive clinical overview of DGCT and identified its pathological and genetic features. This report will aid in the recognition of this rare disease in the future and help to avoid misdiagnosis and overtreatment.


Assuntos
Calcinose , Tumores Odontogênicos , Idoso , Epitélio/patologia , Humanos , Imuno-Histoquímica , Masculino , Boca/patologia , Mutação , Tumores Odontogênicos/diagnóstico , Tumores Odontogênicos/genética
13.
BMC Nephrol ; 23(1): 156, 2022 04 22.
Artigo em Inglês | MEDLINE | ID: mdl-35459121

RESUMO

BACKGROUND: Neutrophil gelatinase-associated lipocalin (NGAL) is not only a bone-derived factor involved in metabolism, but also a biomarker of kidney disease and cardiovascular pathophysiology. We conducted this cross-sectional observational study to explore relationships between plasma NGAL and thoracic aorta calcification (TAC) in maintenance hemodialysis (MHD) patients with and without diabetes. METHODS: Plasma NGAL was measured by ELISA, TAC was evaluated via computed tomography scan using a 3D quantification method or chest radiography aortic arch calcification score. Spearman correlation, Logistic regression and Partial correlation analysis were used to describe the correlations between NGAL and TAC. RESULTS: Plasma NGAL levels were lower in MHD patients with diabetes compared to those without diabetes (49.33(42.37, 55.48) vs 56.78(44.37, 674.13) ng/mL, P = 0.026). In MHD patients without diabetes, lg (NGAL) was positively correlated with ARC value(R = 0.612, P = 0.003) analyzed by Spearman correlation; for partial correlation analysis, lg (NGAL) was positively correlated with ARC value, after adjusting for age and sex (R = 0.550, P = 0.015), adjusting for age, sex and CHD (R = 0.565, P = 0.015), adjusting for age, sex, CHD and Alb (R = 0.536, P = 0.027), or adjusting for age, sex, CHD, Alb, and dialyzer membrane (polysulfone) (R = 0.590, P = 0.016); however, when adjusting for age, sex, CHD, Alb and Ca, the correlation between lg (NGAL) and ARC value disappeared. Positive correlation were found between NGAL and Ca (R = 0.644, P < 0.001), Ca and ACR (R = 0.534, P = 0.013) in Spearman coefficient analysis. CONCLUSION: There were positive correlations among plasma NGAL, serum Ca and ARC in MHD patients without diabetes; which suggests that NGAL is possibly a participant in cardiovascular calcification, in non-diabetic MHD.


Assuntos
Aorta Torácica , Doenças da Aorta , Calcinose , Falência Renal Crônica , Lipocalina-2 , Aorta Torácica/diagnóstico por imagem , Doenças da Aorta/sangue , Doenças da Aorta/complicações , Doenças da Aorta/patologia , Biomarcadores , Calcinose/sangue , Calcinose/complicações , Estudos Transversais , Complicações do Diabetes , Diabetes Mellitus , Humanos , Falência Renal Crônica/sangue , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Lipocalina-2/sangue , Diálise Renal
14.
J Cancer Res Ther ; 18(1): 308-311, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35381809

RESUMO

Immature gastric teratoma is an uncommon germ cell tumor of the stomach. A 6-month-old male child was born through full-term vaginal delivery. After 1 month presented with a history of abdominal distension and palpable mass along with a history of Malena for the past 10 days. Computed tomography scan showed the presence of a large well-defined multilobulated solid cystic lesion with multiple calcifications in the abdominopelvic region. Radiological findings were suggestive of germ cell tumors. The exploratory laparotomy findings showed a large tumor mass with variegated consistency arising from the lesser curvature of the posterior wall of the stomach. The total excision of mass and primary closure of the gastric wall was done. Histopathology of excised specimens showed immature teratoma of the stomach. The child is still on follow-up regularly visited as outpatient, doing well day-to-day activity. We report a very rare case of immature gastric teratoma in an infant on the basis of clinicoradiological and pathological findings.


Assuntos
Calcinose , Neoplasias Gástricas , Teratoma , Criança , Feminino , Humanos , Lactente , Masculino , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Teratoma/diagnóstico , Teratoma/patologia , Teratoma/cirurgia , Tomografia Computadorizada por Raios X
15.
Clin Lab ; 68(4)2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35443599

RESUMO

BACKGROUND: The aim of the study was to investigate the correlation between serum magnesium (Mg) level and cardiac valve calcification (CVC) in patients with chronic kidney disease (CKD). METHODS: A total of 232 CKD patients hospitalized from August 2016 to December 2020 were divided into CVC and non-CVC groups. Their clinical data and laboratory examination results were compared, the risk factors for CVC in CKD patients were explored using logistic regression analysis, and Spearman's method was used to analyze the correlation between serum Mg level and CVC degree. According to the tertiles of mean serum Mg level, they were assigned into low serum Mg group (≤ 0.96 mmol/L), middle serum Mg group (0.97 - 1.07 mmol/L), and high serum Mg group (≥ 1.08 mmol/L). The relationship of serum Mg level with CVC risk in CKD patients was analyzed through the Cox regression model, and a prediction model was established using independent risk factors. RESULTS: Long CKD duration, low serum Mg level, high serum phosphorus (P) level, and high CKD stage were independent risk factors for CVC. Serum Mg level was significantly negatively correlated with the severity of CVC (r = -0.743, p < 0.05). The risk of CVC was significantly higher in low serum Mg group than that in high serum Mg group [hazard ratio (HR) = 2.852, 95% confidence interval (CI): 1.325 - 6.432, p = 0.005]. A CVC prediction model was established based on independent risk factors as follows: CVC predictive value = EXP [0.491 - 0.546 (CKD duration) - 0.454 (serum P level) + 2.145 (serum Mg level) - 0.812 (CKD stage)]/1 + EXP [0.491 - 0.546 (CKD duration) - 0.454 (serum P level) + 2.145 (serum Mg level) - 0.812 (CKD stage)]. The area under curve of the model was 0.750 (95% CI: 0.822 - 0.965), and that of the CVC prediction model for CKD patients in test set was 0.774 (95% CI: 0.761 - 0.975), showing no significant difference from that in training set (p > 0.05). CONCLUSIONS: Low serum Mg level serves as an independent risk factor for CVC in CKD patients, and may increase the risk of CVC. Therefore, the serum Mg level in CKD patients should be corrected timely in clinical practice.


Assuntos
Calcinose , Doenças das Valvas Cardíacas , Insuficiência Renal Crônica , Calcinose/diagnóstico , Calcinose/etiologia , Feminino , Doenças das Valvas Cardíacas/complicações , Valvas Cardíacas , Humanos , Magnésio , Masculino , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico , Fatores de Risco
16.
Hum Genomics ; 16(1): 13, 2022 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-35443721

RESUMO

BACKGROUND: Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). PAM is characterised by the deposition of calcium-phosphate concretions in the alveoli usually progressing over time. No effective treatment is available. So far, 30 allelic variants in patients have been reported but only a few have been functionally characterised. This study aimed to determine the impact of selected SLC34A2 variants on transporter expression and phosphate uptake in cellular studies. METHODS: Two nonsense variants (c.910A > T and c.1456C > T), one frameshift (c.1328delT), and one in-frame deletion (c.1402_1404delACC) previously reported in patients with PAM were selected for investigation. Wild-type and mutant c-Myc-tagged human NaPi-IIb constructs were expressed in Xenopus laevis oocytes. The transport function was investigated with a 32Pi uptake assay. NaPi-IIb protein expression and localisation were determined with immunoblotting and immunohistochemistry, respectively. RESULTS: Oocytes injected with the wild-type human NaPi-IIb construct had significant 32Pi transport compared to water-injected oocytes. In addition, the protein had a molecular weight as expected for the glycosylated form, and it was readily detectable in the oocyte membrane. Although the protein from the Thr468del construct was synthesised and expressed in the oocyte membrane, phosphate transport was similar to non-injected control oocytes. All other mutants were non-functional and not expressed in the membrane, consistent with the expected impact of the truncations caused by premature stop codons. CONCLUSIONS: Of four analysed SLC34A2 variants, only the Thr468del showed similar protein expression as the wild-type cotransporter in the oocyte membrane. All mutant transporters were non-functional, supporting that dysfunction of NaPi-IIb underlies the pathology of PAM.


Assuntos
Calcinose , Pneumopatias , Mutação da Fase de Leitura , Doenças Genéticas Inatas , Humanos , Pneumopatias/genética , Fosfatos , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIb/genética
17.
BMC Cancer ; 22(1): 461, 2022 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-35473554

RESUMO

BACKGROUND: The advantages of prophylactic central lymph node dissection (CLND) for clinically node-negative patients remained a great deal of controversies. Our research was aimed to analyze the relationship between cervical central lymph node metastasis (CLNM) and BRAFV600E mutation, ultrasonic and clinicopathologic characterizes in papillary thyroid carcinoma (PTC). METHODS AND MATERIALS: In current study, a total of 112 consecutive PTC patients who experienced thyroidectomy plus cervical central neck dissection were included in our research. All PTC were pre-operatively analyzed by ultrasonic features, including tumor size, multifocality or not, tumor location, internal components, echogenicity, microcalcification, margins, orientation, taller than wide shape, and internal vascularity. The presence of clinicopathologic factors, including age, sex, T stage, Hashimoto's thyroiditis, and BRAFV600E mutation was then investigated. Univariate and multivariate analysis were conducted to check into the relationship between predictive factors and cervical CLNM in PTC patients, and then a predictive model was also established. RESULTS: Pathologically, 58.0% (65/112) of the PTC patients harbored cervical CLNM. Univariate and multivariate analysis were conducted to identify age < 55 years, tumor size > 10 mm, microcalcification, non-concomitant Hashimoto's thyroiditis and BRAFV600E mutation were predictive factors for cervical CLNM in PTC. The risk score for cervical CLNM in PTC patients was calculated: risk score = 1.284 × (if age < 55 years) + 1.241 × (if tumor size > 10 mm) + 1.143 × (if microcalcification) - 2.097 × (if concomitant Hashimoto's thyroiditis) + 1.628 × (if BRAFV600E mutation). CONCLUSION: Age < 55 years old, PTC > 10 mm, microcalcification, non-concomitant Hashimoto's thyroiditis and BRAFV600E mutation are predictive factors for cervical CLNM. BRAFV600E mutation by pre-operative US-FNA technology synergized with clinicopathologic and ultrasonic features is expected to guide the appropriate surgical management for PTC patients.


Assuntos
Calcinose , Carcinoma Papilar , Neoplasias da Glândula Tireoide , Tireoidite , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/genética , Carcinoma Papilar/cirurgia , Humanos , Metástase Linfática , Pessoa de Meia-Idade , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Fatores de Risco , Câncer Papilífero da Tireoide/genética , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgia , Ultrassom
18.
Sci Rep ; 12(1): 6877, 2022 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-35477730

RESUMO

Deep neural networks (DNNs) show promise in image-based medical diagnosis, but cannot be fully trusted since they can fail for reasons unrelated to underlying pathology. Humans are less likely to make such superficial mistakes, since they use features that are grounded on medical science. It is therefore important to know whether DNNs use different features than humans. Towards this end, we propose a framework for comparing human and machine perception in medical diagnosis. We frame the comparison in terms of perturbation robustness, and mitigate Simpson's paradox by performing a subgroup analysis. The framework is demonstrated with a case study in breast cancer screening, where we separately analyze microcalcifications and soft tissue lesions. While it is inconclusive whether humans and DNNs use different features to detect microcalcifications, we find that for soft tissue lesions, DNNs rely on high frequency components ignored by radiologists. Moreover, these features are located outside of the region of the images found most suspicious by radiologists. This difference between humans and machines was only visible through subgroup analysis, which highlights the importance of incorporating medical domain knowledge into the comparison.


Assuntos
Neoplasias da Mama , Calcinose , Neoplasias da Mama/diagnóstico por imagem , Feminino , Humanos , Redes Neurais de Computação , Percepção , Radiologistas
19.
Cesk Slov Oftalmol ; 78(2): 86-92, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35477249

RESUMO

AIM: Sclerochoroidal calcifications (SCHC) are an uncommon benign ocular condition that occurs in elderly patients. SCHC usually manifest as multiple placoid yellow lesions in the midperipheral fundus, most often in the upper temporal quadrant. They are asymptomatic and often discovered during routine eye examinations in a patient with good visual acuity and visual field. According to the etiology, SCHC are divided into idiopathic, metastatic and dystrophic. CASE REPORTS: This is case report of 2 patients with idiopathic SCHC, who underwent basic eye examinations, fundus photography, optical coherence tomography, ultrasonography, fluorescein angiography, fundusautofluorescence, laboratory screening and in the second case also CT head scan. CONCLUSION: The aim of this publication is to point out the typical features of SCHC and their distinction from more serious conditions that they may resemble.


Assuntos
Calcinose , Doenças da Esclera , Idoso , Calcinose/complicações , Calcinose/diagnóstico , Angiofluoresceinografia/métodos , Fundo de Olho , Humanos , Doenças da Esclera/diagnóstico , Tomografia de Coerência Óptica
20.
FASEB J ; 36(5): e22315, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35429059

RESUMO

Arterial media calcification is an active cell process. This encompasses osteochondrogenic transdifferentiation of vascular smooth muscle cells followed by the deposition of calcium-phosphate crystals. Increasing evidence suggests a significant role for endothelial cells (ECs) in the development of arterial media calcification. This manuscript explores a role for endothelial dysfunction in the disease progression of arterial media calcification. Male rats were randomly assigned to four different groups. The first group received standard chow. The second group was given L-NAME (≈50 mg kg-1 · d-1 ), to induce endothelial dysfunction, in addition to standard chow. The third group and fourth group received a warfarin-supplemented diet to induce mild calcification and the latter group was co-administered L-NAME. Prior to sacrifice, non-invasive measurement of aortic distensibility was performed. Animals were sacrificed after 6 weeks. Arterial media calcification was quantified by measuring aortic calcium and visualized on paraffin-embedded slices by the Von Kossa method. Arterial stiffness and aortic reactivity was assessed on isolated carotid segments using specialized organ chamber setups. Warfarin administration induced mineralization. Simultaneous administration of warfarin and L-NAME aggravated the arterial media calcification process. Through organ chamber experiments an increased vessel tonus was found, which could be linked to reduced basal NO availability, in arteries of warfarin-treated animals. Furthermore, increased calcification because of L-NAME administration was related to a further compromised endothelial function (next to deteriorated basal NO release also deteriorated stimulated NO release). Our findings suggest early EC changes to impact the disease progression of arterial media calcification.


Assuntos
Calcinose , Calcificação Vascular , Doenças Vasculares , Animais , Cálcio , Progressão da Doença , Células Endoteliais , Masculino , NG-Nitroarginina Metil Éster , Ratos , Túnica Média , Calcificação Vascular/induzido quimicamente , Varfarina/toxicidade
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