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1.
Curr Opin Ophthalmol ; 32(1): 31-44, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33165018

RESUMO

PURPOSE OF REVIEW: Phacoemulsification cataract surgery is one of the most commonly performed surgical procedure worldwide. In the majority of cases, intraocular lenses (IOLs) are implanted. Due to the increasing life expectancy and the fact that cataract surgery is performed in earlier stages, the anticipated IOL duration in the eye has increased over the last decades. The aim of this study was to review the types and describe the characteristics of late intraocular lens opacifications. RECENT FINDINGS: Calcification was the most commonly reported type of opacification in hydrophilic IOLs; it usually negatively impacted the visual function and required IOL explantation. Glistening manifested in hydrophobic acrylic lenses and was frequent in some IOL models. In most cases glistening and subsurface nanoglistenigs do not lead to a decline in visual acuity or require IOL exchange. Current studies indicate that fluid-related phenomena may induce straylight, leading to a decrease of comfort and quality of vision. SUMMARY: Several reports on late IOL opacifications have been published in recent years. In some cases, particularly in glistening, the development of the opacifications might be related to IOL aging. The influence of the fluid-related microvacuoles on the quality of vision requires further research.


Assuntos
Calcinose/patologia , Implante de Lente Intraocular , Lentes Intraoculares , Óptica e Fotônica , Facoemulsificação , Falha de Prótese , Humanos
2.
Cardiovasc Pathol ; 50: 107298, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33080398

RESUMO

Idiopathic myocardial calcification is a rare disease. Herein, we report a case of massive idiopathic calcification; a 78-year-old woman presented with acute heart failure with preserved ejection fraction (HFpEF). Computed tomography and magnetic resonance imaging showed diffused calcified nodules in the myocardium. The patient was treated for HFpEF; however, the calcified nodules and diastolic dysfunction gradually progressed. She was hospitalized for heart failure with preserved ejection fraction 6 times before her death at the age of 84 years. The pathological report showed calcified nodules with surrounding collagen fibers in the myocardium and tiny calcifications within the myocytes. Thus, idiopathic myocardial calcification can result in HFpEF, while calcification and diastolic dysfunction can gradually worsen.


Assuntos
Calcinose/patologia , Cardiomiopatias/patologia , Miocárdio/patologia , Idoso , Calcinose/complicações , Calcinose/diagnóstico por imagem , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico por imagem , Progressão da Doença , Feminino , Fibrose , Insuficiência Cardíaca/etiologia , Humanos
3.
PLoS One ; 15(12): e0243232, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33326424

RESUMO

AIM: This study explores the association between Coronary Artery Calcium (CAC) scores and dental pathology such as missing teeth, the (peri-apical) health status and restoration grade of the teeth, and the grade of alveolar bone loss seen on a dental panoramic radiograph (Orthopantomograph-OPG). MATERIALS AND METHODS: In this retrospective cross-sectional study, data was collected from three hospitals spread in the Netherlands. Patients were included when a CAC score and an OPG were available, both recorded within a maximum period of 365 days from 2009-2017. The CAC score was measured on a CT scan, using the Agatston method. To assess dental pathology, the number of missing teeth, the number of dental implants, alveolar bone loss, caries, endodontic treatments, peri-apical radiolucencies, bone loss at implants, impacted teeth and dental cysts, were determined on the OPG. All observers were calibrated. The electronic health records provided information about: gender, age, smoking, Diabetes Mellitus, hypercholesterolemia, hypertension and Body Mass Index (BMI). RESULTS: 212 patients were included. We found a statistically significant association between the number of missing teeth and the CAC score. When modeling age, sex, and other well-known risk factors for cardiovascular disease, the significant correlation was no longer present after multivariate correction. Furthermore, the results showed a trend for more teeth with peri-apical lesions and a higher percentage of mean alveolar bone loss in the group with the highest CAC scores. CONCLUSION: This study showed that being edentulous or missing teeth is correlated to higher CAC scores however failed to be an independent predictor of atherosclerotic cardiovascular diseases. The number of (missing) teeth is an easily accessible marker and could be used as a marker for atherosclerotic cardiovascular disease (ACVD) risk by almost any healthcare worker. The current study needs to be considered as an explorative pilot study and could contribute to the design of further (prospective) studies on the relationship between dental pathology and coronary artery calcification by adding clinical information and extra cardiovascular biomarkers.


Assuntos
Calcinose/etiologia , Cálcio/análise , Vasos Coronários/patologia , Perda de Dente/complicações , Adulto , Idoso , Aterosclerose/etiologia , Aterosclerose/patologia , Calcinose/patologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/patologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Retrospectivos , Fatores de Risco , Perda de Dente/patologia
4.
BMC Neurol ; 20(1): 386, 2020 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-33097034

RESUMO

BACKGROUND: In this study, we report a case of a young female who was hospitalized for seizures and diagnosed with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. CASE PRESENTATION: The main feature of this patient was bilateral temporal calcifications detected by routine head computed tomography (CT). The co-existence of anti-NMDAR encephalitis and cerebral calcifications has not been reported. We supposed that the patient had an incomplete form of celiac disease (CD), epilepsy and cerebral calcifications syndrome (CEC). The patient's symptoms were alleviated by a series of treatments, and she remained stable during the follow-ups. CONCLUSIONS: Our findings confirm the rarity co-existing anti-NMDAR encephalitis and cerebral calcifications. In future clinical work, we need to elucidate the relationship between anti-NMDAR encephalitis and cerebral calcifications, and the association between anti-NMDAR encephalitis and other co-existing autoimmune disorders.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalopatias/complicações , Encefalopatias/patologia , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Calcinose/complicações , Calcinose/patologia , Feminino , Humanos , Convulsões/etiologia , Tomografia Computadorizada por Raios X , Adulto Jovem
5.
Medicine (Baltimore) ; 99(40): e22550, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019466

RESUMO

This study aimed to investigate the associations between the sonographic findings and duration of symptoms in children with pilomatricoma.This study included 86 children with 95 lesions confirmed to be pilomatricoma after pathological examination. The associations between symptom duration and sonographic observations, including the presence or absence of peritumoral hyperechogenicity, calcification, and vascularity were investigated. The internal echogenicity of each pilomatricoma was scored using a 5-point scale based on echogenic spots and calcification with posterior acoustic shadowing. The Mann-Whitney U and Kruskal-Wallis tests were used for statistical analysis.We found that the absence of peritumoral hyperechogenicity and severity of calcification were associated with increased symptom duration. Calcification, (present, 19.19 ±â€Š18.99 months vs absent, 4.31 ±â€Š3.24 months; P < .01) and peritumoral hyperechogenicity (present, 5.02 ±â€Š5.80 months vs absent, 16.17 ±â€Š18.24 months; P < .01), and grade of internal echogenicity (grade 0/1/2/3/4 = 3 months [1 patient]/4.33 ±â€Š3.26 months [range, 1-12]/4.57 ±â€Š3.46 months [range, 2-12]/10.89 ±â€Š9.17 months [range, 3-28]/35.27 ±â€Š19.16 months [range, 9-60], respectively; P = .01 and <.01) were associated with significant differences in symptom duration. There were no significant between-group differences in vascularity (6.01 ±â€Š7.24 months; range, 1-48 vs 15.50 ±â€Š19.12 months; range, 1-60; P = .08).Pilomatricomas with a relatively short symptom duration were more likely to exhibit peritumoral hyperechogenicity and calcification with less severe posterior acoustic shadowing compared to lesions with a longer symptom duration. These sonographic findings provided useful information that facilitated the correct and rapid diagnosis of pilomatricoma.


Assuntos
Pilomatrixoma/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Avaliação de Sintomas/estatística & dados numéricos , Ultrassonografia/métodos , Calcificação Fisiológica , Calcinose/diagnóstico por imagem , Calcinose/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Avaliação de Sintomas/tendências
7.
Medicine (Baltimore) ; 99(31): e21477, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32756172

RESUMO

RATIONALE: Acute calcium deposits, including acute calcific periarthritis or acute calcific peritendinitis, are benign calcifying soft tissue lesions that have a self-resolving course. These calcifying lesions usually develop in the shoulder, while acute calcific periarthritis in the digits is uncommon. When acute calcific periarthritis involves the digits, the lesion occasionally mimics other benign calcifying or ossifying lesions and can easily be misdiagnosed, resulting in unnecessary diagnostic studies and treatment. We present a rare case of acute calcific periarthritis around the proximal phalangeal joint of the left fifth finger that took a long time to spontaneously resolve, and review previous reports of similar cases. PATIENT CONCERNS: A 69-year-old woman complained of longstanding pain and swelling of the fifth finger of the left hand. She had visited several clinics and hospitals and had been treated with analgesics and splinting for more than 2 months, but the pain in the finger had gradually worsened. DIAGNOSES: Blood chemistry analysis showed no signs of inflammation or other abnormalities. Radiographs revealed a well-defined subcutaneous calcifying lesion without bony destruction, suggesting a benign calcification process. Computed tomography and magnetic resonance imaging led to a diagnosis of acute calcific periarthritis of the proximal interphalangeal joint of the fifth finger. INTERVENTIONS: An excisional biopsy was recommended to achieve a definitive diagnosis, but this was declined by the patient. Thus, no invasive treatments were administered, and she was treated with analgesics and encouraged to massage the affected finger. OUTCOMES: The pain gradually improved, and follow-up radiographs showed complete disappearance of the calcifying mass 6 months after the initial visit to our hospital, without recurrence during a follow-up period of more than 2 years. LESSONS: Acute calcific periarthritis is diagnosed based on history, clinical examination, and imaging findings, which provide evidence for the diagnosis of calcium deposition in the digits even if the lesions have been present for a long time. Watchful observation is an appropriate treatment strategy for acute calcific periarthritis of the digits.


Assuntos
Calcinose/patologia , Periartrite/patologia , Doença Aguda , Idoso , Feminino , Articulações dos Dedos/patologia , Falanges dos Dedos da Mão/patologia , Humanos
8.
Dermatol Online J ; 26(6)2020 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-32815688

RESUMO

Calcinosis cutis, although common in systemic sclerosis, has been rarely reported in patients with morphea. We describe four patients with calcinosis cutis arising within morphea plaques, discuss their treatments and outcomes, and review previously published cases. Current management recommendations for concomitant morphea and dystrophic calcinosis cutis are based on limited data and expert opinion, which has primarily focused on reduction of active inflammation and reduction of symptoms related to calcinosis or ulceration. In most cases, no improvement of calcinosis was noted. The use of intralesional corticosteroids to active lesions in conjunction with systemic treatment, including methotrexate when indicated, appear promising treatments to halt progression of the disease. Surgical excision seems to be the most definitive treatment for calcinosis affecting morphea plaques, but the current literature lacks details regarding disease recurrence following operative management.


Assuntos
Calcinose/etiologia , Esclerodermia Localizada/complicações , Dermatopatias/patologia , Pele/patologia , Corticosteroides/uso terapêutico , Calcinose/patologia , Calcinose/cirurgia , Criança , Feminino , Humanos , Injeções Intralesionais , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Esclerodermia Localizada/tratamento farmacológico , Esclerodermia Localizada/patologia , Dermatopatias/terapia
9.
Eur. j. anat ; 24(4): 289-291, jul. 2020. ilus
Artigo em Inglês | IBECS | ID: ibc-193964

RESUMO

Meniscal ossicles are small fragments of cancellous bone containing bone marrow surrounded by meniscal cartilage. Two cases of meniscal ossicle are reported, one found during routine dissection of the knee joint and the other as an incidental finding on magnetic resonance imaging (MRI). It is a rare entity and is usually located in the posterior horn of the medial meniscus. Cases have been reported since the 1930s in imaging methods. Its association with meniscal tear is common, as it occurred in the reported case. Its origin is discussed, proposing that they may represent vestigial remnants of development or that they have a post-traumatic origin. They are usually asymptomatic, being an exceptional cause of knee pain. MRI is the method of choice for its evaluation, allowing to distinguish a meniscal ossicle from other intra-articular entities, such as a free body or an intrameniscal calcification. A review of the literature is also presented


No disponible


Assuntos
Humanos , Masculino , Idoso de 80 Anos ou mais , Cadáver , Meniscos Tibiais/anatomia & histologia , Lesões do Menisco Tibial/diagnóstico por imagem , Joelho/anatomia & histologia , Traumatismos do Joelho/diagnóstico por imagem , Calcinose/patologia , Osteoartrite/diagnóstico por imagem , Osteoartrite/etiologia , Espectroscopia de Ressonância Magnética
10.
S Afr Med J ; 110(2): 118-122, 2020 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-32657681

RESUMO

BACKGROUND: Data on the association between HIV and breast cancer mammographic patterns and histological subtypes are limited. OBJECTIVES: To determine whether specific mammographic findings, histological features and patient profiles were unique to a cohort of HIV-positive patients who developed breast cancer, by comparing them with a HIV-negative cohort. METHODS: This was a descriptive study in which we conducted a retrospective chart review and mammographic and pathology analysis of newly diagnosed breast cancer patients referred to the Addington Hospital breast clinic between August 2008 and June 2012 and entered into a prospective database. RESULTS: Thirty-eight HIV-positive and 38 HIV-negative patients were included in the study. HIV-positive patients were more likely to have multifocal breast cancer (p=0.007), but not multicentric disease (p=0.05). The presence of grouped and fine pleomorphic microcalcifications and positive HIV status demonstrated statistical significance (p=0.000). A statistically significant relationship between grouped and fine pleomorphic microcalcifications with biopsies confirming high-grade ductal carcinoma in situ (HGDCIS) and HIV status was demonstrated (p=0.001). The mean age of the HIV-positive patients was 42.5 years (p=0.000). CONCLUSIONS: We demonstrated a statistically significant relationship between HIV status, the presence of multifocal breast cancer, and mammographically detected grouped and fine pleomorphic microcalcifications. A statistically significant relationship between HGDCIS and HIV status, and the presence of grouped and fine pleomorphic microcalcifications in HIV-positive patients with biopsies confirming HGDCIS, was demonstrated. Our study also showed that there is a relationship between age of presentation and HIV status.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Carcinoma Intraductal não Infiltrante/diagnóstico por imagem , Infecções por HIV/epidemiologia , Mamografia/métodos , Adulto , Fatores Etários , Biópsia , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Calcinose/patologia , Carcinoma Intraductal não Infiltrante/epidemiologia , Carcinoma Intraductal não Infiltrante/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos
11.
Medicine (Baltimore) ; 99(28): e20847, 2020 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-32664078

RESUMO

High-grade ductal carcinoma in situ (DCIS) requires resection due to the high risk of developing invasive breast cancer. The predictive powers of noninvasive predictors for high-grade DCIS remain contradictory. This study aimed to explore the predictive value of calcification for high-grade DCIS in Chinese patients.This was a retrospective study of Chinese DCIS patients recruited from the Women's Hospital, School of Medicine, Zhejiang University between January and December 2018. The patients were divided into calcification and non-calcification groups based on the mammography results. The correlation of calcification with the pathologic stage of DCIS was evaluated using the multivariable analysis. The predictive value of calcification for DCIS grading was examined using the receiver operating characteristics (ROC) curve.The pathologic grade of DCIS was not associated with calcification morphology (P = .902), calcification distribution (P = .252), or breast density (P = .188). The multivariable analysis showed that the presence of calcification was independently associated with high pathologic grade of DCIS (OR = 3.206, 95% CI = 1.315-7.817, P = .010), whereas the age, hypertension, menopause, and mammography BI-RADS were not (all P > .05) associated with the grade of DCIS. The ROC analysis of the predictive value of calcification for DCIS grading showed that the area under the curve was 0.626 (P = .019), with a sensitivity of 73.1%, specificity of 52.2%, positive predictive value of 72.2%, and negative predictive value of 53.3%.The presence of calcification is independently associated with high pathologic grade of DCIS and could predict high-grade DCIS in Chinese patients.


Assuntos
Neoplasias da Mama/patologia , Calcinose/patologia , Carcinoma Intraductal não Infiltrante/patologia , Gradação de Tumores/métodos , Adulto , Fatores Etários , Grupo com Ancestrais do Continente Asiático/etnologia , Neoplasias da Mama/diagnóstico por imagem , Calcinose/classificação , Carcinoma Intraductal não Infiltrante/etnologia , Feminino , Humanos , Hipertensão/epidemiologia , Mamografia/métodos , Menopausa/fisiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
12.
PLoS Genet ; 16(7): e1008884, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32639996

RESUMO

The membrane protein ANKH was known to prevent pathological mineralization of joints and was thought to export pyrophosphate (PPi) from cells. This did not explain, however, the presence of ANKH in tissues, such as brain, blood vessels and muscle. We now report that in cultured cells ANKH exports ATP, rather than PPi, and, unexpectedly, also citrate as a prominent metabolite. The extracellular ATP is rapidly converted into PPi, explaining the role of ANKH in preventing ankylosis. Mice lacking functional Ank (Ankank/ank mice) had plasma citrate concentrations that were 65% lower than those detected in wild type control animals. Consequently, citrate excretion via the urine was substantially reduced in Ankank/ank mice. Citrate was even undetectable in the urine of a human patient lacking functional ANKH. The hydroxyapatite of Ankank/ank mice contained dramatically reduced levels of both, citrate and PPi and displayed diminished strength. Our results show that ANKH is a critical contributor to extracellular citrate and PPi homeostasis and profoundly affects bone matrix composition and, consequently, bone quality.


Assuntos
Osso e Ossos/metabolismo , Calcinose/genética , Ácido Cítrico/metabolismo , Proteínas de Transporte de Fosfato/genética , Trifosfato de Adenosina/metabolismo , Animais , Desenvolvimento Ósseo/genética , Calcinose/metabolismo , Calcinose/patologia , Diferenciação Celular , Células Cultivadas , Difosfatos/metabolismo , Humanos , Fenômenos Mecânicos , Camundongos , Mutação/genética , Proteínas de Transporte de Fosfato/metabolismo
13.
J Ayub Med Coll Abbottabad ; 32(2): 280-282, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32584012

RESUMO

Fahr's disease is a rare disease in which there is symmetrical bilateral intracranial calcification. We are presenting a 50-year-old female patient who presented with status epilepticus. She had history of generalized tonic clonic fits for the last fifteen years. Her CT scan revealed widespread bilateral and symmetrical intracranial calcification in cerebellum, thalamus, basal ganglia and in white matter of the cerebral hemisphere Most of the secondary causes were ruled out to make the clinical diagnosis of Fahr's disease.


Assuntos
Doenças dos Gânglios da Base , Calcinose , Doenças Neurodegenerativas , Estado Epiléptico/etiologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Calcinose/diagnóstico por imagem , Calcinose/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
14.
J Neuropathol Exp Neurol ; 79(7): 767-776, 2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32483612

RESUMO

Intracranial calcifications (ICC) are the most common neuropathological finding in the brains of children exposed in utero to the Zika virus (ZIKV). Using a mouse model of developmental ZIKV infection, we reported widespread calcifications in the brains of susceptible mice that correlated in multiple ways with the behavioral deficits observed. Here, we examined the time course of ICC development and the role of iron deposition in this process, in 3 genetically distinct inbred strains of mice. Brain iron deposits were evident by Perls' staining at 2 weeks post infection, becoming increasingly dense and coinciding with calcium buildup and the formation of ICCs. A regional analysis of the brains of susceptible mice (C57BL/6J and 129S1/SvImJ strains) revealed the presence of iron initially in regions containing many ZIKV-immunoreactive cells, but then spreading to regions containing few infected cells, most notably the thalamus and the fasciculus retroflexus. Microglial activation was widespread initially and later delineated the sites of ICC formation. Behavioral tests conducted at 5-6 weeks of age revealed greater deficits in mice with the most extensive iron deposition and calcification of subcortical regions, such as thalamus. These findings point to iron deposition as a key factor in the development of ICCs after developmental ZIKV infection.


Assuntos
Encéfalo/metabolismo , Calcinose/metabolismo , Ferro/metabolismo , Infecção por Zika virus/metabolismo , Zika virus , Animais , Encéfalo/patologia , Calcinose/patologia , Feminino , Masculino , Camundongos , Camundongos da Linhagem 129 , Camundongos Endogâmicos C57BL , Zika virus/isolamento & purificação , Infecção por Zika virus/patologia
15.
Am Heart J ; 225: 138-148, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32502877

RESUMO

BACKGROUND: Compared to high gradient aortic stenosis (AS), patients with low-flow, low-gradient AS have higher mortality after transcatheter aortic valve replacement (TAVR), but distinct outcome predictors in this patient subset are yet to be determined. The present study investigated the prognostic impact of aortic valve calcification (AVC) in patients with low-flow, low-gradient AS undergoing TAVR. METHODS: This retrospective single-center analysis includes all patients undergoing TAVR for severe low-flow, low-gradient AS (n = 526), ie, low EF low gradient AS (LEF-LG AS; n = 290) and paradoxical low-flow, low-gradient AS (PLF-LG AS; n = 236), in whom AVC was quantified from contrast-enhanced multislice computed tomography images. AVCdensity was defined as calcium volume per annulus area. Patients were trichotomized according to sex-specific AVCdensity tertiles in both subgroups. All-cause mortality was assessed by Kaplan-Meier analyses and independent outcome predictors were determined by multivariable analyses. RESULTS: In both subgroups, patients with high AVCdensity had higher mean transvalvular gradients at baseline and higher rates of PVL after TAVR. High AVCdensity was associated with lowest 1- and 3-year mortality after TAVR in the LEF-LG AS but not in the PLF-LG AS group. According to multivariable analysis AVCdensity was independently associated with better survival in LEF-LG AS patients (HR 0.73 [0.60-0.88], P = .0011), but not in those with PLF-LG AS (HR 0.91 [0.73-1.14], P = .42). CONCLUSIONS: Quantification of AVC may not only be of diagnostic but also of prognostic value, as it facilitates the selection of LEF-LG AS patients with higher probability of beneficial outcome after TAVR.


Assuntos
Estenose da Valva Aórtica/cirurgia , Valva Aórtica/patologia , Calcinose/classificação , Substituição da Valva Aórtica Transcateter , Idoso , Idoso de 80 Anos ou mais , Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/mortalidade , Estenose da Valva Aórtica/fisiopatologia , Calcinose/diagnóstico por imagem , Calcinose/patologia , Calcinose/fisiopatologia , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença , Volume Sistólico
16.
Prog Cardiovasc Dis ; 63(4): 496-502, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32526213

RESUMO

Calcific aortic valve stenosis (AS) is the most common form of acquired valvular heart disease needing intervention and our understanding of this disease has evolved from one of degenerative calcification to that of an active process driven by the interplay of genetic factors and chronic inflammation modulated by risk factors such as smoking, hypertension and elevated cholesterol. Lipoprotein(a) [Lp (a)] is a cholesterol rich particle secreted by the liver which functions as the major lipoprotein carrier of phosphocholine-containing oxidized phospholipids. Lp(a) levels are largely genetically determined by polymorphisms in the LPA gene. While there is an extensive body of evidence linking Lp(a) to atherosclerotic cardiovascular disease, emerging evidence now suggests a similar association of Lp(a) to calcific AS. In this article, we performed a systematic review of all published literature to assess the association between Lp(a) and calcific aortic valve (AV) disease. In addition, we review the potential mechanisms by which Lp(a) influences the progression of valve disease. Our review identified a total of 21 studies, varying from case-control studies, prospective or retrospective observational cohort studies to Mendelian randomized studies that assessed the association between Lp(a) and calcific AS. All but one of the above studies demonstrated significant association between elevated Lp(a) and calcific AS. We conclude that there is convincing evidence supporting a causal association between elevated Lp(a) and calcific AS. In addition, elevated Lp(a) predicts a faster hemodynamic progression of AS, and increased risk of AV replacement, especially in younger patients. Further research into the clinical utility of Lp(a) as a marker for predicting the incidence, progression, and outcomes of sclerodegenerative AV disease is needed.


Assuntos
Estenose da Valva Aórtica/sangue , Estenose da Valva Aórtica/epidemiologia , Valva Aórtica/patologia , Calcinose/sangue , Calcinose/epidemiologia , Lipoproteína(a)/sangue , Estenose da Valva Aórtica/patologia , Calcinose/patologia , Humanos
17.
Ann Biol Clin (Paris) ; 78(4): 349-362, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32540796

RESUMO

The prevalence of crystalline pathologies including urolithiasis, gallstones, vascular calcifications and crystalline arthritis, is very high in the general population beyond 60 years old. Characterization of microcrystals in tissue at the micrometer and at the nanometer scale through physico-chemical techniques constitutes a new opportunity for the physician to decipher the early stage of the pathogenesis of these biological entities. In this review, such description indicates a wide variety of the chemical process associated to the nucleation process directly from supersaturated solution or from organic support such as DNA or elastin. We will also discuss the case of vesicles which play a major role in the case of ectopic calcification situated in kidney tissue, namely the Randall's plaque. All this research focused on the very first steps of the genesis of pathological calcifications constitute a major step to develop specific therapy able to avoid the formation of these abnormal deposits in tissues. As already underlined, crystals may be the consequence of various pathologies, but they are also involved in the dysfunction of the tissues.


Assuntos
Calcinose/etiologia , Cristalização , Litíase/etiologia , Calcinose/metabolismo , Calcinose/patologia , Humanos , Cálculos Renais/etiologia , Cálculos Renais/metabolismo , Cálculos Renais/patologia , Litíase/metabolismo , Litíase/patologia , Urolitíase/etiologia , Urolitíase/metabolismo , Urolitíase/patologia , Calcificação Vascular/etiologia , Calcificação Vascular/metabolismo , Calcificação Vascular/patologia
19.
Am J Hum Genet ; 106(5): 694-706, 2020 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-32359472

RESUMO

How mutations in the non-coding U8 snoRNA cause the neurological disorder leukoencephalopathy with calcifications and cysts (LCC) is poorly understood. Here, we report the generation of a mutant U8 animal model for interrogating LCC-associated pathology. Mutant U8 zebrafish exhibit defective central nervous system development, a disturbance of ribosomal RNA (rRNA) biogenesis and tp53 activation, which monitors ribosome biogenesis. Further, we demonstrate that fibroblasts from individuals with LCC are defective in rRNA processing. Human precursor-U8 (pre-U8) containing a 3' extension rescued mutant U8 zebrafish, and this result indicates conserved biological function. Analysis of LCC-associated U8 mutations in zebrafish revealed that one null and one functional allele contribute to LCC. We show that mutations in three nucleotides at the 5' end of pre-U8 alter the processing of the 3' extension, and we identify a previously unknown base-pairing interaction between the 5' end and the 3' extension of human pre-U8. Indeed, LCC-associated mutations in any one of seven nucleotides in the 5' end and 3' extension alter the processing of pre-U8, and these mutations are present on a single allele in almost all individuals with LCC identified to date. Given genetic data indicating that bi-allelic null U8 alleles are likely incompatible with human development, and that LCC is not caused by haploinsufficiency, the identification of hypomorphic misprocessing mutations that mediate viable embryogenesis furthers our understanding of LCC molecular pathology and cerebral vascular homeostasis.


Assuntos
Alelos , Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Cistos/genética , Leucoencefalopatias/genética , Mutação , RNA Nucleolar Pequeno/genética , Peixe-Zebra/genética , Animais , Sequência de Bases , Calcinose/patologia , Cistos do Sistema Nervoso Central/patologia , Sequência Conservada , Modelos Animais de Doenças , Desenvolvimento Embrionário/genética , Humanos , Leucoencefalopatias/patologia , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Peixe-Zebra/embriologia , Proteínas de Peixe-Zebra/genética , Proteínas de Peixe-Zebra/metabolismo
20.
Sci Rep ; 10(1): 8545, 2020 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-32444654

RESUMO

Vascular calcification occurs in various diseases including atherosclerosis, chronic kidney disease and type 2 diabetes but the mechanism underlying mineral deposition remains incompletely understood. Here we examined lower limb arteries of type 2 diabetes subjects for the presence of ectopic calcification and mineral particles using histology, electron microscopy and spectroscopy analyses. While arteries of healthy controls showed no calcification following von Kossa staining, arteries from 83% of diabetic individuals examined (19/23) revealed microscopic mineral deposits, mainly within the tunica media. Mineralo-organic particles containing calcium phosphate and proteins such as albumin, fetuin-A and apolipoprotein-A1 were detected in calcified arteries. Ectopic calcification and mineralo-organic particles were observed in a majority of diabetic patients and predominantly in arteries showing hyperplasia. While a low number of subjects was examined and information about disease severity and patient characteristics is lacking, these calcifications and mineralo-organic particles may represent signs of tissue dysfunction.


Assuntos
Artérias/patologia , Arteriosclerose/patologia , Calcinose/patologia , Diabetes Mellitus Tipo 2/fisiopatologia , Minerais/metabolismo , Compostos Orgânicos/metabolismo , Artérias/metabolismo , Arteriosclerose/metabolismo , Calcinose/metabolismo , Fosfatos de Cálcio/metabolismo , Estudos de Casos e Controles , Humanos , Minerais/química , Compostos Orgânicos/química
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