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1.
Hypophosphatasia: A Unique Disorder of Bone Mineralization.
Villa-Suárez, JM, García-Fontana, C, Andújar-Vera, F, González-Salvatierra, S, de Haro-Muñoz, T, Contreras-Bolívar, V, García-Fontana, B, Muñoz-Torres, M
International journal of molecular sciences. 2021;(9)
Abstract
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5'-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.
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Imaging of calcific tendinopathy around the shoulder: usual and unusual presentations and common pitfalls.
Albano, D, Coppola, A, Gitto, S, Rapisarda, S, Messina, C, Sconfienza, LM
La Radiologia medica. 2021;(4):608-619
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Abstract
Rotator cuff calcific tendinopathy (RCCT) is a very common condition, characterized by calcium deposition over fibrocartilaginous metaplasia of tenocytes, mainly occurring in the supraspinatus tendon. RCCT has a typical imaging presentation: in most cases, calcific deposits appear as a dense opacity around the humeral head on conventional radiography, as hyperechoic foci with or without acoustic shadow at ultrasound and as a signal void at magnetic resonance imaging. However, radiologists have to keep in mind the possible unusual presentations of RCCT and the key imaging features to correctly differentiate RCCT from other RC conditions, such as calcific enthesopathy or RC tears. Other presentations of RCCT to be considered are intrabursal, intraosseous, and intramuscular migration of calcific deposits that may mimic infectious processes or malignancies. While intrabursal and intraosseous migration are quite common, intramuscular migration is an unusual evolution of RCCT. It is important also to know atypical regions affected by calcific tendinopathy as biceps brachii, pectoralis major, and deltoid tendons. Unusual presentations of RCCT may lead to diagnostic challenge and mistakes. The aim of this review is to illustrate the usual and unusual imaging findings of RCCT that radiologists should know to reach the correct diagnosis and to exclude other entities with the purpose of preventing further unnecessary imaging examinations or interventional procedures.
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3.
Microscopic Characteristics of Late Intraocular Lens Opacifications.
Kanclerz, P, Yildirim, TM, Khoramnia, R
Archives of pathology & laboratory medicine. 2021;(6):759-767
Abstract
CONTEXT.—: The increases in overall life expectancy and in lens surgeries performed on younger patients have resulted in a significant increase in the anticipated duration of artificial intraocular lenses (IOLs) in the eye. Thus, the physicochemical properties of the IOL become a critical issue, and several types of postoperative IOL opacifications have been reported. OBJECTIVE.—: To describe the microscopic characteristics of opacified IOLs. Glistenings and subsurface nanoglistenings are fluid-related phenomena developing mainly in hydrophobic acrylic IOLs and are associated with aqueous influx into the IOL matrix. Calcification presents in hydrophilic acrylic or silicone IOLs as deposits of hydroxyapatite or other phases of calcium. Snowflake degeneration is less common, and it manifests in older polymethyl methacrylate IOLs. DATA SOURCES.—: PubMed and ScienceDirect databases were searched for the following keywords: intraocular lens, IOL, cataract surgery, phacoemulsification, opacification, glistening, subsurface nanoglistenings, calcification, snowflake degeneration. English-language articles published up to October 15, 2019 were included in the study. The manuscript contains mainly a literature review; however, it was supplemented with original investigations from the David J. Apple International Laboratory for Ocular Pathology. CONCLUSIONS.—: Glistenings and subsurface nanoglistenings should be evaluated in a hydrated state and at room temperature; they manifest as microvacuoles sized from 1.0 to greater than 25.0 μm and less than 200 nm, respectively. Calcification deposits are situated on or underneath the surface of the IOL and can be stained with a 1% alizarin red solution or with the von Kossa method. Snowflake degeneration manifests as "particles" or "crystals," causing whitish IOL discoloration. Scanning electron microscopy or energy dispersive X-ray spectroscopy may improve the diagnostic accuracy.
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4.
Detecting native and bioprosthetic aortic valve disease using 18F-sodium fluoride: Clinical implications.
Fletcher, AJ, Dweck, MR
Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology. 2021;(2):481-491
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Abstract
Calcific aortic valve disease is the most common valvular disease and confers significant morbidity and mortality. There are currently no medical therapies that successfully halt or reverse the disease progression, making surgical replacement the only treatment currently available. The majority of patients will receive a bioprosthetic valve, which themselves are prone to degeneration and may also need replaced, adding to the already substantial healthcare burden of aortic stenosis. Echocardiography and computed tomography can identify late-stage manifestations of the disease process affecting native and bioprosthetic aortic valves but cannot detect or quantify early molecular changes. 18F-fluoride positron emission tomography, on the other hand, can non-invasively and sensitively assess disease activity in the valves. The current review outlines the pivotal role this novel molecular imaging technique has played in improving our understanding of native and bioprosthetic aortic valve disease, as well as providing insights into its feasibility as an important future research and clinical tool.
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Acute calcific periarthritis of the proximal phalangeal joint on the fifth finger: A case report and literature review.
Tomori, Y, Nanno, M, Takai, S
Medicine. 2020;(31):e21477
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Abstract
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.
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The First Report of Calcified Amorphous Tumor Associated with Infective Endocarditis: A Case Report and Review of Literature.
Okazaki, A, Oyama, Y, Hosokawa, N, Ban, H, Miyaji, Y, Moody, S
The American journal of case reports. 2020;:e922960
Abstract
BACKGROUND Calcified amorphous tumor (CAT) of the heart is a rare non-neoplastic intracardiac mass, which is composed of calcium deposition surrounded by amorphous fibrous tissue. The clinical presentation of cardiac CAT resembles that of other cardiac tumors or vegetation, though there is no previous report of a CAT complicated with infective endocarditis. CASE REPORT A 67-year-old male with a history of end stage renal failure and gastric cancer who was on adjuvant chemotherapy presented with a cardiac mass. The mass was resected and diagnosed as CAT pathologically. Two separate sets of blood cultures were positive for Enterococcus faecalis, thus, the patient was diagnosed with infective endocarditis. Antibiotic treatment was continued for 6 weeks after surgery, and the patient recovered uneventfully. However, he died from a complication of his gastric cancer 5 months later. CONCLUSIONS This is the first report of CAT associated with infective endocarditis. Blood cultures should be obtained to differentiate infective endocarditis or CAT with infectious endocarditis from CAT alone, because CAT with infective endocarditis may present atypically and may be more likely to require antibiotic treatment along with surgery.
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Molecular Aspects and Prognostic Significance of Microcalcifications in Human Pathology: A Narrative Review.
Bonfiglio, R, Granaglia, A, Giocondo, R, Scimeca, M, Bonanno, E
International journal of molecular sciences. 2020;(1)
Abstract
The presence of calcium deposits in human lesions is largely used as imaging biomarkers of human diseases such as breast cancer. Indeed, the presence of micro- or macrocalcifications is frequently associated with the development of both benign and malignant lesions. Nevertheless, the molecular mechanisms involved in the formation of these calcium deposits, as well as the prognostic significance of their presence in human tissues, have not been completely elucidated. Therefore, a better characterization of the biological process related to the formation of calcifications in different tissues and organs, as well as the understanding of the prognostic significance of the presence of these calcium deposits into human tissues could significantly improve the management of patients characterized by microcalcifications associated lesions. Starting from these considerations, this narrative review highlights the most recent histopathological and molecular data concerning the formation of calcifications in breast, thyroid, lung, and ovarian diseases. Evidence reported here could deeply change the current point of view concerning the role of ectopic calcifications in the progression of human diseases and also in the patients' management. In fact, the presence of calcifications can suggest an unfavorable prognosis due to dysregulation of normal tissues homeostasis.
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The interplay between mineral metabolism, vascular calcification and inflammation in Chronic Kidney Disease (CKD): challenging old concepts with new facts.
Viegas, C, Araújo, N, Marreiros, C, Simes, D
Aging. 2019;(12):4274-4299
Abstract
Chronic kidney disease (CKD) is one of the most powerful predictors of premature cardiovascular disease (CVD), with heightened susceptibility to vascular intimal and medial calcification associated with a high cardiovascular mortality. Abnormal mineral metabolism of calcium (Ca) and phosphate (P) and underlying (dys)regulated hormonal control in CKD-mineral and bone disorder (MBD) is often accompanied by bone loss and increased vascular calcification (VC). While VC is known to be a multifactorial process and a major risk factor for CVD, the view of primary triggers and molecular mechanisms complexity has been shifting with novel scientific knowledge over the last years. In this review we highlight the importance of calcium-phosphate (CaP) mineral crystals in VC with an integrated view over the complexity of CKD, while discuss past and recent literature aiming to highlight novel horizons on this major health burden. Exacerbated VC in CKD patients might result from several interconnected mechanisms involving abnormal mineral metabolism, dysregulation of endogenous calcification inhibitors and inflammatory pathways, which function in a feedback loop driving disease progression and cardiovascular outcomes. We propose that novel approaches targeting simultaneously VC and inflammation might represent valuable new prognostic tools and targets for therapeutics and management of cardiovascular risk in the CKD population.
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[Symmetrical and bilateral basal ganglia calcification. Case series and literature review].
Jiménez-Ruiz, A, Cárdenas-Sáenz, O, Ruiz-Sandoval, JL
Gaceta medica de Mexico. 2018;(2):258-262
Abstract
INTRODUCTION Symmetric, bilateral basal ganglia calcification is rare finding that sometimes occurs asymptomatically. Its prevalence increases with age, and the most affected site is the globus pallidus. REPORT OF CASES A series of seven cases with clinical and imaging diagnosis of basal ganglia calcification, recorded during the 2012 to 2016 period at the Department of Internal Medicine of the Hospital Civil de Guadalajara "Fray Antonio Alcalde, is presented. Most common clinical presentation was with altered alertness, headache and seizures. There was one case with movement disorders; there were no cases identified with dementia or tetany. CONCLUSION Ganglia calcification can be associated with age-related neurodegenerative changes, but it can be an initial manifestation of a variety of systemic pathologies, including disorders of the calcium metabolism, intoxication by different agents, and autoimmune and genetic diseases. Correlation of typical imaging findings with clinical manifestations and laboratory results should be established to reach a definitive judgment.
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10.
Calcification of the heart: mechanisms and therapeutic avenues.
Shekar, C, Budoff, M
Expert review of cardiovascular therapy. 2018;(7):527-536
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Coronary artery calcification (CAC) is reflective of atherosclerotic disease and incrementally predictive of future cardiovascular events (CVE), independent of traditional risk factors. Extra coronary calcium such as aortic valve calcification, which can be identified and quantified by computed tomography (CT) imaging, has shown to predict future CVE in both asymptomatic and symptomatic (i.e. stable angina and acute coronary syndrome [ACS]) settings. It has hence been a vital tool in studies involving new therapies for cardiovascular disease. Areas covered: In this review, promising therapies on the horizon are reviewed, along with the role of cardiac CT and coronary calcification in these studies. A Medline search for peer-reviewed publications using keywords related to coronary calcium score, aortic valve calcium, and therapies targeting the same was carried out. Expert commentary: CT scanning provides a distinct means of detecting and quantifying coronary plaque as well as valvular calcification with excellent reproducibility. Based on voluminous data available, the absence of coronary calcium serves as a factor to de-risk patients for cardiovascular risk stratification and management algorithms. Newer therapies have shown to lower progression of coronary calcification, thus being beneficial in slowing progression of atherosclerotic disease. As British Epidemiologist Geoffrey Rose states, the best predictor of a life-threatening disease is the early manifestation of that disease. As CAC represents the early manifestation of atherosclerosis, it is the best-known stratifier of risk today, and its clinical use will continue to rise.