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1.  Localised pulmonary metastatic calcification associated with pulmonary artery obstruction. 
Thorax  1992;47(3):174-178.
BACKGROUND: Metastatic pulmonary calcification, a complication of uraemia and disordered calcium metabolism, may be diffuse or localised. The factors that determine calcium precipitation are complex, but tissue alkalosis is thought to be important. As obstruction of the pulmonary artery theoretically causes local alkalosis a retrospective necropsy study was carried out to examine the relation between metastatic pulmonary calcification and vascular obstruction. METHODS: Five patients with focal and two with diffuse metastatic calcification in the lungs were identified over eight years. Lungs were studied macroscopically and by light microscopy, haematoxylin and eosin and histochemical stains being used for calcium. RESULTS: Underlying risk factors for calcification in these patients included renal failure in six and disseminated malignancy in five. In the five patients with localised calcification obstruction of the pulmonary artery by thrombus or tumour was found proximal or adjacent to areas of calcium deposition. In two patients metastatic calcification was confined to a lung with unilateral pulmonary artery thromboembolic occlusion. Calcification was not specifically associated with infarction, pneumonia, or diffuse alveolar damage. Lesions of the pulmonary artery were not seen in the two patients with diffuse bilateral metastatic calcification. CONCLUSION: In this small series there was a spatial association between pulmonary artery obstruction and localised metastatic calcification. It is proposed that pulmonary artery obstruction alters the microchemical environment of the lung, favouring tissue alkalosis and thereby enhancing parenchymal calcification in patients predisposed to this condition.
PMCID: PMC1021006  PMID: 1519194
2.  Myocardial fibre calcification. 
Journal of Clinical Pathology  1981;34(10):1167-1174.
Three cases of myocardial fibre calcification found at post-mortem examination are described. In one case there was antemortem hypercalcaemia and hyperphosphataemia and the case was clearly an example of metastatic calcification. In the other two cases there was ischaemic myocardial necrosis and calcification was seen in fibres which were not overtly necrotic, but which were both in proximity to (the majority) and remote from the necrotic zones. Since renal failure with hyperphosphataemia was present in both cases, these were considered to be examples of augmented (by the hyperphosphataemia) dystrophic calcification. The histological, histochemical and ultrastructural features were identical in the three cases. Hydroxyapatite formation was observed initially in mitochondria, followed by spillage of crystals into the cytosol and ultimately into the interstitium. It is suggested that the fundamental lesion is a dysfunction of the fibre membrane; the similarity of this reaction with the calcification seen in skeletal muscle fibres in various myopathies is noted and a unifying hypothesis of the mechanism of skeletal and cardiac muscle fibre calcification is thereby suggested.
PMCID: PMC494384  PMID: 7309897
3.  Transient severe metastatic calcification in acute renal failure 
Metastatic calcification, a known complication of prolonged end-stage renal disease, is herein described for the first time in a 10-month-old boy with acute renal failure, manifesting as a painful and swollen arm. Imaging revealed diffuse calcification and technetium-99 methylene diphosphonate (99Tc-MDP) uptake around the humerus and axilla. Calcium and vitamin D restriction, followed by intravenous administration of sodium thiosulfate caused a full symptomatic, radio- and scintigraphic improvement.
PMCID: PMC1805049  PMID: 17186278
Hemolytic uremic syndrome; Calcific uremic arteriolopathy; Sodium thiosulfate; Radionuclide imaging; Peritoneal dialysis; Alfacalcidol
4.  Heart Failure Associated with Metastatic Myocardial Calcification in a Hemodialysis Patient with Progressive Calcification of the Hand 
Cardiorenal Medicine  2012;2(4):251-255.
Metastatic myocardial calcification is a frequent cause of heart failure in hemodialysis patients. However, early detection is difficult, often resulting in a poor prognosis. A 47-year-old man with hemodialysis-dependent end-stage renal disease presented with progressive dyspnea. Levels of serum phosphate, calcium, and intact parathyroid hormone were poorly controlled. He developed pain in his right thumb 1 year before presentation, and the pain gradually increased and extended to the entire right hand. Hand radiography 1 month earlier had revealed significant progressive calcification. Echocardiography showed severe, diffuse hypokinesis and pericardial effusion as well as possible anterior myocardial calcification with high echogenicity. Chest computed tomography revealed a severely dilated heart with anterior massive myocardial calcification and a large amount of pericardial effusion, which was not detected on computed tomography performed 20 months earlier. The patient was diagnosed with heart failure associated with metastatic myocardial calcification and died suddenly 2 weeks later. This experience suggests that progressive metastatic calcification of the skin and subcutaneous tissue is useful for predicting myocardial calcification.
PMCID: PMC3551417  PMID: 23380932
Cardiovascular disease; Hemodialysis/continuous renal replacement therapy; Mineral bone metabolism; Metastatic calcification; Heart failure; Hyperparathyroidism; Myocardium; Hand; Computed tomography
5.  Limbal and corneal calcification in patients with chronic renal failure. 
In patients with chronic renal failure on regular dialysis treatment, limboconjunctival degenerations and calcifications are commonly observed. In this study three groups of patients were followed over a period of 6 years. The first group consisted of 47 patients with renal failure, the second group of 17 patients with renal failure and hyperparathyroidism not controlled by drugs, and the third group seven patients with primary hyperparathyroidism without renal failure. The aim of this study was to determine the progression of the limboconjunctival changes over time. The hypothesis that an increase in serum calcium and phosphorus concentrations, as a result of tertiary hyperparathyroidism, could possibly add a corneal component to the limbal calcification was also tested. All patients with renal failure (in as much as the degenerative limbal features were not obscured by deposits of lime salts), had a type II white limbus girdle of Vogt. This limbal degeneration was observed in only 45% of controls. In all 47 patients with renal failure conjunctival calcification was observed; 26 of them also had limbal calcification. After 6 years 41 patients had developed limbal calcification. This progression was statistically significant. In 15 out of 17 patients with tertiary hyperparathyroidism a band-shaped keratopathy developed in addition to the limboconjunctival calcification.
PMCID: PMC513953  PMID: 8218054
6.  The incidence of renal calcification in preterm infants. 
Archives of Disease in Childhood  1991;66(4 Spec No):412-417.
A total of 79 infants born at less than 32 weeks' gestation were studied with serial renal ultrasound scans to assess the incidence of nephrocalcinosis. Twenty one infants developed renal calcification giving an overall incidence of 26.6% in the study group. Affected infants were significantly smaller (mean (SD) birth weight 940 (323) g) and significantly less mature (mean (SD) gestation 26.9 (1.9) weeks). In 17 patients the calcification was represented by hyperechogenic renal pyramids alone, and in four patients renal calculi were demonstrated. Factors associated with renal calcification included hypophosphataemia, hypercalcaemia, hypercreatininaemia, and prolonged oxygen requirement during the first month of life. Multivariate analysis showed that the strongest clinical indicator of calcification was duration of oxygen treatment. Infants who still required oxygen treatment at 28 days had a 62% chance of developing renal calcification.
PMCID: PMC1590294  PMID: 2025034
7.  Pulmonary Calciphylaxis Associated with Acute Respiratory and Renal Failure Due to Cryptogenic Hypercalcemia: An Autopsy Case Report 
Korean Journal of Pathology  2012;46(6):601-605.
Metastatic calcification is rare; it is found during autopsy in patients who underwent hemodialysis. Diffuse calcium precipitation of small and medium-sized cutaneous vessels, known as calciphylaxis, can result in progressive tissue necrosis secondary to vascular calcification. This condition most commonly involves the skin; however, a rare occurrence of visceral calciphylaxis has been reported. Here we report on an autopsy case. Despite a thorough evaluation, and even performing an autopsy, the underlying cause of acute-onset hypercalcemia, resulting in the production of pulmonary calciphylaxis and metastatic renal calcification associated with acute respiratory and renal failure, could not be determined. Metastatic calcification often lacks specific symptoms, and the degree of calcification is a marker of the severity and chronicity of the disease. This unusual autopsy case emphasizes the importance of rapidly progressing visceral calciphylaxis, as well as its early detection.
PMCID: PMC3540341  PMID: 23323114
Calcification; Hypercalcemia; Calciphylaxis
8.  Intermittent Hemodialysis in Terminal Chronic Renal Failure 
Seven patients with chronic renal failure underwent intermittent hemodialysis for five to 37 months (111 patient-months on a twice-weekly basis) employing arteriovenous Teflon-Silastic cannulas and the modified two-layer Kiil hemodialyzer. A single-pass 37° C. dialysate system has been used. One patient died of an indirectly related cause. All other patients have been successfully rehabilitated and now carry on normal activity of moderate sedentary type. Complications included recurring infection and clotting of arteriovenous cannulas. Hypertension and anemia were common complications requiring careful control. Peripheral neuropathy was noted in five of the seven patients but was of clinical significance in only one patient. Metastatic calcification, osteoporosis and urolithiasis also occurred in this patient. Peptic ulcers with hemorrhage developed in two patients. The degree of rehabilitation and psychological adjustment achieved by this group of patients strongly indicates the need for expansion of dialysis facilities and further research into the medical and economic aspects of dialysis.
PMCID: PMC1935324  PMID: 5903169
9.  Metastatic Pulmonary Calcification in Multiple Myeloma in a 45-Year-Old Man 
Case Reports in Pulmonology  2013;2013:341872.
Metastatic calcification has been associated with multiple-myeloma-induced hypercalcemia. Despite of a relatively high prevalence of metastatic pulmonary calcification in patients with multiple myeloma, only a few cases have been clinically and radiologically detected. A 45-year-old Hispanic male presented to the Emergency Department with complaint of worsening weakness and myalgia. Laboratory findings revealed renal insufficiency and hypercalcemia. CT scan of chest revealed calcified pleural and pulmonary nodule. Technetium (Tc) 99 bone scan revealed diffuse activity in the pulmonary parenchyma consistent with metastatic pulmonary calcification. Metastatic pulmonary calcification, despite its high prevalence, remains undetected. This is, in part, due to its radiographic characteristic properties that evade detection by routine imaging studies. We present a case of a metastatic pulmonary calcification in a patient diagnosed with multiple myeloma and chronic kidney disease, as well as a brief literature review including clinical findings and treatment options.
PMCID: PMC3639672  PMID: 23662234
10.  Scleral and choroidal calcifications in a patient with pseudohypoparathyroidism. 
This case report suggests that calcifications in the sclera and choroid may be a feature of pseudohypoparathyroidism and shows a calcium distribution more extensive and severe than that characteristically seen in other metabolic conditions associated with calcium deposits in the eye. Ocular ectopic calcification is a part of the more generalised ectopic soft tissue calcification seen with pseudohypoparathyroidism. Evaluation of the contribution of the terminal renal failure and uraemia to the ectopic ocular calcification would require sequential evaluation of eyes with pseudohypoparathyroidism, but without the added complication of uraemia.
PMCID: PMC1043436  PMID: 435429
11.  Pathological and clinical study of calcification of the mitral valve ring 
Journal of Clinical Pathology  1970;23(4):354-361.
The pathology and clinical features of 258 cases of mitral ring calcification were reviewed. The overall incidence in patients over 50 years of age was 8·5%; it was more than twice as high in women (11·5%) as in men (4·5%) and rose sharply with age.
Cardiac failure and systolic murmurs were each noted in over half the patients. Hypertension was slightly commoner than in age- and sex-matched groups without ring calcification, although the difference was not statistically significant.
Small nodules of calcification were more frequent in men and heavy deposits in women. Distortion and atrial displacement of the posterior mitral cusp was present in 26% of the hearts with early ring calcification, in 56% of the hearts with moderate, and in almost all hearts with marked changes. Systolic murmurs had been heard in 73% of these cases. `Caseation' of the calcified ring was seen in seven hearts and haemorrhagic valvulitis in three. Calcium had ulcerated through the cusp in 12 cases, with thrombotic and/or bacterial endocarditis in five. Aortic valve calcification was present in 36% of men and was quantitatively related to the severity of mitral ring calcification. In women the incidence was 30% and there was no corresponding quantitative relationship.
Microscopy showed nonspecific chronic inflammatory changes adjacent to calcium in about half the cases in both sexes, with foreign body type giant cells in 6%. Similar inflammatory changes in the valve cusp were almost twice as common in women as in men.
There was no evidence that previous endocarditis was responsible for mitral ring calcification, neither did parity influence its incidence. Severe coronary atherosclerosis was unrelated but severe aortic atherosclerosis was commoner in patients with calcified mitral rings. The difference, in women, was statistically significant.
The higher incidence of severe degrees of ring calcification, complications, and valvular inflammation in women suggests a sex-determined difference in tissue response in the mitral area. Possible provoking factors apply to both sexes and both left side valves, and such a difference would account for the relative frequency and sex incidence of mitral ring calcification.
PMCID: PMC476757  PMID: 5430424
12.  Aortic calcification predicts cardiovascular events and all-cause mortality in renal transplantation 
Nephrology Dialysis Transplantation  2009;24(4):1314-1319.
Background. Cardiovascular disease is a leading cause of death among renal transplant recipients. Aortic calcification is associated with increased mortality in dialysis subjects. The significance of aortic calcification among renal transplant recipients is unknown. Our objective was to prospectively examine the association of aortic calcification with cardiovascular events and all-cause mortality among asymptomatic incident renal transplant recipients.
Methods. One hundred and twelve renal transplant recipients underwent electron beam computed tomography. Aortic calcification was scored by the Agatston method. The mean follow-up time was 5.1 years. Cardiovascular events (heart failure, coronary artery disease, peripheral arterial disease and stroke) and all-cause mortality were recorded.
Results. The cohort consisted of 62% Caucasians, 38% African Americans and 62% male gender. The mean age was 49.0 ± 12.5 years. Thirty-four percent had aortic calcification. During follow-up, 12 cardiovascular events and 10 deaths were recorded. Subjects with aortic calcification had more cardiovascular events compared to those without aortic calcification (23.7 versus 4.1%, P = 0.001). Recipients with aortic calcification had higher mortality compared to those without aortic calcification but it did not reach statistical significance (15.8 versus 5.4%, P = 0.07). The univariate hazard ratio of aortic calcification score in a proportional hazard Cox model to assess event-free survival was 1.15 (1.04–1.27, P = 0.01). Diabetes and aortic calcification score were independently associated with survival. In addition to the predictors above, dialysis vintage was an independent predictor for combined future cardiovascular event and mortality.
Conclusions. In conclusion, aortic calcification is prevalent among renal transplant recipients and is predictive of future cardiovascular events. Aortic calcification is easily identified by non-invasive testing, and should be considered when assessing cardiovascular risk in asymptomatic renal transplant recipients.
PMCID: PMC2721431  PMID: 19164320
cardiovascular events; renal transplantation; vascular calcification
13.  Association of Cardiac Annular / Valvular Calcification with Brain Findings on Magnetic Resonance Imaging in Community Dwelling Older Adults: the Cardiovascular Health Study 
The objective of this study is to investigate the association of mitral annular calcification (MAC), aortic annular calcification (AAC), and aortic valve sclerosis (AVSc) with covert magnetic resonance imaging (MRI)-defined brain infarcts.
Clinically silent brain infarcts defined by MRI are associated with increased risk of cognitive decline, dementia, and future overt stroke. Left sided cardiac valvular / annular calcifications are suspected as risk factors for clinical ischemic stroke.
2,680 Cardiovascular Health Study participants without clinical history of stroke or transient ischemic attack underwent both brain MRI (1992–93) and echocardiography (1994–95).
The mean age of the participants was 74.5 years ± 4.8 and 39.3% were men. The presence of any annular / valvular calcification (either MAC or AAC or AVSc), MAC alone, or AAC alone were significantly associated with a higher prevalence of covert brain infarcts in unadjusted analyses (p < 0.01 for all). In models adjusted for age, sex, race, body mass index, physical activity, creatinine, systolic blood pressure, total cholesterol, HDL-cholesterol, smoking, diabetes, coronary heart disease, and congestive heart failure, the presence of any annular / valve calcification remained associated with covert brain infarcts [RR 1.24 (95% CI 1.05, 1.47)]. The degree of annular / valvular calcification severity showed a direct relation with the presence of covert MRI findings.
Left-sided cardiac annular / valvular calcification are associated with covert MRI-defined brain infarcts. Further study is warranted to identify mechanisms and determine whether intervening on the progression of annular / valvular calcification could reduce the incidence of covert brain infarcts as well as the associated risk of cognitive impairment and future stroke.
PMCID: PMC4104125  PMID: 21596233
Covert Brain Infarcts; Aortic Valve; Mitral Valve; Calcification; Epidemiology
14.  Tuberculosis of the genitourinary system-Urinary tract tuberculosis: Renal tuberculosis-Part I 
Tuberculosis (TB) remains a worldwide scourge and its incidence appears to be increasing due to various factors, such as the spread of human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS). The insidious onset and non-specific constitutional symptoms of genitourinary tuberculosis (GUTB) often lead to delayed diagnosis and rapid progression to a non-functioning kidney. Due to hematogenous dissemination of TB, there is a potential risk of involvement of the contralateral kidney too. Imaging plays an important role in the making of a timely diagnosis and in the planning of treatment, and thus helps to avoid complications such as renal failure. Imaging of GUTB still remains a challenge, mainly on account of the dearth of literature, especially related to the use of the newer modalities such as magnetic resonance imaging (MRI). This two-part article is a comprehensive review of the epidemiology, pathophysiology, and imaging findings in renal TB. Various imaging features of GUTB are outlined, from the pathognomonic lobar calcification on plain film, to finer early changes such as loss of calyceal sharpness and papillary necrosis on intravenous urography (IVU); to uneven caliectasis and urothelial thickening, in the absence of renal pelvic dilatation, as well as the hitherto unreported ‘lobar caseation’ on ultrasonography (USG). Well-known complications of GUTB such as sinus tracts, fistulae and amyloidosis are described, along with the relatively less well-known complications such as tuberculous interstitial nephritis (TIN), which may remain hidden because of its ‘culture negative’ nature and thus lead to renal failure. The second part of the article reviews the computed tomography (CT) and MRI features of GUTB and touches upon future imaging techniques along with imaging of TB in transplant recipients and in immunocompromised patients.
PMCID: PMC3737618  PMID: 23986618
Renal tuberculosis; tuberculous interstitial nephritis; intravenous urography; ultrasonography; lobar caseation; uneven caliectasis
15.  Consequences of avascular necrosis of the femoral head in aluminium-related renal osteodystrophy and the role of endochondral ossification in the repair process. 
Journal of Clinical Pathology  1983;36(3):260-268.
A patient with chronic renal failure, a dialysis encephalopathy syndrome and renal osteodystrophy associated with aluminium intoxication developed an avascular necrosis of the left femoral head. Histological examination of the excised head confirmed the zone of avascular necrosis and demonstrated an exuberant formation of cartilage around this zone. Calcification was sparse and the cartilage exhibited histological features similar to those seen in classical rickets. Histochemical and electron probe x-ray microanalysis demonstrated aluminium in the matrix around hypertrophic chondrocytes, at the tide mark of articular cartilage and at the mineralised tissue/osteoid interface of trabecular bone. Aluminium, therefore, preferentially localises at sites of calcification and possibly exerts an inhibitory effect on this reaction. This is taken to account for the relative failure of endochrondral ossification and the development of a rachitic appearance. A comparison with five other examples of avascular necrosis of the femoral head (occurring after renal transplantation, as an idiopathic phenomenon and as a complication of steroid therapy) showed that, in addition to the more commonly described appositional bone formation, cartilage formation and endochondral ossification were present in three of these comparison cases, although less prominent and of considerably less degree than in the main case.
PMCID: PMC498195  PMID: 6402524
16.  Transient and Persistent Hypercalcaemia in Patients Treated by Maintenance Haemodialysis 
British Medical Journal  1968;4(5624):150-152.
In a group of 32 patients with terminal renal failure the initial hypocalcaemia was corrected after two months' adequate maintenance haemodialysis. In seven patients hypercalcaemia occurred with a peak incidence after about six months' treatment. In six of these patients hypercalcaemia was transient and the plasma calcium became normal with haemodialysis alone. In one patient the hypercalcaemia was persistent and the plasma calcium reverted to normal only after subtotal parathyroidectomy. This patient had no radiological bone disease, a normal alkaline phosphatase, and no metastatic calcification of the soft tissues.
It is concluded that in some patients with terminal renal failure treated with maintenance haemodialysis autonomy of the parathyroids becomes evident in the absence of bone disease or a raised plasma alkaline phosphatase, and that subsequently with continued dialysis there is a spontaneous involution towards normal parathyroid function.
PMCID: PMC1911976  PMID: 5681049
17.  Calcium Scoring in Patients with a History of Kawasaki Disease 
JACC. Cardiovascular imaging  2012;5(3):264-272.
To assess coronary artery calcification in patients of age ≥ 10 years with a history of Kawasaki Disease (KD).
Patients with a history of KD and coronary artery aneurysms are at risk for late morbidity from coronary artery events. It is unknown whether KD patients with acutely normal or transiently dilated coronary arteries also have increased risk of late coronary artery complications. Coronary calcium scoring by non-contrast computed tomography (CT) is a well-established tool for risk stratifying patients with atherosclerotic coronary artery disease, but there are limited data on its role in evaluating patients with a history of KD.
We performed coronary artery calcium (CAC) volume scoring using a low radiation dose CT protocol on 70 subjects (median age: 20.0 years) with a remote history of KD (median interval from acute KD to imaging: 14.8 years): 44 (63%) had no history of coronary dilation, 12 (17%) had a history of transient dilation, and 14 (20%) had coronary aneurysms.
All of the subjects with normal coronary artery internal diameter during the acute phase of KD and 11 of 12 subjects with transient dilatation had CAC scores of zero. Coronary calcification was observed in 10 of the 14 subjects with coronary aneurysms, with the degree of calcification ranging from mild to severe and occurring years after the subjects’ acute KD.
Coronary calcification was not observed in subjects with a history of KD and normal coronary arteries during the acute phase. Therefore, CAC scanning may be a useful tool to screen patients with a remote history of KD or suspected KD and unknown coronary artery status. Coronary calcification, which may be severe, occurs late in patients with coronary aneurysms. The pathophysiology and clinical implications of coronary calcification in patients with aneurysms are currently unknown and warrant further study.
PMCID: PMC4188432  PMID: 22421171
Calcium Scoring; Kawasaki Disease; Aneurysm; Computed Tomography
18.  Effect of bisphosphonates on vascular calcification and bone metabolism in experimental renal failure 
Kidney international  2009;75(6):617-625.
Although it is known that bisphosphonates prevent medial vascular calcification in vivo, their mechanism of action remains unknown and, in particular, whether they act directly on the blood vessels or indirectly through inhibition of bone resorption. To determine this, we studied the effects of two bisphosphonates on calcification of rat aortas in vitro and on in vivo aortic calcification and bone metabolism in rats with renal failure. We produced vascular calcification in rats with adenine-induced renal failure fed a high-phosphate diet. Daily treatment with either etidronate or pamidronate prevented aortic calcification, with the latter being 100-fold more potent. Both aortic calcification and bone formation were reduced in parallel; however, bone resorption was not significantly affected. In all uremic rats, aortic calcium content correlated with bone formation but not with bone resorption. Bisphosphonates also inhibited calcification of rat aortas in culture and arrested further calcification of precalcified vessels but did not reverse their calcification. Expression of osteogenic factors or calcification inhibitors was not altered by etidronate in vitro. Hence, these studies show that bisphosphonates can directly inhibit uremic vascular calcification independent of bone resorption. The correlation between inhibition of aortic calcification and bone mineralization is consistent with a common mechanism such as the prevention of hydroxyapatite formation and suggests that bisphosphonates may not be able to prevent vascular calcification without inhibiting bone formation in uremic rats.
PMCID: PMC2999577  PMID: 19129793
bone formation; bone histomorphometry; bone resorption; pyrophosphate; rat aorta; uremic osteodystrophy
19.  Molecular diagnosis of generalized arterial calcification of infancy (GACI) 
Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibitor of extracellular matrix calcification. A newborn was diagnosed with GACI. The infant died at the age of 7 weeks of cardiac failure and the parents were referred to Molecular Biology and Cytogenetic lab for further workup. Cytogenetics analysis was performed on the parents, which showed normal karyotypes and mutational analysis for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene was also performed. The mutational analysis showed that both father and mother of the deceased infant were heterozygous carriers of the mutation c.749C>T (p.P250L) in exon 7 of ENPP1 and it was likely, that the deceased child carried the same mutation homozygous on both alleles and died of GACI resulting from this ENPP1 mutation. The couple was counseled and monitored for the second pregnancy. Amniocentesis was performed at 15 weeks of gestation for mutational analysis of the same gene in the second pregnancy. The analysis was negative for the parental mutations. One month after the birth of a healthy infant, peripheral blood was collected from the baby and sent for reconfirmation. The results again were negative for the mutation and the baby was on 6 months follow up and no major symptoms were seen. The parents of the child benefited enormously by learning about the disease much in advance and also its risk of recurrence. The main aim of this study is to emphasize on two aspects: (i) the importance of modern molecular techniques in diagnosis such a syndrome and (2) the difficulties faced by the physician to provide appropriate diagnosis and the adequate genetic counseling to the family without molecular facilities.
PMCID: PMC3354462  PMID: 22629037
Cytogenetics; ecto-nucleotide pyrophosphatase/phosphodiesterase 1 encoding gene; prenatal diagnostic testing; pyrophosphate
20.  Metastatic Pulmonary Calcification in a Patient with Chronic Renal Failure 
Metastatic pulmonary calcification characterized by diffuse calcium deposition in the lungs is known to occur in patients with chronic renal failure. We present a case of a 47-year-old man with chronic renal failure presented with dyspnea, high-resolution computed tomography of the chest revealed multiple, centrilobular, calcified nodules and patchy areas of ground-glass opacity throughout both lungs, consistent with metastatic pulmonary calcification. Calcification was also seen in the bronchi and trachea.
PMCID: PMC3303306  PMID: 22470654
Metastatic pulmonary calcification; HRCT; chronic renal failure
21.  Tumoral calcinosis: a manifestation of extreme metastatic calcification occurring with 1, alpha-hydroxycholecalciferol therapy. 
Postgraduate Medical Journal  1977;53(623):570-573.
Two cases are reviewed, both of which developed tumoral calcinosis whilst receiving 1, alpha-hydroxy-cholecalciferol therapy. Tumoral calcinosis is an extreme form of peri-articular calcification, and its occurrence in patients with chronic renal failure is unusual. These peri-articular masses developed around the shoulders in both patients, and the action of 1, alpha-hydroxycholecalciferol as a possible factor promoting this form of metastatic calcification is discussed.
PMCID: PMC2496699  PMID: 928257
22.  Outcome of embolised vascular metastatic renal cell tumours causing spinal cord compression 
European Spine Journal  2013;22(Suppl 1):27-32.
To present the results of the surgical management of metastatic renal cell tumours of the spine with cord compression who underwent pre-operative embolisation.
We conducted a retrospective cohort study of all embolised vascular metastatic renal cell tumours of the spine that underwent urgent surgical intervention over a 7-year period (2005–2011). All medical notes, images and angiography/embolisation details were studied. We recorded the timing (immediate vs. delayed) and grade of embolisation and compared this to the estimated blood loss (EBL); extent of metastatic spinal cord compression (using the Tomita score and Bilsky scores) was also compared to EBL. Finally, neurological (Frankel grade), surgical outcome and complications were reviewed in all patients.
During the study period, we operated on 25 emergency patients with metastatic renal cell carcinoma causing spinal cord compression who had received pre-operative embolisation (mean age 59.6 (24–78) years; 8 females, 17 males). All but one of our patients had hypervascularisation/arterio-venous fistulae on angiography. We were able to achieve greater than 90 % embolisation in the majority (17/25, 68 %) The estimated blood loss was 1,696 (400–5,000) ml; mean operating time was 276 (90–690) min and an average of 2.3 (0–7) units of whole blood was transfused. Nine patients had a posterior only decompression/stabilisation, nine patients had a posterior decompression ± cement augmentation, six had combined anterior/posterior procedures and one had anterior corpectomy/reconstruction alone. There was no statistical difference in the EBL between immediate versus delayed surgery after embolisation or the grade of embolisation. Immediate surgery after embolisation and interestingly less complete embolisation showed a trend towards less EBL. The extent of the tumour as graded by the Bilsky score correlated with increased EBL (p = 0.042). No complications occurred during the embolisation procedure. The surgical complication rate was 32 % (8/25) including two major complications (septicaemia (1) and metal work failure (2)) and five minor complications. Postoperatively, 52 % (13/25) had no change in neurological status, 36 % (9/25) improved by at least one Frankel grade and 12 % (3/25) had neurological deterioration by one Frankel grade. The average survival following surgery was 14.1 (0.5–72) months.
Blood loss (mean 1,696 ml) and complications (32 %) remain a concern in the operative treatment of vascular metastatic spinal cord compression. Most patients remained the same neurologically or improved by at least 1 grade (22/25, 88 %). Paradoxically, greater embolisation showed a trend to more blood loss which could be due to more extensive surgery in this group, a rebound ‘reperfusion’ phenomena or even the presence of arterio-venous fistulae. Interestingly, we also found that the extent of the tumour, as graded by the Bilsky score, correlated with increased blood loss suggesting that more extensive cord compression by metastases could lead to more blood loss intra-operatively.
PMCID: PMC3578518  PMID: 23328874
Embolisation; Vascular metastatic spinal tumours
23.  Potential risk factors for the development of acute renal failure in preterm newborn infants: a case-control study 
Aims: To determine in a case-control study possible associations between the development of acute renal failure in preterm newborns and therapeutic interventions, particularly drug treatments.
Methods: The study population was 172 preterm infants of <38 weeks gestation; 71 had acute renal failure and 101 were controls closely matched for gestational age and birth weight. Maternal and neonatal information was collected for both groups through questionnaires and interviews. Routine data on renal variables were also collected. Univariate and multivariate logistic regression analyses were performed.
Results: Very low birthweight infants were at high risk of acute renal failure (79% of cases were <1500 g). However, the acute renal failure was transient. Mothers of infants with acute renal failure received more drugs during pregnancy and delivery (mainly antibiotics and non-steroidal anti-inflammatory drugs). Of the possible therapeutic interventions, intubation, catheterisation, and phototherapy were mainly applied to case subjects. A low Apgar score and patent ductus arteriosus were diagnosed in a greater percentage of neonates with acute renal failure. Moreover, in the first few days of life and before diagnosis of acute renal failure, case subjects received more drugs (antibiotics, non-steroidal anti-inflammatory drugs, and diuretics) and for a longer time. In the multivariate logistic analysis, medullary hyperechogenicity (odds ratio (OR) 4.491; 95% confidence interval (CI) 1.879 to 10.731) and ceftazidime administration (OR 5.082; 95% CI 1.493 to 17.297) were associated with a greater risk of acute renal failure.
Conclusions: The results suggest the need for careful monitoring of very low birthweight infants and attention to drug treatments, as it is difficult to differentiate between normality and renal failure in the first few days of life.
PMCID: PMC1721962  PMID: 16244211
24.  Could Neonatal Hypernatremia Dehydration Influence Hearing Status? 
Neonatal hypernatremia dehydration (NHD) is a dangerous condition in neonates, which is accompanied by acute complications (renal failure, cerebral edema, and cerebral hemorrhage) and chronic complications (developmental delay). Children begin learning language from birth, and hearing impairment interferes with this process. We assessed the hearing status of infants with hypernatremia dehydration.
Materials and Methods:
In a case-control study in 110 infants presenting at the Ghaem Hospital (Mashhad, Iran) between 2007 and 2011, we examined the incidence of hearing impairment in infants suffering from hypernatremia dehydration (serum sodium >150 mEq/L) in comparison with infants with normal sodium level (serum sodium ≤150 mEq/L).
Three of 110 cases examined in the study group showed a transient hearing impairment. A mean serum sodium level of 173mg/dl was reported among hearing-impaired infants.
Transient hearing impairment was higher in infants with hypernatremia; although this difference was not significant (P>0.05). Hearing impairment was observed in cases of severe hypernatremia.
PMCID: PMC3915064  PMID: 24505569
Auditory Brainstem Response; Hearing loss; Hypernatremic dehydration; Newborn; Otoacustic emissions
25.  Superficial temporal artery calcification in patients with end-stage renal disease: Association with vascular risk factors and ischemic cerebrovascular disease 
Background and Purpose:
Extracranial superficial temporal artery (STA) calcification is an unusual finding seen in patients with chronic kidney disease and has unknown ramifications with respect to intracranial ischemic disease. We sought to determine the association between the risk factors for vascular calcification and this rare phenomenon, in patients with chronic renal failure, and to assess the coexistence of cerebral ischemia.
Materials and Methods:
Medical records and laboratory data on risk factors for vascular calcification were retrospectively retrieved for 453 patients with a discharge diagnosis of end-stage renal disease (ESRD). CT head examinations were reviewed to identify and associate STA calcification with 1) risk factors for the vascular calcification, 2) intracranial artery calcification, and 3) cerebral ischemia (white matter and/or cortical ischemic changes).
STA calcification was present in 9.9% (45/453) of the studied cohort. The prevalence of cerebral ischemia was 24.4% (11/45) in patients with STA calcification and 9.3% (38/408) in patients without it. Diabetes mellitus (OR: 2.56, 95% CI: 1.059-6.208; P=0.037) was independently associated with the risk of STA calcification. The risk of cerebral ischemia, however, was not related to STA calcification (P=0.221).
The presence of diabetes mellitus is important in describing the risk of STA calcification in patients with ESRD, whereas age, gender, hypertension, serum calcium, serum phosphate, or serum hemoglobin levels are not. The risk of cerebral ischemia is not related to STA calcification but has the strongest association with diabetes mellitus.
PMCID: PMC3190495  PMID: 22013298
Cerebrovascular disease; end-stage renal disease; superficial temporal artery calcification

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