Erdheim-Chester disease misdiagnosed as meningioma of the pontocerebellar angle: A case report and review of literature.

Erdheim-Chester Disease (ECD) is a rare non-Langerhans form of systemic histiocytosis of unknown etiology with multiple organ involvement. It most commonly affects the long bones, lungs, heart, retroperitoneum, eyes, and kidneys and less commonly the brain and spinal cord. Although there are very few cases of supratentorial ECD mimicking intracranial meningioma reported in literature, to the best of our knowledge, there are no reports on ECD mimicking infratentorial pontocerebellar angle meningioma. The present study reports a case of ECD mimicking pontocerebellar angle meningioma. This study aimed to emphasize the importance of systemic evaluation using a multidisciplinary approach as well as the need for considering ECD as a differential diagnosis of xanthomatous meningioma.

A novel mutation in a patient with familial renal hypouricemia type 2.

INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis. CASE PRESENTATION: Here, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge. CONCLUSION: Clinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises.

A novel mutation in a patient with familial renal hypouricemia type 2

Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis.Case presentationHere, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge.ConclusionClinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises. (AU)

A novel mutation in a patient with familial renal hypouricemia type 2.

INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis. CASE PRESENTATION: Here, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge. CONCLUSION: Clinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises.

Don't forget syphilis in membranous nephropathy before immunosuppressants: Latent syphilis in a patient with proteinuria / No olvide la sífilis en la nefropatía membranosa antes de los inmunosupresores

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Do physicians measure patients' blood pressure, and are those measurements reliable?

To determine how and how often blood pressure (BP) measurement is performed in health institutions. The researchers observed whether or not 84 physicians performed BP measurement. Immediately after BP measurement by the physician, this was repeated by the researchers in a manner compatible with HT guidelines. The physicians' and researchers' BP measurement results were compared. Physicians measured BP in only 37% (427) of 1130 consecutive patient examinations. None of the physicians "BP measurements were fully compatible with the guidelines" BP measurement recommendations. Physicians who performed measurements determined the same SBP and DBP as the researchers in 34.3% of patients. Hypertension was determined in 18.9% of patients in clinics in which BP measurement was not performed by physicians. Not all physicians in our study measured BP, and the great majority of those who did failed to measure it reliably. We think that it is therefore vitally important for physicians across the world to receive regular, repeated, and effective training in the importance of BP measurement and how to perform it correctly.

The Relation Between Variability of Intact Parathyroid Hormone, Calcium, and Cardiac Mortality in Hemodialysis Patients.

Chronic kidney disease-mineral and bone disorder (CKD-BMD) is a condition known to be associated with cardiovascular disease and mortality in hemodialysis (HD) patients. The relation between calcium (Ca), phosphorus (P), and intact parathyroid hormone (iPTH) variability in HD patients and cardiac mortality is unknown. The purpose of this study was to assess the relation between variability in these parameters and cardiac mortality. Baseline demographic and biochemical parameters of 218 HD patients together with Ca values corrected with albumin and P values measured on a monthly basis and iPTH levels measured at 3-monthly intervals were recorded over 2 years. Standard deviation (SD) and smoothness index (SI) for each parameter were calculated to assess Ca, P, and iPTH variability. The relations between all parameters and cardiac mortality were then analyzed. Cardiac mortality was observed in 38 patients in the 2-year study period. Nonsurviving patients' ages, systolic and diastolic blood pressure (DBP), high sensitivity C-reactive protein (HsCRP) levels, mean iPTH, and SD iPTH were significantly higher than those of surviving patients, while albumin levels, SI iPTH and SI Ca were significantly lower. Age, low albumin, high DBP, SI iPTH, and SI Ca were identified as independent predictors of cardiac mortality at multivariate analysis. Our study shows that Ca and iPTH variability affect cardiac mortality independently of mean and baseline values. When supported by further studies, the relation between Ca and iPTH variability and cardiac mortality in HD patients can lead to a new perspective in terms of prognosis and treatment planning.

A new player in chronic kidney disease mineral and bone disorder: tenascin-C.

AIMS: Chronic kidney disease-mineral and bone disorder (CKD-MBD) is a condition frequently observed in CKD. The search for a reliable and easy to use biomarker in the diagnosis of CKD-MBD is continuing. Tenascin-C (TN-C) is an important extracellular (ECM) protein synthesized by osteoblasts during bone growth and morphogenesis. The purpose of this study was to assess the relation between inflammation and MBD and TN-C in HD patients and to identify a new marker that can be used to help diagnose CKD-MBD. MATERIALS AND METHODS: 136 HD patients and 22 healthy controls were enrolled in this cross-sectional, observational multicenter study. Once patients' demographic and biochemical parameters had been recorded, peripheral blood samples were collected for TN-C measurement before the mid-week HD session. The relationship between TN-C levels and demographic and biochemical parameters was then assessed. RESULTS: TN-C levels were significantly higher in the HD patient than in the control group (P<.001). Intact parathormone (iPTH) affected TN-C levels in the HD patient group. TN-C levels was significantly higher in both the high (>300 pg/ml) and low iPTH groups (<150 pg/ml) compared to the 150-300 pg/ml iPTH group (P<.001, <.001 respectively). CONCLUSIONS: This study showed, for the first time in the literature, high levels of TN-C in the low and high iPTH groups and that this elevation was associated with iPTH. We think that if our study is supported by further research, TN-C can be a biomarker capable of use in diagnosing CKD-MBD.

A new predictor of mortality in hemodialysis patients; Tenascin-C.

AIM: Cardiovascular disease is the most frequent cause of mortality in hemodialysis patients. There are a number of inconsistencies in terms of cardiovascular risk factors in these patients. Tenascin C (TN-C) is a matricellular protein which may be a prognostic predictor after myocardial infarction and many cardiac diseases. The purpose of this study was to determine TN-C levels in hemodialysis patients and to evaluate the association between TN-C levels and cardiac mortality. MAIN METHODS: In this multicenter prospective observational research, blood specimens were collected at the start of the study for the measurement of TN-C and other biochemical parameters. After 2 years' follow-up we investigated the association between TN-C and other biochemical and demographic parameters and cardiac and all cause mortality. KEY FINDINGS: Two hundred thirty-eight patients and 25 healthy individuals were enrolled. TN-C levels in the hemodialysis group were higher than those in the control group (p b 0.001). All-cause mortality was observed in 47 (19%) patients and cardiac mortality in 39 (15%). At multivariate Cox regression analysis, TN-C, age and systolic blood pressure were identified as independent predictors of cardiac mortality. The Kaplan­Meier survival curve revealed greater all-cause and cardiac mortality rates in the high TN-C group (Log rank p b 0.001 and p b 0.05 respectively). SIGNIFICANCE: TN-C levels were higher than those in the control group, and our results suggest that it may be a predictor of cardiac mortality in hemodialysis patients. If further studies support our research, TN-C may be a useful biomarker for detecting cardiac mortality risk.