64 research outputs found

    Nondestructive analysis of urinary calculi using micro computed tomography

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    BACKGROUND: Micro computed tomography (micro CT) has been shown to provide exceptionally high quality imaging of the fine structural detail within urinary calculi. We tested the idea that micro CT might also be used to identify the mineral composition of urinary stones non-destructively. METHODS: Micro CT x-ray attenuation values were measured for mineral that was positively identified by infrared microspectroscopy (FT-IR). To do this, human urinary stones were sectioned with a diamond wire saw. The cut surface was explored by FT-IR and regions of pure mineral were evaluated by micro CT to correlate x-ray attenuation values with mineral content. Additionally, intact stones were imaged with micro CT to visualize internal morphology and map the distribution of specific mineral components in 3-D. RESULTS: Micro CT images taken just beneath the cut surface of urinary stones showed excellent resolution of structural detail that could be correlated with structure visible in the optical image mode of FT-IR. Regions of pure mineral were not difficult to find by FT-IR for most stones and such regions could be localized on micro CT images of the cut surface. This was not true, however, for two brushite stones tested; in these, brushite was closely intermixed with calcium oxalate. Micro CT x-ray attenuation values were collected for six minerals that could be found in regions that appeared to be pure, including uric acid (3515 – 4995 micro CT attenuation units, AU), struvite (7242 – 7969 AU), cystine (8619 – 9921 AU), calcium oxalate dihydrate (13815 – 15797 AU), calcium oxalate monohydrate (16297 – 18449 AU), and hydroxyapatite (21144 – 23121 AU). These AU values did not overlap. Analysis of intact stones showed excellent resolution of structural detail and could discriminate multiple mineral types within heterogeneous stones. CONCLUSIONS: Micro CT gives excellent structural detail of urinary stones, and these results demonstrate the feasibility of identifying and localizing most of the common mineral types found in urinary calculi using laboratory CT

    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

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    Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children but are notoriously difficult to diagnose. Whole exome resequencing facilitates identification of recessive disease genes. However, its utility is impeded by the large number of genetic variants detected. We here overcome this limitation by combining homozygosity mapping with whole exome resequencing in 10 sib pairs with a nephronophthisis-related ciliopathy, which represents the most frequent genetic cause of CKD in the first three decades of life. In 7 of 10 sib-ships with a histologic or ultrasonographic diagnosis of nephronophthisis-related ciliopathy we detect the causative gene. In six sib-ships we identify mutations of known nephronophthisis-related ciliopathy genes, while in two additional sib-ships we found mutations in the known CKD-causing genes SLC4A1 and AGXT as phenocopies of nephronophthisis-related ciliopathy. Thus whole exome resequencing establishes an efficient, non-invasive approach towards early detection and causation-based diagnosis of rare kidney diseases. This approach can be extended to other rare recessive disorders, thereby providing accurate diagnosis and facilitating the study of disease mechanisms

    Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

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    Background Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised.Methods In 120 patients with severe NPHP-AC phenotypes, five pools of genomic DNA with 24 patients each were prepared which were used as templates in order to PCR amplify all 376 exons of 18 NPHP-AC genes (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, TMEM67, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, TTC21B, MKS1, and XPNPEP3). PCR products were then subjected to MPR on an Illumina Genome-Analyser and mutations were subsequently assigned to their respective mutation carrier via CEL I endonuclease based heteroduplex screening and confirmed by Sanger sequencing.Results For proof of principle, DNA from patients with known mutations was used and detection of 22 out of 24 different alleles (92% sensitivity) was demonstrated. MPR led to the molecular diagnosis in 30/120 patients (25%) and 54 pathogenic mutations (27 novel) were identified in seven different NPHP-AC genes. Additionally, in 24 patients only single heterozygous variants of unknown significance were found.Conclusions The combined approach of DNA pooling followed by MPR strongly facilitates mutation analysis in broadly heterogeneous single gene disorders. The lack of mutations in 75% of patients in this cohort indicates further extensive heterogeneity in NPHP-AC

    AMCP Partnership Forum: Driving Value and Outcomes in Oncology

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    Shear bond strength of amalgam reinforced with a bonding agent and/or dentin pins

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    Statement of problem. The use of dentin pins call cause crazing in dentin. Bonding agents represent a more conservative approach to retention but may not ensure a comparable shear bond strength

    Comparison of the tensile bond strength of high-noble, noble, and base metal alloys bonded to enamel

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    Statement of problem. Although the bond strengths of various resin composite luting materials have been reported in the literature, the evaluation of these systems with various cast alloys of different compositions has not been competely clarified

    Oncologists' perspectives on consolidation radiation treatment after chemotherapy for lymphomas: A survey study by the lymphoma working committee of the Turkish Oncology Group (TOG)

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    In this study, we aimed to determine the perspectives of medical and radiation oncologists regarding consolidation radiotherapy in patients with a complete response after chemotherapy for Hodgkin's and non-Hodgkin's lymphomas. The survey was designed to identify demographic and occupational features of medical and radiation oncologists and their views on application of consolidation radiotherapy in their clinical practices, as based on a five-point Likert scale (never, rarely, sometimes, often, and always). The study covered 263, out of 935, physicians working in the oncology field as either medical or radiation oncologists; the rate of return on the invitations to participate was 28%. The majority of the participants were male radiation oncologists, with a duration of between 5 and 10 years of work as a university hospital official, and the mean age was 38 ± 14 (years). Although the most commonly followed international guidelines were NCCN, among the physicians, the majority of the respondents suggested that the guidelines were unclear regarding recommendations for consolidative radiotherapy. The administered dose for consolidative radiotherapy in lymphoma patients was indicated as 40 Gy by 49% of all the physicians and the most common cause of hesitancy concerning consolidative radiation treatment was the risk of secondary malignancies as a long-term adverse effect (54%). In conclusion, we suggest that medical oncologists could be most active in the treatment of lymphoma through a continuous training program about lymphomas and current national guidelines

    Attitudes of cancer patients after diagnosis: How cancer affects social life? A Turkish Oncology Group study

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    PubMedID: 28365956Purpose: Each year, 12.7 million people leam that they have cancer and 8.2 million people die of= cancer worldwide. Cancer is a major public health issue which causes fundamental changes in the lives of patients and their families. The purpose of this study was to evaluate the lives of patients after diagnosis and determine the changes in their lifestyles. Methods: Between September 2013 to December 2013, a questionnaire consisting of 22 questions was administered during a face to face interview to patients at 13 different Oncology Units in Turkey. Each patient was queried during the administration of his/her chemotherapy. Eight of the questions featured independent choices, and 14 had dependent (multiple) choices. Results: A total of 1300 patients were included in the study. Of patients 9.5% were 71 years of age and older which was the oldest age group. The mean patient age was 54.6±13.8 years. Of the whole group of patients 58.5% were female and 41.5% male. After diagnosis, 64% of the patients reported that they were complying with guidelines for a healthy lifestyle and 80% said that they were eating healthier food. At the time they filled in the questionnaire, more than half of the patients (57.3%) felt optimistic about their disease. Conclusions: Diagnosis of cancer may change the patients' dietary and reading habits, social relationships, activities and more importantly, their point of life view
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