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https://www.readbyqxmd.com/read/25459786/ethical-issues-in-dna-sequencing-in-the-neonate
#1
REVIEW
David P Dimmock, David P Bick
With the recognition of genetic disorders in the newborn, there is the potential to offer new lifesaving therapies. For other conditions such as hypothyroidism in Down syndrome or hypercalemia in the 22q11 microdeltion syndrome, the early identification of an untreatable condition permits prompt screening for potential comorbid conditions. DNA testing for disorders and DNA-based screening are rapidly evolving. With new more powerful tests, there is an increasing ability to see into a potential future and change the outcome for newborns...
December 2014: Clinics in Perinatology
https://www.readbyqxmd.com/read/25214398/vitamin-d-inhibits-development-of-liver-fibrosis-in-an-animal-model-but-cannot-ameliorate-established-cirrhosis
#2
Shirley Abramovitch, Efrat Sharvit, Yosef Weisman, Amir Bentov, Eli Brazowski, Gili Cohen, Oded Volovelsky, Shimon Reif
1,25(OH)2D3, the active form of vitamin D, has an antiproliferative and antifibrotic effect on hepatic stellate cells. Our aim was to investigate the potential of 1,25(OH)2D3 to inhibit the development of liver fibrosis and to ameliorate established fibrosis in vivo. The antifibrotic effect of 1,25(OH)2D3 was investigated in a thioacetamide (TAA) model (as a preventive treatment and as a remedial treatment) and in a bile duct ligation model. In the preventive model, rats received simultaneously intraperitoneum injection of TAA and/or 1,25(OH)2D3 for 10 wk...
January 15, 2015: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/22800939/tumor-necrosis-factor-alpha-induces-renal-cyclooxygenase-2-expression-in-response-to-hypercalcemia
#3
Sailaja Battula, Shoujin Hao, Paulina L Pedraza, Charles T Stier, Nicholas R Ferreri
The effect of tumor necrosis factor-alpha (TNF) on cyclooxygenase-2 (COX-2) expression in the renal outer medulla (OM) was determined in a model of dihydrotachysterol (DHT)-induced hypercalcemia. Increases in serum calcium and water intake were observed during ingestion of a DHT-containing diet in both wild type (WT) and TNF deficient mice (TNF(-/-)). Polyuria and a decrease in body weight were observed in response to DHT treatment in WT and TNF(-/-) mice. A transient elevation in urinary TNF was observed in WT mice treated with DHT...
October 2012: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/18766005/efficacy-of-doxifluridine-combined-with-weekly-paclitaxel-therapy-in-the-treatment-of-advanced-or-recurrent-breast-cancer-results-of-the-jmto-bc01-phase-ii-trial
#4
Reiki Nishimura, Takeshi Tominaga, Morihiko Kimura, Yasuhiro Yanagita, Nobumitsu Tamaki, Kazuaki Asaishi, Yasushi Okamoto, Nobuo Okuyama, Hideki Takeuchi, Masaharu Inaba, Takako Doi
We conducted a phase II study to determine the availability and safety of combination chemotherapy with weekly paclitaxel and doxifluridine (a capecitabine metabolite) in the treatment of advanced or recurrent breast cancer. Patients were treated with a combination chemotherapy regimen: doxifluridine was orally administered at 800 mg/day for 14 days, followed by a 7-day washout period. Paclitaxel was given intravenously on days 1 and 8 at 80 mg/m2 for 1 h, followed by a 1-week washout period. This 3-week cycle of therapy was repeated as long as possible (at least eight cycles) until the progression of the tumor and drug-related adverse effects were no longer observed...
October 2008: Anti-cancer Drugs
https://www.readbyqxmd.com/read/18370233/g-protein-coupled-receptors-disrupted-in-human-genetic-disease
#5
REVIEW
Miles D Thompson, Maire E Percy, W McIntyre Burnham, David E C Cole
Genetic variation in G protein-coupled receptors (GPCRs) results in the disruption of GPCR function in a wide variety of human genetic diseases. In vitro strategies have been used to elucidate the molecular pathologies that underlie naturally occurring GPCR mutations. Various degrees of inactive, overactive, or constitutively active receptors have been identified. These mutations often alter ligand binding, G protein coupling, receptor desensitization, and receptor recycling. The role of inactivating and activating calcium-sensing receptor (CASR) mutations is discussed with respect to familial hypocalciuric hypercalemia (FHH) and autosomal dominant hypocalemia (ADH)...
2008: Methods in Molecular Biology
https://www.readbyqxmd.com/read/17990805/-the-use-of-peritoneal-dialysis-in-newborns
#6
Vesna Stojanović, Aleksandra Bregun-Doronjski, Dusanka Dobanovacki, Smiljana Marinković, Branka Kovacević, Slobodan Spasojević
INTRODUCTION: Acute renal failure is a common complication in critically ill newborn infants. The therapy of acute renal failure is conservative and etiological. Patients not responding to this kind of therapy require peritoneal dialysis. MATERIAL AND METHODS: This retrospective study included 6 newborn infants undergoing peritoneal dialysis during the period from January 2004 to June 2006, at the Nephrology Department of the Institute of Child and Youth Health Care in Novi Sad...
July 2007: Medicinski Pregled
https://www.readbyqxmd.com/read/17392605/parathyroid-carcinoma-in-multiple-endocrine-neoplasia-type-1-men1-syndrome-two-case-reports-of-an-unrecognised-entity
#7
A Agha, R Carpenter, S Bhattacharya, S J Edmonson, E Carlsen, J P Monson
CONTEXT: Primary hyperparathyroidism occurs in almost all patients with the syndrome of multiple endocrine neoplasia type 1 (MEN1), but the association of MEN1 with parathyroid carcinoma has only been described previously in a single patient. In this report, we describe two further cases of parathyroid carcinoma presenting in MEN1 syndrome. CASE REPORTS: The first patient was a 69-yr-old woman, who presented with severe primary hyperparathyroidism and tracheal compression by a large mediastinal mass, which was shown histologically to be a parathyroid carcinoma with a second similar lesion in the neck...
February 2007: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/15456147/-monoclonal-gammopathy-of-undetermined-significance-mgus-in-mexican-mestizos-one-institution-s-experience
#8
COMPARATIVE STUDY
Guillermo J Ruiz-Delgado, J David Gómez Rangel
Monoclonal gammopathy of undetermined significance (MGUS) is defined as presence of serum monoclonal protein at a concentration of 3 g per deciliter or less, no monoclonal protein or only moderate amounts of monoclonal light chains in urine, absence of lytic bone lesions, anemia, hypercalemia, and renal insufficiency related with monoclonal protein, and with a proportion of plasma cells in bone marrow of 10% or less. In Caucasian population, MGUS affects about 3% of individuals > 70 years of age, whereas in Mexican mestizos this figure is substantially lower (0...
July 2004: Gaceta Médica de México
https://www.readbyqxmd.com/read/12523925/celecoxib-related-renal-papillary-necrosis
#9
Laila Akhund, Robert J Quinet, Saliha Ishaq
Selective cyclooxygenase 2 (COX-2) inhibitors are known to affect renal prostaglandins (epoprostenol and dinoprostone), which are at least in part COX-2 dependent. Consequently, adverse events including hypertension, peripheral edema, hypercalemia, hyponatremia, and acute renal failure have been reported to occur with the new COX-2-specific inhibitors. This case report posits celecoxib as a likely cause of renal papillary necrosis and alerts physicians to the possibility of this additional renal complication with COX-2-specific inhibitors...
January 13, 2003: Archives of Internal Medicine
https://www.readbyqxmd.com/read/7070002/dialysate-aluminium-concentration-and-renal-bone-disease
#10
G S Walker, J E Aaron, M Peacock, P J Robinson, A M Davison
We studied 40 patients maintained on regular hemodialysis, using radiology and quantitative bone histology to assess the relationship between renal bone disease and exposure to aluminium. Fractures were significantly more common in patients exposed to high dialysate aluminium concentrations. The histologic indices of osteomalacia were significantly related to the prevailing dialysate aluminium concentration, in such a way that higher aluminium levels were associated with more osteomalacia. Patients who had been exposed to higher concentrations of aluminium also tended to have a lower plasma phosphate concentration, and associated hypercalemia was seen in 6 patients with osteomalacia...
February 1982: Kidney International
https://www.readbyqxmd.com/read/5118403/-sarcoidosis-with-hypercalemia-hyperparathyroidism-and-reversible-uremia
#11
I Dawidson, S Jameson
No abstract text is available yet for this article.
November 8, 1971: Nordisk Medicin
https://www.readbyqxmd.com/read/3467838/bone-and-kidney-adenylate-cyclase-stimulating-activity-produced-by-a-hypercalcemic-canine-adenocarcinoma-line-cac-8-maintained-in-nude-mice
#12
T J Rosol, C C Capen, C L Brooks
The tumor line CAC-8, is a serially transplantable adenocarcinoma maintained in nude mice which originated from a hypercalcemic dog. Nude mice with CAC-8 developed a syndrome of humoral hypercalcemia of malignancy. CAC-8 contained a protein factor which stimulated adenylate cyclase of bone and kidney cells in vitro. The adenylate cyclase (AC) of rat osteosarcoma cell lines, ROS 17/2.8 (ROS) and UMR-106, was stimulated by the tumor extract and potentiated by forskolin (0.1 microM). The ROS cells responded to the lowest concentration of CAC-8 extract, but UMR cells responded with a greater increase in AC activity compared to controls following exposure to CAC-8 extract...
February 1, 1987: Cancer Research
https://www.readbyqxmd.com/read/182436/bone-pathology-in-hypervitaminosis-d-an-experimental-study-in-young-pigs
#13
C N Chineme, L Krook, W G Pond
Five groups of 4 weanling pigs were fed a diet with 1.2% calcium and 1.0% phosphorus for 8 weeks with vitamin D3 at 1, 5, 25, 125 and 625 times the recommended levels, respectively. Hypercalcemia and hypophosphatasemia developed rapidly and persisted in Group 5 and developed more slowly but steadily in Group 4. Increasing levels of vitamin D3 influenced progressively and negatively the activity of resorbing osteocytes with osteopetrosis in Groups 2 and 3 and with osteonecrosis in Group 5. Atrophy of osteoblasts further contributed to the osteopenia in Group 5...
July 1976: Cornell Veterinarian
https://www.readbyqxmd.com/read/117882/significance-of-early-increase-in-stable-and-radioactive-plasma-calcium-after-parathyroidectomy-in-primary-hyperparathyroidism
#14
G F Mazzuoli, E D'Erasmo, A Scarda, S Minisola, D Mancini, L M Aliberti
Early effects of parathyroid hormone (PTH) deficiency were studied in 12 patients with primary hyperparathyroidism due to single parathyroid adenoma by following the precise time course of changes in plasma calcium (Ca) and immunoreactive parathyroid hormone (IPTH) after parathyroid surgery and by prelabeling 2 patients with radiocalcium (Ca*). Surgical removal of the adenoma was immediately followed by a sudden increase in plasma Ca which preceded the usual fall. The increase in plasma Ca commenced simultaneously with the fall in iPTH and was accompanied by a parallel increase in specific activity (sp...
1979: Calcified Tissue International
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