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1Latest Papers from Table of Contents or Articles in PressL. M. Boyden ; M. Choi ; K. A. Choate ; C. J. Nelson-Williams ; A. Farhi ; H. R. Toka ; I. R. Tikhonova ; R. Bjornson ; S. M. Mane ; G. Colussi ; M. Lebel ; R. D. Gordon ; B. A. Semmekrot ; A. Poujol ; M. J. Valimaki ; M. E. De Ferrari ; S. A. Sanjad ; M. Gutkin ; F. E. Karet ; J. R. Tucci ; J. R. Stockigt ; K. M. Keppler-Noreuil ; C. C. Porter ; S. K. Anand ; M. L. Whiteford ; I. D. Davis ; S. B. Dewar ; A. Bettinelli ; J. J. Fadrowski ; C. W. Belsha ; T. E. Hunley ; R. D. Nelson ; H. Trachtman ; T. R. Cole ; M. Pinsk ; D. Bockenhauer ; M. Shenoy ; P. Vaidyanathan ; J. W. Foreman ; M. Rasoulpour ; F. Thameem ; H. Z. Al-Shahrouri ; J. Radhakrishnan ; A. G. Gharavi ; B. Goilav ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-01-24Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Sequence ; Animals ; Base Sequence ; Blood Pressure/genetics ; Carrier Proteins/chemistry/*genetics ; Cohort Studies ; Cullin Proteins/chemistry/*genetics ; Electrolytes ; Exons/genetics ; Female ; Gene Expression Profiling ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Genotype ; Homeostasis/genetics ; Humans ; Hydrogen-Ion Concentration ; Hypertension/complications/*genetics/physiopathology ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Mutation/*genetics ; Phenotype ; Potassium/metabolism ; Pseudohypoaldosteronism/complications/*genetics/physiopathology ; Sodium Chloride/metabolism ; Water-Electrolyte Imbalance/complications/*genetics/physiopathologyPublished by: -
2Articles: DFG German National LicensesStaff View
ISSN: 1432-198XKeywords: Key words Neonatal Bartter syndrome ; Indomethacin ; Hypercalciuria ; NephrocalcinosisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The neonatal form of Bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. The patient is a female product of 33 weeks of gestation complicated by severe polyhydramnios. Her birth weight was 2,100 g. Polyuria led to severe dehydration on the 3rd day of life. Laboratory studies showed hypokalemia, hyponatremia, and elevated plasma levels of renin and aldosterone. Hypercalciuria was associated with echographic evidence of nephrocalcinosis. Indomethacin therapy resulted in a significant reduction in urine volume and correction of biochemical abnormalities. Growth and development are satisfactory after 4 years of indomethacin therapy, but nephrocalcinosis remains unchanged.Type of Medium: Electronic ResourceURL: