ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

2019 ◽  
Vol 34 (6) ◽  
pp. 1155-1164 ◽  
Author(s):  
Arvand Akbari ◽  
Giovanni Battista Pipitone ◽  
Zahra Anvar ◽  
Mojtaba Jaafarinia ◽  
Maurizio Ferrari ◽  
...  
1987 ◽  
Vol 42 (4) ◽  
pp. 224-225
Author(s):  
JOSEPH M. GERTNER ◽  
DONALD R. COUSTAN ◽  
ALAN S. KLIGER ◽  
LAWRENCE E. MALLETTE ◽  
NEIL RAVIN ◽  
...  

2000 ◽  
Vol 11 (10) ◽  
pp. 1873-1881
Author(s):  
GIOVANNA VALENTI ◽  
ANTONIA LAERA ◽  
GIUSEPPE PACE ◽  
GABRIELLA ACETO ◽  
MARIA L. LOSPALLUTI ◽  
...  

Abstract. This study examined the hypothesis that nocturnal enuresis might be paralleled by aquaporin 2 (AQP2) urinary excretion. Eighty children who experienced nocturnal enuresis were studied and compared with 9 healthy children. The 24-h urine samples were divided into two portions: night collections and day collections. Creatinine equivalents of urine samples from each patient were analyzed by Western blotting. AQP2 levels were semiquantified by densitometric scanning and reported as a ratio between the intensity of the signal in the day urine sample versus the night urine sample (D/N AQP2 ratio). The D/N AQP2 ratio was 0.59 ± 0.11 (n = 9) in healthy children and increased to 1.27 ± 0.24 (n = 10) in a subpopulation of enuretic children who had low nocturnal vasopressin levels. In enuretic children who displayed hypercalciuria and had normal vasopressin levels, the D/N AQP2 ratio was 1.05 ± 0.27 (n = 8). These data indicate that reduced secretion of vasopressin and absorptive hypercalciuria are independently associated with an approximately twofold increase in the urinary D/N AQP2 ratio. When low nocturnal vasopressin levels were associated with hypercalciuria, a nearly threefold increase in the D/N AQP2 ratio was observed (1.67 ± 0.41, n = 11). In addition, in all enuretic patients tested, the urinary D/N AQP2 ratio correlates perfectly with the severity of the disorder (nocturnal polyuria). The findings reported in this article indicate that urinary AQP2 correlates with the severity of enuresis in children.


1985 ◽  
Vol 133 (1) ◽  
pp. 150-150 ◽  
Author(s):  
A.E. Broadus ◽  
K.L. Insogna ◽  
R. Lang ◽  
A.F. Ellison ◽  
B.E. Dreyer

1998 ◽  
Vol 160 (3 Part 1) ◽  
pp. 664-668 ◽  
Author(s):  
NEIL A. BRESLAU ◽  
HOWARD J. HELLER ◽  
ALFREDO A. REZA-ALBARRAN ◽  
CHARLES Y.C. PAK

1979 ◽  
Vol 67 (3) ◽  
pp. 385-391 ◽  
Author(s):  
Isam A. Hamed ◽  
Anthony W. Czerwinski ◽  
Bard Coats ◽  
Christian Kaufman ◽  
Dale H. Altmiller

2011 ◽  
Vol 185 (3) ◽  
pp. 915-919 ◽  
Author(s):  
Charles Y.C. Pak ◽  
Khashayar Sakhaee ◽  
Margaret S. Pearle

1998 ◽  
Vol 26 (1) ◽  
pp. 65-69 ◽  
Author(s):  
A. van Faassen ◽  
E. M. C. van der Ploeg ◽  
H. M. L. Habets ◽  
R. van der Meer ◽  
R. J. J. Hermus ◽  
...  

1987 ◽  
Vol 137 (4) ◽  
pp. 690-692 ◽  
Author(s):  
Morton Urivetzky ◽  
Jay Motola ◽  
Susan Braverman ◽  
Arthur D. Smith

1984 ◽  
Vol 58 (1) ◽  
pp. 161-169 ◽  
Author(s):  
ARTHUR E. BROADUS ◽  
KARL L. INSOGNA ◽  
ROBERT LANG ◽  
LAWRENCE E. MALLETTE ◽  
DAN A. ORENLANG ◽  
...  

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