Results 91 to 100 of about 6,550 (239)

Renal stones in two children with two rare etiologies

Saudi Journal of Kidney Diseases and Transplantation, 2018
The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity.
Gurinder Kumar, Rami Raad AlAni
doaj   +1 more source

The impact of kidney stone disease on quality of life in high‐risk stone formers

BJU International, Volume 133, Issue 5, Page 570-578, May 2024.
Objective To assess the impact of kidney stone disease (KSD) and its treatment on the health‐related quality of life (HRQOL) of high‐risk stone formers with hyperparathyroidism, renal tubular acidosis, malabsorptive disease, and medullary sponge kidney. Patients and Methods The Wisconsin Stone Quality of Life questionnaire was used to evaluate HRQOL in
Anis Assad, Brendan L. Raizenne, Mohammed El Mehdi El Yamani, Almousa Saud, Seth K. Bechis, Roger L. Sur, Stephen Y. Nakada, Necole M. Streeper, Sri Sivalingam, Vernon M. Pais Jr, Ben H. Chew, Vincent G. Bird, Sero Andonian, Kristina L. Penniston, Naeem Bhojani   +14 more
wiley   +1 more source

PROPHYLAXIA OF CYSTINE CALCULOSIS BY α-MERCAPTOPROPIONYLGLYCINE ADMINISTERED CONTINUOUSLY OR EVERY OTHER DAY

Journal of Biological Research
Cystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the
A. Berio, A. Piazzi
doaj   +1 more source

Miscellanea. Folyóirat-referátumok. [PDF]

, 2015
Angiológia A claudicatio intermittens pragmatikus kezelési programja keretében adott cilostazol hatása (Effect of cilostazol prescribed in a pragmatic treatment program for intermittent claudication) Lee, C., Nelson, P. R. (Department of
Apor, Péter, Fischer, Tamás, Gáspárdy, Géza   +2 more
core   +1 more source

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
The 108 extended genes testing and spinal muscular atrophy SMN1 gene carrier screening process. The sequential screening mode for both the husband and wife, that is, blood was first drawn from the wife for examination, and then the husband was tested for the screening items containing positive pathogenic genes when they were found to be carriers ...
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang   +7 more
wiley   +1 more source

Homocystinuria, a Possible Solution of the Akhenaten’s Mystery [PDF]

, 2010
Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts.
Boris Brkljačić, Boris Olujić, Mislav Čavka, Tomislav Kelava, Vlatka Čavka, Željko Bušić   +5 more
core   +1 more source

Accuracy of urine pH testing in a regional metabolic renal clinic: is the dipstick accurate enough? [PDF]

, 2013
Urine pH is a useful marker for assessing treatment need and efficacy in patients with nephrolithiasis. Though the gold standard of measurement is with a pH electrode, dipsticks offer the convenience of cost, ease of use, and the possibility of patients ...
Caroline Robinson, Deborah Spencer, Fiona E. Karet Frankl, Oliver J. Wiseman, Tsong Kwong   +4 more
core   +1 more source

Meta-analysis of genome-wide association studies of anxiety disorders. [PDF]

, 2016
Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis.
Adkins, D., Aggen, S.H., Bigdeli, T., Boomsma, D., Byrne, E.M., Castelao, E., der Auwera, S.V., Direk, N., Fanous, A., Gordon, S., Grabe, H.J., Hartman, C.A., Heath, A.C., Hek, K., Henders, A.K., Hettema, J.M., Hofman, A., Homuth, G., Hottenga, J.J., Keller, M.C., Kutalik, Z., Lee, M., Madden, P.A., Maher, B.S., Martin, N.G., Medland, S.E., Middeldorp, C.M., Milaneschi, Y., Mirza, S.S., Montgomery, G., Mulder, C.L., Nauck, M., Nivard, M.G., Nolte, I.M., Oldehinkel, A.J., Otowa, T., Penninx, B.W., Pergadia, M.L., Preisig, M., Teumer, A., Tiemeier, H., Uitterlinden, A., van den Oord, E.J., van der Most, P.J., van Oort, F.V., Wolen, A., Wray, N.R.   +46 more
core   +2 more sources

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core  

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea, Green, Kevin A., Hardie, D. Grahame, Hawley, Simon A., Norman, David G., Scott, John W., Scullion, Gillian A., Stewart, Greg   +7 more
core   +6 more sources