Results 31 to 40 of about 856,105 (317)

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications

BMC Surgery
Introduction The Mitrofanoff principal entails creating a continent catheterizable channel, traditionally the appendix. In patients with nonfunctioning kidney, the ureter of this kidney can be an alternative This study aims to compare outcomes of ureter ...
Mohamed Mansy, Mostafa Kotb, Mohamed Abokandil, Amr Salama, Mohamed Gamal, Saber Waheeb, Mostafa Zain   +6 more
doaj   +1 more source

The mechanism of speech processing in congenital amusia: Evidence from Mandarin speakers [PDF]

, 2012
Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing.
WF, Thompson, Yi Xu (131145), Jiang, C., Yang Yufang, Fang Liu, Yufang Yang, Stewart, L; id_orcid, Yi Xu, Jiang, C, Liu, Fang, Xu Yi, Liu, F., Fang Liu (13271), Stewart, Lauren, Lauren Stewart, Cunmei Jiang (184659), Xu, Y, Jiang Cunmei, Xu, Y., Cunmei Jiang, Yang, Y, William Forde Thompson (184662), Jiang, Cunmei, Lauren Stewart (84113), Thompson William Forde, Stewart Lauren, Yufang Yang (142883), Xu, Yi, William Forde Thompson, Liu Fang, Yang, Y., Liu, F, Stewart, L, Yang, Yufang, Thompson, W. F., Thompson, WF, Thompson, William Forde   +36 more
core   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
core  

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Arndt, AK, Manickaraj, AK, Devriendt, K, Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Hoff, K, Brook, J David, Fitzpatrick, David F, Mercer, CL, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., FitzPatrick, David R., Hitz, Marc-Phillip, Lindsay, S, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Bu'lock, FA, Setchfield, K, Mital, S., Siebert, R, Mulder, B, FitzPatrick, David F., O'Kelly, IM, Bu’Lock, Frances A., Watkins, H, Bentham, Jamie, Bhattacharya, Shoumo, Breckpot, J, Lucassen, AM, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Gewillig, M, Kramer, HH, Schubert, S., Salmon, AP, Al Turki, Saeed, Schubert, S, D'Alessandro, Lisa C. A., Brook, JD, Wilson, David I, Bhattacharya, S., Wilson, DI, Gerety, Sebastian S., Al Turki, S, Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Hitz, MP, Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Harnack, C, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Toka, O, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Klaassen, S, Granados-Riveron, J, Low, J, Thornborough, Chris, D'Alessandro, LC, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Swaminathan, GJ, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., Hurles, ME, D'Alessandro, Lisa C.A., Abdul-Khaliq, H, Mital, S, Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Fitzpatrick, DF, Thienpont, B, Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Gerety, SS, Cosgrove, C, Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Bhattacharya, S, Bentham, J, Manickaraj, Ashok K., Brook, J.D., Thornborough, C, Louw, Jacoba, Hoff, Kirstin, Low, Jacoba   +138 more
core   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source