Results 31 to 40 of about 62,260 (164)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Comparative acute toxicity of intravenous paclitaxel and sirolimus in rats

Current Research in Toxicology
Aim: In view of the exploration of sirolimus (rapamycin) as balloon coating for peripheral intravasal treatment and the reports on unfavorable tolerance of daily low-dose sirolimus, the aim of the study was to investigate potential toxicological effects ...
Jing Xie, Denise Schuett, Ulrich Speck, Tobias Haase   +3 more
doaj   +1 more source

Low-dose oral sirolimus and the risk of menstrual-cycle disturbances and ovarian cysts: analysis of the randomized controlled SUISSE ADPKD trial. [PDF]

PLoS ONE, 2012
Sirolimus has been approved for clinical use in non proliferative and proliferative disorders. It inhibits the mammalian target of rapamycin (mTOR) signaling pathway which is also known to regulate ovarian morphology and function.
Matthias Braun, James Young, Cäcilia S Reiner, Diane Poster, Fabienne Krauer, Andreas D Kistler, Paulus Kristanto, Xueqi Wang, Yang Liu, Johannes Loffing, Gustav Andreisek, Arnold von Eckardstein, Oliver Senn, Rudolf P Wüthrich, Andreas L Serra   +14 more
doaj   +1 more source

Nanostructured drug delivery systems for posterior segment eye diseases: Strategies to defy ocular barriers

BMEMat, EarlyView.
Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen, Ying Yao, Yan Zhang, Xinyu Shi, Ling Bai, Yang Zhong, Yan Zhang, Kun Zhang   +7 more
wiley   +1 more source

Drug Interaction between Sirolimus and Ranolazine in a Kidney Transplant Patient

Case Reports in Transplantation, 2014
Purpose. The case of a kidney transplant recipient who experienced a probable drug interaction between sirolimus and ranolazine is reported. Summary.
Joanna C. Masters, Mita M. Shah, Ashley A. Feist   +2 more
doaj   +1 more source

Vascular Calcification: Mechanisms, Models, and Therapies

iNew Medicine, EarlyView.
ABSTRACT Vascular calcification represents an active multifactorial process that mirrors several key features of skeletal bone mineralization. Clinically, it is characterized by diminished arterial compliance and increased arterial wall stiffness, both of which serve as independent predictors of significant adverse cardiovascular events.
Wenya Zhu, Shu Yang, Ziyi Chen, Xiaoxiao Yang, Zhen Liang, Yuanli Chen   +5 more
wiley   +1 more source

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, EarlyView.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
wiley   +1 more source

Development and Physicochemical Characterization of Sirolimus Solid Dispersions Prepared by Solvent Evaporation Method [PDF]

Advanced Pharmaceutical Bulletin, 2014
Purpose: The aim of the present investigation was preparation and characterization of sirolimus solid dispersions by solvent evaporation technique to improve its dissolution properties.
Shahram Emami, Hadi Valizadeh, Ziba Islambulchilar, Parvin Zakeri-Milani   +3 more
doaj   +1 more source

Sirolimus-Induced Rash in a Kidney Transplant Patient

European Journal of Case Reports in Internal Medicine, 2022
Sirolimus is an inhibitor of the mammalian target of rapamycin, which is used in kidney transplant immunosuppression. The clinical spectrum of cutaneous adverse events associated with sirolimus use varies, with maculopapular rash being an uncommon side ...
Zachary Bruss, Shanza Farook, Sana Shah, Abu Baker Sheikh   +3 more
doaj   +1 more source

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source