Results 21 to 30 of about 19,914 (203)

Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature

Journal of Medical Case Reports, 2019
Background Distal renal tubular acidosis is a relatively infrequent condition with complex pathophysiology that can present with life-threatening electrolyte abnormalities.
George Vasquez-Rios, David John Westrich, Isaac Philip, John C. Edwards, Stephanie Shieh   +4 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Sjogren's Syndrome in the Mask of Hypokalemia: A Case Report

Journal of Nepal Medical Association
Sjogren's syndrome is an autoimmune disease characterized by lymphocytic infiltration of exocrine glands resulting in xerostomia and dry eyes affecting entire body. A 40-year-old woman presented with generalized weakness and shortness of breath. She had
Krishna Bahadur Sodari, Pragyan Basnet, Krishna Adhikari   +2 more
doaj   +1 more source

Lithium‐related adverse drug reactions in children: A case–control study comparing lithium to second‐generation antipsychotics in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aims This study aimed to improve the understanding of lithium's safety profile by analysing the frequency and distribution of reported adverse drug reactions (ADRs) compared to second‐generation antipsychotics (SGAs). Methods Individual case safety reports from VigiBase (1968–October 2023) involving individuals older than 2 years, with lithium or SGAs ...
Lisa T. Ringeling, Ravish N. Gangapersad, Lillian Lieuw, Patrick C. Souverein, Eibert R. Heerdink, Pilar Garcia‐Gomez, Manon H. J. Hillegers, Birgit C. P. Koch, Bram Dierckx   +8 more
wiley   +1 more source

A physiology-based approach to a patient with hyperkalemic renal tubular acidosis

Brazilian Journal of Nephrology, 2018
Hyperkalemic renal tubular acidosis is a non-anion gap metabolic acidosis that invariably indicates an abnormality in potassium, ammonium, and hydrogen ion secretion.
Juliana Menegussi, Luiza Sarmento Tatagiba, Júlia Guasti P. Vianna, Antonio Carlos Seguro, Weverton Machado Luchi   +4 more
doaj   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

BMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu, Xuejian Wang, Wenyan Jiang, Wan Hairul Anuar Kamaruddin, Chunyan Fang, Pengfei Zhang   +5 more
wiley   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, EarlyView.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Pathological Proximal Femur Fracture in a Patient with Distal Renal Tubular Acidosis: A Case Report

Journal of Bone and Joint Diseases
The incidence of pathological fractures is on the rise, resulting in significant morbidity for patients and their families, while also imposing a considerable burden on the healthcare system.
Lyakat Khan, Pulak Sharma, Himanshu J. Ashtankar, Ujjwala Raina   +3 more
doaj   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

A randomized controlled trial of a multimodality digital health intervention to aid the delivery of the modified ketogenic diet therapy for epilepsy: The Keto eCoach trial protocol

Epilepsia Open, EarlyView.
Abstract Objective Dietary therapy is an effective treatment for drug‐resistant epilepsy; however, low adherence presents a significant barrier to use in the clinical setting. This study aims to evaluate a multimodality digital health intervention to overcome this barrier and improve outcomes in adults undertaking the modified ketogenic diet for ...
Neha Kaul, Lucy Vivash, Susanna Chen, Lillian King, Hannah Johns, Leonid Churilov, Zhibin Chen, John‐Paul Nicolo, Danielle Heaven, Ella Meredith, Ryan Ervine, Lisa Todd, Bernadette Zappa, Zanfina Ademi, Gopisankar Mohanannair Geethadevi, Michael Erlichster, Efstratios Skafidas, Terence J. O'Brien, Patrick Kwan   +18 more
wiley   +1 more source