Results 31 to 40 of about 771,384 (234)

Distal renal tubular acidosis developments in its diagnosis and pathophysiology [PDF]

, 2010
This thesis describes two groups of experiments, both relating to the condition of distal renal tubular acidosis (dRTA). In the first, an alternative diagnostic test of dRTA to the ‘gold standard’ short ammonium chloride (NH4Cl) test was assessed ...
Walsh, S.B.
core  

A Micropeptide Component of the OGDH Complex Modulates ATP Production in the TCA Cycle

Advanced Science, EarlyView.
This study identified a mitochondrial micropeptide encoded by a non‐canonical open reading frame (alt‐ORF) within the CTSB gene. This micropeptide named APPM (ATP production‐promoting micropeptide) is a novel component of the OGDHc complex in the TCA cycle. APPM localizes to the inner mitochondrial membrane and directly binds to OGDH, the E1 subunit of
Xinqiang Yin, Weiyan Qi, Lifen Lin, Huilin Zheng, Guoxiang Zhao, Quan Chen, Guoqiang Shao, Yifan Wu, Jialiang Hu, Hanmei Xu   +9 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

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations [PDF]

, 2006
Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive,
Taija K. Nicoli, Oliver M. Wrong, Lesle, J. Bruce, Tanner, Michael J. A., Taija, K. Nicoli, Keng, E. Choo, Ruiz-Linares, Andres, Wrong, Oliver M., Michael J. A. Tanner, Andres Ruiz-Linares, Keng E. Choo, Lesley J. Bruce   +11 more
core   +1 more source

Precision Nanomedicine for Traumatic Neural Injury: Functional Paradigms and Translational Frameworks

Advanced Science, EarlyView.
This review presents a pathology‐driven framework unifying nanomedicine across TBI, SCI, and PNI. Epidemiological evidence and comparative single‐cell transcriptomic reanalysis define shared pathological modules, injury‐specific effectors, and therapeutic bottlenecks. Six functional paradigms connect nanomaterial structure and biological fate to injury‐
Mouyuan Sun, Shuangyang Li, Zhixu He, Jingyi Xie, Yaxian Luo, Xuankai Fan, Jingyu Zhang, Luying Qin, Lianjie Peng, Tao Qiu, Tian Zhang, Huiming Wang, Mengfei Yu   +12 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

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

A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia [PDF]

, 2012
Distal renal tubular acidosis (dRTA) presents itself with variable clinical manifestations and often with late expressions that impact on prognosis. A 45-day-old male infant was admitted with stopping growth, difficult feeding and vomiting after meals ...
NURCHI, ANNA MARIA, Pinna A, Ripoli C, Marras S, Fenu M. L   +4 more
core   +2 more sources

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

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