Results 101 to 110 of about 20,669 (238)

Renal tubular acidosis in pediatrics: A review article

, 2019
BackgroundRenal tubular acidosis was first defined by the incapacity to lower urinary pH below 5.5, normal GFR associated with hyperchloremia and a normal plasma anion gap, and later the definition added tubular impairment in the bicarbonate reabsorption.
Leena Moshref; King Abdulaziz University Hospital, Jeddah, Saudi Arabia, Rana H Moshref; King Abdulaziz University Hospital, Jeddah, Saudi Arabia, Osama Y Safdar; King Abdulaziz University Hospital, Jeddah, Saudi Arabia   +2 more
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Severe Pediatric Snakebite With Coagulopathy and Compartment Syndrome: Conservative Management With Plasma Exchange

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Therapeutic plasma exchange was successfully used in a child with severe snakebite envenomation complicated by refractory venom‐induced consumptive coagulopathy and suspected compartment syndrome, leading to full recovery and avoidance of surgical intervention.
Zain Mohammed Al Muqbel, Abdulrahman Al‐Majmuei, Ali Haider Ali, Naseem Yusuf Fahad, Reema Ajjawi, Amal Al Dailami, Afshan Lone, Manal Al Maskati, Nasser Mohamed Mansoor   +8 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Renal tubular acidosis - underrated problem?

, 2012
Renal tubular acidosis (RTA) is a hyperchloremic metabolic acidosis characterized by a normal anion gap and normal (or near normal) glomerular filtration rate in the absence of diarrhoea. Inherited isolated forms of renal tubular acidosis are not common.
Ciechanowski, Kazimierz, Golembiewska, Edyta   +1 more
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Design and prototype of an external quality assurance program for urine bicarbonate

, 2011
This dissertation validates a Beckman-Coulter DxC(R) assay for total bicarbonate in urine and then proceeds to design, prototype and cost an inter-laboratory comparison (ILC) program for the above urine bicarbonate based on the validation.
Benjamin, Ryan
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Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

A clinical case of renal tubular acidosis type 1 in a 1-month old baby

, 2017
Renal tubular acidosis is a group of tubular diseases of the kidneys, whiсh are characterized by disorders of bicarbonate reabsorption, secretion of hydrogen ions, or a combination of both defects and cause metabolic acidosis with preserved glomerular ...
E V Voljanjuk, I J Lutfullin
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Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Renal tubular acidosis in primary Sjogren's syndrome

, 1992
Renal tubular acidosis (RTA) is a frequent extraglandular manifestation of Sjogren's syndrome; however, no distinction on the incidence of this renal tubular defect between primary and secondary Sjogren's syndrome has been reported.
Mavridis, A. A., Elisaf, M. S., Siamopoulos, K. C., Drosos, A. A., Moutsopoulos, H. M.   +4 more
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Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions

MedComm, Volume 7, Issue 7, July 2026.
Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An, Yi An, Mengwei Chen, Longlong Wu, Rong Wang   +4 more
wiley   +1 more source