Results 221 to 230 of about 134,882 (291)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Recognising and managing albuterol-induced lactic acidosis. [PDF]

BMJ Case Rep
Baddam S, Muttineni S.
europepmc   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, EarlyView.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Lactate levels during anesthesia in patients undergoing craniopharyngioma surgery. [PDF]

Front Surg
Shen X, Cao X, Che X, Wang K, Qiao N.
europepmc   +1 more source

Increased Susceptibility of the Heart to Ventricular Fibrillation During Metabolic Acidosis

, 1966
Paul H. Gerst, William H. Fleming, James R. Malm   +2 more
openalex   +1 more source

Predictors of diabetic ketoacidosis in patients with insulin‐deficient diabetes phenotype initiating SGLT2 inhibitors

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims To identify predictors of diabetic ketoacidosis (DKA) in patients with an insulin‐deficient phenotype initiating sodium‐glucose cotransporter 2 inhibitor (SGLT2i) therapy. Materials and Methods This retrospective cohort study analysed data from 31 900 patients with diabetes aged 18–70 identified as having an insulin‐deficient phenotype ...
Anat Tsur, Gil Leibowitz, Matan J. Cohen, Avivit Cahn, Rena Pollack   +4 more
wiley   +1 more source

The association of umbilical hyperlactatemia with short- and tong-term outcomes in extremely low birth weight neonates: a matched cohort study. [PDF]

Eur J Pediatr
Hirsch L, Waitz M, Jenke A.
europepmc   +1 more source

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja, Asma A. Elashi, Najeha Anwardeen, Aleem Razzaq, Laila Hedaya, Shamma Almuraikhy, Ilhame Diboun, Karsten Suhre, Omar AlBagha, Mohamed A. Elrayess   +9 more
wiley   +1 more source

Fluid Selection in Renal Transplant Patients: Considerations for Hyperkalemia Management. [PDF]

Turk J Anaesthesiol Reanim
Tontu F.
europepmc   +1 more source