Results 31 to 40 of about 3,217 (148)

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Role of COHb Level in Newborns with ABO Blood Group Incompatibility in Predicting Newborn Jaundice Risk [PDF]

Forbes Tıp Dergisi
Objective: Neonates with hyperbilirubinemia are at risk of brain damage, and at least two-thirds of neonates show clinical signs of jaundice in the first week of life.
Kazım DARKA, Şahin TAKCI
doaj   +1 more source

CRIGLER- NAJJAR SYNDROME – CASE REPORT

Slovenska pediatrija, 2022
Crigler-Najjar syndrome is a rare genetic disorder that causes severe unconjugated hyperbilirubinaemia. The syndrome is caused by a mutation in the UGT1A1 gene, which results in a deficiency or complete lack of the UGT1A1 enzyme, which is responsible for
Anja Šelih, Manca Velkavrh
doaj   +1 more source

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel, Carolina Gorodetsky, Laura Cif, Nardo Nardocci, Alfonso Fasano   +4 more
wiley   +1 more source

Development of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real‐World Data

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.
ABSTRACT Bilirubin is a breakdown product of erythrocytes and plays a crucial role in elimination of heme‐containing proteins. After its synthesis in the reticuloendothelial system, unconjugated bilirubin is released into plasma and taken up into the liver.
Ahenk Zeynep Sayin, Lars Kuepfer
wiley   +1 more source

Exchange Transfusion Trends and Risk Factors for Extreme Neonatal Hyperbilirubinemia over 10 Years in Shiraz, Iran [PDF]

Iranian Journal of Medical Sciences
Background: Exchange transfusion (ET) is an effective treatment for acute bilirubin encephalopathy and extreme neonatal hyperbilirubinemia (ENH). It can reduce mortality and morbidity.
Fariba Hemmati, Seyed Moein Mahini, Mehrnoosh Bushehri, Amir Hossein Asadi, Hamide Barzegar   +4 more
doaj   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Routine Cord Blood Platelet Counts and Potential for Severe Neonatal Alloimmune Thrombocytopaenia (NAIT): A Cohort Study of 12 Yr. Experience at Middlemore Hospital, New Zealand

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 1, February 2026.
ABSTRACT Background Neonatal alloimmune thrombocytopaenia (NAIT) is a rare but potentially serious condition where maternal antibodies result in destruction of foetal and neonatal platelets. At Middlemore Hospital in south Auckland, routine cord blood platelet counts were performed over many years.
Galama Vela, Jill H. Meyer, Michael P. Meyer   +2 more
wiley   +1 more source

Localization of bilirubin in phospholipid bilayers by parallax analysis of fluorescence quenching1

Journal of Lipid Research, 2001
It has been proposed that the neurotoxicity observed in severely jaundiced infants results from the binding of unconjugated bilirubin to nerve cell membranes.
Stephen D. Zucker, Wolfram Goessling, Emma J. Bootle, Coreen Sterritt   +3 more
doaj   +1 more source

The Effect of Conjugated Bilirubin on the Measurement of Unbound Bilirubin

Acta Paediatrica, Volume 115, Issue 2, Page 468-472, February 2026.
ABSTRACT Aim Unbound bilirubin (Bf) is a stronger predictor of neurotoxicity in newborns than that of total serum bilirubin (TSB). Standard Bf assays rely on peroxidase methods (e.g., Arrows analyser), whereas UBCheck employs a near‐infrared fluorescence sensor.
Alan Kleinfeld, Andrew Huber, William Oh, Thomas Hegyi   +3 more
wiley   +1 more source