Results 41 to 50 of about 11,139 (183)

Incidence of encephalopathy and comorbidity in infants with perinatal asphyxia: a comparative prospective cohort study

Frontiers in Pediatrics
BackgroundPrograms that aim to improve the detection hypoxic-ischemic encephalopathy (HIE) should establish which neonates suffering from perinatal asphyxia need to be monitored within the first 6 h of life.MethodAn observational prospective cohort study
Cristina Vega-del-Val, Juan Arnaez, Juan Arnaez, Juan Arnaez, Carlos Ochoa-Sangrador, Carlos Ochoa-Sangrador, María Garrido-Barbero, Alfredo García-Alix, Alfredo García-Alix   +8 more
doaj   +1 more source

Online detection of fetal acidemia during labour by testing synchronization of EEG and heart rate: a prospective study in fetal sheep. [PDF]

PLoS ONE, 2014
Severe fetal acidemia during labour can result in life-lasting neurological deficits, but the timely detection of this condition is often not possible. This is because the positive predictive value (PPV) of fetal heart rate (FHR) monitoring, the mainstay
Xiaogang Wang, L Daniel Durosier, Michael G Ross, Bryan S Richardson, Martin G Frasch   +4 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Nucleic Acid Therapeutics in Rare Disease: From Precision Medicine to Programmable Platforms

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nucleic acid therapeutics (NATs), including antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), messenger RNA (mRNA) therapeutics and programmable editing technologies, are reshaping the therapeutic landscape for inherited metabolic and genetic disease.
Tomasz Z. Tomkiewicz, Siyamini Sivananthan, Paul Gissen, Haiyan Zhou   +3 more
wiley   +1 more source

Association between the cumulative duration of abnormal cardiotocography patterns and fetal acidemia

The Journal of Maternal-Fetal & Neonatal Medicine
Objective To assess the association between the cumulative duration of abnormal cardiotocography (CTG) findings, classified using the Japan Society of Obstetrics and Gynecology (JSOG) five-tier cardiotocography (CTG) classification system, and fetal ...
Kazuhiro Kajiwara, Kohei Ogawa, Ohara Reiko, Nagayoshi Umehara, Akutsu Hidenori, Aikou Okamoto, Seiji Wada   +6 more
doaj   +1 more source

Gastroschisis‐Like Defect in a Crossbred Bovine Calf: Anatomical, Clinical and Surgical Perspectives

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
A gastroschisis‐like defect was observed in a one‐day‐old, crossbred bovine calf with evisceration of the pyloric abomasum and small intestine, likely resulting from prenatal rupture of an omphalocele. The calf presented with lethargy, hypothermia and metabolic derangements, along with elevated renal biomarkers.
Mohammad Raguib Munif, Tanjin Tamanna Mumu   +1 more
wiley   +1 more source

Computed tomographic characterisation and surgical management of a caudal mediastinal paraoesophageal abscess with associated pneumonia in a dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, entire, male German shorthaired pointer presented with acute respiratory distress, pyrexia and coughing following a period of boarding. Thoracic radiographs identified a caudal mediastinal mass effect with severe multilobar bronchopneumonia.
Yi Gu, Kyle L. Granger Jr., Alyson Frederick, Laura Roy‐Eitner, Stephanie Kline   +4 more
wiley   +1 more source

Hypocortisolaemia with gastrointestinal haemorrhage in a young cat

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐month‐old, female, spayed domestic shorthair presented with a 1‐week history of lethargy and anorexia. On admission, the cat had severe hypoglycaemia, and hypovolaemic and distributive shock were suspected. Mucosal defects identified by ultrasonography were suggestive of gastrointestinal ulceration.
Victoria J. Skinner, Bronwyn Zimmerman, Ivayla D. Yozova   +2 more
wiley   +1 more source