Results 21 to 30 of about 1,265 (115)
Carbogen Inhalation Therapy for Epileptic Seizures: Mechanisms, Evidence, and Future Directions
CNS Neuroscience &Therapeutics, Volume 31, Issue 12, December 2025.Carbogen, a low‐dose CO2/O2 mixture, modulates brain pH to suppress hyperexcitability through rapid and reversible pH‐dependent mechanisms distinct from conventional antiseizure medications (ASMs). Preclinical and small clinical studies show efficacy in focal and absence seizures, whereas variable responses in other types highlight the need for ...
Li Wang +5 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin‐releasing hormone (GnRH). Here, we present a case of a 25‐year‐old male with a known history of Plummer–Vinson syndrome and celiac disease, who presented with the chief complaints of easy ...
Osama Ahmad +7 more
wiley +1 more source
Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances
MedComm, Volume 6, Issue 9, September 2025.Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei +6 more
wiley +1 more source
Brain and Behavior, Volume 15, Issue 8, August 2025.After preprocessing the rs‐fMRI and DTI data, nodes of the functional connectivity network (FCN) and structural connectivity network (SCN) were defined based on the Automated Anatomical Labeling (AAL 90) atlas consisting of 90 regions. Subsequently, the FCN and SCN were constructed accordingly.
Shuang Li +5 more
wiley +1 more source
Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre
Clinical Endocrinology, Volume 102, Issue 6, Page 649-655, June 2025.ABSTRACT Objective Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone ...
Jennifer M. Ladd +4 more
wiley +1 more source
A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome
Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.A database of 109 published individuals with LUMBAR syndrome was used to identify potential infant and maternal risk factors. Results showed that LUMBAR syndrome is significantly more common in full‐term, normal birth weight, singleton, girls. There were no reports in twins or other multiple births, no reports of familial recurrence, and no repeated ...
Denise W. Metry +2 more
wiley +1 more source
Routine 36‐week scan: diagnosis of fetal abnormalities
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki +5 more
wiley +1 more source
Short‐ and Long‐Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI
Prenatal Diagnosis, Volume 44, Issue 13, Page 1574-1584, December 2024.ABSTRACT Objective Providing accurate prenatal prognostication for expectant parents is challenging due to limited literature on factors impacting outcomes in children with congenital aqueductal stenosis (CAS). This study stratified CAS patients into isolated or complex categories (presence of additional intra‐ or extra‐cranial anomalies or genetic ...
Noah J. Smith +5 more
wiley +1 more source
Paediatric perspectives in the diagnosis of polyuria‐polydipsia syndrome
Clinical Endocrinology, Volume 101, Issue 6, Page 580-592, December 2024.Abstract The elucidation of the underlying cause of polyuria‐polydipsia syndrome (PPS) is a challenging—especially in the differentiation of partial defects of arginine vasopressin (AVP) secretion or action from primary polydipsia. The water deprivation test has been utilized for many decades, and its application in the paediatric population has been ...
Tony Huynh +2 more
wiley +1 more source
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
Birth Defects Research, Volume 116, Issue 11, November 2024.ABSTRACT Background Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high‐income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population‐based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.
Charlotte Dubucs +33 more
wiley +1 more source