Classification of epileptic seizures and epilepsy syndromes as either focal or generalized is a fundamental and early part in the diagnostic process and is generally fairly easily accomplished. However, in patients with idiopathic generalized epilepsies, seizure and EEG features may suggest, particularly to the unwary, the occurrence of focal rather than generalized seizures. Misinterpretation of typical absence seizures as focal seizures, especially as temporal lobe seizures and of myoclonic seizures as focal clonic seizures, is a relatively common error and focal features during generalized tonic-clonic seizures may also be quite common. Sequences of seizures in idiopathic generalized epilepsies (such as absences or jerks followed by generalized tonic-clonic seizures) may also cause confusion. Versive and circling seizures are seizure types whose ictal semiology is clearly focal; nevertheless such seizures are described in idiopathic generalized epilepsies accompanied by generalized EEG discharges. The occurrence of focal EEG abnormalities in certain idiopathic generalized epilepsy syndromes is common. This is best known in juvenile myoclonic epilepsy.
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http://dx.doi.org/10.1111/j.1528-1167.2005.00319.x | DOI Listing |
Objective: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs).
Methods: We identified potential AIS patients from the electronic medical records at the University of Iowa Hospital and Clinics and the Stead Family Children's Hospital using a screening filter based on the 10th edition of the International Classification of Diseases (ICD-10) codes and interleukin-1 antagonists. Diagnostic criteria for adult-onset Still disease, systemic juvenile idiopathic arthritis, Behçet disease (BD), familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome and chronic nonbacterial osteomyelitis (SAPHO-CNO) were reviewed for each patient.
Andrology
January 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.
View Article and Find Full Text PDFTransl Pediatr
December 2024
Department of Pediatrics, Tianjin Medical University General Hospital, Tianjin, China.
Background: Early menarche is associated with both physical and psychosocial problems. Based on psychological and physical health considerations, for girls with early menarche, some parents and physicians may elect to use gonadotropin-releasing hormone agonists (GnRHa) to delay menstruation. This study aimed to explore the effects of GnRHa treatment on the final height of girls with early menarche and build the models to predict the final adult height (FAH).
View Article and Find Full Text PDFSpine Deform
January 2025
Department of Spine Surgery, University Hospital of Vall d'Hebron, 129 Passeig Vall d´Hebron, 08035, Barcelona, Spain.
Purpose: To determine patient-reported clinical status in a cohort of patients operated on during adolescence for adolescent idiopathic scoliosis (AIS) using Cotrel-Dubousset instrumentation after a minimum follow-up (FU) of 25 years.
Methods: Multicentric cross-sectional observational study. We assessed the clinical status of patients using the lumbar-pain numeric rating scale (NRS), ODI, SRS-22r, SF-36, and EQ-5D-5L.
Sci Rep
January 2025
Department of Psychiatry, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, 565-0871, Osaka, Japan.
Diagnosing Alzheimer's disease (AD) through pathological markers is typically costly and invasive. This study aims to find a noninvasive, cost-effective method using portable electroencephalography (EEG) to detect changes in AD-related biomarkers in cerebrospinal fluid (CSF). A total of 102 patients, both with and without AD-related biomarker changes (amyloid beta and phosphorylated tau), were recorded using a 2-minute resting-state portable EEG.
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