The overlap syndrome defines the relationship between obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD), and is a commonly noted but poorly studied disorder. Individuals who have the overlap syndrome have been recognized to have greater risk for pulmonary hypertension, right heart failure, and hypercapnia than patients who have either disorder alone. In patients who have advanced-stage COPD, concomitant OSA likely has significant adverse consequences. The interaction between these two diseases is unclear, however. Further clinical trials of the overlap syndrome are urgently needed.
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http://dx.doi.org/10.1016/j.ccc.2008.02.005 | DOI Listing |
J Cell Mol Med
January 2025
Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences, Beijing, China.
This study aims to elucidate the potential genetic commonalities between metabolic syndrome (MetS) and rheumatic diseases through a disease interactome network, according to publicly available large-scale genome-wide association studies (GWAS). The analysis included linkage disequilibrium score regression analysis, cross trait meta-analysis and colocalisation analysis to identify common genetic overlap. Using modular partitioning, the network-based association between the two disease proteins in the protein-protein interaction set was divided and quantified.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro, Jongno-Gu, Seoul 03080, Republic of Korea. Electronic address:
Objective: The present study aimed to investigate the initial clinical features of infantile-onset genetic epilepsy and compare initial seizure variables and responses to sodium channel blockers between SCN1A and non-SCN1A group.
Methods: We selected 122 patients, comprising 58 patients with SCN1A mutations and 64 patients with mutations in other than SCN1A, from our institutional database.
Results: Patients identified in the SCN1A group tended to present with fever, prolonged seizure duration, and hemiclonic seizure semiology.
Res Child Adolesc Psychopathol
January 2025
Department of Psychiatry and Behavioral Health, Penn State College of Medicine, Hershey, 500 University Dr, Hershey, PA, 17033, USA.
Recently, an association between cognitive disengagement syndrome (CDS), formerly sluggish cognitive tempo, and autism has been documented, but it is not known if the association is due to overlapping autism and CDS traits or if CDS is empirically distinct from autism. Mothers rated 2,209 children 4-17 years (1,177 with autism, 725 with ADHD-Combined type, and 307 with ADHD-Inattentive type) on the Pediatric Behavior Scale. Factor analysis of the Pediatric Behavior Scale items indicated that CDS and autism traits are empirically distinct from each other without cross-loading and are distinct from eight other factors (attention deficit, impulsivity, hyperactivity, oppositional behavior, irritability/anger, conduct problems, depression, and anxiety).
View Article and Find Full Text PDFBackground: Prostatic malignancy with paraneoplastic subacute encephalitis -A rare syndrome METHOD: We present a case of 76 year old male without any previous comorbidity and addiction who manifested a rapid neuropsychiatric decline with a frontotemporal syndrome over a period of 6 months. He was anemic and cerebrospinal fluid study showed 10 cells with lymphocytic predominance. The extensive workup of csf for infection, malignancy revealed nothing.
View Article and Find Full Text PDFNeuroradiol J
January 2025
Department of Neuroradiology, Mayo Clinic, USA.
Despite their similar nomenclature, Neurofibromatosis type 1 (NF1) and "Neurofibromatosis type 2" are discrete and clinically distinguishable entities. The name of "neurofibromatosis type 2" has been changed to NF2-related schwannomatosis, to reflect the fact that neurofibromas do not occur in this syndrome and therefore the name "Neurofibromatosis" is factually incorrect. Furthermore, multiple schwannomas, a hallmark feature of NF2, can also occur in patients with mutations in genes including SMARCB1 and LZTR1, all exhibiting overlapping clinical features.
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