Objective: To present the etiological factors of patients with Retinal Vein Occlusion (RVO) under the age of 50 years.
Methods: The study was conducted at Ege University Medicine Faculty Department of Ophthalmology. The clinical records of patients with RVO under the age of 50 seen between January 2014 and March 2018 were analyzed retrospectively. Forty patients comprised the study. Detailed ophthalmologic examination was performed. Past medical history, drug use, thrombophilic features, hyperviscosity syndromes and pathologies that may cause vasculitis were noted.
Results: Forty patients, 22 (55%) male and 18 (45%) female, were included. Mean age was 41.6 ± 10.01 years. Mean intraocular pressure and best-corrected visual acuity were 16.8 ± 5.47mmHg and 0.76 ± 0.64 logMAR, respectively. Hyperhomocystenemia (15 patients, 37.5%), Behçet's disease (three patients, 7.5%), diabetes and/or hypertension (16 patients, 40%), methylenetetrahydrofolate reductase gene mutation (11 patients, 27.5%), prothrombin gene mutation (four patients, 10%) and factor V Leiden mutation (five patients, 12.5%) were present among the patients as etiological factor. Multiple etiological factors were detected in 11 (27.5%) patients. Factor V Leiden mutation and methylenetetrahydrofolate reductase gene mutation were detected in one patient (2.5%) with Behçet's disease. Four patients with diabetes and/or hypertension also had hyperhomocystenemia and one of them had additionally prothrombin gene mutation. Two patients with methylenetetrahydrofolate reductase gene mutation also had a factor V Leiden mutation and one of them had additionally a prothrombin gene mutation. Three patients with methylenetetrahydrofolate reductase gene mutation also had hyperhomocystenemia and one patient with prothrombin gene mutation also had methylenetetrahydrofolate reductase gene mutation.
Conclusions: Etiological factors that might result in RVO in young individuals should be investigated in detail. Targeted therapies may help to prevent development of new RVOs and potential vascular problems in other organs.
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http://dx.doi.org/10.12669/pjms.35.5.546 | DOI Listing |
Braz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
Curr Pharm Des
January 2025
Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, China Three Gorges University, Yichang, Hubei, China.
Background: The Prickle2 (Pk2) gene shows promising potential in uncovering the underlying causes of epilepsy, a neurological disorder that is currently not well understood. This paper utilizes the online tool PubMed to gather and condense information on the involvement of PCP channels and the associated roles of PCP pathway molecules in the onset of epilepsy. These findings are significant for advancing epilepsy treatment.
View Article and Find Full Text PDFClin Genet
January 2025
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis-splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle.
View Article and Find Full Text PDFDiabet Med
January 2025
Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice.
View Article and Find Full Text PDFChembiochem
January 2025
Eisai Co Ltd, Tsukuba Research Laboratories, JAPAN.
Marine natural products show a large variety of unique chemical structures and potent biological activities. Elucidating the target molecule and the mechanism of action is an essential and challenging step in drug development starting with a natural product. Odoamide, a member of aurilide-family isolated from Okinawan marine cyanobacterium, has been known to exhibit highly potent cytotoxicity against various cancer cell lines.
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