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H syndrome with bilateral choroidal osteoma: Coincidence or association?
Eur J Ophthalmol
January 2025
Department of Medical Genetics, Istanbul Medipol University, Istanbul, Turkey.
Purpose: To report a case with bilateral corneal arcus and bilateral choroidal osteoma associated with H syndrome.
Methods: Descriptive case report.
Results: A 16-year-old girl with H syndrome was followed up in the pediatric nephrology clinic for chronic renal failure and was consulted to the ophthalmology clinic.
Cardiac strangulation with chronic ab-extrinseco occlusion of the left-circumflex artery from an epicardial lead: a case report.
Eur Heart J Case Rep
January 2025
Department of Radiological and Hematological Sciences, Section of Radiology, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8 - 00168 Rome, Italy.
Background: Cardiac strangulation (CS) from epicardial pacing leads (EPLs) is a rare and potentially lethal mechanical complication associated with epicardial pacemaker (PM) implantation.
Case Summary: We report a case of a 44-year-old-female patient presenting with chest and left shoulder pain in the absence of reported trauma with history of congenital atrioventricular block treated with epicardial PM implantation during the childhood and subsequent transvenous reimplantation over the years. Troponin I resulted within normal values and ECG, transthoracic echocardiography and chest X-ray documented no acute cardiopulmonary findings.
Comparison of ocular posterior segment parameters in the pediatric population with migraine without aura and tension-type headache.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, University of Health Sciences, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Türkiye.
Background: This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.
Methods: The study included 31 patients with MWA, 29 patients with TTH, and 38 healthy controls between 6 and 18 years of age. For all participants, the detailed eye examination and measurements including peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vessel densities and foveal avascular zone (FAZ) parameters measured by optical coherence tomography (OCT) and OCT-angiography (OCTA), were obtained from the patient files.
Severe mycoplasma pneumoniae pneumonia combined with cold agglutinin disease and pulmonary embolism in childhood: A case report and review of the literature.
Afr J Reprod Health
November 2024
Department of Pediatrics, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai 264000, Shandong, China.
This was a case report and literature review, aimed to strengthen the understanding and therapy of mycoplasma pneumoniae (MP) pneumonia combined with cold agglutinin disease and pulmonary embolism in children. A 7-year-old boy was taken to the hospital with fever for 7 days, cough for 5 days, and recurrent cyanosis at the extremities of one day duration. Pulmonary artery computed tomography angiography (CTA) showed pulmonary embolism, double pneumonia, and pleural effusion.
View Article and Find Full Text PDFClinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Am J Ophthalmol
December 2024
Department of Anatomy and Cell Biology (D.H.J.), Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea. Electronic address:
Purpose: To characterize the clinical phenotype and disease progression in patients with NMNAT1-associated Leber congenital amaurosis (LCA) within the Korean population.
Design: Retrospective, observational case series.
Subjects: Fourteen patients with LCA with biallelic variants of NMNAT1 at a single tertiary referral center.
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