Transferrin phenotypes were determined in 3380 sera of unrelated persons of the western region of Germany with 97.60 percent for TfC and 2.40 percent for Tf variants. Identification was achieved by immunochemical means or through autoradiography. Relative mobilities in some variants were measured using Tf B2C (0.7) as reference. Application of Tf variants is demonstrated in paternity cases.
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Cureus
December 2024
Medicine, Florida International University, Herbert Wertheim College of Medicine, Miami, USA.
Our case report characterizes a rare presentation of mid-ventricular Takotsubo cardiomyopathy (TTC) in a patient with suspected myocarditis as an underlying cause. Mid-ventricular TTC is a rare variant of TTC presenting with overlapping symptoms and physical exam findings of acute coronary syndrome, which often leads to misdiagnosis as myocardial infarction. Our case is of a 77-year-old female patient with a history of hyperlipidemia, right breast ductal carcinoma in situ, and diverticular disease who presented to the emergency department for evaluation of chest pain radiating to the jaw with associated nausea and vomiting.
View Article and Find Full Text PDFClin Psychopharmacol Neurosci
February 2025
Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
Objective: Language disorder, a prevalent developmental disorder, impedes children's communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in and genes, along with environmental variables, in language disorder's etiology.
Methods: Between September 2022 and March 2023, thirty children aged 2-7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.
Neurocase
January 2025
Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, P.R. China.
Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.
View Article and Find Full Text PDFPediatr Cardiol
January 2025
Department of Pediatric Cardiology, Seattle Children's Hospital, Seattle, WA, USA.
Fetal echocardiography (FE) is recommended for parents with congenital heart disease (pCHD) due to a 3-6% recurrence risk of congenital heart disease (CHD). This study aimed to evaluate the cost of FE for detecting neonatal CHD in pCHD. FE data were collected between 12/2015 and 12/2022.
View Article and Find Full Text PDFPediatr Allergy Immunol
January 2025
School of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: Childhood allergic diseases are a global concern; quite limited studies have examined the impacts of parental age at delivery. This study aimed to explore the association between separate and combined parental age at delivery and childhood allergic diseases and whether adequate breastfeeding could modify this association.
Methods: This cross-sectional study sampled 15,976 children from Shanghai, China.
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