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Transient clitoromegaly in an extremely preterm twin infant with popliteal pterygium.
Pediatr Endocrinol Diabetes Metab
October 2024
Department of Obstetrics and Gynaecology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
Clitoromegaly can be congenital or acquired, and it is usually associated with exposure to androgen excess. Pathophysiological mechanisms responsible for transient clitoromegaly in premature female infants have not been fully elucidated. Herein, we present the case of an extremely premature female twin infant, with an extensive web of skin on the back of the left leg, hypoplastic left labia majora, and normal clitoris appearance at birth.
View Article and Find Full Text PDFDe Novo Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Int J Mol Sci
July 2024
Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy.
View Article and Find Full Text PDFExploring inertial sensor-based balance biomarkers for early detection of mild cognitive impairment.
Sci Rep
April 2024
School of Electrical Engineering and Computer Science, Gwangju Institute of Science and Technology, Gwangju, 61005, South Korea.
Dementia is characterized by a progressive loss of cognitive abilities, and diagnosing its early stages Mild Cognitive Impairment (MCI), is difficult since it is a transitory state that is different from total cognitive collapse. Recent clinical research studies have identified that balance impairments can be a significant indicator for predicting dementia in older adults. Accordingly, the current research focuses on finding innovative postural balance-based digital biomarkers by using wearable inertial sensors and pre-screening of MCI in home settings using machine learning techniques.
View Article and Find Full Text PDFLeft Ventricular Remodelling Associated with the Transient Elevated [Ga]Ga-Pentixafor Activity in the Remote Myocardium Following Acute Myocardial Infarction.
Mol Imaging Biol
August 2024
Department of Nuclear Medicine, First Hospital of Shanxi Medical University, No. 85 Jiefang South Road, Taiyuan, 030001, Shanxi, China.
Article Synopsis
- The study investigates the use of [Ga]Ga-Pentixafor to assess inflammation in the remote myocardium after acute myocardial infarction (AMI), focusing on its imaging effectiveness over time.
- In a series of imaging tests on AMI and sham rats, it was found that the uptake of [Ga]Ga-Pentixafor peaked at day 5 post-AMI, indicating a high level of inflammatory activity that returned to baseline by day 14.
- The increased uptake of [Ga]Ga-Pentixafor in the remote myocardium was significantly associated with cardiac function, particularly early after AMI, suggesting its potential for guiding future treatment strategies.
Bacterial biota associated with the invasive insect pest Tuta absoluta (Meyrick).
Sci Rep
April 2024
Department of Forest Sciences, University of Helsinki, Helsinki, Finland.
Article Synopsis
- *A study analyzed the microbiome of T. absoluta larvae and adults, revealing significant differences in bacterial communities with 433 shared genera and unique ones for each life stage.
- *The findings highlighted the dominance of certain bacterial phyla, with distinct genera enriched in larvae and adults, and indicated strong interactions within the microbial communities, emphasizing their potential role in pest management strategies.*
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