A 9-day-old male baby was hospitalized after his birth due to some swells under the skin. The hard consistency nodules observed under the skin all over the body of the patient were of different size, and presented lesions, among which the biggest was 1 × 1 cm. No lesions were observed on the fingers. By superficial ultrasonography, multiple isoechoic hypoechoic lesions were observed among the muscle plan. In thoracolumbar magnetic resonance imaging, multiple massif lesions retaining peripheral contrast (the biggest was 1.7 × 1.4 cm large) had been observed under the skin muscle plans, between the muscles of the extremities. The biopsy was positive for smooth muscle actin, but negative for desmin, S100, and CD34. These findings were diagnosed as infantile digital fibromatosis (IDF) (inclusion body fibromatosis). The case was presented with an objective to illustrate and remind that IDF can be observed in babies without finger involvement.
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http://dx.doi.org/10.4103/0019-5154.108085 | DOI Listing |
Clin Pharmacol Ther
December 2024
Translational Disease Modeling, Translational Medicine and Early Development, Sanofi, Bridgewater, New Jersey, USA.
Pompe disease is a rare, progressive neuromuscular disease caused by deficient lysosomal glycogen degradation, and includes both late-onset (LOPD) and severe infantile-onset (IOPD) phenotypes. Due to very small patient numbers in IOPD and the high phenotypic heterogeneity observed in this population, a quantitative systems pharmacology (QSP)-based "digital twin" approach was developed to perform an in silico comparison of the efficacy of avalglucosidase alfa vs. the standard of care, in a virtual population of IOPD patients.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 65/1 Via dell'Istria, 34137 Trieste, Italy.
Biomimetics (Basel)
November 2024
Department of Computer Engineering, College of Computing & Informatics, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.
Infantile hemangioma (IH) is a vascular anomaly observed in newborns, with potential severe complications if left undetected. Consequently, researchers have turned to artificial intelligence (AI) and digital imaging (DI) methods for detection, segmentation, and assessing the treatment response in IH cases. This paper conducts a systematic literature review (SLR) following the Kitchenham framework to scrutinize the utilization of AI and digital imaging techniques in IH applications.
View Article and Find Full Text PDFLab Invest
December 2024
Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic; Center for Precision Medicine, University Hospital Brno, Brno, Czech Republic; Department of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic. Electronic address:
Despite significant improvement in the survival of pediatric patients with cancer, treatment outcomes for high-risk, relapsed, and refractory cancers remain unsatisfactory. Moreover, prolonged survival is frequently associated with long-term adverse effects due to intensive multimodal treatments. Accelerating the progress of pediatric oncology requires both therapeutic advances and strategies to mitigate the long-term cytotoxic side effects, potentially through targeting specific molecular drivers of pediatric malignancies.
View Article and Find Full Text PDFGenes Chromosomes Cancer
September 2024
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
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