We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in the jejunum. This patient shows some unique aspects of PJS. No other such large gastric polyp in a Peutz-Jeghers child is reported in the literature. The large size of the gastric polyp with lack of symptoms is unusual and poses a unique challenge in terms of management and surgical resection.
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http://dx.doi.org/10.1155/2018/6895974 | DOI Listing |
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFBiomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFDigit Health
December 2024
School of Physiotherapy, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
Objective: Given the well-accepted health benefits, it is important to identify scalable ways to support people with long-term conditions (LTCs) to remain physically active. This systematic review aimed to evaluate the effect of digital tools on the maintenance of physical activity (PA) amongst this population.
Methods: Electronic databases were searched for randomised controlled trials investigating the effect of digital tools on PA maintenance at least three months post-intervention compared with a non-digital control in participants with long-term conditions.
J Dairy Sci
December 2024
Department of Pathology and Microbiology, Faculty of Veterinary Medicine, Université de Montréal, Saint-Hyacinthe, QC, Canada; Regroupement FRQNT Op+lait, Saint-Hyacinthe, QC, Canada. Electronic address:
Microbial infections of the mammary gland often cause mastitis, and it can lead to substantial economic losses within the dairy industry due to its direct negative impact on milk production and composition and the associated treatment costs. Somatic cell count has emerged as a critical indicator in monitoring udder health, and recently, the large-scale availability of differential cell count analysis potentially offers new insights into underlying physiological processes. Therefore, the main objective of this study was to estimate the variation of DSCC and SCC of individual quarter-level milk samples of cows according to 1) their intramammary infectious status; 2) parity of the cow; 3) quarter location; and 4) DIM at the time of sampling.
View Article and Find Full Text PDFJ Dairy Sci
December 2024
Department of Pathology and Microbiology, Faculty of Veterinary Medicine, Université de Montréal, Saint-Hyacinthe, QC, Canada; Regroupement FRQNT Op+lait, Saint-Hyacinthe, QC, Canada. Electronic address:
Mastitis, an inflammation of the udder primarily caused by an intramammary infection, is one of the most common diseases in dairy cattle. Somatic cell count (SCC) has been widely used as an indicator of udder inflammation, assisting in the detection of subclinical mastitis. More recently, differential somatic cell count (DSCC), which represents the combined proportion of lymphocytes and polymorphonuclear leukocytes, has become available for routine dairy milk screening, though it was not yet widely studied.
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