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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFSquamous cell carcinoma in rare case of Huriez Syndrome: The role of distant flaps.
JPRAS Open
March 2025
Hand and Microsurgery Unit, Jewish Hospital, Via Fulda 14, Rome 00148, Italy.
Context: Huriez syndrome is a rare de rmatological condition characterized by severe sclerotic and atrophic changes in the extremities (hands and feet) and an increased tendency to develop squamous cell carcinomas, with no established gold standard for the surgical treatment of these patients, who are difficult to manage due to the inability to perform reconstructions using local flaps.
Clinical Case: We report the case of a patient with severe Huriez syndrome who had developed SCC in both the hands and foot over time. After multiple surgeries at other centers, all resulting in recurrences, we planned wide excisions followed by reconstruction using distant flaps.
New Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.
Case Rep Oncol Med
December 2024
Pathology Department, Oncoclinicas Group, São Paulo, Brazil.
Li-Fraumeni syndrome (LFS) is one of the most common hereditary cancer predisposition syndromes in Brazil. The high frequency of the syndrome is due to a founding variant (R337H) in the country. LFS is characterized by a wide variety of malignant phenotypes.
View Article and Find Full Text PDFInverted supracondylar femoral dynamic compression plates for revision of construct failure following tibial cranial closing wedge ostectomy in three dogs.
J Small Anim Pract
December 2024
The Queen Mother Hospital for Animals, Royal Veterinary College, Hatfield, UK.
Construct failure is a rare complication of tibial cranial closing wedge ostectomy for the management of cranial cruciate ligament disease. Construct failure can present significant challenges for reconstruction. This case report describes three dogs with construct failure which were successfully revised by the repurposing of an inverted femoral supracondylar femoral plate as part of the revision.
View Article and Find Full Text PDFHigh- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Int J Mol Sci
November 2024
Engelhardt Institute of Molecular Biology, the Russian Academy of Sciences, 119991 Moscow, Russia.
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.
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