Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.
Introduction: Spinal teratoma is an extremely rare entity as it represents 0.10-0.60% of all spinal tumors. It is mainly diagnosed during the first two decades of life and can be associated with spinal dysraphism. Aim: To present a case of an asymptomatic mature teratoma of filum terminale, incidentally diagnosed in an elderly patient admitted to the Neurosurgery Department for multiple traumas after falling from 3 meters height. Case description: A 76 year-old patient was admitted in the 2 nd Neurosurgery Department, "Prof. Dr.N. Oblu" Emergency Clinical Hospital, Iaşi with multiple traumas after falling from 3 meters height. The patient presented bilateral paresthesia of lower limbs and urinary incontinence. Radiography of the dorsal-lumbar spine column in emergency highlighted a dorsal -lumbar fracture (D12-L1) with medullar compression. MRI examination revealed a neoformation of filum terminale that filled almost the entire spinal canal, which had a composite, fatty and fluid structure, corresponding to L2-L4 and compressing the medullary cone. The neurosurgical decision was the excision of the entire neoformation. The histopathological examination of excised pieces revealed the presence of adipose tissue mixed together with striated and smooth muscle fibers, small and large cysts lined by various epithelia ranging from malpighian keratinized multilayered to simple ciliated columnar epithelium. No immature or malignant cells were identified and therefore the diagnosis was mature teratoma of filum terminale. The evolution of the patient was favorable with the remission of the neurological deficit. Conclusions: Our patient is one of the oldest patients diagnosed up to date with a mature teratoma of filum terminale. Moreover, the location of neoformation at the lumbar (L2-L4) level is extremely rare. This case also highlights the fact that this mature teratoma was discovered by chance, when the patient came to the Neurosurgery Department for a spinal injury due to a falling from a tree.
The aim of our study was to correlate systemic bone loss by evaluating human Dickkopf-related protein 1 (Dkk-1) biomarker compared to horizontal bone loss as well as the presence and size of periapical lesions assessed by dental X-ray (ortopantomography—OPT) and cone beam computed tomography (CBCT) in patients with cancer in the ears, nose and throat (ENT) region vs. healthy controls. The study included 63 subjects divided into a study group of 33 cancer patients with ENT cancer (larynx/oropharynx/sinuses) and a control group of 30 healthy individuals. Blood samples were collected from both groups to assess Dkk-1 level using a sandwich enzyme immunoassay. The dental radiological examination consisted of a panoramic X-ray and a CBCT in order to appraise the horizontal bone loss, the presence and size of the periapical lesions in 2D vs. 3D images. The panoramic X-ray showed that in the control group, the maximum bone loss reached 13.2 mm, with an average of 4.930 ± 3.258 mm, while in the study group, the maximum horizontal bone loss was 11.3 mm, with an average of 5.191 ± 2.109 mm. The CBCT 3D investigation, when compared to the OPT, showed increased values for horizontal bone loss, both in the control group and in the study group; in the control group, the maximum bone loss reached 14.10 mm, with an average of 5.736 ± 3.471 mm, and in the study group, the maximum value was 12.40 mm, and the average was again slightly higher (6.152 ± 2.519 mm). The mean value for Dkk-1 in cancer patients was 1.209 ± 0.110 ng/mL, significantly lower than the value observed in healthy patients (1.712 ± 0.100 ng/mL). CBCT revealed higher values for the investigated parameters when compared to panoramic X-rays. Taking into account the preliminary nature of our study, we observed a significant correlation between the level of bone loss recorded by the Dkk-1 biomarker and radiological dental examination in patients with ENT cancer when compared to the control group.
Many developments were made in the area of endovascular treatment of intracranial aneurysms, but this procedure also requires a good assessment of vascular anatomy prior to intervention. Seventy-six cases with brain aneurysms were selected and 1:1 scale 3D printed models were created. We asked three interventional neurosurgeons with different degrees of experience (ten years, four years, and a fourth-year resident) to review the cases using CTA (computed tomography angiogram) with MPR (multiplanar reconstructions) and VRT (volume rendering technique) and make a decision: coil embolization or stent-assisted coil embolization. After we provided them with the 3D printed models, they were asked to review their treatment plan. Statistical analysis was performed and the endovascular approach changed in 11.84% of cases for ten-year experienced neurosurgeons, 13.15% for four years experienced neurosurgeon, and 21.05% for residents. The interobserver agreement was very good between the ten years experienced interventionist and four years experienced interventionist when they analyzed the data set that included the 3D printed model. The agreement was higher between all physicians after they examined the printed model. 3D patient-specific printed models may be useful in choosing between two different endovascular techniques and also help the residents to better understand the vascular anatomy and the overall procedure.
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