Search results for "Case"
showing 10 items of 3855 documents
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
2011
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…
Metastatic Melanoma of the Tongue: A Rare Case
2012
Not available
Genetic variants in the MTHFR are not associated with fatty liver disease.
2020
The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 …
Inhaled nitric oxide as a rescue therapy in a preterm neonate with severe pulmonary hypertension: a case report
2018
Abstract Background Inhaled nitric oxide (iNO) has been approved for the treatment of persistent pulmonary hypertension of the newborn (PPHN) in term and near-term newborns. Its role in the management of persistent pulmonary hypertension in preterm infants is not clear. Although guidelines do not exist, some studies have shown that iNO could be used as a rescue therapy in preterm neonate with severe pulmonary hypertension. Case presentation We describe the case of a preterm neonate, born at 30 + 1 weeks of gestation, with hypoxic respiratory failure not responding to maximal conventional therapy. On the third day of life echocardiography showed severe pulmonary hypertension with right to le…
Arterial thrombosis in Philadelphia-negative myeloproliferative neoplasms predicts second cancer: a case-control study.
2020
Abstract Patients with Philadelphia-negative myeloproliferative neoplasm (MPN) are prone to the development of second cancers, but the factors associated with these events have been poorly explored. In an international nested case-control study, we recruited 647 patients with carcinoma, nonmelanoma skin cancer, hematological second cancer, and melanoma diagnosed concurrently or after MPN diagnosis. Up to 3 control patients without a history of cancer and matched with each case for center, sex, age at MPN diagnosis, date of diagnosis, and MPN disease duration were included (n = 1234). Cases were comparable to controls for MPN type, driver mutations and cardiovascular risk factors. The freque…
Bilateral jaws involvement of Burkitt?s lymphoma in a pediatric patient
2021
A case of Burkitt’s lymphoma with bilateral jaws involvement in a 5-year-old boy is reported discussing the dentist’s role in the diagnosis and management of this disease. The initial clinical diagnosis established of maxillary swelling causing trismus was a dentoalveolar abscess. The incisional biopsy was performed and histopathological analysis, including immunohistochemistry, confirmed the Burkitt’s lymphoma. The patient underwent treatment and remains free of the disease for 36 months of follow-up. The occurrence of intraoral bilateral jaws involvement of Burkitt’s lymphoma in child is unusual and its accurate diagnosis avoids complications in the patient’s treatment. Key words:Burkitt’…
Optical Coherence Tomography Characterization of Macular Changes Secondary to Arteriovenous Fistula
2017
Arteriovenous fistulas (AVFs) are abnormal shunts between the arterial and venous vascular systems. These usually produce ocular pain, increased intraocular pressure (IOP), and diplopia. Less frequently, they may cause retinal changes with visual impairment. Our purpose is to illustrate different retinal manifestations of AVF. We report the multimodal imaging study of three cases with retinal changes due to AVF, showing neurosensory retinal detachment, macular oedema, and macular ischemia. In conclusion, AVF may appear with different ophthalmic alterations. While usually increased IOP and diplopia are our main concerns, retinal study is mandatory, since a myriad of morphologic abnormalities…
Reliability of iCare ic100 Rebound Tonometry and Agreement With Goldmann Applanation Tonometry in Healthy and Post-myopic LASIK Patients.
2021
Rebound tonometry offers excellent reliability for obtaining intraocular pressure (IOP) measurements in healthy and post-myopic laser-assisted in situ keratomileusis (LASIK) patients regardless of corneal parameters and axial length and regardless of the instillation of ocular topical anesthesia.The purpose of this study was to assess the reliability of rebound tonometry, its agreement with Goldmann applanation tonometry (GAT) and its concordance after topical anesthesia in a group of nonoperated healthy patients and a group of post-myopic LASIK patients.Fifty-four patients were included in this prospective observational, case-control study. Patients were divided into 2 groups: control (n=3…
Isolated Pediatric Intramedullary Schwannoma: Case Report and Review of Literature
2018
Background: Intramedullary (IM) schwannomas are rare entities representing 0.3%−1% of intramedullary tumors and 1.1% of spinal schwannomas. Beside many theories proposed, their rare occurrence might be related to the absence of Schwann cells in the spinal cord. Pediatric IM schwannomas are uncommon, and in the absence of neurofibromatosis they are extremely rare. To date, few cases have been reported in the literature. Case Description: We describe the case of an 8-year-old female affected by a progressive paraparesis. Neuroradiologic investigations showed an oval-shaped mass at the level of T10-T11. The patient underwent surgery, performed under neurophysiologic monitoring. The patient was…
Chimney Technique with Nellix EndoVascular Aneurysm Sealing System in a Patient with Single Kidney and Juxtarenal Abdominal Aortic Aneurysm
2016
AbstractWe present a saccular asymptomatic juxtarenal abdominal aortic aneurysm in a 70-year-old male with a very short left renal artery supplying the only kidney. The case was successfully treated with the Nellix EndoVascular Aneurysm Sealing system combined with a chimney technique.