1,720,984 research outputs found
Functional correlation between WRN and SAMHD1 in DNA end-resection
No full textDouble-strand breaks (DSBs) can cause chromosome rearrangements, leading to cancer and some genetic diseases. WRN and SAMHD1 are proteins implicated in DSB processing and form a complex. Our study shows that SAMHD1 influences the nuclear recruitment of WRN in response to CPT-induced DSBs. Silencing SAMHD1 restores single-stranded DNA formation in WRN-deficient cells. However, DSB accumulation from CPT treatment is not recovered in WRN S1133A or WS cells when SAMHD1 is silenced. This suggests SAMHD1 cooperates with WRN in DNA damage repair and may have additional protective roles when WRN function in DSBs processing is impaired
In vivo confocal microscopy in a patient with conjunctival lymphoma
No full textA case of primary conjunctival mucosa-associated lymphoid tissue lymphoma studied by in vivo corneal confocal microscopy (IVCM) is described for the first time. Examination of the lower mediobulbar and forniceal conjunctiva of the left eye of a 37-year-old female patient showed a typical salmon-pink patch. IVCM examination of the conjunctival lesion showed irregular, polygonal, conjunctival bulbar epithelial cells with blurred edges and without visible nucleus. Many small, roundish, hyper-reflective cells were also seen. These cells were arranged diffusely or in nests in cyst-like hypo-reflective spaces. A few highly reflective cells were also visible among deep stromal collagen fibres. The IVCM picture recalled the histological profile of low-grade mucosa-associated lymphoid tissue lymphoma, characterized by sheets of neoplastic cells around reactive follicles. IVCM enabled non-invasive evaluation of the eye surface at high magnification and with good contrast, and could be useful for early differential diagnosis of conjunctival lesions. © 2007 The Author Journal compilation © 2007 Royal Australian and New Zealand College of Ophthalmologists
A case of primary botryoid conjunctival rhabdomyosarcoma
No full textBackground: Rhabdomyosarcoma is the most common childhood primary orbital malignancy, but the occurrence of this tumour in the conjunctiva is rare. Methods: A 14-year-old girl presented with a visible case of conjunctival mass in the left eye. The year before, the patient was referred to another hospital for a biopsy of a conjunctival mesenchymal tumour in the same site, which was periodically checked after the excision. We intervened by partially removing the conjunctival mass. Results: The histopathology revealed a botryoid rhabdomyosarcoma. The patient underwent chemotherapy and fractionated radiotherapy. The follow-up after three years revealed that the patient remained clinically tumor-free, with no ocular complication from the radiotherapy. Conclusions: It is evident that by not excising the tumour in its entirety it is therefore possible to preserve the underlying rectus muscles and not interfere with ocular motility. Subsequent radiotherapy and chemotherapy helped to destroy any residual tumour. Alternatively, surgical excision of the mass alone could lead to recurrence of the tumour after some months or years
Percutaneous hallux valgus surgery: Strengths and weakness in our clinical experience
No full textBackground and aim of the work: The Reverdin-Isham percutaneous osteotomy is indicated in the treatment of mild to moderate hallux valgus deformity. The aim of the work is the evaluation of the technique itself as a possible future landmark in the hallux valgus treatment. Methods: Between January 2010 and January 2011 we have performed 138 percutaneous osteotomies. The patients were assessed with a clinical and radiological control after a median five months follow up. The score proposed by the American Orthopaedic Foot and Ankle Society was used for the clinical evaluation. Results: The average score has improved from a preoperative median of 45 points to a postoperative median of 91 points. The technique has been largely accepted by the patients because of the speed of the procedure itself, the minimal invasiveness, the short pain and the immediate functional recovery. Conclusions: The results we have obtained with the Reverdin-Isham procedure have confirmed that this technique is a valid alternative to other percutaneous techniques and open surgical procedures. However the technique is not simple, it needs the strict indications observance and it needs a steep learning curve, those are features that impose further future studies. (www.actabiomedica.it
Technetium Tc 99m-labeled red blood cells in the preoperative diagnosis of cavernous hemangioma and other vascular orbital tumors
No full textObjectives: To evaluate technetium Tc 99m (Tc-99m) red blood cell scintigraphy as a diagnostic tool for orbital cavernous hemangioma and to differentiate between orbital masses on the basis of their vascularization. Methods: We performed Tc-99m red blood cell scintigraphy on 23 patients (8 female and 15 male; mean age, 47 years) affected by an orbital mass previously revealed with computed tomography (CT) and magnetic resonance imaging (MRI) and suggesting cavernous hemangioma. In our diagnosis, we considered the orbital increase delayed uptake with the typical scintigraphic pattern known as perfusion blood pool mismatch. The patients underwent biopsy or surgical treatment with transconjunctival cryosurgical extraction when possible. Results: Single-photon emission tomography (SPET) showed intense focal uptake in the orbit corresponding to radiologic findings in 11 patients who underwent surgical treatment and pathologic evaluation (9 cavernous hemangiomas, 1 hemangiopericytoma, and 1 lymphan gioma). Clinical or histologic examination of the remaining 22 patients revealed the presence of 5 lymphoid pseudotumors, 2 lymphomas, 2 pleomorphic adenomas of the lacrimal gland, 1 astrocytoma, 1 ophthalmic vein thrombosis, and 1 orbital varix. Conclusions: The confirmation of the preoperative diagnosis by Tc-99m red blood cell scintigraphy shows that this technique is a reliable tool for differentiating cavernous hemangiomas from other orbital masses (sensitivity, 100%; specificity, 86%) when ultrasound, CT, and MRI are not diagnostic. Unfortunately, Tc-99m red blood cell scintigraphy results were positive in 1 patient with hemangiopericytoma and 1 patient with lymphangioma, which showed increased uptake in the lesion on SPET images because of the vascular nature of these tumors. Therefore, in these cases, the SPET images have to be integrated with data regarding clinical preoperative evaluation and CT scans or MRI studies. On the basis of our study, a complete diagnostic picture, CT scans or MRI studies, and scintigraphic patterns can establish the preoperative diagnosis of vascular orbital tumors such as cavernous hemangioma, adult-type lymphangioma, and hemangiopericytoma
Chirurgia percutanea dell'alluce valgo: pregi e difetti nella nostra esperienza clinica.
No full textOrbital teratoma masquerading as lymphangioma
No full textOrbital teratoma in a newborn produces rapid and unilateral proptosis, which, combined with poor eyelid closure, may lead to corneal exposure and vision loss. Early surgical excision of the mass is recommended to preserve visual function. We report a case of an orbital teratoma masquerading as a lymphangioma in 6-month-old girl. The lesion was entirely excised using a transconjunctival approach with good cosmetic and functional results
Rituximab in primary conjunctiva lymphoma
No full textOur experience with a patient with a primary conjunctiva lymphoma who was treated with conventional dose of rituximab obtaining a complete response without acute and late local toxicity for the eye
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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