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101.
Background
Angiomatoid fibrous histiocytoma (AFH) is a rare, soft tissue sarcoma, which is slow growing with low metastatic potential. We recently had a patient present with AFH, which had a palatal perforation and it looked like a cyst in the occlusal view. Therefore, the radiological and histological features of AFH are reported herein. In addition, the differential diagnosis for this lesion is also discussed with a review of the literature.Case report
A 23-year-old woman presented with a spontaneous perforation of the palate. Clinically, a painless and ulcerative lesion was shown on the mid-palate area. Radiological findings revealed a well-demarcated, homogeneous, oval-shaped radiolucent lesion in the occlusal view. Histological examination with incisional biopsy, showed a relatively well-defined cystic-like mass including tumor cells. Taking into consideration the histological and immunohistochemical findings, the presented lesion was diagnosed as AFH. Under general anesthesia, the patient underwent a modified cylindrical partial maxillectomy including safety margins.Discussion
In the present case, clinically differential diagnosis can be made with various diseases that have palatal perforations such as trauma, infection, neoplasia, collagen vascular disease, and idiopathic conditions. The treatment recommended in the literature has been radial excision. The prognosis of the tumor has been favorable. 相似文献102.
103.
Dinu Antony Anita Becker‐Heck Maimoona A. Zariwala Miriam Schmidts Alexandros Onoufriadis Mitra Forouhan Robert Wilson Theresa Taylor‐Cox Ann Dewar Claire Jackson Patricia Goggin Niki T. Loges Heike Olbrich Martine Jaspers Mark Jorissen Margaret W. Leigh Whitney E. Wolf M. Leigh Anne Daniels Peadar G. Noone Thomas W. Ferkol Scott D. Sagel Margaret Rosenfeld Andrew Rutman Abhijit Dixit Christopher O'Callaghan Jane S. Lucas Claire Hogg Peter J. Scambler Richard D. Emes UKK Eddie M.K. Chung Amelia Shoemark Michael R. Knowles Heymut Omran Hannah M. Mitchison 《Human mutation》2013,34(3):462-472
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss, historically termed “radial spoke defect.” We sequenced CCDC39 and CCDC40 in 54 “radial spoke defect” families, as these are the two genes identified so far to cause this defect. We discovered biallelic mutations in a remarkable 69% (37/54) of families, including identification of 25 (19 novel) mutant alleles (12 in CCDC39 and 13 in CCDC40). All the mutations were nonsense, splice, and frameshift predicting early protein truncation, which suggests this defect is caused by “null” alleles conferring complete protein loss. Most families (73%; 27/37) had homozygous mutations, including families from outbred populations. A major putative hotspot mutation was identified, CCDC40 c.248delC, as well as several other possible hotspot mutations. Together, these findings highlight the key role of CCDC39 and CCDC40 in PCD with axonemal disorganization and IDA loss, and these genes represent major candidates for genetic testing in families affected by this ciliary phenotype. We show that radial spoke structures are largely intact in these patients and propose this ciliary ultrastructural abnormality be referred to as “IDA and microtubular disorganisation defect,” rather than “radial spoke defect.” 相似文献
104.
Dru Haines Marie Martin Susan Carson Olivia Oliveros Sage Green Thomas Coates Jennifer Eile Leann Schilling Bogan Dinu Tito Mendoza Eric Gerstenberger Felicia Trachtenberg Elliott Vichinsky 《British journal of haematology》2013,160(5):680-687
Pain is not a symptom generally associated with thalassaemia. However, providers have noted increasing patient reports of pain, creating an impetus for this prospective, observational assessment of pain in thalassaemia patients. The primary study goals were to assess pain prevalence, severity, location, and potential risk factors. This was a multicentre, prospective study of thalassaemia patients receiving care at 12 Thalassaemia Clinical Research Network sites. Pain was assessed using the Brief Pain Inventory. Two hundred and fifty‐two thalassaemia patients ranging in age from 12 to 71 years (mean 28·8) were enrolled. Sixty‐four per cent reported experiencing pain during the last 4 weeks, 22% of whom reported pain on a daily basis. Ordinal regression analysis of pain ratings demonstrated significant (P < 0·001) correlation of increased age with increased pain, irrespective of diagnosis, transfusion status, gender, bone density, chelator type or iron overload. Eighty‐one per cent reported having pain for 1 year or longer and 31% reported pain for five or more years. Pain is a major cause of morbidity and an unrecognized problem for patients with thalassaemia. Age is the strongest predictor of frequency and severity. Little else is known about the aetiology and predictors of this pain syndrome. 相似文献
105.
106.
107.
Adewale AJ Liu Q Dinu I Lampe PD Mitchell BL Yasui Y 《American journal of epidemiology》2008,168(6):559-562
Heterogeneity in the molecular characteristics of a disease presents a challenge to investigators attempting to identify biomarkers of the disease. Preceding the biomarker discovery effort with stratification within a heterogeneous disease group, which amounts to grouping disease cases into more homogeneous subtypes, seems to be a natural strategy for discovering subtype-specific biomarkers. This is because biologically more homogeneous subgroups are presumably easier to distinguish from the nondiseased than the entire heterogeneous disease group. The misleading benefits of this two-step approach are illustrated using an example from a protein biomarker discovery project for breast cancer. A potential analytical pitfall in this framework is explained using a conditional probability argument. 相似文献
108.
Telepsychiatry in the 21st century poses a wide range of legal and ethical challenges. The authors review issues related to licensure, credentialing, privacy, security, confidentiality, informed consent, and professional liability in the use of telepsychiatry services and illustrate the discussion with hypothetical clinical vignettes. It is clear that there will be a need in the immediate future to create legal instruments as well as formal professional ethical guidelines for the practice of telepsychiatry. 相似文献
109.
Dinu?Stanescu Bahram?Bodaghi Du?Le Thi Huong Dan?Milea B.?Goulet-Salmon Jean-Charles?Piette Phuc?LeHoangEmail author 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2003,241(4):339-342
Purpose
To report a case of papilledema and pseudotumor cerebri developed in association with Sjögren's syndrome.Methods
Case-report of a 38-year-old woman with history, imaging and histology confirming the diagnosis of both pseudotumor cerebri and Sjögren's syndrome who presented with bilateral decrease of vision.Results
Papilledema associated with pseudotumor cerebri was observed in both eyes. The patient's visual acuity improved transiently with the administration of intravenous steroids and cyclophosphamide; subsequently she needed a ventriculoperitoneal shunt.Conclusion
Sjögren's syndrome should be considered in the different etiologies of pseudotumor cerebri. The major improvement with corticosteroids and ventriculoperitoneal shunt makes prompt diagnosis essential.110.
OBJECTIVE:S: The issue of whether telepsychiatry is worth the cost or whether it pays for itself is controversial. This study investigated this question by reviewing telepsychiatry literature that focused on cost. METHOD:S: Approximately 380 studies on telepsychiatry published from 1956 through 2002 were identified through MEDLINE, PsycINFO, and cross-referenced bibliographies. Of these, 12 studies with samples of more than ten persons or programs focused specifically on the cost of telepsychiatry. RESULTS: The methods of examining cost used in the 12 studies were cost-feasibility, cost surveys, direct comparison of costs of telepsychiatry and in-person psychiatry, and cost analysis. It was concluded that in seven of the studies reported, telepsychiatry was worth the cost. One study reported that telepsychiatry was not financially viable. Three studies of cost-effectiveness reported the break-even number of consultations, the number that make telepsychiatry comparable in cost to in-person psychiatry. One review concluded that the lack of a clear business plan contributed to the difficulty of determining whether any of the programs was cost-effective. CONCLUSION:S: Telepsychiatry can be cost-effective in selected settings and can be financially viable if used beyond the break-even point in relation to the cost of providing in-person psychiatric services. Whether governmental or private health agencies value telepsychiatry enough to assume its cost is a question that remains to be answered. 相似文献