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51.
Chu MW Adams C Yared K Ball W Dhingra S Rosenbloom A 《The Canadian journal of cardiology》2011,27(6):868-868.e13
Bioprosthetic mitral valves rarely obstruct. We present an older woman who presented with rapidly progressive dyspnea 4 years after bovine mitral replacement. Investigations demonstrated severe mitral stenosis with large, obstructive masses within the previous mitral prosthesis and an elevated eosinophil count. She underwent urgent reoperative mitral replacement and tricuspid valve repair through a 4-cm right minithoracotomy under hypothermic, fibrillatory arrest. Pathologic analysis revealed eosinophilic infiltrates in the obstructive masses and normal endomyocardial biopsies. She made an uneventful recovery and was discharged on steroids to suppress the eosinophilia. Repeat echocardiography demonstrated a well-functioning porcine valve without leaflet restriction or obstruction. 相似文献
52.
Cottinet SL Bergemer-Fouquet AM Toutain A Sabourdy F Maakaroun-Vermesse Z Levade T Chantepie A Labarthe F 《Journal of inherited metabolic disease》2011,34(2):515-522
Danon disease is an X-linked lysosomal disorder, characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental
retardation. We report a family with a novel mutation, in which the mother and her three sons were affected with various clinical
presentations. A massive hypertrophy of the left ventricle was the predominant feature in the three male patients, with different
degrees of severity of cardiac symptoms, from isolated palpitations to cardiac failure and sudden death. Muscle pain and weakness
were also variable, but constantly associated with increased plasma CK levels. Finally, the male patients had variable degree
of a mental retardation. The mother had an attenuated phenotype, limited to a mild hypertrophic cardiomyopathy with premature
ventricular contractions diagnosed during her 40’s. Microscopy examination of skeletal muscle biopsy, performed in the youngest
patient, demonstrated atrophic myofibers with intracytoplasmic vacuoles suggesting lysosomal glycogen storage disease. Immunohistochemistry
analyses in muscle specimen showed no detectable Lysosomal-Associated Membrane Protein-2 (LAMP-2), in keeping with the diagnosis
of Danon disease. However, a very low expression of a shortened LAMP-2 protein could be evidenced by Western-blot in the patient’s
fibroblasts. Molecular investigations identified a novel splicing mutation (IVS6 + 1delG) in the LAMP-2 gene. This case report highlights the intrafamilial variability of Danon disease phenotype. In this case, morphological examination
of muscle biopsy, showing lysosomal storage myopathy, and immunohistochemistry analyses can provide key elements for orienting
etiologic investigations. 相似文献
53.
Burge J Saber NR Looi T French B Usmani Z Anooshiravani N Kim P Forrest C Phillips J 《The Journal of craniofacial surgery》2011,22(5):1810-1813
Infants with craniosynostosis involving the metopic and coronal sutures require cranio-orbital reshaping to correct craniofacial dysmorphologic feature and to improve facial balance. Currently, surgical techniques to create a balanced fronto-orbital region are based on the surgeon's subjective approach and artistic vision in creating a normal shape to the forehead. To date, the use of age-matched templates and computer-assisted design/computer-assisted manufacturing techniques in optimizing the outcomes of surgical intervention in this area have not been explored. The aim of this article was to describe the process of template generation and application based on age-matched controls using computer-assisted design/computer-assisted manufacturing technology and to present this application in 2 cases. 相似文献
54.
Kingdon DG Solomka B McAllister-Williams H Turkington D Gregoire A Elnazer H Thagadur M Hansen L Rathod S Gleeson S Zoha M Singh P Naeem F 《The British journal of psychiatry : the journal of mental science》2012,200(2):161; author reply 163-2; author reply 163
55.
56.
Comparison of service utilisation and costs of working age adults and older adults receiving treatment for psychosis and severe non‐psychotic conditions in England: implications for commissioning 下载免费PDF全文
57.
Yusuf Kibar Dominic Frimberger Bradley P. Kropp William Reiner 《Journal of pediatric urology》2009,5(4):274-278
ObjectiveTo assess parental satisfaction with e-mail consultations and fetal outcomes after consultation for offspring with 45,X/46,XY mosaicism.Patients and methodsA chart review was performed of prenatal and postnatal e-mail consultations concerning 45,X/46,XY mosaicism at our institution. Prenatally, mosaicism was detected by amniocentesis; postnatally by phenotype and subsequent genotyping. Parents e-mailed us for a second opinion after internet searches. Follow-up parental satisfaction was evaluated by e-mail.ResultsE-mail consultation occurred in six prenatal and eight postnatal cases. One of the eight postnatal cases had a prenatal diagnosis but without our second opinion. In 7/8 postnatal cases, abnormal neonatal phenotype was evaluated by genotyping. Termination of pregnancy was a consideration in all six prenatal consultations, although not discussed by us. One fetus was stillborn. Postnatal karyotype was mosaic in 11/13 surviving neonates. Phenotypes in surviving fetuses were normal male (2/13), hypospadias and an undescended testis or streak gonad (9/13), female with mild clitoral hypertrophy (1/13), and normal female (1/13). The stillborn fetus was noted only to have a penis.ConclusionAll parents reported in follow up that e-mail consultations provided them with enhanced clinical information, allowing them to make better informed clinical decisions. 相似文献
58.
Melike Kibar Öztürk MD 《International journal of dermatology》2019,58(11):1341-1349
Skin diseases are considered to be common in Nyala, Sudan. This study was carried out to verify the prevalence of skin diseases in Nyala. This prospective observational study included skin examination of a total of 1802 people: 620 patients who were evaluated in the outpatient clinics (OC) and 1182 people from orphanages and refugee camps (ORC) in Nyala, Sudan. χ2 test was used. The total prevalence of skin disorders in the sample was 92.6% (1670/1802). One thousand and fifty of 1182 (88.8%) people from ORC had a skin disorder. The most common skin diseases in this community were: fungal infections (32.6%), dermatitis/eczema (10.5%), bacterial skin infections (10.3%), disorders of skin appendages (8.7%), parasitic infestations (7.7%), atrophic skin disorders (7.4%), disorders of pigmentation (7.4%), hypertrophic skin disorders (6.4%), viral infections (5.8), benign neoplasm (1.9%), dermatoses due to animal injury (0.4%), bullous dermatoses (0.1%), and malignant neoplasm (0.1%). Hypertrophic and atrophic disorders of the skin were mainly lesions of scarification (mostly atrophic) (5.7%) and keloids (5.6%). Fungal infection, bacterial infection, and parasitic infestation were more common in the ORC group, while dermatitis and eczema, disorders of skin appendages, hypertrophic and atrophic disorders of the skin, disorders of pigmentation, and benign neoplasm were more common in the OC group. The prevalence of skin diseases in the rural Nyala was more than our expectation and was dominated by infectious skin diseases. In addition, infectious skin diseases were more common in ORC rather than OC. 相似文献
59.
Serhat Emeksiz Serhan Özcan Oktay Perk Emel Uyar Banu Çelikel Acar Ayşe Esin Kibar Gül Aslınur Özkaya Parlakay Namık Özbek Zahide Ekici Tekin Serkan Coşkun Fatma Aydın Elif Çelikel Ahmet Vedat Kavurt İbrahim Ece İkbal Ok Bozkaya Ahmet Ertürk Doğus Güney Emrah Şenel 《Transfusion and apheresis science》2021,60(3):103119
60.
Mumbuc S Karakok M Baglam T Karatas E Durucu C Kibar Y 《The Journal of international medical research》2007,35(2):237-241
Immunoreactivity of proliferating cell nuclear antigen (PCNA), Ki67 and p53 in inflammatory nasal polyp and inverted papilloma tissues was investigated. Immunohistochemistry was performed using a standard avidin-biotin-peroxidase method, and the immunoreactivity of PCNA, Ki67 and p53 was quantified by counting immunostained nuclei in at least 1000 epithelial cells. The mean labelling index (percentage of immunostained cells) for PCNA was 40.68 in the inverted papilloma group and 14.73 in the nasal polyp group, and for Ki67 was 15.43 in the inverted papilloma group and 2.64 in the nasal polyp group. Both of these differences between the inverted papilloma and nasal polyp groups were significant. Immunoreactivity for p53 was detected in five (35.7%) inverted papilloma patients and two (9.5%) nasal polyp patients. The increase in epithelial cell proliferation seemed to be greater in inverted papillomas than in inflammatory nasal polyps. Increased epithelial cell proliferation may be involved in the development of inverted papillomas. 相似文献