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51.
Dinleyici EC Tekin N Dinleyici M Aksit MA 《Journal of pediatric endocrinology & metabolism : JPEM》2008,21(6):591-596
Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive condition which represents a complex of symptoms and laboratory findings with unknown cause and pathogenesis. Approximately 30 patients with WRS have been reported. We report here two newborns with WRS from Turkey with clinical and laboratory findings including bone marker evaluation. Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent scalp veins and facial dysmorphism. They also have severe osteopenia and elevated urinary deoxypyridinoline levels which have not been previously described in patients with WRS. Impaired lipid and hormone profiles including elevated prolactin and triglyceride level have been reported in patients with WRS. Our first patient also has excessive joint contractures, persisting thrombocytosis and rectal prolapse. We evaluated bone mineral findings in our two patients with WRS and recommend caution when handling children with WRS. 相似文献
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AIM: To report a case of pseudoxanthoma elasticum (PXE) in a 48 year old woman that presented with bilateral blurry vision.
METHODS: A case report
RESULTS: A 48-year-old woman presented with bilateral blurry vision and right eye metamorphopsia. The patient had a history of angioid streaks in the left eye ten years ago for which she had received laser surgery and had poor residual vision. Visual acuity was 20/60 in the right eye and count fingers at 6 feet in the left. Fundus examination showed subretinal hemorrhage and macular thickening on the right and a disciform macular scar with focal atrophic pigment epithelial lesions on the left. Both eyes had angioid streaks and peau d’orange pigmentary pattern of the retina. External examination showed several, yellow skin papules and plaques on the lateral and posterior neck, as well as prominent mental creases. Pathologic examination of skin biopsy confirmed the diagnosis of PXE, showing calcium deposition and fragmented, clumped elastic fibers in the deep reticular dermis. She responded well to intravitreal bevacizumab injections and visual acuity improved to 20/25 OD. Preventative care was emphasized and the patient was referred to cardiology, gastroenterology and human genetics for counseling.
CONCLUSION: PXE is a multisystem disorder affecting the dermatologic, ocular, and cardiovascular systems. Ophthalmic findings of angioid streaks and choroidal neovascularization in the presence of stereotypical skin changes and prominent mental creases should prompt evaluation for PXE. 相似文献
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Yazgan IC Kuscu MK Fistikci N Keyvan A Topcuoglu V 《International psychogeriatrics / IPA》2006,18(2):327-333
OBJECTIVE: The size of the elderly population is growing rapidly in Turkey. We aimed to characterize geriatric psychiatry consultations to obtain the characteristic pattern of these patients for further interventions. METHOD: A retrospective chart review was undertaken for each patient. RESULTS: One hundred and sixty-six patients with a mean age (+/- S.D.) of 75.5 +/- 6.6 years were included in this study. Most referrals came from the Department of Internal Medicine (42.2%), with sleep problems (42.1%), depression (29.5%) and anxiety (28.3%) being the most common reasons for referral. Hypertension was the most frequent medical diagnosis (53.6%). The mean number +/- S.D.) of medications used by each patient was 4.4 +/- 2.0. The leading psychiatric diagnosis at the end of the assessment was adjustment disorder (31.3%). CONCLUSION: Turkish geriatric psychiatry consultation patients display similar characteristics to elderly patients from other western countries. The main difference comes from diagnosis of adjustment disorder, which may be related to hospital conditions and strong family ties in developing countries. 相似文献
54.
Levent Duman Mustafa Cagri Savas Behcet Ilker Büyükyavuz Mustafa Akcam Gonca Sandal Aykut Recep Aktas 《Japanese journal of radiology》2013,31(6):401-404
Purpose
Neonatal gastric volvulus (GV) is a rare clinical entity with a challenging diagnosis. In this study, we aimed to identify clinical and radiological findings to aid in early diagnosis in neonatal GV.Materials and methods
The medical records of all neonates with GV were retrospectively reviewed. Diagnosis was made based on clinical findings and radiological images, and was documented by an upper gastrointestinal (UGI) contrast study.Results
A total of eight neonates were included in the study. The most common clinical presentations were non-bilious vomiting and epigastric distention. The findings highly suggestive for GV in plain radiographs include gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium.Conclusion
GV should be suspected in any newborn with non-bilious vomiting and epigastric distention. It is also important to focus on the clues in the plain radiographs. Gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium must alert the physicians to the possibility of GV. 相似文献55.
Visceral leishmaniasis (VL) caused by Leishmania infantum, is an endemic disease in Aegean and Mediterranean Regions among humans and dogs. In this study, a sero-epidemiological survey for VL and cutaneous leishmaniasis (CL), which both are sporadically reported in the region, were carried out in the villages of Eskisehir, Afyon, and Bilecik cities. The study was designed according to the location of the sporadic cases of VL and CL, and blood samples of 111 dogs were randomly collected. Lymph node aspiration samples were taken from dogs that have popliteal lymphadenopathy. Sand flies were also collected using CDC light traps in the several localities. The sera samples were screened using IFAT, ELISA, rk39 ELISA and dip-stick tests for anti-Leishmania antibodies. A total of 15 (13.51 per cent) dogs out of 111 were found to be seropositive by at least one of the tests. The seropositivity ratios among dogs were found to be 27.5 per cent (8/29), 9.09 per cent (4/44) and 7.8 per cent (3/38) in Afyon, Bilecik and Eskisehir cities respectively. Leishmania amastigotes were detected in 4 of the 14 lymph node aspiration samples (eight seronegative, six seropositive), and all of them were seropositive dogs. One year later, two of the dogs were found to be dead and the other two were severely ill. Among the 179 collected Phlebotomus specimens from, Phlebotomus major was found to be abundant (35.7 per cent) and the other species were P. simici (28.5 per cent), P. similis (34.7 per cent) and P. alexandri (1.1 per cent). In the study area, canine VL is more spread than human VL. Because dogs are playing an important role for VL in Mediterranean Basin, and development of appropriate control measures will be necessary for childhood VL. 相似文献
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Knackstedt Rebecca Couto Rafael A. Ko Jennifer Cakmakoglu Cagri Wu Daisy Gastman Brian 《Annals of surgical oncology》2019,26(11):3550-3560
Annals of Surgical Oncology - The goal of this study was to analyze patients who underwent a sentinel lymph node biopsy (SLNB) in melanoma with the combination of radioisotope lymphoscintigraphy... 相似文献
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Ozlem Haliloglu Burak Dogangun Bahar Ozcabi Hanife Ugur Kural Fatma Ela Keskin Hande Mefkure Ozkaya Fatma Colkesen Pamukcu Elif Bektas Burc Cagri Poyraz Hakan Buber Olcay Evliyaoglu Pinar Kadioglu 《Pituitary》2016,19(4):391-398