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Asude Durmaz Tahir Atik Hüseyin Onay Ebru Erbaş Canda Sema Kalkan Uçar Fikret Bademkıran Mahmut Çoker Özgür Çoğulu Ferda Özkınay 《Metabolic brain disease》2014,29(3):809-812
X linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs). It is caused by mutations in ABCD1 gene located at Xq28. More than 1,300 mutations have been identified to date which is unique to each patient. In this study we report the mutational analysis of 2 X-ALD patients (1 male and 1 female) showing variable clinical spectrum. The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. The male patient was found to be hemizygous for a novel mutation, p. R104P. In conclusion, while defining a novel mutation, the cases presented herein may contribute to the mutation and clinical spectrum of X-ALD. 相似文献
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Fahri Yeti?ir A. Ebru Salman Muhittin Aygar Faik Yaylak Mustafa Aksoy Abdussamet Yal?in 《International journal of surgery case reports》2014,5(7):385-388
INTRODUCTION
We aimed to present the management of a patient with fistula of ileal conduit in open abdomen by intra-condoid negative pressure in conjunction with VAC Therapy and dynamic wound closure system (ABRA).PRESENTATION OF CASE
65-Year old man with bladder cancer underwent radical cystectomy and ileal conduit operation. Fistula from uretero-ileostomy anastomosis and ileus occurred. The APACHE II score was 23, Mannheim peritoneal index score was 38 and Björck score was 3. The patient was referred to our clinic with ileus, open abdomen and fistula of ileal conduit. Patient was treated with intra-conduid negative pressure, abdominal VAC therapy and ABRA.DISCUSSION
Management of urine fistula like EAF in the OA may be extremely challenging. Especially three different treatment modalities of EAF are established in recent literature. They are isolation of the enteric effluent from OA, sealing of EAF with fibrin glue or skin flep and resection of intestine including EAF and re-anastomosis. None of these systems were convenient to our case, since urinary fistula was deeply situated in this patient with generalized peritonitis and ileus.CONCLUSION
Application of intra-conduid negative pressure in conjunction with VAC therapy and ABRA is life saving strategies to manage open abdomen with fistula of ileal conduit. 相似文献45.
Fahri Yeti?ir A. Ebru Salman Ruslan Mamedov Mustafa Aksoy Abdussamet Yalcin Cüneyt Kayaalp 《International journal of surgery case reports》2014,5(3):164-168
INTRODUCTION
To present the management of open abdomen with colorectal fistula by application of intrarectal negative pressure system (NPS) in addition to abdominal NPS.PRESENTATION OF CASE
Twenty-year old man had a history of injuries by a close-range gunshot to the abdomen eight days ago and he had been treated by bowel repairs, resections, jejunal anastomosis and Hartman''s procedure. He was referred to our center after deterioration, evisceration with open abdomen and enteric fistula in septic shock. There were edematous, fibrinous bowels and large multiple fistulas from the edematous rectal stump. APACHE II, Mannheim Peritoneal Index and Björck scores were 18, 33 and 3, respectively (expected mortality 100%). After intensive care for 5 days, he was treated by abdominal and intrarectal NPS. NPS repeated for 5 times and the fistula was recovered on day 18 completely. Fascial closure was facilitated with a dynamic abdominal closure system (ABRA) and he was discharged on day 33 uneventfully. There was no herniation and any other problem after 12 months follow-up.DISCUSSION
Management of fistula in OA can be extremely challenging. Floating stoma, fistula VAC, nipple VAC, ring and silo VAC, fistula intubation systems are used for isolation of the enteric effluent from OA. Several biologic dressings such as acellular dermal matrix, pedicled flaps have been used to seal the fistula opening with various success. Resection of the involved enteric loop and a new anastomosis of the intestine is very hard and rarely possible. In all of these reports, usually patients are left to heal with a giant hernia. In contrast to this, there is no hernia in our case during one year follow up period.CONCLUSION
Combination of intra and extra luminal negative pressure systems and ABRA is a safe and successful method to manage open abdomen with colorectal fistula. 相似文献46.
Ibrahim Ali Ozemir Cagri Bilgic Baris Bayraktar Sinan Aslan Ebru Zemheri Haydar Yalman Rafet Yigitbasi 《International journal of surgery case reports》2014,5(8):480-483
INTRODUCTION
Amyloid goiter (AG) is characterized by enlargement of the thyroid gland as a result of extensive amyloid deposition in a bilateral and diffuse manner.PRESENTATION OF CASE
A 58-year-old male patient was diagnosed of Crohn''s Disease (CD). He was admitted to our clinic with complaint of respiratory distress and rapid growth swelling in the neck. Ultrasound examination revealed huge multinodular goiter on both sides of thyroid gland. We performed bilateral total thyroidectomy. Pathological evaluation revealed AG.DISCUSSION
Amyloid leads to degeneration in tissues, thereby disrupts the function of the relevant organs. It is important to distinguish AG from other reasons of goiter, particularly thyroid medullary cancer that can cause amyloid deposition in thyroid gland. Secondary amyloidosis frequently involves thyroid gland at microscopic level, but rarely causes goiter. An analysis of current literature revealed that only few cases of AG occurred secondary to CD. Herein we presented a case of AG who has rapidly growing goiter that associated with CD.CONCLUSION
AG must be kept in mind in case of rapidly growing goiter, especially in patients with chronic inflammatory bowel diseases. 相似文献47.
Ekrem Unal Serkan Ozsoylu Ayse Bayram Mehmet Akif Ozdemir Ebru Yilmaz Mehmet Canpolat Abdulfettah Tumturk Huseyin Per 《Child's nervous system》2014,30(8):1375-1382
Purpose
Vitamin K deficiency bleeding is one of the most common causes of acquired hemostatic disorder in early infancy. Although vitamin K is practiced routinely after every birth in Turkey, children with type of vitamin K deficiency bleedings (L-VKDB) can be encountered. We aimed to evaluate the clinical features of the children with L-VKDB reported from Turkey.Methods
Between 1995 and 2013, 48 studies reporting 534 children with L-VKDB were evaluated in this study.Results
Of the 534 reported children (178 girls, 356 boys), 486 (91 %) were extremely breastfed. The most common bleeding sites were intracranial hemorrhage, gastrointestinal, and umbilical in 414 (77.4 %), 33 (6.2 %), and 33 (6.2 %) children, respectively, and 35 (6.6 %) children had been diagnosed incidentally without any bleeding. The etiology of 399 (74.7 %) children were classified as idiopathic, whereas 135 (25.3 %) were secondary. Intramuscular vitamin K was administered in 248 (46.4 %), not administered in 228 (42.7 %), and the administration of vitamin K were not determined in 58 (10.9 %) children. The outcomes of Turkish cohort showed that 111 (20.8) children died, 257 (48.1 %) cases developed neurologic deficit (mainly epilepsy and psychomotor retardation), and only 166 (31.1 %) patients recovered without squeal.Conclusions
The compliance of prophylactic measures in Turkey does not seem to be satisfactory. As a further measure of tomorrow, we vigorously emphasize that a national surveillance program may be initiated. An additional intramuscular dose or oral supplementation of vitamin K especially for exclusively breast-fed infants may reduce this catastrophic problem in our country. 相似文献48.
A. Ebru Salman Fahri Yetişir Mehmet Kılıç Özkan Önal Ahmet Dostbil Dilara Zeybek Mustafa Aksoy Figen Kaymak Tuğrul Çelik Süheyla Ünver 《Journal of anesthesia》2014,28(3):354-362
Purpose
Both parenteral and enteral glutamine have shown beneficial effects in sepsis and ischemia/reperfusion-induced acute lung injury (ALI). Oleic acid (OA) has been used to induce ALI in experimental studies. In this study, we investigated the effects of pretreatment of a bolus dose of enteral glutamine on ALI induced by OA in rats.Methods
Twenty-eight adult female Sprague–Dawley rats weighing 240–300 g were divided into four groups, 7 in each. Group I and group II received normal saline for 30 days, group III and group IV received glutamine at a dose of 1 g/kg for 10 days by gavage, and in group II and group IV 100 mg/kg OA was administered i.v. Histopathological examination of the lung was performed with light and electron microscopy. Levels of protein carbonyl, malondialdehyde, superoxide dismutase, catalase, and glutathione peroxidase levels were measured in tissue samples. Levels of tumor necrosis factor (TNF)-α, interleukin (IL)-6, IL-10, and total tissue oxidant status and total tissue antioxidant status were measured in serum samples.Results
Light microscopy showed that the total lung injury score of group IV was significantly lower than group II. Change in thickness of the fused basal lamina was not significantly different in groups II and IV under electron microscopy. TNF-α, IL-6, and IL-10 serum levels were higher in group II when compared to group I and significantly attenuated in group IV.Conclusion
Pretreatment with a bolus dose of enteral glutamine minimized the extent of ALI induced by OA in rats. 相似文献49.
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