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91.
92.
Al-Hassnan ZN Almesned AR Tulbah S Hakami A Al-Omrani A Al Sehly A Mohammed S Majid S Meyer B Al-Fayyadh M 《The American journal of cardiology》2012,109(11):1677-1680
Familial aortic aneurysm (AA) is mostly inherited as an autosomal dominant disorder. However, recessively inherited AA has also been observed but in association with skin manifestations of cutis laxa, which is caused by a mutated EFEMP2 gene. In the present study, we recruited 9 patients, from 4 unrelated consanguineous families, with recessively inherited AA. The index cases, their parents, and siblings underwent clinical evaluation and cardiac imaging. In the affected subjects, the clinical presentation ranged from sweating and cyanosis at 3 months of age to incidental findings in an asymptomatic adult. The echocardiogram revealed a wide spectrum of severity of the AA, with a Z-score varying from 5 to 33. Intrafamilial variability was also evident; 2 unrelated subjects were detected at 17 and 20 years of age through family screening. The skin manifestations of cutis laxa were not found in any patient. In 1 family, genome-wide single-nucleotide polymorphism analysis detected a homozygous block, shared by 2 affected siblings, on chromosome 11 at q13. Sequence analysis of EFEMP2, located on chromosome 11 at q13, identified a novel homozygous mutation (p.E161K) in all 9 affected subjects. In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation. In conclusion, our work suggests that in families with apparently recessively inherited AA, molecular analysis of EFEMP2 gene might be warranted. 相似文献
93.
94.
Fatih Albayrak Serkan Cerrah Ayse Albayrak Hakan Dursun Rahsan Yildirim Abdullah Uyanik 《Rheumatology international》2012,32(7):2181-2184
DRESS syndrome is a life-threatening adverse reaction characterized by skin rashes, fever, leukocytosis with eosinophilia or atypical lymphocytosis, lymph node enlargement, and liver or renal dysfunctions. DRESS syndrome related to valproic acid use is very rarely observed. We present a case of DRESS syndrome induced by sodium valproate, which developed and progressed fatally in a brucellosis patient with a positive c-ANCA test. A 19-year-old female patient presented with fever, cough, jaundice, and rash all over her body. Brucella Coombs test was positive at 1:1280 titers, and the Rose Bengal test was also positive. The involuntary movements were thought to be due to chorea, and the patient was started on sodium valproate 500 mg 2*1, as well as streptomycin 1?g flk 1*1 and tetradox capsules 2*1 for the brucellosis and was discharged. DRESS syndrome was suspected in the patient, and she was taken off sodium valproate and tetradox; N-acetylcysteine, ceftriaxon, prednizolone, and support treatment were started. When sodium valproate is used on its own, it carries no risk of inducing DRESS syndrome. However, in the case presented, another co-morbidity such as brucellosis and c-ANCA positivity was present. We believe that the presence of further co morbidity not yet reported in literature is important from the perspective of the risk of valproate-induced DRESS syndrome. Therefore, if sodium valproate treatment is to be started in patients, especially those with co morbidity, they must be closely monitored with clinical and laboratory observations. At the slightest suspicion of DRESS syndrome, all medication should be ceased immediately and the patient should be placed under continuous observation. 相似文献
95.
96.
Nesrin Karamustafalioglu Tevfik Kalelioglu Ozlem Tanriover Ferda Can Gungor Abdullah Genc Cem Ilnem 《Psychiatry investigation》2013,10(4):425-427
Priapism is defined as having prolonged (more than 6 h), and usually painful penile erection that occurs without a sexual desire or arousal. Only a very few priapism cases caused by ziprasidone are reported in the literature. In this case report we aimed to present a prolonged penile erection due to use of ziprasidone. 相似文献
97.
Mehmet Odabasi Cengiz Eris Mehmet Kamil Yildiz Hasan Abuoglu Sami Akbulut Abdullah Saglam 《International surgery》2013,98(3):277-281
Hepatic artery aneurysms are responsible for 12% to 20% of all visceral arterial aneurysms. Because most patients are asymptomatic, this disease is generally diagnosed incidentally during radiologic examination. Aneurysm rupture develops in 14% to 80% of cases, depending on the aneurysmatic segment''s diameter and location, as well as other etiologic factors. Mortality rates associated with rupture range between 20% and 70%. Thus, early diagnosis and timely initiation of medical interventions are critical to improve survival rates. Here, we present a male patient, age 69 years, with a hepatic artery aneurysm that was detected incidentally. The 3-cm aneurysm was detected on contrast-enhanced computed tomography and extended from the common hepatic artery to the hepatic trifurcation. A laparotomy was performed using a right subcostal incision. After dissection of the hepatoduodenal ligament, the common, right, and left hepatic arteries, as well as the gastroduodenal artery, were suspended separately. Then, the aneurysmatic hepatic artery segment was resected, and the gastroduodenal artery stump was ligated. An end-to-end anastomosis was formed between the left and common hepatic arteries, followed by an end-to-end anastomosis formed between the right hepatic artery and splenic artery using a splenic artery transposition graft. Postoperative follow-up examinations showed that both hepatic arterial circulations were good, and no splenic infraction had developed. 相似文献
98.
Suleyman Celebi Durdane Aksoy Betul Cevik Abdullah Yildiz Semiha Kurt Ali Ihsan Dokucu 《Journal of pediatric surgery》2013
Background
A prospective study was performed to evaluate the effect of inguinal hernia repairs on the genitofemoral nerve (GFN), and to compare postoperative electrophysiologic changes in the GFN of patients who had undergone either open or laparoscopic surgery.Methods
Seventy patients with a mean age of 6.48 ± 3.49 were enrolled in the study. Either open or laparoscopic techniques were used to operate on the patients' inguinal hernias. In all cases, bilateral GFN motor responses were investigated electrophysiologically using surface electrodes on three occasions: preoperatively, in the first month, and third month postoperatively. t-Tests were used to compare changes in the GFN.Results
Preoperative mean latency of the GFN in all groups was found to be significantly prolonged on the hernia side, compared with the non-hernia side (P = 0.01). Although no difference was observed in the latency levels of the GFN on the operated side at the preoperative and early postoperative stages, GFN latency levels decreased significantly in the late postoperative period in the laparoscopic group (P < 0.05). In the late postoperative period, amplitudes of GFN motor responses were significantly higher in the laparoscopic group than the open repair group (0.91 ± 0.11 mV and 0.57 ± 0.053 mV, respectively; P < 0.05).Conclusion
Preoperative prolonged latency of GFN on the hernia side is likely to occur due to the pressure on the nerve caused by the hernia mass. By surgically removing the hernia mass, this buildup of pressure is prevented, decreasing the latency of the GFN. The significantly higher motor response amplitudes and decreased latency in the late postoperative stage for the laparoscopic group may be due to the fact that this technique is less invasive. 相似文献99.
100.
Erhan Sari Abdulkadir Tepeler Emrah Yuruk Berkan Resorlu Tolga Akman Murat Binbay Abdullah Armagan Ali Unsal Ahmet Yaser Muslumanoglu 《Urological research》2013,41(6):499-504
The aim of the study to compare outcomes of flexible ureterorenoscopy in patients with different body mass index (BMI) scores and to explore whether the BMI has an effect on outcomes of RIRS. Five hundred and two patients who underwent flexible URS in 3 centers between 2008 and 2012 for the management of single upper urinary tract calculi were retrospectively reviewed. Patients were categorized as normal weight BMI 18.5 to 24.99 kg/m2, overweight 25 to 29.99 kg/m2, obese 30 to 39.99 kg/m2 and morbid obese >40 kg/m2.The groups were assessed in terms of demographic parameters including age, gender, stone size, intraoperative and postoperative variables. The mean patient age was 41.3 ± 15.51 (18–81) years and with an average BMI 26.68 ± 5.2 kg/m2 (16.64–55.15 kg/m²). Of the patients, 43.2 % had normal weight (NW), 32.2 % were overweight (OW), 21.9 % were obese (O) and 2.5 % were morbidly obese (MO). Stone-free rates after single procedure in NW, OW, O, MO groups were 60.8, 61.7, 73.6, 61.5 %, respectively (p = 0.079). Overall targeted stone-free rates were also similar in four groups (88.9, 90.1, 93.6, 90.4 %, p = 0.586). There were no statistically significant differences in the frequency of complications and mean hospitalization time among the groups (p > 0.05). In conclusion, this study demonstrated that flexible URS is a valuable option for the treatment of kidney stone in both obese and non-obese patients. BMI did not influence the postoperative outcomes. 相似文献