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21.
Jennie E. Murray Louise S. Bicknell Gökhan Yigit Angela L. Duker Margriet van Kogelenberg Sara Haghayegh Dagmar Wieczorek Hülya Kayserili Michael H. Albert Carol A. Wise January Brandon Tjitske Kleefstra Adilia Warris Michiel van der Flier J. Steven Bamforth Kurston Doonanco Lesley Adès Alan Ma Michael Field Diana Johnson Fiona Shackley Helen Firth C. Geoffrey Woods Peter Nürnberg Richard A. Gatti Matthew Hurles Michael B. Bober Bernd Wollnik Andrew P. Jackson 《Human mutation》2014,35(1):76-85
Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho‐reticular malignancies, significant microcephaly, and radiation hypersensitivity. Only 16 cases with mutations in LIG4 have been described to date with phenotypes varying from malignancy in developmentally normal individuals, to severe combined immunodeficiency and early mortality. Here, we report the identification of biallelic truncating LIG4 mutations in 11 patients with microcephalic primordial dwarfism presenting with restricted prenatal growth and extreme postnatal global growth failure (average OFC ?10.1 s.d., height ?5.1 s.d.). Subsequently, most patients developed thrombocytopenia and leucopenia later in childhood and many were found to have previously unrecognized immunodeficiency following molecular diagnosis. None have yet developed malignancy, though all patients tested had cellular radiosensitivity. A genotype–phenotype correlation was also noted with position of truncating mutations corresponding to disease severity. This work extends the phenotypic spectrum associated with LIG4 mutations, establishing that extreme growth retardation with microcephaly is a common presentation of bilallelic truncating mutations. Such growth failure is therefore sufficient to consider a diagnosis of LIG4 deficiency and early recognition of such cases is important as bone marrow failure, immunodeficiency, and sometimes malignancy are long term sequelae of this disorder. 相似文献
22.
The aim of this study was to investigate improvement in the cardiovascular response to isometric and isotonic exercises after reverting rhythm to sinus in patients with atrial fibrillation. Twenty seven cases with nonvalvular paroxysmal atrial fibrillation were included in the study. Sinus rhythm could not be restored in two cases so they were excluded. The remaining cases were divided into two groups according to the existence of cardiac diseasc. Group 1 (n:14, mean age. 60.8 +/- 14.9 years) included cases with cardiac diseases (8 of the patients had hypertension in addition to the cardiac disease) and group 2 (n:11, mean age. 64.8 +/- 13.9 years) included those without cardiac disease (patients with hypertension and diabetes mellitus). Isometric and isotonic exercise tests were performed in all of the patients before and 48 hours after the rhythm was reverted to sinus and the values in atrial fibrillation were compared with those in sinus rhythm (following cardioversion). The isotonic exercise period increased significantly in only group 1 patients following cardioversion (P = (0.0061). In both groups, the increase in heart rate during atrial fibrillation was significantly higher compared to those after being reverted to sinus, at all stages of the isotonic exercise (in groups 1 and 2, heart rate in patients with atrial fibrillation increased from 96.5 +/- 19.3 to 173.3 +/- 19.3 beats/min and 96.1 +/- 12.6 to 185.0 +/- 12.1 beats/ min, respectively; and in sinus rhythm, it ranged from 85.1 +/- 11.4 to 164.6 +/- 9.1 beats/min and 81.3 +/- 11.4 to 157.6 +/- 15.1 beats/min, respectively). Systolic arterial pressure increased significantly during atrial fibrillation in group 1, at the 2nd stage of the isotonic exercise test (P = 0.0070). In group 2, systolic arterial pressure increased significantly at the 3rd stage in sinus rhythm and at the 4th stage when in rhythm in atrial fibrillation. Also, diastolic arterial pressure increased significantly during atrial fibrillation only at the 3rd stage of the exercise. As a result, restoring sinus rhythm by cardioversion improves excessive heart rate responses to exercise significantly in patients with atrial fibrillation during both isometric and isotonic exercises. Also, we have revealed that the exercise time increased significantly by restoring sinus rhythm in patients with heart disease. 相似文献
23.
V. Kavuncu Umit Dundar I. H. Ciftci D. Evcik I. Yigit 《Rheumatology international》2009,29(7):841-845
Screening studies indicate a prevalence of celiac disease (CD) of up to 1% in populations of European ancestry, yet the majority
of cases remain undiagnosed. One of the common complication of CD is intestinal osteopathy or osteoporosis [bone mineral density
(BMD) based diagnosis]. Available data regarding the prevalence of CD in the patients with osteoporosis are limited and controversial.
The objective of this study was to perform serological testing to screen for CD among postmenopausal women with osteoporosis.
We studied 192 postmenopausal women with low BMD with a mean age of 62.75 ± 8.58 years. Among the patients, a total of 137
had osteoporosis and 55 had osteopenia. Venous blood samples were obtained for serological screening of CD and evaluation
of bone metabolism. The serological screening protocol consisted of determining serum level of IgA antigliadin antibodies
(AGA), IgG-AGA, IgA endomysial antibody (EMA), IgG-EMA. Subjects who were positive for both IgA-AGA and IgA-EMA were classified
as having CD. Bone metabolism was evaluated by serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, 25 (OH)
vitamin D, osteocalcin, serum C-telopeptide cross-linked collagen type I levels. Of the 192 patients evaluated, only one (0.5%)
was found to have positive for both IgA-AGA and IgA EMA tests and accepted as having CD. Prevelance of CD in postmenopausal
women with low BMD (0.5%) did not differ from prevelance of CD in normal healthy population (0.3–1%). BMD values at proximal
femur level were significantly lower in IgA-AGA (+) patients when compared to IgA-AGA (−) patients. However, the mean levels
of bone metabolism markers were found similiar in both IgA-AGA (+) and (−) patients. In conclusion, the results of our study
suggest that there is no need for routine screening of CD in postmenopausal women with osteoporosis. 相似文献
24.
Zeynep Alkan Cakir Ozgur Yigit Ismail Kocak A. Volkan Sunter Muzeyyen Dogan 《Auris, nasus, larynx》2010
Sulcus vocalis is the presence of a groove extending along the vibratory surface of a vocal fold and may result in dysphonia. Depending on the level of severity, this condition may require treatment involving complicated surgical techniques. Cases of sulcus vocalis are classified as physiological, vergeture, or pouch type. A clear explanation of the etiology has not been established, and the currently proposed congenital origin, as described in the literature, remains controversial. This paper presents findings from monozygotic twin sisters with bilateral sulcus vocalis; these patients had similar morphologies, vibratory characteristics, and vocal quality measurements, which support the theory of a congenital etiology. 相似文献
25.
Tugba Gursoy Gulsevin Tekinalp Sule Yigit Serafettin Kirazli Ayse Korkmaz Aytemiz Gurgey 《The journal of maternal-fetal & neonatal medicine》2008,21(2):123-128
OBJECTIVE: Meconium-stained amniotic fluid (MSAF) is thought to be a sign of fetal hypoxia, which causes activation of coagulation and inhibition of fibrinolysis. Inflammation is also seen in MSAF. On the other hand, thrombin activatable fibrinolysis inhibitor (TAFI) is an inhibitor of fibrinolysis and a regulator of vascular inflammation. For this reason, in this study we aimed to evaluate the relation between hypoxia, fibrinolysis, and inflammation by determining the levels of TAFI activity (TAFIa) in MSAF where inflammation was also thought to have a role in the pathogenesis. METHODS: The MSAF group consisted of 22 neonates; 20 neonates served as the control group. Plasma TAFIa levels were evaluated in all neonates in the first six hours of life. RESULTS: TAFIa levels were significantly higher in the MSAF group when compared with the control group and the levels correlated negatively with cord blood pH levels. CONCLUSIONS: Increased TAFIa levels in neonates with MSAF might be due to hypoxia. Inflammation observed in MSAF may also play an additional role in increased TAFIa expression. Although no clinical complication that can be attributed to this increase was seen, one should be alert to the complications of depressed fibrinolysis that might be observed in these neonates. 相似文献
26.
Kefi A Irer B Ozdemir I Tuna B Goktay Y Yorukoğlu K Esen A 《Urologia internationalis》2005,75(3):222-226
PURPOSE: Serum prostate-specific antigen (PSA) has a restricted predictive value for prostate cancer in the low-intermediate PSA range (2.5-10 ng/ml). Our aim was to determine the predictive value of the International Prostate Symptom Score (IPSS) for positive prostate needle biopsy (PNB) in patients who underwent transrectal ultrasound (TRUS)-guided prostate biopsy with a low-intermediate PSA level. PATIENTS AND METHODS: Between 2001 and 2004, the data of 389 consecutive patients applying for any urologic complaint to our department and who underwent TRUS-guided prostate biopsy due to an elevated serum PSA and/or abnormal digital rectal examination (DRE) were retrospectively analyzed. A total of 158 eligible patients with a low-intermediate PSA level were included in the study. The patient's age, PSA, free PSA, free/total PSA, prostate volume, PSA density (PSAD), pre-biopsy IPSS were compared in the positive and negative biopsy groups. RESULTS: Fifty-eight of 158 patients (37%) who underwent TRUS-guided prostate biopsy had positive PNBs. Forty-eight patients (30%) had abnormal DREs. In the positive PNB group, the mean age was older and PSAD was higher, but the means of the prostate volumes and total IPSS were lower (p<0.05). Multivariate analysis demonstrated that age and IPSS were independent predictors of a positive PNB (p<0.05). The odds ratio of mild IPSS for positive PNB controlled for age was 3.0 (95% CI 1.5-6.7). Receiver-operating characteristics analysis revealed a mild IPSS (AUC=0.640) and was a considerable predictor for positive PNB as well as PSAD (AUC=0.648). The sensitivity and specificity of IPSS with a cutoff value of 7.5 points were 31 and 87% for prediction of prostate cancer detection. CONCLUSION: In the low-intermediate PSA range, mild IPSS may be a predictive factor for positive PNB with a similar specificity of PSAD. 相似文献
27.
Pavcnik D Kaufman JA Uchida BT Case B Correa LO Goktay AY Hamada A Keller FS Rösch J 《Journal of vascular and interventional radiology : JVIR》2005,16(11):1511-1516
PURPOSE: To investigate two spatial orientations of a percutaneously placed bicuspid second-generation bioprosthetic venous valve (SG-BVV) in the jugular vein (JV). MATERIALS AND METHODS: Twelve SG-BVVs, consisting of small intestinal submucosa attached to a nitinol frame were placed across a natural valve (NV) in the distal JV in six sheep. Six SG-BVVs were oriented as NV leaflets (group A) and the other six SG-BVVs were rotated 90 degrees to NV leaflets (group B). SG-BVV function was studied by venography performed immediately after placement and at 5 weeks after placement. Animals were killed at 5 weeks, and gross examinations were performed. RESULTS: Desired valve orientation after deployment was seen in all SG-BVVs. In group A, all valves exhibited good valve function on immediate and 5-week venography. At gross examination, leaflets were attached mostly at the valve base and free cusp areas were similar in both cusps with a mean of 154.8 mm2 +/- 45.6 for one cusp and 142 mm2 +/- 53.4 for the other cusp (P = .188). In group B, all valves showed good function on immediate venography and in five valves prior to killing. Valve attachment to the vein wall in this group involved a longer segment of leaflets and their free areas were smaller with a wide variety of cusp sizes. Mean free leaflet areas of opposing cusps measured 106.3 mm2 +/- 36.5 and 66.1 mm2 +/- 34.6, respectively (P = .025). Difference in leaflet areas between group A and group B was significant (P = .019). CONCLUSION: Proper spatial orientation of the SG-BVV at deployment is important for valve function and should have the same orientation as the NV. 相似文献
28.
Nezih Sungur Afşin Uysal Uğur Koçer Yigit Ozer Tiftikcioglu Murat Gümüş Önder Karaaslan Dilek Ertoy Baydar 《European journal of plastic surgery》2005,28(2):105-108
A 31-year old woman presented with a mass on the posterolateral aspect of the lower third of the right leg. The mass had undergone fine needle aspiration biopsy previously at another center and was diagnosed as neurofibroma. The patient was evaluated to determine the existence of neurofibromatosis but no positive findings were obtained, thus the mass appeared to be a solitary, local neurofibroma. The mass was totally excised with the involved nerve fascicles. The histopathological evaluation showed foci of malignant transformation of the solitary neurofibroma. The patient was reoperated on, and the surrounding tissues were widely excised together with the tibial nerve; the defect was grafted with the sural nerve. Clear margins were achieved. No complications ocurred and the patient was satisfied. She survived and had neither recurrence nor metastasis during 2 years follow-up. This patient is presented as a case report of a malignant peripheral nerve sheath tumor, specifically the focal malignant degeneration of a solitary neurofibroma. 相似文献
29.
PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements 总被引:2,自引:0,他引:2
Poppe B De Paepe P Michaux L Dastugue N Bastard C Herens C Moreau E Cavazzini F Yigit N Van Limbergen H De Paepe A Praet M De Wolf-Peeters C Wlodarska I Speleman F 《Genes, chromosomes & cancer》2005,44(2):218-223
We present an extensive characterization of 10 B-cell lymphomas with a t(9;14)(p13;q32). The presence of the PAX5/IGH gene rearrangement was demonstrated by fluorescence in situ hybridization (FISH) using a validated probe set, whereas complex karyotypic changes were reassessed by multiplex-FISH (M-FISH). Pathologic and clinical review revealed the presence of this rearrangement in 4 histiocyte-rich, T-cell-rich B-cell lymphomas (HRTR-BCLs) and 2 posttransplantation diffuse large B-cell lymphomas (PTLD-DLBCLs). In contrast to initial observations describing this translocation in lymphoplasmacytic lymphoma (LPL) and LPL-derived large B-cell lymphoma, our data showed a wide morphologic and clinical spectrum associated with the PAX5/IGH rearrangement, pointing to an association between this aberration and a subset of de novo DLBCLs presenting with advanced disease and adverse prognosis. In addition, the recurrent incidence of this rearrangement in both HRTR-BCL (4 cases) and PTLD-DLBCL (2 cases) was previously unrecognized and is intriguing. 相似文献
30.
Stunning of the Left Atrium after Conversion of Atrial Fibrillation: Predictor for Maintenance of Sinus Rhythm? 总被引:1,自引:0,他引:1
Okçün B Yigit Z Arat A Baran T Küçükoglu MS 《Echocardiography (Mount Kisco, N.Y.)》2005,22(5):402-407
Recurrence of atrial fibrillation (AF) after cardioversion (CV) to sinus rhythm (SR) is determined by various clinical and echocardiographic parameters. The aim of this study was to determine the value of mitral inflow A-wave velocity, performed at 24 hours after CV in estimation of AF recurrence. The study group consisted of 187 consecutive patients with nonvalvular atrial fibrillation, who had been cardioverted to SR from 1998 to 2000. Transthoracic echocardiography was performed in all cases recruited for the study 24 hours after CV. Left atrial (LA) diameter, left ventricular ejection fraction, and mitral inflow A-wave velocity were measured. The patients were evaluated in five groups according to their recurrence time (<30 days, 31-90 days, 91-180 days, 181-365 days, and >365 days). Maintenance of SR was determined to have a negative linear correlation with age (r =-0.97, P = 0.006), LA diameter (r =-0.93, P = 0.02), and AF duration (r =-0.93, P = 0.02), while having a positive linear correlation with mitral inflow A-wave velocity (r = 0.96, P = 0.008). In the maintenance of sinus rhythm, age, LA diameter, and AF duration were not affected from the method of CV, while mitral inflow A-wave velocity was found to be affected with the method of CV. No relationship was determined between mitral inflow A-wave velocity and the maintenance of sinus rhythm in those performed electrical cardioversion, while frequency of recurrence was found to be higher in those with slow mitral inflow A-wave velocity who were performed pharmacological cardioversion (r = 0.89, P = 0.004). In conclusion, age, duration of AF, LA diameter, and the mitral inflow A-wave velocity can be used to predict the maintenance of SR after CV. 相似文献