Objective The aim of this study was to determine the prevalence, demographic data of elastofibroma dorsi (ED) in adult population who had undergone chest CT examination and to discuss clinical, and radiological presentations, and treatment options of ED. Methods We retrospectively reviewed 4074 chest CT examinations for ED from July 2014 to April 2015. Lesion size, side, and patient demographics were analyzed for positive cases of ED. The initial radiology reports of patients with ED were also reviewed. Results Of the 4074 patients, 111 patients (2.73%) (77 women and 34 men; mean age: 68.2 years; range: 35–91 years) had a total of 168 ED. The females had a 1.96 -fold higher prevalence of ED than the males (OR, 1.96; 95% CI, 1.481–2.59). The mean lesion thickness was found to be significantly greater in the female patients compared with the male patients (p = 0.001). The prevalence of the disease was estimated to be 4.98 times higher in patients aged 65 years or older (CI 95%, 3.25–7.36). In 111 ED patients, the lesions were only noted in 9 patients' initial radiology report. Conclusion Here, we present a prevalence study with the largest population in the literature concerning ED. Our study shows that ED is not as uncommon as previously thought and should be especially suspected in females and older age groups. Level of Evidence Level IV, Diagnostic Study.
Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets and the brain. The term "Wolfram syndrome spectrum" is often used because of its genetic and clinical heterogeneity. Disorders associated with the WFS1 gene include Wolfram syndrome following an autosomal recessive inheritance pattern and Wolfram-like syndrome following an autosomal dominant inheritance pattern, and congenital cataract. Here, we report a case with Wolfram-like syndrome presented with bilateral congenital cataract, optic atrophy, nystagmus, ataxia, mild intellectual disability, epilepsy and leukodystrophy. Case report Magnetic resonance imaging (MRI) showed bilateral cerebral T2 and flair hyperintensities that causes diffusion restriction in some areas with hypoperfusion. Bilateral T2 cerebellar central white matter hyperintensities and atrophy of brain stem were revealed by the brain MRI. There was also found evidence of a proximal cervical cord lesion and syrinx cavity in the vertebral MRI. The heterozygous frame-shift (c.1230_1233delCTCT; p.Val412Serfs) mutation in the WFS1 gene. This heterozygous pathogenic variant in the WFS1 gene was identified in both the father and grandmother. Conclusions To our knowledge, this is a novel Wolfram-like syndrome-related phenotype. This case report broadens the currently known phenotypic presentations of Wolfram-like syndrome and suggests that the p.Val412Serfs variant in the WFS1 gene may be associated with syrinx cavity and leukodystrophy.
Kronik venöz yetmezlik (KVY) kronik bir enflamatuar hastalıktır ve yayınlanan çalışmalarda bazı biyobelirteçlerin KVY hastaları için prediktif değeri olduğu gösterilmiştir. Eritrosit dağılım genişliği (RDW), dolaşımdaki eritrositlerin heterojenliğinin bir ölçüsüdür. Biz bu çalışma ile RDW ve KVY sınıflandırması arasındaki ilişkiyi araştırmayı amaçladık. Gereç ve Yöntemler: Bu çalışmada alt ekstremite venöz Doppler ultrasonu çekilmiş 102 hasta değerlendirildi. Doppler ultrason sonuçları, hematolojik ve biyokimyasal laboratuvar sonuçları retrospektif olarak hastane tıbbi kayıtlarından elde edildi. Çalışma popülasyonu Doppler ultrason sonuçlarına göre kronik venöz yetmezlik grubu ve kontrol grubuna ayrıldı. Kronik venöz yetmezlik grubu CEAP sınıflandırmasının klinik bulgularına göre sınıflandırıldı. Bulgular: Toplam 102 hasta çalışmaya dahil edildi. Çalışma popülasyonunun ortalama yaşı 52.3±14.6 ve 54'ü (%52,9) erkekti. Hastaların%25,5'i CVI grubuna, %74,5'i kontrol grubuna alındı. Çalışma popülasyonunun CEAP sınıflandırmasının klinik bulgularına göre %21,6'sı (n=26) Sınıf 1, %44,1'i (n=45) Sınıf 2 ve %8,8'i (n=9) Sınıf 3 olarak sınıflandırıldı. RDW, venöz yetmezlik grubunda kontrol grubuna göre anlamlı derecede yüksekti (p = 0.02). İkili karşılaştırmada; Sınıf 1 ile Sınıf 2 arasında p= 0,150; Sınıf 1 ile Sınıf 3 arasında p = 0,125 ve Sınıf 2 ile Sınıf 3 arasında p= 0,05 saptandı. Sonuç: Sonuçlarımız RDW'nin CVI için bir tanı aracı olarak kullanılabileceğini, ancak CVI'nın şiddetinin RDW tarafından belirlenemeyeceğini göstermektedir.
Background Thymus has a pivotal role in combating infectious diseases. Although some reviews have been published about its critical role in COVID-19, there is not enough research. In this study, the size and density of thymus related to computed tomography pulmonary severity score (CT-SS) were researched. Results A total of 196 patients were analyzed with a mean age of 52.54 ± 18.78 years; 97 (49.5%) of them were RT-PCR (−) and 99 (50.5%) were RT-PCR (+). Within RT-PCR (+) group 62 (62.6%) of them had pneumonia with a mean CT-SS of 9.37 ± 8.83; within RT-PCR (−) group 20 (20.6%) of them had pneumonia with the mean CT-SS of 12.00 ± 10.18. CT-SS had moderate negative correlation with thymus volume and thymus maximum diameter in patients having nodular-type thymus (R = −0.591, P = 0.02; R = −0.515, P = 0.049, respectively). Homogenous fat infiltration was more commonly seen in RT-PCR (−) group while reticular and nodular types were commonly seen in RT-PCR (+) group (p = 0.015). The mean volume and maximum diameter of thymus were statistically significantly higher in RT-PCR (+) group (p = 0.027 and p = 0.048, respectively). Conclusion This study showed the higher thymic volume and maximum diameter and more involution in COVID-19 patients. CT-SS had a moderate negative correlation with thymus volume and thymus maximum diameter. Pneumonia was more frequent in COVID patients, but mean CT-SS of the non-COVID cases was higher.
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