Evaluation of the Association between Paranasal Sinus Osteomas and Anatomic Variations Using Computed Tomography

Objective:The pathogenesis of paranasal sinus osteoma (PSO) has not been fully elucidated. It is thought that both embryological and developmental factors play a role in the etiology. The aim of the present study was to investigate the association of frequency and localization of PSOs detected on computed tomography (CT) examination with osteoma presence.Methods:In this retrospective study conducted in December 2017 through March 2020 in Gaziosmanpaşa University Faculty of Medicine, images of a total of 18,867 patients who underwent paranasal sinus, maxillofacial CT and brain CT angiography were reviewed for the presence of PSOs. Sizes of PSOs and accompanying mucosal pathologies were identified. Associations between PSOs and paranasal sinus variations were evaluated statistically compared to the control group (200 patients without PSO).Results:A total of 176 patients (0.92%) were found to have PSO. Average age of the patients with PSO was 59.9 years (range: 18–93). PSOs were unilateral in 152 patients while 24 patients had multiple osteomas. Female/male ratio was 1.1/1. PSOs were most commonly located in the frontal sinuses. Frequencies of vertical concha bullosa, secondary middle turbinate, twisted uncinate, supraorbital ethmoid cell, intersinus septal cell, ethmoidomaxillary cell, Haller’s cell, frontal sinus hypoplasia and sphenoid sinus hypoplasia were significantly higher in the patient group compared to the control group.Conclusion:Higher or lower incidence rates of some anatomic variations in the patients with PSO could be explained by the possible effects of genetic and/or environmental factor. Additional studies are needed to evaluate these possible associations

MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome

PURPOSEThe aim of this study was to establish the role of magnetic resonance imaging (MRI) in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS). MATERIALS AND METHODSSixteen female MRKHS patients (mean age, 19.4 years; range, 11–39 years) were studied using MRI. Two experienced radiologists evaluated all the images in consensus to assess the presence or absence of the ovaries, uterus, and vagina. Additional urogenital or vertebral pathologies were also noted. RESULTSOf the 16 patients, complete aplasia of uterus was seen in five patients (31.3%). Uterine hypoplasia or remnant uterus was detected in 11 patients (68.8%). Ovaries were clearly seen in 10 patients (62.5%), and in two of the 10 patients, no descent of ovaries was detected. In five patients, ovaries could not be detected on MRI. In one patient, agenesis of right ovary was seen, and the left ovary was in normal shape. Of the 16 cases, 11 (68.8%) had no other extragenital abnormalities. Additional abnormalities were detected in six patients (37.5%). Two of the six had renal agenesis, and one patient had horseshoe kidney; renal ectopy was detected in two patients, and one patient had urachal remnant. Vertebral abnormalities were detected in two patients; one had L5 posterior fusion defect, bilateral hemisacralization, and rotoscoliosis, and the other had coccygeal vertebral fusion. CONCLUSIONMRI is a useful and noninvasive imaging method in the diagnosis and evaluation of patients with MRKHS

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromosome mosaicism of 45,X/47,XYY. It should be kept in mind that the rare type of sex chromosome mosaicism of 45,X/47,XYY may present with genital phenotypes ranging from normal female to male characteristics

Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

SummaryNeurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified a founder mutation in four independent pedigrees in cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is a multifunctional kinase implicated in tRNA, mRNA, and siRNA maturation. Kinase activity of the CLP1 mutant protein was defective, and the tRNA endonuclease complex (TSEN) was destabilized, resulting in impaired pre-tRNA cleavage. Germline clp1 null zebrafish showed cerebellar neurodegeneration that was rescued by wild-type, but not mutant, human CLP1 expression. Patient-derived induced neurons displayed both depletion of mature tRNAs and accumulation of unspliced pre-tRNAs. Transfection of partially processed tRNA fragments into patient cells exacerbated an oxidative stress-induced reduction in cell survival. Our data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans

Effects of acetic acid on the viability of Ascaris lumbricoides eggs. Is vinegar reliable enough to clean the vegetables?

Objectives: To investigate the effects of acetic acid on durable Ascaris lumbricoides (A. lumbricoides) eggs to determine the effective concentration of vinegar and the implementation period to render the consumption of raw vegetables more reliable. Methods: This experimental study was performed in May 2015 in the Parasitology Laboratory, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey. The A. lumbricoides eggs were divided into 2 groups. Eggs in the study group were treated with 1, 3, 5, and 10% acetic acid concentrations, and eggs in the control group were treated with Eosin. The eggs’ viability was observed at the following points in time during the experiment: 0, 10, 15, 20, 30, 45, and 60 minutes. Results: The 1% acetic acid was determined insufficient on the viability of Ascaris eggs. At the 30th minute, 3% acetic acid demonstrated 95% effectiveness, and at 5% concentration, all eggs lost their viability. Treatment of acetic acid at the ratio of 4.8% in 30 minutes, or a ratio of 4.3% in 60 minutes is required for full success of tretment. Conclusion: Since Ascaris eggs have 3 layers and are very resistant, the acetic acid concentration, which can be effective on these eggs are thought to be effective also on many other parasitic agents. In order to attain an active protection, after washing the vegetables, direct treatment with a vinegar containing 5% acetic acid for 30 minutes is essential

Doğal tropon türevleri için yeni sentetik yöntemlerin geliştirilmesi

TÜBİTAK TBAG Proje01.10.2000Nonbenzonoid bileşikler arasında en çok ilgi duyulan moleküller; yedi üyeli konjüge karbosiklik türevleri olan tropon, ve tropolon'dur. Tropon türevleri için literatürde yayınlanmış bir çok yöntem varsa da, bunların içerisinde regiospesifik yöntem azdır. Singlet oksjenin sikloheptatrien türevlerine katılması ile elde edilen endoperoksitlerin çeşitli kimyasal transformasyonları sonucu tropon ve tropolon için yeni bir yöntem geliştirildi ve bu yöntem üç ayrı çıkış maddesine uygulandı. Çalışmanın sonucunda bir dizi yeni ve doğal tropon ve tropolon türevleri sentezlendi

Performance Evaluation of Sysmex CN-3000 and Stago STA R Max Coagulation Analyzers and Interference of Hemolysis

Background: In this study, our purpose was to evaluate the analytical performances of the STA R Max and CN-3000, and compare the results of both for PT, aPTT, fibrinogen, D-dimer, and factor VIII, and also to show the influence of hemolysis on PT, aPTT, and fibrinogen assays. Methods: Three hundred ninety-five randomly-selected blood samples from residual material from Istanbul Fac-ulty of Medicine, Central Laboratory workflow comprised the study group. PT, aPTT, fibrinogen, D-dimer, and factor VIII activity were done using both analyzers. Analytical performances were determined through precision, linearity, and comparability studies. Artificial hemolysis was performed through freezing-thawing and mechani-cal-sheer methods. Results: Intra-assay and between-day CVs% of PT and aPTT were lower than 5% for STA R Max and CN-3000. Only the within-run and between-day CVs% of fibrinogen and the between-day CVs% of D-dimer were higher than 5%, but in acceptable targets. Intra-assay and between-day CVs% of FVIII on the CN-3000 were 3.5% and 12.3% at the low and 2.5% and 5.3% at high level, and 1.8% and 3.7% at the low and 6.3% and 5.9% at high level on the STA R Max. The comparison results of PT, aPTT, fibrinogen, and D-dimer were good (r > 0.91), also good correlations were obtained for FVIII activity > 40 IU/dL and FVIII between 5 -40 IU/dL (r = 0.89). The results of the hemolysis study were within acceptable limits of the recommended criteria of Fraser and the manu-facturer. Conclusions: CN-3000 and STA R Max coagulation analyzers are accurate and highly precise systems for safe use in clinical diagnostic applications. The interferences obtained for both analyzers were found to be within accepted targets. (Clin. Lab. 2022;68:xx-xx. DOI: 10.7754/Clin.Lab.2021.210501