Development of the extraocular muscles during the fetal period.

PURPOSE: The aim of this study was to investigate the morphometric development of the extraocular muscles in the fetal period and to create a modified Tillaux spiral. METHODS: We dissected 157 fetal eyes (82 right eyes, 75 left eyes) obtained from 79 fetuses (46 boys, 33 girls) between 13 and 40 weeks of gestation. The tendon widths of the extraocular muscles and the distances of the tendon attachment sites to the limbus were measured. Tillaux's modified spiral was created. RESULTS: In addition to the rectus muscles, we added tendon widths and tendon-limbus distances of the upper (SO) and lower (IO) obliques to the modified Tillaux spiral. When tendon widths were compared between genders, no statistically significant difference was observed. When tendon widths were compared between the sides, it was determined that SO was more in the left eye, whereas other extraocular muscles were more in the right eye. There was no statistically significant difference between genders when the distances of tendon attachment sites to the limbus were compared. There was no statistically significant difference in SO and IO values between the sides. There was a statistically significant difference in the rectus muscles and this difference was found to be higher in the right eye. CONCLUSION: We think that the findings obtained will contribute to disciplines such as fetopathology, obstetrics, ophthalmology and plastic surgery and to future studies on this subject.

Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19.

Coronavirus disease 2019 (COVID-19) is an infectious respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the mortality rate of the disease has been relatively under control as of 2022, more than 15 million confirmed COVID-19 cases have been detected in Turkey to date, causing more than 100,000 deaths. The clinical manifestation of the disease varies widely, ranging from asymptomatic to acute respiratory distress syndrome causing death. The immune response mechanisms have an important impact on the fine adjustment between healing and enhanced tissue damage. This study aims to investigate the relationship between the variants of the interleukin 1 receptor antagonist (IL1RN), interleukin 17A (IL17A), and interleukin 17F (IL17F) genes and COVID-19 severity. The study population comprised 202 confirmed COVID-19 cases divided into three groups according to severity. The IL1RN variable number of a tandem repeat (VNTR) polymorphism was genotyped by polymerase chain reaction (PCR), and IL17A rs2275913, IL17F rs763780 and rs2397084 polymorphisms were genotyped by the PCR-based restriction fragment length polymorphism method. Statistical analysis revealed a significant association between IL17A rs2275913 variant and COVID-19 severity. The AA genotype and the A allele of IL17A rs2275913 were found significant in the severe group. Additionally, we found a significant relationship between haplotype frequency distributions and severity of COVID-19 for the IL17F rs763780/rs2397084 (p = 0.044) and a combination of IL17F rs763780/rs2397084/ IL17A rs2275913 (p = 0.04). The CG and CGA haplotype frequencies were significantly higher in the severe group. IL17A rs2275913, IL17F rs763780 and rs2397084 variants appear to have important effects on the immune response in COVID-19. In conclusion, variants of IL17A rs2275913, IL17F rs763780 and rs2397084 may be the predictive markers for the clinical course and potential immunomodulatory treatment options in COVID-19, a disease that has placed a significant burden on our country.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.

Association between Psoriasis Disease and IFN-λ Gene Polymorphisms.

Psoriasis is one of the most common chronic immune-mediated skin diseases, having a strong genetic predisposition. Psoriasis is a T-cell-mediated disease with a mixed Th1/Th17 cytokines environment. IL-23/IL-17 axis hyperactivation is the primary pathogenesis. Psoriasis lesions have been known to exhibit high IFN-λ1 and IFN-stimulated genes (ISGs) expression, which appears to be driven by Th17 cells. However, the role and mechanism of IFN-λs in psoriasis disease remains unknown. The study aimed to investigate the relationship between IL-28B and IL-29 gene polymorphisms with psoriasis disease and clinical severity. We performed single-nucleotide polymorphisms (SNPs) of IL-28B rs12979860 (IL-28 C/T), rs8099917 (IL-28 T/G), and IL-29 rs30461 (IL-29 T/C) in 140 patients with psoriasis disease and 159 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The genotype and allele frequency distributions of the rs12979860 (IL-28 C/T) and rs30461 (IL-29 T/C) polymorphisms were similar in the patient and control groups and were not statistically significant. The TG genotype of rs8099917 was statistically significantly different in patients from both groups. The TG genotype increased the risk of disease1.9-fold. The G allele may be associated with the pathogenesis of psoriasis.

Polymorphisms of ACE (I/D) and ACE2 receptor gene (Rs2106809, Rs2285666) are not related to the clinical course of COVID-19: A case study.

Coronavirus disease 2019 (COVID-19) is an infectious disease, and the reason behind the currently ongoing pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Angiotensin-converting enzyme (ACE2) has been recognized as the specific receptor of the SARS-CoV-2 virus. Although the possible effect of ACE2 gene polymorphism remains unknown, human ACE2 receptor expression influences SARS-CoV-2 susceptibility and COVID-19 disease outcome. In this study, we aimed to investigate the relationship between ACE gene I/D polymorphism, ACE2 receptor gene polymorphism, and COVID-19 severity. ACE gene insertion/deletion (I/D) polymorphism and ACE2 receptor gene rs2106809 and rs2285666 polymorphisms were determined using polymerase chain reaction (PCR) and PCR-based restriction fragment length polymorphism methods, respectively, in 155 COVID-19 patients who were divided into three groups (mild, moderate, and severe) according to clinical symptoms. However, the distribution of genotype and allele frequencies of ACE gene I/D, ACE2 receptor gene rs2106809, and rs2285666 polymorphisms were not statistically significant in all groups. In conclusion, in the study population, ACE gene I/D, ACE2 receptor gene rs2106809, and rs2285666 polymorphisms were not associated with the severity of COVID-19 infection. Although ACE2 receptor gene expression may affect the susceptibility to COVID-19, there is no existing evidence that the ACE or ACE2 gene polymorphisms are directly associated with COVID-19 severity. Interindividual differences in COVID-19 severity might be related to epigenetic mechanisms of ACE2 receptor gene expression or variations in other genes suggested to play a critical role in COVID-19 pathogenesis such as pro-inflammatory cytokines and coagulation indicators.

Association between IL-18 gene polymorphisms and Hashimoto thyroiditis.

BACKGROUND: Hashimoto's thyroiditis (HT), which is also called lymphocytic thyroiditis, is the most frequent autoimmune thyroid disease (AITD), in which T helper-1 lymphocytes mediate the disease. IL-18 is expressed in thyroid follicular cells (TFCs) during HT. The findings of studies aimed at investigating the relationship between IL-18 and HT are highly contradictory. In this study, we aimed to investigate the association between IL-18 gene polymorphisms and HT. METHODS AND RESULTS: The study included 97 patients diagnosed with HT and 86 volunteers in the healthy control group. The IL18-607C/A (rs1946518) and -137G/C (rs187238) genotypes were determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. No significant difference in the mean age or sex was observed between the groups (p = 0.763 and p = 0.658, respectively). The -137 IL18 CG genotype was more frequent in HT patients than in controls. In HT patients, the risk of the IL-18 CG genotype was more than 2.237 times higher (OR 2.237%95 Cl 1.195-4.187, p = 0.039) than that of the G/G genotype. Additionally, the -607 AC genotype was more frequent in the control group than in the HT group (in individuals with the IL18 CG genotype). CONCLUSIONS: According to our results, the CG genotype might be a risk factor for HT. Conversely, there is a possibility that the AC genotype plays a protective role against the condition. However, further studies will contribute to new solutions by revealing the molecular and cellular mechanisms of HT.

A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.

Severe acute respiratory syndrome coronavirus 2 infection produces a wide spectrum of manifestations, ranging from no symptom to viral pneumonia. This study aimed to determine the genetic variations in cytokines and their receptors in relation to COVID-19 pathogenesis using bioinformatic tools. Single nucleotide polymorphisms (SNPs) of genes encoding the cytokines and cytokine receptors elevated in patients with COVID-19 were determined from the National Biotechnology Information Center website (using the dbSNP database). Missense variants were found in 3 cytokine genes and 10 cytokine receptor genes. Computational analyses were conducted to detect the effects of these missense SNPs via cloud-based software tools. Also, the miRSNP database was used to explore whether SNPs in the 3'-UTR altered the miRNA binding efficiency for genes of cytokines and their receptors. Our in silico studies revealed that one SNP in the vascular endothelial growth factor receptor 2 (VEGFR2) gene was predicted as deleterious using sorting intolerant from tolerant. Also, the stability of VEGFR2 decreased in the I-Mutant2.0 (biotool for predicting stability changes upon mutation from the protein sequence or structure) prediction. It was suggested that the decrease in VEGFR2 function (due to the rs1870377 polymorphism) may be correlated with the progression of COVID-19 or contribute to the pathogenesis. Moreover, 27 SNPs were determined to affect miRNA binding for the genes of cytokine receptors. CXCR2 rs1126579, TNFRSF1B rs1061624 and IL10RB rs8178562 SNPs were predicted to break the miRNA-mRNA binding sites for miR-516a-3, miR-720 and miR-328, respectively. These miRNAs play an important role in immune regulation and lung damage repair. Further studies are needed to evaluate the importance of these miRNAs and the SNPs.

Anatomical variations of the extensor tendons of the fetal thumb.

PURPOSE: The extensor pollicis longus (EPL) and brevis (EPB) and abductor pollicis longus (APL) are muscles located in the posterior compartment of the forearm. These muscles allow the thumb to move independently from the other four fingers by attaching to the thumb separately. This study's goal was to investigate the tendon variations and insertions of these muscles. METHODS: Our study was conducted on 43 fetal cadavers (86 upper extremities) aged between 17 and 40 weeks of gestation. This study investigated the tendon numbers and insertions of the EPL, EPB, and APL. RESULTS: The tendon numbers of the EPL and EPB were observed to range between 1 and 2, and the tendon numbers of the APL ranged between 1 and 5. The EPL was found to insert into the distal phalanx via the dorsal aponeurosis in all extremities. It was observed that the EPB tendons inserted into the proximal phalanx, distal phalanx, and dorsal aponeurosis. It was determined that the APL tendons inserted into the basis of the first metacarpal, abductor pollicis brevis, opponens pollicis, and trapezium bone. CONCLUSION: Knowing the tendon variations and insertions of the EPL, EPB, and APL muscles during the fetal period will be useful in planning treatments to correct the congenital thumb anomalies and the loss of function after injury.

Morphometric Development of the Mandible in Fetal Cadavers.

PURPOSE: The aim of this study is to present reliable data by measuring the morphometric properties of the mandible in the fetal period. METHODS: A study was performed on mandibles of 35 fetuses (18 male fetuses and 17 female fetuses), aged between 21 and 40 weeks of gestation. Fetuses were examined in 3 groups according to their developmental stages: 2nd trimester, 3rd trimester, and full-term. Morphometric measurements were performed for both the right and left sides of each mandible. The measurements of the mental foramen were performed using a digital caliper, and other measurements were performed using the ImageJ program. The data obtained were analyzed using the SPSS 20 for Windows program. RESULTS: There was no significant gender difference for all parameters. When the parameters were compared by the trimesters, no significant difference was determined in the 2nd trimester - 3rd trimester, 3rd trimester-full-term, and second trimester - full-term comparisons of the angle of the mandible, and there was a significant difference in all other parameters (P < 0.05). According to the trimesters, all parameters, except the angle of the mandible, increased naturally with the development of the mandible. It was observed that the angle of the mandible decreased from the 2nd trimester to the 3rd trimester and increased from the 3rd trimester to the full term. When the right and left measurements were compared, no significant difference was found for all parameters in both general and trimester groups. CONCLUSION: The present study includes fetal mandibular parameters that have not been reported elsewhere. It is thought that the obtained data will contribute to the determination of anomalies, pathologies, and variations.

Morphometric development of the tongue in fetal cadavers.

PURPOSE: The tongue is a specific organ for the sense of taste. It consists of the striated muscle and mucous membrane. Furthermore, it helps the functions of speech, chewing, and swallowing. In this study, we aimed to reveal some morphometric properties of the tongue in fetal cadavers. METHODS: The study was conducted on a total of 45 fetal tongues (25 male tongues, 20 female tongues) aged between 17 and 40 weeks. The fetuses were divided into three groups as trimester II, trimester III, and full term. For each tongue, the length, width, area, free tongue length, and the terminal sulcus angle were measured using Image J program. The free tongue length/tongue length ratio was examined. RESULTS: The obtained data were compared according to the trimester groups and genders. It was determined that the tongue length, width, area, and free tongue length increased during the trimesters and that there was no significant difference in the terminal sulcus angle and the free tongue length/tongue length ratio between the trimesters. No significant difference was found in all parameters between the genders. CONCLUSIONS: This study presented significant data on morphometric development of the tongue. These data are thought to be useful for determining the anomaly and variations of the tongue.

Morphometric examination of the styloid process by 3D-CT in patients with Eagle syndrome.

PURPOSE: This study aimed to obtain the length, medial-anterior angulation and basis-apex coordinates of the styloid process in patients with Eagle syndrome by three-dimensional computed tomography. METHODS: This study was performed on three-dimensional computed tomography images obtained from the hospital picture archiving and communication system (by obtaining 3D images by a RadiAnt DICOM viewer 4.6.9 version). In this study, the anterior and lateral lengths of the styloid process, its anterior and medial angulation, and the coordinate values on the x, y, and z-axes of 24 patients (14 males, 10 females) diagnosed with Eagle syndrome were examined. RESULTS: The mean anterior lengths were found to be 41.45 mm on the right and 36.07 mm on the left sides, while the mean lateral lengths were found to be 42.15 mm on the right and 37.59 mm on the left sides. The mean medial angulation was measured to be 62.91° on the right and 63.42° on the left, while mean anterior angulation was measured to be 28.01° on the right and 30.43° on the left. The styloid process basis coordinates were determined as (right: x = - 41.30, y = 0, z = 0, left: x = 40.79, y = 0, z = 0), and apex coordinates were determined as (right: x = - 22.61, y = - 36.86, z = - 19.52, left: x = 24.90, y = - 32.14, z = - 18.65). CONCLUSION: Knowing the styloid process basis and apex coordinates in addition to knowing the its length and angulation will be useful in diagnosing Eagle syndrome. We think that these results in relation to the coordinates of the styloid process will bring a new perspective to clinicians who investigate the length and angulation of the styloid process.

Development of Hard and Soft Palate During the Fetal Period and Hard Palate Asymmetry.

In the present study, it was aimed to perform the morphometric analysis of the hard and soft palate in fetal cadavers and evaluate hard palate asymmetry during the fetal development. The development of the palate was investigated in 40 (21 males, 19 females) fetal materials aged between the 17th and 40th gestational week. In this study, distances between the incisive papilla-staurion (Ip-Sr), staurion-posterior nasal spine (Sr-Pns), incisive papilla-greater palatine foramen (Ip-Gpf) on the right and left sides, Sr-Gpf, and Pns-Gpf were measured. In cases with asymmetry, the ratio of asymmetry was determined in percentage using the asymmetry index. Moreover, angular values between Ip-Sr-Gpf and Ip-Pns-Gpf on the right and left sides were measured, and the right and left side values were compared with each other. The hard and soft palate lengths were measured on the planum medianum. Upon comparing the measured parameters between males and females, the mean values of male fetuses were higher in all parameters, but a significant difference was found only in the Sr-Pns distance among these parameters. Upon comparing the angular data and asymmetry index data on the hard palate between the trimester groups, a significant difference was found only in the Ip-Sr-Gpf (left) parameter. The mean ratio of the hard palate to the soft palate was found as 1.90. It is believed that the obtained data will contribute to studies to be conducted in fields such as plastic surgery, maxillofacial surgery, intrauterine surgery, fetopathology, embryology, anatomy, and obstetrics.

Appearance of external genital organs and types of hymen in Turkish female foetal cadavers.

The present study's purpose was to determine the size and morphometric development of the female external genital organs on foetal cadavers. Dimensions of labia majora, labia minora and clitoris, bilabial diameter, vertical and horizontal diameters of hymenal opening, distance between the external urethral orifice and hymenal opening, distance between the clitoris and external urethral orifice and anogenital distance were measured. The hymenal types were determined. Mean values of parameters according to gestational weeks, months and trimesters were calculated. Imperforate hymen were determined in the first trimester. Twenty-eight foetuses with annular hymen, 25 foetuses with imperforate hymen, and 1 foetus with septated hymen were determined in the second trimester. Twenty-four foetuses with annular hymen, 3 foetuses with imperforate hymen, 1 foetus with fimbriated hymen, and 1 foetus with hymenal tag were determined in the third trimester. All foetuses in the full term were determined with annular hymen.

Interleukin 18 gene polymorphism is a risk factor for multiple sclerosis.

Proinflammatory cytokines with immunosuppressive properties play an important role in the pathogenesis of multiple sclerosis (MS). Interleukin 18 (IL-18) is one of the most important innate cytokines produced from macrophages in the early stages of the inflammatory immune response. The purpose of this study was to determine whether there was any relationship between IL18 gene polymorphisms and MS. IL18 genotyping were performed in 101 MS patients and 164 control subjects by using the PCR-restriction fragment length polymorphism (PCR-RFLP) method. The frequency of MS patients with the CC genotype of the IL18 gene at position -137 was significantly higher than with the GG genotype [p = 0.01, odds ratio (OR) 3.17]. In haplotype analysis of two SNPs in the IL18 gene, frequency of the CC haplotype was significantly higher in MS patients (p = 0.002, OR 3.0). However, the genotype distribution of the IL18 -607 C/A polymorphism in the MS patient group was not significantly different from that of the control group. These data suggest that IL18 gene polymorphisms at position -137 might be a genetic risk factor for MS in the Turkish population.

Password authenticated key exchange-based on Kyber for mobile devices.

In this article, a password-authenticated key exchange (PAKE) version of the National Institute of Standards and Technology (NIST) post-quantum cryptography (PQC) public-key encryption and key-establishment standard is constructed. We mainly focused on how the PAKE version of PQC standard Kyber with mobile compatibility can be obtained by using simple structured password components. In the design process, the conventional password-based authenticated key exchange (PAK) approach is updated under the module learning with errors (MLWE) assumptions to add password-based authentication. Thanks to the following PAK model, the proposed Kyber.PAKE provides explicit authentication and perfect forward secrecy (PFS). The resistance analysis against the password dictionary attack of Kyber.PAKE is examined by using random oracle model (ROM) assumptions. In the security analysis, the cumulative distribution function (CDF) Zipf (CDF-Zipf) model is also followed to provide realistic security examinations. According to the implementation results, Kyber.PAKE presents better run-time than lattice-based PAKE schemes with similar features, even if it contains complex key encapsulation mechanism (KEM) components. The comparison results show that the proposed PAKE scheme will come to the fore for the future security of mobile environments and other areas.

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

AIM: Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy. CASE: We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing. CONCLUSION: It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.

Treatment of acute scrotum in children: 5 years' experience.

BACKGROUND: A retrospective review was carried out to determine the incidence of various causes and outcome of management in patients with acute scrotum. METHODS: Fifty children had a diagnosis of acute scrotum between 1st January 2007 and 15th May 2012. Age, mode of presentation, associated anomalies, and results of treatment were studied. Diagnosis of acute scrotum was confirmed by physical examination, Doppler ultrasound and biochemical investigations. RESULTS: Clinical presentation consisted of sudden swelling and pain in the inguinoscrotal region. The average age was 7.5 years (2 months-14 years). Causes of acute scrotum were orchitis/epididymo-orchitis (O /EO) in 22, strangulated inguinal hernia (SIH) in 16, testicular torsion (TT) in 11, and torsion of testicular appendage (TTA) in 1. Associated urological anomalies were found in 5 patients with O /EO. Medical treatment was applied to patients with O /EO, and surgical treatment was performed in patients with SIH, TT and TTA. CONCLUSION: In this series, O /EO was found to rank first as the cause of acute scrotum. Immediate surgical treatment in acute scrotum patients, except those with O /EO, is necessary. Associated urological anomalies should be investigated in patients with O /EO.

Overview of the subgenus Ventocoris s. str. (Hemiptera: Heteroptera: Pentatomidae) with new records and a revised key to the Ventocoris species of Turkey.

This paper presents an overview of the nominotypical subgenus of the genus Ventocoris Hahn, 1834 (Hemiptera: Heteroptera: Pentatomidae: Podopinae); the two species are identified, redescribed, illustrated, and keyed. Species of the sub-genus Astirocoris Jakovlev, 1894 known in Turkey are redescribed, a key is provided for the Turkish species of Ventocoris. Ventocoris trigonus (Krynicki, 1871), Ventocoris nigellae (Fabricius, 1787) and V. advena (Horváth, 1896), syn. nov., are synonymized with V. rusticus (Fabricius, 1781). The first records of V. falcatus (Cyrillus, 1791) from Malta and V. oblongus Horváth, 1889) from Turkey are given.