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.

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.

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.

Management of Foreign Bodies Crossing the Gastroesophageal Junction in Children.

OBJECTIVE: Foreign body (FB) ingestion is a common problem in children and is an important public health problem in terms of causing serious complications. This study aims to evaluate the complication management and intervention rates of FBs crossing the gastroesophageal junction. MATERIALS AND METHODS: The hospital records of all children who presented to our clinic because of ingestion of FB between August 2019 and August 2021 were retrospectively reviewed. Patients who had an FB crossing the esophagogastric junction on plain radiographs showing the entire gastrointestinal tract taken at the time of admission were included in this study. Patients who had an FB removed from the esophagus by endoscopy were excluded from this study. RESULTS: Of the 127 patients included in this study, 66 (52%) were male and 61 (48%) were female, with a mean age of 4.94 ± 3.15 years (3 months-17 years), and 59% (n = 75) of the patients were under 5 years of age. The most common type of FB was a coin (47%). The first pediatric cases in the literature were a clothespin discovered in the stomach and a Meckel's diverticulum perforated by a sunflower seed shell. Management included spontaneous passing (89%), endoscopy (7%), and open surgery (4%). CONCLUSION: Although FBs passing through the esophagogastric junction may be asymptomatic in most cases, the need for close monitoring and surgical intervention should be kept in mind in these patients.

Anatomical Variations of the Musculocutaneous Nerve in the Human Fetus.

OBJECTIVES: Knowing the motor branches and variations of the musculocutaneous nerve to the muscles along its course will facilitate the treatment of flexor spasticity and supracondylar fractures of the humerus in order to minimize nerve lesion. In fetal cadavers, the purpose of our study was to determine the number and course of the formation variations and motor branches of the musculocutaneous nerve. The significance of studying fetal nerve variations is due to injury to the brachial plexus roots during birth. METHODS: Our study was conducted using the anatomical dissection technique on 102 upper limbs from 51 fetuses ages ranged from 17 to 40 weeks. Throughout its course, the variations and motor branches of the musculocutaneous nerve were analyzed. RESULTS: In 13.7% of cases, the musculocutaneous nerve did not pierce the coracobrachialis. The musculocutaneous nerve gave the muscles 1-3 motor branches. Additionally, motor branches terminated with 1-7 fringes. The biceps brachii motor branches of the musculocutaneous nerve were typed. Accordingly, 15.6% were type 1A, 3.9% were type 1B, 35.4% were type 1C, and 19.6% were type 1D. It was determined that 23.5% of the extremities were type 2 and that 1.9% were type 3. The distance between the musculocutaneous nerve's motor branches and the acromion was proportional to the arm's length. There were no statistically significant differences between the sides and genders for any measurement. CONCLUSIONS: Our study's findings will aid in the diagnosis and treatment of pediatrics, orthopedics, surgical sciences, and radiology conditions. It reduces the risk of iatrogenic injury and postoperative complications. We also believe that our research will serve as a resource for anatomists and other scientists.

The 3'UTR region of the DNA repair gene PARP-1 May increase the severity of COVID-19 by altering the binding of antiviral miRNAs.

COVID-19 may cause the release of systemic inflammatory cytokines resulting in severe inflammation. PARP-1 has been identified as a nuclear enzyme that is activated by DNA strand breaks. It has been suggested that PARP-1 has a role in the cytokine storm shown as a cause of mortality in COVID-19, and its inhibition may adversely affect the replication of SARS -CoV-2. We aimed to investigate the relationship between PARP-1 gene polymorphisms and the clinical severity of COVID-19. rs8679 TT genotype was found to increase with the COVID-19 disease severity. The 3'UTR polymorphism rs8679 may cause PARP-1 activity as a result of viral replication increase by changing the binding site of antiviral or anti-inflammatory miRNAs. PARP-1 may affect the severity of COVID-19 by cytokine release and maybe a possible treatment target.

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.

Colour and pigment in raw ground meat incorporated crushed garlic during the refrigerated storage: Their relationship to lipolytic and volatilomic changes.

The effects of freshly crushed garlic incorporated in raw ground meat at different rates 0 % to 2 % on colour, pigment forms, TBARS, peroxide, free fatty acids and volatilomic were investigated during 96 h storage at 4 °C. With advancing storage time and increasing garlic rate from 0 % to 2 %, the redness (a*), colour stability, oxymyoglobin and deoxymyoglobin decreased, but metmyoglobin, TBARS, peroxide, free fatty acids (C6, C15-C17), and aldehydes and alcohols, especially hexanal, hexanol, benzaldehyde, increased. Principal component analysis based on pigment, colour, lipolytic and volatilomic changes classified successfully the meat samples. Metmyoglobin was positively correlated with lipid oxidation products (TBARS, hexanal), but the other pigment forms and colour parameters (a* and b* values) were negatively correlated. Increased metmyoglobin proportion and decreased redness and colour stability may be used as reliable indicators of lipid oxidation. Also, the incorporation of fresh garlic into ground meat was not promising to increase oxidative stability.

Has the frequency of complicated appendicitis changed in children in the first year of the COVID-19 pandemic?

Background: The COVID-19 pandemic period suggests that the rate of complications may have increased in patients requiring surgical treatment due to the fact that they could not come to the hospital at the onset of the symptom. This study aims to evaluate the difference in the frequency of complicated appendicitis and postoperative complications in the COVID-19 pandemic.Patients included those who underwent appendectomy in 1 year before the COVID-19 pandemic and in the first year of the pandemic. The patients were categorized into two groups: pre-pandemic and pandemic periods. Clinical and histopathology results were compared between the pre-pandemic and pandemic periods. Results: A total of 407 patients were included in the study, 207 of whom were included during the pre-pandemic and 200 of whom during the pandemic period. The mean time to hospital admission after the onset of symptoms was 1.3 ± 0.9 days, pre-pandemic, and 1.4 ± 0.8 days during the pandemic group. In the pre-pandemic group, 0.4% intrabdominal abscess developed and 37.5% complicated appendicitis was detected. In the pandemic group, it was found that there were 1% abscess, 0.5% wound infection, 0.5% brid ileus, and 31.9% complicated appendicitis. The pre-pandemic group length of hospitalization was 2.4 ± 0.8 days, and the pandemic was 2.1 ± 0.9 days There was no difference between pre-pandemic and pandemic groups in terms of age, gender, white blood cell count, duration of symptoms, postoperative complications and frequency of complicated appendicitis, and duration of hospitalization. Conclusions: In the first year of the COVID-19 pandemic, we found that the rate of complicated appendicitis and postoperative complications were not different from pre-pandemic.

Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis.

Background: Subacute sclerosing panencephalitis is a progressive neurodegenerative disease that is a late complication of measles infection. However, to date, the pathogenesis of subacute sclerosing panencephalitis is still not explained; both viral and host factors seem to be associated. The present study aimed to investigate the relationship between NOD1 and NOD2 gene variants and subacute sclerosing panencephalitis. Methods: The gene variants of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) were explored in 64 subacute sclerosing panencephalitis patients and 70 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequencies of the AA genotype and A allele of rs2075820 (NOD1; c.796G>A) polymorphism were lower in patients compared with controls (P = .022 and .014, respectively). The presence of the A allele of rs2075820 may be considered as a protective factor for subacute sclerosing panencephalitis. There was a significant difference between the groups in rs2075818 (NOD1 G/C) polymorphism, and the CC genotype increased the risk of subacute sclerosing panencephalitis by 3.471-fold. The carriers of the C allele of rs2075818 (G/C) had a 1.855-fold susceptibility to subacute sclerosing panencephalitis (P = .018). The GC genotype might be associated with subacute sclerosing panencephalitis susceptibility in the patients compared with patients without having that haplotype (P = .03). Conclusions: Thus, we identified an association between subacute sclerosing panencephalitis and the rs2075820 (NOD1 G/A) and rs2075818 (NOD1 G/C) polymorphisms. These findings implicate a possible effect of this genetic polymorphism in susceptibility to subacute sclerosing panencephalitis, which needs to be confirmed in bigger populations.

Impact of COVID-19 on interest in pediatric neurosurgery related symptoms, diseases, and treatments.

BACKGROUND: More and more often, patients use online resources to increase their knowledge/confidence in conventional medicine. Thus, the evaluation of the internet search trends may offer an insight into patients' perception of the healthcare system during the pandemic, especially for medical specialties with invasive interventions such as pediatric neurosurgery. METHODS: A total of 140 keywords representing a wide range of pediatric neurosurgery related symptoms/signs, diseases, and treatments were defined. Google Trends tool was queried for the predefined keywords within the United States from January 01, 2016, to November 17, 2020. Two periods in 2020, March 15 to July 4 and July 5 to October 31, were compared with similar periods over the preceding four years (2016-2019). We performed analyses in three sections: symptoms/signs, diseases, and treatments. RESULTS: Public interest has shifted from regular pediatric neurosurgery related symptoms/signs, diseases, and treatments to the ones related with neurological aspects of COVID-19 both in initial and short-term stages of the pandemic. CONCLUSIONS: Google Trends highlights that the link between neurosurgeon/pediatric patients/caregivers needs to be further empowered by growing educational efforts.

Morphometric Development of Medial Surface of Cerebrum in Fetal Cadavers.

AIM: To investigate the morphometric and morphological development of the medial surface of the cerebrum in 40 fetal cadavers without external anomalies and pathologies between the gestational ages of 22 and 40 weeks. MATERIAL AND METHODS: In this study, we measured the height and width of the cerebral hemisphere, cingulate sulcus, marginal sulcus, sulcus of the corpus callosum, calcarine sulcus, parieto-occipital sulcus, and central sulcus in each hemisphere. We examined these measures between genders and sides and assessed how these parameters developed over the course of gestational age (measured in months).. Additionally, we aimed to determine the age at which each sulcus started to be visible. RESULTS: The dimensions of the parameters showed a significant increase with gestational age. When comparing these parameters between the right and left hemispheres as well as genders, no statistically significant difference was found. Regarding the classification of the marginal sulcus, Type I accounted for 33% and Type II accounted for 32% of the cases. As for the classification of the parieto-occipital sulcus and calcarine sulcus, Type I was the most common with 47%, followed by Type II with 23%. CONCLUSION: In our study, we believe that valuable parameters can be obtained to understand the morphometric development of sulcus structures in the medial surface of the cerebrum. The contribution of such studies to the knowledge of anatomy and neurosurgery will be significant. Knowledge of morphological differences in the cortex cerebri may also play a role in detecting certain neurological diseases (such as lissencephaly and Walker-Warburg syndrome) and explaining their neuropathology.

Innervation Patterns of the Psoas Major and Iliacus Muscles in Fetal Cadavers.

AIM: We aimed to investigate in detail the innervation patterns of the psoas major and iliacus in fetal cadavers. MATERIAL AND METHODS: The innervation patterns of 94 psoas major and 94 iliacus belonging to 47 fetuses (28 males, 19 females) aged between the 18th-40th gestational weeks in the laboratory of the Department of Anatomy at the Faculty of Medicine were examined. The nerve branches innervating the psoas major and iliacus and the origin levels of these branches were determined. The branches innervating the psoas major and iliacus were classified as L1, L1-L2 level, L2, L2-L3 level, L3, L3-L4 level, L4 and femoral nerve according to the levels at which they originate from the spinal nerves. RESULTS: It was determined that the psoas major was innervated by the ventral branches of the L1-L4 spinal nerves and the femoral nerve. It was observed that the iliacus was innervated only by the femoral nerve. The mean number of branches innervating each psoas major and iliacus was determined as 4.69±2.02 and 3.07±1.14 respectively. It was observed that the branches innervating the psoas major originated at least at the level between the L1-2 spinal nerves and most at the level between the L2-3 spinal nerves. CONCLUSION: The spinal nerves innervating the psoas major are at risk of injury during lateral transpsoas surgery, lateral discectomy, and spinal fusion surgery. Therefore, it may be useful for surgeons to know the innervation patterns of the psoas major in surgical interventions to be performed in this region. Furthermore, it will be useful for surgeons to know the innervation of the iliacus in various surgical interventions on the iliac fossa.

Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is one of the illnesses with high mortality and morbidity rates. The study aims to compare the Congenital Diaphragmatic Hernia Study Group (CDHSG) model and PCO2 in determining the mortality risk of CDH in the early postnatal period in neonates. The data of 35 patients who were treated CDH were analyzed retrospectively. The sex, gestational age, birth weight, delivery method, presence of chromosomal anomaly, congenital cardiac and other anomalies, pulmonary hypertension, the 5-min Apgar score, PCO2 values of blood gas in the first 24 h, mode of ventilation were recorded. According to the CDHSG model, the mortality risk of CDH was divided into three categories: as low, moderate, high risk. Based on the blood gases in the first 24 h after delivery, the CDH mortality risk was considered in two categories as low and high. Based on the CDHSG model, the risk of CDH mortality was low in 11.4%, moderate in 20%, and high in 68.6%. Mortality rates were 0%, 42.8%, and 83.3%, respectively. Based on the PaCO2 , the risk of CDH mortality was low in 37.1% of patients and high in 62.8%. The mortality rate was 86.3% in high-severity patients and 30.7% in low-risk patients. No significant difference was found between the area under the curve values of the CDHSG model and PCO2 . Especially in developing countries, in cases where opportunities are limited, the severity of the disease, the need for more aggressive treatment, and the need for higher-level intensive care can be determined with the easily accessible and low-cost blood gas PCO2 at the bedside.

At what speed does spinal degeneration gear up?: Aging Paradigm in patients with Low Back Pain.

OBJECTIVE: Aging is a cause of spinal degeneration. However, the natural history of degeneration process is unclear. We aimed to analyze change of intervertebral disc degeneration (IVDD) and Modic changes in Caucasians with LBP decade by decade. We also aimed to find out breaking points of having severe IVDD and Modic changes throughout human life. PATIENTS AND METHODS: We conducted a cross-sectional analysis of a retrospective database in patients aged between 10 and 100 years. All patients were evaluated in terms of IVDD and Modic changes. Optimal binning was conveyed to group age of the patients in terms of major changes in percentages of severe IVDD and Modic changes. RESULTS: We evaluated 2434 patients (female: 1328 and male: 1106; mean age: 47.2 ± 17.2 years; age range = 10-98 years). In all patients, 50.5% and 23.6% had severe IVDD and Modic changes at any lumbar level, respectively. Women were significantly more likely to have severe IVDD than men. Frequency of Modic changes at any lumbar level significantly increased in 40 s and 60 s, whereas frequency of severe IVDD at any lumbar level significantly increased in 20 s, 30 s, 50 s and 70 s CONCLUSION: Spinal degeneration had specific gear-up periods in human life. Age groups of future spine studies could be defined according to the new defined change periods of severe IVDD and Modic changes in human life.

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.

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.

A new species of Tinna (Hemiptera: Heteroptera: Reduviidae) from Nigeria.

Tinna schoenitzeri sp. nov. (Hemiptera: Heteroptera: Reduviidae: Emesinae: Leistarchini) is described from Nigeria. Digital macrophotographs and scanning electron micrographs of the new species are given.

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.

Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations.

Purpose: Behçet's disease (BD) is an autoinflammatory disease with clinical manifestations such as mucocutaneous, ocular, vascular, gastrointestinal, musculoskeletal and central nervous system involvement. Features of innate and adaptive immunity and inflammasome pathways have been claimed in the pathogenesis of BD. We aimed to investigate the roles of NOD1, NOD2, PYDC1 and PYDC2 genes in the genetic predisposition of BD.Materials and Methods: Genetic variations of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) genes were explored in 68 BD patients and 70 controls with PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) approach. PYDC1 and PYDC2 gene variants were investigated by Sanger sequencing.Results: The polymorphism of rs2075820 (NOD1 G/A) had a statistically significant difference between the BD and controls, AA genotype was 2.460-fold protective. When compared in terms of cardiovascular involvement in BD patients, AA genotype was increased the risk of cardiovascular involvement 4.286-fold. There was a significant difference between BD and controls in rs2075818 (NOD1 G/C) polymorphism and CC genotype increased the risk of BD by 3.780-fold. In terms of rs2075818 variants, there was a statistically significant difference between BD patients with ocular lesions, joints, cardiovascular and gastrointestinal involvement and controls. There was a significant difference between the patients with joint involvement and controls and the risk increased of 3.310-fold.Conclusion: The data shed new light on the association between polymorphisms of NOD1 gene and BD and clinicial manifestations. However, NOD2, PYDC1 and PYDC2 genes were not associated with BD in the Turkish population.