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Abstract Background Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease (NOMID). The rarity and complexity of the disease necessitate the description of new cases and a reexamination of our understanding of the condition. Case presentations We present three patients with NLRC4-GOF mutations and AIFEC phenotypes. The first patient is an infant girl with periodic fever, seizure, high inflammatory markers, and an episode of macrophage associated syndrome (MAS). History of recurrent fever episodes since childhood was reported in mother and maternal grandmother. A heterozygous mutation was found in CARD domain of NLRC4: c.A91C: p.Asn31His. The second patient is an adolescent boy with periodic fever, diarrhea, aphthous stomatitis, seizure, and central nervous system (CNS) vasculitis. A heterozygous mutation was found in NLRC4 gene: c.1202T > C. p. Val401Ala. The third patient is a child with chronic diarrhea and elevated inflammatory markers. We found a heterozygous mutation in NLRC4 gene: c.390delG: p.S132Afs*21. All mutations have been reported for the first time as NLRC4 mutations associated with autoinflammation. We introduced novel mutations in the CARD domain and between CARD and NBD domain in the first and third cases, respectively. All three children are under remission following treatment. Conclusions NLRC4-GOF mutations can be associated with autoinflammation with diverse symptoms. Given the rarity of the disease and the possibility of new mutations being identified, the existence of a phenotype/genotype correlation has yet to be thoroughly investigated. The variety in manifestations and severity spectrum mandates a variety of treatments. Adalimumab has shown favorable outcomes in our AIFEC cases.

Background: Systemic juvenile idiopathic arthritis (sJIA) is marked with arthritis and several features of systemic inflammation, including fever, rashes, hepatosplenomegaly, lymphadenopathy, and serositis. Interleukin-1 receptor blockers have been used as one of the most effective biologics for the treatment of resistant types of disease. The main purpose of this study was to evaluate the safety and efficacy of PerkinRA in comparison with Kineret in patients with sJIA. Methods: This was a double-blind, randomized clinical trial conducted on 72 patients with sJIA. The patients were enrolled based on the 2018 International League of Associations for Rheumatology criteria and were treated at the outpatient clinic of Mofid Children’s Hospital, Pediatric Medical Center, and four other centers between February 2020 and March 2021. Patients were randomly assigned in a 1:1 ratio to one of two treatment groups: one group received PerkinRA (manufactured by Persis Gene, n = 36), while the other group received Kineret (manufactured by SOBI, n = 36). The primary outcome measure was the proportion of patients achieving an American College of Rheumatology (ACR) 30, ACR 50, and ACR 70 response. Secondary outcomes included changes in vital signs, incidence of adverse events, clinical laboratory assessments, and findings from physical examinations. These parameters were evaluated at 1, 2, 4, 8, 12, 16, 20, and 24 weeks after the first injection, and the two treatment groups were compared. Results: A total of 35 patients in the PerkinRA group and 32 patients in the Kineret group were included in the final analysis. The results showed no clinically significant differences between the two treatment groups. Patients in both the PerkinRA and Kineret groups achieved similar proportions of ACR 30, ACR 50, and ACR 70 responses over the 6-month evaluation period. Conclusion: Based on the findings of this study, the two investigational medications, PerkinRA and Kineret, demonstrated comparable efficacy in the treatment of sJIA. The two treatment groups showed no significant differences in the primary and secondary outcomes assessed. Therefore, it can be concluded that PerkinRA and Kineret are noninferior to each other for the management of sJIA.

Abstract Background: Poor ovarian response and diminished ovarian reserves (DOR) significantly contribute to female infertility. Previous attempts have been made to enhance follicular growth and improve pregnancy outcomes in these participants. Objective: This study aimed to assess the efficacy of the in vitro drug-free activation technique of the ovarian reservation and in vitro fertilization stimulation cycle outcomes in DOR participants. Materials and Methods: This pilot phase study investigated the impact of in vitro activation (IVA) on ovarian reservation and in vitro fertilization outcome in 10 infertile women with DOR from May to December 2023 at Taleghani Infertility Center, Tehran, Iran. Participants underwent general surgery and laparoscopy, involving the removal of a portion of one ovary, immediate transfer to the laboratory, dissection into small cubes, and subsequent re-implantation into the cases's ovary. The primary outcomes, include the count of retrieved oocytes, the number of oocytes reaching metaphase, and the secondary outcomes were the quantity and the number of embryos transferred, implantation rate, and occurrence of clinical pregnancy. Results: The study revealed a significant increase in the antral follicle count before and after IVA (p = 0.033). Before IVA, the median estradiol level was 93.5 (57.0), which reduced to 79.0 (35.0) after IVA, indicating a statistically significant difference. On average, 2.3 (0.8) oocytes were retrieved, among which 1.5 (0.7) were metaphase II oocytes. The observed pregnancy rate among the 2 cases was 22.2%. Conclusion: The current study suggests that IVA may positively impact follicular growth and pregnancy outcomes among women with DOR.

Abstract Background Kawasaki Disease (KD) involves arterial inflammation, primarily affecting the coronary arteries and leading to coronary artery lesions. Recent advancements in understanding the immunomodulatory roles of vitamin D have prompted investigations into the potential correlation between serum vitamin D levels and the risk of coronary artery lesions (CAL) in KD. This review aims to explore this association. Methods A systematic search utilizing relevant keywords related to Kawasaki disease and coronary artery lesions was conducted across four databases (PubMed, Embase, Scopus, and Web of Science). The quality of the incorporated studies was assessed utilizing the Newcastle-Ottawa Scale. The study protocol is registered in PROSPERO under the registry code CRD42024493204. Results In a review of five studies involving 442 KD patients and 594 healthy controls, KD patients generally had lower serum vitamin D levels compared to controls, with mixed findings on the association with coronary artery lesions and IVIG resistance. While three studies supported lower vitamin D in KD, one showed no significant difference. Regarding CAL, one study found lower vitamin D, another found higher levels associated with CAL, and two found no significant difference. Conclusions Overall, the evidence is inconclusive, but there’s a trend suggesting potential benefits of sufficient vitamin D levels in Kawasaki disease rather than evidence refuting any association with clinical outcomes.

Objectives Human Papillomavirus (HPV) is a leading cause of cervical cancer, yet existing social stigmas and unequal access to healthcare compromise its preventability through screening and vaccination. Understanding healthcare professionals’ knowledge and perceptions of HPV is pivotal in enhancing the quality and effectiveness of preventive healthcare strategies. This article aims to explore and understand the relationship between healthcare workers’ knowledge and stigma towards HPV. Design and Methods A questionnaire of 27 stigma and 24 knowledge questions was provided for healthcare personnel. Demographic questions were also included. Stigma levels were determined based on a total median score. Fully adjusted multinomial logistic regression models were used to find the correlation between knowledge regarding HPV and the stigma level. Results Five hundred fifty-two healthcare workers answered the questionnaire. The findings showed that while most participants had adequate to moderate knowledge about the prevention and complications of HPV, they lacked knowledge about symptoms and treatment. Stigma towards HPV disease was evident in some participants, with attitudes varying depending on demographic factors and knowledge level. The model indicated that age, gender, and specific knowledge questions were significantly associated with stigma levels. Interestingly, the presence of knowledge in some areas increased the stigma level. Conclusions In conclusion, the study sheds light on the stigmatization and knowledge gaps regarding HPV disease among healthcare personnel and, intriguingly, that increased knowledge does not necessarily correlate with decreased stigma. The findings highlight the need for targeted education and training programs to improve healthcare providers’ knowledge in these specific areas.

Innovative strides in polymer synthesis have led to the successful living anionic polymerization of styrene-olefin triblock copolymers, yielding varying molecular weights and a remarkably narrow dispersity (Đ) in cyclohexane solvent at 45°C, initiated by n-butyllithium. The novel approach employs anionic polymerization, augmented by the aid of a coupling agent known as 1,12-dibromododecane. Unlike traditional alcohol-based methods employed in polystyrene synthesis, this coupling agent, introduced at the end of the reaction, grafts two living macro-styrene chains with the dodecane chain, effectively acting as the pivotal second component in the formation of the triblock copolymer. Extensive experimentation pinpointed 45°C as the optimal temperature for anionic copolymerization in cyclohexane solvent. The comprehensive analysis, encompassing 13C NMR, 1H NMR, FTIR spectroscopy, and GPC, confirms the successful synthesis of styrene-dodecane-styrene triblock copolymer. The NMR results illustrate successful molecular structures, while GPC attests to the precision, showing a narrow Đ of below 1.2. This pioneering approach not only underscores the efficiency of anionic polymerization in the synthesis of styrene-olefin-styrene triblock copolymer using termination strategy but also promises extensive implications in material science and industrial applications.

Introduction: Considering the financial support provided by insurance and the government for burn patients in Iran, and recognizing the substantial economic impact associated with their treatment, there is a pressing need to delve into the epidemiology of these patients and analyze the related costs. This study aims to explore the epidemiological aspects and hospitalization costs of burn patients specifically within the burn ward of Imam Reza 68-bed Hospital in Mashhad, a regional center of referral in the eastern part of the country. Methods: Data had extracted from the electronic data collection system, which is used on a daily basis in the hospital. We included patients with a primary or secondary diagnosis of burns, code T20.0-T32.9 and T95 according to the International Classification of Diseases ICD-10. Ultimately, 1151 patients were included in the study. We analyzed 1151 burn cases in terms of patients’ age at the time of the event, gender, type of burn (Chemical, scalds, flame, electrical and contact burns), anatomical location of the burn (head and neck, upper limb, lower limb, multiple regions and part unspecified), burn etiology, burn degree (I, II, III), total burn surface area (%TBSA), Inpatient ward, expenditure ($), burn mortality rate and length of hospitalization. The age group was divided into seven groups by the 10 years intervals. Statistical analysis of the data was performed using SPSS-16 and Excel software. Results: 1151 patients were included in the study. High-risk groups are pediatric up to nine (0–9) years. According to age, we found that most cases were children, respectively, 25% (291) cases. Men accounted for 743 cases (65%), women for 408 (35%). Major causes of severe burn injury were flame burns (49%) and scalds (43%). Unspecified was the most common burn location (40%), followed by the multiple regions (23%) and upper limb (11%). In cases of head and neck burns, the financial burden on the patient is elevated compared to other types of burns due to increased expenses for medications, disposable medical instruments, and hoteling. The main items for the burned patients are hoteling (38% of total costs), surgeon (24%), medicine (16%), and medical consumables (6%). The per capita expenditure was $9,365 ± $8,100 in pediatrics and $11,179 ± $10,180 in adults Conclusions: Most cases of death were related to burn in multiple areas of the body and then trunk burn (30% and 19%, respectively) and no death was observed in patients with hand and wrist burn. Burns can be incredibly severe and life-threatening, especially when they affect multiple areas of the body, such as the trunk and any burn injury is still a serious matter. It's important to prioritize fire safety and take precautions to prevent such accidents from happening.

Abstract COVID-19 has been a global public health and economic challenge. Screening for the SARS-CoV-2 virus has been a key part of disease mitigation while the world continues to move forward, and lessons learned will benefit disease detection beyond COVID-19. Saliva specimen collection offers a less invasive, time- and cost-effective alternative to standard nasopharyngeal swabs. We optimized two different methods of saliva sample processing for RT-qPCR testing. Two methods were optimized to provide two cost-efficient ways to do testing for a minimum of four samples by pooling in a 2.0 mL tube and decrease the need for more highly trained personnel. Acid-pH-based RNA extraction method can be done without the need for expensive kits. Direct Lysis is a quick one-step reaction that can be applied quickly. Our optimized Acid-pH and Direct Lysis protocols are reliable and reproducible, detecting the beta-2 microglobulin (B2M) mRNA in saliva as an internal control from 97 to 96.7% of samples, respectively. The cycle threshold (Ct) values for B2M were significantly higher in the Direct Lysis protocol than in the Acid-pH protocol. The limit of detection for N1 gene was higher in Direct Lysis at ≤ 5 copies/μL than Acid-pH. Saliva samples collected over the course of several days from two COVID-positive individuals demonstrated Ct values for N1 that were consistently higher from Direct Lysis compared to Acid-pH. Collectively, this work supports that each of these techniques can be used to screen for SARS-CoV-2 in saliva for a cost-effective screening platform.

Background: Hemophilia and transfusion-dependent patients are at high risk of a wide range of blood-borne agents. Among these, SEN virus (SENV) stands out as a significant concern due to its association with transfusion-induced non-A to non-E hepatitis. This study, therefore, aimed to investigate the prevalence of this virus in hemophilia patients, focusing on potential complications and risk factors. Method: This was a cross-sectional study conducted in a hemophilia center in the east of Iran. Blood samples were taken from patients and healthy people, and demographic and clinical information was collected. The sera samples were then subjected to DNA extraction. PCR-based methods detected SENV and its genotype, and then phylogenetic analysis was performed. The collected data were analyzed and interpreted by SPSS22 software. Results: The mean age of patients and the healthy group was 26.18 ± 14.97 and 41.69 ± 14.05, respectively. Among the patient and healthy groups, 94.5 % and 36.4 % were male, and the rest were female, respectively. Most of the participants in the patient group had hemophilia type A (85.5 %), then type B (7.3 %), VWD type (3.6 %), and F and plt type (1.8 %) were in the next categories. SENV-DNA was detected in 58.2 % of patients and 20 % of healthy groups (P-value: 0.00). Among these, H and D genotypes were found in 35 % and 23.7 % of patients and 12.7 % and 7.3 % of healthy groups, respectively. The prevalence of the virus was significantly related to minor elevation of AST and was higher in hemophilia type A (63.8 %) and severe type of disease (63.2 %). Conclusion: This study underscore the significant prevalence of the SENV virus in hemophilia patients, a particularly noteworthy finding compared to the healthy population. With the limited information available about this virus, our findings highlight the importance of continuous monitoring and follow-up of high-risk groups in relation to blood-borne pathogens, providing reassurance about the ongoing efforts in the field.