Effectiveness of cerebellar education training in theory of mind and working memory of children with Oppositional Defiant Disorder

Introduction: Oppositional Defiant Disorder (ODD) is one of the common childhood disorders with extensive negative effects on people emotional, metacognitive, cognitive, and communication processes. Aim: This study aimed to investigate the effectiveness of cerebellar training in the theory of mind and working memory of children with ODD. Method: This semi-experimental study utilized a pretest-posttest and follow-up design with a control group. The statistical population included all 5-6-year-old children with ODD in Gonbad-e Kavus city in 2022. A convenience sample of 40 people was assigned to experimental and control groups. The experimental group underwent cerebellum training in 20 sessions of 40 minutes, three sessions per week, while the control group did not receive any training. The research instruments included the Disorders of Children Symptom Inventory-4 (CSI-4) (1994), Theory of Mind Test (1999), and Counting Span Test (2003). The data were analyzed by SPSS-24 software using the repeated measures analysis of variance. Results: Cerebellar training significantly improved working memory and theory of mind in the posttest and follow-up stages (P<0.01). Also, 31.7% of the difference between the groups in the theory of mind, 21.5% in the forward memory span, and 17.9% in the backward memory span was due to the intervention effect. Conclusion: Cerebellar training was effective on working memory and theory of mind of children with ODD. This research provides useful information regarding the cerebellum training package. Counselors and psychologists can use this intervention to improve working memory and the theory of mind of children with ODD

Association of Interleukin 10 And Transforming Growth Factor β Gene Polymorphisms with Chronic Idiopathic Urticaria

Transforming growth factor β (TGF-β) and interleukin 10 (IL-10) are two anti-inflammatory cytokines that are implicated in the pathogenesis of urticaria. The goal of this study was to examine the possible association of polymorphisms of TGF-β and IL-10 genes with susceptibility to chronic idiopathic urticaria (CIU). This study was conducted on 90 patients with CIU. Polymerase chain reaction (PCR) was done to determine the genotype at 5 polymorphic sites; TGF-β (codon10C/T and codon25G/C) and IL-10 (-1082G/A, -819C/T, and -592C/A). The C allele at codon 25 of TGF-β was more prevalent in CIU patients compared to controls (OR = 9.5, 95% CI = 5.4-16.8, P<0.001). Genotypes of CT and CG at 10 and 25 codons of TGF-β gene, respectively, and AG, CT, and CA for loci of -1082, -819, and -592 of IL-10 gene were significantly higher in CIU patients (P<0.001). In haplotype analysis, frequency of TGF-β haplotypes differed between patients with CIU and controls; CC haplotype was overrepresented, while CG and TG haplotypes were underrepresented (P<0.001). These results suggest that TGF-β and IL-10 genetic variability could contribute to susceptibility to CIU. Additionally, patients with CIU seem to have genotypes leading to high production of TGF-β and IL-10.</p

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity

Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with IEI listed in the Iranian IEI registry up to November 2022. We extracted each patient's demographic information, detailed clinical history of cutaneous manifestations, and immunologic evaluations. The patients were then categorized and compared based on their phenotypical classifications provided by the International Union of Immunological Societies. Most patients were categorized into syndromic combined immunodeficiency (25.1%), non-syndromic combined immunodeficiency (24.4%), predominantly antibody deficiency (20.7%), and diseases of immune dysregulation (20.5%). In total, 227 patients developed skin manifestations at a median (IQR) age of 2.0 (0.5-5.2) years; a total of 66 (40.7%) of these patients initially presented with these manifestations. Patients with cutaneous involvement were generally older at the time of diagnosis [5.0 (1.6-8.0) vs. 3.0 (1.0-7.0) years; p = 0.022]. Consanguinity was more common among patients who developed skin disorders (81.4% vs. 65.2%, p < 0.001). The overall skin infection rate and the type of dominant pathogens were significantly different among the IEI patients in different phenotypical classifications (p < 0.001). Atopic presentation, including urticaria, was highly prevalent among patients with congenital defects of phagocytes (p = 0.020). The frequency of eczema was also significantly higher among cases with both syndromic and non-syndromic combined immunodeficiency (p = 0.009). In contrast, autoimmune cutaneous manifestations, including alopecia and psoriasis, were most common in patients with immune dysregulation (p = 0.001) and defects in intrinsic or innate immunity (p = 0.031), respectively. The presence of autoimmune cutaneous complications significantly improved the survival rate of IEI patients (p = 0.21). In conclusion, cutaneous manifestations were observed in nearly 44% of Iranian patients with monogenic IEI. A considerable number of patients with cutaneous involvements developed these disorders as their first manifestation of the disease, which was particularly noticeable in patients with non-syndromic combined immunodeficiency and phagocytic defects. The neglected skin disorders in IEI patients might delay diagnosis, which is generally established within a 3-year interval from the development of skin-related problems. Cutaneous disorders, especially autoimmune features, might indicate a mild prognosis in IEI patients

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and esophageal candidiases with strictures associated with hypothyroidism and immune hemolytic anemia. His son also suffered from persistent candidiasis, chronic diarrhea, poor weight gain, and pneumonia that resulted in his demise because of sepsis. The immunological workup showed that an inverse CD4/CD8 ratio and serum immunoglobulins were all within normal ranges. The laboratory data revealed failure in response to Candida lymphocyte transformation test. In addition, by Sanger sequencing method, we found a heterozygous mutation, Thr385Met (T385M), located in the DNA-binding domain of STAT1, which was previously shown to be GOF. These findings illustrate the broad and variable clinical phenotype of heterozygous STAT1 GOF mutations. However, more clinical information and phenotype–genotype studies are required to define the clinical phenotype caused by AD STAT1 GOF

Global systematic review of primary immunodeficiency registries

Introduction During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear. Areas covered Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients. Expert opinion Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.Peer reviewe

Dose Assessment of Eye and Its Components in Proton Therapy by Monte Carlo Method

Introduction Proton therapy is used to treat malignant tumors such as melanoma inside the eye. Proton particles are adjusted according to various parameters such as tumor size and position and patient’s distance from the proton source. The purpose of this study was to assess absorbed doses in eyes and various tumors found in the area of sclera and choroid and the adjacent tissues in radiotherapy while changing most important proton therapy parameters such as moderators thickness (1.5-1.9 cm), exposure radius (0.5-0.8 cm), and proton energy beam (53.5-65 MeV). Materials and Methods A proton therapy system of Laboratori Nazionali del Sud-INFNwas simulated by Monte Carlo method. Moreover, the eye and its components were simulated using concentric spheres. To obtain a more accurate results, real density of eye components such as cornea and lens, were applied for simulation. Then, the absorbed dose of eye and eye tumor, in choroid and sclera areas, were calculated by Monte Carlo method. Results The absorbed dose in tumoral region of eye was calculated to be about 12.5 ±0.006Gy in one day with energy 62 MeV for a therapy session, which is suitable for treatment. However, normal eye cells received at most 11.01 Gy which is high. Conclusion The amount of absorbed dose in tumoral cells is noticeable. Therefore, accurate treatment planning, patient immobility and fine calibration of proton-therapy system and its simulator are very important to reduce the absorbed dose of healthy cells

Comparison of personality trait and emotional intelligence between the women who experienced domestic violence and control group

Aim. The aim of this research is comparing the role of personality traits and emotional intelligence between women who experienced domestic violence and  a control group. Methods. The statistical population of the study includes all women (700 participants) referred to the judicial authorities of Ardabil province in 2019.The research sample included 30 women who experienced domestic violence and 30 women as control group (not experienced domestic violence) who were selected by available sampling method. To measure emotional intelligence and personality traits, the Bar-on Emotional Intelligence Questionnaire and NEO Questionnaire was used. The questionnaires briefly describe and evaluate the two complex concepts of emotional intelligence and current emotional health. Data analysis was performed using SPSS statistical software and MANOVA. The main variables of the research were neuroticism, extroversion, openness, agreeableness, extra-individual skills, conscientiousness, interpersonal skills, adaptability, stress control and public mood. Results. The findings of the research have shown that among the characteristics of the five major personality factors (NEO), only the neuroticism component was more prevalent among women who experienced domestic violence, and the rest of the personality traits (extroversion, agreeableness, conscientiousness, and openness to new experiences) among control group were higher (P<0.05). Also, all components of emotional intelligence (extra-individual skills, intrapersonal skills, adaptability, stress control, and public mood) were higher among control group than those of women who experienced domestic violence (P<0.05).   Conlusion. As a result, it can be acknowledged that personality traits and emotional intelligence abilities are among the main factors related to domestic violence and are very important in preventing this violence

A one-year investigation of nut allergy cases in children referred to the allergy clinic of the children's medical center

Background: The prevalence of allergy to tree nuts is spreading worldwide. Allergy to tree nuts causes more severe clinical symptoms and anaphylaxis attacks are more likely. The present study was conducted in order to investigate the cases of tree nut allergy among children referred to the allergy clinic of the Children's Medical Center in a period of one year (from the beginning of 2018 to its end). Methods: There were 1920 children with a history of atopic disease (asthma, allergic rhinitis, atopic dermatitis, chronic urticaria) with a history of type I allergic reactions. Eighty seven patients with skin, digestive, respiratory symptoms or anaphylaxis after consuming tree nuts were included in the study. A skin test was performed for most of these people, and in some cases, the serum specific IgE level against the desired nuts was requested, and after confirming the positive history of allergy by the mentioned tests, a questionnaire containing 26 questions was completed by the parents to complete the information. Findings: The prevalence of allergy to tree nuts in the studied population was 4.5%. Allergy to almonds is at the top with a frequency of 62.1%. Totally, 55.2% of the patients were males.&nbsp