Objective: The study aims to evaluate the nutrition literacy and healthy lifestyle beliefs among adolescents with Type 1 Diabetes Mellitus (T1D) and identify their relationship to metabolic control. Methods: This cross-sectional study included 153 adolescents aged 10-19 years who were being followed in the outpatient clinic of a tertiary hospital with a diagnosis of T1D for more than one year and had no comorbidities requiring dietary treatment. All participants completed the Adolescent Nutrition Literacy Scale (ANLS) and Healthy Lifestyle Belief Scale for Adolescents (HLBS) during a regularly scheduled medical visit. Hospital records yielded the last three months’ HbA1c levels to assess metabolic control. Targeted metabolic control was defined as ≤7% HbA1c. Results: The median age of the participants was 14.66 (4.42) years (45.8% were female), 58.2% had a normal BMI z-score, and 26.8% were achieving target HbA1c (≤7%). There was a positive correlation between the HLBS total score and the ANLS total score (r=0.39, p=0.001). The ‘interactive’ subfactor of ANLS, which evaluates the capacity to manage the process of nutrition in cooperation with nutrition and health professionals, was correlated with healthy lifestyle beliefs (r= 0.28, p= 0.001). Another ANLS subfactor, the ‘critical’ subfactor, which assesses the capacity to make critical judgments about nutrition-related information and to take actions to raise awareness in this area, was also correlated with healthy lifestyle beliefs (r = 0.37, p = 0.001). There was no difference between HLBS and ANLS total and subfactor scores between those who achieved (≤7%) and failed to achieve (>7%) the HbA1c target (p>0.05). Conclusions: The findings of this study suggest that nutrition literacy is a notable determinant of the adoption of healthy lifestyle beliefs among adolescents with T1D. Further research with a larger sample is needed to investigate indirect effects on diabetes self-management and long-term metabolic outcomes.
Objective: Soft neurological signs (SNS) are subtle indicators detected during neurological examination in the absence of an overt neurological disorder. This study aimed to investigate the presence of SNS in obese children. Methods: A total of 61 obese children and 57 healthy controls (HCs) were evaluated using the Neurological Evaluation Scale (NES) to assess the presence of SNS. Results: There were no significant differences between the obese and HC groups regarding age and sex (p>0.05). The sensory integration, motor coordination, complex sequential motor acts, other NES, and total NES scores were significantly higher in the obese group compared with HCs (p=0.005, p=0.009, p=0.004, p=0.002, and <0.001, respectively). Conclusion: This is the first study to demonstrate a significant presence of SNS in obese children using the NES. Incorporating SNS assessment into routine obesity evaluations may help identify children at risk for early neurodevelopmental changes.
Acute urinary retention is an uncommon clinical condition in childhood and adolescence and is typically linked to neurological, infectious, or structural causes. Hematometrocolpos secondary to imperforate hymen is a well-recognized gynecologic condition that may be overlooked and may present with urinary retention, particularly in adolescents. We report the case of a 12-year-old girl with no significant past medical history who presented to the pediatric emergency department with suprapubic pain and an inability to void. Despite clear pubertal development (Tanner stage IV), she had primary amenorrhea. Pelvic imaging demonstrated a large fluid-filled mass consistent with hematometrocolpos due to an imperforate hymen. Hymenotomy was performed with drainage of approximately 500 mL of retained menstrual blood. The postoperative course was uneventful, and spontaneous menstruation began three weeks later. This case highlights the educational value of recognizing gynecologic causes of urinary retention, particularly in emergency settings where the diagnosis may be missed due to the predominance of urologic and neurologic considerations. A careful physical examination in pubertal girls presenting with acute urinary retention, especially in the presence of primary amenorrhea and cyclic abdominal pain, is essential to ensure early diagnosis and to avoid unnecessary investigations and delays in management.
Objective: Ebstein’s anomaly is a rare congenital heart defect featuring a varied spectrum of clinical presentation. Anatomical variability in the malformation, together with a frequent association with other cardiac defects and arrhythmias, can complicate diagnosis and long-term management. Methods: Data from a total of 26 patients with Ebstein’s anomaly followed up at two university clinics between 2009 and 2025 were analyzed retrospectively. Cases diagnosed from the prenatal period through adolescent period were included. Results: The cohort consisted of 26 patients; 69.2% (18/26) were males with a median diagnostic age of 8 days. Diagnoses were established prenatally 15.4% (4/26), neonatally 50.0% (13/26), or during later childhood and adolescence 34.6% (9/26). Diagnosis was made during the index NICU admission in 34.6% (9/26) of patients and based on referral for murmur 26.9% (7/26) or cyanosis 7.7% (2/26). Common associated anomalies included atrial-level shunts 61.5% (16/26), mitral regurgitation 23.1% (6/26), and ventricular septal defects 15.4% (4/26). Arrhythmias were documented in 23.1% (6/21) of the cohort; 42.3% (11/26) underwent catheter-based procedures, and 30.8% (8/26) required surgery (median age at first surgery, 8.4 months), with 15.4%(4/26) undergoing reoperation. Over a median 5-year follow-up, mortality was 15.4% (4/26), with no perioperative deaths. Among prenatally diagnosed cases (n=4), three deaths occurred (3/4, 75%). Conclusions: The clinical spectrum of Ebstein’s anomaly is exceptionally broad. Our findings show frequent left heart involvement and a substantial need for catheter-based and surgical interventions, supporting the importance of individualized assessment and follow-up across the disease course.
Objective: Advances in transcatheter closure device materials ensure safety and long-term effectiveness in most atrial septal defect (ASD) cases. Methods: This single-center study retrospectively evaluated outcomes in 26 pediatric patients who underwent transcatheter ASD closure between 2023 and 2025. Transcatheter closure was attempted using the Occlutech® Figulla Flex II ASD Occluder (OFSO). Follow-up evaluations of device-specific outcomes, procedural success rates, and complications were recorded. Results: The average age of the patients was 9.3 ± 4.1 years, and 61.5% were girls. Of the total patients, 11.5% had a large defect. A complication occurred in 1 patient (3.8%). Conclusion: Transcatheter closure of ASD with the OFSO device is a safe and effective treatment strategy for children, demonstrating a high procedural success rate and an overall complication rate of 3.8%.
Objective: This study aimed to examine the association between adherence to the Mediterranean diet (MD), sleep disturbances, and quality of life (QoL) in children with asthma. Methods: A cross-sectional study was conducted with 77 children aged 7–12 years diagnosed with physician-diagnosed, well-controlled asthma receiving low-dose controller therapy. Dietary intake was evaluated using three-day food records and the KIDMED index. Sleep quality and QoL were analyzed using the Sleep Disturbance Scale for Children (SDSC) and the Pediatric Asthma Quality of Life Questionnaire (PAQLQ), respectively. Correlation and regression analyses were performed. Results: Moderate adherence to the MD was observed in 49.4% of participants. Greater adherence to MD was associated with fewer arousal-related sleep disturbances (r = –0.283, p < 0.05) and and lower total sleep disturbance scores (r = −0.241, p < 0.05).. A one-point increase in KIDMED score was associated with a 0.758-point decrease in SDSC score. Higher SDSC scores were significantly associated with lower PAQLQ scores (r = −0.356, p < 0.01). Conclusions: Greater adherence to the Mediterranean diet may reduce sleep disturbances and enhance quality of life in asthmatic children, supporting its potential role in asthma management.
Objective: Behçet’s disease (BD) is a variable-vessel vasculitis with multisystemic involvement. Although cytokine dysregulation has been extensively investigated, data on angiogenic and vascular marker profiles remain limited in pediatric BD. This exploratory study aimed to characterize circulating vascular and inflammatory mediator profiles in pediatric BD, compare them with deficiency of adenosine deaminase 2 (DADA2) and polyarteritis nodosa (PAN). It further aimed to assess whether these markers were associated with vascular or central nervous system (CNS) involvement in BD. Methods: Serum samples from BD (n=34), DADA2 (n=20), PAN (n=10), and healthy controls (n=8) were analyzed for thirteen vascular and inflammatory markers (TIE1, TIE2, FLT1, sT2, RAGE, CD40L, LIGHT, PlGF, TNF-α, IL-6, IL-10, IL-18, MCP-1) using a multiplex bead-based immunoassay. Statistical analyses included Kruskal–Wallis and Mann–Whitney U tests for group comparisons, logistic and linear regression for associations with clinical features, and Spearman correlation to explore interrelations among markers. Results: TIE2 levels were significantly reduced in BD compared with healthy controls (p=0.010). DADA2 patients exhibited a distinct angiogenic–inflammatory profile, with significantly elevated levels of TIE1, TIE2, FLT1, TNF-α, IL-10, IL-18, and MCP-1 (all p<0.010) compared with both BD and PAN. None of the circulating markers independently predicted vascular or CNS involvement in BD. Strong positive correlations among angiogenic mediators (FLT1, PlGF, LIGHT) suggested a coordinated vascular signaling pattern, particularly in DADA2. Conclusion: Although individual circulating mediators showed limited discriminatory performance across vasculitis subtypes, DADA2 displayed a more distinct vascular-inflammatory profile characterized by TNF-α- and TIE2-related pathways. In pediatric BD, reduced TIE2 may reflect altered endothelial homeostasis, although this finding should be interpreted cautiously. These results support the need for integrated multi-marker approaches and longitudinal sampling to better define vascular-immune phenotypes in pediatric vasculitis.
Objective: The coexistence of psoriasis and juvenile‑onset systemic lupus erythematosus (jSLE) is rare, and data on familial aggregation of psoriasis across pediatric rheumatic diseases are limited. This study evaluated the co-existence of psoriasis in jSLE, its familial clustering, and its association with the jSLE phenotype. Methods: In this single‑center cross‑sectional study, patients with jSLE, familial Mediterranean fever (FMF), and juvenile systemic sclerosis (jSSc) were systematically screened for personal and family histories of psoriasis. Recurrence risk ratios for psoriasis were calculated separately for patients and their relatives within each disease group. Among patients with jSLE, clinical manifestations, laboratory parameters, and disease activity (SLEDAI‑2K) were compared between those with and without personal and/or familial psoriasis. Results: Of 189 patients with pediatric rheumatic diseases included, 94 (49.7%) had jSLE, 73 (38.6%) had FMF, and 22 (11.7%) had jSSc; 69.3% were female, with a higher frequency in jSLE patients (85.1%). Overall, 7,034 individuals (patients and relatives) were systematically screened for psoriasis. Psoriasis was identified in 4 patients (2.1%), all with jSLE (4.3%), and in 25 relatives (0.36%), yielding an overall prevalence of 0.41%. The combined prevalence of psoriasis in jSLE patients and their relatives (0.54%) was significantly higher than in FMF (0.35%) and jSSc (0%) families (p = 0.034). Recurrence risk ratios (λ) for psoriasis in jSLE families were 10.13 for patients and 3.07, 1.16, and 0.67 for first‑, second‑, and third‑degree relatives, respectively; corresponding λ values in FMF families were 0, 1.88, 1.11, and 0.45. Among 94 patients with jSLE, 20 had a personal or family history of psoriasis. However, their clinical signs, laboratory results, and SLEDAI-2K scores showed no significant differences compared with those without a history of psoriasis (p > 0.05). Conclusion: A positive family history of psoriasis is more common in jSLE than in FMF or jSSc, supporting the hypothesis of a shared genetic background between psoriasis and jSLE, but it was not associated with more severe jSLE in this cohort. These findings underscore the importance of routinely assessing familial psoriasis in jSLE and related disorders and warrant confirmation in larger, prospective, population‑based studies.
Background: Protracted bacterial bronchitis (PBB) is an increasingly recognized cause of chronic wet cough in children and may lead to bronchiectasis if not adequately treated. However, data regarding its clinical presentation and associated risk factors remain limited. Objective: To evaluate the clinical, radiological, and microbiological characteristics of children diagnosed with PBB and to identify factors associated with disease severity and recurrence. Methods: This cross-sectional study included 49 children followed in a pediatric pulmonology clinic with a diagnosis of PBB. Demographic features, comorbidities, sputum microbiology, pulmonary function tests, thoracic computed tomography (CT) findings, and serum vitamin D levels were analyzed. The association between clinical parameters and annual bronchitis frequency was evaluated using correlation analyses. Results: Forty-nine children were analyzed (69.3% female), with a median age of 7 years. Asthma and atopy were present in 65.3% and 30.6% of patients, respectively. A pathogen was isolated in 63.3% of sputum samples, with Haemophilus influenzae being the most common agent (41.9%). A moderate inverse correlation was detected between serum vitamin D levels and the annual number of bronchitis episodes (ρ = −0.56; p = 0.0016). Spirometry values were mostly within normal limits; however, weak inverse correlations were observed between pulmonary function parameters and exacerbation frequency. Thoracic CT abnormalities were identified in 81.9% of patients, most commonly bronchial wall thickening. Conclusion: PBB is frequently accompanied by asthma and recurrent infections. H. influenzae appears to be associated with increased disease burden. Low vitamin D levels may contribute to higher susceptibility to recurrent bronchitis. Early diagnosis and targeted microbiological evaluation are essential to prevent long-term pulmonary complications.
Objectives: Biologic disease-modifying antirheumatic drugs (bDMARDs) have been frequently used to treat juvenile idiopathic arthritis (JIA) resistant to classical (c) DMARDs. There is concern that vaccines may reduce vaccine effectiveness due to their immunosuppressive effects. This study aimed to evaluate the prevalence of anti-hepatitis B surface (HBs) antibody positivity in JIA patients treated with bDMARDs and to compare it with that in JIA patients treated with cDMARDs and in healthy controls. Materials and Methods: Anti-HBs antibody positivity and titers were compared between patients with JIAtreated with bDMARDs or only cDMARDs, followed in our clinic, and healthy controls aged 2-20 years. All participants were vaccinated in infancy according to the routine vaccination schedule in our country. Anti-HBs titers >= 10 IU/L were considered seroprotective. Results: Ninety-two JIA patients receiving cDMARDs, 92 receiving bDMARDs, and 91 healthy controls were included in the study. The median time from the last vaccination to the study was 12.5 (min-max:3.5-17.55) years in controls, 12.5 (min-max:1.75-19.5) years in patients with cDMARDs, and 13.0 (min-max:2.25-19.0) years in patients with bDMARDs (p=0.060). Anti-HBs was positive in 50 (54.9%) controls, 66 (71.7%) patients with cDMARDs, and 62 (67.4%) patients with bDMARDs (p=0.048). Age, time from vaccination to study, and duration of bDMARD use were found to be risk factors for anti-HBs negativity in univariate regression analyses. According to the multivariable analysis of these three variables, the duration of bDMARD use was an independent risk factor for anti-HBs negativity (OR: 1.023, 95% CI: 1.005-1.041, p=0.013). Anti-HBs negativity was associated with a duration of bDMARDs longer than 32 months (AUC: 0.658, 95%CI: 0.541-0.776, p=0.014) with 60.0% sensitivity, and 59.7% specificity. Conclusions: A longer duration of bDMARDs was found to be a risk factor for anti-HBs negativity. Physicians should be careful in terms of anti-HBs negativity when the duration of biologics use is prolonged.
Objective: The pulmonary arterial capacitance index (PACi) has recently emerged as a dynamic marker of pulmonary vascular compliance. However, its clinical relevance in pediatric pulmonary arterial hypertension (PAH), and particularly its relationship with functional capacity and exercise tolerance in congenital heart disease (CHD), remains unclear. This study explored these associations and assessed changes following PAH-specific therapy. Materials and Methods: Thirty-five patients with CHD-associated PAH with a mean pulmonary artery pressure (mPAP)≥20 mmHg receiving PAH-specific therapy and 35 age-, sex-, and anthropometry-matched CHD controls without PAH were evaluated. Demographic characteristics, hemodynamic parameters, PACi, functional class, brain natriuretic peptide (BNP) levels, and six-minute walk test (6MWT) distances were compared. Pre- and post-treatment hemodynamic and clinical parameters were also analyzed in the PAH group. Results: Ventricular septal defect was the most common CHD in both groups. Children with PAH had significantly higher mPAP and pulmonary vascular resistance index (PVRi) and lower PACi than controls. PACi was inversely correlated with mPAP (r=-0.383, p=0.023) and PVRi (r=-0.812, p
Objective: In this study, we investigated the initial serum immunoglobulin and lymphocyte subset levels of children with immune thrombocytopenia (ITP), and their association with treatment response. Methods: Thirty children with ITP were retrospectively analyzed. Immunoglobulin isotypes, IgG subtypes, and lymphocyte subset levels in the patients were compared with those of the age- and sex-matched control group and age-appropriate reference values. In addition, we investigated the relationship between immunological parameters and treatment responses. Results: There was no statistically significant difference between the patient and control groups regarding immunoglobulin isotype and IgG subtype levels. However, IgG levels were below normal limits in 10 (33.3%) patients, and IgA and IgG2 levels were low in 2 patients with normal IgG levels. Younger age and low IgG level at diagnosis were associated with an increased treatment response on day 7. Conclusion: Serum immunoglobulin levels at the time of diagnosis can help predict treatment response in the early period and detect subclinical immunodeficiency in children with acute ITP.
Serum sickness-like reaction (SSLR) is an immunologic process most often triggered by (3-lactam antibiotics or viral infections, typically presenting with urticarial rash, arthralgias, and low-grade fever. This report describes concurrent SSLR in 5-year-old fraternal twin girls after amoxicillin exposure for presumed viral pharyngitis. Twin A developed diffuse urticaria, facial and extremity swelling, arthralgias, and mucosal discomfort. Laboratory studies showed leukocytosis, elevated inflammatory markers, and detection of rhinovirus/enterovirus by PCR. She required hospitalization, systemic corticosteroids, and multimodal analgesia, with gradual improvement over several days. Twin B developed similar symptoms three days later, including rash, edema, and joint pain, but had a milder course managed with antihistamines and supportive care. The simultaneous occurrence of SSLR in siblings is rarely reported, and concurrent presentation in fraternal twins has not been described in the literature. This case highlights the interplay of shared environmental exposures, potential infectious triggers, and host susceptibility in SSLR, as well as the variability of disease expression even among related children. Awareness of SSLR in the differential diagnosis of rash and arthralgia following antibiotic exposure can prevent unnecessary investigations, guide supportive treatment, and reduce morbidity.
Objective: Inborn errors of immunity (IEIs) comprise a genetically heterogeneous group of disorders predisposing individuals to recurrent and severe infections, autoimmunity, and immune dysregulation. Next-generation sequencing (NGS) has greatly improved diagnostic efficiency by allowing simultaneous analysis of multiple genes. This study aimed to evaluate the molecular diagnostic yield and characterize the variant spectrum in patients with suspected IEIs using a targeted NGS panel. Methods: A total of 101 pediatric patients clinically diagnosed with IEIs and referred to the Pediatric Genetics Department & Uuml;mraniye Training and Research Hospital between 2018 and 2021 were included in the study. Genetic analysis was performed using a targeted NGS panel encompassing 260 genes associated with IEIs. Variants were interpreted according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) and Clinical Genome (ClinGen) Sequence Variant Interpretation (SVI) guidelines. Single-nucleotide variants (SNVs) were confirmed by Sanger sequencing, and copy number variants (CNVs) were validated using array-based comparative genomic hybridization (array-CGH). Results: Pathogenic or likely pathogenic (P/LP) variants were identified in 25 of 101 patients (24.7%), yielding 26 distinct variants across 21 genes, including one patient with two variants in a compound heterozygous state. Among these, 18 were homozygous, 3 heterozygous, 3 hemizygous, and 1 compound heterozygous. The most frequently affected genes were RAG1, DCLRE1C, SPINK5, and STAT1. Three novel variants were identified, expanding the known mutational spectrum of IEIs. In addition, several variants initially identified in this cohort were later reported by our group, highlighting the contribution of our study to the expanding genetic spectrum of IEIs in T & uuml;rkiye. Most variants exhibited autosomal recessive inheritance, consistent with the high consanguinity rate in the study population. Conclusion: In our IEI cohort, targeted NGS achieved a 24.7% molecular diagnostic yield and successfully identified both known and novel pathogenic variants across a broad spectrum of genes. These findings highlight the diagnostic value of targeted NGS in genetically and clinically heterogeneous conditions such as IEIs and underscore the importance of population-specific variant databases for improving variant interpretation and optimizing patient care.
Objective: This study aimed to evaluate the effect of training teachers using the video simulation method on their knowledge of epileptic seizure management and on their first-aid intervention skills. Methods: A survey was distributed to 250 participating teachers working in both private and public schools. The survey included basic demographic information, teachers' awareness of epilepsy, and their knowledge of first aid measures. Subsequently, the teachers received a training session on general information about epilepsy, first response to epileptic seizures, and emergency procedures using the video simulation training method. Awareness and attitudes were reassessed using the same survey. Results: The study involved 250 participants with an average age of 39.76 years, 62.8% female, and 78.4% working in the public sector. Participants with connections to individuals with epilepsy had significantly higher pre-training correct response scores (p=0.026, p=0.001). 72.8% had received first-aid training, and 26.6% had performed first aid, but only 6.1% considered their knowledge sufficient. Before training, 94.4% recognized epilepsy as a neurological disorder. The awareness of epilepsy being treatable increased from 70.7% to 90.4% (p<0.001). Knowledge of proper seizure interventions significantly improved, with correct responses to questions about safe positioning and jaw clenching rising from 52.4% to 78.4% and 52.4% to 90.8%, respectively (p<0.001). The total number of correct answers significantly increased after training, from 9.38 +/- 4.18 to 11.59 +/- 3.64 (p<0.001). Conclusion: These findings indicate that video simulation training is an effective method for improving teachers' knowledge and first-aid skills in managing epileptic seizures, supporting the integration of structured simulation-based interventions into school-based emergency preparedness programs.
Background: The increasing use of AI-powered chatbots for health-related inquiries has positioned them as potential tools in combating vaccine hesitancy among parents. However, the reliability of these tools in delivering accurate, consistent, and actionable information on childhood immunization remains underexplored. Objective: This study aimed to assess how the most widely used AI chatbots guide parents seeking information about childhood vaccines, rather than comparing them against each other. Methods: A cross-sectional comparative design was used. Three freely accessible, commonly used AI conversational agents were each presented with 9 frequently asked parental questions about childhood vaccinations. To maintain neutrality and avoid brand-based interpretation bias, these chatbots are anonymized in the study as AICB 1, AICB 2, and AICB 3. Responses were independently evaluated across four domains—accuracy, consistency, information sufficiency, and source reliability—using a 5-point Likert scale. Each chatbot was tested in two temporally distinct sessions to assess consistency. Results: All chatbots generated scientifically accurate and temporally consistent responses. Mean composite scores were highest for AICB 1 (4.9), followed by AICB 2 (4.7) and AICB 3 (4.1). The performance difference was statistically significant (H = 11.27, p < 0.01). Despite the statistically significant differences between the agents, all three chatbots achieved high scores across the four evaluated dimensions. Conclusion: We need to know that AI chatbots can offer accessible, generally reliable information on vaccines and provide more reliable, accurate data than profit-driven websites; they should be used as supplementary tools, especially when addressing sensitive public health topics like childhood immunization.
Background: Pediatric autoimmune diseases (ADs) are more and more known as complicated conditions influenced by overlapping genetic and environmental factors; however, the coexistence of secondary ADs and their familial accumulation has not yet been explored thoroughly in pediatric populations. In this study we aimed to evaluate the occurrence and characteristics of secondary ADs among pediatric patients with autoimmune diseases followed in our pediatric rheumatology department and to examine the impact of a family history of autoimmunity on the development of secondary ADs. Methods: We retrospectively reviewed the records of 488 pediatric patients followed in our pediatric rheumatology department who were diagnosed with autoimmune diseases. We have collected clinical, serological, and familial data. Secondary ADs were defined as newly diagnosed autoimmune diseases evolving after the initial diagnosis. Kaplan-Meier analysis and logistic regression were used to determine predictive factors. Results: Secondary ADs were detected in 7% of patients. Systemic lupus erythematosus (SLE) (3.1%) was the mostfrequent, followed by autoimmune thyroid disease (0.8%), psoriasis (0.6%), and inflammatory bowel disease (0.6%). Among patients who developed SLE as a secondary diagnosis, the most frequent primary conditions were autoimmune hepatitis and immune thrombocytopenic purpura. Autoimmune hepatitis showed the strongest link with secondary AD development (OR=95.15, 95% CI: 19.07-474.70, p < 0.001). Patients with a positive family history of autoimmune diseases (FHADs) had a significantly higher likelihood of developing secondary autoimmune diseases (OR=5.11, 95% CI: 1.55-16.86, p=0.007). Meanwhile, we have seen that the probability of developing secondary ADs increased over time, reaching 26.6% over 15 years. Conclusion: In this cohort, systemic lupus erythematosus was the most frequent secondary autoimmune disease, while secondary autoimmunity overall was more strongly associated with autoimmune hepatitis and a positive family history.
This study evaluates the alleged relationship between childhood vaccination—specifically the MMR (measles, mumps, rubella) and DPT (diphtheria, pertussis, tetanus) vaccines—and the development of autism spectrum disorders (ASD). It addresses public concerns by reviewing existing literature and highlighting the essential role of vaccines in public health. A comprehensive analysis of scientific studies, including systematic reviews, meta-analyses, and population-based investigations, was conducted, with particular attention to research on temporal associations, thimerosal content, and proposed immunological mechanisms. The findings consistently show no causal link between childhood vaccinations and ASD. Neither the MMR vaccine nor thimerosal-containing vaccines were associated with an increased risk of ASD, as confirmed by large-scale cohort studies and international meta-analyses. Additionally, no evidence supports claims that temporal patterns or atypical forms of ASD are related to vaccination. Overall, the current scientific consensus strongly refutes the notion that vaccines cause autism. The findings support the continuation of current immunization programs, stressing the importance of combating misinformation, reinforcing public trust, and safeguarding community health through sustained vaccination efforts. No changes to existing vaccine protocols are warranted.
Type 1 interferonopathies are rare genetic disorders characterized by abnormal type 1 interferon (IFN) signaling. They cause chronic inflammation and multisystemic symptoms typically present in early childhood. Neurological, dermatological, and musculoskeletal features are common and often resistant to conventional therapies. Mutations in genes involved in nucleic acid sensing, degradation, proteasome function, and IFN signaling lead to the accumulation of self-deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) in the cytoplasm and a sustained type 1 IFN response, causing tissue damage and autoimmunity. This group includes various syndromes, such as Aicardi-Goutières syndrome (AGS), STING-associated vasculopathy (SAVI), and COPA syndrome. Diagnosis involves clinical evaluation, IFN signature analysis, and genetic testing. Treatment aims to modulate the IFN response by using JAK inhibitors, anti-IFN antibodies, and reverse transcriptase inhibitors. However, these therapies are not curative and have limited efficacy. Further research is needed to develop targeted treatments and improve outcomes, and a multidisciplinary management approach is essential because of the complexity and rarity of these disorders.
