ABSTRACT
Multisystem Inflammatory Syndrome in Children (MIS-C) is characterized by an inflammation with fever, elevated inflammatory markers, conjunctivitis, rash, impaired coagulation, gastrointestinal symptoms and cardiac abnormalities that may progress to multiorgan failure. The presence of a positive COVID-19 antigen via a PCR test, serological testing for antibodies or close contact with a person diagnosed with COVID-19 helps differentiate MIS-C from other diseases. Gastrointestinal symptoms are recognized to be associated with COVID-19 infection or MIS-C in children, presenting as abdominal pain, gastrointestinal infection with watery stools, appendicitis, ileitis, pancreatitis and hepatitis, confusing the diagnosis with other gastrointestinal diseases. In this case report, we describe an 11 year old boy with MIS-C, who presents acute phlegmona of the appendix for which he undergoes appendectomy, accompanied with acute pancreatitis. These manifestations of MIS-C in our patient resolved without additional complications after a 2 month follow up. We call attention to MIS-C presenting in pediatric patients with fever and abdominal pain which might be caused by appendicitis and pancreatitis, and we recommend abdominal imaging and additional laboratory investigation to promote earlier diagnosis.
Subject(s)
Appendicitis , COVID-19 , Pancreatitis , Acute Disease , Appendicitis/diagnosis , COVID-19/complications , Child , Humans , Male , Pancreatitis/diagnosis , SARS-CoV-2 , Systemic Inflammatory Response SyndromeABSTRACT
BACKGROUND: Adverse reactions to intravenous immunoglobulins (IVIG) are divided by organ system involved, or by timing of onset-immediate which occur during infusion usually rate-related, true IgE-mediated anaphylaxis and delayed reaction which occur hours to days after the infusion. AIM: To describe the adverse events of patients given IVIG infusions. METHODS: Total number of patients receiving IVIG was 41 with 25 males (60.97%) and 16 females (39.02%), age 2 months-35 years. A total number of infusions was 1350. RESULTS: Total number of adverse reactions 15, 14 patients with immediate-type and 1 with delayed type. Total percentage of adverse reactions in a given sample was 1.1% of all IVIG infusions. Fever was the most common immediate type of reaction occurring in 11 patients (78.57%) followed by acrocyanosis 10 patients (71.42%), skin rash 9 patients (64.28%) and headache 8 patients (57.14). Delayed-type of reactions (like fever, headache and vomiting) was present in one patient. Majority of the adverse effects occurred at the infusion rate higher than 1, 5 ml/kg/hour, which is still within recommended speed. CONCLUSION: About 1.1% of IVG infusions where with adverse events. Most common manifestations where: fever, acrocyanosis, skin rash and headache, which occurred 1-6 hours from the beginning of the infusion. The occurrence of adverse reactions to IVIG was related to the infusion rates in a fashion that faster infusion rate gives more reactions. Adverse reactions were managed by reduction of the infusion rate and administration of medications such as paracetamol, antihistamines and steroids.
ABSTRACT
BACKGROUND: Small for gestational age children (SGA) is born on term with BW and or BL of -2.0 standard deviation score (SDS). SGA children have an increased risk of being short, developing DM, and cardiovascular and cerebrovascular disease. Often defects of IGF1R are the cause of SGA. Most frequently affected part of the IGF1R gene is the exon 2. AIM: To investigate whether the exon 2 of the IGF1R gene is affected in the SGA children. PATIENTS AND METHODS: A cohort of 100 SGA children born in term was evaluated for alterations in IG1R gene. Their anthropometric parameters, IGF1 serum concentrations and IGF1 SDS values were analysed. The molecular analysis of IGF1R gene was performed by PCR restriction-site analysis and followed by direct sequencing of conspicuous fragments. RESULTS: Within our cohort, 64 SGA children were with short stature (height SDS -3.25 ± 0.90 SDS), and 36 were with normal height for their age and sex, (H SDS was 0.20 ± 1.1 SDS). None of these children had microcephaly (occipitofrontal circumference -0.70 ± 1.01 SDS vs 0.06 ± 0.56 SDS in SGA children with normal height) or dysmorphic features. The IGF1 serum concentrations and IGF1 SDS values of all children were within normal range. Only one child had lower normal serum IGF1 concentration. No alterations in exon 2 of IGF1R gene were detected. CONCLUSIONS: The genetic analysis of the exon 2 of the IGF1R gene did not detect any gene defects in the analysed patients. The putative genetic defect in those children affects other parts of the IGF1R gene or another gene (s), or yet unidentified factors.
ABSTRACT
BACKGROUND: In the past several decades, the increasing frequency of overweight and obese children and adolescents in the world has become a public health problem. It has contributed significantly to the already high tide of diabetes, cardiovascular and cerebrovascular diseases. AIM: To investigate the frequency of insulin resistance and to evaluate the metabolic profile of insulin resistant and non-insulin resistant obese children and adolescents. SUBJECTS AND METHODS: The study included 96 (45 boys, 51 girls) obese children and adolescents aged 4-17 years old (10.50 ± 2.87 years). Only participants with Body Mass Index ≥ 95 percentile were included. We analysed sera for fasting insulin levels (FI), fasting serum triglycerides (TG), total serum cholesterol (TC), fasting plasma glucose (FPG) and plasma glucose 2 hours after the performance of the oral glucose tolerance test (2-h G). Homeostatic model assessment for insulin resistance (HOMA-IR) index was calculated as fasting insulin concentration (microunits per millilitre) x fasting glucose concentration (millimolar)/22.5. The value of HOMA-IR above 3.16 was used as a cut-off value for both genders. RESULTS: Insulin resistance was determined in 58.33% of study participants. Insulin resistant participants had significantly higher level of 2-h G (p = 0.02), FI level (p = 0.000) as well as TG levels (p = 0.01), compared to non-insulin resistant group. Strikingly, 70.73% of the pubertal adolescents were insulin resistant in comparison to 49.09% of the preadolescents (p = 0.03). Significantly higher percentage of insulin-resistant participants were girls (p = 0.009). Moreover, a higher percentage of the girls (70.59%) than boys (44.44%) had HOMA-IR above 3.16 and had elevated FI levels (70.59% vs 48.89%). The difference in the frequency of insulin resistance among obese versus severely obese children and adolescents was not significant (p = 0.73, p > 0.05). Our study results also showed positive, but weak, correlation of HOMA-IR with age, FPG, TG and BMI of the participants (p < 0.05). CONCLUSION: Higher percentage of insulin-resistant participants was of female gender and was adolescents. In general, insulin resistant obese children and adolescents tend to have a worse metabolic profile in comparison to individuals without insulin resistance. It is of note that the highest insulin resistance was also linked with the highest concentrations of triglycerides.
ABSTRACT
BACKGROUND: Small for gestational age (SGA)-born children are a heterogeneous group with few genetic causes reported. Genetic alterations in the IGF1 receptor (IGF1R) are found in some SGA children. AIM: To investigate whether alterations in IGF1R gene are present in SGA born children. PATIENTS AND METHODS: We analysed 64 children born SGA who stayed short (mean -3.25 ± 0.9 SDS) within the first 4 years of age, and 36 SGA children who caught up growth (0.20 ± 1.1 SDS). PCR products of all coding IGF1R exons were screened by dHPLC followed by direct sequencing of conspicuous fragments to identify small nucleotide variants. The presence of IGF1R gene copy number alterations was determined by Multiplex Ligation-dependent Probe Amplification (MLPA). RESULTS: The cohort of short SGA born children revealed a heterozygous, synonymous variant c.3453C > T in one patient and a novel heterozygous 3 bp in-frame deletion (c.3234_3236delCAT) resulting in one amino acid deletion (p.Ile1078del) in another patient. The first patient had normal serum levels of IGF1. The second patient had unusually low IGF1 serum concentrations (-1.57 SD), which contrasts previously published data where IGF1 levels rarely are found below the age-adjusted mean. CONCLUSIONS: IGF1R gene alterations were present in 2 of 64 short SGA children. The patients did not have any dysmorphic features or developmental delay. It is remarkable that one of them had significantly decreased serum concentrations of IGF1. Growth response to GH treatment in one of the patients was favourable, while the second one discontinued the treatment, but with catch-up growth.
ABSTRACT
Primary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins. The genetic profile and prevalence of XLA have not previously been studied in Eastern and Central European (ECE) countries. We studied the genetic and demographic features of XLA in Belarus, Croatia Hungary, Poland, Republic of Macedonia, Romania, Russia, Serbia, Slovenia, and Ukraine. We collected clinical, immunological, and genetic information for 122 patients from 109 families. The BTK gene was sequenced from the genomic DNA of patients with a high susceptibility to infection, almost no CD19(+) peripheral blood B cells, and low or undetectable levels of serum immunoglobulins M, G, and A, compatible with a clinical and immunological diagnosis of XLA. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17 nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions. The mutations were scattered throughout the BTK gene and most frequently concerned the SH1 domain; no missense mutation was detected in the SH3 domain. The prevalence of XLA in ECE countries (total population 145,530,870) was found to be 1 per 1,399,000 individuals. This report provides the first comprehensive overview of the molecular genetic and demographic features of XLA in Eastern and Central Europe.