Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Introduction: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehensively assess the prevalence, diagnosis, clinical data, immunological parameters, and treatment of NBS patients in Ukraine. Methods: We conducted a retrospective review that included 84 NBS patients from different regions of Ukraine who were diagnosed in 1999-2023. Data from the Ukrainian Registry of NBS and information from treating physicians, obtained using a developed questionnaire, were utilized for analysis. Results: Among 84 NBS patients, 55 (65.5%) were alive, 25 (29.8%) deceased, and 4 were lost to follow-up. The median age of patients was 11 years, ranging from 1 to 34 years. Most patients originate from western regions of Ukraine (57.8%), although in recent years, there has been an increase in diagnoses from central and southeastern regions, expanding our knowledge of NBS prevalence. The number of diagnosed patients per year averaged 3.4 and increased from 2.7 to 4.8 in recent years. The median age of NBS diagnosis was 4.0 years (range 0.1-16) in 1999-2007 and decreased to 2.7 in the past 6 years. Delayed physical development was observed in the majority of children up to the age of ten years. All children experienced infections, and 41.3% of them had recurrent infections. Severe infections were the cause of death in 12%. The second most common clinical manifestation of NBS was malignancies (37.5%), with the prevalence of lymphomas (63.3%). Malignancies have been the most common cause of death in NBS patients (72% of cases). Decreased levels of CD4+ and CD19+ were observed in 89.6%, followed by a reduction of CD3+ (81.8%) and CD8+ (62.5%). The level of NK cells was elevated at 62.5%. IgG concentration was decreased in 72.9%, and IgA - in 56.3%. Immunoglobulin replacement therapy was administered to 58.7% of patients. Regular immunoglobulin replacement therapy has helped reduce the frequency and severity of severe respiratory tract infections. Conclusion: Improvements in diagnosis, including prenatal screening, newborn screening, monitoring, and expanding treatment options, will lead to better outcomes for NBS patients.

The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.

OBJECTIVES: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome. STUDY DESIGN: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected. Five age groups (<1, 1-4, 5-11, 12-16, >16 years) and four geographic macro-areas, Western Europe, Central-Eastern Europe, Latin America, Asian-African resource-limited countries (LRC), were identified. RESULTS: Time to referral was significantly higher in LRC. Intensive anti-inflammatory treatment, including biologics, respiratory support and mechanic ventilation were more frequently used in older children and in European countries. The mortality rate was higher in very young children (<1 year), in older patients (>16 years of age) and in LRC. Multivariate analysis identified the residence in LRC, presence of severe cardiac involvement, renal hypertension, lymphopenia and non-use of heparin prophylaxis, as the factors most strongly associated with unfavorable outcomes. CONCLUSIONS: The stratification of patients by age and geographic macro-area provided insights into the clinical presentation, treatment and outcome of MIS-C. The mortality and sequelae rates exhibited a correlation with the age and geographical areas. Patients admitted and treated in LRC displayed more severe outcomes, possibly due to delays in hospital admission and limited access to biologic drugs and to intensive care facilities.

Coagulation profile in hospitalized children with COVID-19: pediatric age dependency and its impact on long COVID development.

Introduction: Pulmonary endotheliopathy and microvascular immunothrombosis play a key role in acute COVID-19. Moreover, persistent endotheliopathy and heightened coagulability frequently occur in individuals recovering from COVID-19, suggesting the intriguing possibility of their role in the development of long COVID. The aim of our study was to investigate the coagulation profile in patients with COVID-19 based on age and their role in the development of long COVID. Methods: We conducted a prospective single-center cohort study from September 2022 to August 2023. The study involved 190 patients younger than 18 years who were hospitalized at the Ternopil City Children's Hospital, Ukraine due to COVID-19. Patients underwent determination of coagulation profile in addition to the general clinical examination. After discharge from the hospital, patients were monitored for the presence of long COVID symptoms. Among the 157 participants who consented for follow-up, 62 patients (39.5%) had long COVID symptoms according to the WHO definition, while the rest (95 patients) did not have symptoms of long COVID (fully recovered). Results: The study revealed the normal count of platelets in the majority of patients (86.8%), whereas abnormalities in the coagulation profile were revealed in 94.5% of children with COVID-19, and these changes were age-dependent. The patients were mostly presented with increased activated partial thromboplastin time (69.1%), prothrombin time (PT) (39.8%) and D-dimer (45.0%). There was no significant difference between the median of platelet levels and coagulation profile indicators between the groups with long COVID and recovered. Among children who developed persistent long COVID symptoms there was a statistically higher percentage of abnormal PT values (53% versus 36.1%, p=0.0432), with no significant differences in other coagulation profile indicators. Abnormal PT along with female gender, comorbidities, especially allergic pathology, nutritional disorder, including obesity, were determined as potential risk factors of the long COVID development (Odds ratio - 2.0611; 95% 1.0179-4.1737, p=0.0445). Conclusions: The study highlights the need for more extensive research into the coagulation profiles of pediatric populations, considering age-specific factors. This could enhance our understanding of thromboinflammation in COVID-19 and its potential contribution to the development of persistent symptoms.

Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.

Key Clinical Message: Partial leukocyte adhesion deficiency type 1 (LAD-1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice-site ITGB2 variants, partial expression can occur due to different ß2 integrin isophorms expression. Abstract: LAD-1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene that encodes the CD18 ß2 integrin subunit. According to the CD18 expression, LAD-1 is categorized as severe (<2%), moderate (2%-30%), or mild (>30%). Here, we describe a 22-year-old female, who presented with inflammatory skin disease and oral cavity, as well as respiratory tract infections during the first year of life. LAD-1 was diagnosed at the age of 2 years by low expression of CD18 (1%). Whole-exome sequencing identified homozygous c. 59-10C>A variant in the ITGB2 gene. Despite severe phenotype, the patient survived to adulthood without hematopoietic stem cell transplantation and became pregnant at the age of 20 years, with pregnancy complicated by a pyoderma gangrenosum-like lesion. During her life, CD18 expression increased from 1% to 9%; at 22 years of age, 5% of neutrophils and 9% of lymphocytes were CD18+. All CD18+-lymphocytes were predominantly memory/effector cytotoxic T cells. However, revertant mosaicism was not being established suggesting that CD18 expression variability may be mediated by other mechanisms such as different ß2 integrin isophorms expression.

Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection. Primary Epstein-Barr virus infection and a new episode of SARS-CoV-2 infection with COVID pneumonia triggered the development of severe hyperinflammation with signs of hemophagocytic lymphohistiocytosis (HLH): progressive cytopenia (thrombocytopenia, anemia, lymphopenia), hypoproteinemia, hypoalbuminemia, high levels of liver enzymes, hyperferritinemia, increased triglycerides levels; and coagulopathy with a low level of fibrinogen. Treatment with corticosteroids and intravenous immunoglobulins did not lead to a significant improvement. The progression of HLH and COVID-pneumonia resulted in a fatal outcome. The rarity and varied presentation of the HLH symptoms led to diagnostic difficulties and diagnosis delay. HLH should be suspected in a patient with immune dysregulation and impaired viral response. Treatment of infection-HLH is a major challenge due to the difficulties in balancing immunosuppression and management of underlying/triggering infection.

Overlapping clinical features of systemic juvenile idiopathic arthritis and SARS-CoV-2-related multisystem inflammatory syndrome in children.

Introduction: Differential diagnosis of the systemic juvenile idiopathic arthritis (sJIA) is often complicated, because of the variability in clinical presentation and the absence of specific signs. Material and methods: The PubMed/Medline and Scopus databases from the years 2013-2022 were analysed for full articles in English and the following key words were used: "juvenile idiopathic arthritis" and "MIS-C"; "juvenile idiopathic arthritis" and "Kawasaki disease". As an example of the problem the case description of a 3-year-old patient is presented. Results: In the first step 167 publications were identified; however, after exclusion of duplicated articles and those not relevant to the topic, only 13 were included in the analysis. We analysed studies that describe overlapping clinical features of sJIA and Kawasaki disease (KD) or multisystem inflammatory syndrome in children (MIS-C). The main issues we discussed were the search for the specific features that would distinguish one disease from another. Fever refractory to intravenous immunoglobulin treatment was the most frequent indicator among the features of clinical courses. Among other clinical signs prolonged, recurrent fever, rash, an incomplete KD phenotype, Caucasian race, splenomegaly, and complicated macrophage activation syndrome also supported sJIA diagnosis. Among laboratory tests, high ferritin and serum interleukin-18 levels were found to be the most useful in differentiation. The present case demonstrates that prolonged, unexplained, recurrent fever with a specific pattern should be the reason to suspect sJIA. Conclusions: Overlapping features of sJIA and SARS-CoV-2-related MIS-C complicates diagnosis in the era of the COVID-19 pandemic. Our case presentation adds symptoms of prolonged, spiking, unexplained, recurrent fever with a specific pattern for supporting systemic juvenile idiopathic arthritis diagnosis.

Serum Vitamin D Levels in Children and Adolescents with Vasovagal Syncope, Syncope Due to Orthostatic Hypotension, and Cardiac Syncope.

OBJECTIVE: The study aimed to compare vitamin D levels between children and adolescents with vasovagal syncope, syncope due to orthostatic hypotension, cardiac syncope, and healthy individuals and to investigate the correlations of 25(OH)D with main clinical parameters of syncope. MATERIALS AND METHODS: This study involved 83 children aged 8-17 years with syncope: 40 with vasovagal syncope, 24 with syncope due to orthostatic hypotension, and 19 with cardiac syncope. There were 24 healthy volunteers in the control group. Data concerning active standing test, electrocardiography, echocardiography, electroencephalography, and 24-hour Holter monitoring findings were collected. Serum vitamin D was evaluated by an enzyme-linked immunoassay technique test. RESULTS: The mean levels of serum 25(OH)D were decreased in children with vasovagal syncope (18.8 ± 5.9 ng/mL), syncope due to orthostatic hypotension (19.9 ± 6.7 ng/mL), and cardiac syncope (20.6 ± 7.3 ng/mL) in comparing with the control group (30.9 ± 5.9 ng/mL; P < .001). In patients with syncope due to orthostatic hypotension, vitamin D deficiency was associated with a reduction in systolic blood pressure (r = 0.43) and diastolic blood pressure (r = 0.38) within the first minute, lower systolic blood pressure (r = 0.44) within the third minute of active orthostasis (P < .05). There were significant correlations of vitamin D deficiency with parameters of cardiac autonomic activity pNN50 (r = 0.49), total power (r = 0.39), and low frequency index (r = 0.35) in children with cardiac syncope (P < .05), while heart rate variability was not affected in patients with vasovagal syncope and syncope due to orthostatic hypotension (P > .05). CONCLUSION: Children and adolescents with vasovagal syncope, syncope due to orthostatic hypotension, as well as cardiac syncope had higher frequency of vitamin D deficiency than healthy pediatric controls. This provides a new approach to syncope management in pediatric population, requiring further studies.

Autoimmunity and long COVID in children.

Numerous hypotheses regarding the pathogenetic mechanisms of long COVID have been proposed. Immune dysregulation and autoimmunity are among the leading hypotheses. In this article, we present two clinical cases of long COVID. The first case demonstrates the phenotype of long COVID with pain and musculoskeletal symptoms, which is often associated with autoimmunity and mimics systemic connective tissue diseases. In the second case, a high titer of antinuclear antibodies was observed after SARS-CoV-2 infection, but the clinical symptoms were limited to fever and headache. Only a comprehensive evaluation of clinical symptoms and thorough objective examination can confirm or exclude autoimmune diseases after a previous SARS-CoV-2 infection. A systematic search in the PubMed Medline database was carried out for studies focusing on immune dysregulation, autoimmunity, and its association with the clinical phenotype of long COVID. The question of the role of autoimmunity in the development of long COVID and the management approaches are discussed.

Selective immunoglobulin A deficiency in children with diabetes mellitus: Data from a medical center in Ukraine.

The aim of this study was to estimate the prevalence of selective immunoglobulin A deficiency (SIgAD) among children with type 1 diabetes mellitus (DM) in Ternopil region (western Ukraine). Serum IgA levels were measured in 240 patients aged 4-17 years with DM and in 324 children of a control group of the same age. Normal IgA level was observed in 210 (87.5%) patients, increased-in 18 (7.5%), decreased (lower than the age reference value)-in 12 (5.0%) patients with DM. The mean IgA level in patients with DM was 152.11±73.78 mg/dL. SIgAD criteria were met by 7 (2.9%) children with DM, but none of the children of the control group met the SIgAD criteria. Female / male ratio among the patients with SIgAD was 1/6. There was no history of recurrent infections in these patients. No correlation between IgA and HbA1c levels was detected. Autoimmune thyroiditis was observed in 42.9% of patients with DM and SIgAD, and in 3.5% of patients with DM and normal or increased IgA levels. Thus, the prevalence of selective IgA deficiency in children with DM in Ternopil region (Ukraine) is 2.9% (1:34). This study shows that patients with low IgA levels need further re-examination of IgA levels to exclude SIgAD. Children with SIgAD and DM should be monitored for autoimmune manifestations that may affect the course and consequences of the disease.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Importance: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. Objective: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. Design, Setting, and Participants: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. Exposures: Genetic test results. Main Outcomes and Measures: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. Results: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). Conclusions and Relevance: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

Clinical and autoantibody phenotypes of juvenile dermatomyositis.

Juvenile dermatomyositis (JDM) is a heterogeneous autoimmune inflammatory myositis with symmetrical proximal muscle weakness and a characteristic rash. Juvenile dermatomyositis is characterized by variable presentation and phenotypes. Detection of myositis autoantibodies is useful in improving JDM diagnosis and predicting the prognosis. In this literature review based on case series we analyze clinical and autoantibody phenotypes of JDM in four patients who were hospitalized in one regional center in Ukraine during the last 3 years and three of them presented in the time of the COVID-19 pandemic. The reviewed literature showed the last updates for the JDM diagnosis and the role of myositis autoantibodies in the prediction of disease course, systemic involvement, and malignancy risk. The presence of anti-synthetase syndrome in all presented patients, mainly due to anti-PL-7 autoantibodies, encourages further study with more patients and with detection of other myositis-specific autoantibodies to identify or refute certain regional features.

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T- and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival. In Ukraine, the expansion of hemostatic stem cell transplantation and the development of a registry of bone marrow donors in the last few years have created opportunities for early correction of IEI and improving the quality and life expectancy of children with SCID. For the first time in Ukraine, we initiated a pilot study on newborn screening for severe combined immunodeficiency and T-cell lymphopenia by determining T cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). The analysis of TREC and KREC was performed by real-time polymerase chain reaction (RT-PCR) followed by analysis of melting curves in neonatal dry blood spots (DBS). The DBS samples were collected between May 2020 and January 2022. In total, 10,350 newborns were screened. Sixty-five blood DNA samples were used for control: 25 from patients with ataxia-telangiectasia, 37 - from patients with Nijmegen breakage syndrome, 1 - with X-linked agammaglobulinemia, 2 - with SCID (JAK3 deficiency and DCLRE1C deficiency). Retest from the first DBS was provided in 5.8% of patients. New sample test was needed in 73 (0.7%) of newborns. Referral to confirm or rule out the diagnosis was used in 3 cases, including one urgent abnormal value. CID (TlowB+NK+) was confirmed in a patient with the urgent abnormal value. The results of a pilot study in Ukraine are compared to other studies (the referral rate 1: 3,450). Approbation of the method on DNA samples of children with ataxia-telangiectasia and Nijmegen syndrome showed a high sensitivity of TRECs (a total of 95.2% with cut-off 2000 copies per 106 cells) for the detection of these diseases. Thus, the tested method has shown its effectiveness for the detection of T- and B-lymphopenia and can be used for implementation of newborn screening for SCID in Ukraine.

Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy. We report here an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion mutation in SRP54, who showed remarkable therapeutic response to G-CSF treatment. The diagnosis of cyclic pattern of neutropenia was established by acceptable standards. ELANE gene mutation was excluded by using various genetic approaches. The patient described here also had dolichocolon which has not been described before in association with SCN.

Serum pyridoxine, folate, cobalamin, and homocysteine levels in children presenting with vasovagal syncope.

BACKGROUND: Recent studies confirm the role of B vitamins deficiency and hyperhomocysteinaemia in the development of dysautonomia that has been considered to be the main factor in vasovagal syncope development. The aim of the study was to investigate serum pyridoxine, folate, cobalamin, and homocysteine levels in children presenting with vasovagal syncope and to analyse the correlation between them and main clinical parameters of syncope. METHODS: We studied 40 children, ages 8-17 years with a history of vasovagal syncope and 24 healthy volunteers. The serum pyridoxine, folate, cobalamin, and homocysteine levels were measured by a quantitative sandwich enzyme immunoassay technique using a commercial kit (Monobind, USA). Twenty-four-hour Holter monitoring and 24-hour ambulatory blood pressure monitoring were conducted for all participated patients. RESULTS: Serum pyridoxine (9.42 ± 4.87, 16.11 ± 5.53 µg/L) and cobalamin (307.48 ± 95.50, 447.28 ± 108.85 ng/L) levels were reasonably low (p < 0.05) in patients with vasovagal syncope. Although there was no significant change in folate levels between syncope and healthy children (4.00 ± 1.34, 4.71 ± 1.73 µg/L; p = 0.20), we detected low folate-level association with longer duration of syncope (r = -0.42) and post syncope (r = -0.43) symptoms (p < 0.05). Finally, there was increased serum homocysteine level (13.55 ± 5.03, 7.81 ± 1.71 µmol/L; p < 0.05) in patients with vasovagal syncope. It was positively correlated with the average PQ interval (r = 0.35, p < 0.05) and average QTc interval (r = 0.49, p < 0.05). CONCLUSIONS: The results suggested that pyridoxine, folate, cobalamin, and homocysteine may be involved in the pathogenesis of vasovagal syncope. This might provide a new approach for effective treatment of paediatric vasovagal syncope, requiring further study.

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.

Introduction: The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI. Results: In this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients' data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174). Conclusions: 1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.

Diagnosis and management of pharyngitis in children: a survey study in Ukraine.

INTRODUCTION: The purpose of our study was to evaluate the knowledge of pediatricians in diagnosis and management of sore throat in children and to identify further ways to raise their awareness. METHODS: We conducted a survey among pediatricians on evaluation of diagnosis and management of pharyngitis in children. The study involved pediatricians of Ternopil region, Ukraine. Overall, 112 pediatricians participated in the study. Among the participants 79 (70.5%) were primary care physicians and 33 (29.5%) worked in the secondary and tertiary care hospitals. RESULTS: Overall, 70.5% of pediatricians prescribed a throat swab for patients with pharyngitis in selected cases. However, they rarely (20 %) used Centor or McIsaak criteria to choose management strategy of sore throat. Amoxicillin as a first-line antibiotic for streptococcal pharyngitis was chosen by 66.1% of respondents and primary care pediatricians prescribed it more often than pediatricians in hospitals (p<0.001), but antibiotic therapy was prescribed for 10 days only by 52.7% of respondents. Less than half of the correct answers were to the questions related to prescription of antibacterial therapy in healthy children, in which GAS is detected in throat swab (39.3%) and in cases of positive antistreptolysin O (ASL-O - 25.9%). CONCLUSIONS: The study showed a wide range of knowledge of pediatricians about the diagnosis and management of GAS pharyngitis - from satisfactory responses concerning prescription of antibiotic therapy to low level of knowledge about the diagnosis and determination of strategies in healthy carriers. These data emphasize the need to improve knowledge about the strategies of GAS pharyngitis control.