Rare Clinical Case of Cryopyrin-associated Periodic Syndrome Presented with Ankylosing Spondylitis: A Case Report.

BACKGROUND: Cryopyrin-Associated Periodic Syndrome (CAPS) is a variety of clinical variants of autoinflammatory diseases. The pathology is based on a mutation in the NLRP3 gene encoding the cryopyrin protein, which leads to the uncontrolled production of interleukin-1ß. Particular attention should be paid to the rarity of this disease and the lack of clinical knowledge about it in therapeutic and rheumatological practice, which leads to an erroneous diagnosis and the appointment of ineffective treatment for a long time, leading to the progression of the disease and disability of the patient. CASE PRESENTATION: This article describes a clinical case of this disease. The first manifestations of the disease in a woman appeared from the age of 2 years, in the form of a rash and fever. Since school age, there have been signs of arthritis. By the age of 24, sensorineural hearing loss and pain in the spine were evident. The disease occurred under the clinical manifestations of spondyloarthritis. Its treatment with anti-inflammatory therapy did not give a stable result. CONCLUSION: From the analysis, we can conclude that patient M. from early childhood suffers from a severe Neonatal-onset Multisystem Inflammatory Disease of a genetic nature. For a long time, the patient was diagnosed with ankylosing spondylitis, and appropriate treatment was carried out without significant success. The correct diagnosis of CAPS was made only in 2018. This patient has conditions of both CAPS and AS together, which is a very rare association in rheumatological practice. The only treatment method that could stop the manifestations of the disease and prevent life-threatening kidney damage (amyloidosis) is the use of genetically engineered biological drugs, i.e., IL-1ß inhibitors. The only drug of this group registered in Russia is canakinumab (Ilaris®). From the moment of diagnosis to the present day, the patient is treated with the genetically engineered drug canakinumab (Ilaris®) at a dose of 150 mg once every 8 weeks. 6 months after taking the drug, the patient went into complete clinical and laboratory remission.

The prevalence, burden and risk factors associated with bronchial asthma in commonwealth of independent states countries (Ukraine, Kazakhstan and Azerbaijan): results of the CORE study.

BACKGROUND: In the Commonwealth of Independent States (CIS) countries epidemiology of Bronchial Asthma (BA) is poorly characterized. The objective of this analysis is to present the prevalence, burden and risk factors associated with BA in the CIS countries as part of the CORE study (Chronic Obstructive REspiratory diseases). METHODS: A total of 2842 adults (≥18 years) were recruited (964 in Kiev, Ukraine, 945 in Almaty, Kazakhstan, and 933 in Baku, Azerbaijan) in 2013-2015 during household visits. A two-step cluster random sampling strategy was used. All respondents were interviewed about respiratory symptoms, smoking, medical history. Two definitions were used: (i) "doctor diagnosed asthma" when the respondent reported that he/she had ever been diagnosed with BA by a doctor, (ii) "wheezing symptoms" (when the respondent reported wheezing at the ATS Respiratory Symptoms Questionnaire during the study) using GINA (2012) recommendations. Chi-square tests were used to assess differences in proportions. Binary logistic regression was used to estimate odds ratios (OR) and 95% CI for association between risk factors and BA. RESULTS: Prevalence of "doctor diagnosed asthma" was 12.5, 19.0 and 26.8 per 1000 persons, and prevalence of "wheezing symptoms" was 74.4, 254.8 and 123.4 per 1000 in Ukraine, Kazakhstan, and Azerbaijan, respectively. Statistically significant relationship with "wheezing symptoms" was shown for smoking (OR 1.99 (CI 1.22-3.27) in Ukraine, 2.08 (CI 1.54-2.81) in Kazakhstan, 8.01 (CI 5.24-12.24) in Azerbaijan); overweight/obesity (OR: 1.66 (CI 1.02-2.72); 1.94 (CI 1.44-2.62); 1.77 (CI 1.18-2.68), respectively) and dusty work (OR: 3.29 (CI 1.57-6.89); 1.68 (CI 1.18-2.39); 2.36 (CI 1.56-3.59), respectively), and for tuberculosis in Azerbaijan (OR: 10.11 (CI 3.44-29.69)). Co-morbidities like hypertension, cardiovascular diseases, abnormal blood lipids and a history of pneumonia occurred significantly (p < 0.05) more frequently in respondents with BA compared to those without BA across all participating countries. CONCLUSION: In CIS countries (Ukraine, Kazakhstan and Azerbaijan) the prevalence of doctor diagnosed asthma was significantly lower compared to prevalence of wheezing symptoms underlining that BA is likely to be underreported in these countries. The information provided in this paper will be helpful for healthcare policy makers in CIS countries to instruct BA management strategies and to allocate healthcare resources accordingly.

Functional maturity of brain structures in children aged 7-8 with differing levels of speech development.

First graders (aged 7-8) in a public elementary school served as subjects for this study. The structural components of their speech were analyzed to determine speech maturity level; total EEG activity was analyzed to assess the functional maturity of brain structures. Results showed that children with levels of speech below the age norm exhibited abnormal EEG patterns suggesting immaturity of the cerebral cortex and fronto-thalamic regulatory system, as well as impairments in the functioning of the mesodiencephalic structures and nonspecific activation systems. Abnormalities in the functioning of brain regulatory systems and the presence of local abnormalities in EEG activity of deep origin are important factors in determining the severity of functional speech impairments.

Functional maturity of brain structures in children aged 7-8 with differing levels of speech development

First graders (aged 7-8) in a public elementary school served as subjects for this study. The structural components of their speech were analyzed to determine speech maturity level; total EEG activity was analyzed to assess the functional maturity of brain structures. Results showed that children with levels of speech below the age norm exhibited abnormal EEG patterns suggesting immaturity of the cerebral cortex and fronto-thalamic regulatory system, as well as impairments in the functioning of the mesodiencephalic structures and nonspecific activation systems. Abnormalities in the functioning of brain regulatory systems and the presence of local abnormalities in EEG activity of deep origin are important factors in determining the severity of functional speech impairments (AU)

En el presente estudio participaron alumnos de primer grado de una escuela pública (7-8 años). Fueron analizados los componentes estructurales de su habla para determinar el nivel de madurez de la misma; se analizó la actividad total EEG para evaluar la madurez funcional de las estructuras cerebrales. Los resultados mostraron que niños con niveles de habla por debajo de la norma, presentaban patrones anómalos de EEG sugiriendo inmadurez en el cortex cerebral y en el sistema de reguladores frontotalámicos, así como mejora en el funcionamiento de las estructuras mesodiencefálicas y sistemas de activación no específicos. Las anomalías en el funcionamiento de los sistemas reguladores del cerebro y la presencia de anomalías locales en la actividad EEG de origen más profundo son factores importantes a la hora de determinar la severidad del deterioro en el habla (AU)