8 research outputs found
ΠΠΎΡΠ΅Π»Π°ΡΠΈΡΠ° Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΎΡΠΎ Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π ΡΠΎ Π²ΠΊΡΠΏΠ½ΠΈΠΎΡ ΡΠ΅ΡΡΠΌΡΠΊΠΈ ΠΠ³Π ΠΊΠ°Ρ Π΄Π΅ΡΠ° ΡΠΎ Π°ΡΡΠΌΠ°
Asthma is a chronical disease of the airways characterized by reversible obstruction of the bronchi and airway inflammation. In recent decades, the scientific interest of the vitamin D system and its role in development of asthma and other alergic diseases has been increased.
Aims of this study are to mesure and compare the serum level of 25 OHD in asthmatic and healthy children and corelate the level of 25OHD and total IgE in asthmatic children.
This prospective study includes 70 children at age 2 to 14, of which 32 are children with diagnosed asthma and 38 healthy children. In both of the groups the serum level of 25 OHD was measured and by the results 18 % of the healthy children (C) and 28% of the asthma children (E) had 25OHD deficiency, 45% of C and 50% of E were insufficient and 37 % of C / 22% of E were with normal 25 OHD serum level. The mean level of 25OHD in C was 27,83 +/- 10,24 and in E 20,9 ng/ml +/- 10,72. The mean levels in both groups had statistic significant difference with p-value < 0,05. According to age no statistic significant difference was found in both of the groups. There was a statisticaly significant decreased serum level of 25 OHD in asthmatic females.In the examined group (children with asthma) there was a negative linear correlation (association) of the level of 25OHD and total IgE serum level with r=- 0,55 Vitamin D serum level measurements in asthma patients gives the possibility for discovering the connection between its deficiency and development of asthma symptoms.ΠΡΡΠΌΠ°ΡΠ° Π΅ Ρ
ΡΠΎΠ½ΠΈΡΠ½Π° Π±ΠΎΠ»Π΅ΡΡ Π½Π° Π΄ΠΈΡΠ½ΠΈΡΠ΅ ΠΏΠ°ΡΠΈΡΡΠ° ΠΊΠΎΡΠ° ΡΠ΅ ΠΊΠ°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΠΈΡΠ° ΡΠΎ ΡΠ΅Π²Π΅ΡΠ·ΠΈΠ±ΠΈΠ»Π½Π° Π±ΡΠΎΠ½Ρ
ΠΎΠΎΠΏΡΡΡΡΠΊΡΠΈΡΠ°, ΠΊΠ»Π΅ΡΠΎΡΠ½Π° ΠΈΠ½ΡΠΈΠ»ΡΡΠ°ΡΠΈΡΠ° ΠΈ ΠΈΠ½ΡΠ»Π°ΠΌΠ°ΡΠΈΡΠ° Π½Π° Π΄ΠΈΡΠ½ΠΎΡΠΎ ΡΡΠ΅Π±Π»ΠΎ. ΠΠΎΡΠ»Π΅Π΄Π½ΠΈΡΠ΅ Π½Π΅ΠΊΠΎΠ»ΠΊΡ Π΄Π΅ΡΠ΅Π½ΠΈΠΈ ΡΠ΅ Π±Π΅Π»Π΅ΠΆΠΈ Π·Π³ΠΎΠ»Π΅ΠΌΠ΅Π½ ΠΈΠ½ΡΠ΅ΡΠ΅Ρ Π½Π° ΠΌΠ΅Π΄ΠΈΡΠΈΠ½ΡΠΊΠ°ΡΠ° Π½Π°ΡΠΊΠ° Π·Π° Π·Π½Π°ΡΠ΅ΡΠ΅ΡΠΎ Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ΠΎΡ Π Π²ΠΎ ΡΠ°Π·Π²ΠΎΡΠΎΡ Π½Π° Π°ΡΡΠΌΠ°ΡΠ° ΠΈ Π΄ΡΡΠ³ΠΈΡΠ΅ Π°Π»Π΅ΡΠ³ΠΈΡΠΊΠΈ Π·Π°Π±ΠΎΠ»ΡΠ²Π°ΡΠ°. Π¦Π΅Π»ΠΈ Π½Π° ΠΎΠ²ΠΎΡ ΡΡΡΠ΄ Π±Π΅Π°: ΡΠΏΠΎΡΠ΅Π΄Π±Π° Π½Π° Π²ΡΠ΅Π΄Π½ΠΎΡΡΠ° Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΎΡΠΎ Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π ΠΊΠ°Ρ Π΄Π΅ΡΠ°ΡΠ° ΡΠΎ Π°ΡΡΠΌΠ° ΠΈ Π·Π΄ΡΠ°Π²ΠΈ Π΄Π΅ΡΠ° ΠΈ ΠΎΠ΄ΡΠ΅Π΄ΡΠ²Π°ΡΠ΅ Π½Π° ΠΊΠΎΡΠ΅Π»Π°ΡΠΈΡΠ°ΡΠ° Π½Π° Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π Π²ΠΎ ΡΠ΅ΡΡΠΌ ΡΠΎ Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΎΡΠΎ Π²ΠΊΡΠΏΠ½ΠΎ ΠΠ³Π. ΠΠ°ΡΠ΅ΡΠΈΡΠ°Π» ΠΈ ΠΌΠ΅ΡΠΎΠ΄ΠΈ: ΠΠ²Π°Π° ΠΏΡΠΎΡΠΏΠ΅ΠΊΡΠΈΠ²Π½Π° ΡΡΡΠ΄ΠΈΡΠ° Π²ΠΊΠ»ΡΡΠΈ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π° Π³ΡΡΠΏΠ° ΠΎΠ΄ 32 (23 ΠΌΠ°ΡΠΊΠΈ ΠΈ 9 ΠΆΠ΅Π½ΡΠΊΠΈ) ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈ Π½Π° Π²ΠΎΠ·ΡΠ°ΡΡ ΠΎΠ΄ 2 Π΄ΠΎ 14 Π³ΠΎΠ΄ΠΈΠ½ΠΈ ΠΈ ΠΊΠΎΠ½ΡΡΠΎΠ»Π½Π° Π³ΡΡΠΏΠ° ΠΎΠ΄ 38 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈ (23 ΠΌΠ°ΡΠΊΠΈ ΠΈ 15 ΠΆΠ΅Π½ΡΠΊΠΈ), Π·Π΄ΡΠ°Π²ΠΈ Π΄Π΅ΡΠ° (ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈ Π±Π΅Π· Π°ΡΡΠΌΠ°) Π½Π° ΠΈΡΡΠ° Π²ΠΎΠ·ΡΠ°ΡΡ. ΠΠΎ Π΄Π²Π΅ΡΠ΅ Π³ΡΡΠΏΠΈ Π±Π΅ΡΠ΅ ΠΎΠ΄ΡΠ΅Π΄Π΅Π½ΠΎ Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΈΠΎΡ Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π, Π° ΠΊΠ°Ρ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π°ΡΠ° Π³ΡΡΠΏΠ° ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈΡΠ΅ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΎ ΠΠ³Π. Π Π΅Π·ΡΠ»ΡΠ°ΡΠΈ: ΠΠΎ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π°ΡΠ° Π³ΡΡΠΏΠ° ΡΠΎ Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π ΡΠΎ Π΄Π΅ΡΠΈΡΠΈΡ Π±Π΅Π° 28%, ΠΈΠ½ΡΡΡΠΈΡΠΈΠ΅Π½ΡΠ½ΠΈ 50% ΠΈ ΡΠΎ Π½ΠΎΡΠΌΠ°Π»Π½ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ 22% ΠΎΠ΄ Π΄Π΅ΡΠ°ΡΠ°. 18% ΠΎΠ΄ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈΡΠ΅ Π²ΠΎ ΠΊΠΎΠ½ΡΡΠΎΠ»Π½Π°ΡΠ° Π³ΡΡΠΏΠ° Π±Π΅Π° ΡΠΎ Π΄Π΅ΡΠΈΡΠΈΡΠ½ΠΈ (<20 ng/ml), 45% ΡΠΎ ΠΈΠ½ΡΡΡΠΈΡΠΈΠ΅Π½ΡΠ½ΠΈ (20-30 ng/ml) ΠΈ 37% ΡΠΎ Π½ΠΎΡΠΌΠ°Π»Π½ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ (>30 ng/ml) Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π. Π‘ΡΠ΅Π΄Π½Π°ΡΠ° Π²ΡΠ΅Π΄Π½ΠΎΡΡ Π½Π° Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΈΠΎΡ Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π Π²ΠΎ ΠΊΠΎΠ½ΡΡΠΎΠ»Π½Π°ΡΠ° Π³ΡΡΠΏΠ° ΠΈΠ·Π½Π΅ΡΡΠ²Π°ΡΠ΅ 27,83 ng/ml +/- 10,24, Π° Π²ΠΎ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π°ΡΠ° 20,9 +/- 10,72, ΡΠΎ ΡΡΠ°ΡΠΈΡΡΠΈΡΠΊΠΈ ΡΠΈΠ³Π½ΠΈΡΠΈΠΊΠ°Π½ΡΠ½Π° ΡΠ°Π·Π»ΠΈΠΊΠ° ΠΏΠΎΠΌΠ΅ΡΡ Π΄Π²Π΅ΡΠ΅ Π³ΡΡΠΏΠΈ (p< 0,05). Π‘ΡΠ΅Π΄Π½ΠΈΡΠ΅ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ Π²ΠΎ ΠΏΠΎΠ΄Π³ΡΡΠΏΠΈΡΠ΅ ΠΎΠ΄ Π΄Π²Π΅ΡΠ΅ Π³ΡΡΠΏΠΈ ΡΠΏΠΎΡΠ΅Π΄ Π²ΠΎΠ·ΡΠ°ΡΡ (2-5 Π³ΠΎΠ΄ ΠΈ Π½Π°Π΄ 5 Π³ΠΎΠ΄), Π½Π΅ ΠΏΠΎΠΊΠ°ΠΆΠ°Π° ΡΡΠ°ΡΠΈΡΡΠΈΡΠΊΠΈ ΡΠΈΠ³Π½ΠΈΡΠΈΠΊΠ°Π½ΡΠ½Π° ΡΠ°Π·Π»ΠΈΠΊΠ° Π΄ΠΎΠ΄Π΅ΠΊΠ° ΡΡΠ°ΡΠΈΡΡΠΈΡΠΊΠΈ ΡΠΈΠ³Π½ΠΈΡΠΈΠΊΠ°Π½ΡΠ½ΠΎ Π½Π°ΠΌΠ°Π»Π΅Π½Π° ΡΡΠ΅Π΄Π½Π° Π²ΡΠ΅Π΄Π½ΠΎΡΡ ΡΠ΅ Π΄ΠΎΠ±ΠΈ ΠΊΠ°Ρ ΠΆΠ΅Π½ΡΠΊΠΈΡΠ΅ Π΄Π΅ΡΠ° ΠΎΠ΄ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π°ΡΠ° Π³ΡΡΠΏΠ°. ΠΠΎ ΠΈΡΠΏΠΈΡΡΠ²Π°Π½Π°ΡΠ° Π³ΡΡΠΏΠ° Π΄Π΅ΡΠ° Π±Π΅ΡΠ΅ Π°Π½Π°Π»ΠΈΠ·ΠΈΡΠ°Π½Π° ΠΈ ΠΊΠΎΡΠ΅Π»Π°ΡΠΈΡΠ°ΡΠ° Π½Π° Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΈΡΠ΅ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ Π½Π° 25OHD ΠΈ Π²ΠΊΡΠΏΠ½ΠΈΠΎΡ ΠΠ³Π ΠΊΠ°ΠΊΠΎ Π΅Π΄Π΅Π½ ΠΎΠ΄ Π½Π°ΡΠ²Π°ΠΆΠ½ΠΈΡΠ΅ ΠΏΠ°ΡΠ°ΠΌΠ΅ΡΡΠΈ Π²ΠΎ Π΄ΠΈΡΠ°Π³Π½ΠΎΡΡΠΈΡΠΊΠΈΠΎΡ ΠΏΡΠΎΡΠΎΠΊΠΎΠ» Π·Π° Π°ΡΡΠΌΠ°, ΠΏΡΠΈ ΡΡΠΎ Π±Π΅ΡΠ΅ Π΄ΠΎΠ±ΠΈΠ΅Π½Π° Π½Π΅Π³Π°ΡΠΈΠ²Π½Π° ΠΊΠΎΡΠ΅Π»Π°ΡΠΈΡΠ° Π½Π° ΠΈΡΠΏΠΈΡΡΠ²Π°Π½ΠΈΡΠ΅ ΠΏΠ°ΡΠ°ΠΌΠ΅ΡΡΠΈ (r= -0,55). ΠΠ°ΠΊΠ»ΡΡΠΎΠΊ: Π‘ΠΎ ΠΎΠ΄ΡΠ΅Π΄ΡΠ²Π°ΡΠ΅ΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΎΡΠΎ Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡΠ°ΠΌΠΈΠ½ Π ΠΊΠ°Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΈ ΡΠΎ Π°ΡΡΠΌΠ° ΡΠ΅ ΠΏΠΎΠΊΠ°ΠΆΡΠ²Π° Π΄ΠΈΡΠ΅ΠΊΡΠ½Π°ΡΠ° Π·Π°Π²ΠΈΡΠ½ΠΎΡΡ Π½Π° ΡΠ°Π·Π²ΠΎΡΠΎΡ Π½Π° ΡΠΈΠΌΠΏΡΠΎΠΌΠΈΡΠ΅ Π½Π° Π±ΠΎΠ»Π΅ΡΡΠ° ΠΎΠ΄ ΡΡΠ΅ΠΏΠ΅Π½ΠΎΡ Π½Π° Π½Π΅Π³ΠΎΠ²ΠΈΠΎΡ Π΄Π΅ΡΠΈΡΠΈΡ
Severe Encephalitis in Infant with COVID-19: A Case Report
BACKGROUND: Encephalitis is a serious condition that contains neurological dysfunction cause by inflammation of the brain tissue. Etiological factors for the occurrence of this condition include infectious and non-infectious causes.
CASE REPORT: We are presented 9-month-old infant referred to our clinic in convulsive status, fever, and disturbed consciousness. From anamnestic information, the infant has been febrile for 2 days with profuse vomiting initiating just before admission at the clinic. At the moment of admission in the clinic, the infant looked intoxicated with generalized tonic-clonic seizures, with shortness of breath and fever with a weakened reaction to painful stimuli. It was admitted in the Isolation Unit by the protocol of the clinic. Laboratory investigations were done. Due to the persistence of convulsive status, a computed tomography scan of the brain was performed with the finding of enlargement of the lateral ventricles, with intraventricular masses and pronounced internal hydrocephalus. The results of severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) from the infant were positive as well as the grandmother. The infant was intubated immediately and put on mechanical ventilation SIPPV.
CONCLUSION: Our case report could suggest that SARS-CoV-2 infection may cause severe clinical symptoms, neurological manifestations, and encephalitis in infants
Need for Developmental Assessment
Introduction: When we start our work as medical professionals the most important was improving and understanding physical
growth and nutrition. Today we know that as much important as good knowledge in physical examination is adequate assessment of
personality and social development which is crucial for appropriate developmental assessment. In this context early identification of
developmental delay is not just responsibility but either obligation of all health care professionals, especially pediatricians.
Aim of the Study: The aim of this study is to analyze developmental monitoring based on parents informations in our hospital in
order to find out which percentage of referred children has to be followed further and has to start with early intervention. Our apοΏ½proach to developmental monitoring is: we start the pediatric assessment by taking very careful history of child. Second step is very
careful examination in order to find if the child has same kind of organ dysfunction. In second step crucial is neurological examination
especially if we know that children with developmental disabilities have very high rate of seizure disorder, structural MRI abnormali�ties - especially frontal atrophy⦠Pediatrician has to be aware that observation of the parent-child interaction also, may be an aid in
identifying children with delayed development.
Methodology and Sample: The developmental monitoring in 465 children at the age of 12 - 60 months, referred as children with
developmental delay according to primary care pediatricians, special educators or family members in the period of 4 years (from
January 2016 until the end of 2019) was implemented. The assessment of the evaluated sample is done using CDC developmental
milestone checklist (Centers for Disease Control and Prevention) for specific ages -12 and 18 months and 2,3,4 and 5 years. To assess
behavioral and emotional problems, physicians need information from family and people who see children in their everyday contexts.
Results: The results were presented for each group separately.
Conclusion: Research indicates that the first five years of a childβs life are critical to brain development, academic achievement and
later life outcomes. The right developmental and behavioral assessment can change the trajectory of a childβs life forever
Anxiety, Stress and Coping Patterns in Children in Dental Settings
BACKGROUND: Fear of the dentist and dental treatment is a common problem. It can cause treatment difficulties for the practitioner, as well as severe consequences for the patient. As is known, the level of stress can be evaluated thought electrodermal activity, cortisol measure in saliva, or indirectly by psychometric tests.AIM: The present study examined the psychological influence of dental interventions on the child as well as coping patterns used for stress diminution.METHODS: We examined two matched groups of patients: a) children with orthodontic problems (anomalies in shape, position and function of dentomaxillofacial structures) (N = 31, mean age 10.3 ΓΒ± 2.02) years; and b) children with ordinary dental problems (N = 31, mean age 10.3 ΓΒ± 2.4 years). As psychometric instruments, we used: 45 items SarasonΓ’β¬β’s scale for anxiety, 20 items simple Stress - test adapted for children, as well as A - cope test for evaluation coping patterns.RESULTS: Obtained scores confirmed the presence of moderate anxiety in both groups as well as moderate stress level. For SarasonΓ’β¬β’s test obtained scores for the group with dental problems are 20.63 ΓΒ± 8.37 (from max 45); and for Stress test 7.63 ΓΒ± 3.45 (from max 20); for the orthodontic group obtained scores are 18.66 ΓΒ± 6.85 for SarasonΓ’β¬β’s test, while for the Stress test were 7.76 ΓΒ± 3.78. One way ANOVA confirmed a significant difference in values of obtained scores related to the age and gender. Calculated Student t - test shows non-significant differences in obtained test results for both groups of examinees. Coping mechanisms evaluated by A - cope test shows that in both groups the most important patterns used for stress relief are: developing self-reliance and optimism; avoiding problems and engaging in demanding activity.CONCLUSION: This study confirmed that moderate stress level and anxiety are present in both groups of patients (orthodontic and dental). Obtained scores are depending on gender and age. As more used coping patterns in both groups are developing self-reliance and optimism; avoiding problems and engaging in demanding activity. Some strategies for managing this problem are discussed
OΠ΄Π½ΠΎΡΠΎΡ ΠΏΠΎΠΌΠ΅ΡΡ Π½ΠΈΠ²ΠΎΡΠΎ Π½Π° ΡΠ΅ΡΡΠΌΡΠΊΠΈΠΎΡ ΠΏΡΠΎΠΊΠ°Π»ΡΠΈΡΠΎΠ½ΠΈΠ½ ΠΈ Ρ-ΡΠ΅Π°ΠΊΡΠΈΠ²Π΅Π½ ΠΏΡΠΎΡΠ΅ΠΈΠ½ ΠΊΠ°Ρ Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ ΡΠ΅ΠΏΡΠ° ΠΏΡΠΈ ΡΠ°Π·Π»ΠΈΡΠ½ΠΈ Π²ΠΈΠ΄ΠΎΠ²ΠΈ Π½Π° ΡΠ΅ΡΠΏΠΈΡΠ°ΡΠΎΡΠ½Π° ΠΏΠΎΠ΄Π΄ΡΡΠΊΠ° Π²ΠΎ Π΅Π΄ΠΈΠ½ΠΈΡΠ°ΡΠ° Π·Π° ΠΈΠ½ΡΠ΅Π½Π·ΠΈΠ²Π½Π° Π½Π΅Π³Π° ΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΡΠ°
Sepsis in newborns with RDSy and asphyxia is essential; it is a life-threatening condition and still represents an important cause of mortality and morbidity. The aim of this study was to evaluate the predictive values of procalcitonin (PCT) as an early diagnostic and prognostic biochemical marker for sepsis in newborns with RDS and asphyxia. Material and methods: The study was designed as prospective and we examined 110 newborns with proven sepsis admitted in the Intensive Care Unit at the University Clinic of Pediatrics β Skopje in the period between December 2018 and Πanuary 2021. Procalcitonin levels were measured by using the immunoassay system Vidas based on the ELFA principles. The newborns with proven sepsis were divided into two groups. The first group comprised 55 newborns with RDS and proven sepsis and the second group included 55 newborns with asphyxia and proven sepsis. The statistical analysis confirmed significantly different values ββof PCT in the analyzed time period in first group of newborns with RDS and proven sepsis, p<0.001. The highest average values (40.37Β±53.79) ββwere measured on admission with a high level of peak compared to the second group of newborns with asphyxia and proven sepsis. The statistical analysis confirmed significantly different values ββof PCT in the analyzed time period in the first group of newborns with RDS and proven sepsis with mechanical ventilation (MV) and bubble continuous positive airway pressure (BCPAP) compared to the second group of newborns with asphyxia and proven sepsis, p<0.001. PCT is a promising sepsis marker in newborns with RDSy, capable of complementing clinical signs and routine laboratory parameters suggestive of severe infection at the time of ICU admission.
Π‘Π΅ΠΏΡΠ°ΡΠ° ΠΊΠ°Ρ Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ ΡΠ΅ΡΠΏΠΈΡΠ°ΡΠΎΡΠ΅Π½ Π΄ΠΈΡΡΡΠ΅Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌ (Π ΠΠ‘) ΠΈ Π°ΡΡΠΈΠΊΡΠΈΡΠ° Π΅ ΠΆΠΈΠ²ΠΎΡΠΎΠ·Π°Π³ΡΠΎΠ·ΡΠ²Π°ΡΠΊΠ° ΡΠΎΡΡΠΎΡΠ±Π° ΠΈ ΡΓ¨ ΡΡΡΠ΅ ΠΏΡΠ΅ΡΡΡΠ°Π²ΡΠ²Π° Π²Π°ΠΆΠ½Π° ΠΏΡΠΈΡΠΈΠ½Π° Π·Π° ΠΌΠΎΡΡΠ°Π»ΠΈΡΠ΅Ρ ΠΈ ΠΌΠΎΡΠ±ΠΈΠ΄ΠΈΡΠ΅Ρ. Π¦Π΅Π»ΡΠ° Π½Π° ΠΎΠ²Π°Π° ΡΡΡΠ΄ΠΈΡΠ° Π±Π΅ΡΠ΅ Π΄Π° ΡΠ΅ ΠΏΡΠΎΡΠ΅Π½Π°Ρ ΠΏΡΠ΅Π΄Π²ΠΈΠ΄ΡΠ²Π°ΡΠΊΠΈΡΠ΅ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ Π½Π° ΠΏΡΠΎΠΊΠ°Π»ΡΠΈΡΠΎΠ½ΠΈΠ½ΠΎΡ (ΠΠ¦Π’) ΠΊΠ°ΠΊΠΎ ΡΠ°Π½ Π΄ΠΈΡΠ°Π³Π½ΠΎΡΡΠΈΡΠΊΠΈ ΠΈ ΠΏΡΠΎΠ³Π½ΠΎΡΡΠΈΡΠΊΠΈ Π±ΠΈΠΎΡ
Π΅ΠΌΠΈΡΠΊΠΈ ΠΌΠ°ΡΠΊΠ΅Ρ Π·Π° ΡΠ΅ΠΏΡΠ° ΠΊΠ°Ρ Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π ΠΠ‘ ΠΈ Π°ΡΡΠΈΠΊΡΠΈΡΠ°. Π‘ΡΡΠ΄ΠΈΡΠ°ΡΠ° Π±Π΅ΡΠ΅ Π΄ΠΈΠ·Π°ΡΠ½ΠΈΡΠ°Π½Π° ΠΊΠ°ΠΊΠΎ ΠΏΡΠΎΡΠΏΠ΅ΠΊΡΠΈΠ²Π½Π° ΠΈ ΠΈΡΠΏΠΈΡΠ°Π²ΠΌΠ΅ 110 Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°, Ρ
ΠΎΡΠΏΠΈΡΠ°Π»ΠΈΠ·ΠΈΡΠ°Π½ΠΈ Π²ΠΎ ΠΠ΄ΠΈΠ½ΠΈΡΠ°ΡΠ° Π·Π° ΠΈΠ½ΡΠ΅Π½Π·ΠΈΠ²Π½Π° Π½Π΅Π³Π° ΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΡΠ° (ΠΠΠΠ’), ΠΏΡΠΈ Π£Π½ΠΈΠ²Π΅ΡΠ·ΠΈΡΠ΅ΡΡΠΊΠ°ΡΠ° ΠΊΠ»ΠΈΠ½ΠΈΠΊΠ° Π·Π° Π΄Π΅ΡΡΠΊΠΈ Π±ΠΎΠ»Π΅ΡΡΠΈ - Π‘ΠΊΠΎΠΏΡΠ΅, Π²ΠΎ ΠΏΠ΅ΡΠΈΠΎΠ΄ΠΎΡ ΠΎΠ΄ Π΄Π΅ΠΊΠ΅ΠΌΠ²ΡΠΈ 2018 Π΄ΠΎ ΡΠ°Π½ΡΠ°ΡΠΈ 2021 Π³ΠΎΠ΄ΠΈΠ½Π°. ΠΠΈΠ²ΠΎΡΠΎ Π½Π° ΠΏΡΠΎΠΊΠ°Π»ΡΠΈΡΠΎΠ½ΠΈΠ½ Π±Π΅ΡΠ΅ ΠΌΠ΅ΡΠ΅Π½ΠΎ ΡΠΎ ΠΊΠΎΡΠΈΡΡΠ΅ΡΠ΅ Π½Π° ΠΈΠΌΡΠ½ΠΎΠ°Π½Π°Π»ΠΈΠ·ΠΈΡΠ°ΡΠΊΠΈΠΎΡ ΡΠΈΡΡΠ΅ΠΌ ΠΠΈΠ΄Π°Ρ Π±Π°Π·ΠΈΡΠ°Π½ Π½Π° ΠΠΠ€Π ΠΌΠ΅ΡΠΎΠ΄ΠΎΡ. ΠΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ°ΡΠ° ΡΠΎ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ° Π±Π΅Π° ΠΏΠΎΠ΄Π΅Π»Π΅Π½ΠΈ Π²ΠΎ Π΄Π²Π΅ Π³ΡΡΠΏΠΈ. ΠΠΎ ΠΏΡΠ²Π°ΡΠ° Π³ΡΡΠΏΠ° Π±Π΅Π° Π°Π½Π°Π»ΠΈΠ·ΠΈΡΠ°Π½ΠΈ 55 Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π ΠΠ‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°, Π° Π²ΠΎ Π²ΡΠΎΡΠ°ΡΠ° Π³ΡΡΠΏΠ° 55 Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π°ΡΡΠΈΠΊΡΠΈΡΠ° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°. Π‘ΡΠ°ΡΠΈΡΡΠΈΡΠΊΠ°ΡΠ° Π°Π½Π°Π»ΠΈΠ·Π° ΠΏΠΎΡΠ²ΡΠ΄ΠΈ Π·Π½Π°ΡΠΈΡΠ΅Π»Π½ΠΎ ΡΠ°Π·Π»ΠΈΡΠ½ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ Π½Π° ΠΠ¦Π’ Π²ΠΎ Π°Π½Π°Π»ΠΈΠ·ΠΈΡΠ°Π½ΠΈΠΎΡ ΠΏΠ΅ΡΠΈΠΎΠ΄ Π²ΠΎ ΠΏΡΠ²Π°ΡΠ° Π³ΡΡΠΏΠ° Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π ΠΠ‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°, p<0,001. ΠΠ°ΡΠ²ΠΈΡΠΎΠΊΠΈΡΠ΅ ΠΏΡΠΎΡΠ΅ΡΠ½ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ (40,37Β±53,79) Π±Π΅Π° ΠΈΠ·ΠΌΠ΅ΡΠ΅Π½ΠΈ Π·Π° Π²ΡΠ΅ΠΌΠ΅ Π½Π° ΠΏΡΠΈΠ΅ΠΌΠΎΡ ΡΠΎ Π²ΠΈΡΠΎΠΊ ΠΏΠΈΠΊ Π²ΠΎ ΡΠΏΠΎΡΠ΅Π΄Π±Π° ΡΠΎ Π²ΡΠΎΡΠ°ΡΠ° Π³ΡΡΠΏΠ° Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π°ΡΡΠΈΠΊΡΠΈΡΠ° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°. Π‘ΡΠ°ΡΠΈΡΡΠΈΡΠΊΠ°ΡΠ° Π°Π½Π°Π»ΠΈΠ·Π° ΠΏΠΎΡΠ²ΡΠ΄ΠΈ ΡΠΈΠ³Π½ΠΈΡΠΈΠΊΠ°Π½ΡΠ½ΠΎ ΡΠ°Π·Π»ΠΈΡΠ½ΠΈ Π²ΡΠ΅Π΄Π½ΠΎΡΡΠΈ Π½Π° ΠΠ¦Π’ Π²ΠΎ Π°Π½Π°Π»ΠΈΠ·ΠΈΡΠ°Π½ΠΈΠΎΡ Π²ΡΠ΅ΠΌΠ΅Π½ΡΠΊΠΈ ΠΏΠ΅ΡΠΈΠΎΠ΄ ΠΊΠ°Ρ ΠΏΡΠ²Π°ΡΠ° Π³ΡΡΠΏΠ° Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π ΠΠ‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ° ΡΠΎ ΠΌΠ΅Ρ
Π°Π½ΠΈΡΠΊΠ° Π²Π΅Π½ΡΠΈΠ»Π°ΡΠΈΡΠ° (ΠΠ) ΠΈ bubble ΠΊΠΎΠ½ΡΠΈΠ½ΡΠΈΡΠ°Π½ ΠΏΠΎΠ·ΠΈΡΠΈΠ²Π΅Π½ ΠΏΡΠΈΡΠΈΡΠΎΠΊ Π½Π° Π΄ΠΈΡΠ½ΠΈΡΠ΅ ΠΏΠ°ΡΠΈΡΡΠ° (ΠΠ¦ΠΠΠ), ΡΠΏΠΎΡΠ΅Π΄Π΅Π½ΠΎ ΡΠΎ Π²ΡΠΎΡΠ°ΡΠ° Π³ΡΡΠΏΠ° Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π°ΡΡΠΈΠΊΡΠΈΡΠ° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° ΡΠ΅ΠΏΡΠ°, p<0,001. ΠΠ¦Π’ Π΅ Π²Π΅ΡΡΠ²Π°ΡΠΊΠΈ ΠΌΠ°ΡΠΊΠ΅Ρ Π·Π° ΡΠ΅ΠΏΡΠ° ΠΊΠ°Ρ Π½ΠΎΠ²ΠΎΡΠΎΠ΄Π΅Π½ΡΠΈΡΠ° ΡΠΎ Π ΠΠ‘, ΠΊΠΎΡ ΡΠ° Π½Π°Π΄ΠΎΠΏΠΎΠ»Π½ΡΠ²Π° ΠΊΠ»ΠΈΠ½ΠΈΡΠΊΠ°ΡΠ° ΠΏΡΠ΅Π·Π΅Π½ΡΠ°ΡΠΈΡΠ° ΠΈ ΡΡΡΠΈΠ½ΡΠΊΠΈΡΠ΅ Π»Π°Π±ΠΎΡΠ°ΡΠΎΡΠΈΡΠΊΠΈ ΠΏΠ°ΡΠ°ΠΌΠ΅ΡΡΠΈ ΠΊΠΎΠΈ ΡΠΊΠ°ΠΆΡΠ²Π°Π°Ρ Π½Π° ΡΠ΅ΡΠΊΠ° ΠΈΠ½ΡΠ΅ΠΊΡΠΈΡΠ° Π·Π° Π²ΡΠ΅ΠΌΠ΅ Π½Π° Ρ
ΠΎΡΠΏΠΈΡΠ°Π»ΠΈΠ·Π°ΡΠΈΡΠ°ΡΠ° Π²ΠΎ ΠΠΠΠ’
Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosomal recessive inheritance, and 15.7% of sporadic cases. Twelve families had mutations in the SPAST gene, usually with a pure HSP phenotype. Three sporadic patients had conclusive findings in the SPG11 gene. Two unrelated patients carried a homozygous pathogenic mutation c.233T>A (p.L78*) in SPG7 that is a founder Roma mutation. One patient had a heterozygous de novo variant in the KIF5A gene, and one had a compound heterozygous mutation in the ZYFVE26 gene. The combined genetic yield of our gene panel and CNV analysis for HSP was around 30%. Our findings broaden the knowledge on the genetic epidemiology of HSP, with implications for molecular diagnostics in this region