8 research outputs found

    Pediatric Cardiomyopathies

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    ΠšΠΎΡ€Π΅Π»Π°Ρ†ΠΈΡ˜Π° Π½Π° сСрумското Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” со Π²ΠΊΡƒΠΏΠ½ΠΈΠΎΡ‚ сСрумски Π˜Π³Π• кај Π΄Π΅Ρ†Π° со астма

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    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.Астмата Π΅ Ρ…Ρ€ΠΎΠ½ΠΈΡ‡Π½Π° болСст Π½Π° Π΄ΠΈΡˆΠ½ΠΈΡ‚Π΅ ΠΏΠ°Ρ‚ΠΈΡˆΡ‚Π° која сС ΠΊΠ°Ρ€Π°ΠΊΡ‚Π΅Ρ€ΠΈΠ·ΠΈΡ€Π° со Ρ€Π΅Π²Π΅Ρ€Π·ΠΈΠ±ΠΈΠ»Π½Π° Π±Ρ€ΠΎΠ½Ρ…ΠΎΠΎΠΏΡΡ‚Ρ€ΡƒΠΊΡ†ΠΈΡ˜Π°, ΠΊΠ»Π΅Ρ‚ΠΎΡ‡Π½Π° ΠΈΠ½Ρ„ΠΈΠ»Ρ‚Ρ€Π°Ρ†ΠΈΡ˜Π° ΠΈ ΠΈΠ½Ρ„Π»Π°ΠΌΠ°Ρ†ΠΈΡ˜Π° Π½Π° Π΄ΠΈΡˆΠ½ΠΎΡ‚ΠΎ стСбло. ΠŸΠΎΡΠ»Π΅Π΄Π½ΠΈΡ‚Π΅ Π½Π΅ΠΊΠΎΠ»ΠΊΡƒ Π΄Π΅Ρ†Π΅Π½ΠΈΠΈ сС Π±Π΅Π»Π΅ΠΆΠΈ Π·Π³ΠΎΠ»Π΅ΠΌΠ΅Π½ интСрСс Π½Π° мСдицинската Π½Π°ΡƒΠΊΠ° Π·Π° Π·Π½Π°Ρ‡Π΅ΡšΠ΅Ρ‚ΠΎ Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ΠΎΡ‚ Π” Π²ΠΎ Ρ€Π°Π·Π²ΠΎΡ˜ΠΎΡ‚ Π½Π° астмата ΠΈ Π΄Ρ€ΡƒΠ³ΠΈΡ‚Π΅ алСргиски Π·Π°Π±ΠΎΠ»ΡƒΠ²Π°ΡšΠ°. Π¦Π΅Π»ΠΈ Π½Π° овој Ρ‚Ρ€ΡƒΠ΄ Π±Π΅Π°: спорСдба Π½Π° врСдноста Π½Π° сСрумското Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” кај Π΄Π΅Ρ†Π°Ρ‚Π° со астма ΠΈ Π·Π΄Ρ€Π°Π²ΠΈ Π΄Π΅Ρ†Π° ΠΈ ΠΎΠ΄Ρ€Π΅Π΄ΡƒΠ²Π°ΡšΠ΅ Π½Π° ΠΊΠΎΡ€Π΅Π»Π°Ρ†ΠΈΡ˜Π°Ρ‚Π° Π½Π° Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” Π²ΠΎ сСрум со Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° сСрумското Π²ΠΊΡƒΠΏΠ½ΠΎ Π˜Π³Π•. ΠœΠ°Ρ‚Π΅Ρ€ΠΈΡ˜Π°Π» ΠΈ ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈ: Оваа проспСктивна ΡΡ‚ΡƒΠ΄ΠΈΡ˜Π° Π²ΠΊΠ»ΡƒΡ‡ΠΈ испитувана Π³Ρ€ΡƒΠΏΠ° ΠΎΠ΄ 32 (23 машки ΠΈ 9 ТСнски) ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈ Π½Π° возраст ΠΎΠ΄ 2 Π΄ΠΎ 14 Π³ΠΎΠ΄ΠΈΠ½ΠΈ ΠΈ ΠΊΠΎΠ½Ρ‚Ρ€ΠΎΠ»Π½Π° Π³Ρ€ΡƒΠΏΠ° ΠΎΠ΄ 38 ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈ (23 машки ΠΈ 15 ТСнски), Π·Π΄Ρ€Π°Π²ΠΈ Π΄Π΅Ρ†Π° (ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈ Π±Π΅Π· астма) Π½Π° иста возраст. Π’ΠΎ Π΄Π²Π΅Ρ‚Π΅ Π³Ρ€ΡƒΠΏΠΈ бСшС ΠΎΠ΄Ρ€Π΅Π΄Π΅Π½ΠΎ Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° сСрумскиот Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π”, Π° кај испитуваната Π³Ρ€ΡƒΠΏΠ° ΠΈ врСдноститС Π½Π° сСрумско Π˜Π³Π•. Π Π΅Π·ΡƒΠ»Ρ‚Π°Ρ‚ΠΈ: Π’ΠΎ испитуваната Π³Ρ€ΡƒΠΏΠ° со Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” со Π΄Π΅Ρ„ΠΈΡ†ΠΈΡ‚ Π±Π΅Π° 28%, инсуфициСнтни 50% ΠΈ со Π½ΠΎΡ€ΠΌΠ°Π»Π½ΠΈ врСдности 22% ΠΎΠ΄ Π΄Π΅Ρ†Π°Ρ‚Π°. 18% ΠΎΠ΄ ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈΡ‚Π΅ Π²ΠΎ ΠΊΠΎΠ½Ρ‚Ρ€ΠΎΠ»Π½Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π±Π΅Π° со Π΄Π΅Ρ„ΠΈΡ†ΠΈΡ‚Π½ΠΈ (<20 ng/ml), 45% со инсуфициСнтни (20-30 ng/ml) ΠΈ 37% со Π½ΠΎΡ€ΠΌΠ°Π»Π½ΠΈ врСдности (>30 ng/ml) Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π”. Π‘Ρ€Π΅Π΄Π½Π°Ρ‚Π° врСдност Π½Π° Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° сСрумскиот Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” Π²ΠΎ ΠΊΠΎΠ½Ρ‚Ρ€ΠΎΠ»Π½Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° ΠΈΠ·Π½Π΅ΡΡƒΠ²Π°ΡˆΠ΅ 27,83 ng/ml +/- 10,24, Π° Π²ΠΎ испитуваната 20,9 +/- 10,72, со статистички сигнификантна Ρ€Π°Π·Π»ΠΈΠΊΠ° ΠΏΠΎΠΌΠ΅Ρ“Ρƒ Π΄Π²Π΅Ρ‚Π΅ Π³Ρ€ΡƒΠΏΠΈ  (p< 0,05). Π‘Ρ€Π΅Π΄Π½ΠΈΡ‚Π΅ врСдности Π²ΠΎ ΠΏΠΎΠ΄Π³Ρ€ΡƒΠΏΠΈΡ‚Π΅ ΠΎΠ΄ Π΄Π²Π΅Ρ‚Π΅ Π³Ρ€ΡƒΠΏΠΈ спорСд возраст (2-5 Π³ΠΎΠ΄ ΠΈ Π½Π°Π΄ 5 Π³ΠΎΠ΄), Π½Π΅ ΠΏΠΎΠΊΠ°ΠΆΠ°Π° статистички сигнификантна Ρ€Π°Π·Π»ΠΈΠΊΠ° Π΄ΠΎΠ΄Π΅ΠΊΠ° статистички сигнификантно Π½Π°ΠΌΠ°Π»Π΅Π½Π° срСдна врСдност сС Π΄ΠΎΠ±ΠΈ кај ТСнскитС Π΄Π΅Ρ†Π° ΠΎΠ΄ испитуваната Π³Ρ€ΡƒΠΏΠ°. Π’ΠΎ испитуваната Π³Ρ€ΡƒΠΏΠ° Π΄Π΅Ρ†Π° бСшС Π°Π½Π°Π»ΠΈΠ·ΠΈΡ€Π°Π½Π° ΠΈ ΠΊΠΎΡ€Π΅Π»Π°Ρ†ΠΈΡ˜Π°Ρ‚Π° Π½Π° Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° сСрумскитС врСдности Π½Π° 25OHD ΠΈ Π²ΠΊΡƒΠΏΠ½ΠΈΠΎΡ‚ Π˜Π³Π• ΠΊΠ°ΠΊΠΎ Π΅Π΄Π΅Π½ ΠΎΠ΄ Π½Π°Ρ˜Π²Π°ΠΆΠ½ΠΈΡ‚Π΅ ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€ΠΈ Π²ΠΎ Π΄ΠΈΡ˜Π°Π³Π½ΠΎΡΡ‚ΠΈΡ‡ΠΊΠΈΠΎΡ‚ ΠΏΡ€ΠΎΡ‚ΠΎΠΊΠΎΠ» Π·Π° астма, ΠΏΡ€ΠΈ ΡˆΡ‚ΠΎ бСшС Π΄ΠΎΠ±ΠΈΠ΅Π½Π° Π½Π΅Π³Π°Ρ‚ΠΈΠ²Π½Π° ΠΊΠΎΡ€Π΅Π»Π°Ρ†ΠΈΡ˜Π° Π½Π° испитуванитС ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€ΠΈ (r= -0,55). Π—Π°ΠΊΠ»ΡƒΡ‡ΠΎΠΊ: Π‘ΠΎ ΠΎΠ΄Ρ€Π΅Π΄ΡƒΠ²Π°ΡšΠ΅Ρ‚ΠΎ Π½Π° сСрумското Π½ΠΈΠ²ΠΎ Π½Π° Π²ΠΈΡ‚Π°ΠΌΠΈΠ½ Π” кај ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈ со астма сС ΠΏΠΎΠΊΠ°ΠΆΡƒΠ²Π° Π΄ΠΈΡ€Π΅ΠΊΡ‚Π½Π°Ρ‚Π° зависност Π½Π° Ρ€Π°Π·Π²ΠΎΡ˜ΠΎΡ‚ Π½Π° симптомитС Π½Π° болСста ΠΎΠ΄ стСпСнот Π½Π° Π½Π΅Π³ΠΎΠ²ΠΈΠΎΡ‚ Π΄Π΅Ρ„ΠΈΡ†ΠΈΡ‚

    Severe Encephalitis in Infant with COVID-19: A Case Report

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    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

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    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 abnormaliοΏ½ties - 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 child’s life are critical to brain development, academic achievement and later life outcomes. The right developmental and behavioral assessment can change the trajectory of a child’s life forever

    Anxiety, Stress and Coping Patterns in Children in Dental Settings

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    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 ± 2.02) years; and b) children with ordinary dental problems (N = 31, mean age 10.3 ± 2.4 years). As psychometric instruments, we used: 45 items SarasonÒ€ℒs 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 SarasonÒ€ℒs test obtained scores for the group with dental problems are 20.63 ± 8.37 (from max 45); and for Stress test 7.63 ± 3.45 (from max 20); for the orthodontic group obtained scores are 18.66 ± 6.85 for SarasonÒ€ℒs test, while for the Stress test were 7.76 ± 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

    A Twenty Month-Old Boy With Russell-Silver Syndrome (RS Sy)

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    Oдносот ΠΏΠΎΠΌΠ΅Ρ“Ρƒ Π½ΠΈΠ²ΠΎΡ‚ΠΎ Π½Π° сСрумскиот ΠΏΡ€ΠΎΠΊΠ°Π»Ρ†ΠΈΡ‚ΠΎΠ½ΠΈΠ½ ΠΈ Ρ†-Ρ€Π΅Π°ΠΊΡ‚ΠΈΠ²Π΅Π½ ΠΏΡ€ΠΎΡ‚Π΅ΠΈΠ½ кај Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со сСпса ΠΏΡ€ΠΈ Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈ Π²ΠΈΠ΄ΠΎΠ²ΠΈ Π½Π° рСспираторна ΠΏΠΎΠ΄Π΄Ρ€ΡˆΠΊΠ° Π²ΠΎ Π΅Π΄ΠΈΠ½ΠΈΡ†Π°Ρ‚Π° Π·Π° ΠΈΠ½Ρ‚Π΅Π½Π·ΠΈΠ²Π½Π° Π½Π΅Π³Π° ΠΈ Ρ‚Π΅Ρ€Π°ΠΏΠΈΡ˜Π°

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    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 – Skopje in the period between December 2018 and Јanuary 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 ​​of 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) ​​were 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 ​​of 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‘Спсата кај Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со рСспираторСн дистрСс синдром (Π Π”Π‘) ΠΈ Π°ΡΡ„ΠΈΠΊΡΠΈΡ˜Π° Π΅ ΠΆΠΈΠ²ΠΎΡ‚ΠΎΠ·Π°Π³Ρ€ΠΎΠ·ΡƒΠ²Π°Ρ‡ΠΊΠ° ΡΠΎΡΡ‚ΠΎΡ˜Π±Π° ΠΈ сè ΡƒΡˆΡ‚Π΅ прСтставува Π²Π°ΠΆΠ½Π° ΠΏΡ€ΠΈΡ‡ΠΈΠ½Π° Π·Π° ΠΌΠΎΡ€Ρ‚Π°Π»ΠΈΡ‚Π΅Ρ‚ ΠΈ ΠΌΠΎΡ€Π±ΠΈΠ΄ΠΈΡ‚Π΅Ρ‚. Π¦Π΅Π»Ρ‚Π° Π½Π° ΠΎΠ²Π°Π° ΡΡ‚ΡƒΠ΄ΠΈΡ˜Π° бСшС Π΄Π° сС ΠΏΡ€ΠΎΡ†Π΅Π½Π°Ρ‚ ΠΏΡ€Π΅Π΄Π²ΠΈΠ΄ΡƒΠ²Π°Ρ‡ΠΊΠΈΡ‚Π΅ врСдности Π½Π° ΠΏΡ€ΠΎΠΊΠ°Π»Ρ†ΠΈΡ‚ΠΎΠ½ΠΈΠ½ΠΎΡ‚ (ПЦВ) ΠΊΠ°ΠΊΠΎ Ρ€Π°Π½ Π΄ΠΈΡ˜Π°Π³Π½ΠΎΡΡ‚ΠΈΡ‡ΠΊΠΈ ΠΈ прогностички биохСмиски ΠΌΠ°Ρ€ΠΊΠ΅Ρ€ Π·Π° сСпса кај Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π Π”Π‘ ΠΈ Π°ΡΡ„ΠΈΠΊΡΠΈΡ˜Π°. Π‘Ρ‚ΡƒΠ΄ΠΈΡ˜Π°Ρ‚Π° бСшС Π΄ΠΈΠ·Π°Ρ˜Π½ΠΈΡ€Π°Π½Π° ΠΊΠ°ΠΊΠΎ проспСктивна ΠΈ испитавмС 110 Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса, хоспитализирани Π²ΠΎ Π•Π΄ΠΈΠ½ΠΈΡ†Π°Ρ‚Π° Π·Π° ΠΈΠ½Ρ‚Π΅Π½Π·ΠΈΠ²Π½Π° Π½Π΅Π³Π° ΠΈ Ρ‚Π΅Ρ€Π°ΠΏΠΈΡ˜Π° (Π•Π˜ΠΠ’), ΠΏΡ€ΠΈ УнивСрзитСтската ΠΊΠ»ΠΈΠ½ΠΈΠΊΠ° Π·Π° дСтски болСсти - БкопјС, Π²ΠΎ ΠΏΠ΅Ρ€ΠΈΠΎΠ΄ΠΎΡ‚ ΠΎΠ΄ Π΄Π΅ΠΊΠ΅ΠΌΠ²Ρ€ΠΈ 2018 Π΄ΠΎ Ρ˜Π°Π½ΡƒΠ°Ρ€ΠΈ 2021 Π³ΠΎΠ΄ΠΈΠ½Π°. Нивото Π½Π° ΠΏΡ€ΠΎΠΊΠ°Π»Ρ†ΠΈΡ‚ΠΎΠ½ΠΈΠ½ бСшС ΠΌΠ΅Ρ€Π΅Π½ΠΎ со ΠΊΠΎΡ€ΠΈΡΡ‚Π΅ΡšΠ΅ Π½Π° ΠΈΠΌΡƒΠ½ΠΎΠ°Π½Π°Π»ΠΈΠ·ΠΈΡ€Π°Ρ‡ΠΊΠΈΠΎΡ‚ систСм Видас Π±Π°Π·ΠΈΡ€Π°Π½ Π½Π° ЕЛЀА ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΎΡ‚. ΠΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ°Ρ‚Π° со Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса Π±Π΅Π° ΠΏΠΎΠ΄Π΅Π»Π΅Π½ΠΈ Π²ΠΎ Π΄Π²Π΅ Π³Ρ€ΡƒΠΏΠΈ. Π’ΠΎ ΠΏΡ€Π²Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π±Π΅Π° Π°Π½Π°Π»ΠΈΠ·ΠΈΡ€Π°Π½ΠΈ 55 Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π Π”Π‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса, Π° Π²ΠΎ Π²Ρ‚ΠΎΡ€Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° 55 Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π°ΡΡ„ΠΈΠΊΡΠΈΡ˜Π° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса. Бтатистичката Π°Π½Π°Π»ΠΈΠ·Π° ΠΏΠΎΡ‚Π²Ρ€Π΄ΠΈ Π·Π½Π°Ρ‡ΠΈΡ‚Π΅Π»Π½ΠΎ Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈ врСдности Π½Π° ПЦВ Π²ΠΎ Π°Π½Π°Π»ΠΈΠ·ΠΈΡ€Π°Π½ΠΈΠΎΡ‚ ΠΏΠ΅Ρ€ΠΈΠΎΠ΄ Π²ΠΎ ΠΏΡ€Π²Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π Π”Π‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса, p<0,001. ΠΠ°Ρ˜Π²ΠΈΡΠΎΠΊΠΈΡ‚Π΅ просСчни врСдности (40,37Β±53,79) Π±Π΅Π° ΠΈΠ·ΠΌΠ΅Ρ€Π΅Π½ΠΈ Π·Π° Π²Ρ€Π΅ΠΌΠ΅ Π½Π° ΠΏΡ€ΠΈΠ΅ΠΌΠΎΡ‚ со висок ΠΏΠΈΠΊ Π²ΠΎ спорСдба со Π²Ρ‚ΠΎΡ€Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π°ΡΡ„ΠΈΠΊΡΠΈΡ˜Π° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса. Бтатистичката Π°Π½Π°Π»ΠΈΠ·Π° ΠΏΠΎΡ‚Π²Ρ€Π΄ΠΈ сигнификантно Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈ врСдности Π½Π° ПЦВ Π²ΠΎ Π°Π½Π°Π»ΠΈΠ·ΠΈΡ€Π°Π½ΠΈΠΎΡ‚ врСмСнски ΠΏΠ΅Ρ€ΠΈΠΎΠ΄ кај ΠΏΡ€Π²Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π Π”Π‘ ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса со ΠΌΠ΅Ρ…Π°Π½ΠΈΡ‡ΠΊΠ° Π²Π΅Π½Ρ‚ΠΈΠ»Π°Ρ†ΠΈΡ˜Π° (ΠœΠ’) ΠΈ bubble ΠΊΠΎΠ½Ρ‚ΠΈΠ½ΡƒΠΈΡ€Π°Π½ ΠΏΠΎΠ·ΠΈΡ‚ΠΈΠ²Π΅Π½ притисок Π½Π° Π΄ΠΈΡˆΠ½ΠΈΡ‚Π΅ ΠΏΠ°Ρ‚ΠΈΡˆΡ‚Π° (Π‘Π¦ΠŸΠΠŸ), спорСдСно со Π²Ρ‚ΠΎΡ€Π°Ρ‚Π° Π³Ρ€ΡƒΠΏΠ° Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π°ΡΡ„ΠΈΠΊΡΠΈΡ˜Π° ΠΈ Π΄ΠΎΠΊΠ°ΠΆΠ°Π½Π° сСпса,  p<0,001.  ΠŸΠ¦Π’ Π΅ Π²Π΅Ρ‚ΡƒΠ²Π°Ρ‡ΠΊΠΈ ΠΌΠ°Ρ€ΠΊΠ΅Ρ€ Π·Π° сСпса кај Π½ΠΎΠ²ΠΎΡ€ΠΎΠ΄Π΅Π½Ρ‡ΠΈΡšΠ° со Π Π”Π‘, кој ја Π½Π°Π΄ΠΎΠΏΠΎΠ»Π½ΡƒΠ²Π° ΠΊΠ»ΠΈΠ½ΠΈΡ‡ΠΊΠ°Ρ‚Π° ΠΏΡ€Π΅Π·Π΅Π½Ρ‚Π°Ρ†ΠΈΡ˜Π° ΠΈ рутинскитС лабораториски ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€ΠΈ ΠΊΠΎΠΈ ΡƒΠΊΠ°ΠΆΡƒΠ²Π°Π°Ρ‚ Π½Π° Ρ‚Π΅ΡˆΠΊΠ° ΠΈΠ½Ρ„Π΅ΠΊΡ†ΠΈΡ˜Π° Π·Π° Π²Ρ€Π΅ΠΌΠ΅ Π½Π° Ρ…ΠΎΡΠΏΠΈΡ‚Π°Π»ΠΈΠ·Π°Ρ†ΠΈΡ˜Π°Ρ‚Π° Π²ΠΎ Π•Π˜ΠΠ’

    Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia

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    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
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