Based on a clinical and epidemiological study of epilepsy among the indigenous and non-indigenous population in the Mashtaga settlement of Baku city (2016-2019), 197 patients with various forms of epilepsy aged 0 to 69 years were identified. In parallel, the ethnic aspect of the disease was studied. During the study period, certain ethnic characteristics of the indigenous population were identified, which influenced the prevalence of epilepsy, as well as its social frame and the characteristics of its clinical manifestations. As a result of the study, it turned out to be likely that brain neurons in male Asians in the northeast of the Great Silk Road and Hispanics in South America are relatively more prone to developing excessive neuronal discharges.
{"title":"EPILEPSY IN THE ETHNOCULTURAL ASPECT","authors":"U. A. Asadova","doi":"10.61788/njn.v2i22.06","DOIUrl":"https://doi.org/10.61788/njn.v2i22.06","url":null,"abstract":"Based on a clinical and epidemiological study of epilepsy among the indigenous and non-indigenous population in the Mashtaga settlement of Baku city (2016-2019), 197 patients with various forms of epilepsy aged 0 to 69 years were identified. In parallel, the ethnic aspect of the disease was studied. During the study period, certain ethnic characteristics of the indigenous population were identified, which influenced the prevalence of epilepsy, as well as its social frame and the characteristics of its clinical manifestations. As a result of the study, it turned out to be likely that brain neurons in male Asians in the northeast of the Great Silk Road and Hispanics in South America are relatively more prone to developing excessive neuronal discharges.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"191 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Мальформация Киари относится к врожденным аномалиям заднего мозга и характеризуется опущением миндалин мозжечка в большое затылочное отверстие со сдавлением продолговатого мозга и развитием соответствующей неврологическойсимптоматики. Вся концепция этих пороков развития возникла к концу 19го века из первоначальных описаний немецкого патологоанатома профессора Ганса Киари (1851–1916), который описывал изменения в мозжечке, возникающих в результате церебральной гидроцефалии. Он также классифицировал мальформации АрнольдаКиари на 4 типа. Целью данной работы является изучение литературы и обсуждение анатомических форм, классификации и истории открытия мальформации Киари.
{"title":"МАЛЬФОРМАЦИЯ КИАРИ. КРАТКИЙ ОБЗОР ПАТОЛОГИИ И ИСТОРИЯ ОТКРЫТИЯ","authors":"Etibarlı S.A., Najafbayli N.V.","doi":"10.28942/nnj.v2i22.329","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.329","url":null,"abstract":"Мальформация Киари относится к врожденным аномалиям заднего мозга и характеризуется опущением миндалин мозжечка в большое затылочное отверстие со сдавлением продолговатого мозга и развитием соответствующей неврологическойсимптоматики. Вся концепция этих пороков развития возникла к концу 19го века из первоначальных описаний немецкого патологоанатома профессора Ганса Киари (1851–1916), который описывал изменения в мозжечке, возникающих в результате церебральной гидроцефалии. Он также классифицировал мальформации АрнольдаКиари на 4 типа. Целью данной работы является изучение литературы и обсуждение анатомических форм, классификации и истории открытия мальформации Киари.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"108 1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89710876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
U. Omonova, N.A. Okiljonova, M.A. Shamsiddinova, A.A. Pak, H.T. Rashidova
The research work is based on a prospective and retrospective observation of 95 patients with hereditary spastic paraplegia (HSP), who constituted the main group. Among the examined patients of the main group, there were 58 (61%) boys and 37 (39%) girls. The average age in the main group was 7.8±0.48 years. All patients complained of limb weakness of varying degrees, gait disturbance. The age gradation of the patients ranged from 2 years to 15 years. When studying the pedigrees of patients with HSP, in 34 cases the marriage was related, which amounted to 35.7%. It was found that in 48% of cases (27 families) there were patients with a similar disease in families. During the clinical and neurological examination of patients with HSP, we revealed both pure spastic paraplegia, characterized only by motor disorders (82.1%), and spastic paraplegia with complications (17.8%) in the form of impaired craniocerebral insufficiency, dysfunction of the pelvic organs (7.3%), a history of seizures (5.2%), polyneuropathies (11.5%), extraneural symptoms were detected in 3 (3.1%) patients, i.e. congenital skin changes in the form of ichthyosis. In 2 patients with uncomplicated HSP, whole genome sequencing in the SPAST/SPG4 gene was performed; in both cases, homozygous carriage of pathogenic autosomal dominant mutations chr2:32369901CAT>C and c.1617-105 T>C in the coding region of the SPG4 gene in exon 15 responsible for for the synthesis of the protein spastin in the nervous system.
{"title":"CLINICAL AND MOLECULAR GENETIC ASPECTS OF STRÜMPEL'S HEREDITARY SPASTIC PARAPLEGIA IN UZBEKISTAN","authors":"U. Omonova, N.A. Okiljonova, M.A. Shamsiddinova, A.A. Pak, H.T. Rashidova","doi":"10.61788/njn.v2i22.05","DOIUrl":"https://doi.org/10.61788/njn.v2i22.05","url":null,"abstract":"The research work is based on a prospective and retrospective observation of 95 patients with hereditary spastic paraplegia (HSP), who constituted the main group. Among the examined patients of the main group, there were 58 (61%) boys and 37 (39%) girls. The average age in the main group was 7.8±0.48 years. All patients complained of limb weakness of varying degrees, gait disturbance. The age gradation of the patients ranged from 2 years to 15 years. When studying the pedigrees of patients with HSP, in 34 cases the marriage was related, which amounted to 35.7%. It was found that in 48% of cases (27 families) there were patients with a similar disease in families. During the clinical and neurological examination of patients with HSP, we revealed both pure spastic paraplegia, characterized only by motor disorders (82.1%), and spastic paraplegia with complications (17.8%) in the form of impaired craniocerebral insufficiency, dysfunction of the pelvic organs (7.3%), a history of seizures (5.2%), polyneuropathies (11.5%), extraneural symptoms were detected in 3 (3.1%) patients, i.e. congenital skin changes in the form of ichthyosis. In 2 patients with uncomplicated HSP, whole genome sequencing in the SPAST/SPG4 gene was performed; in both cases, homozygous carriage of pathogenic autosomal dominant mutations chr2:32369901CAT>C and c.1617-105 T>C in the coding region of the SPG4 gene in exon 15 responsible for for the synthesis of the protein spastin in the nervous system.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"55 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Приобретенная невильсоновская гепатоцеребральная дегенерация (ПНГЦД) является редкой патологией, которая развивается на фоне цирроза печени. По этой причине многие аспекты данного заболевания, в том числе, характер нейропсихологических нарушений, который имеет разнообразную клиническую картину хорошо не изучены. Целью данного исследования является описание нейропсихологических симптомов у пациентов с ПНГЦД на фоне цирроза печени.
{"title":"НЕЙРОПСИХОЛОГИЧЕСКИЕ И ДИФФЕРЕНЦИАЛЬНО ДИАГНОСТИЧЕСКИЕ ОСОБЕННОСТИ У БОЛЬНЫХ С ПРИОБРЕТЕННОЙ НЕВИЛЬСОНОВСКОЙ ДЕГЕНЕРАЦИЕЙ НА ФОНЕ ЦИРРОЗА ПЕЧЕНИ","authors":"Khanova M.N., Madjidova Ya.N.","doi":"10.28942/nnj.v2i22.332","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.332","url":null,"abstract":"Приобретенная невильсоновская гепатоцеребральная дегенерация (ПНГЦД) является редкой патологией, которая развивается на фоне цирроза печени. По этой причине многие аспекты данного заболевания, в том числе, характер нейропсихологических нарушений, который имеет разнообразную клиническую картину хорошо не изучены. Целью данного исследования является описание нейропсихологических симптомов у пациентов с ПНГЦД на фоне цирроза печени.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84847474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
На основании клинико-эпидемиологического исследования эпилепсии среди коренного и некоренного населения в поселке Маштага города Баку (2016-2019) было выявлено 197 пациентов с различными формами эпилепсии в возрасте от 0 до 69 лет. Параллельно изучался этнический аспект заболевания. В периоде исследования были выявлены определенные этнические особенности коренного населения, которые повлияли на распространенность эпилепсии, а также на ее социальное обрамление и особенности ее клинических проявлений. В результате исследования оказалось вероятным то, что нейроны головного мозга у азиатов мужского пола на северо – востоке великого Шёлкового пути и латиноамериканцев Южной Америки сравнительно больше подвержены развитию чрезмерных нейронных разрядов
{"title":"ЭПИЛЕПСИЯ В ЭТНОКУЛЬТУРАЛЬНОМ АСПЕКТЕ","authors":"Asadova U.A.","doi":"10.28942/nnj.v2i22.334","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.334","url":null,"abstract":"На основании клинико-эпидемиологического исследования эпилепсии среди коренного и некоренного населения в поселке Маштага города Баку (2016-2019) было выявлено 197 пациентов с различными формами эпилепсии в возрасте от 0 до 69 лет. Параллельно изучался этнический аспект заболевания. В периоде исследования были выявлены определенные этнические особенности коренного населения, которые повлияли на распространенность эпилепсии, а также на ее социальное обрамление и особенности ее клинических проявлений. В результате исследования оказалось вероятным то, что нейроны головного мозга у азиатов мужского пола на северо – востоке великого Шёлкового пути и латиноамериканцев Южной Америки сравнительно больше подвержены развитию чрезмерных нейронных разрядов","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"26 3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83502762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The indicators of a child's development are influenced not only by biomedical and prenatal changes, but also by factors such as the environment in which he grows up, family relationships, acquired appropriate skills, which play a key role in the child's socialization. These indicators are closely related to each other, and if any of them is violated, developmental deviations are formed. In evaluating a child's development, in addition to the prenatal and biomedical history, the pediatrician must also consider the child's social environment. Improper organization of medical and psychological care, especially at an early age, increases the percentage of general morbidity and disability in the child population.
{"title":"ASSESSMENT OF EARLY CHILDHOOD DEVELOPMENT","authors":"А.I. Qasanov, Z.M. Quliyeva, R.R. Asgerova","doi":"10.61788/njn.v2i22.07","DOIUrl":"https://doi.org/10.61788/njn.v2i22.07","url":null,"abstract":"The indicators of a child's development are influenced not only by biomedical and prenatal changes, but also by factors such as the environment in which he grows up, family relationships, acquired appropriate skills, which play a key role in the child's socialization. These indicators are closely related to each other, and if any of them is violated, developmental deviations are formed. In evaluating a child's development, in addition to the prenatal and biomedical history, the pediatrician must also consider the child's social environment. Improper organization of medical and psychological care, especially at an early age, increases the percentage of general morbidity and disability in the child population.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The aim of the study. To assess the rate and predictors of mortality among premature newborns with intracranial non-traumatic hemorrhages. Materials and methods. 996 newborns have been examined by means of comprehensive neurological and neurosonographic methods. Children with approved diagnosis of intracranial non-traumatic hemorrhages were placed in the intensive care unit and underwent the treatment in correspondence with the national clinical protocols. Results. The predictors, which are associated with a statistically significant increase in neonatal mortality, have been detected. Conclusion. The mortality rate among children with intracranial non-traumatic hemorrhages in Perinatal Center was 30.7±3.7%. Mortality risk predictors are multiple pregnancy, gestational age <32 weeks, Apgar score ≤3, birth weight <1500 grams, the severity of the hemorrhage III and IV.
{"title":"NEONATAL MORTALITY AND ITS PREDICTOR IN CASES OF INTRACRANIAL NON-TRAUMATIC HEMORRHAGES","authors":"U.G. Mursalova, A. K. Mammadbayli, Sh.N. Guluzade","doi":"10.61788/njn.v2i22.02","DOIUrl":"https://doi.org/10.61788/njn.v2i22.02","url":null,"abstract":"The aim of the study. To assess the rate and predictors of mortality among premature newborns with intracranial non-traumatic hemorrhages. Materials and methods. 996 newborns have been examined by means of comprehensive neurological and neurosonographic methods. Children with approved diagnosis of intracranial non-traumatic hemorrhages were placed in the intensive care unit and underwent the treatment in correspondence with the national clinical protocols. Results. The predictors, which are associated with a statistically significant increase in neonatal mortality, have been detected. Conclusion. The mortality rate among children with intracranial non-traumatic hemorrhages in Perinatal Center was 30.7±3.7%. Mortality risk predictors are multiple pregnancy, gestational age <32 weeks, Apgar score ≤3, birth weight <1500 grams, the severity of the hemorrhage III and IV.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acquired non-Wilsonian hepatocerebral degeneration (ANHD) is a rare pathology that develops against the background of hepatic cirrhosis, for this reason, many aspects of this disease, including the nature of neuropsychological disorders, which has a diverse clinical picture are not well understood. The aim of this study is to describe the neuropsychological symptoms in patients with ANHD associated with hepatic cirrhosis.
{"title":"NEUROPSYCHOLOGICAL AND DIFFERENTIAL DIAGNOSTIC FEATURES IN PATIENTS WITH ACQUIRED NON-WILSONIAN DEGENERATION ON THE BACKGROUND OF LIVER CIRRHOSIS","authors":"M.N. Khanova, Y. Madjidova","doi":"10.61788/njn.v2i22.04","DOIUrl":"https://doi.org/10.61788/njn.v2i22.04","url":null,"abstract":"Acquired non-Wilsonian hepatocerebral degeneration (ANHD) is a rare pathology that develops against the background of hepatic cirrhosis, for this reason, many aspects of this disease, including the nature of neuropsychological disorders, which has a diverse clinical picture are not well understood. The aim of this study is to describe the neuropsychological symptoms in patients with ANHD associated with hepatic cirrhosis.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gəncə şəhərində 2005-2009-cu illərin qeydiyyat nəticələrinə əsasən müəyyən olunmuş epilepsiyalı 322 xəstə ətraflı tədqiq olunmuşdur. Onlardan 188 nəfəri kişi (58,38%), 134 nəfəri isə qadın (41,61%) olmuşdur. Bizim tədqiqatlarımızda xəstələnmə göstəriciləri 0-4 yaşlarından 20-29 yaşlarına qədər tədricən artmışdır, 20-29 yaşlarında pik səviyyəyə çatmış, sonra isə azalaraq 60-69 yaşlarında kəskin aşağı düşmüşdür. Yuxarıda qeyd olunanları əyani şəkildə göstərsək, 0-4, 5-9, 10-14, 15-19, 20-29, 30-39, 40-49, 50-59, 60-69 yaş qruplarında müvafiq olaraq bu tendensiyanı müşahidə edirik – 5,90% > 11,80% > 15,52% > 18,01% > 21,11% > 13,66% > 6,52% > 6,21% > 1,24% .
{"title":"GƏNCƏ ŞƏHƏRİNDƏ 2005-2009-CU İLLƏRİN QEYDİYYAT NƏTİCƏLƏRİNƏ ƏSASƏN MÜƏYYƏN OLUNMUŞ EPİLEPSİYALI XƏSTƏLƏRİN YAYILMASININ CİNSYAŞ STRUKTURU","authors":"Bayramova L.Q., Mehtiyeva Sh.N., Mammadbayli A.K.","doi":"10.28942/nnj.v2i22.331","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.331","url":null,"abstract":"Gəncə şəhərində 2005-2009-cu illərin qeydiyyat nəticələrinə əsasən müəyyən olunmuş epilepsiyalı 322 xəstə ətraflı tədqiq olunmuşdur. Onlardan 188 nəfəri kişi (58,38%), 134 nəfəri isə qadın (41,61%) olmuşdur. Bizim tədqiqatlarımızda xəstələnmə göstəriciləri 0-4 yaşlarından 20-29 yaşlarına qədər tədricən artmışdır, 20-29 yaşlarında pik səviyyəyə çatmış, sonra isə azalaraq 60-69 yaşlarında kəskin aşağı düşmüşdür. Yuxarıda qeyd olunanları əyani şəkildə göstərsək, 0-4, 5-9, 10-14, 15-19, 20-29, 30-39, 40-49, 50-59, 60-69 yaş qruplarında müvafiq olaraq bu tendensiyanı müşahidə edirik – 5,90% > 11,80% > 15,52% > 18,01% > 21,11% > 13,66% > 6,52% > 6,21% > 1,24% .","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"110 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75988568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lizosom mübadilə xəstəliyindən şübhəli iki eyni yumurta ekizi qızların qanından istifadə edilmişdir. Diaqnostik məqsədlə yeni nəsil sekvenləşdirmə - NGS metodundan və diaqnostik amplikon panelindən isrifadə edilmişdir. Diaqnostik panel: Krabbe xəstəliyini, mukopolisaxaridoz II tip (Xanter xəstəliyi), Niemann-Pick xəstəliyini, mukopolisaxaridoz IV Tip (Morkio xəstəliyi), Fabri xəstəliyini, çoxsaylı sulfataza defisitini, Qoşe xəstəliyini, qanqliozidazanı, mukopolisaxaridoz 1 Tip (Qurler xəstəliyini), mukopolisazaridoz VII Tip (Leya xəstəliyi), və yuvenil Parkinson xəstəliyini təmsil edir. Müayinə olunanların GALC geninin molekulyar analizi genin 15-ci intronun c.1834 hissəsində GTCAG nukleotid fraqmentinin digər AGTCAC nukleotid fraqmentilə əvəzi identifikasiya edilmişdir (c.1834 GTCAG>AGTCAC). Dünya ədəbiyyatında bu mutasiya haqda məlumat yoxdur. GALC geninin bu mutasiyası ilk dəfədir ki, azərbaycanlı uşaqlarda təsadüf edilmişdir.
{"title":"KRABBE LİZOSOM MÜBADİLƏ XƏSTƏLİYİNİN GENETİK TƏDQİQİ","authors":"Latifova G.B., Mammadbayli A.K., Rasulov E.M.","doi":"10.28942/nnj.v2i22.337","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.337","url":null,"abstract":"Lizosom mübadilə xəstəliyindən şübhəli iki eyni yumurta ekizi qızların qanından istifadə edilmişdir. Diaqnostik məqsədlə yeni nəsil sekvenləşdirmə - NGS metodundan və diaqnostik amplikon panelindən isrifadə edilmişdir. Diaqnostik panel: Krabbe xəstəliyini, mukopolisaxaridoz II tip (Xanter xəstəliyi), Niemann-Pick xəstəliyini, mukopolisaxaridoz IV Tip (Morkio xəstəliyi), Fabri xəstəliyini, çoxsaylı sulfataza defisitini, Qoşe xəstəliyini, qanqliozidazanı, mukopolisaxaridoz 1 Tip (Qurler xəstəliyini), mukopolisazaridoz VII Tip (Leya xəstəliyi), və yuvenil Parkinson xəstəliyini təmsil edir. Müayinə olunanların GALC geninin molekulyar analizi genin 15-ci intronun c.1834 hissəsində GTCAG nukleotid fraqmentinin digər AGTCAC nukleotid fraqmentilə əvəzi identifikasiya edilmişdir (c.1834 GTCAG>AGTCAC). Dünya ədəbiyyatında bu mutasiya haqda məlumat yoxdur. GALC geninin bu mutasiyası ilk dəfədir ki, azərbaycanlı uşaqlarda təsadüf edilmişdir.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77192519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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