Introduction. Multifocal motor neuropathy (MMN) is a chronic autoimmune, multiple neuropathy with an isolated lesion of motor fibers, the development of asymmetric distal paresis with a predominant involvement of the hands. The disease is rare: the prevalence of MMN in the world is from 0.6-2.0 per 100 000 people. The disease is diagnosed 3-4 times more often in men. Isolated cases of the development of the disease in children are described. Epidemiological studies on the prevalence of MMN among the adult population in the Republic of Azerbaijan have not been conducted. The aim of the study. To highlight the features of the differential diagnostic series for suspected multifocal motor neuropathy. Case presentation. Patient A., aged 29, was admitted to our clinic with complaints of slowly progressive muscle weakness, numbness, parasthesia. During the study, tendon reflexes in the upper and lower extremities were reduced. To clarify the diagnosis, an ENMG examination of the peripheral nerves of the upper and lower extremities was prescribed. A patient on ENMG of the tibial nerve has signs of demyelination (decrease in the speed of propagation of excitation (ERV) to 33.2 m/s). In this regard, to differentiate from other polyneuropathies, the patient underwent ultrasound of the tibial nerve throughout its entire length. At the same time, segmental expansion of the tibial nerve and a decrease in echogenicity with obliteration of the cable structure due to the predominance of the type 3 interstitial component are detected on the right – asymmetric local structural changes. On the left – an increase in echogenicity due to the predominance of thickening of the interstitial component with an erased cable structure, thinning of the fascicular component - an asymmetric local structural change. Based on the nature of the lesion, the patient was diagnosed with multifocal motor neuropathy. A comprehensive examination of the patient, including, along with traditional ENMG and ultrasound, nerves, made it possible to reduce the time for making a diagnosis and start pathogenetic treatment of the patient in a timely manner. Timely prescribed immunoglobulin therapy made it possible to avoid further deterioration of the patient's condition and the risk of his disability. Discussion. The combination of clinical signs that meet the criteria for the disease,developed by the recommendations of the European Federation of Neurological Societies /Society of Peripheral Nerves (EFNS / PNS, 2010) for the study of MMN, as well as the results of instrumental diagnostic studies (ENMG and ultrasound), makes the diagnosis of multifocal motor neuropathy indisputable. Conclusion. Multifocal motor neuropathy is classified as an acquired autoimmune demyelinating multiple neuropathy, accompanied by damage to the myelin sheath of neurons, which in turn causes a violation of the conduction of nerve impulses along the motor nerves from the brain to the muscles. MRI of the brachial plexus (
{"title":"MULTIFOCAL MOTOR NEUROPATHY","authors":"N.C. Taghiyeva","doi":"10.61788/njn.v1i23.18","DOIUrl":"https://doi.org/10.61788/njn.v1i23.18","url":null,"abstract":"Introduction. Multifocal motor neuropathy (MMN) is a chronic autoimmune, multiple neuropathy with an isolated lesion of motor fibers, the development of asymmetric distal paresis with a predominant involvement of the hands. The disease is rare: the prevalence of MMN in the world is from 0.6-2.0 per 100 000 people. The disease is diagnosed 3-4 times more often in men. Isolated cases of the development of the disease in children are described. Epidemiological studies on the prevalence of MMN among the adult population in the Republic of Azerbaijan have not been conducted. The aim of the study. To highlight the features of the differential diagnostic series for suspected multifocal motor neuropathy. Case presentation. Patient A., aged 29, was admitted to our clinic with complaints of slowly progressive muscle weakness, numbness, parasthesia. During the study, tendon reflexes in the upper and lower extremities were reduced. To clarify the diagnosis, an ENMG examination of the peripheral nerves of the upper and lower extremities was prescribed. A patient on ENMG of the tibial nerve has signs of demyelination (decrease in the speed of propagation of excitation (ERV) to 33.2 m/s). In this regard, to differentiate from other polyneuropathies, the patient underwent ultrasound of the tibial nerve throughout its entire length. At the same time, segmental expansion of the tibial nerve and a decrease in echogenicity with obliteration of the cable structure due to the predominance of the type 3 interstitial component are detected on the right – asymmetric local structural changes. On the left – an increase in echogenicity due to the predominance of thickening of the interstitial component with an erased cable structure, thinning of the fascicular component - an asymmetric local structural change. Based on the nature of the lesion, the patient was diagnosed with multifocal motor neuropathy. A comprehensive examination of the patient, including, along with traditional ENMG and ultrasound, nerves, made it possible to reduce the time for making a diagnosis and start pathogenetic treatment of the patient in a timely manner. Timely prescribed immunoglobulin therapy made it possible to avoid further deterioration of the patient's condition and the risk of his disability. Discussion. The combination of clinical signs that meet the criteria for the disease,developed by the recommendations of the European Federation of Neurological Societies /Society of Peripheral Nerves (EFNS / PNS, 2010) for the study of MMN, as well as the results of instrumental diagnostic studies (ENMG and ultrasound), makes the diagnosis of multifocal motor neuropathy indisputable. Conclusion. Multifocal motor neuropathy is classified as an acquired autoimmune demyelinating multiple neuropathy, accompanied by damage to the myelin sheath of neurons, which in turn causes a violation of the conduction of nerve impulses along the motor nerves from the brain to the muscles. MRI of the brachial plexus (","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353883","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}
Objectives. CX3CL1 is a unique chemokine with direct relationship with its receptor to reduce expression of proinflammatory genes inactivated microglia.It is constitutively expressed by healty neurons and defined as neuroimmune regulatory protein.CX3CL1/CX3CR1signaling has been linked to human neurodegeneration. Under physiological conditions, disruption of this signaling leads to impairments inmotor learning, cognitive function, and synaptic plasticity. CX3CR1 also plays a role in the regulation of hippocampal-dependent memoryformation.Our aim in this study is to evaluate the role of CX3CL1 on immunopathogenesis and cognitive functions in Relapsing Remitting (RRMS) and Secondary Progressive Multiple Sclerosis (SPMS) patients in terms of biomarker possibility. Methods. Eight RRMS, 24 SPMS and 30 healty controls have been participated in this study. RRMS and SPMS were diagnosed according toMc Donald 2017 criteria. The degree of neurological deficits were assessed by EDSS.Serum levels of CX3CL1 were measured by ELISAmethod.The severity of cognitive impairment in patients were evaluate with MoCA test.Statistical analysis were performed using the IBMSPSS21. Results. When the RRMS, SPMS and control groups were compared,it was observed that the serum CX3CL1 levels in the SPMS groupwere decreased statistically significant.In addition,there was a positive correlation between MoCA score and serum CX3CL1 level in thepatients with RRMS and SPMS. Conclusion. Cytokines and chemokines play an important role in the immunopathogenesis of multiple sclerosis.Amongchemokines, serum levels of CX3CL1 was reported to be elevated in RRMS patients. However, it has not been observed in patients SPMS. CX3CL1 is an intrinsic neuroprotective chemokine and inhibitor against neurotoxicity. According to the results of our study, thedecrease in serum CX3CL1 levels serum CX3CL1 supports the development of neurodegeneration related neuroinflammation. In addition, thepositive correlation of MoCA test with CX3CL1 levels suggests that it has an important role in cognition. As a result, our study shows that CX3CL1 can be used as an early biomarker associated with disease progression and cognition, additionally it will be promising newtherapeutic target.
{"title":"INVESTIGATION OF THE EFFECTS OF CX3CL1 ON IMMUNOPATHOGENESIS AND COGNITIVE FUNCTIONS IN RELAPSING REMITTINGAND SECONDARY PROGRESSIVE MULTIPLE SCLEROSIS PATIENTS IN TERMS OF THE POSSIBILITY OF A BIOMARKER","authors":"C. Irkech, T. Kuz, E. Eruyar, I. Fidan","doi":"10.61788/njn.v1i23.17","DOIUrl":"https://doi.org/10.61788/njn.v1i23.17","url":null,"abstract":"Objectives. CX3CL1 is a unique chemokine with direct relationship with its receptor to reduce expression of proinflammatory genes inactivated microglia.It is constitutively expressed by healty neurons and defined as neuroimmune regulatory protein.CX3CL1/CX3CR1signaling has been linked to human neurodegeneration. Under physiological conditions, disruption of this signaling leads to impairments inmotor learning, cognitive function, and synaptic plasticity. CX3CR1 also plays a role in the regulation of hippocampal-dependent memoryformation.Our aim in this study is to evaluate the role of CX3CL1 on immunopathogenesis and cognitive functions in Relapsing Remitting (RRMS) and Secondary Progressive Multiple Sclerosis (SPMS) patients in terms of biomarker possibility. Methods. Eight RRMS, 24 SPMS and 30 healty controls have been participated in this study. RRMS and SPMS were diagnosed according toMc Donald 2017 criteria. The degree of neurological deficits were assessed by EDSS.Serum levels of CX3CL1 were measured by ELISAmethod.The severity of cognitive impairment in patients were evaluate with MoCA test.Statistical analysis were performed using the IBMSPSS21. Results. When the RRMS, SPMS and control groups were compared,it was observed that the serum CX3CL1 levels in the SPMS groupwere decreased statistically significant.In addition,there was a positive correlation between MoCA score and serum CX3CL1 level in thepatients with RRMS and SPMS. Conclusion. Cytokines and chemokines play an important role in the immunopathogenesis of multiple sclerosis.Amongchemokines, serum levels of CX3CL1 was reported to be elevated in RRMS patients. However, it has not been observed in patients SPMS. CX3CL1 is an intrinsic neuroprotective chemokine and inhibitor against neurotoxicity. According to the results of our study, thedecrease in serum CX3CL1 levels serum CX3CL1 supports the development of neurodegeneration related neuroinflammation. In addition, thepositive correlation of MoCA test with CX3CL1 levels suggests that it has an important role in cognition. As a result, our study shows that CX3CL1 can be used as an early biomarker associated with disease progression and cognition, additionally it will be promising newtherapeutic target.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353920","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}
Y. Shatokhin, I. Snezhko, E. V. Ryabikina, E. V. Degtereva
Iron deficiency (ID) and iron deficiency anemia (IDA) are common conditions that lead to reduced physical and mental performance. ID may be accompanied by symptoms of astheno- neurotic syndrome and the severity of its manifestations are determined by the severity of ID. Considering the prevalence of iron deficiency conditions, the multifactorial nature of their development, it is advisable to study the exchange of Fe in patients suffering from astheno- neurotic syndrome. Taking Fe preparations, in addition to correcting latent ID or IDA, in most cases leads to a decrease and in some cases to relief of manifestations of astheno-neurotic syndrome.
缺铁（ID）和缺铁性贫血（IDA）是导致体能和智能下降的常见疾病。缺铁性贫血可能伴有哮喘神经综合征的症状，其表现的严重程度取决于缺铁性贫血的严重程度。考虑到缺铁情况的普遍性及其发展的多因素性质，研究神经衰弱综合症患者的铁交换情况是明智的。服用铁制剂，除了能纠正潜伏的 ID 或 IDA 外，在大多数情况下还能减轻，在某些情况下还能缓解哮喘神经综合征的表现。
{"title":"ASTHENONEUROTIC SYNDROME AS A MANIFESTATION OF IRON DEFICIENCY","authors":"Y. Shatokhin, I. Snezhko, E. V. Ryabikina, E. V. Degtereva","doi":"10.61788/njn.v1i23.07","DOIUrl":"https://doi.org/10.61788/njn.v1i23.07","url":null,"abstract":"Iron deficiency (ID) and iron deficiency anemia (IDA) are common conditions that lead to reduced physical and mental performance. ID may be accompanied by symptoms of astheno- neurotic syndrome and the severity of its manifestations are determined by the severity of ID. Considering the prevalence of iron deficiency conditions, the multifactorial nature of their development, it is advisable to study the exchange of Fe in patients suffering from astheno- neurotic syndrome. Taking Fe preparations, in addition to correcting latent ID or IDA, in most cases leads to a decrease and in some cases to relief of manifestations of astheno-neurotic syndrome.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353687","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}
OBJECTIVES: The objective of this study was to present the clinical and demographic characteristics of patients diagnosed with multiple sclerosis (MS) who received Ocrelizumab treatment at Kocaeli University Neurology Outpatient Clinic. METHODS: A retrospective analysis was conducted on the data of 118 MS patients who underwent Ocrelizumab treatment at Kocaeli University Neurology Clinic between January 2000 and 2023. The study evaluated demographic characteristics, clinical findings, and radiological findings of the patients, including age, gender, family history, age of onset of complaints, age of MS diagnosis, MS clinical phenotype, disease duration, first attack symptoms, previous treatments, Lublin criteria evaluation, Expanded Disability Status Scale (EDSS), and radiological findings. RESULTS: Out of the 118 cases analyzed, 68.6% were female and 31.4% were male, resulting in a female/male ratio of 2.18. The most common first attack symptoms observed were sensory and motor findings (38.1%), followed by motor findings (20.3%), brain stem findings (17.7%), visual impairment (12.7%), sensory findings (6.7%), and sphincter involvement (4.23%). The majority of cases (75.4%) were classified as Relapsing Remitting Multiple Sclerosis (RRMS), while 24.6% were Secondary Progressive Multiple Sclerosis (SPMS). The reasons for transitioning to Ocrelizumab treatment varied, including progression and MRI activity increase, progression increase, MRI activity increase, MRI activity and frequency of attacks increase, and drug side effects. The evaluation of attack frequency before Ocrelizumab treatment showed that 44.91% had one attack, 17.79% had two attacks, and 37.28% had no attacks in the last year. Post- treatment, 90.67% of patients did not experience any attacks, while attacks were detected in 9.33% of cases. The EDSS evaluation was performed before treatment and at the sixth, 12th, and 24th months after treatment. One patient discontinued Ocrelizumab due to pregnancy. CONCLUSION: In conclusion, this retrospective study provided insights into the clinical and demographic characteristics of MS patients treated with Ocrelizumab. The treatment demonstrated a reduction in attack frequency in the majority of patients. Further research with larger patient populations is necessary to confirm the efficacy and safety of Ocrelizumab in the treatment of multiple sclerosis.
{"title":"OCRELIZUMAB TREATMENT IN PATIENTS WITH MULTIPLE SCLEROSIS: A SINGLE CENTER EXPERIENCE","authors":"S. D. Bunul, B. Bayramzade","doi":"10.61788/njn.v1i23.19","DOIUrl":"https://doi.org/10.61788/njn.v1i23.19","url":null,"abstract":"OBJECTIVES: The objective of this study was to present the clinical and demographic characteristics of patients diagnosed with multiple sclerosis (MS) who received Ocrelizumab treatment at Kocaeli University Neurology Outpatient Clinic. METHODS: A retrospective analysis was conducted on the data of 118 MS patients who underwent Ocrelizumab treatment at Kocaeli University Neurology Clinic between January 2000 and 2023. The study evaluated demographic characteristics, clinical findings, and radiological findings of the patients, including age, gender, family history, age of onset of complaints, age of MS diagnosis, MS clinical phenotype, disease duration, first attack symptoms, previous treatments, Lublin criteria evaluation, Expanded Disability Status Scale (EDSS), and radiological findings. RESULTS: Out of the 118 cases analyzed, 68.6% were female and 31.4% were male, resulting in a female/male ratio of 2.18. The most common first attack symptoms observed were sensory and motor findings (38.1%), followed by motor findings (20.3%), brain stem findings (17.7%), visual impairment (12.7%), sensory findings (6.7%), and sphincter involvement (4.23%). The majority of cases (75.4%) were classified as Relapsing Remitting Multiple Sclerosis (RRMS), while 24.6% were Secondary Progressive Multiple Sclerosis (SPMS). The reasons for transitioning to Ocrelizumab treatment varied, including progression and MRI activity increase, progression increase, MRI activity increase, MRI activity and frequency of attacks increase, and drug side effects. The evaluation of attack frequency before Ocrelizumab treatment showed that 44.91% had one attack, 17.79% had two attacks, and 37.28% had no attacks in the last year. Post- treatment, 90.67% of patients did not experience any attacks, while attacks were detected in 9.33% of cases. The EDSS evaluation was performed before treatment and at the sixth, 12th, and 24th months after treatment. One patient discontinued Ocrelizumab due to pregnancy. CONCLUSION: In conclusion, this retrospective study provided insights into the clinical and demographic characteristics of MS patients treated with Ocrelizumab. The treatment demonstrated a reduction in attack frequency in the majority of patients. Further research with larger patient populations is necessary to confirm the efficacy and safety of Ocrelizumab in the treatment of multiple sclerosis.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353850","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}
Y. Shatokhin, I. Snezhko, E. V. Ryabikina, E. V. Degtereva
Modern drugs and schemes based on them, used in oncohematology, cause a high risk of developing many variants of neurological complications, including cytostatic-induced neurotoxicity of various origins, one of the severe complications of chemoradiotherapy. These side effects occur not only immediately after the administration of chemotherapy drugs, but also delayed, and therefore concern not only hematologists, oncologists, but also neurologists, therapists, general practitioners who carry out subsequent outpatient monitoring of patients. Reducing the clinical manifestations of these complications leads not only to an improvement in the quality of life of patients, but also to an increase in their survival. Knowledge of algorithms for early diagnosis of damage to the peripheral and central nervous system and the possibilities of using drug therapy to minimize their manifestations are necessary in the work of internists.
{"title":"DRUG NEURO INFLUENCES IN ONCOHEMATOLOGY","authors":"Y. Shatokhin, I. Snezhko, E. V. Ryabikina, E. V. Degtereva","doi":"10.61788/njn.v1i23.01","DOIUrl":"https://doi.org/10.61788/njn.v1i23.01","url":null,"abstract":"Modern drugs and schemes based on them, used in oncohematology, cause a high risk of developing many variants of neurological complications, including cytostatic-induced neurotoxicity of various origins, one of the severe complications of chemoradiotherapy. These side effects occur not only immediately after the administration of chemotherapy drugs, but also delayed, and therefore concern not only hematologists, oncologists, but also neurologists, therapists, general practitioners who carry out subsequent outpatient monitoring of patients. Reducing the clinical manifestations of these complications leads not only to an improvement in the quality of life of patients, but also to an increase in their survival. Knowledge of algorithms for early diagnosis of damage to the peripheral and central nervous system and the possibilities of using drug therapy to minimize their manifestations are necessary in the work of internists.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353875","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}
Multiple sclerosis (MS) is a chronic autoimmune-inflammatory disease that causes widespread neurodegeneration in central nervous system. The prevalence of MS is increasing worldwide, and the cause of the disease is still unclear. However, the role of a number of factors in developing MS has been studied. These include genetic factors, race and ethnicity, Epstein-Barr virus infection, geografic latitude, ultraviolet exposure, migration, low blood levels of vitamin D, female gender, diet, obesity, smoking, occupational exposure to toxic substances, stress, mycoplasma pneumonia infection, etc. The proposed literature review discusses studies on the study and prevention of risk factors for MS.
多发性硬化症（MS）是一种慢性自身免疫炎症性疾病，会引起中枢神经系统广泛的神经变性。多发性硬化症的发病率在全球范围内呈上升趋势，其病因尚不清楚。不过，人们已经对多发性硬化症发病的一些因素进行了研究。这些因素包括遗传因素、种族和民族、Epstein-Barr 病毒感染、地理纬度、紫外线照射、迁移、血液中维生素 D 含量低、女性性别、饮食、肥胖、吸烟、职业性接触有毒物质、压力、支原体肺炎感染等。拟议的文献综述讨论了有关多发性硬化症风险因素的研究和预防。
{"title":"RISK FACTORS AND PREVENTION OF MULTIPLE SCLEROSIS","authors":"R.R. Aliyev, R. Shiraliyeva","doi":"10.61788/njn.v1i23.02","DOIUrl":"https://doi.org/10.61788/njn.v1i23.02","url":null,"abstract":"Multiple sclerosis (MS) is a chronic autoimmune-inflammatory disease that causes widespread neurodegeneration in central nervous system. The prevalence of MS is increasing worldwide, and the cause of the disease is still unclear. However, the role of a number of factors in developing MS has been studied. These include genetic factors, race and ethnicity, Epstein-Barr virus infection, geografic latitude, ultraviolet exposure, migration, low blood levels of vitamin D, female gender, diet, obesity, smoking, occupational exposure to toxic substances, stress, mycoplasma pneumonia infection, etc. The proposed literature review discusses studies on the study and prevention of risk factors for MS.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353914","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}
Introduction. Neuromyelitis optica spectrum disorder is a rare anticor-mediated demyelinating disease of the central nervous system. Long segment myelitis, persistent vomiting and hiccups, or optic neuritis are classic symptoms of the disease. Although CSF OCD negativity is detected in most of the NMO patients, being positive does not rule out the diagnosis. Here, we aimed to present a case of NMO with AQP-4 negative and type-2 OCD positivity. Case presentation. A 28-years old female patient was admitted showing symptoms of numbness starting in the right hand and spreading to extremities, weakness and urinary incontinence. Tetraplegia was present during her neurological examination. Cranial and Cervical MRI revealed an expanded, hyperintense, edematous lesion with peripheral enhancement extending from the bulbus to the c7 vertebra level. In her story, there was persistent vomiting and hiccups that started two months ago and lasted for about a month. CSF biochemistry was within normal limits, Anti-AQP4 negative, OCD Type-2 positive, igg index was 1.24. After 10 days of IV methylprednisolone treatment, the patient was administered 1 mg/kg oral prednisolone, 10 sessions of plasmapheresis. At 1 month, she was tracheostomized and muscle strength was 2/5 in all four extremities. It was regarded that the patient had Area Postrema syndrome and tetraplegia clinic due to persistent vomiting and hiccups, and acute myelitis involvement, hence she was deemed as seronegative NMO and 2.5 mg/kg/day azathioprine was started. In 3rd month, she could be mobilized short distance without support in spontaneous respiration and muscle strength was proximal 4/5 distal frust paresis in all four extremities. Control examination at 6 months, 1 year and 2 years was normal, cranial MRI was within normal limits, and a regressive pale T2 hyperintense lesion at C3-C7 level was observed in cervical MRI. Discussion. Neuromyelitis optica is an immune-mediated, inflammatory, demyelinating disease that affects the optic nerves and spinal cord, with less persistent vomiting, hiccups, and symptomatic narcolepsy. It differs from multiple sclerosis in pathogenesis, biomarkers, imaging features, and response to treatment. Compared to MS, it consists of longitudinally extending spinal cord lesions that spans three or more segments. Although CSF OCD’s are a diagnostic mainstay in MS, AQP4-IgG is mainly produced outside of CSF, is not found in most patients with NMO, but it is known that positive OCDs do not exclude the diagnosis. The diagnosis of NMO of our patient was made based on the clinical findings of area postrema syndrome and the formation of transverse myelitis involving multiple segments of the spinal cord (from bulbus to c7) on MRI. Conclusion. We wanted to emphasize that AQP4-IgG negative and OCD Type-2 positivity, which meets the clinical and MRI criteria for neuromyelitis optica, can be observed together, and persistent vomiting and hiccup attacks can be linked to area postre
{"title":"A CASE REPORT OF AQUAPORIN-4 ANTIBODY NEGATIVE OLIGOCLONAL BAND TYPE 2 POSITIVE NEUROMYELITIS OPTICA SPECTRUM DISORDER","authors":"A. Gunduz, B.G. Chelenek, A. Unal","doi":"10.61788/njn.v1i23.25","DOIUrl":"https://doi.org/10.61788/njn.v1i23.25","url":null,"abstract":"Introduction. Neuromyelitis optica spectrum disorder is a rare anticor-mediated demyelinating disease of the central nervous system. Long segment myelitis, persistent vomiting and hiccups, or optic neuritis are classic symptoms of the disease. Although CSF OCD negativity is detected in most of the NMO patients, being positive does not rule out the diagnosis. Here, we aimed to present a case of NMO with AQP-4 negative and type-2 OCD positivity. Case presentation. A 28-years old female patient was admitted showing symptoms of numbness starting in the right hand and spreading to extremities, weakness and urinary incontinence. Tetraplegia was present during her neurological examination. Cranial and Cervical MRI revealed an expanded, hyperintense, edematous lesion with peripheral enhancement extending from the bulbus to the c7 vertebra level. In her story, there was persistent vomiting and hiccups that started two months ago and lasted for about a month. CSF biochemistry was within normal limits, Anti-AQP4 negative, OCD Type-2 positive, igg index was 1.24. After 10 days of IV methylprednisolone treatment, the patient was administered 1 mg/kg oral prednisolone, 10 sessions of plasmapheresis. At 1 month, she was tracheostomized and muscle strength was 2/5 in all four extremities. It was regarded that the patient had Area Postrema syndrome and tetraplegia clinic due to persistent vomiting and hiccups, and acute myelitis involvement, hence she was deemed as seronegative NMO and 2.5 mg/kg/day azathioprine was started. In 3rd month, she could be mobilized short distance without support in spontaneous respiration and muscle strength was proximal 4/5 distal frust paresis in all four extremities. Control examination at 6 months, 1 year and 2 years was normal, cranial MRI was within normal limits, and a regressive pale T2 hyperintense lesion at C3-C7 level was observed in cervical MRI. Discussion. Neuromyelitis optica is an immune-mediated, inflammatory, demyelinating disease that affects the optic nerves and spinal cord, with less persistent vomiting, hiccups, and symptomatic narcolepsy. It differs from multiple sclerosis in pathogenesis, biomarkers, imaging features, and response to treatment. Compared to MS, it consists of longitudinally extending spinal cord lesions that spans three or more segments. Although CSF OCD’s are a diagnostic mainstay in MS, AQP4-IgG is mainly produced outside of CSF, is not found in most patients with NMO, but it is known that positive OCDs do not exclude the diagnosis. The diagnosis of NMO of our patient was made based on the clinical findings of area postrema syndrome and the formation of transverse myelitis involving multiple segments of the spinal cord (from bulbus to c7) on MRI. Conclusion. We wanted to emphasize that AQP4-IgG negative and OCD Type-2 positivity, which meets the clinical and MRI criteria for neuromyelitis optica, can be observed together, and persistent vomiting and hiccup attacks can be linked to area postre","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139353737","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}
Omonova U.T., Okiljonova N.A., Shamsiddinova M.A., Pak A.A., Rashidova H.T.
Исследовательская работа основана на проспективном и ретроспективном наблюдении 95 пациентов с наследственной спастической параплегией (НСП), которые составили основную группу. Среди обследованных больных основной группы мальчиков было 58 (61%), девочек 37 (39%). Средний возраст в основной группе составлял 7,8±0,48 лет. У всех больных были жалобы на слабость конечностей разной степени, нарушение походки. Возрастная градация пациентов составила от 2 лет до 15 лет. При изучении родословных больных с НСП в 34 случаях брак был родственным, что составило 35,7%. Было выявлено, что в 48% случаев (27 семей) в семьях встречались больные с аналогическим заболеванием. При клинико-неврологическом осмотре больных с НСП нами выявлена, как и чистая спастическая параплегия, характеризующаяся только двигательными нарушениями (82,1%), так и спастическая параплегия с осложнениями (17,8%) в виде нарушений функции черепно-мозговых нервов, дисфункций тазовых органов (7,3%), судорог в анамнезе (5,2%), полиневропатий (11,5%), у 3х (3,1%) больных выявлено экстраневральные симптомы, т.е. врожденные изменения кожи в виде ихтиоза. У 2х пациентов неосложненной формой НСП проведено полногеномное секвенирования в гене SPAST/SPG4, в обоих случаях выявлено гомозиготное носительство патогенных аутосомно-доминантных мутаций chr2:32369901CAT>C и c.1617-105Т>С в кодирующей области гена SPG4 в 15 экзоне, ответственного за синтез белка спастина в нервной системе.
{"title":"КЛИНИЧЕСКИЕ И МОЛЕКУЛЯРНОГЕНЕТИЧЕСКИЕ АСПЕКТЫ НАСЛЕДСТВЕННОЙ СПАСТИЧЕСКОЙ ПАРАПЛЕГИИ ШТРЮМПЕЛЯ В УЗБЕКИСТАНЕ","authors":"Omonova U.T., Okiljonova N.A., Shamsiddinova M.A., Pak A.A., Rashidova H.T.","doi":"10.28942/nnj.v2i22.333","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.333","url":null,"abstract":"Исследовательская работа основана на проспективном и ретроспективном наблюдении 95 пациентов с наследственной спастической параплегией (НСП), которые составили основную группу. Среди обследованных больных основной группы мальчиков было 58 (61%), девочек 37 (39%). Средний возраст в основной группе составлял 7,8±0,48 лет. У всех больных были жалобы на слабость конечностей разной степени, нарушение походки. Возрастная градация пациентов составила от 2 лет до 15 лет. При изучении родословных больных с НСП в 34 случаях брак был родственным, что составило 35,7%. Было выявлено, что в 48% случаев (27 семей) в семьях встречались больные с аналогическим заболеванием. При клинико-неврологическом осмотре больных с НСП нами выявлена, как и чистая спастическая параплегия, характеризующаяся только двигательными нарушениями (82,1%), так и спастическая параплегия с осложнениями (17,8%) в виде нарушений функции черепно-мозговых нервов, дисфункций тазовых органов (7,3%), судорог в анамнезе (5,2%), полиневропатий (11,5%), у 3х (3,1%) больных выявлено экстраневральные симптомы, т.е. врожденные изменения кожи в виде ихтиоза. У 2х пациентов неосложненной формой НСП проведено полногеномное секвенирования в гене SPAST/SPG4, в обоих случаях выявлено гомозиготное носительство патогенных аутосомно-доминантных мутаций chr2:32369901CAT>C и c.1617-105Т>С в кодирующей области гена SPG4 в 15 экзоне, ответственного за синтез белка спастина в нервной системе.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73618098","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}
Uşağın inkişaf göstəricilərinə yalnız tibbi-bioloji və prenatal dəyişikliklər deyil, həmçinin hansı mühitdə böyüməsi, davranışı, ailə münasibətləri hansı dövrdə müvafiq bacarıqların əldə edilməsi kimi faktlar da təsir edir və uşağın sosiallaşmasında əsas yer tutur. Bu göstəricilər bir-biri ilə sıх əlaqədardir və hər hansı birində qüsur olduqda inkişaf çətinliyi formalaşır. Uşağın inkişafını qiymətləndirərkən prenatal və tibbi-bioloji anamnezdən başqa pediatr həmçinin uşağın yaşına uyğun bacarıqları və ətraf sosial faktorları da nəzərə almalı və kompleks şəkildə qiymətləndirməlidir. Tibbi-psiхoloji yardımın qeyri-düzgün təşkili, хüsusilə də erkən yaş dövründə, uşaq əhalisinin ümumi хəstəlik və əlillik faizini artırmış olur.
{"title":"Erkən yaşlı uşaqlarda inkişaf çətinliklərinin aşkarlanması","authors":"Qasanov А.I., Quliyeva Z.M., Asgerova R.R.","doi":"10.28942/nnj.v2i22.335","DOIUrl":"https://doi.org/10.28942/nnj.v2i22.335","url":null,"abstract":"Uşağın inkişaf göstəricilərinə yalnız tibbi-bioloji və prenatal dəyişikliklər deyil, həmçinin hansı mühitdə böyüməsi, davranışı, ailə münasibətləri hansı dövrdə müvafiq bacarıqların əldə edilməsi kimi faktlar da təsir edir və uşağın sosiallaşmasında əsas yer tutur. Bu göstəricilər bir-biri ilə sıх əlaqədardir və hər hansı birində qüsur olduqda inkişaf çətinliyi formalaşır. Uşağın inkişafını qiymətləndirərkən prenatal və tibbi-bioloji anamnezdən başqa pediatr həmçinin uşağın yaşına uyğun bacarıqları və ətraf sosial faktorları da nəzərə almalı və kompleks şəkildə qiymətləndirməlidir. Tibbi-psiхoloji yardımın qeyri-düzgün təşkili, хüsusilə də erkən yaş dövründə, uşaq əhalisinin ümumi хəstəlik və əlillik faizini artırmış olur.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85690935","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}
We studied blood samples of identical twins who are girls suspicious of the lysosome metabolic disease. For diagnostics goal we used New Generation Sequencing – NGS method and diagnostic amplicon panel. Diagnostic panel represents primers for the following diseases: Krabbe disease, mucopolysaccharidosis Type II (Hanter disease), Niemann-Pick disease, mucopolysaccharidosis Type IV (Morquio disease), Fabry disease, multiple sulfatase deficit, Gaucher disease, gangliosidase, mucopolysaccharidosis Type 1 (Gurler disease), mucopolysaccharidosis Type VII (Leya disease), and juvenile Parkinson disease. In studied material when analyzing GALC gene with molecular-genetic methods there was substitution of one nucleotide fragment GTCAG of c.1834 in intron 15 with another nucleotide fragment AGTCAC and that was identified (c.1834 GTCAG>AGTCAC). There is no information about this mutation in the world scientific literature. This is for the first time that this mutation of GALC gene was found in Azerbaijani children.
我们研究了怀疑患有溶酶体代谢病的同卵双胞胎的血液样本。为了实现诊断目标，我们使用了新一代测序（NGS）方法和诊断扩增片段。诊断面板包含以下疾病的引物：克拉伯病、粘多糖病 II 型（汉特病）、尼曼-皮克病、粘多糖病 IV 型（莫基奥病）、法布里病、多重硫酸酯酶缺乏症、戈谢病、神经节苷脂酶、粘多糖病 1 型（古勒病）、粘多糖病 VII 型（莱亚病）和幼年帕金森病。用分子遗传学方法分析 GALC 基因时，发现内含子 15 中 c.1834 的一个核苷酸片段 GTCAG 被另一个核苷酸片段 AGTCAC 取代（c.1834 GTCAG>AGTCAC）。世界科学文献中没有关于这一突变的信息。这是首次在阿塞拜疆儿童中发现这种 GALC 基因突变。
{"title":"GENETIC STUDY OF KRABBE LYSOSOME METABOLIC DISEASE","authors":"G.B. Latifova, A. K. Mammadbayli, E.M. Rasulov","doi":"10.61788/njn.v2i22.09","DOIUrl":"https://doi.org/10.61788/njn.v2i22.09","url":null,"abstract":"We studied blood samples of identical twins who are girls suspicious of the lysosome metabolic disease. For diagnostics goal we used New Generation Sequencing – NGS method and diagnostic amplicon panel. Diagnostic panel represents primers for the following diseases: Krabbe disease, mucopolysaccharidosis Type II (Hanter disease), Niemann-Pick disease, mucopolysaccharidosis Type IV (Morquio disease), Fabry disease, multiple sulfatase deficit, Gaucher disease, gangliosidase, mucopolysaccharidosis Type 1 (Gurler disease), mucopolysaccharidosis Type VII (Leya disease), and juvenile Parkinson disease. In studied material when analyzing GALC gene with molecular-genetic methods there was substitution of one nucleotide fragment GTCAG of c.1834 in intron 15 with another nucleotide fragment AGTCAC and that was identified (c.1834 GTCAG>AGTCAC). There is no information about this mutation in the world scientific literature. This is for the first time that this mutation of GALC gene was found in Azerbaijani children.","PeriodicalId":18831,"journal":{"name":"NATIONAL JOURNAL OF NEUROLOGY","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139356643","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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