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“It Affects Everything about Me”: Sleep Problems among Children with Cerebral Palsy and Their Caregivers in Ile-Ife—A Mixed-Methods Study “它影响着我的一切”:在ile - life -一项混合方法研究中,脑瘫儿童及其照顾者的睡眠问题
Q4 PEDIATRICS Pub Date : 2023-09-29 DOI: 10.1055/s-0043-1772211
Oluwatosin E. Olorunmoteni, Joan I. Akande, Toluwani E. Babalola, Abiodun Kareem, Temiloluwa Taiwo Oyetoke, Champion Seun-Fadipe
Abstract Background Sleep problems are common in children with cerebral palsy (CWCP). However, the effect of sleep problems in CWCP on caregivers has not been well studied. We aimed to describe the sleep problems in CWCP and their caregivers, and explore the effect of the children's sleep on the caregivers' sleep. Methods This cross-sectional, mixed-methods research was conducted at a pediatric neurology clinic in Ile-Ife, Nigeria. The Sleep Disturbance Scale for Children (SDSC) and Pittsburgh Sleep Quality Index (PSQI) were used for assessing sleep problems of the children and their caregivers, respectively. We held three focused group discussions (FGDs) involving 18 caregivers using a pretested FGD guide. We analyzed the quantitative data using Stata-15 software, while qualitative data were transcribed and managed using ATLAS.ti Software. Results We studied 71 CWCP–caregiver dyads and 69 age- and sex-matched controls. There was a male preponderance for CWCP (M:F = 1.09:1) and female preponderance for caregivers (89.5%). Sleep disturbances (SDSC > 40) occurred in 34% of CP children and poor sleep quality was seen in 39% of caregivers. When compared with age- and sex-matched typically developing peers, there was a statistically significant higher sleep disturbance in CWCP (p = 0.009). Sleep difficulties in the CWCP comprise sleep–wake transition disorders (45.0%), difficulty initiating sleep (43.3%), and sleep breathing disorders (37.5%). Caregivers experienced short sleep duration. One mother said: “It affects my sleep, health, and work. It affects everything about me.” Conclusion Sleep problems in CWCP affect the well-being of their caregivers. Interventions targeted at both the children and their caregivers are needed.
摘要背景:睡眠问题在脑瘫儿童(CWCP)中很常见。然而,睡眠问题对护理人员的影响尚未得到很好的研究。本研究旨在探讨儿童睡眠对护理人员睡眠的影响,并探讨儿童睡眠对护理人员睡眠的影响。方法在尼日利亚Ile-Ife的一家儿科神经病学诊所进行了这项横断面混合方法研究。采用儿童睡眠障碍量表(SDSC)和匹兹堡睡眠质量指数(PSQI)分别评估儿童及其照顾者的睡眠问题。我们举行了三次焦点小组讨论(FGD),涉及18名护理人员使用预先测试的FGD指南。定量数据采用Stata-15软件进行分析,定性数据采用ATLAS进行转录和管理。ti的软件。结果我们研究了71名cwcp护理者和69名年龄和性别匹配的对照组。CWCP以男性为主(M:F = 1.09:1),照顾者以女性为主(89.5%)。睡眠障碍(SDSC;40)发生在34%的CP儿童中,39%的照顾者睡眠质量差。与年龄和性别匹配的典型发育同伴相比,CWCP的睡眠障碍有统计学意义上的显著增加(p = 0.009)。CWCP患者的睡眠困难包括睡眠-觉醒转换障碍(45.0%)、入睡困难(43.3%)和睡眠呼吸障碍(37.5%)。护理人员的睡眠时间较短。一位母亲说:“这会影响我的睡眠、健康和工作。它影响了我的一切。”结论CWCP患者的睡眠问题影响其照顾者的健康。需要针对儿童及其照料者的干预措施。
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引用次数: 0
A Rare Occurrence of Demyelinating Lesions of Bilateral Trigeminal Nerves: An Atypical Presentation of Pediatric Multiple Sclerosis 罕见的双侧三叉神经脱髓鞘病变:小儿多发性硬化症的非典型表现
Q4 PEDIATRICS Pub Date : 2023-09-19 DOI: 10.1055/s-0043-1772574
Elia Manfrini, Ludovica Falcioni, Vanna Cavassa, Eleonora Cocco, Stefano Sotgiu, Luca Saba
Abstract Pontine trigeminal root entry zone is a typical, although uncommon, location for multiple sclerosis (MS) lesions to occur. Here, we present a 17-year-old girl with nausea, vomiting, and vertigo. Neurological examination was consistent with central nystagmus, positive Romberg's test, and left-sided hyperreflexia. Baseline magnetic resonance imaging fulfilled McDonald 2017 criteria for MS and showed T2-hyperintense and T1-hypointense bilateral demyelinating lesions at the intramedullary portion of the trigeminal root of the fifth nerve, with no contrast enhancement or restricted diffusion. Bilateral intrapontine trigeminal involvement is a rare finding in MS, as well as the combined central and peripheral demyelination. Furthermore, very limited information and cases have been described in pediatric patients.
摘要:脑桥三叉神经根进入区是多发性硬化症(MS)病变发生的典型部位,但并不常见。在这里,我们报告一位17岁的女孩,她有恶心、呕吐和眩晕。神经学检查符合中枢性眼球震颤,Romberg试验阳性,左侧反射亢进。基线磁共振成像符合McDonald 2017的MS标准,显示双侧第5神经三叉根髓内部t2高、t1低的脱髓鞘病变,无造影剂增强或弥散受限。双侧脑膜内三叉神经受累在多发性硬化症中是一个罕见的发现,以及合并中央和周围脱髓鞘。此外,在儿科患者中描述的信息和病例非常有限。
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引用次数: 0
Progressive Encephalomyelitis with Rigidity and Myoclonus with an Aggressive Presentation Mimicking Septic Shock: A Pediatric Case Report and Literature Review 进行性脑脊髓炎伴强直和肌阵挛,表现为感染性休克:1例儿科病例报告及文献回顾
Q4 PEDIATRICS Pub Date : 2023-06-05 DOI: 10.1055/s-0043-1769478
Samuel C.S. Ho, K. Y. Leung, Grace S.F. Ng, W. L. Yiu, Eric K.C. Yau, N. C. Fong
Abstract Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a relapsing–remitting neurological disorder that falls within the stiff person syndrome–spectrum disorders. We report a 16-year-old girl with PERM associated with an anti-glutamic acid decarboxylase (GAD) antibody. She had an aggressive initial presentation mimicking fulminant septic shock, followed by truncal and lower limb rigidity, stimulus-sensitive spasm, cognitive impairment, brainstem signs (hyperekplexia, nystagmus), and dysautonomia (urinary retention, constipation, facial flushing, blood pressure fluctuation). Cerebrospinal fluid, electroencephalography, and magnetic resonance imaging of the brain and spine showed features suggestive autoimmune encephalitis and myelitis. The serum anti-GAD antibody was positive, and the diagnosis of PERM was made. She had fluctuating clinical response despite intravenous immunoglobulin, steroids, plasmapheresis, and symptomatic medications. Eventually, in the fourth month since admission, she showed gradual and persistent clinical improvement after introducing rituximab. She was discharged after 6 months of hospitalization, and no relapse was observed in the first 3 years of follow-up. PERM is a rare and underrecognized condition in children. Contrary to previous reports, our case describes an aggressive and life-threatening presentation for PERM. Vague symptoms and the lack of gold diagnostic tests hinder a timely diagnosis. Our study also highlights the need for developing standardized diagnostic criteria and consensus in managing PERM.
进行性脑脊髓炎伴强直和肌阵挛(PERM)是一种复发缓解型神经系统疾病,属于僵硬者综合征谱系障碍。我们报告一个16岁的女孩PERM与抗谷氨酸脱羧酶(GAD)抗体相关。她有一个侵略性的初始表现,模仿暴发性感染性休克,随后出现躯干和下肢僵硬,刺激敏感痉挛,认知障碍,脑干体征(丛丛过度,眼球震颤)和自主神经异常(尿潴留,便秘,面部潮红,血压波动)。脑脊液、脑电图、脑和脊柱磁共振成像显示提示自身免疫性脑炎和脊髓炎的特征。血清抗gad抗体阳性,诊断为PERM。尽管静脉注射免疫球蛋白、类固醇、血浆置换和对症药物治疗,她的临床反应仍不稳定。最终,在入院后第4个月,患者在引入利妥昔单抗后临床逐渐持续改善。住院6个月后出院,随访3年无复发。PERM在儿童中是一种罕见且未被充分认识的疾病。与以前的报告相反,本病例描述了一种侵袭性和危及生命的PERM表现,症状模糊和缺乏黄金诊断测试阻碍了及时诊断。我们的研究还强调了在管理PERM方面制定标准化诊断标准和共识的必要性。
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引用次数: 0
Effect of Internalized Stigma on Peer Relationships in Adolescents with Attention-Deficit/Hyperactivity Disorder 内化耻感对注意缺陷/多动障碍青少年同伴关系的影响
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-06-02 DOI: 10.1055/s-0043-1772159
Tülay Yildirim Üşenmez, Gülbeyaz Baran Durmaz, F. Budak
Abstract This study aimed to determine the effect of internalized stigma on peer relationships in adolescents with attention-deficit/hyperactivity disorder (ADHD). The study was conducted in a Special Education and Rehabilitation Center between August and September 2022. The correlational and cross-sectional study sample consisted of 70 adolescents with ADHD. The Descriptive Characteristics Form, the Internalized Stigma Scale for Children and Adolescents, and the Peer Relationship Scale were used to collect the data. It was determined that the mean total score of internalized stigma levels of adolescents was 93.24 (16.16), and the mean total score of peer relationships was 53.78 (10.76). It was determined that there was a strong negative correlation between the total score of internalized stigma and peer relationships ( r  = − 0.748, p  = 0.001). In addition, it was determined that internalized stigma predicted peer relationships by 55%. It can be said that internalized stigma and peer relationships of adolescents are moderate, and as adolescents' internalized stigma levels increased, their peer relationships decreased.
摘要本研究旨在探讨内化污名对青少年注意缺陷多动障碍(ADHD)同伴关系的影响。这项研究于2022年8月至9月在一家特殊教育和康复中心进行。相关和横断面研究样本包括70名患有多动症的青少年。采用描述性特征表、儿童青少年内化污名量表和同伴关系量表收集数据。结果显示,青少年内化污名水平平均总分为93.24分(16.16分),同伴关系平均总分为53.78分(10.76分)。内化污名总分与同伴关系呈显著负相关(r = - 0.748, p = 0.001)。此外,内化污名预测同伴关系的比例为55%。可以说,青少年内化污名对同伴关系的影响是适度的,随着青少年内化污名水平的增加,青少年的同伴关系会减少。
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引用次数: 0
Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder 1例FBXO11相关疾病患者的颅内MRI表现
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-25 DOI: 10.1055/s-0043-1772491
Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz
Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.
FBXO11相关智力发育障碍伴畸形相和行为异常是一种罕见的遗传性疾病。与这种疾病相关的脑磁共振成像(MRI)发现在文献中很少有描述。本病例报告描述并描述了FBXO11相关疾病患者的脑MRI。本报告中的放射学发现旨在提高放射科医生和临床医生对这种罕见疾病的认识。
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引用次数: 0
Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome 保加利亚一例超罕见Alazami-Yuan综合征患者TAF6基因致病性变异
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-22 DOI: 10.1055/s-0043-1772575
S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova
Abstract We present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.
我们提出一个15岁的女孩,参考遗传分析基于临床证据的智力残疾和畸形特征与未知的病因。经基因检测,先证者被诊断为Alazami-Yuan综合征(ALYUS)。ALYUS是一种罕见的常染色体隐性遗传病,其特征是发育迟缓、智力残疾、语言障碍和先天性异常。对1610个与智力残疾和畸形特征相关的基因进行了全基因组测序和靶向分析。在TAF6基因中鉴定出一个致病性纯合错义变异(NM_139315.3:c)。[12] [b] [C];这一发现以前曾在科学出版物中报道过,并在ALYUS患者中检测到。在表型上,无论个体性别如何,至少存在两种TAF6基因纯合或复合杂合状态的致病性变异,都会发生ALYUS。迄今为止,已报告了来自4个家庭的7名患者。据我们所知,我们的先证者是第一个与ALYUS在欧洲,特别是在保加利亚个人。明确患者的遗传诊断为家庭提供了精确的遗传咨询,使医生能够对先证者的治疗采取适当的措施,并为未来后代的疾病预防提供了选择。
{"title":"Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome","authors":"S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova","doi":"10.1055/s-0043-1772575","DOIUrl":"https://doi.org/10.1055/s-0043-1772575","url":null,"abstract":"Abstract We present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"57 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86942687","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}
引用次数: 0
A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency 1型戊二酸尿神经退化的罕见可治并发症:维生素B12缺乏
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-21 DOI: 10.1055/s-0043-1771353
V.K. Gowda, Asha Shamnur, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane
Abstract Introduction  Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed glutaric aciduria type 1 children. Case  Here we present the case of a 6-month-old male infant with glutaric aciduria type 1 diagnosed based on clinical, biochemical, radiological, and genetically confirmed case on therapy with homemade diet modification. The patient later developed regression of milestones at 16 months of age while on treatment with good compliance. On examination, pallor and hypopigmented sparse hair with knuckle hyperpigmentation were noted. Investigation revealed low vitamin B12 levels. On vitamin B12 supplementation, the child showed significant improvement. Conclusion  A reversible cause needs to be looked for in patients on dietary restriction and formula feeds treated for metabolic disorders.
1型戊二酸尿症是由于戊二酰辅酶a脱氢酶缺乏引起的一种罕见的可治疗的先天性代谢错误。限制性赖氨酸和色氨酸饮食可显著改善症状前诊断戊二酸尿症1型儿童的预后。我们报告一例6个月大的1型戊二酸尿症男婴,经临床、生化、放射学和遗传学证实,接受自制饮食调整治疗。患者后来在16个月大时出现里程碑消退,治疗依从性良好。检查时,注意到苍白和低色素稀疏的毛发,指关节色素沉着。调查显示维生素B12水平较低。补充维生素B12后,孩子表现出明显的改善。结论限制饮食和配方饲料治疗代谢紊乱患者需要寻找可逆的病因。
{"title":"A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency","authors":"V.K. Gowda, Asha Shamnur, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane","doi":"10.1055/s-0043-1771353","DOIUrl":"https://doi.org/10.1055/s-0043-1771353","url":null,"abstract":"Abstract Introduction  Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed glutaric aciduria type 1 children. Case  Here we present the case of a 6-month-old male infant with glutaric aciduria type 1 diagnosed based on clinical, biochemical, radiological, and genetically confirmed case on therapy with homemade diet modification. The patient later developed regression of milestones at 16 months of age while on treatment with good compliance. On examination, pallor and hypopigmented sparse hair with knuckle hyperpigmentation were noted. Investigation revealed low vitamin B12 levels. On vitamin B12 supplementation, the child showed significant improvement. Conclusion  A reversible cause needs to be looked for in patients on dietary restriction and formula feeds treated for metabolic disorders.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"9 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90010252","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}
引用次数: 0
Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns 早产儿和足月新生儿后颅窝出血的临床和神经影像学综合评价
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-02 DOI: 10.1055/s-0043-1771380
M. Hsu, Zahra Zhu, S. Islam, Ryan J Chang, Nouran H Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, G. Mainali, K. Thamburaj, S. Naik
Abstract Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe a case of PFH, and using this example, provide a comprehensive narrative review of the pathophysiology, risk factors, diagnosis, and management of PFH. Management may differ depending on the etiology and based on careful consideration of the risks and benefits of surgical versus conservative management.
摘要后窝出血(PFH)是早产儿和足月婴儿的一种高度病态的疾病。在这篇文章中,我们的目的是首先描述一个PFH病例,并通过这个例子,提供PFH的病理生理、危险因素、诊断和治疗的综合叙述回顾。治疗方法可能会因病因不同而不同,并基于对手术治疗与保守治疗的风险和益处的仔细考虑。
{"title":"Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns","authors":"M. Hsu, Zahra Zhu, S. Islam, Ryan J Chang, Nouran H Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, G. Mainali, K. Thamburaj, S. Naik","doi":"10.1055/s-0043-1771380","DOIUrl":"https://doi.org/10.1055/s-0043-1771380","url":null,"abstract":"Abstract Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe a case of PFH, and using this example, provide a comprehensive narrative review of the pathophysiology, risk factors, diagnosis, and management of PFH. Management may differ depending on the etiology and based on careful consideration of the risks and benefits of surgical versus conservative management.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"52 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83642527","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}
引用次数: 0
Effects of Hemogram Parameters on Remission Durations in Self-Limited Epilepsy with Centrotemporal Spikes 血流图参数对自限性癫痫伴中央颞叶尖峰缓解持续时间的影响
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-04-17 DOI: 10.1055/s-0043-1770080
Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, U. Yiş
Abstract The hemogram parameters have been extensively discussed in numerous diseases, including epilepsy, for their diagnostic and prognostic values. We aimed to investigate the impact of hemogram parameters, namely, the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) at the time of the first seizure on the remission durations of the patients with self-limited epilepsy with centrotemporal spikes (SeLECTS). This retrospective study was conducted on patients with SeLECTS with a minimum follow-up of 2 years. We assessed the hemogram parameters obtained from the venous blood samples collected from the patients upon admission. The duration of remission was categorized into two groups for further data analysis: those with a remission period less than 2 years and those with a remission period of more than 2 years. This study involved 122 patients with SeLECTS, of which 85% ( n  = 102) had remission durations of ≤2 years. The analysis revealed that patients with remission durations exceeding 2 years had a significantly higher median leukocyte ( p  = 0.009), neutrophil ( p  < 0.001), and platelet ( p  < 0.001) counts. Additionally, higher levels of NLR and PLR were observed in patients with longer-term remission ( p  < 0.001). However, there were no significant differences between the two groups in terms of lymphocyte count, monocyte count, mean platelet volume, or LMR. Leukocyte, neutrophil, platelet, NLR, and PLR counts have shown potential as predictive indicators of remission times in patients with SeLECTS. Neurologists can potentially find value in these easily accessible parameters when evaluating the future trajectory of patients with SeLECTS.
由于其诊断和预后价值,血象参数在包括癫痫在内的许多疾病中得到了广泛的讨论。我们的目的是研究首次发作时的血象参数,即中性粒细胞与淋巴细胞比值(NLR)、血小板与淋巴细胞比值(PLR)和淋巴细胞与单核细胞比值(LMR)对伴有中央颞叶尖刺(SeLECTS)的自限性癫痫患者缓解持续时间的影响。这项回顾性研究对select患者进行了至少2年的随访。我们评估了从患者入院时收集的静脉血样本中获得的血象参数。为了进一步的数据分析,将缓解期分为两组:缓解期小于2年的和缓解期大于2年的。该研究纳入了122例select患者,其中85% (n = 102)的缓解期≤2年。分析显示,缓解持续时间超过2年的患者白细胞(p = 0.009)、中性粒细胞(p < 0.001)和血小板(p < 0.001)计数中位数明显较高。此外,在长期缓解的患者中观察到更高水平的NLR和PLR (p < 0.001)。然而,两组在淋巴细胞计数、单核细胞计数、平均血小板体积或LMR方面没有显著差异。白细胞、中性粒细胞、血小板、NLR和PLR计数已显示出作为select患者缓解时间的预测指标的潜力。神经学家在评估select患者的未来发展轨迹时,可以从这些容易获得的参数中找到潜在的价值。
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引用次数: 0
Infantile Tremor Syndrome: A Case Series 婴儿震颤综合征:一个病例系列
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-04-04 DOI: 10.1055/s-0043-1769479
A. Saoji, S. Save, S. Rastogi
Abstract Infantile tremor syndrome (ITS) is a rare clinical disorder characterized by coarse tremors, anemia, and regression/delay of development in children around 6 months to 1 year of age belonging to poor socioeconomic strata and on milk-based diet. It accounts for 0.2 to 2% cases in India. No conclusive etiology has been ascertained so far. Nutritional deficiency (like vitamin B12, magnesium, vitamin C, zinc) is the most accepted association. We report six such cases that presented to our hospital with the classical neurological, dermatological, and hematological findings of ITS. Investigations revealed all cases to be vitamin B12 deficient. Two of our cases had corticocerebral atrophy on neuroimaging. One case expired due to respiratory failure due to severe pneumonia. Others were treated with vitamin B12 injections. Other nutrients like iron, zinc, folic acid, and magnesium were also supplemented. Routine follow-up of these cases showed gradual improvement in clinical, hematological, and neurological parameters. Although rare, ITS should be considered in any infant presenting with anemia, malnutrition, developmental delay, hyperpigmentation, and tremors. Early treatment can prevent neurological sequelae as it is largely a preventable disease. Regular follow-up is helpful to evaluate response to treatment.
婴幼儿震颤综合征(ITS)是一种罕见的临床疾病,其特征为剧烈震颤、贫血和发育倒退/延迟,发生在6个月至1岁左右,属于贫困社会经济阶层和以牛奶为基础的饮食。在印度,它占0.2%到2%的病例。迄今尚未确定确切的病因。营养缺乏(如维生素B12,镁,维生素C,锌)是最被接受的联系。我们报告了6例这样的病例,他们在本院表现为ITS的经典神经学、皮肤学和血液学表现。调查显示,所有病例都缺乏维生素B12。我们的两个病例在神经影像学上表现为皮质脑萎缩。1例因严重肺炎导致呼吸衰竭死亡。其他人则接受维生素B12注射治疗。其他营养物质如铁、锌、叶酸和镁也得到了补充。这些病例的常规随访显示临床、血液学和神经学参数逐渐改善。虽然罕见,但在任何出现贫血、营养不良、发育迟缓、色素沉着和震颤的婴儿中都应考虑ITS。早期治疗可以预防神经系统后遗症,因为它在很大程度上是一种可预防的疾病。定期随访有助于评价治疗效果。
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引用次数: 0
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Journal of pediatric neurology
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