Indian Journal of Pediatrics最新文献_第2页

Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies. 发育性和癫痫性脑病：弥合临床综合征与潜在遗传病因之间差距的必要性。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI: 10.1007/s12098-024-05308-6

Priyanka Srivastava, Chitra Bhardwaj, Kausik Mandal

{"title":"Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.","authors":"Priyanka Srivastava, Chitra Bhardwaj, Kausik Mandal","doi":"10.1007/s12098-024-05308-6","DOIUrl":"10.1007/s12098-024-05308-6","url":null,"abstract":"Advancement in genetic testing has become increasingly important in diagnosing and managing developmental and epileptic encephalopathies (DEEs), a group of rare neurodevelopmental disorders characterized by early-onset seizures, developmental delay, and electroencephalographic (EEG) abnormalities. These early epileptic encephalopathies are often described as various syndromes as per their clearly defined, relatively uniform, and distinct clinical phenotypes with consistent EEG and/or neuroimaging findings. Finding the underlying molecular mechanisms can cause a definitive change in the management strategy. With the evolving overlapping phenotypes, advent of technologies, and discovery of new genes, it is exceedingly becoming challenging to correctly characterise these disorders and plan subsequent evidence-based management. Cytogenetic microarray (CMA) and next generation sequencing (NGS) with improved data analysis pipe-lines and algorithms have revamped the diagnostic yield dramatically. However, as of now, there is a big lacuna in step-wise evaluation guideline or consensus on integration of genetic testing results with management plan. Understanding the genetic etiologies of such syndromes timely has three major implications: (1) Knowing the outcome of such a syndrome, (2) Therapeutic implications including licensing of drugs for certain forms (e.g. genetic syndromes involving ion channels) and (3) Genetic counseling, prenatal testing and choosing reproductive options in future pregnancies in such families. The focus of this review is to provide an understanding of different types of causative variants and their step-wise genetic testing approach; the most pressing clinical need and to develop an optimal diagnostic pathway for this group of patients.","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"52-60"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Levetiracetam versus Phenobarbitone for Management of Neonatal Seizures: A Systematic Review and Meta-analysis. 左乙拉西坦与苯巴比妥治疗新生儿癫痫：系统综述和荟萃分析。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2023-11-08 DOI: 10.1007/s12098-023-04905-1

Jogender Kumar, Bharti Yadav, Jitendra Meena, Jaivinder Yadav, Jitendra Kumar Sahu

{"title":"Levetiracetam versus Phenobarbitone for Management of Neonatal Seizures: A Systematic Review and Meta-analysis.","authors":"Jogender Kumar, Bharti Yadav, Jitendra Meena, Jaivinder Yadav, Jitendra Kumar Sahu","doi":"10.1007/s12098-023-04905-1","DOIUrl":"10.1007/s12098-023-04905-1","url":null,"abstract":"Objectives: To review whether levetiracetam is non-inferior to phenobarbitone as the first-choice antiseizure medication (ASM).Methods: The authors searched Medline, Embase, Web of Science, Scopus, and Cochrane Library for randomized controlled trials (RCTs) published until May 31, 2023. RCTs comparing the efficacy and safety of levetiracetam and phenobarbitone as first-line ASM in neonatal seizures were included. Random effects meta-analysis was performed, and the Risk of Bias version 2 tool was used for quality assessment.Results: Eleven RCTs enrolling 821 neonates [mostly term, with hypoxic-ischemic encephalopathy (HIE)] were included. There was no significant difference in seizure control between levetiracetam and phenobarbitone (10 RCTs, 786 participants; relative risk RR: 1.11; 95% CI: 0.79, 1.54; I2- 88%). Neonates in the levetiracetam group had a significantly lower incidence of hypotension (RR: 0.28; 95% CI: 0.09, 0.86), respiratory depression (RR: 0.36, 95% CI: 0.19, 0.66), and depressed sensorium (RR: 0.52, 95% CI: 0.27, 1.00). Three studies compared neurodevelopmental outcomes; however two of them were cross-over trials where infants received both drugs. Only one RCT enrolled pure cohorts and showed better neurodevelopment in the levetiracetam group at one month of age.Conclusions: With the limitation of very-low certainty evidence, the results of this systematic review suggest that levetiracetam may be non-inferior to phenobarbitone for managing neonatal seizures. Considering a better safety profile and marginally better neurodevelopment in the short term, levetiracetam may be considered an initial choice for managing neonatal seizures.Registration number: PROSPERO (CRD42023438018).","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"29-41"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71481066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fluid Overload in Critically Ill Children: Are We Fighting a Phantom? 重症儿童体液超负荷：我们是在与幻影战斗吗？

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-09-19 DOI: 10.1007/s12098-024-05270-3

Narayanan Parameswaran

引用次数: 0

Neurological Complication in an Adolescent with Type 1 Diabetes Mellitus and Celiac Disease. 一名患有 1 型糖尿病和乳糜泻的青少年的神经并发症。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-06 DOI: 10.1007/s12098-024-05325-5

Sairam Kasaiah, Aman Elwadhi, Rajendra Singh Mahiya, Smriti Rohatgi, Ruchi Mishra, Kanwaljeet Kaur

引用次数: 0

Complex Febrile Seizures: Usual and the Unusual. 复杂热性惊厥：通常与异常。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI: 10.1007/s12098-024-05301-z

Robyn Whitney, Debopam Samanta, Suvasini Sharma, Puneet Jain

{"title":"Complex Febrile Seizures: Usual and the Unusual.","authors":"Robyn Whitney, Debopam Samanta, Suvasini Sharma, Puneet Jain","doi":"10.1007/s12098-024-05301-z","DOIUrl":"10.1007/s12098-024-05301-z","url":null,"abstract":"Febrile seizures account for 2 to 14% of all childhood seizures, and one-third of febrile seizures are complex febrile seizures. Despite this, there is a lack of clinical equipoise in the diagnosis and management of complex febrile seizures and this results in significant practice variability amongst physicians. Although febrile seizures are generally noted to be benign phenomenon, complex febrile seizures carry the risk of subsequent epilepsy. Furthermore, long-term neurodevelopmental sequelae have been observed in some cohorts. The presence of both simple and complex febrile seizures have also been documented in sudden unexpected death in childhood cohorts, and there may be similarities in the underlying pathophysiology to sudden unexpected death in epilepsy. Finally, in some cases the presence of complex febrile seizures may herald the onset of a devastating developmental and epileptic encephalopathy (i.e., Dravet syndrome) or Febrile-Infection Related Epilepsy Syndrome (FIRES). In this narrative review the authors explore the current state of management of complex febrile seizures, their neurological sequelae and morbidity as well as rare epilepsy syndromes and conditions associated with them.","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"44-51"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Infantile-Onset Epilepsies: Steering Towards New Horizons. 婴儿期发病的癫痫：走向新视野。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-26 DOI: 10.1007/s12098-024-05327-3

Jitendra Kumar Sahu, Chellamani Harini

引用次数: 0

Acute Flaccid Paralysis Due to KCNJ16 Channelopathy. KCNJ16通道病变导致的急性弛缓性麻痹

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-29 DOI: 10.1007/s12098-024-05314-8

Preeti Joon, Pradeep Kumar Gunasekaran, Kandha Kumar Uk, Kuldeep Singh, Lokesh Saini

引用次数: 0

Thyroid Hormone Resistance Due to Thyroid Hormone Receptor Beta (THRB) Gene Mutation. 甲状腺激素受体 Beta (THRB) 基因突变导致的甲状腺激素抵抗。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-31 DOI: 10.1007/s12098-024-05313-9

Priyanka Gupta, Rajni Sharma, Vandana Jain

引用次数: 0

Restricted versus Usual/Liberal Maintenance Fluid Strategy in Mechanically Ventilated Children: An Open-Label Randomized Trial (ReLiSCh Trial). 机械通气儿童的限制性与常规/自由性维持液策略：一项开放标签随机试验（ReLiSCh试验）。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2023-10-18 DOI: 10.1007/s12098-023-04867-4

Shubham Charaya, Suresh Kumar Angurana, Karthi Nallasamy, Muralidharan Jayashree

{"title":"Restricted versus Usual/Liberal Maintenance Fluid Strategy in Mechanically Ventilated Children: An Open-Label Randomized Trial (ReLiSCh Trial).","authors":"Shubham Charaya, Suresh Kumar Angurana, Karthi Nallasamy, Muralidharan Jayashree","doi":"10.1007/s12098-023-04867-4","DOIUrl":"10.1007/s12098-023-04867-4","url":null,"abstract":"Objectives: To assess the impact of restricted vs. usual/liberal maintenance fluid strategy on fluid overload (FO) among mechanically ventilated children.Methods: This open-label randomized controlled trial was conducted over a period of 1 y (October 2020-September 2021) in a Pediatric intensive care unit (PICU) in North India. Hemodynamically stable mechanically ventilated children were randomized to 40% (restricted group, n = 50) and 70-80% (usual/liberal group, n = 50) of maintenance fluids. The primary outcome was cumulative fluid overload percentage (FO%) on day 7. Secondary outcomes were FO% >10%; vasoactive inotropic score, sequential organ failure assessment score, pediatric logistic organ dysfunction score and oxygenation index from day 1-7; ventilation free days (VFDs) and PICU free days (PFDs) through day 28; and mortality.Results: The restricted group had statistically non-significant trend towards lower cumulative FO% at day 7 [7.6 vs. 9.5, p = 0.40]; and proportion of children with FO% >10% (12% vs. 26%, p = 0.21) as compared to usual/liberal group. The increase in FO% from day 1-7 was significant in usual/liberal group as compared to restricted group (p <0.001 and p = 0.134, respectively). Restricted group received significantly lower amount of fluid in the first 5 d; had significantly higher VFDs (23 vs. 17 d, p = 0.008) and PFDs (19 vs. 15 d, p = 0.007); and trend towards lower mortality (8% vs. 16%, p = 0.21).Conclusions: Restricted as compared to usual/liberal maintenance fluid strategy among mechanically ventilated children was associated with a trend towards lower rate and severity of FO and mortality; and significantly lower fluid volume received, and higher VFDs and PFDs.","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"7-14"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41234975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

'Sad Man' Facies in a Preterm Neonate with Staphylococcal Scalded Skin Syndrome. 伴有葡萄球菌性皮肤烫伤综合征的早产新生儿的“悲伤男人”相。

IF 2.1 4区医学

Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2023-11-27 DOI: 10.1007/s12098-023-04953-7

Satya Prakash, Deepika Kainth

引用次数: 0