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Indian Journal of Pediatrics最新文献

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The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance. 大化妆舞会赖氨酸蛋白不耐受症的各种表现。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-05-04 DOI: 10.1007/s12098-024-05124-y
Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, J P Meena, S K Kabra, Madhulika Kabra, Neerja Gupta
{"title":"The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.","authors":"Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, J P Meena, S K Kabra, Madhulika Kabra, Neerja Gupta","doi":"10.1007/s12098-024-05124-y","DOIUrl":"10.1007/s12098-024-05124-y","url":null,"abstract":"<p><p>Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"70-72"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854576","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
Episodic Dystonia in an Infant with Spastic Paraplegia Type 11. 一名 11 型痉挛性截瘫婴儿的发作性肌张力障碍。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-30 DOI: 10.1007/s12098-024-05318-4
Singanamalla Bhanudeep, Bramhini Bhargavi Koneti
{"title":"Episodic Dystonia in an Infant with Spastic Paraplegia Type 11.","authors":"Singanamalla Bhanudeep, Bramhini Bhargavi Koneti","doi":"10.1007/s12098-024-05318-4","DOIUrl":"10.1007/s12098-024-05318-4","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"101"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545191","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
MedEClasses- Basic Pediatric Endocrinology: Anurag Bajpai (ed.) : Published by MedEClasses Publications, Kanpur, India; 2nd Edition; 2024; Pages: 365; Price: ₹ 3500. MedEClasses- 基础儿科内分泌学：Anurag Bajpai (ed.) ：由印度坎普尔 MedEClasses 出版社出版；第 2 版；2024 页：365; 价格: ₹ 3500.
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-28 DOI: 10.1007/s12098-024-05331-7
Rajni Sharma
{"title":"MedEClasses- Basic Pediatric Endocrinology: Anurag Bajpai (ed.) : Published by MedEClasses Publications, Kanpur, India; 2nd Edition; 2024; Pages: 365; Price: ₹ 3500.","authors":"Rajni Sharma","doi":"10.1007/s12098-024-05331-7","DOIUrl":"10.1007/s12098-024-05331-7","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"107"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739234","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
Atypical Presentation of Distal Renal Tubular Acidosis in a Child. 儿童远端肾小管酸中毒的非典型表现
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-25 DOI: 10.1007/s12098-024-05307-7
Akanksha, Sayan Banerjee, Anju Bala, Sunil Kushwah, Lesa Dawman, Jaivinder Yadav
{"title":"Atypical Presentation of Distal Renal Tubular Acidosis in a Child.","authors":"Akanksha, Sayan Banerjee, Anju Bala, Sunil Kushwah, Lesa Dawman, Jaivinder Yadav","doi":"10.1007/s12098-024-05307-7","DOIUrl":"10.1007/s12098-024-05307-7","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"97"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499379","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
Musculoskeletal Brucellosis Masquerading as a Pediatric Hematological Malignancy. 伪装成小儿血液恶性肿瘤的肌肉骨骼布鲁氏菌病
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-30 DOI: 10.1007/s12098-024-05315-7
Akshat Gupta, Priyanka Gaikwad, Kapil Jetha, Ravi Kumar
{"title":"Musculoskeletal Brucellosis Masquerading as a Pediatric Hematological Malignancy.","authors":"Akshat Gupta, Priyanka Gaikwad, Kapil Jetha, Ravi Kumar","doi":"10.1007/s12098-024-05315-7","DOIUrl":"10.1007/s12098-024-05315-7","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"102"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545194","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
LPIN1-related Acute Rhabdomyolysis Mimicking Landry Guillain-Barré Syndrome in a Child: Correspondence. 模仿兰德里吉兰-巴雷综合征的儿童LPIN1相关急性横纹肌溶解症通信。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-31 DOI: 10.1007/s12098-024-05316-6
Prateek Kumar Panda, Indar Kumar Sharawat
{"title":"LPIN1-related Acute Rhabdomyolysis Mimicking Landry Guillain-Barré Syndrome in a Child: Correspondence.","authors":"Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1007/s12098-024-05316-6","DOIUrl":"10.1007/s12098-024-05316-6","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"103"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557734","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
Myelin Oligodendrocyte Glycoprotein Antibody Disease - MOGAD. 髓鞘少突胶质细胞糖蛋白抗体病 - MOGAD。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-06 DOI: 10.1007/s12098-024-05326-4
Vykuntaraju K Gowda, Girish Kumar, Uddhava V Kinhal, Anita Mahadevan
{"title":"Myelin Oligodendrocyte Glycoprotein Antibody Disease - MOGAD.","authors":"Vykuntaraju K Gowda, Girish Kumar, Uddhava V Kinhal, Anita Mahadevan","doi":"10.1007/s12098-024-05326-4","DOIUrl":"10.1007/s12098-024-05326-4","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"89"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583078","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
Update on Cannabidiol in Drug-Resistant Epilepsy. 大麻二酚治疗耐药性癫痫的最新进展。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-11-25 DOI: 10.1007/s12098-024-05337-1
Akanksha Singh, Priyanka Madaan, Dipika Bansal
{"title":"Update on Cannabidiol in Drug-Resistant Epilepsy.","authors":"Akanksha Singh, Priyanka Madaan, Dipika Bansal","doi":"10.1007/s12098-024-05337-1","DOIUrl":"10.1007/s12098-024-05337-1","url":null,"abstract":"<p><p>Cannabidiol (CBD) has arisen as a promising therapeutic option for children with drug-resistant epilepsy (DRE). CBD has received regulatory nod from different regulatory authorities in the United States, Europe, and India for children with DRE particularly, Dravet syndrome (DS), Lennox Gastaut syndrome (LGS), and Tuberous sclerosis complex (TSC). Recent clinical trials and observational studies highlight the potential of CBD to lower seizure frequency and provide better quality of life in children affected by these disorders. The safety profile is generally favorable with minor common adverse events such as somnolence, diarrhea, and gastrointestinal issues. Furthermore, the expense associated with CBD remains a notable concern, especially in low- and middle-income countries such as India, where access to this promising treatment may be constrained. This draws attention to the cost-effective perspective of CBD. This review aims to explore the pharmacological properties of CBD, its mechanisms of action, and the clinical evidence supporting its use in various pediatric epilepsies, including LGS, DS, and TSC. Additionally, this review sheds light on the current regulatory landscape in India where CBD use is still in its nascent stages, and discusses the challenges and opportunities for integrating CBD into clinical practice.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"61-69"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710040","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
Vitamin B12 Deficiency: An Under-Addressed Community Health Problem. 维生素 B12 缺乏症：一个未得到充分解决的社区健康问题。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-09-05 DOI: 10.1007/s12098-024-05257-0
Nitin Dhochak, Rakesh Lodha
{"title":"Vitamin B12 Deficiency: An Under-Addressed Community Health Problem.","authors":"Nitin Dhochak, Rakesh Lodha","doi":"10.1007/s12098-024-05257-0","DOIUrl":"10.1007/s12098-024-05257-0","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"3-4"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132614","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
Antimicrobial Resistance in the PICU: Incidence; Characteristics and Clinical Outcomes. 重症监护病房的抗菌药耐药性：发生率、特征和临床结果。
IF 2.1 4区 医学
Indian Journal of Pediatrics Pub Date : 2025-01-01 Epub Date: 2024-10-28 DOI: 10.1007/s12098-024-05304-w
Jhuma Sankar, Sharan Thangaraju, Sarita Mohapatra, Rakesh Lodha
{"title":"Antimicrobial Resistance in the PICU: Incidence; Characteristics and Clinical Outcomes.","authors":"Jhuma Sankar, Sharan Thangaraju, Sarita Mohapatra, Rakesh Lodha","doi":"10.1007/s12098-024-05304-w","DOIUrl":"10.1007/s12098-024-05304-w","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"96"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499378","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
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