Pediatric Hematology Oncology Journal最新文献

Curative hematopoietic stem cell transplantation in a child with specific granule deficiency due to a homozygous SMARCD2 variant 为一名因同源 SMARCD2 变异而患有特异性颗粒缺乏症的儿童实施治愈性造血干细胞移植手术

Pediatric Hematology Oncology Journal Pub Date : 2024-11-09 DOI: 10.1016/j.phoj.2024.11.103

Janaki Menon , Revathi Raj , Shiny Padinjarayil Manakkad , Athulya Edavazhippurath , Priya Saravanan , Anjit Unnikrishnan , Ramya Uppuluri , Sheena Othayoth Kandy , Shammy Saphia , Kalpana George , Dhananjayan Dhanasooraj , Geeta Madathil Govindaraj

{"title":"Curative hematopoietic stem cell transplantation in a child with specific granule deficiency due to a homozygous SMARCD2 variant","authors":"Janaki Menon , Revathi Raj , Shiny Padinjarayil Manakkad , Athulya Edavazhippurath , Priya Saravanan , Anjit Unnikrishnan , Ramya Uppuluri , Sheena Othayoth Kandy , Shammy Saphia , Kalpana George , Dhananjayan Dhanasooraj , Geeta Madathil Govindaraj","doi":"10.1016/j.phoj.2024.11.103","DOIUrl":"10.1016/j.phoj.2024.11.103","url":null,"abstract":"<div><h3>Background</h3><div>Children with recurrent, severe infections that respond poorly to treatment are likely to have an underlying inborn error of immunity.</div></div><div><h3>Case Report</h3><div>A three-year-old male child of non-consanguineous parentage presented with recurrent severe infections from the neonatal period, including abscesses, pneumonia, diarrhea, meningitis, cystitis, and pyelonephritis. The child had subtle dysmorphic features. The dihydro rhodamine assay was abnormal, and the peripheral smear showed hypogranular, hypolobated neutrophils. Clinical exome sequencing revealed a homozygous variant in the SMARCD2 gene, confirming the diagnosis of specific granule deficiency 2. The child underwent a haploidentical hematopoietic transplant and is asymptomatic five months post-transplant. Conditioning chemotherapy included rabbit anti-thymocyte globulin/treosulphan/thiotepa/fludarabine. The CD34 dose infused was 15 x 10<sup>6</sup>/kilogram recipient body weight. The infused product was TCR alpha/beta and CD19 depleted with preserved TCR gamma/delta cells.</div></div><div><h3>Conclusion</h3><div>This case demonstrates that although ultra-rare inborn errors of immunity are often diagnosed by next-generation sequencing, simple hematological and immunological tests provide valuable clues. Timely hematopoietic stem cell transplantation is curative.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 311-314"},"PeriodicalIF":0.0,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Signet cell carcinoma of the colon in an 11-year-old child: A case report and review of literature 一名 11 岁儿童的结肠信号细胞癌：病例报告和文献综述

Pediatric Hematology Oncology Journal Pub Date : 2024-10-31 DOI: 10.1016/j.phoj.2024.10.155

Pragya Singh , Lekshmi R , Sweety Gupta , Ravi Roushan Kumar , Shreyosi Mandal , Mridul Khanna , Satya Sree Balija , Ravi Hari Phulware , Manoj Gupta

{"title":"Signet cell carcinoma of the colon in an 11-year-old child: A case report and review of literature","authors":"Pragya Singh , Lekshmi R , Sweety Gupta , Ravi Roushan Kumar , Shreyosi Mandal , Mridul Khanna , Satya Sree Balija , Ravi Hari Phulware , Manoj Gupta","doi":"10.1016/j.phoj.2024.10.155","DOIUrl":"10.1016/j.phoj.2024.10.155","url":null,"abstract":"<div><h3>Background</h3><div>Colon cancer is uncommon in children. This article reports a case of signet ring cell carcinoma in an 11-year-old child who presented with acute intestinal obstruction.</div></div><div><h3>Case report</h3><div>An 11-year-old boy presented with progressive abdominal distension associated with constipation. The child underwent an abdominal X-ray in the erect position which revealed dilated bowel loops. Contrast enhanced computed tomography abdomen reported circumferential thickening involving 3.5 cm of the mid-transverse colon. The child underwent exploratory laparotomy which revealed mid transverse colon tumor. Tumor was resected with side-to-side anastomosis. Postoperative histopathology showed signet ring cell carcinoma. He was started on adjuvant chemotherapy.</div></div><div><h3>Conclusion</h3><div>Surgery followed by adjuvant chemotherapy is the modality of treatment colorectal carcinoma. There are no screening guidelines available for the pediatric age group, however early diagnosis through colonoscopy screening can be considered to improve the prognosis.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 307-310"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Updates in the diagnosis and management of hemolytic anemias 溶血性贫血诊断和管理的最新进展

Pediatric Hematology Oncology Journal Pub Date : 2024-10-05 DOI: 10.1016/j.phoj.2024.09.006

Jagdish Chandra, Pooja Dewan

引用次数: 0

Meigs syndrome, pseudo-Meigs syndrome, or pseudo-pseudo Meigs syndrome? A case report 梅格斯综合征、假梅格斯综合征还是假-假梅格斯综合征？病例报告

Pediatric Hematology Oncology Journal Pub Date : 2024-09-24 DOI: 10.1016/j.phoj.2024.09.004

Azie Jumaatul Adawiyah Nabir , Chiew Yee Lau , Adilah W. Ab Rahim , Aliyyah Mohammad Khuzaini

{"title":"Meigs syndrome, pseudo-Meigs syndrome, or pseudo-pseudo Meigs syndrome? A case report","authors":"Azie Jumaatul Adawiyah Nabir , Chiew Yee Lau , Adilah W. Ab Rahim , Aliyyah Mohammad Khuzaini","doi":"10.1016/j.phoj.2024.09.004","DOIUrl":"10.1016/j.phoj.2024.09.004","url":null,"abstract":"<div><h3>Background</h3><div>Meigs syndrome, pseudo-Meigs syndrome, and pseudo-pseudo-Meigs syndrome showcase a diagnostic challenge in the management of complex pediatric cases.</div></div><div><h3>Case report</h3><div>We report a case of a 6-year-old girl who presented with progressive breathlessness, lethargy, and constipation for two weeks, associated with multiple episodes of joint pain and polymorphous rash. Imaging of the thorax, abdomen, and pelvis suggested bilateral pleural effusion, ascites, and an ovarian mass with abdominal involvement. The pleural and peritoneal fluids were exudative in nature. Unfortunately, she was not fit for a biopsy of the mass and was treated in the intensive care unit for one month. She was initiated on oral corticosteroids for suspicion of an underlying auto-inflammatory disease. However, subsequent investigations yielded inconclusive results. She gradually recovered and was well for a year. She presented again with constitutional symptoms and was diagnosed with diffuse large B-cell lymphoma (DLBCL). Thus, it was retrospectively apparent that this was a case of pseudo-Meigs syndrome.</div></div><div><h3>Conclusion</h3><div>We describe an unusual presentation of DLBCL with a temporary resolution of symptoms.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 289-293"},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical outcomes of restrictive versus liberal blood transfusion strategies in critical care children: A systematic review and meta-analysis of randomized controlled trials 危重症儿童限制性输血策略与自由输血策略的临床结果：随机对照试验的系统回顾和荟萃分析

Pediatric Hematology Oncology Journal Pub Date : 2024-09-16 DOI: 10.1016/j.phoj.2024.09.005

Nabeel Al-Yateem , Fatma Refaat Ahmed , Seyed Aria Nejadghaderi

{"title":"Clinical outcomes of restrictive versus liberal blood transfusion strategies in critical care children: A systematic review and meta-analysis of randomized controlled trials","authors":"Nabeel Al-Yateem , Fatma Refaat Ahmed , Seyed Aria Nejadghaderi","doi":"10.1016/j.phoj.2024.09.005","DOIUrl":"10.1016/j.phoj.2024.09.005","url":null,"abstract":"<div><h3>Background</h3><div>The published experience with restrictive and liberal blood transfusion approaches in pediatric intensive care units (ICUs) is not extensive. We investigated the outcomes of restrictive compared to liberal transfusion strategies in critically ill children.</div></div><div><h3>Methods</h3><div>A search was conducted on PubMed, Embase, Scopus, and the Web of Science until February 16, 2024. The first 300 results from Google Scholar and records from the <span><span>clinicaltrials.gov</span><svg><path></path></svg></span> registry were manually screened. Backward and forward citation searches were also performed. We included randomized controlled trials examining outcome measures of children aged <18 years admitted to the ICUs who received restrictive methods for blood transfusion compared with the liberal one.</div></div><div><h3>Results</h3><div>Ten studies were included, with a pooled sample size of 2736. Half (50.8 %) were males; age ranged from 2.5 days to 73.7 months. The restrictive transfusion strategy significantly decreased the risk of nosocomial infections (risk ratio: 0.64; 95 % confidence interval: 0.42, 0.96) and also reduced hemoglobin levels (standardized mean difference: −2.92; 95 % CI: −4.48, −1.35), while there were no significant changes between these blood transfusion strategies in terms of death, safety or adverse events, duration of hospital and ICU stay, and other measures, such as length of hospital and ICU stay, hematocrit, serum lactate, and serum ferritin levels. Quality assessment indicated that most studies had some concerns (n = 7), and others had high (n = 2) or low (n = 1) risk of bias.</div></div><div><h3>Conclusions</h3><div>Restrictive transfusion strategy is safe and effective for critically ill children.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 297-306"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Human adenovirus infection with secondary hemophagocytic lymphohistiocytosis in immunocompromised children in clusters from South India 南印度免疫力低下儿童集群感染人类腺病毒并继发嗜血细胞淋巴组织细胞增多症

Pediatric Hematology Oncology Journal Pub Date : 2024-09-12 DOI: 10.1016/j.phoj.2024.09.001

Sudeep Gaddam, Sivaram Ragavan, Dhaarani Jayaraman, Padmasani Venkat Ramanan, Padma Srikanth, Shuba Sankaranarayanan, Latha M. Sneha, Julius Xavier Scott

引用次数: 0

Juvenile myelomonocytic leukemia masquerading as Langerhans cell histiocytosis: An immuno-morphologic dilemma 伪装成朗格汉斯细胞组织细胞增生症的幼年髓单核细胞白血病：免疫形态学难题

Pediatric Hematology Oncology Journal Pub Date : 2024-09-10 DOI: 10.1016/j.phoj.2024.09.002

Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole

{"title":"Juvenile myelomonocytic leukemia masquerading as Langerhans cell histiocytosis: An immuno-morphologic dilemma","authors":"Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole","doi":"10.1016/j.phoj.2024.09.002","DOIUrl":"10.1016/j.phoj.2024.09.002","url":null,"abstract":"<div><h3>Background</h3><p>Non-neoplastic, reactive proliferation of Langerhans cells is observed in leukemias, pseudo-lymphomas, carcinomas, etc. Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm with a few overlapping clinical features to Langerhans cell histiocytosis (LCH). JMML involving the lymph nodes may show the proliferation of Langerhans cells.</p></div><div><h3>Case report</h3><p>A two year old boy presented with fever, hepatosplenomegaly and elevated total leukocyte count with monocytosis. Bone marrow revealed dysplasia in erythroids and myeloids. Axillary lymph node showed sheets of macrophages in sinuses and paracortical areas (S100, CD68 and CD 1a positive) admixed with eosinophils, mimicking LCH. Molecular analysis revealed somatic heterozygous, missense mutation in PTPN11 exon 3, a known pathogenic hot spot mutation in JMML.</p></div><div><h3>Conclusion</h3><p>The treatment and prognosis of JMML and LCH are different. JMML may have a clinical and morphological overlap with LCH and hence can be misdiagnosed. This paper highlights the similarities and differences between the two diseases with a case illustration.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 267-270"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000767/pdfft?md5=43f40bbf610c4051192f16e37e3244aa&pid=1-s2.0-S2468124524000767-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Mucor thriving on iron in beta thalassemia major: A case of rhino-orbital mucormycosis 重型地中海贫血症患者的黏菌血症：一例鼻眶粘孢子菌病

Pediatric Hematology Oncology Journal Pub Date : 2024-09-10 DOI: 10.1016/j.phoj.2024.09.003

Dhaarani Jayaraman , Harshavardhan Mahalingam , Naga Geetha Rani Mangam , Swati Narasimhan , Padmasani Venkat Ramanan , K. Stephen Sudhakar , Prasanna Kumar S , Banu Keerthana , Manu Vidhya Harikumar , Anupama Jyoti Kindo , T.K. Shruthi , Niranjan Ragavan , Julius Xavier Scott

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Editorial Board Information 编辑委员会信息

Pediatric Hematology Oncology Journal Pub Date : 2024-09-01 DOI: 10.1016/S2468-1245(24)00069-X

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Prenatally detected adrenal immature teratoma: A case report and review of literature 产前发现的肾上腺未成熟畸胎瘤：病例报告和文献综述

Pediatric Hematology Oncology Journal Pub Date : 2024-08-29 DOI: 10.1016/j.phoj.2024.08.004

Nishkala Rao , Amrit Kaur , Arunkumar A.R. , Prakruthi S.K. , Vinay Jadhav , Suma M.N.

引用次数: 0