Article
Endocrinology & Metabolism
Huahong Wu, Yang Li, Hui Li
Summary: This study analyzed the prevalence of BDA3 in children with short stature and its effect on GH therapy. The results showed that BDA3 is more common in the short stature group, with a predominance in females. BDA3 occurrence is independent of the GH pathway and does not affect the therapeutic effect of GH on short stature children.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Ana-Belen Ariza-Jimenez, Isabel Leiva Gea, Maria Jose Martinez-Aedo Ollero, Juan Pedro Lopez-Siguero
Summary: The study found that patients with isolated growth hormone deficiency (IGHD) and idiopathic short stature (ISS) who received growth hormone treatment had similar final heights, with treated groups being taller than untreated groups.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Jong Seo Yoon, Young Jun Seo, Eun Byul Kwon, Hye Jin Lee, Min Jae Kang, Il Tae Hwang
Summary: This study evaluated the association between serum UA levels and height SDS in patients with ISS during GH therapy. The results showed a positive correlation between UA and height SDS, and GH treatment led to a significant increase in UA levels.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Hyun Wook Chae, Il-Tae Hwang, Ji-Eun Lee, Cheol Hwan So, Young-Jun Rhie, Jung Sub Lim, Eun Byul Kwon, Kyung Hee Yi, Eun Young Kim, Chae-Ku Jo, Kye Shik Shim, Ha-Yeong Gil, Min-Jeong Seong, Chung Mo Nam, Ji-Su Moon, Jin Soon Hwang
Summary: This study aimed to investigate the height development of ISS patients in Korea who received GH treatment. The study found that starting treatment at an early age and using automatic pen or electronic devices can increase the likelihood of reaching the target height.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
G. Akin Kagizmanli, D. Ozalp Kizilay, O. Besci, K. Yuksek Acinikli, S. Ozen, K. Demir, R. D. Goksen Simsek, E. Bober, S. Darcan, A. Abaci
Summary: This study evaluated the effects of combined AI and rhGH therapy for 1 year in adolescent males with GHD. The results showed that using AIs in addition to rhGH treatment can slow down bone age maturation in boys with GHD, and the therapy was found to be safe during the observation period.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
Martin O. Savage, Helen L. Storr
Summary: Idiopathic short stature (ISS) is a term used for short children without a known cause; research on GH resistance is important for potentially misclassified children with mild GH resistance.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pediatrics
Yaping Ma, Ruofan Jia, Bingyang Xia, Bin Tang, Zhuangjian Xu
Summary: This study demonstrates that the combination of growth hormone and letrozole can enhance adult height in pubertal boys with short stature, without significant side effects.
Article
Endocrinology & Metabolism
Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew, Vivian Hwa, Philippe Backeljauw
Summary: This study aimed to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy for linear growth in children with ACAN deficiency. The results showed that rhGH treatment improved linear growth in these patients and no adverse events related to rhGH were observed.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Willem Staels, Nuriya Alev, Isabelle Maystadt, Olimpia Chivu, Jean De Schepper, Claudine Heinrichs, Dominique Beckers
Summary: This study is the first case series of complete heterozygous IGF7 deletions in children. The specific genetic defects provide a clear image of the phenotype of IGF7 haploinsufficiency - unbiased by heterozygous mutations with possible dominant negative effects on IGF-I function. We increase the evidence for IGF7 haploinsufficiency as a cause of short stature, microcephaly, and SGA.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Hilde Dotremont, Annick France, Claudine Heinrichs, Sylvie Tenoutasse, Cecile Brachet, Martine Cools, Kathleen De Waele, Guy Massa, Marie-Christine Lebrethon, Inge Gies, Jesse Van Besien, Christine Derycke, Mathieu Ziraldo, Jean De Schepper, Veronique Beauloye, Stijn Verhulst, Raoul Rooman, Marieke den Brinker
Summary: This study aimed to evaluate the safety and efficacy of combined treatment with growth hormone (GH) and gonadotropin releasing hormone agonist (GnRHa) in early pubertal girls with a poor predicted adult height (PAH), compared to matched controls. The results showed that the combination treatment resulted in a significant increase in adult height (AH) compared to historical controls, indicating its potential effectiveness and safety for improving height in pubertal girls.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pediatrics
Tal Ben-Ari, Gabriel Chodick, Varda Shalev, Dalit Goldstein, Roy Gomez, Zohar Landau
Summary: A decade-long study in Israel assessed growth hormone treatment patterns and outcomes, finding that most treated children were males with a height standard deviation score of -2.36 and an average age of 9.8 years at initiation. The study also revealed that the mean treatment period was 3.5 years, with good adherence declining over time.
FRONTIERS IN PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Summary: The genetic etiology of short stature in children with diagnosed growth hormone deficiency (GHD) was studied. It was found that the primary cause of short stature in these children was growth plate disorders, not deficiency in growth hormone.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Pediatrics
Varuna Vyas, Ram K. Menon
Summary: Growth hormone (GH) plays a crucial role in somatic growth and height increase in children. Its recombinant form has increased availability for treatment, but should only be used for established and approved indications. Before treatment, families should be counseled on treatment goals, costs, and potential adverse effects.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Lukas Plachy, Petra Dusatkova, Klara Maratova, Lenka Petruzelkova, Lenka Elblova, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Dana Zemkova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Summary: Collagens, the most abundant proteins in the human body, can cause syndromic disorders such as short stature when gene defects occur. Collagenopathies were found in 11.5% of familial short stature children, with improvements in growth velocity and height observed after GH treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A. Metherell, Martin O. Savage, Helen L. Storr
Summary: Genetic characterization of 149 short stature patients suspected of Growth Hormone Insensitivity (GHI) revealed diagnoses in 54% of cases, with 56% having known GH-IGF-I axis defects and 44% having other genetic disorders. This highlights the diverse etiology of GHI and the importance of detailed clinical and genetic assessment in undiagnosed short stature cases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Richa Jain, Prema Menon, Deepak Bansal, Nandita Kakkar, Srinivasan Radhika, K. L. N. Rao, Amita Trehan
Summary: Carboplatin is increasingly recommended for treating childhood GCT due to its lower long-term toxicity and similar efficacy to cisplatin. In a low middle-income country, a retrospective analysis of GCT patients over 10 years showed comparable overall survival between carboplatin and cisplatin-based regimens, indicating the feasibility and safety of using carboplatin in this setting.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2022)
Letter
Pediatrics
Pritam Singha Roy, Aravind Sekar, Prema Menon, Deepak Bansal
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Pathology
Neha Bhardwaj, Manish Rohilla, Amita Trehan, Deepak Bansal, Nandita Kakkar, Radhika Srinivasan
Summary: Risk stratification according to the International Neuroblastoma Risk Group (INRG) is crucial for managing neuroblastoma. This retrospective study evaluated various parameters, including Mitosis Karyorrhexis Index (MKI), International Neuroblastoma Pathology Classification (INPC) morphological category, and MYCN amplification, in fine needle aspiration biopsy (FNAB) samples of neuroblastoma patients. The findings highlight the importance of FNAB in diagnosing and risk stratifying neuroblastoma.
JOURNAL OF CLINICAL PATHOLOGY
(2023)
Letter
Oncology
Saswati Behera, Jai K. Mahajan, Deepak Bansal
PEDIATRIC BLOOD & CANCER
(2022)
Article
Oncology
Achanya Palayullakandi, Amita Trehan, Richa Jain, Rajender Kumar, Bhagwant Rai Mittal, Rakesh Kapoor, Radhika Srinivasan, Nandita Kakkar, Deepak Bansal
Summary: The study retrospectively analyzed the outcome of using the Euronet PHL-C1 protocol for treating Hodgkin lymphoma in India. The results showed that the OEPA/COPDAC regimen and PET-CT assessment allowed for therapy reduction, including radiotherapy. However, treatment-related mortality and febrile neutropenia were concerning issues.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2022)
Article
Oncology
Vinay Munikoty, Kushaljit Singh Sodhi, Anmol Bhatia, Prateek Bhatia, Savita Verma Attri, Manoj K. Rohit, Amita Trehan, Niranjan Khandelwal, Deepak Bansal
Summary: This study found that childhood cancer survivors with serum ferritin levels >1,000 ng/ml had elevated liver iron concentration. The number of red-cell units transfused and duration from the last transfusion were associated with elevated serum ferritin and liver iron concentration.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Oncology
Pritam Singha Roy, Vinay Munikoty, Amita Trehan, Richa Jain, Prateek Bhatia, Shano Naseem, Neelam Varma, Deepak Bansal
Summary: This retrospective study examines the treatment outcomes of childhood acute promyelocytic leukemia (APL) in a single center in India over a 17-year period. The study reveals that early mortality remains a barrier to excellent survival in childhood APL, but there has been a significant reduction in treatment abandonment in recent years.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Hematology
Ritika Sharma, Manu Jamwal, Namrata Singh, Prashant Sharma, Deepak Bansal, Amita Trehan, Pankaj Malhotra, Arihant Jain, Jasmina Ahluwalia, Reena Das, Narender Kumar
Summary: This study aimed to investigate the molecular defects underlying FXIII deficiency and found that the inherited FXIII deficiency with bleeding is associated with genetic defects in predominantly the F13A1 gene. A variety of variants were observed in this cohort, providing important data for functional studies and antenatal testing in affected families.
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
(2023)
Editorial Material
Pediatrics
Srinivasan Peyam, Deepak Bansal
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Ritu Aggarwal, Madhulika Sharma, Usha Singh, Kay Poulton, Tanvi Bhatia, Navdeep Mangat, Nandita Kakkar, Deepak Bansal
Summary: This study aimed to explore the role of KIR/HLA polymorphism in the pathogenesis of retinoblastoma. By genotyping KIR genes and investigating HLA ligands in retinoblastoma patients and controls, it was found that KIR2DS4*FUL and KIR2DS5 were associated with susceptibility to retinoblastoma, while KIR3DS1/HLA-BW4 had a protective role.
OPHTHALMIC GENETICS
(2023)
Article
Hematology
Nisha Duggal, Namrata Singh, Suchet Sachdev, Avinash Kumar Singh, Jasbir Kaur Hira, Sanjeev Chhabra, Deepak Bansal, Pankaj Malhotra, Neelam Varma, Reena Das, Prashant Sharma
Summary: Genetic testing for inherited erythrocytosis often involves laborious exon-by-exon gene panel testing or expensive next-generation sequencing. A study in north Indian erythrocytosis patients found a high prevalence (61%) of the Chuvash polycythemia mutation. This study assessed the use of PCR-RFLP for VHL c.598C > T mutation as a first-line test in 99 individuals with JAK2 V617F-negative, unexplained erythrocytosis. The results suggest that PCR-RFLP for VHL c.598C > T mutation may be an effective initial genetic screening method for unexplained congenital erythrocytosis in regions where Chuvash polycythemia is common.
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
(2023)
Article
Pediatrics
Surendra Babu Gundluru, Pritam Singha Roy, Manisha Biswal, Amita Trehan, Jasleen Kaur, Pallab Ray, Deepak Bansal
Summary: This prospective study examined the use of surveillance stool culture (SSC) in febrile neutropenia (FN) in children with acute leukemia. The study found a prevalence of 17.5% multidrug-resistant organisms (MDRO) in the first SSCs, but no correlation between MDRO colonization and mortality. MDRO colonization did not predict MDRO sepsis, bloodstream infection, or mortality. Therefore, SSC was found to be ineffective in guiding antibiotic choice for FN in children with acute leukemia.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Editorial Material
Pediatrics
Srinivasan Peyam, Deepak Bansal
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Oncology
Pritam Singha Roy, Safal Muhammed, Usha Singh, Sameeksha Gowravajhala, Richa Jain, Amita Trehan, Deepak Bansal
Summary: Access to intra-arterial chemotherapy for retinoblastoma is limited in low- and middle-income countries. This study compared the efficacy of standard versus higher dose carboplatin-based intravenous chemotherapy for advanced intraocular retinoblastoma in group D and E.
PEDIATRIC BLOOD & CANCER
(2023)
Review
Oncology
Sidharth Totadri, Deepak Bansal, Sarah S. Donaldson, Odion Binitie, Lisa Teot, Abha A. Gupta, Sapna Oberoi
Summary: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma among children and adolescents. Treatment involves risk stratification based on clinicopathological characteristics and requires collaboration between multiple disciplines. Clinicians in low- and middle-income countries face challenges such as disease heterogeneity, molecular testing, evolving treatment regimens, and limited resources. This review aims to bring together experts from various fields to address common questions in managing RMS in these settings.
PEDIATRIC BLOOD & CANCER
(2023)