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Beta thalassemia syndromes:New insights

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World Journal of Clinical Cases 2025年第10期13卷 1-8页

作者： Ana Dordevic Ines Mrakovcic-Sutic Sonja Pavlovic Milena Ugrin jelena roganovic Department of Business Development Jadran Galenski LaboratorijRijeka 51000Croatia Faculty of Medicine University of RijekaRijeka 51000Croatia Institute of Molecular Genetics and Genetic Engineering University of BelgradeBelgrade 11000Serbia Department of Pediatric Hematology and Oncology Children’s Hospital ZagrebZagreb 10000Croatia Faculty of Biotechnology and Drug Development University of RijekaRijeka 51000Croatia

Beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the *** hallmarks of the disease include ineffective erythropoiesis,chronic hemolytic anemia,and iron *** presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating *** management of patients with severeβ-thalassemia represents a global health problem,particularly in low-income *** recently,management strategies were limited to regular transfusions and iron chelation therapy,with allogeneic hematopoietic stem cell transplantation available only for a subset of *** understanding of the underlying pathophysiological mechanisms ofβ-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options,including pharmacologic enhancers of effective erythropoiesis and gene therapy.

关键词： Beta thalassemia Hemoglobin Molecular defects Ineffective erythropoiesis Hemolysis Transfusion Iron chelation Novel therapies

Parenteral iron therapy in children with iron deficiency anemia

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World Journal of Clinical Cases 2024年第13期12卷 2138-2142页

作者： jelena roganovic Department of Pediatric Hematology and Oncology Children’s Hospital Zagreb10000 ZagrebCroatia Faculty of Biotechnology and Drug Development University of RijekaRijeka 51000Croatia

Iron deficiency anemia(IDA)continues to be a global public health *** iron is the universally accepted first-line therapy,and most children have a prompt and favorable response to oral *** subsets of children who fail to respond due to intolerance,poor adherence,or inadequate intestinal absorption,parenteral iron is *** numerous studies in adults with IDA of diverse etiologies,pediatric studies on parenteral iron use are very *** mostly retrospective and small,these studies have documented the efficacy and safety profile of intravenous iron *** this editorial the author comments on the most important published data and underscores the need to seriously consider parenteral iron use in children unresponsive to oral therapy.

关键词： Anemia Iron deficiency Intravenous iron Iron deficiency anemia Children

Genetic predisposition to childhood cancer

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World Journal of Clinical Pediatrics 2024年第3期13卷 4-10页

作者： jelena roganovic Department for Pediatric Oncology and Hematology Children's Hospital ZagrebZagreb 10000Croatia Faculty of Biotechnology and Drug Development University of RijekaRijeka 51000Croatia

The etiology of childhood cancer remains largely *** evidence suggests that genetic factors play a substantial role in pediatric *** adult cancers,pediatric cancers typically have a higher prevalence of germline pathogenic variants in cancer predisposition *** cancer predisposition syndromes account for approximately 10%of all childhood *** the years,the diagnosis of cancer predisposition syndromes was based on clinical suspicion prompting referral to a specialized ***,advances in molecular technologies have led to a shift toward a“genotypefirst”*** of genetic variants related to cancer predisposition enables tailored treatment,improves clinical outcome,optimizes surveillance,and facilitates genetic counseling of the affected child and the family.

关键词： Cancer Children Etiology Genetics Cancer predisposition syndromes

Panhypopituitarism caused by a suprasellar germinoma: A case report

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World Journal of Clinical Cases 2024年第10期12卷 1844-1850页

作者： jelena roganovic Lea Saric Silvije Segulja Ana Dordevic Mia Radosevic Department of Pediatrics Clinical Hospital Centre RijekaRijeka 51000Croatia Faculty of Medicine University of RijekaRijeka 51000Croatia Faculty of Health Sciences University of RijekaRijeka 51000Croatia Department of Business Development Jadran Galenski LaboratorijRijeka 51000Croatia

BACKGROUND Suprasellar germinomas are rare intracranial tumors frequently associated with permanent endocrine *** present the clinical picture,treatment,and complications of suprasellar germinoma at pediatric age which,besides being lifethreatening,has lifelong endocrinological *** SUMMARY A 12-year-old female patient was presented having had intensive headaches for three weeks and visual disturbances for six *** ophthalmological examination revealed bilateral papilledema and a marked loss of *** brain magnetic resonance imaging(MRI)showed a suprasellar tumor,involving the infundibulum and the optic chiasm,extending to the third *** tests confirmed decreased levels of thyroxine,cortisol,gonadotropins,and insulin-like growth factor *** tumor reduction was performed,and immunohistopathology established the diagnosis of suprasellar *** of the spine and cerebrospinal fluid cytology confirmed the localized *** chemotherapy and radiotherapy were performed according to the SIOP CNS GCT II protocol.A post-treatment MRI showed no residual tumor,but pituitary function had not *** and a half years after the end of the treatment,the patient is in a complete remission,requiring hormonal replacement therapy,continuous education,and psychological *** This complex case highlights the importance of timely diagnosis,a multidisciplinary approach,and close follow-up in children with suprasellar germinomas.

关键词： Germinoma Germ cell tumor Suprasellar tumor Hypopituitarism Management Pediatrics Case report