In the Department of Paediatric Hematology and Oncology (University School of Medicine in Wrocław) 25 patients, 1 to 19 years old, 8 boys and 17 girls, suffering from germ cell tumors were treated from June 1989 to August 1998. In the course of the treatment both surgery, chemotherapy and radiotherapy were used. The level of oncological markers: alpha-fetoprotein (AFP), lactic dehydrogenase (LDH), carcinoembryonal antigen (CEA), beta-choriongonadotropin (beta-HCG) and CA 125 was examined at the beginning, during the therapy, and at the end of the treatment. Increased levels of oncological markers were found: AFP in 17 children, LDH in 10 children, CEA in 3 children, beta-HCG in 3 children and CA 125 in 2 children. In all cases the level of AFP was decreasing during the therapy. Normal levels of AFP and LDH were observed in children with complete remission. The use of AFP in diagnostics and monitoring of germ cell tumors was proved.
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Zielińska M, Matusiak Ł, Gołębiowski W, et al. Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2018;35(2):217-221. doi:10.5114/ada.2018.75247. APA Zielińska, M., Matusiak, Ł., Gołębiowski, W., Swiątek, K., Chlebicka, I., & Maj, J. et al. (2018). Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 35(2), 217-221. https://doi.org/10.5114/ada.2018.75247 Chicago Zielińska, Marzena, Łukasz Matusiak, Waldemar Gołębiowski, Katarzyna Swiątek, Iwona Chlebicka, Joanna Maj, and Jacek Szepietowski. 2018. "Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 35 (2): 217-221. doi:10.5114/ada.2018.75247. Harvard Zielińska, M., Matusiak, Ł., Gołębiowski, W., Swiątek, K., Chlebicka, I., Maj, J., and Szepietowski, J. (2018). Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 35(2), pp.217-221. https://doi.org/10.5114/ada.2018.75247 MLA Zielińska, Marzena et al. "Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 35, no. 2, 2018, pp. 217-221. doi:10.5114/ada.2018.75247. Vancouver Zielińska M, Matusiak Ł, Gołębiowski W, Swiątek K, Chlebicka I, Maj J et al. Toxic epidermal necrolysis in an 8-year-old girl successfully treated with cyclosporin A, intravenous immunoglobulin and plasma exchange. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2018;35(2):217-221. doi:10.5114/ada.2018.75247.
The purpose of the present work was estimation of liver function using the phenazone test and commonly used biochemical tests in children with acute lymphoblastic leukemia (ALL) during anticancer treatment.Observations were carried out in the same 21 patients with ALL before the beginning of chemotherapy, after Protocol I and after Protocol M of the antileukemic treatment carried out according to the program BFM 86.The applied chemotherapy inhibited phenazone elimination. Both phenazone half-life and metabolic clearance rate were significantly different in patients after treatment with anticancer drugs, especially with high-dose of methotrexate (MTX), from those in patients before the beginning of chemotherapy (p < 0.001). Moreover, after MTX administration transaminases activity and serum bilirubin concentration were significantly higher than before treatment (p < 0.05).Our results showed that in children with acute lymphoblastic leukemia, anticancer chemotherapy decreased liver metabolic capacity. Particularly, high-dose methotrexate treatment altered the elimination of phenazone by inhibiting the activity of hepatic mixed function oxidase system. This change may lead to an increase in toxicity of active drugs which are metabolized by this enzyme system. In addition, altered activity of liver metabolic function can impair transformation of prodrugs to active forms. It should be considered in selection of individual drug dosages. The objective estimation of the type and degree of liver dysfunction can only be achieved by the combination of a quantitative phenazone dynamic test and static biochemical tests.
Between April 1994 and December 1999, 34 children aged from 5 to 20 years (23 females and 11 males) suffering from osteosarcoma, were treated according to the SFOP-94 protocol. The primary preoperative chemotherapy consists of adriamycin and high-dose methotrexate administration. There were 28 patients with non-metastatic tumours of the extremities and 6 children presented disseminated disease with pulmonary metastases. The primary localization included femur - 20 patients, tibia - 9 patients and humerus - 5 patients. In 26 patients limb-salvage surgery was applied. The programme of chemotherapy was changed in 4 children because of toxicity of methotrexate (1 patient) and progression of disease (3 patients). 26 out of 34 (76,5 %) children are alive including 24 out of 28 patients with localized disease. EFS calculated according to Kaplan-Meier analysis was 60 % at 67 months.
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5–14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease (NARS1 and DCAF5). R-WES proved to be an effective diagnostic tool for critically ill infants in ICUs suspected of having a genetic disorder. It also should be considered as a first-tier test after precise clinical description. The quickly obtained diagnosis impacts patient’s medical management, and families can receive genetic counseling.
Heterotaxia (HTX) is a heterogeneous group of laterality defects characterized by abnormal discordance of asymmetric thoracic and abdominal organs. Esophageal anomalies occur rarely in HTX cases although additional defects associated with esophageal atresia are common. We report on a rare case of a neonate with HTX and multiple congenital malformations as well as specific facial dysmorphism, corresponding only to a few cases described in literature. Clinical examination of the proband revealed esophageal atresia with distal tracheoesophageal fistula, anal atresia, abdominal situs inversus, dextrocardia with complex congenital heart defect and left lung agenesis. A complex genetic analysis revealed no genetic abnormalities. Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology.
Oesophageal atresia is a congenital defect of alimentary tract concerning the interruption of oesophagus with or without connection with the trachea. Its incidence is 1:3000-3500 of live-born. Associated anomalies including genetic disorders occur in 50% of patients. Edwards syndrome which is trisomy of chromosome 18 with poor prognosis. The incidence of Edwards syndrome is 1:5000 of live-born. About 5% of these children live more than 1 year. The aim of this article is a retrospective analysis of the course of treatment of newborn with oesophageal atresia and Edwards syndrome and making of therapeutic decision. The authors from different medical specializations: clinical genetics, paediatric surgery, paediatrics and neonatology, paediatric intensive care and palliative medicine, have undertaken a discussion regarding surgical treatment of children with oesophageal atresia and chromosomal, lethal syndrome.
Between December 1989 and April 1998 twenty eight children aged from 5 to 20 years (18 female and 10 male) suffering from osteosarcoma were treated according to the OS-SFOP-94 protocol. Twenty four patients presented with localized tumor of extremities and four with pulmonary metastases. The majority of primary tumors exceeded 150 ml of volume. The primary preoperative chemotherapy consisted of adriamycin (70 mg/m2 every four weeks) and high-dose methotrexate (12 g/m2 every week). In 20 patients limb-salvage surgery was applied, in three children--amputation and in one child tibia resection with genu arthrodesis was applied. Five of 28 patients died, one because of treatment related infection, 2 non-responders with metastatic osteosarcoma due to progressive disease, and one because of local relapse with pulmonary metastasis non-responding to therapy, one because of treatment refusal. Twenty one from 25 children are alive from 5 to 51 months. Event frae survival of children with localized disease calculated according to Kaplan-Meier analysis was 64.17% in the 51st month. The main cause of failure in the treatment of osteosarcoma in children is primary and secondary progression of disease. The toleration and results of treatment for osteosarcoma in children according to the OS-SFOP-94 is satisfactory.
