ABSTRACT
PURPOSE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems. Mutations in the TSC1 and TSC2 genes result in the constitutive hyperactivation of the mammalian target of rapamycin (mTOR) pathway, contributing to the growth of benign tumors or hamartomas in various organs. Due to the implication of mTOR pathway dysregulation in the disease pathology, increasing evidence supports the use of mTOR inhibitors for treating multiple manifestations of TSC. METHODS: In this study, we conducted a retrospective analysis of clinical findings and treatment data from 38 patients diagnosed with tuberous sclerosis who were followed up in the Pediatric Oncology Clinic between 2010 and 2020. We collected information on patients' ages, genders, affected sites, familial history, imaging findings, presence of tumors, and treatments. RESULTS: Among the patients, nine individuals with TSC manifestations were treated with mTOR inhibitors. Specifically, everolimus was successfully administered to five patients with inborn cardiac rhabdomyoma causing hemodynamic impairment. In addition, two patients with refractory seizures received everolimus in combination with anti-epileptic drugs. A patient with renal angiomyolipomas larger than 3 cm was treated with everolimus, while a patient with extensive facial angiofibroma received topical sirolimus. All patients tolerated the mTOR inhibitors well, and the side effects were deemed acceptable. CONCLUSION: The utilization of mTOR inhibition in TSC is expected to become more prevalent in clinical practice, as current research is anticipated to provide a better understanding of the therapeutic roles of these treatments in TSC.
Subject(s)
Everolimus , Tuberous Sclerosis , Child , Humans , Female , Male , Everolimus/therapeutic use , Tuberous Sclerosis/complications , Tuberous Sclerosis/drug therapy , Tuberous Sclerosis/genetics , MTOR Inhibitors , Retrospective Studies , TOR Serine-Threonine Kinases/genetics , TOR Serine-Threonine Kinases/metabolism , TOR Serine-Threonine Kinases/therapeutic use , Sirolimus/therapeutic useABSTRACT
Severe acute respiratory syndrome, coronavirus (SARS, COVID-19) has been declared a pandemic by the World Health Organization since March 2020. Patients with active cancer should be considered especially for priority access to the COVID-19 vaccine. Therefore, our study aimed to learn parents' opinions of cancer-diagnosed patients about the COVID-19 vaccine. Between December 2021 and January 2022, 76 people were willing to answer the questionnaire from the parents of outpatient/inpatient patients at the Pediatric Hematology and Oncology Clinic of Dr. Sami Ulus Obstetrics, Child Health and Diseases Education Research Hospital were included. In our study, 18 parents (23.7%) did not get vaccinated. Among the reasons for not getting vaccinated, the most common answer for "I fear from the vaccine's side effects.", "Do you think oncology patients are at risk for COVID-19?", "Do you think the COVID-19 pandemic affects cancer treatment?" were 90.7%, 89.5% and 21% yes, respectively. Would your opinion of the vaccine be positive if the domestic vaccine was produced?"-67.4% answered yes. Vaccine hesitation and public misinformation put cancer patients at risk. Increasing awareness of the rejection of COVID-19 vaccines is important for public health and the fight against the pandemic. In addition, the doctors' recommendations for conducting oncology treatment will significantly impact parents' compliance with the COVID-19 vaccine.
Subject(s)
COVID-19 , Drug-Related Side Effects and Adverse Reactions , Child , Female , Pregnancy , Humans , COVID-19 Vaccines/therapeutic use , COVID-19/prevention & control , Pandemics , Medical Oncology , Vaccination , ParentsABSTRACT
In children with ß-thalassemia (ß-thal) trait, tissue damage occurs with oxidative stress due to oxygen free radicals and reactive oxygen species (ROS) production. Dynamic thiol-disulfide homeostasis (DTDH) is one of the most important indicators showing the pro-oxidant/antioxidant status in the body. In this study, we aimed to examine the status of DTDH by measuring native thiol, disulfide, and total thiol levels in children with ß-thal trait. The study included 40 children with ß-thal trait and 30 healthy controls (matched by age and gender). The DTDH parameters were measured by an automated method and results were compared between the groups. The levels of native thiol, total thiol, and disulfide in children with ß-thal trait group were statistically significantly higher than the control group (p < 0.001). There was no significant difference in disulfide/native thiol, disulfide/total thiol, and native thiol/total thiol levels between the groups. In addition, there was no correlation between hemoglobin (Hb) and serum ferritin levels with the markers of DTDH in children with ß-thal trait. In our study, a significant increase was found in native thiol, total thiol, and disulfide levels in response to oxidative stress in children with ß-thal trait compared to the healthy control group. Disulfide levels of the children with ß-thal trait were higher than the control group, showing oxidative stress is high in ß-thal trait. Accordingly, it increases the native thiol and total thiol capacity as compensation.
Subject(s)
Disulfides , beta-Thalassemia , Antioxidants , Biomarkers , Child , Disulfides/metabolism , Ferritins , Hemoglobins , Homeostasis/physiology , Humans , Oxidative Stress/physiology , Reactive Oxygen Species , Sulfhydryl CompoundsABSTRACT
BACKGROUND: The aim of the study was to evaluate the approaches of pediatric rheumatologists and pediatric hematologists to patients with similar musculoskeletal (MSK) complaints and to highlight the differences that general pediatricians should consider when referring patients to these specialties. METHODS: This is a cross-sectional study involving the patients who applied to pediatric rheumatology centers with MSK complaints and were diagnosed with malignancy, as well as patients who were followed up in pediatric hematology centers with a malignancy diagnosis, and had MSK complaints at the time of admission. RESULTS: A total of 142 patients were enrolled in the study. Of these patients, 83 (58.4%) applied to pediatric rheumatology centers, and 59 (41.6%) applied to pediatric hematology centers. Acute lymphoblastic leukemia (ALL) was the most common diagnosis among the patients who applied to both centers, with 80 cases (56.3%). The median age of diagnosis was 87 (interquartile range, IQR: 48-140) months. The most common preliminary diagnosis in pediatric rheumatology centers was juvenile idiopathic arthritis (JIA), with 37 cases (44.5%). MSK involvement was mainly seen as arthralgia, and bone pain. While arthralgia (92.7%) was the most common complaint in rheumatology centers, bone pain (88.1%) was more common in hematology centers. The most frequently involved joints were the knee (62.9%), ankle (25.9%), hip (25%), and wrist (14%). The most common laboratory abnormalities were high lactate dehydrogenase (LDH), high C-reactive protein (CRP), anemia, and high erythrocyte sedimentation rate (ESR). Thrombocytopenia, neutropenia, and high LDH were statistically significantly more frequent in patients admitted to hematology centers than in patients admitted to rheumatology centers (p < 0.001, p=0.014, p=0.028, respectively). Patients who applied to rheumatology clinics were found to have statistically significantly higher CRP levels (p=0.032). CONCLUSIONS: Malignancies may present with only MSK system complaints in childhood. Therefore, malignancies should be included in the differential diagnosis of patients presenting with MSK complaints.
Subject(s)
Arthritis, Juvenile , Neoplasms , Child , Humans , Child, Preschool , Cross-Sectional Studies , Retrospective Studies , Neoplasms/complications , Neoplasms/diagnosis , Arthritis, Juvenile/diagnosis , ArthralgiaABSTRACT
BACKGROUND: Heavy menstrual bleeding (HMB) is a common condition in adolescents. However, bleeding disorders are known to be one of the causes of HMB in adolescent girls, so they should be considered. Simple methods that can be used in primary health care are needed to determine whether patients have bleeding disorders. The aim of this study was to evaluate the bleeding score of patients admitted with HMB and to determine the diagnostic value of patients who were symptomatic but whose initial hemostatic tests were normal. METHODS: A total of 113 adolescents with HMB and 20 healthy adolescent girls were included in the study. The Pediatric Bleeding Questionnaire (PBQ) and the International Society of Thrombosis Haemostasis-Bleeding Assessment Tool (ISTH-BAT) were used for evaluation. RESULTS: Overall, approximately 18% (n= 20) of the adolescents in the study were diagnosed with a bleeding disorder. The cut off value for the `clinically significant bleeding score` was found to be 3.5. CONCLUSIONS: The PBQ and ISTH-BAT can help distinguish a significant bleeding history from an otherwise trivial bleeding and can be included in the algorithm for the primary care of adolescents with HMB with suspected bleeding disorders.