Pages II - IV
Tekin Aksu, Sule Unal
doi: 10.5222/TP.2021.10820 Pages 1 - 7
Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalassemias. Beta thalassemia may present as silent carriers with normal hematological parameters, while beta thalassemia carriers have hypochromic microcytic anemia, associated with a high HbA2. However, patients with beta thalassemia intermedia and beta thalassemia major need transfusion intermittently or regularly and they are called non-transfusion dependent thalassemias or transfusion-dependent thalassemias, respectively. This review focuses on pathophysiology, clinical, laboratory features of thalassemias along with their treatment and follow-up.
|6.||Evaluation of Beta Globin Gene Mutations in Beta Thalassemia Carrier Children in Aydın Province and its Environment|
Deniz Ilgün, Yusuf Ziya Aral, Mediha Akcan, Özgür Cartı, Gökay Bozkurt
doi: 10.5222/TP.2021.41713 Pages 8 - 17
INTRODUCTION: Beta thalassemia carriers (BTC) in Turkey is observed with a frequency of 2.1%, and it is the most common cause of anemia after iron deficiency. There are few studies showing the effect of genotype on phenotype in beta thalassemia carrying children. The aim of this study is to determine the mutation diversity of these children in and around Aydın and evaluate the effects of these mutations on complete blood count parameters and hemoglobin electrophoresis.
METHODS: This study included mutation analysis of 65 patients who were diagnosed as BTC in Adnan Menderes University, Faculty of Medicine, Department of Child Health and Diseases, Pediatric Hematology Outpatient Clinic between 01.01.2014 and 01.08.2019. Complete blood count, hemoglobin electrophoresis and mutation analysis results were obtained from the computer data system and patient files. Research data were evaluated by using SPSS 21.0 statistics program.
RESULTS: 39 (60.0%) of the sixty-five patients were male, 26 (40.0%) were female, and the mean age was 8.34±4.94 years. When full blood count parameters were analyzed, 87.7% had anemia, 100% microcytosis and high red cell distribution width (RDW) level, 49.2% hypochromia and 87.7% high red blood cell (RBC) count. RDW level was ≥16 in 66.2% of the cases. Seventeen different mutations were detected. The mutations most frequently occurred in intron 1 gene region (66.1%). The most common ones were IVS I-110 (44.11%), IVS I-1 G>A Heterozygotes (8.8%,) IVS I-6 T>C Heterozygotes (7.5%) and IVS II-745 (7.5%). RDW level was ≥16 in 66.2% of the cases. Seventeen different mutations were detected. The mutations most frequently occurred in intron 1 (66.1%) gene region. IVS I-110 (44.11%), IVS I-1 G>A Heterozygotes (8.8%,) IVS I-6 T>C Heterozygotes (7.5%) and IVS II-745 (7.5%) were observed most commonly. In patients with IVS I-110 mutation, mean Hb level was 10.55 gr/dL, MCV level was 58.44 fL, RDW level was 16.51, RBC level was 5680x10⁹/L, HbA2 level was 4.77%, HbF level was 2.34%. Mutations detected in 12 patients with HbF level above 5% were as IVS I-110 (5 people), IVS I-6 T>C Heterozygotes, Codon 39 C>T Heterozygotes, IVS I-116, c.25-26 del AA (plys9Valfs) Heterozygotes, c.27dupG (pSer10valfs*14), c316-373 (IVSII-478 C>A Heterozygotes), -87 C>T Heterozygotes. Mentzer index was calculated as >13 in six patients (9.2%). The mutations seen in these patients were IVS-I 110, c.27dupG (p.Ser10valfs*14), c316-373 (IVS II-478 C>A Heterozygotes), -87 C>T Heterozygotes. There were four patients (6.1%) with a RDW index >220. Two of these patients had c.27dupG (p.Ser10valfs*14) and others had c316-373 (IVS II-478 C>A Heterozygotes) and -87 C>T Heterozygotes mutations. Mutations detected in four patients with HbF levels in the range of 9.48-15.67 were IVS I-116 T>G Heterozygotes, IVS I-110 G>A Heterozygotes, c.25-26 del AA (p.lys59valfs) Heterozygotes, c27 dupG (pSer10 valfs*14) and three of these mutations carrying β° mutation type were located in exon 1 and one of them carrying β⁺ mutation type (IVS I-110) was in intron 1.
DISCUSSION AND CONCLUSION: The same mutations detected in patients with beta thalassemia carriers have different effects on complete blood count parameters. HbA2 and HbF levels suggest that these mutations are not effective on the phenotype alone and there may be additional factors which should be clarified. We think that there may be BTC in cases with low RBC, Mentzer index ≥13 and RDW index ≥220, HbA2 <3.5 and studying the mutation analysis of these patients will contribute significantly to the literature.
|7.||Evaluation of Clinical Characteristics and Treatment Outcomes of Graves Disease in Children and Adolescents|
Alev Aldemir Sönmez, Ibrahim Mert Erbas, Sezer Acar, Korcan Demir, Ece Bober, Ayhan Abaci
doi: 10.5222/TP.2021.68077 Pages 18 - 27
INTRODUCTION: The most common cause of hyperthyroidism in childhood and adolescence is Graves disease. In this study, we aimed to evaluate the demographic characteristics, clinical and laboratory findings, treatment processes, and remission outcomes in patients followed up with the diagnosis of Graves disease.
METHODS: Medical records of 44 patients who were diagnosed with Graves disease in the period between 1999-2018 in our clinic, were retrospectively reviewed. Patients were included in the analysis according to risk groups (low, medium, and high) for relapses.
RESULTS: The median age of the patients was 13.2 years (9.2-15 years) and 35 (79.5%) of them were females. The most common complaints at the first admission were palpitations (52.3%) and sweating (52.3%), and the most common physical examination finding was tachycardia (43.1%) followed by goiter (40.9%). Propylthiouracil was started in 23 (52.3%) and methimazole in 21 (47.7%) patients. In the clinical follow-up, five patients (11.4%) achieved remission while relapses occurred in none of the patients. Among the patients who did not achieve remission, total thyroidectomy or radioactive iodine treatment were applied to 10 (25.6%) and four (10.2%) patients, respectively. As for the risk groups, 10 patients (35.7%) were in the low-risk, 17 (60.7%) in the moderate-risk, and one patient (3.6%) in the high-risk group. Remission occurred in two patients (20%) in the low-risk and in three patients (17.6%) in the moderate-risk group with a median time to remission being 25 and 18 months, respectively.
DISCUSSION AND CONCLUSION: In this study, remission rates were found to be low in pediatric Graves disease in accordance with the literature. We showed that long-term anti-thyroid therapy can be used to increase remission rates and alternative treatment options can be preferred in patients who are non-adherent to treatment and who do not achieve remission.
|8.||Ventriculo-Peritoneal Shunt Infections in a Tertiary Center, 3 Years Experience|
Emre Dincer, Nazan Dalgıç Karabulut
doi: 10.5222/TP.2021.29392 Pages 28 - 34
INTRODUCTION: Ventriculo-peritoneal shunt infection is the most important complication of shunt applications. In pediatric age, shunt infections are associated with shunt dysfunction, requirement for shunt revision, neurodevelopmental delay, prolonged hospital stay, and high treatment costs. In this study, we aimed to evaluate the characteristics of shunt infections of our patients and to compare the differences between early and late infections, infections caused by staphylococci and other strains and infection that did and did not recur.
METHODS: In this retrospective study, shunt infections treated in the Pediatric Infection Clinic of Hamidiye Etfal Training and Research Hospital between July 2008 and July 2011 were evaluated.
RESULTS: Forty-seven shunt infections in 42 patients were evaluated. Congenital anomalies were the most common etiology of hydrocephalus and fever was the most common symptom of the patients. Higher rates of early shunt infections, shunt infections in early childhood and infections caused by staphylococci species were observed. Patients with infections caused by staphylococci species received shorter duration of antibiotherapy (p=0.024). Infections that recurred in the six months of follow-up had higher rates of positive blood cultures (p=0.022). There was no statistically significant difference between early and late-term shunt infections.
DISCUSSION AND CONCLUSION: Shunt infections were evaluated in different aspects in our study. Direct colonization of the shunt catheter still seems to be most important cause for the shunt infections because early infections and infections caused by skin flora were more common in our patient group.
|9.||Age at Onset of Menarche and Puberty of Girls in Aydin Region and the Factors Affecting Them|
Ebru Ataş Aslan, Tolga Ünüvar
doi: 10.5222/TP.2021.65375 Pages 35 - 42
INTRODUCTION: In this study, we aimed to determine the range of mean age at onset of menarche (AOM) and puberty (AOP) of girls living in Aydin province and to determine the factors affecting the onset age of menarche.
METHODS: A total of 1891 girls aged between 8 and 16 years attending primary, secondary and high schools in Aydin province were planned to be included in the study. A questionnaire that was prepared in line with the literature was delivered to the parents in a closed envelope. The subjects who accepted to participate in the study were examined by an experienced physician by measuring height and weight and pubertal status was defined according to Tanner scale. BMI values were calculated.
RESULTS: In total, 1520 female students were accepted to the study with the permission of their families. The mean AOM of participants was 12.11±1.32 years. The mean AOM was 13.12±1.46 years for their mothers, and 12.73±1.25 years for their sisters. June was the month that menarche occurred most frequently. We observed that the children living in rural areas had an earlier age of menarche. The mean age at onset of puberty was 9.71±1.46 years.
DISCUSSION AND CONCLUSION: Our study is important in terms of being the first study conducted in Aydin province that determined the mean AOM and AOP of girls aged between 8 and 16. In our study, we showed that the age of menarche shifted to an early age, while the age of puberty did not shift. The age at onset of menarche and puberty were similar to the results obtained in other studies conducted in neighboring regions. We believe that larger scale studies may contribute to assess the actual mean age at menarche of girls living in Turkey.
|10.||Chryseobacterium indologenes as a Rare Pathogen of Bacteremia in Febrile Neutropenia|
Begümhan Demir Gündoğan, Fatih Sagcan, Elvan Çağlar Çıtak
doi: 10.5222/TP.2021.98608 Pages 43 - 46
Chryseobacterium indologenes (C. indologenes) is nonmotile, oxidase-, and indole-positive gram-negative aerobic bacillus. Immunosuppression, comorbidities, use of broad-spectrum antibiotics are known risk factors for C. indologenes-related infections. We report a neutropenic fever caused by C. indologenes in a 16-month-old boy who was treated due to the neuroblastoma. According to the antimicrobial susceptibility test result, he was treated with cephaperazone/sulbactam.
|11.||Ophthalmoplegia in the Acute Phase of Hemolytic Uremic Syndrome: A Case Report|
Müge Ayanoğlu, Ferah Sönmez, Ayse Tosun, Dilek Yılmaz
doi: 10.5222/TP.2021.33042 Pages 47 - 50
Hemolytic uremic syndrome (HUS) is a common form of thrombotic microangiopathies. Among its extrarenal complications, ocular involvement is very rare.
We present a patient with HUS, whose first symptom was isolated abduction deficits in the eyes. Lethargy was added during the clinical course, suggesting neurological involvement. Although conventional magnetic resonance imaging was normal, symmetric diffusion restriction was detected in bilateral putamen on diffusion-weighted images. Treatment with peritoneal dialysis, fresh frozen plasma infusions, and eculizumab was initiated. The patient responded well to the treatment and was discharged with excellent neurological, hematological, and ophthalmological outcomes. Nephrological follow-up is being continued due to proteinuria
To our knowledge, presenting with ophthalmoplegia in the acute phase of hemolytic uremic syndrome is very rare. The patients ophthalmological and neurological symptoms improved after eculizumab treatment. We suggest that eculizumab is effective in the acute phase of HUS in cases of ophthalmological involvement.