Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.

Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF.

Therapeutic plasma exchange in critically ill children: A single center experience.

INTRODUCTION: Therapeutic plasma exchange (TPE) is used in a wide spectrum of diseases in critically ill pediatric patients. We aim to review the indications, complications, safety, and outcomes of critically ill children who received TPE. METHODS: All of the TPE procedures performed in a pediatric intensive care unit providing tertiary care during 19 years (January 2013-January 2023) were evaluated retrospectively. A total of 154 patients underwent 486 TPE sessions. RESULTS: Median age was 6 years (2-12.5) and 35 children had a body weight of <10 kg (22.7%). Number of organ failure was 4 (2-6). Liver diseases were the most common indication for TPE (31.2%) followed by sepsis with multiorgan dysfunction syndrome (27.3%). Overall survival rate was 72.7%. The highest mortality was observed in hemophagocytic lymphohistiocytosis group. Non-survivors had significantly higher number of organ failure (p < 0.001), higher PRISM score (p < 0.001), and higher PELOD score on admission (p < 0.001). Adverse events were observed in 68 (13.9%) sessions. Hypotension (7.8%) and hypocalcemia (5.1%) were the most frequent adverse events. CONCLUSION: TPE is safe for critically ill pediatric patients with experienced staff. Survival rate may vary depending on the underlying disease. Survival decreases with the increase in the number of failed organs.

The effect of chemotherapy on symptoms and nutritional status in children with cancer.

PURPOSE: This observational study carried out to determine the incidence of poor nutritional status and symptom burden in children undergoing chemotherapy treatment. METHODS: The research data collected from 187 children between the ages of 7-18 at pediatric hematology-oncology units in Izmir. The data of the study collected with Screening Tool for Risk of impaired Nutritional Status and Growth (STRONGkids), and the Memorial Symptom Assessment Scale (MSAS). RESULTS: Patients reported a mean (SD) of 14.1 (8.1; range, 1-30) symptoms, and 43.9% were underweight. According to the STRONGkids, 62% had a high risk for malnutrition. The incidence of all symptoms increased as the Z-score of the patients worsens. There was a significant positive correlation between mean symptoms and STRONGkids malnutrition risk score, and Z-score (p < .001). CONCLUSION: Most of the patients were at high risk of malnutrition. It observed that chemotherapy treatment led to malnutrition. The patients with high risk for malnutrition according to the STRONGkids and severe malnutrition according to the Z-score experienced more symptoms.

Aplastic Anemia Frequency and Management in Pediatric Liver Transplantations Due to Non-A-E Hepatitis.

BACKGROUND: Hepatitis-associated aplastic anemia (HAAA) is a rare complication that presented with bone marrow failure after acute hepatitis. HAAA usually occurs in adolescent men within 1-6 months following hepatitis. Most of HAAA's etiology has non-A-E viral hepatitis. METHODS: Our retrospective study included patients with acute fulminant hepatitis who had been treated in Ege University Pediatric Gastroenterology, Hepatology and Nutrition Department and Izmir Kent Hospital Clinical, laboratory, and epidemiological data of the patients were collected from the files. RESULTS: In this study, 499 children underwent liver transplantation (LT) in two pediatric transplantation centers. Sixty-eight (13.6%) out of 499 patients, underwent liver transplantation due to fulminant hepatic failure (FHF). Therefore, a total of 64 patients (34 girls, 30 boys) with a diagnosis of FHF have included in the study. Thirty-two (50.0%) of 64 FHF were due to non-A-E hepatitis and 4 out of the 64 patients (6.2%) with FHF developed HAAA. All of the patients received prednisolone as immunosuppression treatment after LT. Three patients were also given Tacrolimus and 1 received an additional mycophenolate mofetil. One of the patients was given prednisolone and cyclosporine treatment without tacrolimus. Bone marrow transplantation was performed in 1 patient (25.0%). Two of the patients received immunosuppressive treatment including rabbit-derived anti-thymocyte globulin, cyclosporine, and initially prednisolone. CONCLUSION: In children who underwent liver transplantation for non-A-E FHF are at high risk to develop aplastic anemia. The clinicians should be alert after orthotropic liver transplantation patient could develop aplastic anemia and early treatment with immunosuppressive therapies result in a more successful outcome.

Successful Desensitization Protocol in an Infant Following Anaphylaxis Secondary to Recombinant Factor VIIa.

Background: Recombinant factor VIIa (rFVIIa) is a highly purified recombinant protein. It is approved for the treatment and prevention of bleeding episodes associated with congenital factor VII deficiency, congenital hemophilia with inhibitors, and Glanzmann's thrombasthenia. The most commonly reported adverse events are thrombolytic in nature. In this report, we present a successful desensitization protocol administered to an infant with a history of anaphylaxis to rFVIIa. Case: A male infant with a history of gingival bleeding at the age of 6 months was diagnosed with factor VII deficiency with a factor VII level of 1%. His sister also had diagnosis of factor VII deficiency. Our patient was hospitalized at 10 months of age with generalized petechiae and bloody stools. Twenty minutes after administration of rFVIIa, he developed anaphylaxis that responded to epinephrine and supportive care. Subsequently he was evaluated at the allergy clinic, where a skin prick test with rFVIIa was negative. However, the intradermal skin test, applied with 1/1,000 (1 µg/1 mL, 0.1 mL) dilution of rFVIIa, showed induration of 8 mm (positive reaction). Because there is no alternative treatment for factor VII deficiency, we developed a successful 13-step desensitization protocol with rFVIIa (NovoSeven®). Desensitization was performed an additional 2 times using the same protocol, one of which was for a head injury and the other for a swollen knee since the period between the doses was ∼3 months. Conclusion: Allergic reactions, such as anaphylaxis can occur without prior exposure. This can be due to the high molecular weight and structural property of the biological agent. In this report, we present an effective desensitization protocol for an infant with a history of anaphylaxis to rFVIIa. Desensitization protocols in this age group should be carried out in a medical facility and with specialized staff and equipment prepared to care for anaphylaxis.

Extranodal Ocular Adnexal Marginal Zone Lymphoma in a Ten-Year-Old Child

A 10-year-old girl was brought to the clinic with the complaint of a salmon-colored conjunctival lesion for 1 month. With the aid of histopathological evaluation and other tests, extranodal ocular adnexal marginal zone lymphoma was diagnosed. The patient was graded as T1bN0M0 according to AJCC and Stage 1 according to Ann Arbor classification. She was treated with external radiotherapy at 1.8 Gy/day for 17 days for a total dose of 36 Gy. She is in remission for 26 months and still being followed up.

Fertility in Patients with Thalassemia and Outcome of Pregnancies: A Turkish Experience

Objective: In recent years, the rates of marriage and pregnancy are increasing in patients with thalassemia major. The aim of the present study was to investigate the fertility rate of thalassemic patients and the course of pregnancies in terms of mother and infant health. Materials and Methods: In this observational study patients with major hemoglobinopathy were evaluated regarding marital status, the need for assisted reproductive techniques, fertility rate, iron status, and pregnancy complications. Results: Seventeen female patients gave birth to 21 healthy infants. About one-third of the patients needed assisted reproductive techniques. Thalassemia major patients showed increased serum ferritin levels from 1203±1206 µg/L at baseline to 1880±1174 µg/L at the end of pregnancy. All babies are still alive and healthy. Conclusion: Pregnancy in patients with thalassemia can be safe for the mother and newborn with close monitoring and a multidisciplinary approach.