Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission

Hematopoietic stem cell transplantation and high dose chemotherapy in recurrent and/or chemotherapy resistant hodgkin lymphoma cases: A single center experience

Giriş: Standart tedavi alan Hodgkin Lymphoma (HL) hastalarının yaklaşık %20’sinde hastalık dirençli seyredebilir veya tekrar edebilir. Tekrar eden/ dirençli HL’da standart tedavi yüksek doz kemoterapi ve takip eden otolog kök hücre naklidir (OKHN). Otolog KHN sonrası tekrar eden hastalarda ise allojeneik kök hücre nakli (AKHN) önemli bir kurtarma tedavisi olarak görülmektedir. Amaç: Medipol Üniversitesi Tıp Fakültesi çocuk kemik iliği nakil ünitesinde OKHN ve AKHN yapılan hastalarda sonuçları değerlendirmek. Yöntem: Tekrar eden/dirençli HL nedeniyle 2014 Kasım ile Temmuz 2019 tarihleri arasında merkezimizde OKHN yapılan 18 olgu retrospektif olarak değerlendirilmiştir. Otolog KHN sonrası hastalığı tekrar eden ve AKHN yapılan hastalarda ayrıca değerlendirilmiştir. Bulgular: Onaltı hasta halen hayattadır. Onbir hastada OKHN sonrası has talık tekrar etmiştir. Relaps eden hastalardan 10’una AKHN yapılmıştır. Bu hastalardan üçünde tekrar görülmüş olup, sekizi nakil sonrası hayattadır lar.Background: Nearly 20% of patients with Hodgkin Lymphoma (HL) who receive standard treatment will relapse or have a refractory disease. Standard treatment for the Relapsed/Refractory (RR) HL is salvage high dose chemotherapy followed by autologous stem cell transplantation (AuSCT). Management of RR HL after AuSCT with allogeneic stem cell transplantation (ASCT) is also considered as an important salvage therapy. Objective: To describe the outcome in pediatric patients with RR HL who underwent AuHSCT and ASCT in Medipol University hematopoietic stem cell transplantation center. Method: We retrospectively evaluated 18 pediatric patients with RR HL who underwent AHSCT between November 2014 and July 2019. The evaluation of ASCT after RR HL AuSCT is also done. Results: Sixteen patients are still alive. Eleven of them relapsed after AuHSCT. AllogeneicHSCT was performed on 10 patients who relapsed. Relapse was seen in three patients after AHSCT. Eight of them are still alive

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Whole-exome sequencing reveals a homozygous splice-site mutation in the gene encoding STIM1 in a child with classic Kaposi sarcoma

A child with a severe headache: Questions

A 12-year-old girl presented with complaint of severe headache lasting 10 days, nausea and vomiting for 1 day. The headache was localized in the right fronto-occipital region with spread to the neck and shoulders. In her medical history, tympanostomy tubes were inserted in her ears due to frequent otitis media with effusion before 2 years. She had recurrent reactive airway, asthma attacks, and allergic rhinitis. Before the definitive diagnosis could be established, she had received systemic antihistamine, nasal steroid, leukotriene antagonist, inhaler steroid, and salbutamol. She was treated with sefaclor per orally due to acute sinusitis for 5 days. The patient was admitted to our hospital with symptoms of severe headache. Physical examination showed that she was alert with an axillary temperature of 36.3 °C, weight of 60 (95th percentile) kg, height of 155 (65th percentile) cm, blood pressure of 150/100 mmHg (> 95th/> 95th percentile), and heart rate of 98 beats/min

Diagnosis of Influenza by a Rapid Test in the Outpatient Department of Pediatrics

Aim: Influenza is a disease causing epidemics associated with excess morbidity and mortality especially due to pulmonary complications. There is an inactivated vaccine and antiviral treatment is also available. In this study we aimed the rapid and definitive diagnosis of influenza in children

A child with a severe headache: Answers

1) What is your suspected diagnosis of acute severe headache in this patient? We report here an adolescent girl who presented with severe headache while receiving acute sinusitis treatment and was found to have bilateral papilledema, anemia, hepatosplenomegaly, and hypertension. In addition, our patient also manifested the symptoms and signs suggesting increased intracranial pressure as intractable headache, nausea, vomiting, and bilateral papilledema

The effect of early warning scoring system in pediatric intensive care unit on mortality after pediatric hematopoietic stem cell transplantation

...European Society for Blood and Marrow Transplantatio

Examination of patients with acute kidney injury in the pediatric intensive care unit

Introduction: Acute kidney injury (AKI), has negatively impacting the mortality and morbidity of patients in pediaric intensive care units. We aimed to investigate AKI causes, risk factors and factors affecting survival in children while being monitored in the pediatric intensive care unit (PICU). Material and methods: 328 patients, who were followed up in the PICU between January 2018 and March 2021 for various reasons, were examined retrospectively. 43 (13,1%) patients who diagnosed with AKI without prior chronic kidney injury were included in the study. Results of demographic data, primary diagnosis, AKI causes, risk factors and Pediatric Risk of Mortality (PRISM III) scores of surviving and deceased were compared. Results: 15 of AKI patients (34,9%) were girls. The mean age was 6.18 ± 5.61 (median: 5) years. On the first day of hospitalization in PICU, PRISM III scores were 19.48 ± 9.65 (median: 19). Acute lymphoblastic leukemia was the most common primary disease with 7 patients (16,2%). Median PICU length of stay was 10 days. We found that 30 (89,7%) patients developed AKI while being followed up with a mechanical ventilator and 28 (65,1%) of these patients used nephrotoxic drugs before AKI developed. It was found that 17 (39,5%) cases developed oliguria and/or anuria, and 36 (83,7%) patients developed multiple organ failure. Dialysis treatment was applied to 8 (18,6%) patients and continuous dialysis treatment methods were preferred in all of them. Median duration of dialysis time was 3,5 days. 28 (65,1%) patients died. PRISM scores, sepsis and dialysis requirement were found to be statistically significantly higher in deceased than surviving patients (respectively p= 0.001, p=0.001, p=0.001). Conclusions: Despite technological advances, AKI is an important cause of mortality and morbidity in critically ill patients. PRISM scoring and the presence of sepsis can be considered as an important determinant in predicting mortality and acting early for the dialysis decision