A hemophagocytic lymphohistiocytosis case with newly defined UNC13D (C.175G>C; p.Ala59Pro) mutation and a rare complication

Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes. A 2-month-old girl, who was admitted with fever, was diagnosed with HLH and her genetic examination revealed a newly defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) gene. She was treated with dexamethasone, etoposide, and intrathecal methotrexate. During the second week of treatment, after three doses of etoposide, it was noticed that there was a necrotic plaque lesion on the soft palate. Pathologic examination of debrided material in PAS and Grocott staining revealed lots of septated hyphae, which was consistent with aspergillosis infection. Etoposide was stopped and amphotericin B treatment was given for six weeks. HLH 2004 protocol was completed to eight weeks with cyclosporine A orally. There was no patient with invasive aspergillosis infection as severe as causing palate and nasal septum perforation during HLH therapy. In immuncompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue. © 2015 Turkish Society of Hematology. All rights reserved

Hemophagocytic syndrome due to leishmania infection diagnosed with immunofluorescence antibody test

Leishmaniasis is a reticuloendothelial system disease that mostly observed before the age of 5. Visceral infection causes long-standing fever, weight loss, weakness, pancytopenia, and hepatosplenomegaly. Leishmania infantum is responsible for visceral leishmaniasis (VL) in Turkey. We present a case of hemophagocytic syndrome due to Leishmania infection diagnosed with an immunofluorescence antibody test (IFAT). Leishmania amastigotes were not observed on bone marrow aspiration. We consider that IFAT is very important for parasite detection in the diagnosis of VL in children, particularly when amastigotes are not obtained on bone marrow aspiration

Mikofenolat mofetil ile remisyon sağlanan steroide dirençli otoimmün hemolitik anemi

Autoimmune hemolytic anemia (AIHA) is a disease that is seen in 1/10.000 people and characterized by forming antibodies against red blood cells and degradation of these red blood cells in reticuloendothelial system. Even autoimmune diseases can accompany, it is seen usually idiopathic. Paleness due to anemia, jaundice, tachycardia, darkening in urine color, hepatosplenomegaly are frequently seen clinical findings. Clinically normochrome and normocytic anemia, reticulocytosis, polychromasia in peripheral smear, spherocytes, indirect hyperbilirubinemia and increased lactate dehydrogenase are seen. Direct coombs test is the diagnostic test. Steroids are the first line drugs in treatment. The dosage and the treatment duration is formed according to patient's clinical situation. The treatment is checked by complete blood count, reticulocyte and Coombs test. Immunosuppressor treatments are given to patients that don't respond to treatment in 4-6 weeks or less patients who has recurrence at the time of decreasing the treatment dosage of corticosteroids. In few patient, that did not respond steroids, immunosuppressive treatments are used. Here, we present a patient, who is diagnosed with AIHA that we couldn't manage remission by steroid treatment, and no response to rituxumab as an immunosuppressor, but treated successfully with microphenolat mofetil

The retrospective evaluation of patientswith acute bronchiolitis

Amaç: Bronsiolit, küçük hava yollarının inflamatuar obstrüksiyonundan kaynaklanan ve özellikle 6 aydan küçük çocuklarda en sık hospitalizasyon nedeni olan bir hastalıktır. Bu çalısmada, klinigimize bronsiolit nedeniyle kabul edilen olguların demografik özellikleri, klinik bulguları, tedavisi ve prognozu analiz edildi. Bulgular: Olguların %59,7'si (n=40) erkek, %40,3'ü (n=37) kız olup, %40,3'ü kıs, %29,9'u ilkbahar, %23,9'u sonbahar, %6'sı yaz mevsiminde hastanemize kabul edildi. En büyük hasta gurubunu 3-6 aylık bebekler (%35,8) olusturmaktaydı. Ilk basvuru sikayetleri %85'inde öksürük, %53,7'sinde hırıltı ve %34,3'ünde atesti. Atopi öyküsü üç ve daha fazla atak geçirenlerde %41.6, bir ve iki atak geçirenlerde %20olarak saptandı. Sonuç: Ailede atopi öyküsü bulunmasının bronsiolitli olgularda atak sayısını ve steroid gereksinimini arttırdıgı görüldü.Aim: Bronchiolitis is an under respiratory tract disorder which is caused by the inflammatory obstruction of the small airways. It is also the most common reason for hospitalization of children younger than 6 months. In this study, demographic characteristics, clinical symptoms, treatment and prognoses of patients who had been admitted to our clinic due to bronchiolitis were investigated. Findings: 59.7% of patients were male, and 40.3% were female. 40.3% were admitted to our hospital in winter, 29.5% in spring, 23.6% in fall and 6% in summer. The largest group of patients consisted of infants between 3-6 months (35.9%). Initial complaints were coughing in 85%, wheezing in 53.7% and fever in 34.3%. Of the patients history of atopy was determined more frequently (41.6%) among those who suffered from three or more attacks compared with patients who experienced one to two attacks (20%). Result: A history of atopy in the patient's family increases the number of bronchiolitis attacks and the need for steroid

Patients who developed osteonecrosis during the treatment of acute lymphoblastic leukemia

Osteonekroz; çocuklarda akut lenfoblastik lösemi tedavisi sırasında veya sonrasında nadir görülen fakat ciddi sorunlara yol açabilen bir komplikasyondur. Yapılan çalışmalarda ALL tedavisi alan çocuklarda semptomatik osteonekroz insidansı %1,6-9,3 olarak bulunmuştur. Yüksek doz steroid tedavisi en önemli risk faktörüdür. Osteonekrozis fizyopatolojisi tam olarak açıklanamamıştır. Kortikosteroidlerin, sinüzoidal venlerdeki tromboembolilere bağlı mekanik tıkanmaya neden oldukları bunun sonucunda kan akımının azalmasıyla birlikte hipoksiye bağlı olarak osteoblast aktivitesinin azalıp, osteoklast aktivitesinin artmasıyla oluştuğu düşünülmektedir. Osteonekroz tanısında manyetik rezonans görüntüleme erken dönemde en duyarlı tanı yöntemidir. Burada ALL tanısıyla takip edilirken idame tedavisi sırasında osteonekroz gelişen 15 ve 14 yaşlarında 2 kız hasta sunulmuştur.Osteonecrosis is a rare and serious complication that can be developed during or after treatment for acute lymphoblastic leukemia (ALL). The incidence of symptomatic osteonecrosis related to ALL treatment is 1.6-9.3%. High-dose steroid therapy is the major risk factor for osteonecrosis. The pathophysiology is unclear. It is thought that osteonecrosis occurs due to steroid use causing thromboembolism in sinusoidal veins leading to hypoxia resulting in decreased osteoblast activity and increased osteoclast activity. Magnetic resonance imaging is the most sensitive diagnostic method in early period. We present two girls, 15 and 14-year-old, in whom osteonecrosis developed during ALL maintenance therapy

Henoch-Schonlein purpuralı hastaların analizi

Amaç: HSP'li hastalarımızın epidemiyolojik ve klinik özellikleri, laboratuar bulguları ve hastalıgın seyrinin incelenmesi amaçlandı. Yöntem: 2000-2006 yılları arasında, hastanemiz Çocuk Saglıgı ve Hastalıkları Klinigi'nde Henoch-Schonlein Purpurası tanısı alan ve izlenen 45 hasta retrospektif olarak incelendi. Bulgular: Hastaların 27 (%60,0)'si kız, 18 (%40,0)'i erkek, kız / erkek oranı 1.5 idi.Yas ortalaması 6 yas 9 ay (8 ay-14 yas) olarak saptandı. Basvuru sikayetleri sıklık sırasına göre döküntü (%100), yürüyememe ve/veya eklem agrısı (%71,1) ve karın agrısı (%40,0) idi. Hastaların % 57,7'inde ortalama 12 gün önce geçirilmis enfeksiyon öyküsü tespit edildi. Fizik muayenede purpurik döküntü (alt ekstremite ve gluteal bölgede %100, yaygın %11,1), artrit (32 hastada, %71,1, en sık ayak bilegi ve diz eklemlerinde), ates (9 hastada, %20,0) bulundu. Laboratuar bulguları anemi (8/45 hasta, %17,7), lökositoz (6/45 hasta, %13,3), trombositoz (16/45 hasta, %35,5), sedimentasyon yüksekligi (16/25 hasta, %64,0), CRP pozitifligi (33/34 hasta, %97,0), hematüri (4/45 hasta, %8,8), proteinüri (2/45 hasta, %,4,4), gaitada gizli kan pozitifligi (14/42 hasta, %33,3) bulundu. Hematüri ve proteinüri devam etmedigi için hiçbir hastada böbrek biyopsisine gerek duyulmadı. Gastrointestinal sistem tutulumu oldugu düsünülen 17 hastaya steroid tedavisi baslandı ve ortalama 9.1 gün kullanıldı. Perforasyon, invaginasyon gözlenmedi. Ortalama 15. günde 9 hastada relaps görüldü. Santral sinir sistemi tutulumu hiçbir hastada yoktu. Sonuç: Henoch-Schonlein Purpurası çocukluk çagında sık görülen benign karakterli bir hastalık olup komplikasyon ve sekel oranı oldukça düsüktür.Aim: The aim of this study was to investigate the clinical and epidemiologic features, laboratory finding and outcome of disease in our patients with Henoch-Schönlein purpura. Methods: Fourty-five patients with Henoch-Schönlein purpura who were diagnosed and observed in our department of pediatrics between 2000-2006 were retrospectively evaluated. Results: Twentyseven (60.0%) of the patients were female and 18 (40.0%) were male, female to male ratio was1.5. Mean age of the patients was 6 year 9 months (8 months-14 years). İnitial symptoms and findings in the time of admission with decreasing frequency were purpura (100%), disability to walk and/or arthralgia (71.1%) ve stomachache (40.0%). An infection history was present in 57.7% of the patients in the last 12 days. In physical examination, purpura (lower extremity and hips 100%, diffuse 11.1%), arhtritis (32 patients, 71.1%, mostly diffused on ankle and knee), fever (9 patients, 20,0%) were discovered. Anaemia (8/45 patients, 17.7%), leukocytosis (6/45 patients, 13.3%), trombocytosis (16/45 patients, 35.5%), increased erythrocyte sedimentation rate (16/25 patients, 64.0%), positive CRP (33/34 patients, 97.0%), hematuria (4/45 patients, 8.8%), proteinuria (2/45 patients, 4.4%), positive fecal blood tests (14/42 patients, 33.3%) were determined. Renal biopsy was not needed as there was no persistant hematuria and proteinuria. 17 patients who had gastrointestinal involvement were treated with steroid therapy for a mean period of 9.1 days. Perforation and invagination was not observed. Relapse was seen in 9 patients. (mean duration 15th day). There was no nervous system involvement in any patients. Conclusion: Henoch-Schonlein Purpura is a frequent benign disease of childhood. Complicatios and sequeles are infrequent

Measurements of the branching fractions for B→K∗γB \to K^{*}\gamma decays at Belle II

This paper reports a study of $B \to K^{*}\gamma$ decays using $62.8\pm 0.6$ fb$^{-1}$ of data collected during 2019--2020 by the Belle II experiment at the SuperKEKB $e^{+}e^{-}$ asymmetric-energy collider, corresponding to $(68.2 \pm 0.8) \times 10^6$ $B\overline{B}$ events. We find $454 \pm 28$, $50 \pm 10$, $169 \pm 18$, and $160 \pm 17$ signal events in the decay modes $B^{0} \to K^{*0}[K^{+}\pi^{-}]\gamma$, $B^{0} \to K^{*0}[K^0_{\rm S}\pi^{0}]\gamma$, $B^{+} \to K^{*+}[K^{+}\pi^{0}]\gamma$, and $B^{+} \to K^{*+}[K^{+}\pi^{0}]\gamma$, respectively. The uncertainties quoted for the signal yield are statistical only. We report the branching fractions of these decays: $$\mathcal{B} [B^{0} \to K^{*0}[K^{+}\pi^{-}]\gamma] = (4.5 \pm 0.3 \pm 0.2) \times 10^{-5},$$ $$\mathcal{B} [B^{0} \to K^{*0}[K^0_{\rm S}\pi^{0}]\gamma] = (4.4 \pm 0.9 \pm 0.6) \times 10^{-5},$$ $$\mathcal{B} [B^{+} \to K^{*+}[K^{+}\pi^{0}]\gamma] = (5.0 \pm 0.5 \pm 0.4)\times 10^{-5},\text{ and}$$ $$\mathcal{B} [B^{+} \to K^{*+}[K^0_{\rm S}\pi^{+}]\gamma] = (5.4 \pm 0.6 \pm 0.4) \times 10^{-5},$$ where the first uncertainty is statistical, and the second is systematic. The results are consistent with world-average values

Angular analysis of B+→ρ+ρ0B^+ \to \rho^+\rho^0 decays reconstructed in 2019, 2020, and 2021 Belle II data

We report on a Belle II measurement of the branching fraction ($\mathcal{B}$), longitudinal polarization fraction ($f_L$), and CP asymmetry ($\mathcal{A}_{CP}$) of $B^+\to \rho^+\rho^0$ decays. We reconstruct $B^+\to \rho^+(\to \pi^+\pi^0(\to \gamma\gamma))\rho^0(\to \pi^+\pi^-)$ decays in a sample of SuperKEKB electron-positron collisions collected by the Belle II experiment in 2019, 2020, and 2021 at the $\Upsilon$(4S) resonance and corresponding to 190 fb$^{-1}$ of integrated luminosity. We fit the distributions of the difference between expected and observed $B$ candidate energy, continuum-suppression discriminant, dipion masses, and decay angles of the selected samples, to determine a signal yield of $345 \pm 31$ events. The signal yields are corrected for efficiencies determined from simulation and control data samples to obtain $\mathcal{B}(B^+ \to \rho^+\rho^0) = [23.2^{+\ 2.2}_{-\ 2.1} (\rm stat) \pm 2.7 (\rm syst)]\times 10^{-6}$,$f_L = 0.943 ^{+\ 0.035}_{-\ 0.033} (\rm stat)\pm 0.027(\rm syst)$, and$\mathcal{A}_{CP}=-0.069 \pm 0.068(\rm stat) \pm 0.060 (\rm syst)$. The results agree with previous measurements. This is the first measurement of$\mathcal{A}_{CP}$in$B^+\to \rho^+\rho^0$ decays reported by Belle II