Coexistence Or A Related Condition: An Infant With Retinoblastoma And Gaucher Disease

Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid beta-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD include hepatosplenomegaly, cytopenia, and various patterns of bone and lung involvement. Retinoblastoma is a malignant tumor of the developing retina that occurs in children, typically before the age of five. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. The association between GD and retinoblastoma has not been reported until now. Here we report the case that was diagnosed with, retinoblastoma at the age of 2 months and then GD at the age of 11 months. Although there are controversies concerning the association between GD and cancer; malignancies should be kept in mind during GD patients follow up.WoSScopu

Long Term Follow-Up Of Children With Chronic Hepatitis B: A Single Center Experience

Chronic Hepatitis B infection is an important clinical issue because of the associated risk of developing cirrhosis and hepatocellular carcinoma. Especially in children, there is no consensus about the optimal treatment. Clinical features and long-term outcomes of 165 children diagnosed with chronic hepatitis B at our institution between January 1993 and June 2012 were analysed retrospectively. Patients were divided into four groups according to their treatment protocols. The first group received Interferon (IFN) only, the second group started lamivudine (LMV) first then IFN+LMV combined and then continued with LMV only, the third group started with IFN+LMV combined then continued with LMV only and the fourth group received LMV only. After a median follow-up period of 7 years (1-19 years) the highest e-seroconversion (the loss of HBeAg followed by gain of antiHBe antibody) rate, biochemical and virological response was observed with combined (IFN+LMV) treatment regimens. Patients with higher ALT levels were better treatment responders (p: 0.003). Identification of the patients who need to be treated in order to determine the most effective therapy with optimal treatment duration is important to reduce the risk of developing future complications like cirrhosis and hepatocellular carcinoma.WoSScopu

Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome.

Wo

Clinical potential of resistin as a novel prognostic biomarker for cellulitis

Cure, Medine Cumhur/0000-0001-9253-6459; cure, erkan/0000-0001-7807-135X; ERTURK, AYSE/0000-0001-6413-9165WOS: 000353849700051PubMed: 26136908Cellulitis is an acute, subacute or chronic inflammation of the dermis and subdermal tissues, which is typically caused by bacteria, although other causes are possible. the present study aimed to evaluate the association between resistin levels and the recovery time of patients with cellulitis. in addition, the effect of resistin and insulin resistance on the prognosis of cellulitis was investigated. in total, 52 patients with cellulitis (male, 21; female, 31) and an age-matched group of 42 healthy individuals (male, 18; female, 24) were included in the study. the levels of serum resistin, fasting plasma glucose (FPG), homeostasis model assessment-insulin resistance (HOMA-IR), C-reactive protein (CRP) and other biochemical parameters were compared between the groups. the mean resistin levels in the cellulitis and control groups were 9.4 +/- 5.3 and 5.8 +/- 3.1 ng/ml, respectively. the levels of resistin, FPG, HOMA-IR and CRP were significantly higher in the cellulitis group compared with the control group (P<0.001). Furthermore, the mean recovery time of the patients with cellulitis was 21.2 +/- 5.6 days. Thus, increased levels of resistin (P=0.002) and HOMA-IR (P=0.005) could be used as predictive factors for the recovery time. the enhanced levels of resistin and HOMA-IR were shown to correlate with the high CRP levels in the cellulitis group. Therefore, the results indicated that increased levels of resistin may function as a prognostic marker for cellulitis

Application of Fourier Transform Infrared Spectroscopy to Biomolecular Profiling of Cultured Fibroblast Cells From Gaucher Disease Patients: A Preliminary Investigation

Background. Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined. Also, the secondary structure ratios of proteins can be determined by analysing the amide peaks. Objectives. The primary aim of this study is to introduce FTIR-ATR spectroscopy technique to GD research for the first time in the literature and to assess its potential as a new molecular method. Material and methods. Primary fibroblast cell cultures obtained from biopsy samples were used, since this material is widely used for the diagnosis of GD. Intact cells were placed onto a FTIR-ATR crystal and dried by purging nitrogen gas. Spectra were recorded in the mid-infrared region between 4500-850 cm(-1) wavenumbers. Each peak in the spectra was assigned to various organic biomolecules by comparing their wavenumbers with the reference values in the literature. A quantitative analysis was performed using peak areas and we also used a hierarchical cluster analysis as a multivariate spectral analysis. Results. We obtained FTIR spectra of fibroblast samples and assigned the biomolecule origins of the peaks. We observed individual heterogeneity in FTIR spectra of GD fibroblast samples, confirming the well-known phenotypic heterogeneity in GD at the molecular level. Significant alterations in protein, lipid and carbohydrate levels related to the enzyme replacement therapy were also observed, which is also supported by cluster analysis. Conclusions. Our results showed that the application of FTIR spectroscopy to GD research deserves more attention and detailed studies with an increased sample size in order to evaluate its potential in the diagnosis and follow-up of GD patients.WoSScopu

Comparison of effects of digital vaginal examination with transperineal ultrasound during labor on pain and anxiety levels: a randomized controlled trial

Objective To evaluate whether routine vaginal examination during labor is associated with increased levels of anxiety and pain compared with transperineal ultrasound assessment

Prenatal-Onset Niemann-Pick Type C Disease with Nonimmune Hydrops Fetails

Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum ranges from a prenatal severe presentation to an adult-onset chronic neurodegenerative disease. Data about prenatal presentation of NPC are limited. A female newborn was born at 342 weeks' gestation with a birth weight of 3070 g, and transferred to the Neonatal Intensive Care Unit because of nonimmune hydrops fetalis (Nil-IF) and respiratory distress. On admission, a physical examination revealed skin edema, mild respiratory distress, and abdominal distention due to massive ascites. Hepatosplenomegaly and cholestasis increased progressively and bleeding diathesis occurred. Results of an abdominal ultrasonography showed hepatosplenomegaly and segmental multicystic dysplastic left kidney. Foamy cells with a lysosomal phospholipid storage pattern compatible with NPC were found in the bone marrow smear. Cultured fibroblasts showed a strongly elevated filipin staining (classical NPC cellular phenotype), establishing the diagnosis of NPC. The infant died on the 52nd day of life because of respiratory distress due to lung involvement of NPC, massive ascites, and progressive liver failure. Results of an autopsy showed multiorgan storage disease involving the liver, spleen, lymph nodes, thymus, lungs, and brain. Here, we present a preterm infant with NIHF as a. sign of severe prenatal-onset NPC and review the literature. Copyright (C) 2013, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.WoSScopu

The Rate of Hepatitis B and C Virus Infections and the Importance of HBV Vaccination in Children with Acute lymphoblastic Leukemia

Aim: The aim of the study was to evaluate the rate of hepatitis B and C virus infection and emphasize the importance of hepatitis B virus (HBV) vaccination in leukemic children. Methods: One hundred and sixty children who were treated for acute lymphoblastic leukemia (ALL) at Hacettepe University Faculty of Medicine, Pediatric Hematology Unit were included in the study. They were 71 (44.4%) girls and 89 (55.6%) boys with a mean age of 6.45 ± 3.87 years. Results: Of these 160 children, 22 (13.8%) were anti‐HBs‐positive and 138 (86.2%) were anti‐HBs‐negative at the diagnosis of ALL. Among the 138 anti‐HBs‐negative children, 67 (41.9%) were vaccinated for HBV during maintenance chemotherapy, and 71 (44.3%) could not be vaccinated. Two (2.9%) vaccinated and 22 (30.9%) unvaccinated children developed HBV infection during the follow‐up period (P < 0.001). Among 160 children treated for ALL, 24 (15.0%) had HBV, three (1.9%) had hepatitis C virus (HCV) infections, and 29 (18.1%) had toxic hepatitis. The majority of patients with HBV or HCV infections had high risk (HR) protocol, whereas most of the patients with toxic hepatitis had low risk (LR) protocol, especially St Jude Total XIII LR protocol. Conclusion: Viral hepatitis and toxic hepatitis were observed more commonly in the HR and LR group, respectively, of ALL patients. This could be explained by intensive chemotherapy and more heavy blood product administration in the HR group and the chemotherapeutic agents of methotrexate and 6‐mercaptopurine, basic drugs used in the LR group. In respect to protection from these complications, periodical liver function tests, serological tests for HBV and HCV, and vaccination for HBV should be performed for all children with ALL.Wo

Evaluation Of Central Nervous System In Patients With Glycogen Storage Disease Type 1A

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities. Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a.WoSScopu