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Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency

Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8+ T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs.

X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report

Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and natural killer (NK) cells. X-linked SCID (X-SCID) is its most common form. In this report, we describe a 4-month-old male with X-SCID who presented invagination and also showed hemophagocytic lymphohistiocytosis (HLH). The patient was admitted to our hospital with fever, cough, vomiting, monoliasis, and hepatosplenomegaly in postoperative period at the age of 3 months. The laboratory finding revealed no detectable T cells and hypogammaglobulinemia despite normal B-cell counts. Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene (IL2RG); namely, we detected the novel mutation in the splice-site of exon 5 (c.595-1G>T). The patient died due to infection at the age of 4 months. Also, this case is the first report that describes the patient with X-SCID with presented invagination.

Comprehensive Analysis of Liberal and Restrictive Transfusion Strategies in Pediatric Intensive Care Unit

Background We prospectively compared restrictive and liberal transfusion strategies for critically ill children regarding hemodynamic and laboratory parameters. Methods A total of 180 children requiring packed red blood cells (PRBCs) were randomized into two groups: the liberal transfusion strategy group (transfusion trigger < 10 g/dL, Group 1) and the restrictive transfusion strategy group (transfusion trigger ≤ 7 g/dL, Group 2). Basal variables including venous/arterial hemoglobin, hematocrit and lactate levels; stroke volume; and cardiac output were recorded at the beginning and end of the transfusion. Oxygen saturation, noninvasive total hemoglobin, noninvasive total oxygen content, perfusion index (PI), heart rate and systolic and diastolic blood pressures were assessed via the Radical-7 Pulse co-oximeter (Masimo, Irvine, CA, USA) with the Root monitor, initially and at 4 h. Results In all, 160 children were eligible for final analysis. The baseline hemoglobin level for the PRBC transfusion was 7.38 ± 0.98 g/dL for all patients. At the end of the PRBC transfusion, cardiac output decreased by 9.9% in Group 1 and by 24% in Group 2 (p  < 0.001); PI increased by 10% in Group 1 and by 45% in Group 2 (p  < 0.001). Lactate decreased by 9.8% in Group 1 and by 31.68% in Group 2 (p < 0.001). Conclusion Restrictive blood transfusion strategy is better than liberal transfusion strategy with regard to the hemodynamic and laboratory values during the early period. PI also provides valuable information regarding the efficacy of PRBC transfusion in clinical practice.

Comparison Between Dead Space/Tidal Volume and Work of Breathing in Predicting Extubation Failure in Critically Ill Children

Öz 10 DOI: 10.4274/cayd.28199 J Pediatr Emerg Intensive Care Med 2018;5:10-14 Halil Keskin1, Muhammet Şükrü Paksu2, Nazik Yener2, Özlem Temel Köksoy2, İbrahim Kartal3, Canan Albayrak3, Davut Albayrak3 1Atatürk University Faculty of Medicine, Division of Pediatric Intensive Care Unit, Erzurum, Turkey 2Ondokuz Mayıs University Faculty of Medicine, Division of Pediatric Intensive Care, Samsun, Turkey 3Ondokuz Mayıs University Faculty of Medicine, Division of Pediatric Hematology, Samsun, Turkey Research Article / Özgün Araştırma Address for Correspondence/Yazışma Adresi: Halil Keskin MD, Atatürk University Faculty of Medicine, Division of Pediatric Intensive Care, Erzurum, Turkey Phone: +90 533 434 67 34 E-mail: keskinpediatrize@gmail.com ORCID ID: orcid.org/0000-0003-4491-1327 Received/Geliş Tarihi: 27.11.2017 Accepted/Kabul Tarihi: 29.01.2018 Copyright 2018 by Society of Pediatric Emergency and Intensive Care Medicine Journal of Pediatric Emergency and Pediatric Intensive Care published by Galenos Yayınev

Home Mechanical Ventilation in Children: Erciyes University Experience

Objective: In this study it was aimed to share experiences and to draw attention to the problems about home mechanical ventilation (HMV) which is used in the treatment of patients with chronic respiratory failure and is increasingly becoming widespread all over the world. Materials and Methods: The medical records of the patients having HMV due to chronic respiratory failure between January 2009 and March 2016 at Erciyes University Medical Faculty Pediatric Intensive Care Unit were retrospectively analyzed. Results: Twenty nine patients (14 males, 15 females) with a median age of 29 months (8.5127.5) to start HMV application were included in this study. The median hospitalization time of the patients was 75 days (44-115) and the median follow up time after discharge was 110 days (52.5510). Twenty-five (86.2%) patients had been followed up due to neurologic diseases, 4 patients (13.8%) due to lung diseases. Twenty five (86.2%) patients (13 males, 12 females) with a median age of 17 month (8-93) received invasive mechanical ventilation and 4 (13.8%) patients (2 males, 2 females) with a median age of 162 month (73.5-189) received non-invasive mechanical ventilation. Conclusion: In our country pediatric intensive care bed capacity is limited and HMV is a good option for alleviating the burden of chronic patients.