Erdal Sag

Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab

Myasthenia gravis is among the rare complications after allogeneic hematopoietic stem cell transplantation and is usually associated with chronic GVHD. Herein, we report a 2‐year and 10 months of age female with Griscelli syndrome, who developed severe myasthenia gravis at post‐transplant +22nd month and required respiratory support with mechanical ventilation. She was unresponsive to cyclosporine A, methylprednisolone, intravenous immunoglobulin, and mycophenolate mofetil and the symptoms could only be controlled after plasma exchange and subsequent use of rituximab, in addition to cyclosporine A and mycophenolate mofetil maintenance. She is currently asymptomatic on the 6th month of follow‐up. Pediatr Blood Cancer 2014;61:928–930.

Autoinflammatory Diseases with Periodic Fevers.

Purpose of ReviewOne purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients.Recent FindingsFamilial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation. Recently much collaborative work has been done to understand the characteristics of these patients and to develop recommendations to guide the physicians in the care of these patients. These recent recommendations will be summarized for all four diseases.SummaryFMF is the most common periodic fever disease. We need to further understand the pathogenesis and the role of single mutations in the disease. Recently, the management and treatment of the disease have been nicely reviewed. CAPS is another interesting disease associated with severe complications. Anti-interleukin-1 (anti-IL-1) treatment provides cure for these patients. TRAPS is characterized by the longest delay in diagnosis; thus, both pediatricians and internists should be aware of the characteristic features and the follow-up of these patients. HIDS/MVKD is another autoinflammatory diseases characterized with fever attacks. The spectrum of disease manifestation is rather large in this disease, and we need further research on biomarkers for the optimal management of these patients.

Hyperthyroidism After Allogeneic Hematopoietic Stem Cell Transplantation: A Report of Four Cases.

Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for many hematological disorders, primary immunodeficiencies, and metabolic disorders. Thyroid dysfunction is one of the frequently seen complications of HSCT. However, hyperthyroidism due to Graves’ disease, autoimmune thyroiditis, and thyrotoxicosis are rare. Herein, we report a series of 4 patients who were euthyroid before HSCT but developed hyperthyroidism (3 of them developed autoimmune thyroid disease) after transplantation.

Expression of Myxovirus-resistance Protein A: A Possible Marker of Muscle Disease Activity and Autoantibody Specificities in Juvenile Dermatomyositis

To evaluate the relationship between expression of myxovirus‐resistance protein A (MxA) protein on muscle biopsies by immunohistochemistry and disease activity in juvenile dermatomyositis (JDM) patients. Also, another aim was to investigate whether the expression of MxA is related with myositis‐specific autoantibodies (MSA) status in JDM patients.

AB1452-HPR Which one has a greater effect on function and the psychosocial status in jia?: disease type or the presence of pain

Background Juvenile idiopathic arthritis (JIA) is a chronic inflammatory childhood disease with symptoms such as joint inflammation, pain and loss of quality of life.1 Types of disease and the presence of pain can impact the child psychosocially, as well as affecting functional activity.2 Objectives The aim of this study is to examine the results of functional and psychosocial status according to the disease type and the presence of pain symptoms in children with JIA. Methods The study included 71 children diagnosed with JIA who applied to the Hacettepe University İhsan Doğramacı Children’s Hospital Rheumatology Department. Following the collection of demographic information, functional status was assessed with the Child Health Assessment Questionnaire (CHAQ) and psychosocial and functional status was assessed with the scale developed in Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation for functional and psychosocial status of children with rheumatism by Edibe Ünal.3 Children were divided into groups according to disease type as oligoarthritis or polyarthritis and the presence or absence of pain. Results Table 1 shows the mean age and numbers of children. There was no difference between the groups according to disease type (p>0,05). On the other hand, comparing scores for the CHAQ total, CHAQ general VAS assessment, functional and psychosocial status according to the presence or absence of pain revealed significant differences (p<0,05).Abstract AB1452HPR – Table 1 Assessment values and comparison statistics Disease Type Pain Oligoarthritis(n=51) Polyarthritis(n=20) p Present(n=21) Absent(n=50) p Age (years) 10,88±3,81 13,50±3,92 0016 11,71±3,77 11,58±4,12 0885 CHAQ Total 0,28±0,29 0,46±0,41 0127 0,51±0,4 0,26±0,27 0012 CHAQ (General VAS) 2,49±2,43 3,93±3 0068 4,46±2,86 2,24±2,3 0002 Function (range 0–30) 4,72±4,85 5,05±6,32 0766 7,85±6,6 3,54±4,02 0004 Psychosocial (range 0–30) 23±5,67 14,5±5,82 0363 16±5,74 12,34±5,4 0012 Function; Psychosocial; Functional and Psychosocial subscales of Ünal’s scale.3 Conclusions We conclude that pain has a greater effect on functional, psychosocial and overall disease assessment in children with JIA when compared to the disease type. Thus, it must be taken into consideration that child’s ability to cope with pain should be improved. References [1] Angelo Ravelli, Alberto Martini. Juvenile idiopathic arthritis.The Lancet2007, 369(9563); 767–778. [2] Laura E Schanberga, John C Lefebvreb, et al. Pain coping and the pain experience in children with juvenile chronic arthritis. Pain1997, 73(2); 181–189. [3] Kısacık Pınar,Ünal Edibe, et al. Juvenil İdiyopatik Artritli Hastalarda Çok Yönlü Bir Değerlendirme Sistemi Oluşturulması Delphi Çalışması. 2016, Annals Of Paediatric Rheumatology Disclosure of Interest None declared

IgA vasculitis (Henoch–Schönlein purpura) in children

ABSTRACT Introduction: IgA vasculitis/Henoch Schönlein Purpura (IgAV/HSP) is the most common childhood vasculitis in most parts of the world. This is basically a self-limited disease, however the association of gastrointestinal and renal morbidity is well known. Areas covered: This review focuses on the classification of IgAV/HSP and management of specific organ involvements based on recent recommendations. Expert opinion: The new pediatric classification criteria allow pediatricians to pursue multicenter controlled studies for the unmet needs in the disease. Clinicians should be aware of the early morbidity associated with GI involvement and the late morbidity associated with renal involvement. Recurrences are possible. Treatment depends on the extent of clinical features and organ involvement.

Childhood systemic vasculitis

Vasculitides are characterized by inflammation of the vessel wall. Most of the vasculitides tend to occur in vessels of a specific size and certain target organs. In this review, we discuss each specific childhood vasculitis according to the latest Chapel Hill Consensus Conference 2012 nomenclature system and the Ankara 2008 classification criteria. We have also reviewed the clinical and laboratory characteristics and the recent treatment recommendations for the vasculitides we encounter in children.

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?

Spinal muscular atrophy is an autosomal recessive disorder characterized by progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy, and weakness. Herein, we report a 4-month-old male infant who presented to our hospital with an abdominal mass that was diagnosed as neuroblastoma and spinal muscular atrophy type I. We would like to discuss the course and differential diagnosis with an algorithm leading to the diagnosis in this peculiar patient. To our knowledge, coexistence of spinal muscular atrophy type I and neuroblastoma is defined for the first time in the literature.

Sub-phenotyping of juvenile dermatomyositis: can it assist clinical decisions?

Juvenile Dermatomyositis (JDM) is a rare serious disease (affecting 2-3 million children/year) presenting with rash and proximal muscle weakness. Serious complications can include calcinosis, GI ulceration, interstitial lung disease (ILD) and even death. It is becoming clear that JDM is a heterogeneous condition. Dividing JDM into sub-phenotypes would allow better prediction of disease severity and more targeted treatments. We have identified novel auto-antibodies in subtypes of JDM that may correlate with specific phenotypes.

Tubuloreticular inclusions in juvenile dermatomyositis: a diagnostically useful marker?

Juvenile Dermatomyositis (JDM) is a rare life threatening disease affecting children. Symptoms include severe proximal muscle weakness and characteristic skin rashes. Vascular pathology is often a key finding in JDM including typical features of capillary drop out and abnormal blood vessel endothelial cells. We have observed that another common finding in JDM biopsies is the presence of tubuloreticular inclusions (TRI) detected by electron microscopy (EM) in blood vessel endothelial cells in muscle and the overlying skin. These are tubule-like structures within cisternae of endoplasmic reticulum.