Basak Yildiz

Relapsing polychondritis in a child with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is associated with recurrent infections and autoimmunity. The most common autoimmune conditions are idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, chronic arthritis, and gastrointestinal inflammation. Relapsing polychondritis (RP) is an episodic and progressive systemic inflammatory disease, characterized by auricular chondritis, polyarthritis, nasal, and respiratory tract chondritis. Autoimmunity to cartilage‐related components is thought to be involved in its pathogenesis. So far, RP has not been included within many autoimmune conditions that have been reported in patients with either CVID or any other primary immunodeficiency. In this report, a case of CVID with RP and chronic arthritis is presented.

Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder – a new syndrome?

Abstract:  Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as transient form. Cases that require lifelong insulin therapy can be described as permanent condition. This fraction of cases is less common than the transient form. There are no clinical features that can predict whether a neonate with diabetes mellitus but no other dysmorphology will eventually have permanent neonatal diabetes mellitus (PNDM) or transient neonatal diabetes mellitus. Some metabolic or genetic defects such as complete deficiency of glucokinase or heterozygous activating mutations of KCNJ11, encoding Kir6.2, were found in patients with PNDM. A preterm female infant with a gestational age of 36 wk was admitted to the neonatal intensive care unit in the first hours of life due to prematurity and intra‐uterine growth retardation. She was diagnosed as having arthrogryposis multiplex congenita on the first day. Hyperglycemia was detected on the third day of life, and she required insulin treatment. The patient is now 6 yr old with PNDM, arthrogryposis multiplex, neurogenic bladder, immune deficiency, constipation, and ichthyosis. Is this a new form of neonatal diabetes mellitus?

Hemophagocytic lymphohistiocytosis associated with H1N1 virus infection and visceral leishmaniasis in a 4.5-month-old infant

We present a case of a 4.5-month-old boy from Turkey with hemophagocytic lymphohistiocytosis (HLH) associated with H1N1 virus and Leishmania spp. coinfection. Because visceral leishmaniasis can mimic hematologic disorders like HLH, it is important to rule out this clinical condition before starting immunosuppressive therapy. In our case, treatment with liposomal amphotericin B resulted in a dramatic resolution of clinical and laboratory abnormalities.

Ten year retrospective evaluation of the seasonal distribution of agent viruses in childhood respiratory tract infections.

AIM Infections caused by respiratory viruses sometimes occur as epidemias or pandemias and are an important public health problem in the whole world. These viral agents may lead to severe respiratory diseases especially in young children and in the elderly. The aim of this study was to determine the seasonal distribution of agent viruses in childhood respiratory infections in our region. MATERIAL AND METHODS In this study, nasopharyngeal swab sample was obtained from 1 326 patients who presented to Ege University, Medical Faculty Childrens Hospital between 2002 and 2012 and who were thought to have respiratory tract infection. Influenza virus type A and B, respiratory syncytial virus, adenovirus and parainfluenza virus type 1-3 were investigated using shell-vial cell culture method and direct fluorescent antibody test and/or multiplex PCR test. Parainfluenza virus type 4, human metapneumovirus, rhinovirus, coronavirus, human bocavirus were investigated using multiplex PCR test. The seasonal distributions of the viruses were determined according to the results obtained from Ege University Medical Faculty, Department of Medical Microbiology Clinical Virology Laboratory. Approval was obtained from the ethics committee (Ege University Clinical Researches Ethics Committee, 12.02.2013, number: 13-1/46). RESULTS The majority of the patients who presented were outpatients (n:888, 67%) and the remainder were hospitalized patients (33%, n:438). Respiratory viruses were found in 503 of the nasopharyngeal swab samples (38%). Parainfluenza and respiratory syncytial virus were found most frequently in December-february (58% and 59%, respectively, influenza viruses were found most frequently in November-december (72%) and adenoviruses were found most frequently in may-september (56%). CONCLUSION Although only supportive therapies are administered generally in viral infections, viral investigations are important in terms of determining the measures to be taken by determining the causes as well as in terms of establishing a general database. Another benefit of this study would be strengthening clinical approach to patients and decreasing unnecessary antibiotic use.

PReS-FINAL-2206: Clinical experiences in patients with chronic recurrent multifocal osteomyelitis (CRMO)

Chronic recurrent multifocal osteomyelitis (CRMO) is a form of chronic nonbacterial osteitis (CNO) characterized by one or more lytic bone lesions with no identifiable cause. (CRMO) is a rare (prevalence less than 1/1,000,000) auto-inflammatory disorder, characterized by relapsing and remitting episodes of pain related to the presence of foci of sterile bone inflammation.

Histopathological and molecular analysis in dermis and epidermis of patients with systemic and localized scleroderma

Scleroderma is a highly complex disorder in its clinical manifestations and pathogenesis. It has a wide range of clinical manifestations due to varying degrees of vasculopathy, autoimmunity, altered endothelium function, and abnormal fibrosis which were accused in the pathogenesis of the disease.