Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.

Purpose: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutations in RAB3GAP1 in a Turkish female patient with MS and two siblings with WARBM. We also present a review of MS patients as well as all reported RAB3GAP1 pathogenic mutations in the literature.

Are diffuse and limited juvenile systemic sclerosis different in clinical presentation? Clinical characteristics of a juvenile systemic sclerosis cohort.

Introduction: Juvenile systemic sclerosis is an orphan disease. Currently, the majority of juvenile systemic sclerosis cohort studies are retrospective in design without standardized assessment. This study was conducted prospectively to investigate the difference in manifestations of limited cutaneous juvenile systemic sclerosis and diffuse cutaneous juvenile systemic sclerosis subtypes.

Assessment of the 24th Week Success of Anti-Retroviral Therapy in the Action against HIV in Istanbul Database: Results from a Region with Increasing Incidence.

We aimed to assess the 24-week virological and immunological success of the treatment of treatment-naive and treatment-experienced patients included in the Action against HIV in Istanbul (ACTHIV-IST) database. The ACTHIV-IST database was screened retrospectively from January 2012 to January 2014. The data for these patients such as age, sex, treatment-naive or treatment-experienced status, date of diagnosis, date of commencing antiretroviral therapy, antiretroviral therapy regimen, CD4+ cell count, and viral load before and after therapy were analyzed.

Serological Evidence of Tick-Borne Encephalitis and West Nile Virus Infections Among Children with Arthritis in Turkey.

Tick-borne encephalitis virus (TBEV) and West Nile virus (WNV) are mainly transmitted by arthropod vectors to vertebrate hosts including humans, resulting in fever and neurological signs. The aim of this study was to investigate the presence of antibodies to TBEV and WNV, and TBEV-RNA and WNV-RNA in Turkish children with fever and/or arthritis. For this purpose, 110 sera and buffy-coat samples were collected; sera were analyzed by indirect enzyme-linked immunosorbent assay for the presence of IgM and IgG antibodies to TBEV and WNV, and buffy-coat-derived white blood cells were analyzed by quantitative real-time RT-PCR for TBEV-RNA and WNV-RNA.

Update on the treatment of Behçet's syndrome.

Behçet's syndrome (BS) is a complex disease that shows important heterogeneity in clinical findings and physiopathology. Its treatment can be problematic as BS manifestations in different organs may respond differently to the same drug. The cornerstone of therapy for inducing remission is corticosteroids whereas immunomodulatory and immunosuppressive agents such as colchicine, azathioprine, cyclosporine-A, interferon-alpha, and cyclophosphamide are used as steroid-sparing agents and to prevent further relapses.

A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α.

A 9.5-year-old boy was referred with a 2-year history of recurrent fever, myalgia, abdominal pain and various neurological manifestations associated with increased acute phase reactants and IgG level. During the recent episode, severe hypertension and right-sided hemiparesis developed and angiography demonstrated irregularities and stenosis in renal and mesenteric artery branches.

Juvenile Scleroderma: A Referral Center Experience.

Objectives: This study aims to evaluate the demographic and clinical features, laboratory data, treatment modalities, and outcomes of juvenile systemic sclerosis (JSS) and juvenile localized scleroderma (JLS) patients at a referral pediatric rheumatology center in Turkey.

Patients And Methods: Medical records of a total of 57 patients, including 29 with JSS (1 male, 28 females; mean age 18.3±3.

Clinical and histopathological prognostic factors affecting the renal outcomes in childhood ANCA-associated vasculitis.

Objective: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are very rare in childhood with an increased risk of morbidity and mortality. We aimed to evaluate renal prognostic factors in childhood AAV from the perspective of ANCA serotype, histopathological classification, and five-factor score (FFS).

Methods: Pediatric AAV patients from 11 referral centers in Turkey had been included to the study.

Pediatric rheumatology in Turkey.

Pediatric Rheumatology is an emerging specialty in Turkey with increasing number of available centers and specialists all over the country. In this paper, we sought to provide an overview on pediatric rheumatology service in our country, as well as to assess the principle published literature from Turkey in this field. A systematic literature search has been performed to achieve the significance and the impact of this manuscript.

Faecal but not serum calprotectin levels look promising in predicting active disease in Behçet's syndrome patients with gastrointestinal involvement.

Objectives: The faecal calprotectin (FC) test is widely used as a non-invasive method for identifying intestinal inflammation. A recent study suggested FC may help to diagnose gastrointestinal involvement of Behçet's syndrome (GIBS). We aimed to determine whether FC helps to distinguish active from inactive intestinal involvement in GIBS.

Comparison of subdermal and perforator delay techniques on a rat flap model.

Background: In this study, we investigated the subdermal and perforator delay phenomena as a method to improve flap survival.

Materials And Methods: In this experimental study, we used 24 rats in three groups. In the control group, the dorsal flaps were elevated and reinserted back to their place.

Effect of trail C1595T variant and gene expression on the pathogenesis of non-small cell lung cancer.

It is known that disorders in apoptosis function play an important role in the pathogenesis of many types of cancer, including lung cancer. Tumor necrosis factor related apoptosis inducing ligand (TRAIL), a type II transmembrane protein, is a death ligand capable of inducing apoptosis by activating distinctive death receptor. Our purpose in this study is to investigate the gene polymorphisms in TRAIL molecular pathway and TRAIL gene expression levels in non-small cell lung cancer (NSCLC) patients in terms of pathogenesis and prognosis of the disease.

The frequency of infections in patients with juvenile idiopathic arthritis on biologic agents: 1-year prospective study.

Introduction: The most effective and concurrently the safest treatment regimen selection is important to provide early control of juvenile idiopathic arthritis (JIA) and to have an acceptable quality of life. The effectivity of biologic agents as well as standard disease-modifying drugs is well documented in treatment of JIA. In spite of their high benefit, these drugs have the risk of serious infections.

Polyarteritis nodosa: lessons from 25 years of experience.

Objectives: Polyarteritis nodosa is a necrotising vasculitis of predominantly medium size vessels. The present study aimed to summarise the characteristics of PAN patients, and also analyse the trend of decreasing PAN frequency in the last 25 years.

Methods: PAN patients followed up between 1990 and 2015 were included.

The frequency of juvenile spondyloarthropathies in childhood familial Mediterranean fever.

Objectives: The aim of this study is to evaluate the frequency of juvenile spondyloarthropathies (JSpA) in childhood familial Mediterranean fever (FMF) patients from a single tertiary centre. Additionally, we aimed to investigate the main clinical characteristics of FMF patients with coexistence of JSpA clinical features.

Methods: We evaluated 323 paediatric FMF patients who were followed at our clinic.

Subdermal nitrous oxide delivery increases skin microcirculation and random flap survival in rats.

Random skin flaps are essential tools in reconstructive surgery. In this study, we investigated the effect of subdermal nitrous oxide (NO) application on random flap survival. In this experimental study, we used 21 female rats in three groups.

Evaluation of six-minute walk test in juvenile systemic sclerosis.

The objective is to evaluate the walking distance and oxygen desaturation during the six-minute walk test and to establish correlations between the test results and other clinical findings so to assess the reliability of the test for evaluation of children with juvenile systemic sclerosis (jSSc). A total of 25 jSSc, 27 juvenile systemic lupus erythematosus (jSLE), and 30 healthy controls were included. The test is conducted according to the guidelines recommended by the American Thoracic Society, standardized in 2002.

Standards of practice in acute ischemic stroke intervention: International recommendations.

This article was first published in JNIS. Cite this article as: Pierot L, Jayaraman MV, Szikora I, et al. Standards of practice in acute ischemic stroke intervention: international recommendations.

Efficacy and Safety of Sarilumab for the Treatment of Posterior Segment Noninfectious Uveitis (SARIL-NIU):: The Phase 2 SATURN Study.

Purpose: To assess efficacy and safety of sarilumab, a human anti-interleukin-6 receptor antibody, for treatment of posterior segment noninfectious uveitis (NIU).

Design: Randomized, double-masked, placebo-controlled, phase 2 study.

Participants: Fifty-eight patients (eyes) with noninfectious intermediate, posterior, or panuveitis.

Canakinumab in patients with systemic juvenile idiopathic arthritis and active systemic features: results from the 5-year long-term extension of the phase III pivotal trials.

Objectives: To evaluate the long-term efficacy and safety of canakinumab in patients with active systemic juvenile idiopathic arthritis (JIA).

Methods: Patients (2-19 years) entered two phase III studies and continued in the long-term extension (LTE) study. Efficacy assessments were performed every 3 months, including adapted JIA American College of Rheumatology (aJIA-ACR) criteria, Juvenile Arthritis Disease Activity Score (JADAS) and ACR clinical remission on medication criteria (CR).

Impulse control disorders in patients with prolactinoma receiving dopamine agonist therapy: a prospective study with 1 year follow-up.

Objective: To assess prospectively the prevalence of impulse control disorders (ICD), psychiatric symptoms, and their clinical correlates in patients with prolactinoma receiving dopamine agonists (DA) in comparison to those with non-functioning pituitary adenomas (NFA) and healthy controls (HC).

Methods: A total of 25 patients with prolactinoma, 31 with NFA, and 32 HCs were included in the study. All patients and controls were screened for the presence of ICDs and other psychiatric disorders using revised version of Minnesota Impulsive Disorders Interview (MIDI-R), Barratt Impulsiveness Scale (BIS-11), Symptom Check List (SCL-90-R) questionnaire and Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI).