Mannose-Binding Lectin 2 Gene Polymorphism in PANDAS Patients.

INTRODUCTION: Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS), a subgroup of obsessive-compulsive disorder (OCD), has received much attention even though the specific underlying mechanisms remain unknown. Mannose-binding lectin (MBL) is a key factor in the innate immune response. The aim of this study was to investigate the role of MBL2 gene polymorphisms in pediatric OCD patients diagnosed as PANDAS, PANDAS-Variant and non-PANDAS. METHODS: The study included 102 pediatric OCD patients (59 [57.8% ] PANDAS, 20 [19.6% ] non-PANDAS, and 23 [22.5% ] PANDAS-Variant) and 60 healthy controls. Polymorphisms at codon 52, 54 and 57 of the MBL2 gene were investigated. RESULTS: Codon 54 polymorphism and any variant of MBL2 gene were significantly more frequent in the OCD group than in the control group (OR=2.97, 95% CI: 1.26-6.97; and OR=2.66, 95% CI: 1.32-5.38, respectively). According to regression analysis, the presence of any variant of MBL2 gene was found in 14.50-fold increased frequency in the PANDAS subgroup compared with the non-PANDAS subgroup (95% CI: 2.49-84.19). CONCLUSIONS: Our findings support an association between MBL2 genotypes and pediatric OCD, particularly PANDAS-OCD.

Evaluating Choroidal Characteristics in Systemic Sclerosis Using Enhanced Depth Imaging Optical Coherence Tomography.

PURPOSE: To evaluate choroidal thickness (CT) and investigate the involvement of choroidal circulation in patients with systemic sclerosis (SSc). METHODS: A total of 120 eyes of 60 SSc patients and 60 eyes of 30 healthy controls were evaluated. CT measurements were performed at the subfoveal region, 1000 µm nasal and 1000 µm temporal to the fovea, using enhanced depth imaging optical coherence tomography. CT measurements were compared between the patients and controls. RESULTS: The average subfoveal, parafoveal nasal and parafoveal temporal CT were significantly thinner in SSc patients when compared with healthy controls (297.77 ± 60.8 µm vs 339.8 ± 50.4 µm; 267.32 ± 51.1 µm vs 308.65 ± 49.9 µm; 270.63 ± 46.3 µm vs 309.22 ± 42.4 µm, respectively; p<0.001 for all). CONCLUSIONS: Reduced CT in SSc patients supports the hypothesis of widespread vascular injury, including the ocular microcirculation.

Vitamin D insufficiency in a boy with obsessive-compulsive disorder.

Vitamin D deficiency not only causes low bone mass but also may lead to neuropsychiatric disorders. In the present case, vitamin D supplementation reduced obsessive-compulsive disorder (OCD) symptoms associated with streptococcal infection in a 7-year-old boy. Sudden onset of symptoms, including excessive hand washing and fear of touching anything, had occurred 1 month before presentation. Although there are few studies on a possible causal relationship between vitamin D and neuropsychiatric disorders, the present report; together with previous data, suggest an etiological role of vitamin D-related immune processes.

Erythema elevatum diutinum coexisting with ankylosing spondylitis.

A 43-year-old woman presented to our hospital with the complaint of a reddish-purple rash on the extensor sides of her forearms. She had been diagnosed with ankylosing spondylitis 7 years ago. On physical examination, reddish-purple nodules were detected on the pretibial areas of both legs and extensor sides of both hands and forearms. Neutrophil, eosinophil, lymphocyte, and mixed-type leukocyte infiltration and erythrocyte extravasation were observed in skin biopsy. Erythema elevatum diutinum (EED) was diagnosed. For treatment, sulphasalazine, colchicine, and diclofenac were started. After 3 months of treatment, the lesions were healed. To the best of our knowledge, this is the first report of EED coexisting with ankylosing spondylitis.

Pigmented purpuric dermatosis associated with primary antiphospholipid syndrome.

Pigmented purpuric dermatosis (PPD) is a group of chronic disorders characterized by the extravasation of erythrocytes and marked hemosiderin deposits in the dermis. Schamberg disease is a subtype of pigmented purpuric dermatosis in which nonpalpable purpura is prominent on the lower extremities. No cases of primary antiphospholipid syndrome and pigmented purpuric dermatosis have so far been reported in the literature. We herein report a case of pigmented purpuric dermatosis associated with primary antiphospholipid syndrome.

Serum eosinophil cationic protein levels in Behçet's disease and its relation to clinical activity.

BACKGROUND: Eosinophil cationic protein (ECP) is a matrix protein of eosinophils and has been reported to reflect eosinophil activity. Few studies have examined the role of eosinophils in the pathogenesis of Behçet's disease. OBJECTIVE: The purpose of the present study was to investigate the serum ECP levels in BD and its relation to clinical activity. METHODS: Forty-seven consecutive patients with BD (22 active, 25 inactive), 21 age and sex matched patients with allergic rhinitis and 21 healthy controls were evaluated cross-sectionally. The serum ECP levels were measured by the flourescein enzyme immunoassay method. RESULTS: Mean serum ECP levels of active patients with BD (34.28 ± 23.43 µg/L) were found to be significantly lower than those of the inactive patients (65.69 ± 46.32 µg/L, p <0.05) and the controls (62.92 ± 30.49 µg/L, p <0.01) . Behçet patients with oral aphthous lesions had significantly lower mean serum ECP levels (n=21, 38.82 ± 33.38 µg/L) than those without aphthous lesions (n=26, 60.81 ± 43.21µg/L) (p = 0.041). Similarly patients with arthritis had lower serum ECP values (n=6, 22.12 ± 9.47 µg/L) than those without arthritis (n = 41, 55.21 ± 41.35 µg/L) (p =0.029). CONCLUSIONS: Lower ECP levels in the active phase of the disease may be a result of decreased production due to the activation of Th1 cytokines.

Impact of Helicobacter pylori on the clinical course of recurrent aphthous stomatitis.

BACKGROUND: Recurrent aphthous stomatitis is one of the most common lesions of oral mucosa. Helicobacter pylori is suggested as one of the etiological agents of recurrent aphthous stomatitis. Here, we conduct a study for evaluating the impact of H. pylori eradication on clinical course of recurrent aphthous stomatitis. METHODS: Forty-six patients with minor aphthous lesions were enrolled. The number of RAS lesions at last 6 months and vitamin B(12) levels were recorded. All patients were detected for H. pylori with endoscopic biopsy. H. pylori was positive in 30 patients and negative in 16 patients. H. pylori-positive 30 patients received eradication therapy. Three months after therapy, patients were re-evaluated with urea breath test; 18 patients were negative (eradicated), and the remainders (12 patients) were positive (non-eradicated) for H. pylori. 6 months after eradication, vitamin B(12) levels and number of aphthous lesions at 6 months were recorded. RESULTS: Vitamin B(12) levels were significantly increased in H. pylori-eradicated group (P = 0.001), whereas no significant change was found in non-eradicated group (P = 0.638). Mean number of aphthous lesions (per 6 months) of H. pylori-eradicated group was significantly decreased after eradication (P = 0.0001); in the non-eradicated group, no significant change was found (P = 0.677). In Hp-positive group, number of RAS lesions and vitamin B(12) levels were negatively correlated when evaluated both before and after eradication. CONCLUSIONS: This study provides evidence to support the beneficial effect of H. pylori eradication in patients with recurrent aphthous stomatitis. The underlying mechanism might be the increase in vitamin B(12) levels after eradication.

Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).

Hyperimmunoglobulin D syndrome (HIDS) is one of the autoinflammatory syndromes which are characterized by febrile attacks. Duration and frequency of the febrile attacks, as well as typical organ involvements vary greatly. Recently, it is possible to reach more reliable data by the possibilities that are opened up by molecular genetics in order to highlight the aetiopathogenesis of this group of diseases. Typical patients with HIDS have an onset of disease in the first year of life. Here, we report four Turkish HIDS cases; three of whom, the symptoms started at a later age. The diagnoses were made by relevant clinical symptoms along with MVK mutations detected by DNA sequencing method. As summarised in this article, HIDS could be presented with a broad spectrum of symptoms. Although most of the HIDS patients are reported from Europe and especially Dutch ancestry, case reports are presented from all over the world. For this reason, HIDS should be kept in mind for the differential diagnosis of periodic fever syndromes or before accepting an FMF patient as colchichine resistant. We suppose that the phenomenon of "later-onset HIDS" should shed light into unresolved clinical problems of patients with periodic fever. Especially in countries that FMF is more frequent such as Turkey, even though the symptoms start later than classic cases, HIDS should be kept in mind for differential diagnosis of periodic fever syndromes.