Interstitial cystitis: a rare manifestation of primary Sjögren’s syndrome, successfully treated with low dose cyclosporine

Chronic interstitial cystitis (IC), mostly affecting middle-aged women, is a very rare manifestation of primary Sjögren’s syndrome (pSS). Hereby, we report a 42-year-old woman with pSS, presenting with dysuria, urinary frequency, and suprapubic pain. She was diagnosed to have chronic IC, based upon the cystoscopic biopsy finding of chronic inflammation in the bladder wall. Systemic corticosteroid and azathioprine treatments together with local intravesical therapies were not effective. Therefore, cyclosporine (CSA) therapy was initiated. Initial low dose of CSA (1.5 mg/kg/d) improved the symptoms of the patient, with no requirement for dose increment. After 4 months of therapy, control cystoscopic biopsy showed that bladder inflammation regressed and IC improved. This case suggests that even low doses of CSA may be beneficial for treating chronic IC associated with pSS syndrome

Live Cell Imaging of Bone Marrow Stromal Cells on Nano-pitted and Polished Titanium Surfaces: A Micro-Incubator in vitro Approach

Current orthopedic implants are not conducive for optimal integration of the biomaterial with newly-formed tissue (osseointegration) inside a patient’s body. In this study, medical-rade Ti-6Al-4V was used as a substrate due to its biocompatibility and ability to facilitate cellular adhesion and proliferation. Live cell imaging was conducted on bone marrow stromal cells, genetically modified to express the green fluorescent protein (GFP), from the 24-96 hours growth period, with the first 24 hours of growth being held inside a lab-scale incubator. Periodic images were recorded on nanopitted anodized and polished Ti-6Al-4V substrates to study how substratestiffness influences adhesion and proliferation. Collected images were analyzed for mitosis, adhesion, and filopodia-stretchability using ImageJ, an image processing program. Images were enhanced in order to perform cell counts at 24, 48, 72, and 96 hours of growth. Continuous recordings were produced to account for the number of mitosis occurrences and cellular migration on each of the substrates. Based on the conducted experiments, it appears that polished Ti-6Al-4V has a higher cell adherence than “nanopitted” anodized surface and an improved rate of proliferation which may be because the cells once adhered on the nano-pitted surface have less ability to detach in-order to undergo mitosis.https://engagedscholarship.csuohio.edu/u_poster_2014/1004/thumbnail.jp

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

BACKGROUND AND OBJECTIVES: In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to estimate the fraction of children developing severe tuberculosis due to IL-12Rβ1 deficiency in areas endemic for tuberculosis and where parental consanguinity is common. METHODS AND PRINCIPAL FINDINGS: We searched for IL12RB1 mutations in a series of 50 children from Iran, Morocco, and Turkey. All children had established severe pulmonary and/or disseminated tuberculosis requiring hospitalization and were otherwise normally resistant to weakly virulent BCG vaccines and environmental mycobacteria. In one child from Iran and another from Morocco, homozygosity for loss-of-function IL12RB1 alleles was documented, resulting in complete IL-12Rβ1 deficiency. Despite the small sample studied, our findings suggest that IL-12Rβ1 deficiency is not a very rare cause of pediatric tuberculosis in these countries, where it should be considered in selected children with severe disease. SIGNIFICANCE: This finding may have important medical implications, as recombinant IFN-γ is an effective treatment for mycobacterial infections in IL-12Rβ1-deficient patients. It also provides additional support for the view that severe tuberculosis in childhood may result from a collection of single-gene inborn errors of immunity

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Akut astım atağı ile başvuran çocuklarda chlamydia pneumoniae seroprevalansı

Akut astım atağı ile başvuran çocuklarda Chlamydia pneumoniae seroprevelansı Akut solunum yolu enfeksiyonları astımlı çocuk hastalarda akut astım atağım tetikleyebilir. Birçok çalışmada viral enfeksiyonlarla akut astım ataklarının uyarıldığı gösterilmiştir. Bakteriyel enfeksiyonlar daha az dikkati çekmekle beraber son zamanlarda özellikle Chlamydia pneumoniae olası etken olarak bildirilmektedir. Çocuklardaki akut astım ataklarında C. pneumoniae enfeksiyonu seroprevalansını ve klaritromisin tedavisinin etkisini araştırmak üzere 25 akut astım ataklı çocuk çalışmaya alındı. Kontrol grubu son üç ay içinde solunum yolu enfeksiyonu geçirmemiş, kendisinde ve ailesinde astım ve atopi hikayesi olmayan 25 yaş-cinsiyet uyumlu çocuktan oluşturuldu. C. pneumoniae spesifik IgG ve IgA antikorlarını saptamak için astımlı hastalardan akut atak anında ve atak sonrası 4. ve 12. haftalarda, kontrol grubundan ise tek serum örneği alındı. Astımlı hastaların hepsine uygun akut atak tedavisine ek olarak klaritromisin 15 mg/kg/gün 10 gün süreyle verildi. C. pneumoniae spesifik IgG ve IgA seroprevalansı her iki grupta benzerdi (P>0.05). Astımlı grup tedavi sonrası 12 haftalık dönemde kendi içinde değerlendirildiğinde C. pneumoniae spesifik IgG antikor indeks değerinin giderek düşüş gösterdiği (PO.05) saptandı. Sonuçlarımız C. pneumoniae enfeksiyonunun akut astım atağım ortaya çıkarmada önemli bir etken olmadığını, bununla birlikte klaritromisin tedavisi ile antikor titrelerinin anlamlı derecede düştüğünü göstermiştir. Uygun astım tedavisine rağmen kronik astım semptomlarının devam etttiği astımlı çocuklarda klaritromisin tedavisinin gözönünde bulundurulması gerektiğini düşünüyoruz.Seroprevalance of Chlamydiae pneumoniae in children with acute asthma exacerbation Respiratory infections can precipitate the acute exacerbations in many asthmatic children. In several studies, it is demonstrated that viral infections may provoke asthma exacerbations. Although bacterial infections seems to be less important, especially Chlamydia pneumoniae has been recently reported as a possible cause of asthma exacerbations. In order to evaluate the role of C. pneumoniae infections in acute exacerbations of asthma in children and effects of clarithromycin therapy, 25 children with acute asthma exacerbation were enrolled in the study. Twenty-five sex and age matched children without any history of respiratory tract infection in last three months and atopy served as control group. Serum samples for the determination of C. pneumoniae spesific IgG and IgA antibody leves of C. pneumoniae were taken on admission with acute exacerbation and 4th and 12th weeks after exacerbation in asthmatic children. One serum sample was collected from controls. Appropriate acute exacerbation therapy and clarithromycin 15 mg/kg body weight/day for 10 days were given all asthmatic children. The prevalance of C. pneumoniae spesific IgG and IgA was similar in asthmatic children during acute exacerbation, at 4th and 12th weeks after exacerbation and in controls (P>0.05). When C. pneumoniae spesific antibody index values were evaluate in the asthmatic group at the period of 12 weeks after treatment, significantly decreases were detected in IgG levels (P<0.05). Our results suggest that C. pneumoniae infections is not an important cause of acute asthma exacerbations in children, hovewer the antibody index values of IgG were significantly decreases with clarithromycin therapy. We conclude that clarithromycin therapy should be taken on consideration in asthmatic children when chronic asthmatic symtoms continue in spite of appropriate asthma therapy.

Hepatit A Enfeksiyonu Olan Bir Çocuk Hastada Delta-Bilirubinemi ve İnatçı Kaşıntı

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