Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl

Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions and nail pitting. Investigators agree that JPsA is a relatively common chronic arthropathy of childhood that differs clinically, serologically, and genetically from both juvenile idiopathic arthritis and juvenile ankylosing spondylitis. Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease occasionally accompanied by sacroiliitis. This is characterized by recurrent self-limited attacks of fever and accompanying abdominal, chest and arthricular pain. We present a 14-year-old Turkish girl with JPsA and carrying FMF gene mutations. In this patient, JPsA was diagnosed according to her physical, laboratory and skin biopsy findings and a treatment with methotrexate and sulfasalazine was started. As an inadequate clinical and laboratory response was obtained after the first month of therapy, the patient was investigated for FMF, and was diagnosed by molecular analyses of related gene (E148Q heterozygous/V726A homozygous mutation) besides clinical findings. After 2 weeks of the colchicine treatment, symptoms of the patient regressed and acute phase reactants decreased. To our knowledge, this is the first case presenting with psoriatic arthritis and FMF gene mutations together and responds to colchicine, methotrexate and sulfasalazine dramatically in clinical and laboratory findings. This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene.     

ACQUIRED VON WILLEBRAND DISEASE IN A TURKISH BOY WITH GAUCHER DISEASE

Wilms’ tumors (WT) constitute approximately 6–14% of all childhood cancers and about 95% of all pediatric renal malignancies. While prognostic factors for this malignancy are relatively well-defined, few studies have specifically examined the role of Hispanic ethnicity in pediatric WT survival. The purpose of this study was to compare WT survival among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic cases using data from the Surveillance, Epidemiology, and End Results (SEER) program. WT cases (ICD-O-3 histological code 8960) under age 20 were isolated from a recent subset of the SEER dataset (1990–2009). Demographics and tumor characteristics were compared by race/ethnicity, and 5- and 10-year survival probabilities were calculated. Multivariable Cox proportional hazards regression was used to assess the effects of race/ethnicity on WT survival, adjusting for relevant covariates. Hispanic ethnicity was significantly associated with WT-specific mortality hazard, controlling for age, sex, diagnosis/treatment era, laterality, SEER stage, cancer-directed surgery, and radiation therapy (HR: 1.52, 95% CI: 1.02–2.25). The results of this study suggest that Hispanic pediatric WT cases may have a higher risk of WT-related death, compared to NHW cases. Additional research on racial/ethnic disparities in WT survival is warranted.     

Adhesion of 10-MDP containing resin cements to dentin with and without the etch-and-rinse technique

PURPOSE

This study evaluated the adhesion of 10-MDP containing self-etch and self-adhesive resin cements to dentin with and without the use of etch-and-rinse technique.

MATERIALS AND METHODS

Human third molars (N=180) were randomly divided into 6 groups (n=30 per group). Conventional (Panavia F2.0, Kuraray-PAN) and self-adhesive resin cements (Clearfil SA, Kuraray-CSA) were bonded to dentin surfaces either after application of 3-step etch-and-rinse (35% H₃PO₄ + ED Primer) or two-step self-etch adhesive resin (Clearfil SE Bond). Specimens were subjected to shear bond strength test using the universal testing machine (0.5 mm/min). The failure types were analyzed using a stereomicroscope and quality of hybrid layer was observed under a scanning electron microscope. The data (MPa) were analyzed using two-way ANOVA and Tukey''s tests (α=.05).

RESULTS

Overall, PAN adhesive cement showed significantly higher mean bond strength (12.5 ± 2.3 - 14.1 ± 2.4 MPa) than CSA cement (9.3 ± 1.4 - 13.9 ± 1.9 MPa) (P<.001). Adhesive failures were more frequent in CSA cement groups when used in conjunction with two-step self-adhesive (68%) or no adhesive at all (66%). Hybrid layer quality was inferior in CSA compared to PAN cement in all conditions.

CONCLUSION

In clinical situations where bonding to dentin substrate is crucial, both conventional and self-adhesive resin cements based on 10-MDP can benefit from etch-and-rinse technique to achieve better quality of adhesion in the early clinical period.     

Evaluation of indirect microparticle activity and parameters of thrombin generation test in healthy infants

Introduction

Circulating microparticles support thrombin generation. The aim of this study is to determine the indirect microparticle activity and the parameters of thrombin generation in healthy infants.

Materials and methods

A total of 85 infants who were brought to follow-up visits were taken into the study. Blood samples were collected. Thrombin generation parameters and indirect microparticle activity were measured.

Results

The infants were divided into four groups according to the time of follow-up visits. Mean ages were 1.18 ± 0.19 months in Group 1, 6.15 ± 0.16 months in Group 2, 12.38 ± 0.46 months in Group 3 and 24.53 ± 0.39 months in Group 4, respectively. There was no statistical difference among the age-based groups with respect to the indirect microparticle activity. The lag time and the TTP levels in Group 1 were lower than that found in Group 2. The ETP and peak levels were higher in Group 1 than that of Group 2. The ETP and peak levels in Group 2 were found lower than those found in older children, but the TTP level was found relatively higher. Statistically correlations were found between indirect microparticle activity and all parameters of thrombin generation.

Conclusions

The absence of a difference in terms of age-based microparticle levels may suggest that the features of microparticles in healthy children of this age group are similar. Age-dependent changes in thrombin generation parameters may suggest a regulation mechanism for the thrombin generation system over the first years of life. The results may provide mean values for indirect microparticle activity and thrombin generation in this healthy group.     

Evaluation of thiol-disulphide homeostasis in radiation workers

Purpose: To evaluate thiol-disulphide homeostasis – a novel, easily calculated, readily available, and relatively cheap oxidative stress marker – in radiation workers and compare the results with healthy controls.

Materials and methods: A total of 108 participants were enrolled in the study including 63 hospital workers occupationally exposed to ionizing radiation in the units of interventional radiology, interventional cardiology and nuclear medicine. A control group consisted of 45 individuals staff in the same hospital. Serum thiol-disulphide homeostasis measurement was investigated via the spectrophotometric method newly described by Erel and Ne?elio?lu.

Results: The mean serum native thiol levels of radiation workers (528.96?±?86.42?μmol/l) was significantly lower than control subjects (561.05?±?104.83?μmol/l) (p?=?.045). The mean serum total thiol levels of radiation workers (547.70?±?91.50?μmol/l) was lower than control subjects (580.36?±?112.24?μmol/l). Nevertheless, there was no significant difference between total thiol of exposed workers and controls.

Conclusions: The results show that long-term low dose ionizing radiation may lead to oxidative stress and have side-effects in antioxidant thiol groups. We may suggest supporting radiation workers by safe antioxidant nutritional formulations and following up via both physical dosimetry and biodosimetric methods.     

Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach

Purpose: To describe the clinical features of patients with Duane retraction syndrome (DRS) and evaluate the outcomes of surgical approaches based on the characteristics of each patient.

Methods: The records of 38 Caucasian subjects with DRS were retrospectively reviewed. The patients were classified as type I, II, or III based on the Huber Classification. Ten patients underwent unilateral medial rectus (MR) recession due to abnormal head posture (AHP) and/or esotropia. Four patients underwent Y-splitting and recession of the lateral rectus (LR) with MR recession due to AHP and/or esotropia, upshoot, and globe retraction.

Results: There was a preponderance of unilaterality, female gender, left eye, type I, orthotropia, upshoot, and low refractive error. All patients demonstrated globe retraction and fissure narrowing. AHP was only present in unilateral cases. Nine patients had amblyopia. More than half of the patients over 5 years of age had decreased stereopsis. MR recession decreased AHP to less than 8° in all patients. Y-splitting and recession of the LR eliminated upshoot in all four patients. One patient who underwent an 8-mm MR recession demonstrated ?2 adduction limitation.

Conclusions: The DRS patients in our study demonstrated features that are consistent with previous reports in the literature. This study emphasizes the need to consider disease classification in the surgical management of DRS patients.     

Provision of clinical pharmacy services during the COVID-19 pandemic: Experiences of pharmacists from 16 European countries

BackgroundThe pharmacy profession has an important role in the frontline healthcare response to COVID-19 across all settings.ObjectiveThis study sought to explore the views and experiences of clinical pharmacists in relation to the provision of clinical pharmacy services during COVID-19.MethodsSemi-structured qualitative interviews were conducted with pharmacists working in clinical roles in healthcare settings across Europe. Participants were recruited through professional organisations of clinical and hospitals pharmacists combined with a snowballing technique. The Pharmacy Emergency Preparedness and Response Framework and Disaster Preparedness Framework for pharmacy services were used to generate data which were analysed using the thematic framework method.ResultsTwenty-two participants from 16 European countries described a range of measures to protect patients, public and healthcare staff against virus transmission including developing and disseminating educational materials. Most described their involvement in aspects of evidence provision such as facilitating clinical trials, gathering and appraising evidence and disseminating clinical information. Many hospital-based pharmacists were reassigned to new roles such as intensive care. Routine clinical services were extensively interrupted and remote forms of communication were used. Most were motivated by a strong sense of professionalism to continue delivering services. A number of facilitators and barriers to prevention, preparedness and response actions were identified which related to uptake of new roles, recognition of pharmacists roles in the healthcare team, information gathering, communication with patients and healthcare professionals, and provision of routine clinical services.ConclusionsParticipants in this multinational qualitative study described a range of service adaptations and adoption of novel roles to prevent and mitigate the public health impact of the pandemic. The study findings may help to inform governments, public health agencies and healthcare systems in harnessing ongoing service provision and adapt to any future interruptions.     

Pharmacists’ involvement in COVID-19 vaccination across Europe: a situational analysis of current practice and policy

International Journal of Clinical Pharmacy - One year since the emergence of the COVID-19 pandemic, rapid response measures have been implemented internationally to mitigate the spread of the...     

Nonarteritic anterior ischemic optic neuropathy as the presenting manifestation of primary antiphospholipid syndrome

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis or pregnancy morbidity. Ocular involvement in APS includes a broad spectrum of manifestations involving anterior and posterior segment or the presence of neuroophthalmologic features. Nonarteritic anterior ischemic optic neuropathy (NAION) is a very rare finding, and in this report a case having NAION as the prevailing sign of APS is presented. A middle-aged women who presented with visual disturbances in her left eye (LE) and turned out to have the diagnosis of primary APS with the help of rheumatological investigations is discussed. She was treated with oral steroids for NAION in her LE. With systemic and rheumatological work-up, primary APS was diagnosed, and hydroxychloroquine, coumadin, and aspirin were started, after which she remained stable under control. Due to the important diagnostic and therapeutic implications of APS, it should be considered in the differential diagnosis of NAION, particularly when the etiology is uncertain.