Linear and Whorled Nevoid Hypermelanosis: Report of a Case Associated with Cerebral Palsy

Abstract: A child had cerebral palsy and linear and whorled nevoid hypermelanosis on the right side of his body. He had spasticity and wasting in both lower limbs, with electroencephalographic changes and brain abnormalities on computerized tomographic scan. Chromosomal study of peripheral blood leukocytes found a normal male karyotype. The pathogenesis of this condition is still unclear.     

Targeting the Splicing of mRNA in Autoimmune Diseases: BAFF Inhibition in Sjögren's Syndrome as a Proof of Concept

BAFF (B-cell–activating factor of the tumor necrosis factor family), a pivotal cytokine for B-cell activation, is overexpressed by salivary gland (SG) epithelial cells in primary Sjogren''s syndrome (pSS). ΔBAFF, a physiological inhibitor of BAFF, is a minor alternative splice variant of BAFF. A U7 RNA was reengineered to deliver antisense sequences targeting BAFF splice regions. A major decrease of BAFF messenger RNA (mRNA) and protein secretion, concomitantly with the increase of ΔBAFF mRNA, was observed in vitro. In vivo, SG retrograd instillation of nonobese diabetic mice by the modified U7 cloned into an adeno-associated virus vector significantly decreased BAFF protein expression and lymphocytic infiltrates and improved salivary flow. This study offers a rationale for localized therapeutic BAFF inhibition in pSS and represents a proof of concept of the interest of exon skipping in autoimmune diseases.     

Accessibility to biologics and its impact on disease activity and quality of life in patients with rheumatoid arthritis in Kuwait

Clinical Rheumatology - Biologics are indicated in rheumatoid arthritis (RA) in case of persistent high disease activity despite conventional disease-modifying anti-rheumatic drugs (cDMARDs) or...     

Atrial function in the Fontan circulation: comparison with invasively assessed systemic ventricular filling pressure

The International Journal of Cardiovascular Imaging - Abnormal atrial mechanics in biventricular circulations have been associated with elevated left heart filling pressures. Similar associations...     

Case fatality of bleeding and recurrent venous thromboembolism during,initial therapy with direct oral anticoagulants: A systematic review

Introduction

The frequency and case fatality of venous thromboembolism (VTE) and major bleeding during the initial 3 months of therapy in those treated for symptomatic VTE with either direct oral anticoagulants (DOACs) or vitamin K antagonists (VKA) are important clinically relevant outcomes. We sought to measure it during the initial months of anticoagulation for symptomatic VTE.

Material and Methods

We searched MEDLINE, EMBASE, and CENTRAL to identify studies that enrolled patients with acute symptomatic VTE treated with DOACs or VKA and reported data on bleeding, VTE recurrence and death. Studies were evaluated according to a priori inclusion criteria and critically appraised using established internal validity criteria. Single-proportion random-effects models were used to pool estimates.

Results

Of the 2453 citations retrieved, 5 RCTs that enrolled 24,507 patients were included. The rate of major bleeding was 1.8 (95% CI: 1.3-2.5) and 3.1 (95% CI: 2.4-3.9) per 100 patient-years in DOAC and VKA arms, respectively. The rate of VTE recurrence was 3.7 (95% CI: 2.7-4.7) and 4.1 (95% CI: 3.0-5.4) per 100 patient-years of DOAC and VKA, respectively. The case fatality rate of bleeding was significantly higher in the VKA arms 10.4% (95% CI: 6.6-15.4) compared to DOACs 6.1% (95% CI: 2.7-11.7; p value for difference = 0.029) with no statistical difference between the case fatalities for recurrent VTE. The rate of death from either definite major bleeding or definite recurrent VTE was 0.27 (95% CI: 0.16-0.40) and 0.46 (95% CI: 0.32-0.63) per 100 patient-years for DOACs and VKAs respectively, resulting in a number needed to treat of 875 for DOACs to prevent one death.

Conclusion

DOACs are attractive alternatives to VKAs for initial treatment of symptomatic VTE, with lower frequency and case fatality for major bleeding. However, the incremental safety benefit of DOACs over VKAs is small, with large numbers needed to treat.     

A qualitative study exploring patients’ experiences regarding insulin pump use

Background

Diabetes is a threat to peoples’ lives around the world, particularly in the Middle East. Medicine misuse and poor glycaemic control are prevalent among patients with type 2 diabetes, especially insulin-dependent patients (Alsairafi et al., 2016). With advances in medical technology, insulin pumps became a treatment option for patients with type 1 diabetes and those with insulin-dependent type 2 diabetes. However, use of these devices is still lacking in Kuwait, particularly in patients with type 2 diabetes. Information on how patients manage these devices and their efficacy and safety from the perspectives of patients is also lacking (Alsaleh et al., 2016).

Population genetics of 30 insertion/deletion polymorphisms in the Kuwaiti population

International Journal of Legal Medicine - This study evaluates the forensic utility of the 30 insertion and deletion (indel) markers contained in the Qiagen Investigator® DIPplex kit in the...