Establishment of a formal program for retinoblastoma: Feasibility of clinical coordination across borders and impact on outcome

Retinoblastoma is an ocular tumor that occurs in young children, in either heritable or sporadic manner. The relative rarity of retinoblastoma, and the need for expensive equipment, anesthesia, and pediatric ophthalmologic expertise, are barriers for effective treatment in developing countries. Also, with an average age‐adjusted incidence of two to five cases per million children, patient number limits development of local expertise in countries with small populations. Lebanon is a small country with a population of approximately 4.5 million. In 2012, a comprehensive retinoblastoma program was formalized at the Children's Cancer Institute (CCI) at the American University of Beirut Medical Center, and resources were allocated for efficient interdisciplinary coordination to attract patients from neighboring countries such as Syria and Iraq, where such specialized therapy is also lacking. Through this program, care was coordinated across hospitals and borders such that patients would receive scheduled chemotherapy at their institution, and monthly retinal examinations and focal laser therapy at the CCI in Lebanon. Our results show the feasibility of successful collaboration across borders, with excellent patient and physician adherence to treatment plans. This was accompanied by an increase in patient referrals, which enables continued expertise development. However, the majority of patients presented with advanced intraocular disease, necessitating enucleation in 90% of eyes in unilateral cases, and more than 50% of eyes in bilateral cases. Future efforts need to focus on expanding the program that reaches to additional hospitals in both countries, and promoting early diagnosis, for further improvement of globe salvage rates.     

Movement disorders in mitochondrial disease

Journal of Neurology - Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement...     

Familial and genetic aspects of spondyloarthropathy

Predisposition to SpA is largely determined by genetic factors including HLA-B27 and other as yet unknown genes that might be tracked by a positional cloning approach. Analysis performed on a large cohort of SpA multiplex families revealed that the different articular and extra-articular inflammatory manifestations comprising the SpA spectrum were linked together, implying that they were determined by a shared set of factors, including HLA-B27. The variety of phenotypes appeared to be related to ubiquitous and secondary factors. Hence, SpA appeared to be more homogenous than previously thought and should be regarded as a unique disease. This conclusion also implies that genetic studies should be performed on the whole group. Such an approach allowed identification of HLA-DR4 as a gene contributing to SpA predisposition independently of linkage disequilibrium with HLA-B27. A significant role for CARD15/NOD2 gene in predisposition to SpA was ruled out, in agreement with the hypothesis that the inflammatory bowel disease in SpA is determined by factors different than those responsible for isolated Crohn's disease.     

Assessment of peripheral enthesitis in the spondylarthropathies by ultrasonography combined with power Doppler: a cross-sectional study

OBJECTIVE: To assess the prevalence and severity of peripheral enthesitis among the different subtypes of spondylarthropathy (SpA) by using ultrasonography (US) in B mode with power Doppler. METHODS: One hundred sixty-four consecutive patients with SpA (according to the criteria of the European Spondylarthropathy Study Group) and 64 control patients (34 with mechanical low back pain [MBP] and 30 with rheumatoid arthritis [RA]) underwent US examination of major entheses of their limbs. Particular attention was given to the detection of vascularization at the following sites: cortical bone insertion of entheses, junction between tendon and entheses, body of tendon, and bursa. RESULTS: Abnormal US findings consistent with at least one enthesitis were observed in 161 of 164 SpA patients (98%), affecting 1,131 of 2,952 entheses examined (38%). In contrast, only 132 of 1,152 entheses (11%) were found to be abnormal in 33 of 64 control patients (52%). US enthesitis was most commonly distributed in the distal portion of the lower limbs, irrespective of SpA subtype and of skeletal distribution of clinical symptoms. None of the abnormal entheses in control patients showed vascularization, compared with 916 of 1,131 abnormal entheses in SpA patients (81%), where it was always detected at the cortical bone insertion and sometimes also in the bursa. In SpA patients, the US pattern depended on the clinical presentation, with a higher prevalence of the most severe stages in those with peripheral forms. CONCLUSION: US in B mode combined with power Doppler allowed the detection of peripheral enthesitis in a majority of SpA patients, but not in MBP or RA patients. The presence of entheseal involvement was independent of SpA subtype, but its degree of severity appeared to be greater in peripheral forms. US could be very useful for both the diagnosis and the assessment of SpA activity.     

Management of anemia of chronic disease in patients with the human immunodeficiency virus

Anemia is the most frequently encountered hematologic complication in human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome. The prevalence estimates vary widely with the severity of HIV disease. Data suggest that treatment with highly active antiretroviral therapy may have a positive impact on reducing the prevalence of anemia of chronic disease in patients infected with HIV. Anemia consistently has been shown to be a predictor of decreased survival, and treatment plays an important role in improving patients' survival and quality of life (e.g., fatigue and dementia). Addressing potential underlying reversible causes and treating the chronic anemia are important strategies in the management of anemia. Erythropoietin therapy should be considered a first-line treatment, and blood transfusions should be limited to situations requiring immediate correction of hemoglobin levels.