Werner syndrome in a Lebanese family.

Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid disorder caused by biallelic pathogenic variants in the WRN, which encodes a multifunctional nuclear protein that belongs to the RecQ family of DNA helicases. Despite extensive research on WS in the last years, the population-specific mutational spectrum still needs to be elucidated. Moreover, there is an evident lack of detailed clinical descriptions accompanied with photographs of affected individuals. Here, we report a consanguineous Lebanese family in whom we identified a pathogenic homozygous nonsense variant c.1111G>T, p.Glu371* in the WRN. The index individual, at the age of 54 years, was suspected to have WS due to a history of early-onset cataracts, premature hair loss and graying, chronic nonhealing leg ulcers, Achilles' tendon calcifications, type 2 diabetes mellitus, dyslipidemia, hypothyroidism, and premature coronary artery disease. His four sisters, three of which deceased in the fifth decade, had clinical signs suggestive of WS. Moreover, his daughter, aged 23 years, had short stature, hair loss and flat feet. Taken together, we report a detailed clinical course of disease in several affected members of a consanguineous family, which is additionally documented by photographs.

The Impact of EGDT on Sepsis Mortality in a Single Tertiary Care Center in Lebanon.

BACKGROUND: EGDT (Early Goal Directed Therapy) or some portion of EGDT has been shown to decrease mortality secondary to sepsis and septic shock. OBJECTIVE: Our study aims to assess the effect of adopting this approach in the emergency department on in-hospital mortality secondary to sepsis/septic shock in Lebanon. HYPOTHESIS: Implementation of the EGDT protocol of sepsis in ED will decrease in-hospital mortality. METHODS: Our retrospective study included 290 adult patients presenting to the ED of a tertiary center in Lebanon with severe sepsis and/or septic shock. 145 patients between years 2013 and 2014 who received protocol care were compared to 145 patients treated by standard care between 2010 and 2012. Data from the EHR were retrieved about patients' demographics, medical comorbidities, and periresuscitation parameters. A multivariate analysis using logistic regression for the outcome in-hospital mortality after adjusting for protocol use and other confounders was done and AOR was obtained for the protocol use. 28-day mortality, ED, and hospital length of stay were compared between the two groups. RESULTS: The most common infection site in the protocol arm was the lower respiratory tract (42.1%), and controls suffered more from UTIs (33.8%). Patients on protocol care had lower in-hospital mortality than that receiving usual care, 31.7% versus 47.6% (p=0.006) with an AOR of 0.429 (p =0.018). Protocol patients received more fluids at 6 and 24 hours (3.8 ± 1.7 L and 6.1 ± 2.1 L) compared to the control group (2.7 ± 2.0 L and 4.9 ± 2.8 L p=<0.001). Time to and duration of vasopressor use, choice of appropriate antibiotics, and length of ED stay were not significantly different between the two groups. CONCLUSION: EGDT- (Early Goal Directed Therapy-) based sepsis protocol implementation in EDs decreases in-hospital mortality in developing countries. Adopting this approach in facilities with limited resources, ICU capabilities, and prehospital systems may have a pronounced benefit.