Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Solute carrier family 22 member 5 (SLC22A5) encodes a sodium‐dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta‐oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature‐reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation.     

Advanced Age,Obesity and Continuous Femoral Nerve Blockade are Independent Risk Factors for Inpatient Falls After Primary Total Knee Arthroplasty

We asked whether femoral nerve blockade (FNB) was an independent risk factor for inpatient post-operative falls after total knee arthroplasty (TKA). Data on 2197 primary TKAs were collected from our institution between 2003 and 2010. Patient demographics, type and duration of blocks were considered predictors of falls in a logistic regression model. Among 60 (2.7%) falls, the odds ratio was 1.04 (1.0–1.07; p = 0.008) for each 1 year of increased age above the mean (66 years), 2.4 (1.3–4.5; p = 0.005) for BMI > 30 kg/m² and 4.4 (1.04–18.2; p = 0.04) for continuous FNB. Single-shot FNB did not increase risk. No fall resulted in operative morbidity. The use of continuous FNB should be cautioned, especially in patients with other risk factors such as obesity and advanced age.     

Necrotising Infection of the Orofacial Tissues in Neonates (Noma Neonatorum): Case report

Noma neonatorum should be differentiated from noma, in that it is typically a disease of seriously ill premature infants whose birth weight was low, and is caused by Pseudomonas aerugenosa septicaemia. We know of only two case reports of noma neonatorum involving newborn infants born at full term, so we report here another case of noma neonatorum in a neonate born at full term. In addition we describe the differences between noma neonatorum and noma (cancrum oris), a clinically related entity.