Le syndrome de Smith-Magenis

Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophtalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.     

Reserve nitrous oxide cylinders on anaesthetic machines. A survey of attitudes and equipment at a large DGH

The presence of reserve nitrous oxide cylinders on anaesthetic machines is not necessary and potentially hazardous, wasteful and polluting. Although reserve nitrous oxide cylinders are routinely present on the anaesthetic machines in many hospitals in the UK, it is our concern that they are not checked or maintained properly. We examined a sample of cylinders and surveyed the practice amongst the anaesthetic staff in our Department with an anonymous questionnaire. This confirmed that: (1) the equipment is not properly maintained, 68% of cylinders sampled having passed a 3-year expiry date; (2) checks are of little practical use, are not routinely performed by anaesthetists, and only 46% of respondents routinely check the nitrous oxide cylinders. In conclusion, the nitrous oxide cylinders are not properly checked or maintained and may represent a safety hazard.     

Risk Factors for SARS-CoV-2 Infection and Illness in Cats and Dogs

We tested swab specimens from pets in households in Ontario, Canada, with human COVID-19 cases by quantitative PCR for SARS-CoV-2 and surveyed pet owners for risk factors associated with infection and seropositivity. We tested serum samples for spike protein IgG and IgM in household pets and also in animals from shelters and low-cost neuter clinics. Among household pets, 2% (1/49) of swab specimens from dogs and 7.7% (5/65) from cats were PCR positive, but 41% of dog serum samples and 52% of cat serum samples were positive for SARS-CoV-2 IgG or IgM. The likelihood of SARS-CoV-2 seropositivity in pet samples was higher for cats but not dogs that slept on owners’ beds and for dogs and cats that contracted a new illness. Seropositivity in neuter-clinic samples was 16% (35/221); in shelter samples, 9.3% (7/75). Our findings indicate a high likelihood for pets in households of humans with COVID-19 to seroconvert and become ill.     

Group A streptococcal supraglottitis

We describe four children with severe supraglottic infections caused by group A beta-hemolytic streptococci. In each case the clinical presentation suggested Hemophilus influenzae epiglottitis. In only one patient was there significant involvement of the epiglottis, whereas all had striking inflammation of the aryepiglottic folds. Group A beta-hemolytic streptococcus was isolated in blood cultures in two patients and from the supraglottic area and trachea in two others. Fever persisted for 6 to 22 days, and tracheal intubation was necessary for 2 to 16 days, despite appropriate antibiotic therapy. The evolution of streptococcal supraglottitis may be protracted, and it must be managed accordingly.     

Response to Dr. Nicholas Foray’s commentary on the paper by Rousseau et al. entitled “Efficacy of intracerebral delivery of cisplatin in combination with photon irradiation for treatment of brain tumors”

Journal of Neuro-Oncology -