Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean mass and increased fat mass in childhood followed by severe hyperphagia and consequent obesity. Scoliosis and other orthopaedic manifestations of hypotonia are common in children with Prader-Willi syndrome and cause significant morbidity. The relationships among hypotonia, reduced muscle mass and scoliosis have been difficult to establish. Inactivating mutations in one Prader-Willi syndrome candidate gene, MAGEL2, cause a Prader-Willi-like syndrome called Schaaf-Yang syndrome, highlighting the importance of loss of MAGEL2 in Prader-Willi syndrome phenotypes. Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome. We now demonstrate that Magel2 is expressed in the developing musculoskeletal system, and that loss of Magel2 causes muscle-related phenotypes in mice consistent with atrophy caused by altered autophagy. Magel2-null mice serve as a preclinical model for therapies targeting muscle structure and function in children lacking MAGEL2 diagnosed with Prader-Willi or Schaaf-Yang syndrome.
Background
The primary vectors of the agent of Lyme disease in Canada are
Ixodes scapularis
and
Ixodes pacificus
ticks. Surveillance for ticks and the pathogens they can transmit can inform local tick-borne disease risk and guide public health interventions. The objective of this article is to characterize passive and active surveillance of the main Lyme disease tick vectors in Canada in 2019 and the tick-borne pathogens they carry.
Methods
Passive surveillance data were compiled from the National Microbiology Laboratory Branch and provincial public health data sources. Active surveillance was conducted in selected sentinel sites in all provinces. Descriptive analysis of ticks submitted and infection prevalence of tick-borne pathogens are presented. Seasonal and spatial trends are also described.
Results
In passive surveillance, specimens of
I. scapularis
(n=9,858) were submitted from all provinces except British Columbia and
I. pacificus
(n=691) were submitted in British Columbia and Alberta. No ticks were submitted from the territories. The seasonal distribution pattern was bimodal for
I. scapularis
adults, but unimodal for
I. pacificus
adults.
Borrelia burgdorferi
was the most prevalent pathogen in
I. scapularis
(18.8%) and
I. pacificus
(0.3%). In active surveillance,
B. burgdorferi
was identified in 26.2% of
I. scapularis
;
Anaplasma phagocytophilum
in 3.4% of
I. scapularis
, and
Borrelia miyamotoi
and Powassan virus in 0.5% or fewer of
I. scapularis
. These same tick-borne pathogens were not found in the small number of
I. pacificus
tested.
Conclusion
This surveillance article provides a snapshot of the main Lyme disease vectors in Canada and their associated pathogens, which can be used to monitor emerging risk areas for exposure to tick-borne pathogens.
Between November 2014 and May 2018, 118 laboratory-confirmed cases of high-level azithromycin resistant Neisseria gonorrhoeae were identified in England. Cases emerged among heterosexuals in Leeds but spread across England and into sexual networks of men who have sex with men as the outbreak progressed. The few epidemiological links identified indicate substantial under-diagnosis of cases and this, along with the upturn in cases in 2017, highlights the difficulties in controlling the outbreak.
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