5 results match your criteria: "Department of Pathology and Laboratory Medicine University of Ottawa[Affiliation]"

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet

December 2018

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. However, the precise genetic etiology for this rare condition remains elusive.

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Infarction of the posterior cerebral artery circulation arising from entrapment of the basilar artery in a fracture of the clivus has been reported in the medical literature, predominantly in the radiology and emergency medicine journals. Review of the medical literature on the topic revealed 14 published cases of entrapment of the basilar and/or vertebral artery within a longitudinal fracture of the clivus. These were all reported between 1964 and 2016 and postmortem examination had been conducted on seven cases.

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On June 17, 2016, the Canadian government legalized medical assistance in dying (MAID) across the country by giving Royal Assent to Bill C-14. This Act made amendments to the Criminal Code and other Acts relating to MAID, allowing physicians and nurse practitioners to offer clinician-administered and self-administered MAID in conjunction with pharmacists being able to dispense the necessary medications. The eligibility criteria for MAID indicates that the individual 1) must be a recipient of publicly funded health services in Canada, 2) be at least 18 years of age, 3) be capable of health-related decision-making, and 4) has a grievous and irremediable medical condition.

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Rickets was a common metabolic disease of bone a century ago in Europe, North America, and East Asia (mainly due to vitamin D deficiency) but was largely eradicated in growing children by use of cod liver oil and the introduction of vitamin D fortification of milk in the 1930s in the United States. Vitamin D deficiency (VDD) remains the most common form of metabolic bone disease that is entirely preventable and treatable. Historically, rickets has appeared in sporadic epidemics and, despite the introduction of numerous preventive strategies, VDD has remained a global health problem amongst children.

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The engagement of CD28 or CTLA-4 with B7.1 provides the essential second costimulatory signal that regulates the development of immune responses, including T cell activation, differentiation, and induction of peripheral tolerance. The signaling molecules and the transcription factors involved in B7.

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