BACKGROUND Haplotyping reveals chromosome blocks inherited from parents to in vitro fertilized (IVF) embryos in preimplantation genetic diagnosis (PGD), enabling the observation of the transmission of disease alleles between generations. However, the methods of haplotyping that are suitable for single cells are limited because a whole genome…[Read more]

BACKGROUND Haplotyping reveals chromosome blocks inherited from parents to in vitro fertilized (IVF) embryos in preimplantation genetic diagnosis (PGD), enabling the observation of the transmission of disease alleles between generations. However, the methods of haplotyping that are suitable for single cells are limited because a whole genome…[Read more]

Improved management of interrupted aortic arch has increased long-term survival rates. Longer life expectancies in neonates and children surgically treated for interrupted aortic arch may necessitate complex reinterventions when sequelae develop in adulthood. We report the case of a 24-year-old man who had undergone initial repair of interrupted…[Read more]

Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic encephalopathy and BLM haploinsufficiency due to a deletion of 15q25.3q26.2 region, who suffered from secondary hemophagocytic…[Read more]

Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic encephalopathy and BLM haploinsufficiency due to a deletion of 15q25.3q26.2 region, who suffered from secondary hemophagocytic…[Read more]

Eye health has garnered increased attention since the COVID-19 pandemic. This Round Table explored the impact mask wearing, delays in eye examinations, and increased screen time have on vision and ultimately the worker.

Leading experts in the areas of occupational health, risk management, eye health, and communication were identified and…[Read more]

BACKGROUND Schistosomiasis is a neglected tropical disease that infects over 200 million people worldwide. Control measures can benefit from improved surveillance methods in freshwaters, with environmental DNA (eDNA) surveys having the potential to offer effective and rapid detection of schistosomes. However, sampling eDNA directly from natural…[Read more]

Healthcare programs specifically designed for Aboriginal children and their families can improve their experience of care in hospital. However, improvements in cultural awareness for other hospital staff is still needed. Implications for public health Dedicated Aboriginal programs in mainstream services can successfully improve cultural care to…[Read more]

Objectives Non-medical use of prescription drugs (NMUPD) has become a threat to public health. In the United States, NMUPD is especially common in young adults (aged 18-25). Self-esteem is a robust psychosocial factor of substance use. The substance use literature also documents that self-esteem is associated with alcohol use through other…[Read more]