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Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
Drug-resistant tuberculosis (DR-TB) is a major public health threat in Hunan Province, with an increasing clinical burden in recent years. This study aimed to identify socio-demographic and clinical factors associated with DR-TB in Hunan province, China.
Glycemia risk index (GRI) is a novel composite metric assessing overall glycemic risk, accounting for both hypoglycemia and hyperglycemia and weighted toward extremes. Data assessing GRI as an outcome measure in closed-loop studies and its relation with conventional key continuous glucose monitoring (CGM) metrics are limited.
This study aimed to investigate the influence factors of financial toxicity experienced by colorectal cancer patients after surgery. The results will provide deep insights for developing effective intervention strategies to address this common issue of colorectal cancer care.
To assess the level of supportive care needs of caregivers of colorectal cancer patients and explore the related key influencing factors. Totaling 283 caregivers of patients with colorectal cancer were investigated in this study.
Consistent with the principles of differential privacy protection, the Australian Bureau of Statistics artificially perturbs all count data from the Australian Census prior to its release to researchers through the TableBuilder platform. This perturbation involves the addition of random noise to every non-zero cell count followed by the suppression of small values to zero.
Many trans young people seek mental health support and gender-affirming medical interventions including puberty suppression, gender-affirming hormones and/or surgeries. Trans young people and their parents face multiple barriers in accessing gender-affirming care and mental health support, however little is known about the parent perspective on accessing services for their trans child.
Whānau Pakari is a healthy lifestyle assessment and intervention programme for children and adolescents with obesity in Taranaki (Aotearoa/New Zealand), which, in this region, replaced the nationally funded Green Prescription Active Families (GRxAF) programme.
The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.
Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.