This article ties to SDG 3. This resource, created together by Osmosis and the National Organization for Rare Diseases (NORD), aims to increase the knowledge and awareness about the rare disease Achondroplasia, the most commonly occurring form of skeletal dysplasia that occurs in approximately 1 in 20,000-30,000 live births.
Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons.
In 2021, RELX continued to build on our strong corporate responsibility (CR) performance during the year, further improving on our key internal metrics and extending the scope of our unique contributions. This article is linked to SDGs 1,3,10,11,12,13 and 16, in line with RELX's areas of expertise.
Elsevier Health is launching an ambitious initiative called “The Year of the Zebra” to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the general public about rare disorders.
This article ties to SDG 3. This scoping review looks at the role of place in refugee mental health.
Background: In patients with cystic fibrosis (CF), thoracic morphology and its role in respiratory function is conditioned by anthropometric factors, as well as by pathological changes. While the lungs are continuously monitored, examinations of potential thoracic cage adaptations to the disease are rare. Hence, the aim of this study was to investigate thoracic configuration, and its correlation to spirometry measures over time. Methods: In total, 344 high-resolution computed tomography (HRCT) examinations from 90 patients were assessed and analysed. Those results were subsequently related to spirometry measurements performed within the same period. Results: The cohort displayed no homogenous change in thoracic configuration over time, and correlation between thoracic area and spirometry variables could not be supported statistically. Conclusions: Although the current study included a larger cohort of patients with CF compared to previous studies on thoracic morphology, no patient group-specific changes in thoracic configuration were revealed. Furthermore, no correlations between structural findings and functional respiratory measurements were found.
This article ties to SDG 3. Analyzing relations among neuronal, endocrine, immune, and biochemical signatures of trauma and internalizing and externalizing behaviors, including the role of personality traits in shaping these conducts, this review highlights that the marked effects of traumatic experience on the brain/body involve changes at nearly every level of analysis, from brain structure, function and connectivity to endocrine and immune systems, from gene expression (including in the gut) to the development of personality.
This Article supports SDGs 3 and 5, focusing on assessing cardiovascular mortality risk in women with hypertensive disorders of pregnancy, compared with normal blood pressure during pregnancy.
This Personal View supports SDGs 3 and 16 by presenting a case study using Indigenist health humanities to offer a way to understand planetary health. The authors indicate that embedding Indigenous knowledge and voices into planetary health education is important as part of decolonising learning in health professional education.
TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or stabilizes disease across key outcomes including survival, ambulation, and requirement for mechanical ventilation. However, little is known about the effects of nucleoside therapy treatment of TK2d from the patient's perspective. This study sought to address this knowledge gap.
