Approach to the Patient with Achondroplasia - New Considerations for Diagnosis, Management and Treatment.

Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.

Analysis of 20 Years of Ethics Consultations at a U.S. Children's Hospital.

AbstractEmpirical studies of pediatric clinical ethics cases are scant in the biomedical and bioethics literature. In this study, more than 100 detailed records of clinical ethics consultations spanning from 2000 to 2020 at a moderately sized U.S.

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent inhibitor of extracellular matrix mineralization. Biallelic loss-of-function variants in the MGP gene cause Keutel syndrome, an autosomal recessive disorder characterized by widespread calcification of various cartilaginous tissues and skeletal and vascular anomalies.

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Introduction: Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. Sharing early prescribing experiences across different regions could provide a framework for developing practical guidance for the real-world use of vosoritide.

Methods: Two meetings were held to gather insight and early experience from experts in Europe, the Middle East, and the USA.

Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.

Osteogenesis imperfecta (OI) is a rare genetic heterogeneous disorder that causes increased bone fragility and recurrent fractures. For infants with OI and diffuse fractures, pain management, which is nuanced and specific for this population, is of the utmost importance to their neonatal care. Through experience at our center, we have developed a standard approach that has been successful in optimizing survival for these infants during this tenuous period.

An Informed Approach to Vaccine Hesitancy and Uptake in Children.

The tremendous success of vaccination programs worldwide over the past two centuries has produced a paradoxical effect whereby a lack of exposure to the devastating consequences of vaccine-preventable diseases has created an environment in which fear of the side effects of vaccines can overshadow concerns about the impact of the diseases they are meant to prevent. As vaccine hesitancy grew over the past twenty years, states passed legislation, such as non-medical exemptions from vaccination, that have cultivated pockets of poor vaccine uptake allowing for the return of vaccine-preventable diseases such as measles and pertussis. The COVID-19 pandemic has further intensified mistrust of vaccines, impacting both the reasons for vaccine hesitancy and the attributes of vaccine hesitant parents.

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Collagen X marker (CXM) is a degradation fragment of collagen type X. It is a real-time biomarker of height velocity with established norms. Plasma C-type natriuretic peptide (CNP) and NTproCNP levels have also been found to correlate with growth velocity in the general population and are elevated in individuals with achondroplasia compared with age- and sex-matched controls.

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII.

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor.

Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to sustain him, and his parents' perception of his quality of life. We also summarize the clinical course of published long-term survivors with TD.

End-of-life medical decision-making for children in custody: A collaborative, multi-stakeholder practical approach.

Background: Parents have a constitutionally-protected, fundamental right to make decisions concerning the health and well-being of their children, afforded by the Due Process Clause of the Fourteenth Amendment. However, parental rights are not absolute, and may be curtailed after a finding of parental "unfitness" including perpetration of egregious child abuse/neglect. Court intervention may be necessary to assert "parens patriae" authority to protect a child's well-being.

Motivations of patients with pulmonary arterial hypertension to participate in randomized clinical trials.

Background: There is substantial need to rigorously evaluate existing and new therapies for pulmonary arterial hypertension (PAH) and other severe and relatively rare conditions affecting younger patients. However, the ability to conduct meaningful randomized clinical trials (RCTs) in such contexts often is limited by difficulties obtaining adequate patient enrollment.

Purpose: To understand the motivations of patients with PAH for participating in RCTs so as to facilitate enrollment in future trials among patients with similar diseases.