This gene codes for cathepsin K, a lysosomal cysteine protease that is highly expressed in osteoclasts and plays a significant role in bone remodelling by degenerating the bone matrix proteins such as type I collagen, osteopontin, and osteonectin. Defective function of cathepsin K therefore results in failure of normal degradation of the accumulated collagen fibres in the resorptive microenvironment by osteoclasts despite normal generation of ruffled membranes and mobilization of bone minerals. If both parents of a diagnosed individual are heterozygous for a CTSK pathogenic variant, siblings of the individual have a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Diagnosis
Pycnodysostosis is one of those disorders which has a typical facial gestalt and can be clinically identified in the majority of cases. Skeletal surveys can also aid in clinical diagnosis and characteristic features include high bone density, acro-osteolysis and obtuse mandibular angle. Molecular testing will be the final resort to confirm the diagnosis. Due to the limited number of exons of the CTSK gene that causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. Treatment and management
The treatment of pycnodysostosis is currently based on symptomatic management and no active trials are in place for a curative approach. The comorbidities like short stature, fracture and maxillofacial issues can be easily managed when identified earlier, which can improve the quality of life of these individuals.
It has been found that men have higher rates of fire-related death and injury than women do, and that African American and American Indian men have higher rates of fire-related death and injury than other ethnic and racial groups. The age group with the highest rate of death from smoke inhalation is people over 85, while the age group with the highest injury rate is people of ages 50–54. Some reports also show increased rates of death and injury in children, due to their lower physical and mental capabilities. In 2019, the overall U.S. national fire death rate was 10.7 people per million population and the injury rate was 50.6 people per million population. Smoke inhalation injury is the most common cause of death in fire victims. Fire victims with both burns to their body and smoke inhalation injury have increased mortality rate and length of hospital stay compared to those with burns alone. Signs and symptoms
Some of the signs and symptoms of smoke inhalation injury include recent fire exposure followed by cough, wheezing, stridor, confusion, difficulty breathing, low oxygen saturation, smoke debris (especially on face and/or in saliva), burns (especially of the face), singed facial or nose hairs, and/or hoarse voice. A careful history can be helpful in determining where the fire occurred and therefore, what chemical fumes could have been inhaled with accompanying systemic toxicities.Smoke inhalation injury can lead to respiratory complications ranging from minor to major.