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Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis.This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, and psychological issues emanating from anxiety about acceptance among ...
Kyphosis (from Greek κυφός (kyphos) 'hump') is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. [1] [2] Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
Viljoen–Kallis–Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height/short stature, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.
A pre-operative image of a 22-year-old male with a very extreme case of Scheuermann's disease. Scheuermann's disease is a skeletal disorder. [3] It describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior.
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
It is a type of chronic pulmonary fibrosis characterized by a progressive and irreversible decline in lung function. [6] [3] [4] The tissue in the lungs becomes thick and stiff, which affects the tissue that surrounds the air sacs in the lungs. [7] Symptoms typically include gradual onset of shortness of breath and a dry cough. [1]
McDonough syndrome, also known as Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects.
In this manner, the harmful effects of ROS are increased and cause greater oxidative stress on the lung cells, leading to potential tumor formation. This inhibitory mechanism is important because it may suggest that the regulatory mechanisms in PKM2 are responsible for aiding cancer cell resistance to oxidative stress and enhanced tumorigenesis.
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