Kyphoscoliosis complicating asthma with fixed airway obstruction.

Introduction: Kyphoscoliosis is present in up to 2% of the juvenile population and can have deleterious effects on respiratory mechanics, leading to chronic respiratory failure later on in adult life. Case presentation: Hereby we describe a 53-year-old patient with severe uncontrolled asthma who presented with chronic hypercapnic respiratory failure. During her medical workup, she was noted to have several comorbidities leading to her respiratory failure. The patient had radiological evidence of bronchiectasis with recurrent episodes of infection, and a severe deformity of the spine due to Kyphoscoliosis. Probably the kyphotic component of this deformity had worsened due to a long history of oral steroid use leading to severe osteoporosis and consequent vertebral compression fractures reaching a Cobb angle of 73 degrees. This was probably caused by the patient's non-compliance with inhaler therapy and an excessive reliance on oral steroid use. Her respiratory failure was treated with domiciliary noninvasive positive pressure ventilation and 24-hour oxygen therapy and her symptoms improved. Conclusion: A multidisciplinary approach across different specialities is necessary when managing such a patient with kyphoscoliosis, bronchiectasis, asthma with airflow limitation with respiratory failure.

Genetic determinants of low birth weight.

Birth weight depends on the elaborate interaction between maternal and fetal genotypes, placental function, maternal nutrition and lifestyle and their effect on epigenetic regulators of gene activity. The maternal environment in which the fetus develops is a critical factor in determining birth weight. This review provides an overview of the effect of several genetic variants leading to intrauterine growth restriction and low birth weight. Irrespective of the exact cause of genetic variations of fetal genes, intrauterine growth restriction is most likely due to alteration in the growth hormone and insulin like growth factor axis with distinct changes in the growth factors and their interaction with corresponding receptors. Interactions also occur between the fetal genotype and the intrauterine environment, influencing expression certain genes required for fetal growth. Genomic imprinting is an important mechanism whereby the restraint of fetal growth could be determined through the maternal line. Furthermore, maternal cigarette smoking results in genetic variations in two specific genes, which interact synergistically, resulting in low birth weight. Confined placental mosaicism can also lead to clinically compelling intrauterine growth restriction or even intrauterine fetal death.