Slipping Rib Syndrome: An elusive diagnosis.

Slipping rib syndrome remains rarely recognized and frequently undiagnosed or misdiagnosed. Awareness of this condition may prevent extensive and unnecessary diagnostic evaluation and avoid chronic debilitating pain. Persistent lower chest and/or upper abdomen pain after analgesic treatment may suggest the possibility of this disorder. The diagnosis of this syndrome, is a clinical one, based on history and the hooking maneuver. A few cases have been published in the literature, giving no clear consensus about the treatment of this condition. In this overview article, clinical manifestations, diagnostic approach, and treatment modalities of this syndrome will be discussed.

Pulmonary complications of renal disorders.

To manage patients with diseases of the lungs and the kidneys, one must first understand the relationship between respiratory and renal function. In treating acute renal failure (ARF), the clinician often must contend with respiratory manifestations of volume overload and metabolic acidosis. Mechanical ventilation in patients with renal failure (RF) can be challenging, particularly with lung protective ventilation and weaning. Patients with chronic renal failure (CRF) experience several respiratory complications. Hypoxaemia during dialysis is now understood to be a predictable effect of the loss of CO(2) into the dialysate. Critical illness of any primary cause predisposes patients not only to acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) but also to the development of ARF. Meanwhile, the potential for ventilator-induced renal injury has increasingly become the subject of active investigation.

Pulmonary complications of genetic disorders.

Many different pulmonary manifestations are seen in conjunction with genetic disorders. Pulmonary findings have been noted with some cytogenetic conditions, many single gene or mendelian disorders, as well as with a number of inborn errors of metabolism. In addition, congenital lung anomalies are relatively common, occurring as isolated anomalies and as part of multiple anomaly syndromes. Recognition of pulmonary problems in patients with genetic disorders may lead to prompt treatment and intervention, which ultimately might translate into improved outcome. This review is focused on the clinical aspects rather than the basic science; comprehensive reviews on specific disease entities are readily available.

Pulmonary Manifestations of Genetic Disorders in Children.

Congenital bronchopulmonary malformations are relatively common and arise during various periods of morphogenesis. Although some are isolated or sporadic occurrences, others may result from single gene mutations or cytogenetic imbalances. Single gene mutations have been identified, which are etiologically related to primary pulmonary hypoplasia, lung segmentation defects as well as pulmonary vascular and lymphatic lesions. Functional defects in cystic fibrosis, primary ciliary dyskinesias, alpha-1-antitrypsin deficiency, and surfactant proteins caused by gene mutations may result in progressive pulmonary disease. This article provides an overview of pediatric pulmonary disease from a genetic perspective.

Respiratory Complications of Pediatric Neuromuscular Diseases.

Respiration is an event of oxygen consumption and carbon dioxide production. Respiratory failure is common in pediatric neuromuscular diseases and the main cause of morbidity and mortality. It is a consequence of lung failure, ventilatory pump failure, or their combination. Lung failure often is due to chronic aspiration either from above or from below. It may lead to end-stage lung disease. Ventilatory pump failure is caused by increased respiratory load and progressive respiratory muscles weakness. This article reviews the normal function of the respiratory pump, general pathophysiology issues, abnormalities in the more common neuromuscular conditions and noninvasive interventions.

Pulmonary Manifestations of Skin Disorders in Children.

Systemic diseases often manifest with cutaneous findings. Many pediatric conditions with prominent skin findings also have significant pulmonary manifestations. These conditions include both inherited multisystem genetic disorders such as yellow-nail syndrome, neurofibromatosis type 1, tuberous sclerosis complex, hereditary hemorrhagic telangiectasia, Klippel-Trénaunay-Weber syndrome, cutis laxa, Ehlers-Danlos syndrome, dyskeratosis congenita, reactive processes such as mastocytosis, and aquagenic wrinkling of the palms. This overview discusses the pulmonary manifestations of skin disorders.

Cystic Fibrosis Lung Disease: An Overview.

Although better insights into the natural course of cystic fibrosis (CF) have led to treatment approaches that have improved pulmonary health and increased the life expectancy of individuals with this disorder, lung disease remains the main cause of morbidity and mortality in patients with CF. Evidence suggests that airway epithelial defects in ions-water transport lead to dehydrated mucus, impaired mucus clearance, and mucus adhesion to airway surfaces. An increase in mucin secretion is also suggested by the formation of endobronchial mucus plaques and plugs, which become the main sites of air flow obstruction, infection, and inflammation conducing to early small airways disease followed by the development of bronchiectasis. The lung involvement is usually progressive with intermittent exacerbations. Aggressive management and advances in treatment delay, but, do not prevent progression of lung disease. Respiratory failure ensues and is the major cause of death. The lung parenchyma is virtually untouched for much of the course of the disease. This review focuses on the lung involvement in cystic fibrosis and summarizes new developments on the diagnostic approach of CF and pathogenesis of related lung disease. Current therapeutic modalities, novel therapies targeting the basic genetic defect, and lung transplantation are also reviewed.

Cystic fibrosis: an overview.

Cystic fibrosis (CF) is one of the most common inherited disorders of white populations. The isolation and cloning of the gene in CF that encodes the production of a transport protein that acts as an apical membrane chloride channel, termed cystic fibrosis transmembrane conductance regulator (CFTR), have improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has also revealed the disease's complexity. Gene replacement therapy is still far from being used in patients with CF, mostly because of difficulties in targeting the appropriate cells. Life expectancy of patients with this disorder has greatly improved over past decades because of better symptomatic treatment strategies. This article summarizes advances in understanding and treatment of CF.