ABSTRACT
BACKGROUND: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction. METHODS: A case report is presented and the findings of a literature review are reported. The review involved a PubMed search using the keywords 'pachyonychia congenita' together with 'larynx', 'laryngeal involvement', 'laryngeal obstruction', 'airway obstruction', 'hoarseness' and/or 'stridor'. RESULTS: A five-year-old boy, with confirmed pachyonychia congenita, presented with complications of laryngeal involvement over a four-year period. He required three intubations and a tracheostomy for acute airway obstruction. Treatment with potassium titanyl phosphate laser laryngoscopy stabilised the progression of laryngeal disease. CONCLUSION: Patients with pachyonychia congenita and laryngeal involvement can have a varied presentation, ranging from hoarseness to acute airway obstruction. Management can be a challenge, requiring early evaluation, regular surveillance and aggressive treatment. This paper reports our experience in managing and treating the laryngeal complications of a child with pachyonychia congenita.
Subject(s)
Airway Obstruction/etiology , Laryngeal Diseases/etiology , Pachyonychia Congenita/complications , Airway Obstruction/diagnostic imaging , Airway Obstruction/surgery , Child, Preschool , Congenital Abnormalities/etiology , Dyspnea/etiology , Humans , Laryngeal Diseases/diagnostic imaging , Laryngeal Diseases/surgery , Laryngoscopy , Larynx/abnormalities , Male , Pachyonychia Congenita/diagnostic imaging , Pachyonychia Congenita/surgery , Respiratory Sounds/etiologyABSTRACT
This investigation tested the hypothesis that carriers of golden retriever muscular dystrophy (GRMD), a genetically homologous condition of Duchenne muscular dystrophy (DMD), have quantifiable abnormalities in myocardial function, structure, or cardiac rhythm. Eleven GRMD carriers and four matched controls had cardiac evaluations and postmortem examinations. 24-h ECG Holter monitoring disclosed ventricular ectopy in 10 of 11 carriers and 2 of 4 controls. Conventional echocardiography failed to demonstrate significant differences between carriers and controls in systolic function. All carriers had multifocal, minimal to marked myofiber necrosis, fibrosis, mineralization, inflammation, and/or fatty change in their hearts. Immunohistochemistry revealed a mosaic dystrophin deficiency in scattered cardiac myofibers in all carriers. No controls had cardiac histologic lesions; all had uniform dystrophin staining. Despite cardiac mosaic dystrophin expression and degenerative cardiac lesions, GRMD carriers at up to 3 years of age could not be distinguished statistically from normal controls by echocardiography or 24-h Holter monitoring.
Subject(s)
Dog Diseases/pathology , Heart/physiopathology , Muscular Dystrophy, Animal/pathology , Myocardium/pathology , Animals , Disease Models, Animal , Dog Diseases/genetics , Dog Diseases/physiopathology , Dogs , Echocardiography/veterinary , Electrocardiography/veterinary , Electrocardiography, Ambulatory/veterinary , Female , Heterozygote , Muscular Dystrophy, Animal/genetics , Muscular Dystrophy, Animal/physiopathologyABSTRACT
The neobladder, an intestinal bladder substitute, allows select patients to void naturally through the urethra, and has become an increasingly popular form of continent urinary diversion surgery. The criteria for patient selection and the principles of surgical construction of the Studer pouch that must be met to achieve the best functional results for these patients are outlined.
Subject(s)
Patient Selection , Urinary Diversion/methods , Urinary Reservoirs, Continent , Humans , Ileum/surgeryABSTRACT
Successful results for patients undergoing neobladder surgery demand meticulous surgical technique, as well as expert nursing management and patient education. Current practice and guidelines developed for the Hospital of the University of Pennsylvania for the nursing management of patients undergoing Studer pouch surgery are delineated.
Subject(s)
Perioperative Care/nursing , Urinary Diversion/nursing , Urinary Reservoirs, Continent , Humans , Ileum/surgery , Patient Education as Topic , Postoperative Complications/nursing , Urinary Diversion/methodsABSTRACT
Delirium (acute confusional states) is the most common organic mental problem in older hospitalized surgical patients. In this review, clinical features, postoperative etiologies, associated negative outcomes, barriers to recognition and treatment, and principles of nursing management are described. An empirically-based, practical resource for surgical nurses is presented to improve safe patient management.
Subject(s)
Confusion/nursing , Postoperative Care/methods , Postoperative Complications/nursing , Acute Disease , Aged , Confusion/etiology , Humans , Perioperative Nursing , Postoperative Complications/etiologyABSTRACT
Meningoencephaloceles are not commonly seen by the otolaryngologist. They occur most frequently in the lumbosacral area where they are five times as common as in the occipital area. The anterior cranial presentation is quite rare. Most patients with meningoencephaloceles present early with large lesions and are treated by the neurosurgeon. Two patients are presented who had small meningoencephaloceles which are located in the paranasal sinuses and successfully treated by an extracranial approach. This approach is recommended for those lesions of the paranasal sinus where the resulting bony defect from the removal of the lesion is small and the sinus in not infected.