Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pycnodysostosis is a rare autosomal recessive skeletal disorder involving a constellation of craniofacial manifestations including midface retrusion. We report the case of a 13-year-old girl with pycnodysostosis who presented with exorbitism, midface retrusion, malocclusion, and obstructive sleep apnea. Here, we describe the successful use of subcranial Le Fort III advancement using distraction osteogenesis with internal Kawamoto distracters. After a latency of 5 days, distraction for 10 days, and consolidation for 12 weeks, her midface was advanced by 10 mm with slight overcorrection at the occlusion level. At 2 years postoperatively, the patient had complete remission of her sleep apnea, resolution of her exorbitism, and amelioration of her class III malocclusion to class I. To the best of our knowledge, this is the first report of a successful subcranial Le Fort III midface advancement with distraction osteogenesis for craniofacial reconstruction of a pycnodysostosis. Our report highlights the surgical options that have been described for this craniofacial deformity and presents a novel and expedient approach for patients with pycnodysostosis presenting with exorbitism, midface retrusion, and/or sleep apnea.
...
PMID:A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism. 2385

Midface hypoplasia or retrusion remains a persistent feature of syndromic craniosynostosis years after successful treatment of the cranium. Although expansion of the cranial vault in infancy by traditional fronto-orbital advancement, posterior expansion, or both, can treat the immediate intracranial constriction, midface hypoplasia and its stigmata of exorbitism, sleep apnea, central face concavity, and malocclusion remain suboptimally treated. Initial enthusiasm for the procedures was tempered due to a high rate of infectious complications; timing and indications for surgery continue to stir controversy. During the last decade renewed interest with the monobloc and facial bipartition procedure using distraction osteogenesis with either an internal or external distraction system has decreased morbidity significantly. These procedures have re-emerged as powerful and comprehensive tools in the treatment of syndromic midface hypoplasia.
...
PMID:Advances in the Treatment of Syndromic Midface Hypoplasia Using Monobloc and Facial Bipartition Distraction Osteogenesis. 2641 8

Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
...
PMID:Craniofacial syndromes and sleep-related breathing disorders. 2645 41

A 26-year-old man presented with a 6-year history of severe obstructive sleep apnoea syndrome followed a bimaxillary osteotomy procedure for a class III skeletal pattern. The patient was born with a unilateral cleft lip and palate and underwent primary lip and palate repair and later a pharyngeal flap for severe velopharyngeal insufficiency. Surgical management of obstructive sleep apnoea syndrome with conventional osteotomy, in cleft lip and palate patients, is a difficult problem. Distraction osteogenesis may provide a safer alternative. The authors describe and discuss the indications and the technical challenge of a multistage treatment protocol with distraction osteogenesis.
...
PMID:The Management of Iatrogenic Obstructive Sleep Apnoea Syndrome Following Bimaxillary Surgery in a Patient with Cleft Lip and Palate. 2739 99

Pediatric obstructive sleep apnea, characterized by partial or complete obstruction of the upper airway during sleep, is associated with multiple adverse neurodevelopmental and cardiometabolic consequences. It is common in healthy children and occurs with a higher incidence among infants and children with craniofacial anomalies. Although soft-tissue hypertrophy is the most common cause, interplay between soft tissue and bone structure in children with craniofacial differences may also contribute to upper airway obstruction. Snoring and work of breathing are poor predictors of obstructive sleep apnea, and the gold standard for diagnosis is overnight polysomnography. Most healthy children respond favorably to adenotonsillectomy as first-line treatment, but 20 percent of children have obstructive sleep apnea refractory to adenotonsillectomy and may benefit from positive airway pressure, medical therapy, orthodontics, craniofacial surgery, or combined interventions. For children with impairment of facial skeletal growth or craniofacial anomalies, rapid maxillary expansion, midface distraction, and mandibular distraction have all been demonstrated to have therapeutic value and may significantly improve a child's respiratory status. This Special Topic article reviews current theories regarding the underlying pathophysiology of pediatric sleep apnea, summarizes standards for diagnosis and management, and discusses treatments in need of further investigation, including orthodontic and craniofacial interventions. To provide an overview of the spectrum of disease and treatment options available, a deliberately broad approach is taken that incorporates data for both healthy children and children with craniofacial anomalies.
 ...
PMID:Pediatric Obstructive Sleep Apnea: Consensus, Controversy, and Craniofacial Considerations. 2906 38

Our aim was to summarise current published evidence about the prognosis of various techniques of craniofacial distraction osteogenesis, particularly its indications, protocols, and complications. Published papers were acquired from online sources using the keywords "distraction osteogenesis", "Le Fort III", "monobloc", and "syndromic craniosynostosis" in combination with other keywords, such as "craniofacial deformity" and "midface". The search was confined to publications in English, and we followed the guidelines of the PRISMA statement. We found that deformity of the skull resulted mainly from Crouzon syndrome. Recently craniofacial distraction has been achieved by monobloc distraction osteogenesis using an external distraction device during childhood, while Le Fort III distraction osteogenesis was used in maturity. Craniofacial distraction was indicated primarily to correct increased intracranial pressure, exorbitism, and obstructive sleep apnoea in childhood, while midface hypoplasia was the main indication in maturity. Overall the most commonly reported complications were minor inflammatory reactions around the pins, and anticlockwise rotation when using external distraction systems. The mean amount of bony advancement was 12.3mm for an external device, 18.6mm for an internal device and 18.7mm when both external and internal devices were used. Treatment by craniofacial distraction must be validated by long-term studies as there adequate data are lacking, particularly about structural relapse and the assessment of function.
 ...
PMID:Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers. 2966 9

The purpose of this study was to evaluate the sequential treatment of patients with temporomandibular joint (TMJ) ankylosis and secondary deformities by distraction osteogenesis and subsequent arthroplasty or TMJ reconstruction. This study included 40 patients treated at a stomatological hospital in China; they ranged in age from 9 to 53years (mean age 24.5years). Ten of these patients were diagnosed with unilateral TMJ ankylosis and 30 with bilateral TMJ ankylosis. Twenty-seven patients also presented obstructive sleep apnoea-hypopnoea syndrome (OSAHS). All patients underwent distraction osteogenesis as the initial surgery, followed by arthroplasty or TMJ reconstruction. Some patients underwent orthognathic surgery to improve occlusion and face shape along with or after arthroplasty or TMJ reconstruction. The therapeutic effects were evaluated in terms of the improvements in maximum inter-incisal opening (MIO), appearance, and respiratory function. After the completion of treatment, all patients showed improvements in MIO and appearance, and the symptom of snoring disappeared. The airway space was significantly increased. Patient follow-up ranged from 6 to 85months (mean 28.3months), and four patients experienced relapse. This study suggests that treating TMJ ankylosis with secondary deformities by distraction osteogenesis as the initial surgery and arthroplasty or TMJ reconstruction as the second-stage treatment may achieve favourable outcomes, especially for patients with OSAHS; however, some patients may require orthognathic surgery.
 ...
PMID:The sequential treatment of temporomandibular joint ankylosis with secondary deformities by distraction osteogenesis and arthroplasty or TMJ reconstruction. 2970 39

This article provides a review of the existing literature regarding driving limitations following lower extremity orthopedic surgery. Medicolegal requirements and insurance recommendations are often vague and subject to interpretation. Several studies have examined the impact of surgery and immobilization on brake reaction time. This study summarizes the findings of these studies. Additionally, the authors consider the impact of lower extremity amputations and peripheral vascular disease on driving. Literature regarding opioid use, obesity, sleep apnea, increasing age, and distraction is also reviewed. An improved understanding of these topics will enhance the orthopedic surgeon's ability to counsel patients and optimize their safety.
 ...
PMID:Patient Safety: Driving After Foot and Ankle Surgery. 3022 14

Pycnodysostosis (PYCD) is a rare autosomal-recessive skeletal disorder that typically presents with osteosclerosis of the majority of the postcranial skeleton and osteolysis of the calvarium, manifesting as persistent open cranial fontanelles and widely spaced cranial sutures. Craniosynsostosis in PYCD is a somewhat paradoxical feature, and has only been rarely reported. The authors present a unique case of a 6-year-old girl with PYCD, multisuture craniosynostosis involving the coronal and sagittal sutures, severe obstructive sleep apnoea, and raised intracranial pressure presenting as papilledema. She underwent a frontofacial monobloc distraction advancement which successfully corrected her papilledema and obstructive sleep apnoea.Pycnodysostosis is caused by a loss of function mutation in the CTSK gene that codes for the lysosomal cysteine protease, cathepsin K (CTSK). Loss of CTSK impairs the ability of osteoclasts to degrade bone extracellular matrix. Differences in osteoclast phenotype and extracellular matrix composition between membranous and cartilaginous bone may explain the clinical features of PYCD. Animal model studies suggest that craniosynostosis may arise due to variations in patient genetic background.
 ...
PMID:Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox? 3039 69

The surgical management of paediatric patients with temporomandibular joint (TMJ) ankylosis, mandibular retrognathia and obstructive sleep apnoea (OSA) is challenging. We report a nine-year-old boy who presented to the Department of Oral Health, Sultan Qaboos University Hospital, Muscat, Oman, in 2016 with complaints of limited mouth opening, loud snoring and excessive daytime sleepiness. He was diagnosed with TMJ ankylosis, mandibular retrognathia and severe OSA. The patient initially underwent mandibular distraction and, subsequently, release of the TMJ ankylosis and rib graft reconstruction. The overall patient outcome was successful, with improvement in OSA-related symptoms, good facial symmetry and adequate mouth opening.
 ...
PMID:A Triad of Temporomandibular Joint Ankylosis, Mandibular Retrognathia and Severe Obstructive Sleep Apnoea: Case report. 3060 82


<< Previous 1 2 3 4 Next >>