Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003090 (arthrodesis)
 8,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acromegalic patients have a reduced life expectancy mainly due to cardio-, cerebrovascular and respiratory disorders and increased prevalence of neoplasias. Particularly, the pathogenesis of respiratory disorders in acromegalics is debated. Laryngeal abnormalities are not yet well clarified even if they are frequently involved in the occurrence of respiratory insufficiency. In this study, we report on a 65 year-old acromegalic male suffering from frequent and severe dyspnea attacks and clinical findings of respiratory upperway obstruction, besides the common acromegalic features. At the external examination of the larynx, a bilateral painless and soft mass, located in the laterocervical region under the hyoid bone, was detected. Fiberoptic laryngoscopy, showed bilateral swelling between the aryepiglottic fold and the false vocal cords, whose size increased during the expiration and the phonation, fixity of the vocal cords in paramedian position, with a marked reduction of the respiratory space and increase in arytenoid cartilage size and mucosal edema. Neck and mediastinum CT scan showed the presence of an air containing bilateral swelling, crossing the thyrohyoid membrane. Bilateral cricoarytenoidal joint chondrocalcification, associated to a mixed-type bilateral laryngocele, was diagnosed. Laryngoceles were both surgically removed and a left monolateral arytenoidectomy was performed, using fiberoptic microlaryngoscopy with CO2 laser. The clinical evaluation, one month later, confirmed the complete disappearance of dyspnea and a partial improvement of phonation. Three months later, laryngoscopy showed the bilateral restoration of vocal cords motility and a significant improvement of phonation. This case presents an uncommon and severe respiratory problem in acromegaly such as the fixity of vocal cords associated to laryngocele. Circulating GH and IGF-I hypersecretion caused edema and laxity of laryngeal mucosa as well as bilateral ankylosis of cricoarytenoidal joints. The use of CO2 laser technique via micro-laryngoscopy successfully resolved laryngeal abnormalities.
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PMID:Fixity of vocal cords and laryngocele in acromegaly. 949 7

Use of hydrogen peroxide as a germicide and hemostatic agent during surgery has been associated with gas embolism that can prove fatal. A 15-year-old girl with severe kyphoscoliosis undergoing vertebral arthrodesis by a posterior route experienced worsening of respiratory function and hemodynamic variables coinciding with the massive irrigation of the surgical area with hydrogen peroxide. Noteworthy among the relevant signs was a sharp fall in CO2 end expiratory pressure (PetCO2) and oxygen saturation (SpO2) by pulse oximetry as well as hypotension and bradycardia. The patient died in spite of treatment. Availability of appropriate monitoring allows this type of complication to be suspected early. Other than life support measures, treatment should include elimination of the cause as soon as possible by rinsing the surgical field or the point of gas entry with saline solution, as well as evacuation of the gas through a venous catheter. Although gas embolisms happen much more often than we are able to detect them, most have no important effects. As serious complications may develop under certain circumstances, however, the use of less dangerous irrigation products is advisable.
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PMID:[Fatal gas embolism during corrective surgery for scoliosis using the posterior approach]. 1043 48

The human noggin (NOG) gene is responsible for a broad spectrum of clinical manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which include proximal symphalangism, multiple synostoses, stapes ankylosis with broad thumbs (SABTT), tarsal-carpal coalition syndrome, and brachydactyly type B2. Some of these disorders exhibit phenotypes associated with congenital stapes ankylosis. In the present study, we describe a Japanese pedigree with dactylosymphysis and conductive hearing loss due to congenital stapes ankylosis. The range of motion in her elbow joint was also restricted. The family showed multiple clinical features and was diagnosed with SABTT. Sanger sequencing analysis of the NOG gene in the family members revealed a novel heterozygous nonsense mutation (c.397A>T; p.K133*). In the family, the prevalence of dactylosymphysis and hyperopia was 100% while that of stapes ankylosis was less than 100%. Stapes surgery using a CO2 laser led to a significant improvement of the conductive hearing loss. This novel mutation expands our understanding of NOG-SSD from clinical and genetic perspectives.
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PMID:A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder. 2750 84