Biomedical subjects
Publications and source records attributed to D Myssiorek.
Paragangliomas of the head and neck are unique tumors. Their pathology, tissue of origin, location, genetics, potential for bio-chemical activity, multicentricity, and growth pattern are unusual compared with more common head and neck tumors. Because these tumors are widespread and can appear in the ear, neck, larynx, nose, orbit, and chest, they cross subspecialties of otolaryngology.
Paragangliomas of the head and neck are derivatives of neural crest cells, comprising part of the diffuse neuroendocrine system. Indeed, paragangliomas encompass a unique subset of tumors of the head and neck. Their biochemistry and physiology are similar to other neuroendocrine tumors unlike tumors based on location. This article discusses their distinct biologic attributes.
Laryngeal paragangliomas are classified as supraglottic and infraglottic. This article defines each type of paraganglioma, discusses the clinical features and diagnoses, and covers the surgical management. This article also addresses sinonasal paragangliomas, including their clinical features, diagnosis, and treatment.
OBJECTIVE: The goal of this study was to assess voice after radiotherapy compared with patients with presbylaryngeal dysphonia. STUDY DESIGN AND SETTING: Prospective assessment of 20 patients aged 60+ years who remained free of disease longer than 1 year after radiotherapy for T1 squamous cell carcinoma and retrospective review of 46 patients aged 60+ with presbylaryngeal dysphonia, conducted at a tertiary care, academic hospital. Assessment data included videostroboscopy, spectrography, voice range profile, and Voice Handicap Index. RESULTS: Eighty percent of the radiotherapy patients reported a voice disorder. Acoustic data and functional measures reflected similar limitations and abnormalities for both groups. A high incidence of glottal gap in all patients may have been associated with increased mucosal stiffness in the radiotherapy group and vocal fold atrophy in the presbylaryngeal group. CONCLUSION: Patient perception and functional outcome of voice were similar for both groups, despite differences in etiology of abnormal vocal fold vibratory behavior. SIGNIFICANCE: Radiotherapy in older individuals may yield dysphonia that is no greater than that caused by normal aging.
OBJECTIVE: The surgical excision of benign submucosal lesions of the larynx can be performed using a variety of techniques including direct laryngoscopy and external approaches. We propose that small submucosal lesions of the larynx can be removed via the external approach without a tracheotomy. STUDY DESIGN: Retrospective chart review. SETTING: Six patients at The Long Island Jewish Medical Center and at the New York University School of Medicine underwent an external approach for the removal of benign submucosal laryngeal lesions without tracheotomies. Lesions included a mixed laryngopyocele, an internal laryngopyocele, a mixed laryngocele, a paraganglioma, a neurilemmoma and a lymphoma. Follow-up ranged from 1 to 9 years. RESULTS: All patients were female with an average age of 72. No patient required a tracheotomy. One patient remained intubated for 24 hours postoperatively to ensure an adequate airway. Mild dysphagia was noted in all patients, but it was short-lived and did not require alternate methods of alimentation. There have been no recurrences of disease. CONCLUSION: The external approach without tracheotomy allows for good exposure with minimal functional disability for the removal of benign submucosal lesions of the larynx.
The objective of this study was to determine the presence of oestrogen and/or progesterone receptors in laryngeal pyogenic granulomas and the impact of these receptors on recurrence of pyogenic granulomas. Twenty-two consecutive patients who underwent microlaryngoscopy and removal of pyogenic granulomas were studied retrospectively. The indications for surgery were airway compromise, failure of medical therapy and suspicion of malignancy. Twelve of these patients' granulomas were analysed for oestrogen and progesterone receptors. Charts were analysed for age, sex, location of the lesion, history of trauma, intubation or gastroesophageal reflux disease (GORD), airway symptoms and recurrence. Oestrogen/progesterone receptors were analysed following deparaffinization of specimens and immunostaining with prediluted anti-oestrogen receptor monoclonal antibody and anti-progesterone receptor monoclonal antibody. No sample expressed oestrogen or progesterone receptors. There were too few recurrences to detect if lack of these receptors played any role in determining outcome in this group. Most of the patients had a history of GORD, intubation or laryngeal surgery. There were 12 recurrences in four patients. All of the recurrences improved on prolonged courses of omeprazole. Pyogenic granulomas do not possess oestrogen or progesterone receptors and are unlikely to respond to hormonal therapy. Patients who have, or are being operated on for, laryngeal pyogenic granulomas should be placed on proton pump inhibitors to decrease the likelihood of recurrence.
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.
Dermoid cysts of the oral cavity are rare. When they do occur, the most common site is the floor of the mouth. Intralingual dermoid cysts are even more rare, and until now, there were only 15 such reports in the English-language literature. In this article, we describe two additional cases. Magnetic resonance imaging is extremely helpful in establishing a differential diagnosis. Surgical excision is recommended to correct deglutition and speech problems. Its rarity notwithstanding, dermoid cyst should be considered in the differential diagnosis of tongue masses in the younger population.
Vocal fold paralysis as a result of a thyroid abscess is extremely rare. In this article, we report only the second documented case of such a finding. The paralysis was discovered after our patient, a 40-year-old woman, had come to the office with a complaint of discomfort in the right lower neck. Computed tomography confirmed the presence of an abscess in the posterior thyroid gland. Fine-needle aspiration did not identify any inflammatory or suspicious cells. The abscess was treated with hemithyroidectomy, and the paralysis resolved 3 weeks later. There has been no recurrence after 4 years.
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Hereditary paragangliomas (PGL, glomus tumors, MIM no.168000) are mostly benign, slow-growing tumors of the head and neck region. The gene (or genes) affecting risk to PGL are subject to genomic imprinting: children of affected fathers exhibit an autosomal dominant pattern of disease inheritance, whereas children of affected mothers rarely if ever develop the disease through maternal transmission. We previously confined the disease gene to an approximately 6 Mb critical region on chromosome band 11q23 (PGL1). Based on haplotype analysis of an extended Dutch pedigree, a 2 Mb sub-region between D11S938 and D11S1885 was proposed as the PGL1 critical interval. In this study, we excluded this interval by analysis of two new single tandem repeat polymorphisms (STRP) contained therein. Instead, we predicted a non-overlapping, more proximal 2 Mb critical interval between D11S1647 and D11S897, and evaluated this new region using nine STRP (D11S1986, five new, closely-linked STRP, D11S1347, D11S3178, and D11S1987). Consistent with our prediction, we observed substantial haplotype-sharing within the Dutch pedigree. We also analyzed four new American PGL families. A recombination event detected in one family further defined D11S1347 as the new telomeric border. We observed significant haplotype-sharing within this new interval among three unrelated American PGL families, strongly suggesting that they originated from a common ancestor. Thus, we confined PGL1 to an approximately 1.5 Mb region between D11S1986 and D11S1347, and showed identity-by-descent sharing for a group of American PGL families.
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Approximately 10% of head and neck paragangliomas are familial. Magnetic resonance imaging (MRI) is reported to be the best method for screening these families. 111Indium pentetreotide (Octreoscan) scintigraphy has been shown to be a sensitive indicator of neural crest tumors such as paragangliomas. Early diagnosis and treatment of familial paragangliomas (FP) would decrease the morbidity of tumor excision. Patients from two kindred with FP were scanned 24 hours after intravenous injection with approximately 6 millicuries of 111Indium pentetreotide. The entire body was imaged. Areas of increased uptake were further imaged with MRI. Altogether, five patients had positive 111Indium pentetreotide scans. Two unsuspected glomus tympanicums and bilateral carotid body tumors were identified. Three people tested had no abnormal uptake. There were no untoward reactions to the nuclide. 111Indium pentetreotide scanning is a safe, noninvasive method for early diagnosis of FP and is useful in detecting multicentric lesions. Patients suspect for FP are undergoing 111Indium pentetreotide imaging and followed up with MRI of the involved site if positive.
OBJECTIVE: At our institution, percutaneous gastrostomy tubes have been inserted under fluoroscopic guidance (fluoroscopic cutaneous gastrostomy [FPG]), thereby avoiding the need to traverse the pharynx and esophagus with a large-bore esophagoscope. For this reason, placement in the postoperative patient does not jeopardize the surgical reconstruction. METHODS: Thirty-five patients underwent percutaneous gastrostomy placement under fluoroscopic guidance. These included 12 patients whose cervical esophagus could not be entered safely because of a lesion in the head neck, 11 patients who had recently undergone resection of a head and neck cancer with pharyngeal reconstruction where traditional percutaneous enteral gastrostomy (PEG) placement was contraindicated, and two patients with postoperative fistulae. RESULTS: Thirty-four of 35 patients underwent successful gastrostomy or gastrojejunostomy placement. One patient had an intrathoracic position of the stomach, and one patient required repeat placement because the tube dislodged 5 days after insertion. No tube occluded. CONCLUSIONS: Percutaneous gastrostomy under fluoroscopic guidance (FPG) is an effective, safe method for access for prolonged enteral feeding of the patient whose cervical esophagus cannot be accessed for a variety of reasons. It also allows the safe placement of a gastrostomy catheter when the patient's postoperative course becomes complicated and prolonged enteral nutrition is required.
About 11,600 cases of laryngeal cancer were reported in the United States in 1995, accounting for 1% of all reported cancers. Fewer than 1% of laryngeal cancers are sarcomas, osteosarcoma being the rarest type. Twelve cases of laryngeal osteosarcoma have been cited in the literature. A 47-year-old man presented with hoarseness following a benign vocal polypectomy. The entire larynx appeared swollen, although both vocal folds moved well. Biopsies did not reveal pathologic tissue. Computed tomographic imaging revealed a destructive, expansile lesion of the thyroid cartilage. A computed tomography-guided biopsy of this cartilage revealed a high-grade sarcoma. Laryngeal osteosarcoma was diagnosed following total laryngectomy. Laryngeal osteosarcoma is a highly malignant neoplasm with early hematogenous spread. Survival statistics for peripheral osteosarcoma are poor. Limited experience reveals that a combination of surgery and radiotherapy with adjuvant chemotherapy can offer some palliation. The literature and published cases of laryngeal osteosarcoma are reviewed.
Cerebrovascular disease is a major cause of death in patients with end-stage renal disease, particularly in those with diabetes mellitus. Cardiac disease frequently presents itself atypically in diabetic patients. This awareness has led to earlier detection and treatment of cardiac disease in diabetic patients. Whether cerebrovascular disease may also present itself in a highly atypical fashion in the diabetic patient with end-stage renal disease has never been addressed. We report the case of a diabetic hemodialysis patient who had an extremely unusual manifestation of stroke. A 67-year-old diabetic hemodialysis patient had marked distress secondary to the sudden onset of a foreign body sensation in the oropharynx. Results of a laryngoscopy were negative; x-rays of the neck and computerized tomography of the head and neck showed no abnormalities. Neurologic evaluation revealed an inability to detect oropharyngeal stimuli and an absent gag reflex but no other deficits. Magnetic resonance imaging of the brain revealed an infarction in the left corona radiata that extended to the thalamocapsular region and external capsule, and a lacunar infarct in the right pons. Cerebrovascular disease in the diabetic patient with end-stage renal disease may present itself atypically, and we suggest that cerebrovascular disease in these patients merits the same level of suspicion as cardiac disease.
Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from carrier fathers in an autosomal dominant fashion subject to genomic imprinting. Genetic linkage analysis in two large, unrelated Dutch families assigned PGL loci to two regions of chromosome 11, at 11q23 (PGL1) and 11q13.1 (PGL2). We ascertained a total of 11 North American PGL families and confirmed maternal imprinting (inactivation). In three of six families, linkage analysis provided evidence of linkage to the PGL1 locus at 11q23. Recombinants narrowed the critical region to an approximately 4.5-Mb interval flanked by markers D11S1647 and D11S622. Partial allelic loss of strictly maternal origin was detected in 5 of 19 tumors. The greatest degree of imbalance was detected at 11q23, distal to D11S1327 and proximal to CD3D. Age at onset of symptoms was significantly different between fathers and children (Wilcoxon rank-sum test, P < .002). Affected children had an earlier age at onset of symptoms in 39 of 57 father-child pairs (chi2 = 7.74, P < .006). However, a more conservative comparison of the number of pairs in which a child had > or = 5 years earlier age at onset (n = 33) vis-a-vis that of complementary pairs (n = 24) revealed no significant difference (chi2 = 1.42, P > .2). Whether these data represent genetic anticipation or ascertainment bias can be addressed only by analysis of a larger number of father-child pairs.
Hemorrhage is the most frequent complication of tonsillectomy and is responsible for the majority of post-tonsillectomy fatalities. The incidence of this hemorrhage has been reported to be as high as 20% [6]. Despite continued efforts to reduce this problem, it remains a persistent risk. The charts of 1138 patients who underwent tonsillectomy with or without adenoidectomy from 7-1-89 to 6-30-93 were reviewed. Post-tonsillectomy hemorrhage occurred in 36 patients (3%). Preoperative, intraoperative and postoperative risk factors were assessed. Postoperative bleeding occurred more often in older patients (69% over age 11 years). Seventy-five per cent of these patients were operated on for chronic tonsillitis as compared to 11% operated on for upper airway obstruction. The majority of these patients presented after postoperative day 1 (83%). Four patients required blood transfusions. Postoperative hemorrhage occurred in 14% of patients with elevated postoperative mean arterial pressures. Intraoperative blood loss that exceeded 50 cm3 was also a significant risk factor for post-tonsillectomy hemorrhage. It is concluded that older age, a history of chronic tonsillitis, excessive intraoperative blood loss and elevated postoperative mean arterial pressure are significant risk factors for post-tonsillectomy hemorrhage. An awareness of these risk factors can help identify patients with potential to bleed postoperatively.