Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations. An in-depth study was carried out by the following search engines: PubMed, Scopus, clinic key and direct science for articles that have been published from 2011 until 2020. One hundred and sixty-one mutations were found in 1641 tested patients and three families, including 78 novel mutations. We identified a no significant difference in the sex ratio and the bilaterality was reported in the majority of patients. We have shown through this study that inbreeding plays an important role in the pathogenesis of PCG transmission compared to the sporadic mutations that have been found in some cases. The majority of the included studies were from ASIA (64.3%), followed by Europe (17.85%), America (10.71%) and Africa (7.14%). The first and most common mutation in our study is 182 G>A (p.Gly61Glu). It was identified in Iran, Portugal and Saudi Arabia and for the first time in Brazil and Vietnam. The greatest number of mutations in common is p.Gly61Glu. Mainly within five countries: Iran, Portugal, Saudi Arabia, Brazil and Vietnam. The first step in PCG screening should be a genetic test looking for founder and common mutation coupled with a clinical examination.

Smoking cessation intervention for patients with head and neck cancer: A prospective randomized controlled trial.

AIMS: To evaluate the effectiveness of a brief smoking cessation intervention in head and neck cancer patients (HNCP). STUDY DESIGN: A prospective randomized controlled trial that randomly assigns participants in two groups: a usual care group (UCG), and a standardized intervention group (SIG). MATERIAL AND METHODS: Patients with a confirmed diagnosis of head and neck squamous cell carcinoma (HNSCC) and who are active smokers were prospectively approached by one of 4 trained Ear-nose-throat (ENT) residents. Participants were randomized into a UCG, and a SIG consisting of a brief perioperative smoking cessation intervention based on National Institute of Health (NIH) "5A's" model along with an informative motivational document and nicotine patch therapy (NPT) offered for 8 weeks in gradually decreasing doses. OBJECTIVE: The evaluation of abstinence at 3, 6 and 12 months after enrollment. RESULTS: 56 subjects were randomized into the UCG (N = 29, 52%), and the SIG (N = 27, 48%). The overall smoking cessation rates were not statistically different between the two groups; we observed at 3 months cessation rates of 57.1% vs. 57.7% (p = 0.96); at 6 months, 42.9% vs. 24% (p = 0.148); and at 12 months, 33.3% vs. 20.8% (p = 0.318), for the UCG and the SIG respectively. CONCLUSION: This study failed to show the effectiveness of a combined brief smoking cessation approach led by and ENT resident in HNSCC patients. A multifaceted approach addressing different pharmacological treatments, factors contributing to smoking maintenance, mainly alcohol dependence and mood disturbances and dealing with relapse risks through close face-to-face or phone call follow-ups may have better outcomes and should be evaluated in upcoming trials.

Cricoarytenoid joint arthritis: a possible complication of dermatomyositis.

Cricoarytenoid joint arthritis is most frequently reported in Rheumatoid Arthritis and in other systemic diseases such as Sjogren's syndrome, Systemic Lupus Erythematosus, Ankylosing Arthritis, Juvenile Chronic Arthritis, and autoimmune hepatitis but it has not been reported in dermatomyositis. In this paper, we report the case of a 43 years-old woman treated for dermatomyositis who presented with hoarseness and severe odynophagia. The laryngoscopy revealed the presence of an extensive white swelling of the left cricoarytenoid joint with reduced mobility of the left vocal cord, consistent with left cricoarytenoid joint arthritis, which has not previously been described in dermatomyositis to our knowledge. Treatment with high doses of prednisone produced a complete resolution of the laryngeal symptoms.

Primary neuroendocrine tumors of the ear, nose and throat: A report of three cases and a review of the literature.

The aim of the present study was to review all cases of neuroendocrine tumors of the ear, nose and throat in a tertiary care center, as well as the data published in the literature. The study presents all the cases of neuroendocrine tumors (NETs) in the Hotel Dieu De France Hospital (Beirut, Lebanon) between January 2004 and January 2014. The data reported in the English and French literature is also reviewed with regard to the typical clinical presentation and management of these tumors. Three cases of NETs presented to the Department of Otolaryngology-Head and Neck Surgery during the study period. One case was of an atypical carcinoid (AC) tumor of the larynx, one case was of a typical carcinoid tumor in the middle ear and the third case was, to the best of our knowledge, the first reported case of an AC tumor of the nasopharynx. Overall, NETs are rare in the head and neck. The clinical presentation can mimic any other tumor in the same localization in the absence of a carcinoid syndrome. Management of these tumors remains controversial, but a complete excision of the tumor is crucial, followed by possible adjuvant treatment.

Survival of T4aN0 and T3N+ laryngeal cancer patients: a retrospective institutional study and systematic review.

OBJECTIVE: We aim to assess the correlation of tumor and nodal staging to survival in pT3N+ and T4aN0 laryngeal cancer with subgroup analysis within stage IVa (pT4N0 and pT3N2). STUDY DESIGN: Retrospective cohort study with systematic review of the literature. SETTING: Hotel Dieu de France University Hospital (tertiary referral center). SUBJECTS AND METHODS: Laryngeal cancer patients' registries were reviewed from 1998 to 2012 selecting pT3N+ and pT4aN0 patients treated by primary total layngectomy. Overall survivals were compared using Log rank and Kaplan-Meier analysis. A systematic review was performed by 2 reviewers including all the articles reporting the outcome of these categories of patients. Online databases, including PubMed and EMBASE, were used. Reference sections of identified studies were examined for additional articles. RESULTS: Thirteen T3N+ patients and 19 T4aN0 patients treated by primary total laryngectomy were included. Five-year overall survival for T3N+, T3N2 and T4aN0 was respectively 33%, 32.1% and 73.7%. Due to the small sample, the difference was not significant. The systematic review revealed three articles reporting overall survival outcome for the T4N0 group and 6 articles for the T3N+. At 5years, the survival ranged from 62.5% to 73% in T4N0 and from 32.2% to 77% in T3N+. CONCLUSION: In advanced stage laryngeal cancer, T4aN0 tends toward a better survival than T3N+ especially when compared to T3N2 although they are grouped in the same TNM stage IVa.

Solitary Laryngeal Metastasis from Transitional Cell Carcinoma of the Kidney: Clinical Case and Review of the Literature.

The urogenital tract is a rare origin of laryngeal metastasis; transitional cell carcinoma with laryngeal metastases had never been reported previously. In this paper, we describe the clinical and pathological characteristics, evolution, and treatment of the first reported case of a laryngeal metastasis of a TCC followed by a brief review of the literature.

PAROTID TUMORS: IS SURGERY ALWAYS THE ONLY WAY?

AIM OF THE STUDY: To analyze the characteristics and management of parotid tumors in a tertiary care center. STUDY DESIGN: Retrospective cohort study. METHODS: All cases of parotid tumors (or masses) in our department between Jan 1, 1999 and December 31st, 2012 were studied. Demographic data, clinical characteristics, histopathology and management were analyzed. We also evaluated the diagnostic value of fine needle aspiration cytology (FNAC) in our center. RESULTS: Of the 216 parotid tumors, 164 underwent parotidectomy and 52 were not managed surgically; 73.1% had a benign tumor (36.6% had Warthin's tumor) and 16.7% had a malignant one. In our center, FNAC was found to have a sensitivity for reporting malignancy of 71.4% and a specificity to rule in malignancy of 100%. CONCLUSION: In our series, Warthin's tumor was the most frequent mass probably related to the high tobacco use. The prevalence of malignant tumors was relatively high in our series. Primary malignant tumors and pleomorphic adenomas should always be treated surgically, however, lymphomas, metastatic and benign inflammatory masses and cases of Warthin's tumors could be managed nonsurgically.

Exclusive endoscopic resection of juvenile nasopharyngeal angiofibroma: a systematic review of the literature.

OBJECTIVE: To systematically review the exclusive endoscopic treatment of juvenile nasopharyngeal angiofibroma in the literature to define the clinical features in terms of staging and the treatment outcomes in terms of bleeding, recurrence, residual tumor, and complications. DATA SOURCES: Online databases, including PubMed and EMBASE, were used. Reference sections of identified studies were examined for additional articles. REVIEW METHODS: The literature was searched by 2 reviewers with the following inclusion criteria: English or French language and exclusive endoscopic treatment of juvenile nasopharyngeal angiofibroma. We were only able to perform a meta-analysis on the categorical outcomes using DerSimonian and Laird random effects models. RESULTS: Ninety-two studies were included with a majority of retrospective studies (54/92; 58.6%). No randomized controlled trials were found. A total of 821 patients were identified. The Radowski classification was the most commonly used (29/92; 31.15%). The mean operative blood loss was 564.21 mL (minimum, 20 mL; maximum, 1482 mL). It was 414.6 mL (minimum, 20 mL; maximum, 1000 mL) and 774.2 mL (minimum, 228 mL; maximum, 1482 mL), respectively, in the group with and without embolization. No conclusion could be made because it was not stratified by tumor stage and because of the absence of randomized controlled trials. The random effect estimate of recurrence was 10% (95% confidence interval [CI], 8.3-11.7). It was 9.3% (95% CI, 7.2-11.5) for complications and 7.7% (95% CI, 5.4-10.1) for residual tumor. CONCLUSION: The endoscopic treatment is an evolving modality. It is considered today the treatment of choice. A new classification system based on the endoscopic approach should be proposed in future studies.

T4a laryngeal cancer survival: retrospective institutional analysis and systematic review.

OBJECTIVES/HYPOTHESIS: To assess the survival outcomes of a homogeneous group of pT4a laryngeal cancer patients treated at our institution by primary total laryngectomy and neck dissection with adjuvant therapy when indicated, and to systematically review studies reporting overall survival outcomes in T4a laryngeal cancer. STUDY DESIGN: Systematic review of PubMed and Embase databases. METHODS: Records of 108 laryngeal cancer patients treated by total laryngectomy were reviewed. pT4a cases treated by primary total laryngectomy between 1998 and 2010 were included. Overall and disease-free survival at 2 and 5 years were reported. A systematic review was performed including all published studies reporting overall survival outcomes by treatment modality in T4 laryngeal cancer patients. RESULTS: Thirty cases met the inclusion criteria. At 2 years, overall and disease-free survival were 81.3% and 78%, respectively. The 5-year overall and disease-free survival rates were 60%. The systematic review retrieved 24 articles. Overall survival at 2 years ranged from 12% to 21.2% with radiotherapy, <30% to 65% with chemoradiotherapy, and from 30% to 100% with surgery. At 5 years, it ranged from 0% to 75% with radiotherapy, 16% to 50.4% with chemoradiotherapy, and 10% to 80.9% with surgery. CONCLUSIONS: Primary total laryngectomy provides a high survival rate for pT4a laryngeal cancer patients. Randomized controlled trials including homogenous patients are still needed before shifting to organ preservation protocols in these patients. LEVEL OF EVIDENCE: NA.

New trends in the management of head and neck cancers.

Head and neck cancers affect more than half million person a year worldwide. More than 40% have an advanced stage at diagnosis. The incidence in Lebanon according to the statistics of the Ministry of Public Health was 268 new cases in 2007. The tumors and their treatment modalities have an important impact on the quality of life because they influence communication, breathing and4 swallowing. Treatment modalities are evolving to more conservative approaches for better functional results without impeding survival. We present in this review the state of the art of the management of head and neck cancer in 2011 with emphasis on the most recent advances in the assessment, treatment and follow-up.

Management of postintubation tracheal stenosis: appropriate indications make outcome differences.

BACKGROUND: Laryngotracheal stenosis is difficult to treat and its etiologies are multiple; nowadays, the most common ones are postintubation or posttracheostomy stenoses. OBJECTIVE: To provide an algorithm for the management of postintubation laryngotracheal stenoses (PILTS) based on the experience of a tertiary care referral center. METHODS: A retrospective study was conducted on all patients treated for PILTS over a 10-year period. Patients were divided into a surgically and an endoscopically treated group according to predefined criteria. The characteristics of the two groups were analyzed and the outcomes compared. RESULTS: Thirty-three consecutive patients were included in the study: 14 in the surgically treated group and 19 in the endoscopically treated group. Our candidates for airway surgery were healthy patients presenting with complex tracheal stenoses, subglottic involvement or associated tracheomalacia. The endoscopic candidates were chronically ill patients presenting with simple, strictly tracheal stenoses not exceeding 4 cm in length. Stents were placed if the stenosis was associated with tracheomalacia or exceeded 2 cm in total length. In the surgically treated group, 2/14 patients needed more than one procedure versus 8/19 patients in the endoscopically treated group. At the end of the intervention, 50% of the patients were decannulated in the surgically treated group versus 84.2% in the endoscopically treated group (p = 0.03). However, the decannulation rates at 6 months and the symptomatology at rest and on exertion on the last follow-up visit were comparable in the two groups. CONCLUSION: Our experience in the management of PILTS demonstrates that both surgery and endoscopy yield excellent functional outcomes if the treatment strategy is based on clear, predefined objective criteria.

Lateral sinus thrombosis in the pediatric population: multiple presentations for a potentially lethal disease.

Lateral sinus thrombosis complicating head and neck infections is a rare but potentially life-threatening condition.We report 4 pediatric cases of lateral sinus thrombosis occurring in different settings (2 patients with acute otitis media, 1 patient with chronic otitis media, and another with acute tonsillitis) to emphasize the nonspecific clinical presentation of this complication. In all our cases, early diagnosis was missed.Keeping a high index of suspicion when dealing with these infections is a reasonable approach.

Bacterial flora in normal adult maxillary sinuses.

BACKGROUND: Conflicting data exist about the presence of bacteria in healthy maxillary sinus cavities. This study was designed to determine the bacterial flora and to quantify the level of bacterial presence in healthy maxillary sinus cavities. METHOD: Subjects included 34 patients undergoing Lefort I osteotomy for orthognathic surgery. All patients were preoperatively evaluated by a questionnaire and a complete physical examination including sinus endoscopy. Our exclusion criteria were presence of sinonasal symptoms, asthma, antibiotic treatment in the past 3 months, treatment with local steroids, previous sinonasal surgery, traumatic surgery, and an abnormal CT scan or sinus endoscopy. Washes were obtained from maxillary sinuses before surgery through an antral puncture. The sinus was irrigated with sterile saline followed by aspiration with a syringe attached to the trocar. Basic sterility rules were rigorously applied. Specimens were transported to the laboratory in an air-free syringe. Time between collection of materials and inoculation of the specimen did not exceed 15 minutes. Specimens were inoculated for aerobic and anaerobic organisms. RESULTS: After applying the selection criteria, 14 patients (28 sinuses) remained. Eight (57.1%) were men with a mean age of 22.7 years; 82.14% of the specimens were sterile. Bacterial organisms were recovered in only four patients with two different coagulase-negative staphylococci in the same patient: one in each sinus with 200 UFC/mL in the left sinus and 10 UFC/mL in the right sinus, one Citrobacter fundii (70 UFC/mL) and two polymorphic floras. CONCLUSION: This descriptive study shows the large predominance of sterile maxillary sinus cavities in asymptomatic adults with endoscopically normal mucosa.

Does diclofenac increase the risk of cervical necrotizing fasciitis in a rat model?

Non-steroidal anti-inflammatory drugs (NSAIDs) are known for aggravating in vitro infections and were reported in many cases of cervical necrotizing fasciitis (CNF). We developed a rat model of CNF, mimicking as closely as possible the human-CNF, to study the effect of a NSAIDs, diclofenac, as a promoting factor. Twenty rats were injected bilaterally in the neck with peptostreptococcus and with a fresh saliva specimen for another 20 rats. Half of each group was given an intramuscular injection of 4 mg/kg diclofenac at the time of inoculation and 24 h later, and the other half saline injections; rats were killed at day 7 and clinical, bacterial and histological studies were performed to assess the infectious process and the incidence of CNF. No statistically significant difference was found between groups treated with diclofenac vs. the saline injection groups. However a significant correlation was noted between clinical observation, bacterial density and histological signs of inflammation. CNF has a high mortality rate and the use of NSAIDs in conditions potentially leading to CNF is very common. However, our rat model does not support the hypothesis of a promoting role of diclofenac which was occasionally suggested in the medical literature. This study suggests that diclofenac does not seem to increase the risk of occurrence of CNF. Nonetheless, NSAIDs can mask inflammatory signs of an already spreading CNF.

Prognostic significance of EGFR, p53 and E-cadherin in mucoepidermoid cancer of the salivary glands: a retrospective case series.

OBJECTIVE: Evaluate the prognostic significance of EGFR, p53 and E-cadherin known, along with histopathologic criteria, in mucoepidermoid cancer (MEC) of the salivary glands. MATERIALS & METHODS: Retrospective case series review between January 1994 and December 2002 of all patients with salivary glands mucoepidermoid cancer treated at one university hospital. Histopathology review and immunohistochemistry study for EGFR, p53 and E-cadherin was undertaken on formalin-fixed, paraffin embedded surgical specimens. Clinicopathological parameters were reviewed and survival analysis was conducted to study the prognostic significance of these factors. SETTINGS: All patients were treated by the same multidisciplinary team which included three head and neck surgeons, one plastic surgeon, two medical oncologists and one radiation oncologist at Hôtel-Dieu de France, a tertiary care university hospital of Saint-Joseph University, Beirut-Lebanon. RESULTS: Thirteen patients were treated for MEC during this period. The parotid gland was the most common site. Mean survival in this series was 61 +/- 8 months (95% CI = 46-77 months). Positive lymph nodes status was a significant predictor of poor survival. EGFR and p53 were correlated to histological grade. EGFR tended also to be more elevated in major salivary gland tumors. CONCLUSION: EGFR and p53 expressions were highly correlated to high histological grade, making them an interesting target for further investigation as prognostic factors in MEC.