Neda Ahmadi

Cryopyrin-Associated Periodic Syndromes Otolaryngologic and Audiologic Manifestations

Objective. Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS. Study Design. Prospective (2003-2009). Setting. National Institutes of Health. Subjects and Methods. Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained. Results. Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively. Conclusion. CIAS1 pathway–mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.

Patterns of Cervical Lymph Node Metastases in Primary and Recurrent Papillary Thyroid Cancer

The incidence of thyroid cancer is rising in the United States with papillary thyroid cancer (PTC) being the most common type. We performed a retrospective study of 49 patients with PTC who underwent 57 lateral neck dissections (NDs). The extent of NDs varied, but 29 of 57 (51%) consisted of levels II–V. Twelve of 57 (21%) NDs consisted of levels I–V. Twelve of 57 (21%) NDs consisted of levels II–IV. One of 57 (1.8%) necks involved only levels I–IV. One of 57(1.8%) necks involved only levels I–V. One of 57(1.8%) necks involved only levels III–V. Two (3.5%) double-level (III–IV) neck surgeries were also performed. Metastatic PTC adenopathy was confirmed pathologically in 2%-level-I, 45%-level-II, 57%-level-III, 60%-level-IV, and 22%-level-V necks. Level-V was positive in 21% of primary and 24% of recurrent groups (P = 0.76). Comparing primary and recurrent disease, there was no difference in nodal distribution or frequency for levels I, II, III, and V. Level-IV was more common in the recurrent cases (P = 0.05). Based on the pathologic distribution of nodes, dissection should routinely include levels II–IV and extend to level-V in primary and recurrent cases. Our data does not suggest routine dissection of level-I.

Decreased Risk of Squamous Cell Carcinoma of the Head and Neck in Users of Nonsteroidal Anti-Inflammatory Drugs

We evaluated the chemopreventive effect of nonsteroidal anti-inflammatory drug (NSAID) use in head and neck squamous cell carcinomas (HNSCC) by conducting a case-control study based on the administration of a standardized questionnaire to 71 incident HNSCC cases and same number of healthy controls. NSAID use was associated with a 75% reduction in risk of developing HNSCC. A significant risk reduction was noted in association with frequency of NSAID use. Restricting the analysis to aspirin users revealed a significant 90% reduction in risk of developing HNSCC. This study provides evidence for a significant reduction in the risk of developing HNSCC in users of NSAIDs, and specifically aspirin users.

Facial nerve hemangioma: A rare case involving the vertical segment

This case report and literature review reports on a rare case of facial nerve hemangioma (FNH) involving the vertical facial nerve (FN) segment, and discusses the clinical presentation, imaging, pathogenesis, and management of these rare lesions. A 53‐year‐old male presented with a 10‐year history of right hemifacial twitching and progressive facial paresis (House‐Brackmann grading score V/VI). The computed tomography and magnetic resonance imaging studies confirmed an expansile lesion along the vertical FN segment. Excision and histopathologic examination demonstrated FNH. FNHs involving the vertical FN segment are extremely rare. Despite being rare lesions, we believe that familiarity with the presentation and management of FNHs are imperative. Laryngoscope, 2012

Melanocytic Nevi with Spitz Differentiation: Diagnosis and Management

Melanocytic proliferations with Spitz differentiation present a difficult clinicopathologic dilemma, as their spectrum ranges from benign to malignant. Distinct entities include Spitz nevus, atypical Spitz nevus, and Spitzoid melanoma. Their histopathologic differentiation can be challenging, and cases of Spitzoid melanoma initially diagnosed as benign Spitz nevi are reported in the literature. The goal of this article is to discuss the diagnostic tools (including comparative genomic hybridization), which may be helpful in differentiating benign Spitz nevi from malignant melanoma with Spitzoid features, and to propose an appropriate management strategy for each entity.

Costello Syndrome and the Importance of Cancer Screening

Costello syndrome is a rare congenital syndrome first described in 1971. 1 Since then, approximately 115 cases have been reported in the literature. 1 The syndrome presents with failure to thrive, developmental delay, and unique facial characteristics. These include macrocephaly, downward-slanted palpebral fissures, curly hair, low-set ears, depressed nasal bridge, large tongue, and hypertrophied gingiva. 2 Overall, these phenotypic features give rise to the characteristic coarse facial appearance.

Lateral Lymph Node Metastases in Papillary Thyroid Cancer

involvement. METHOD: A retrospective chart-review was completed for all patients diagnosed with scalp or forehead cutaneous scc at a single institution between 1999 and 2009. The diagnosis of scc was confirmed based on pathology reports. Intracranial and/or cavernous sinus involvement was confirmed based on biopsy or imaging. RESULTS: Five male patients with cutaneous scc of the scalp or forehead that developed intracranial metastases were identified. The median age at diagnosis was 68 (53 89) years. All patients were previously treatment for scc with wide local excision. The average tumor size at diagnosis was 4.9 cm. The mean time from initial diagnosis to intracranial extension was 5.4 months. The most common presenting symptoms were headache, pain, skin paresthesia and imbalance. Patients with cavernous sinus involvement presented with diplopia secondary to abducens nerve palsy. Mean survival time from diagnosis of intracranial involvement with and without cavernous sinus involvement was 3.5 and 9.7 months, respectively. The addition of radiation therapy did not influence disease free or overall survival. CONCLUSION: Cutaneous scalp and forehead scc are highly aggressive. Despite initial treatment with wide local excision and radiation therapy, local recurrence is common. Male gender, age greater than 50, tumor size greater than 2 cm, and moderate to poor or poor histologic differentiation are associated with increased risk of tumor recurrence and intracranial involvement.

Cryopyrin-Associated Periodic Syndromes ENT Manifestations

available ear-level protectors. RESULTS: All suppressors offered significantly greater noise reduction than ear level protection, usually more than 50% better. Noise reduction of all ear level protectors is unable to reduce the impulse pressure below 140 dB for certain common firearms, an international standard for prevention of sensorineural hearing loss. CONCLUSION: Modern muzzle level suppression is vastly superior to ear level protection and the only available form of suppression capable of making certain sporting arms safe for hearing. The inadequacy of standard ear protectors with certain common firearms is not recognized by most hearing professionals or their patients and should affect the way hearing professionals counsel patients and the public.