Doctor Google: Correlating internet search trends for epistaxis with metropolitan climates.

OBJECTIVE: Variation in weather patterns is often cited as a risk factor for epistaxis although robust studies investigating specific climate factors are lacking. As society is increasingly utilizing the Internet to learn more about their medical conditions, we explore whether Internet search activity related to epistaxis is influenced by fluctuations in climate. METHODS: Internet search activity for epistaxis-related search terms during 2012-2017 were extracted from Google Trends and localized to six highly populated cities in the US: New York, New York; Los Angeles, California; Chicago, Illinois; Houston, Texas; Philadelphia, Pennsylvania; and Atlanta, Georgia. Data were compared to local average monthly climate data from the National Centers for Environmental Information for the same time period. RESULTS: Spearmen correlations (r) were statistically strongest for dew point temperature (rNewYork = -0.82; rPhiladelphia = -0.74; rChicago = -0.65; rAtlanta = -0.49, rLosAngeles = -0.3). This was followed closely by relative humidity (rNewYork = -0.63; rPhiladelphia = -0.57; rLosAngeles = -0.44; rAtlanta = -0.42; rHouston = -0.40) and average temperature (rNewYork = -0.8; rPhiladelphia = -0.72; rChicago = -0.62; rAtlanta = -0.45). Overall, correlations were most significant and predictable for cities with the greatest seasonal climate shifts (New York, Philadelphia, and Chicago). The weakest environmental factor was barometric pressure, which was found to be moderately positive in Atlanta (rbarometric = 0.31), Philadelphia (rbarometric = 0.30) and New York (rbarometric = 0.27). CONCLUSIONS: Google Trends data for epistaxis-related search activity responds closely to climate patterns in most cities studied, thus underscoring the potential utility of Internet search activity data as a resource for epidemiologic study and for the identification of at risk populations.

A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.

Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.

Population-based trends in outcomes in adenoid cystic carcinoma of the oral cavity.

PURPOSE: Adenoid cystic carcinoma (ACC) is a rare malignant epithelial neoplasm of secretory glands of the upper aerodigestive tract. It accounts for 3-5% of head and neck malignancies and most commonly arises from the minor salivary glands of the oral cavity. The clinical behavior of ACC from specific anatomic subsites, including the oral cavity, is not well described in the literature. We aim to elucidate patient demographics, clinicopathologic features, incidence, and survival trends for oral cavity ACC (OCACC). METHODS: Retrospective population-based analysis of OCACC in the SEER database between 1973 and 2012. RESULTS: 1066 OCACC patients were identified, of which 57.7% were female (P<0.0001). Incidence was 0.049 per 100,000. Whites were most commonly affected (81.1%). The hard palate was the most commonly involved subsite (44.1%). Nodal involvement was seen in 8.4% of cases and distant metastasis was present in 6.2% of cases at the time of presentation. Disease-specific survival (DSS) rates at 1, 5, 10, 15, and 20years were 97.4%, 83.9%, 69.9%, 57.6%, and 46.2%, respectively. Females had a higher 5-year DSS (87.8%) than males (78.4%, P=0.0004). Cases treated with surgery had a favorable prognosis regardless of whether they received radiotherapy (P<0.0001). Nodal involvement reduced 5-year DSS by 51.6% (P<0.0001), while distant metastasis reduced 5-year DSS by 46.4% (P<0.0001). CONCLUSIONS: OCACC is a rare malignancy with females and whites being more commonly affected. At presentation, regional and distant metastases are uncommon. Poor prognostic indicators include male gender, nonsurgical therapy, nodal involvement, and distant metastasis.

A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.

The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in 3rd and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.

Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies.

New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10% of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb- 6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.

Dysfunctional personality beliefs and psychopathology in patients with central serous chorioretinopathy.

OBJECTIVES: To assess dysfunctional personality beliefs associated with specific personality disorders (PD), as well as psychopathological symptoms and psychological distress levels in central serous chorioretinopathy (CSC) patients. MATERIAL AND METHODS: This cross-sectional study included acute and chronic CSC patients and age- and sex-matched healthy volunteers. Dysfunctional personality beliefs and psychopathological symptoms assessed with Personality Belief Questionnaire-Short Form and Symptom Check List-90 Revised (SCL-90-R), respectively, were compared between CSC patients and healthy volunteers and between acute and chronic CSC patients. MAIN RESULTS: Of the 55 CSC patients included in the study analysis, 21 (38.2%) had acute and 34 (61.8%) chronic CSC. Avoidant PD (13.92±3.79 vs. 12.03±3.98, P=0.012) and obsessive-compulsive PD (13.94±3.95 vs. 12.27±3.75, P=0.025) scores on the PBQ-SF were significantly higher in CSC patients than in healthy volunteers. The PBQ-SF scores were similar between acute and chronic CSC patients. CSC patients scored significantly higher on the general severity index (GSI) and all symptom dimensions except phobic anxiety and psychoticism on the SCL-90-R. In addition, scores for obsessive-compulsive, depression, interpersonal sensitivity, paranoid ideation, and GSI were significantly higher in acute than in chronic CSC patients. CONCLUSIONS: This first study investigating the relationship between CSC and dysfunctional personality beliefs indicates that CSC patients have higher levels of dysfunctional beliefs related to avoidant and obsessive-compulsive PD than healthy volunteers. These findings present a new aspect of the personality profile of CSC patients and point to a target for intervention, i.e., dysfunctional beliefs, through a cognitive-psychiatric approach.

Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies.

Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.

Determination of fetal rhesus d status by maternal plasma DNA analysis.

In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample (case 12, whose blood group was found to be AB Rh [+]) was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false- positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.

A cardio-facio-cutaneous syndrome case with tight Achilles tendons.

Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.

Sinonasal Mucosal Melanoma: A Population-based Comparison of the EUROCARE and SEER Registries.

Introduction Sinonasal melanomas are rare tumors with no comparative survival studies between Europe and the US. Objective To provide a population-based survival analysis between the two continents. Methods The European Cancer Registry (EUROCARE) and the United States Surveillance, Epidemiology, and End Results (SEER) databases were queried to identify patients diagnosed with sinonasal melanoma between 2000 and 2007. Relative survival (RS) data were grouped by age, gender, geographic region, extent of disease, and treatment modality. Results A total of 1,294 cases were identified between 2000 and 2007 (935 from EUROCARE-5 and 359 from SEER). Females were most commonly identified in Europe (56.4%) and in the US (54.9%). Patients over the age of 65 years comprised the greatest proportion of patients in Europe (70%) and in the US (71%). By region, Southern Europe had the highest 5-year RS (31.6%, 95% confidence interval [CI] = [21.3-42.5%]), and Eastern Europe the lowest (16.5%, [7.5-28.5%]). The aggregate European 5-year RS was 25.4% [21.8-29.1%] and the U.S. was (29.7%, [23.6-36%]). Conclusions Although increasing in incidence, sinonasal melanomas remain rare. Women were more commonly affected. The most common age group was those older than 65 years, although age did not confer a prognostic value. The most common subsite was the nasal cavity followed by the maxillary sinus. Five-year RS was similar between continents with an inverse relationship between extent of disease and survival. The treatment of choice throughout Europe and the US remains primarily surgical.

Eosinophilic Mucin: A Predictor for Disease Severity in Chronic Rhinosinusitis.

OBJECTIVE: The presence of tissue eosinophilia is a determinate of disease severity in patients with chronic rhinosinusitis (CRS). The impact of eosinophilic mucin (EM) as an independent variable has not yet been elucidated. STUDY DESIGN: Retrospective review. SETTING: Tertiary academic clinic.Subjects Methods: CRS patients who failed medical therapy were classified by tissue eosinophilia, presence of polyps and EM. Tissue eosinophilia count per high power field (HPF) as well as the presence of EM were determined by pathologic examination of sinus tissue removed during surgery. Sinonasal Outcomes Test (SNOT-22), Lund-Mackay (LM), and Lund-Kennedy (LK) scores were compared between all groups preoperatively and postoperatively up to two and a half years (30 months). RESULTS: 192 patients with CRS were included in the study. 87 were diagnosed with eosinophilic CRS with polyps, 58 with eosinophilic CRS without polyps, 14 with noneosinophilic CRS with polyps, and 33 with noneosinophilic CRS without polyps. Only patients with eosinophilia had EM on pathology. Of eosinophilic CRS, 50% of patients with polyps and 12% of cases without polyps demonstrated EM, respectively. EM presence portended more severe disease in patients with eosinophilia on subjective and objective scores preoperatively (P < 0.005). Postoperatively, EM patients experienced a greater improvement of symptoms, but continued to have worse endoscopy scores until 1.5 years. A tissue eosinophil count of 30 or greater per HPF was identified as a potential marker for the development of EM. CONCLUSIONS: The presence of eosinophilic mucin predicts overall worse disease severity in patients with eosinophilic CRS.

Subjective and Objective Measurements of Sinonasal Manifestations in Patients With Autoimmune Disorders.

OBJECTIVES/HYPOTHESIS: A number of autoimmune disorders (ADs) are associated with a spectrum of sinonasal manifestations comparable to chronic rhinosinusitis (CRS). Our objective was to study the subjective and objective measurements of sinonasal manifestations of ADs. STUDY DESIGN: Retrospective cohort study. METHODS: All patients with ADs referred to our tertiary care rhinology clinic from 2008 to 2019 with sinonasal symptoms were compared to randomly selected cohorts of noneosinophilic CRS without nasal polyps (neCRSsNP) and eosinophilic CRSsNP (eCRSsNP). Demographic data, along with the 22-item Sino-Nasal Outcome Test (SNOT-22), Lund-Kennedy (LK) endoscopy score, Lund-Mackay (LM) computed tomography (CT) score, nasal crusting, and epistaxis were reviewed at presentation. RESULTS: Fifty-three patients with an AD (26 with sarcoidosis, 14 with systemic lupus erythematosus, 10 with granulomatosis with polyangiitis [GPA], and three with pemphigoid vulgaris) were identified, and compared to 75 randomly selected neCRSsNP patients and 75 eCRSsNP patients. Patients with an AD had an average SNOT-22 score of 44.4 (confidence interval [CI]: 34.6-51.2) compared to 25 (CI: 24.4-25.1) and 29.7 (CI: 20.3-29.7) for neCRSsNP and eCRSsNP patients, respectively (P < .0001), and an average LK endoscopy score of 5.3 (CI: 4.3-6.3), compared to 3.4 (P = .005, CI: 2.7-4) in neCRSsNP and 4.4 in eCRSsNP (P = .2, CI: 3.7-5). There was no significant difference in the CT score compared to both groups. Patients with an AD also scored significantly worse on all four SNOT-33 subdomains, nasal obstruction, nasal crusting, and epistaxis. Additionally, patients with GPA had the worst symptomatic and endoscopy scores. CONCLUSIONS: Patients with ADs presenting with sinonasal symptoms have a more severe subjective and objective presentation than patients with CRS without nasal polyps. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:255-259, 2021.

How Does Age Impact Presentation and Outcomes in Chronic Rhinosinusitis?

OBJECTIVES/HYPOTHESIS: The presence of eosinophilia and nasal polyps are well-established prognostic indicators of chronic rhinosinusitis (CRS). The importance of demographic background, such as age, as independent variables has not been elucidated while taking these factors into account. STUDY DESIGN: Respective review. METHODS: CRS patients who underwent primary surgical treatment were subdivided based on age (young adults = age 18-39, adults = age 40-64, and elderly = age 65+). Groups were then subdivided based on tissue eosinophilia and nasal polyposis. Sinonasal Outcome Test (SNOT-22), Lund-Kennedy (LK) endoscopy scores, and Lund-McKay (LM) CT scores were compared preoperatively, and postoperatively during a 5-year period. RESULTS: A total of 431 CRS patients identified and then subsequently broken down into 63 young adults (YA), 209 adults (A), and 159 elderly (E). There was no statistical difference between tissue eosinophilia and presence of polyps between the groups. All three groups had similar short- and long-term SNOT-22 patterns postoperatively. At presentation, young adults had significantly higher SNOT-22 score (33.2 YA, 25.3 A, 23.5 E, P = .029) and significantly higher rhinologic scores (1.9 YA, 1.3 A, 1.3 E, P = .0012) than the adult and elderly patients. Objective disease severity using LK endoscopy scores were only significantly higher in young adults at 1-year time (P = .0026). There was no statistical difference between the groups in regards to preoperative LM CT scores. CONCLUSIONS: Young adults are more likely to present with overall higher subjective SNOT-22 scores over adults and elderly patients, despite similar objective findings in the groups. Short- and long-term postoperative improvement holds across all age groups. LEVEL OF EVIDENCE: 4.

Use of mucosal eosinophil count as a guide in the management of chronic rhinosinusitis.

BACKGROUND: Chronic rhinosinusitis (CRS) is a local inflammatory process driven by eosinophils. Mucosal eosinophil count (MEC) has previously been demonstrated to be a reliable indicator of disease severity. We aim to evaluate use of MEC in guiding medical management of CRS after functional endoscopic sinus surgery (FESS). METHODS: We retrospectively reviewed patients with CRS who underwent FESS from 2004 to 2017. Tissue MEC per high-power field (HPF) was determined by pathologic examination. MECs were compared by polyp status, postoperative medication requirements, and revision surgery. Patients received normal saline (NS) nasal irrigations with additional treatment as needed for disease control: 1-drug therapy (1-DT) intranasal steroid spray (ISS), 2-drug therapy (2-DT) ISS plus budesonide nasal irrigations (BNI) or leukotriene receptor antagonist (LRA), or 3-drug therapy (3-DT) ISS plus BNI and LRA. Correlations between MEC and 22-item Sino-Nasal Outcome Test (SNOT-22), preoperative computed tomography (CT), and nasal endoscopy scores were evaluated. RESULTS: A total of 156 patients were included. Fifty-seven were managed with 1-DT, 35 with 2-DT, and 62 with 3-DT. Across all patients, mean postoperative 6-month and 1-year SNOT-22 (18.1 ± 17.0, 18.1 ± 20.2, respectively) and nasal endoscopy (3.6 ± 3.8, 3.6 ± 4.1, respectively) scores were significantly lower than preoperative scores (37.4 ± 22.8, 6.5 ± 4, respectively). With increasing MEC, odds of requiring 2-DT (odds ratio [OR] = 1.1, p = 0.0002), 3-DT (OR = 1.12, p < 0.0001), and revision surgery (OR = 1.11, p < 0.0001) were significantly increased. Preoperative endoscopy (ρ = 0.44, p < 0.0001) and CT scores (ρ = 0.51, p < 0.0001) and postoperative 6-month (ρ = 0.55, p < 0.0001) and 1-year (ρ = 0.4, p < 0.0001) endoscopy scores demonstrated good correlation with MEC. CONCLUSION: MEC correlates with objective clinical disease severity and may guide aggressiveness of management for the individual patient.

Salivary Gland Cancers of the Nasopharynx: A Population-Based Analysis of 383 Cases.

OBJECTIVES/HYPOTHESIS: Salivary gland nasopharynx cancers (SGNPCs) are rare malignancies with few cases discussed in the literature. This study represents the largest cohort of SGNPC to date. STUDY DESIGN: Retrospective population-based analysis. METHODS: The Surveillance, Epidemiology, and End Results registry from 1973 to 2015 was utilized to extract 383 cases of SGNPC. Data were analyzed for demographic characteristics, incidence, clinicopathologic traits, and outcome prognosticators. RESULTS: White female patients aged >40 years were most commonly affected. The incidence was measured as 0.019 per 100,000 people. The majority of tumors presented at advanced stages (stage III/IV, 60.8%). Adenoid cystic carcinoma, adenocarcinoma, and mucoepidermoid carcinoma were the most commonly encountered histologies (43.1%, 31.6%, 13.3%, respectively). Cervical node involvement and distant metastasis were measured at 23% and 11.9%, respectively. Mucoepidermoid carcinomas presented with the best disease-specific survival at 5 and 10 years. Asian ethnicity, age <80 years, and earlier American Joint Committee on Cancer stages were positive prognostic factors. The inclusion of surgical therapy improved 5-year outcomes among the most common histologies, except for mucoepidermoid carcinoma. CONCLUSIONS: Salivary gland nasopharyngeal cancer represents a group of rare histologies with similar outcomes as squamous cell carcinomas. However, prognosis is primarily dependent on histologic subtype, race, age, and American Joint Committee on Cancer stage.

Salivary Clear Cell Carcinoma Clinicopathologic Characteristics and Outcomes: A Population-Based Analysis.

BACKGROUND: Salivary clear cell carcinoma is an uncommon, low-grade malignancy for which limited data describing predictive clinicopathologic factors and treatment outcomes exist because of rarity. METHODS: The authors queried the Surveillance, Epidemiology, and End Results database from 1982 to 2014. Multivariate Cox and Kaplan-Meier analyses were performed to determine disease-specific survival (DSS) and predictive clinicopathologic factors. RESULTS: One hundred ninety-eight patients with salivary clear cell carcinoma were included. Overall incidence was 0.011 per 100 000 individuals, with no significant annual percentage change across years (-0.93%, P = .632). Five-, 10-, and 20-year DSS rates were 81.3% (n = 117), 69.6% (n = 94), and 55.3% (n = 68), respectively. Men (hazard ratio, 4.74; P = .0087) and patients with regional (hazard ratio, 5.59; P = .018) or distant (hazard ratio, 8.9; P = .01) metastases carried a worse prognosis. Five-year DSS was greater in patients with localized disease (96.36%, P < .0001) than those with regional or distant metastases. Treatment with surgery alone had better 10-year DSS (86.3%) compared with treatment with combination radiation and surgery (57.6%) or radiation monotherapy (18.75%, P < .0001). CONCLUSIONS: Salivary clear cell carcinoma carries an overall good prognosis. Patients with localized disease and those treated with surgery alone have more favorable prognoses. Male patients and those with regional or distant metastatic disease at time of presentation carry a worse prognosis. LEVEL OF EVIDENCE: N/A.

Basaloid nasopharyngeal carcinoma: A population-based analysis of a rare tumor.

OBJECTIVES: Basaloid nasopharyngeal carcinoma (BNPC) is an extremely rare malignancy with a paucity of cases reported in the literature. This analysis represents the largest cohort of BNPC to date. STUDY DESIGN: Retrospective population-based analysis. METHODS: The Surveillance, Epidemiology, and End Results registry from 2001 to 2015 was utilized to extract a total of 82 cases of BNPC. Data were analyzed for incidence trends, demographic, and tumor characteristics, as well as potential outcome prognosticators. RESULTS: White male patients between the ages of 40 to 79 years were most commonly affected. The incidence was measured at 0.06 per 100 thousand people. The majority of tumors were considered high grade (grade III/IV; 92.2%). At presentation, patients were most commonly advanced stage (American Joint Committee on Cancer [AJCC] stage IV) at 29.3%, followed by AJCC stages II and III (20.7%, respectively). T2 tumors were most common at 28.8%. Cervical node involvement and distant metastasis were measured at 53.7% and 10.4%, respectively. One-year, 5-year, and 10-year disease-specific survival was 87.7%, 60.7%, and 29.8%, respectively. No prognostic factors were identified in this study. CONCLUSION: Basaloid squamous cell carcinoma represents a histologic subtype of nasopharyngeal carcinoma with excellent short-term outcomes but poor survival at 10 years when compared to conventional squamous cell carcinomas. LEVEL OF EVIDENCE: NA Laryngoscope, 129:2727-2732, 2019.

An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

Current opinions in office-based rhinology.

PURPOSE OF REVIEW: The care of rhinologic patients has undergone a remarkable transformation in recent years. With the advent of endoscopic sinus surgery and high-tech image-guided computer systems, the surgical care of patients with benign sinonasal disease has successfully transitioned from the main hospital operating room to the outpatient ambulatory surgical center. Currently, there is yet another movement underway, in an attempt to care for these patients in the office setting. RECENT FINDINGS: As the medical device sector continues to innovate at rapid speed, new technologies such as the radiofrequency ablator, microdebrider, balloon sinus dilator, and steroid-eluting stent have propelled the care of rhinologic patients into the clinic setting. SUMMARY: In conjunction with an overall increased attention toward cost and time savings, the push to modernize instrumentation is now enabling the otolaryngologist to keep both the medical and surgical treatment of rhinologic patients, particularly those with chronic disease, within the office setting.