Παρασκευή 26 Μαΐου 2017
Spontaneous Union of an Accidentally Fractured Proximal Segment During Vertical Ramus Osteotomy.
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Traumatic Facial Myopericytoma: A Differential to Consider.
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A Modified Suction-Assisted Technique of Transfer of Diced Cartilage Graft to Carrier Material and Outcome of Direct Injection of Unwrapped Diced Cartilage in Rhinoplasty.
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Effect of Preoperative Molding Helmet in Patients With Sagittal Synostosis.
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Value of Osteoblast-Derived Exosomes in Bone Diseases.
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Anatomic evaluation of the retromolar canal by histologic and radiologic analyses
Source:Archives of Oral Biology, Volume 81
Author(s): Heung-Joong Kim, Hansoo Kang, Yo-Seob Seo, Do Kyung Kim, Sun-Kyoung Yu
ObjectivesThe aim of this study was to identify the detailed anatomic morphology of the retromolar canal using histologic sections and cone-beam computed tomography (CBCT) images.Materials and methodsTwenty-two sides of the mandible obtained from cadavers and CBCT images of 72 patients (144 sides) were analyzed. All mandibles were prepared using conventional methods of tissue processing, stained with hematoxylin-eosin, and measured to elucidate the composition and dimensions of the retromolar canal with the aid of a light microscope. In addition, the prevalence, course, opening position, and distance of the retromolar canal from the second molar were measured on CBCT images.ResultsThe retromolar neurovascular bundle in the retromolar canal originated from the inferior alveolar neurovascular bundle, and the mean areas of the neurovascular bundle and each artery and nerve contained within it were 0.59, 0.07, and 0.05mm2, respectively. The mean horizontal and vertical diameters of the neurovascular bundle were 0.82 and 0.90mm, respectively. The retromolar canal was detected more often on CBCT images (43.1%, 31 out of 72 patients). It mainly arose vertically (71.0%) from the mandibular canal and opened in the middle portion (57.9%) of the retromolar triangle at a mean distance of 13.13mm from the second molar.ConclusionsThe retromolar canal is a normal anatomic structure that is relatively common and contains both a relatively large artery and a nerve. Clinicians need to pay closer attention to vascular problems as well as nerve damage when they are performing surgical procedures in the retromolar area.
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Differences between the chewing and non-chewing sides of the mandibular first molars and condyles in the closing phase during chewing in normal subjects
Source:Archives of Oral Biology, Volume 81
Author(s): Hiroshi Tomonari, Sangho Kwon, Takaharu Kuninori, Shouichi Miyawaki
ObjectiveThis study aimed to assess differences between the closing paths of the chewing and non-chewing sides of mandibular first molars and condyles during natural mastication, using standardized model food in healthy subjects.DesignThirty-two healthy young adults (age: 19–25 years; 22 men, 10 women) with normal occlusion and function chewed on standardized gummy jelly. Using an optoelectric jaw-tracking system with six degrees of freedom, we recorded the path of the mandibular first molars and condyles on both sides for 10 strokes during unilateral chewing. Variables were compared between the chewing side and the non-chewing side of first molars and condyles on frontal, sagittal, and horizontal views during the early-, middle- and late-closing phases.ResultsOn superior/inferior displacements, the chewing side first molar and condyle were positioned superior to those on the non-chewing side during the early- and middle-closing phases. Conversely, the first molar and condyle on the non-chewing side were positioned significantly superior to those on the chewing side during the late-closing phase. On anterior/posterior displacements, the chewing side mandibular first molar and condyle were positioned significantly posterior to those on the non-chewing side throughout all closing phases.ConclusionOur results showed the differences between the mandibular first molars and condyles on both sides with respect to masticatory path during natural chewing of a model food. These differences can be useful for informing initial diagnostic tests for impaired masticatory function in the clinical environment.
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Ultrasonography-driven combination antibiotic therapy with tigecycline significantly increases survival among patients with neutropenic enterocolitis following cytarabine-containing chemotherapy for the remission induction of acute myeloid leukemia
Abstract
Neutropenic enterocolitis (NEC) is an abdominal infection reported primarily in patients with acute myeloid leukemia (AML) following chemotherapy, especially cytarabine, a notable efficacious cytotoxic agent for AML remission. Specific data regarding the impact of different cytarabine schedules and/or antibacterial regimens for NEC are sparse. The aim of the study was to identify the predictors of outcome within 30 days of NEC onset. NEC episodes were retrospectively pinpointed among 440 patients with newly diagnosed AML hospitalized in our Institution, over a 10-year period, for receiving chemotherapy protocols with 100–6000 mg/m2 daily of cytarabine. Two subgroups, survivors versus nonsurvivors, were compared by using logistic regression analysis. NEC was documented in 100 of 420 (23.8%) analyzed patients: 42.5% had received high-dose cytarabine, whereas 19% and 15% intermediate-dose and standard-dose cytarabine, respectively (P < 0.001). The 30-day NEC attributable mortality rate was 23%. In univariate analysis, antileukemic protocols containing robust dosages of cytarabine were significantly associated with high mortality (P < 0.001); whereas, standard-dose cytarabine and prompt initiation (at the ultrasonographic appearance of intestinal mural thickening) of NEC therapy with antibiotic combinations including tigecycline were significantly associated with low mortality. In multivariate analysis, high-dose cytarabine-containing chemotherapy was the independent predictor of poor outcome (odds ratio [OR]: 0.109; 95% confidence interval [CI]: 0.032–0.364; P < 0.001), whereas ultrasonography-driven NEC therapy with antibiotic regimens including tigecycline was associated with a favorable outcome (OR: 13.161; 95% CI: 1.587–109.17; P = 0.017). Chemotherapy schedules with robust dosages of cytarabine for AML remission are associated with a high rate of NEC incidence and attributable. Vigorous antibacterial therapy, triggered off pathologic ultrasonographic findings, with drug combinations which have broad antimicrobial coverage and good gut penetration, specifically those also including tigecycline, may be effective in improving 30-day survival rate after NEC onset.
Prompt ultrasonography-driven combination antibiotic therapy for NEC improved survival among acute myeloid leukemia (AML) patient. Chemotherapy schedules with robust dosages of cytarabine for AML remission are associated with a high rate of NEC incidence and attributable mortality. Vigorous antibacterial therapy, specifically those also including tigecycline, may be effective in improving 30-day survival rate after NEC onset. This text corresponds to the final part of the abstract and it doesn't represent the legend to this figure.
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Index report of cutaneous angiosarcoma with strong positivity for tyrosinase mimicking melanoma with further evaluation of melanocytic markers in a large angiosarcoma series
ABSTRACT
Cutaneous angiosarcoma can be challenging to diagnose particularly when poorly vasoformative and on biopsies. We report a case of a cutaneous angiosarcoma with strong positivity for tyrosinase, the first to our knowledge, initially misdiagnosed as melanoma. We subsequently evaluated the reactivity of panmelanocytic cocktail (tyrosinase, HMB-45 and melan-A), SOX10, tyrosinase and MITF in a large tissue microarray (TMA) of angiosarcoma. The TMA included 142 cases of angiosarcomas (29 cutaneous, 22 primary breast, 41 post-radiation breast, 15 visceral, 26 deep soft tissue and bone, 5 chronic lymphedema-associated, and 4 angiosarcomas arising in other sarcomas). Immunohistochemical studies were performed with anti-panmelanocytic cocktail, SOX10, anti-MITF and anti-tyrosinase antibodies. TMA staining results were scored on intensity and percentage of tumoral labeling. Aside from the index case, no cases (0/133) showed positivity for tyrosinase including 28 cutaneous angiosarcomas. One breast angiosarcoma (1/131) was positive for MITF. All cases were negative for SOX10 and panmelanocytic cocktail (0/132). Angiosarcomas can rarely be positive for tyrosinase and MITF. Pathologists should be cognizant of these rare exceptions to prevent confusion for melanoma. Additional immunohistochemical markers for vascular and melanocytic differentiation, thorough histological examination for vasoformative and in-situ areas as well as clinical impression are helpful in these exceptionally problematic cases.
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Using two detectors concurrently to monitor ambient dose equivalent rates in vehicle surveys of radiocesium contaminated land
Source:Journal of Environmental Radioactivity, Volume 177
Author(s): Minoru Takeishi, Masaru Shibamichi, Alex Malins, Hiroshi Kurikami, Mitsuhiro Murakami, Jun Saegusa, Masayuki Yoneya
In response to the accident at Tokyo Electric Power Company's Fukushima Dai-ichi Nuclear Power Plant (FDNPP), vehicle-borne monitoring was used to map radiation levels for radiological protection of the public. By convention measurements from vehicle-borne surveys are converted to the ambient dose equivalent rate at 1 m height in the absence of the vehicle. This allows for comparison with results from other types of survey, including surveys with hand-held or airborne instruments. To improve the accuracy of the converted results from vehicle-borne surveys, we investigated combining measurements from two detectors mounted on the vehicle at different heights above the ground. A dual-detector setup was added to a JAEA monitoring car and compared against hand-held survey meter measurements in Fukushima Prefecture. The results obtained by combining measurements from two detectors were within ±20% of the hand-held reference measurements. The mean absolute percentage deviation from the reference measurements was 7.2%. The combined results from the two detectors were more accurate than those from either the roof-mounted detector, or the detector inside the vehicle, taken alone. One issue with vehicle-borne surveys is that ambient dose equivalent rates above roads are not necessarily representative of adjacent areas. This is because radiocesium is often deficient on asphalt surfaces, as it is easily scrubbed off by rain, wind and vehicle tires. To tackle this issue, we investigated mounting heights for vehicle-borne detectors using Monte Carlo gamma-ray simulations. When radiocesium is deficient on a road compared to the adjacent land, mounting detectors high on vehicles yields results closer to the values adjacent to the road. The ratio of ambient dose equivalent rates reported by detectors mounted at different heights in a dual-detector setup indicates whether radiocesium is deficient on the road compared to the adjacent land.
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Inversion analysis on vertical radiocesium distribution in pond sediment from γ-ray count measurement
Source:Journal of Environmental Radioactivity, Volumes 175–176
Author(s): Hiroshi Ogawa, Kimitaka Minami, Tohru Kawamoto, Ramon Kanai, Kohei Ishikawa, Ryuichi Kamimura
Evaluation of vertical distribution of radiocesium in bottom sediment by measuring vertical γ-ray count profile was discussed. A stable inversion formula was derived based on the maximum entropy method. Efficiency of the formula was confirmed by using a low-cost apparatus composed of an array of PIN photodiodes and a single board computer with real-time inversion code. In-door experiment by using five model sediment disks showed good reproducibility of vertical radiocesium profile. On-site experiment was also carried out at a pond in Fukushima to confirm the efficiency. It was suggested that combination of the simple apparatus and MEM inversion formula gave reasonable estimates on vertical radiocesium distribution in bottom sediment of 1 kBq/kg-wet level within about 10 min.
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Trends in Surgical Research in Head and Neck Cancer
Opinion statement
The task of surgical research is to improve the efficacy of available surgical therapeutic modalities, develop new ones, and balance this well with favorable functional outcome. Therefore, surgical research is composed of a translational and a clinical component. In translational surgical research, animal models are used to better understand the biology of head and neck cancers, but even more importantly, the biology of changes to the disease and the microenvironment created by surgical interventions. Animal models additionally allow for the development of image-guided surgery systems, novel strategies of intraoperative adjuvant treatment, and patient “avatars” to test innovative anticancer drug combinations. In clinical surgical research, surgical techniques are validated in clinical trials for effectiveness of tumor control and improvement of functional recovery of the patient. In conclusion, surgical research for head and neck cancer is an active field spanning across the entire breadth of basic and clinical science devoted to a better understanding of what surgery does to the disease and to the patient.
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Review Article: Retropharyngeal Abscess—Mimickers and Masqueraders
Abstract
To discuss a case of suspected retropharyngeal abscess having important clinical and academic significance. This paper discusses an unusual presentation and evolution of a well known condition such as retropharyngeal abscess. Though the diagnosis in this case was initially a retropharyngeal abscess, several unusual findings were evident, which interfered with the optimal management of the patient. A literature review revealed rare causes and lesions mimicking a retropharyngeal abscess, such as retropharyngeal calcific tendinitis and Kawasaki disease, which are neither familiar to otolaryngologists nor other specialists such as orthopedicians. It is possible that this patient was both over treated and undertreated at the same time. Though the diagnosis in this case could not be established with certainty, several important pieces of information came up, especially unusual causes of retropharyngeal abscess and management of the same. Retropharyngeal abscess is a well-known condition with established modes of management. However, certain variations may occur and may pose challenges in diagnosis and management. These variations are little known and need to be highlighted so that optimal management is ensured.
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Invasive Fungal Infection in Acute Myeloid Leukemia Associated with Myeloid Sarcoma of the Sinonasal Cavity: A Rare Case
Abstract
Myeloid sarcoma is a rare malignant extramedullary neoplasm of myeloid precursor cells. The majority of these cases occur in patients with known leukemia or those who eventually develop the disease. It can occur in various sites but sinonasal cavity involvement along with invasive fungal infection is exceedingly rare.
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Tumor containing fragment number influences immunohistochemistry positive rate of HER2 in biopsy specimens of gastric cancer
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Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review
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Association of TP53 codon 72 and CDH1 genetic polymorphisms with colorectal cancer risk in Bangladeshi population
Source:Cancer Epidemiology, Volume 49
Author(s): Sanzana Fareen Rivu, Mohd Nazmul Hasan Apu, Samia Shabnaz, Noor Ahmed Nahid, Md. Reazul Islam, Mir Md. Abdullah Al-Mamun, Zabun Nahar, Sikder Nahidul Islam Rabbi, Maizbha Uddin Ahmed, Mohammad Safiqul Islam, Abul Hasnat
Till now no pharmacogenetic study of TP53 codon 72 (Arg72Pro) and CDH1 rs16260 (-160C<A) genes has been reported on Bangladeshi population relating those with colorectal cancer. So the aim of the study is to determine whether there is an elevated risk of colorectal cancer development with TP53 codon 72 and CDH1 rs16260 genetic polymorphism in Bangladeshi population for the first time. To investigate the association of these two SNPs, we conducted a case-control study with 288 colorectal cancer patients and 295 healthy volunteers by using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. We found an increased risk of association between Arg/Pro heterozygosity (adjusted OR=2.58, 95% CI=1.77–3.77, p<0.05) and Pro/Pro mutant homozygosity (adjusted OR=2.92, 95% CI=1.78–4.78, p<0.05) along with the combined genotype (Arg/Pro+Pro/Pro) (adjusted OR=2.70, 95% CI=1.90–3.82, p<0.05) and colorectal cancer predisposition. In case of CDH1 rs16260 polymorphism, C/A heterozygous and A/A mutant homozygous are significantly (p<0.05) found to be associated with colorectal cancer risk with adjusted OR of 1.94 and 2.63, respectively. The combined genotype of C/A and A/A was also found to be strongly associated with colorectal cancer risk compared to C/C genotype (adjusted OR=2.02, 95% CI=1.42–2.87, p<0.05). In conclusion, heterozygosity and mutant homozygosity as well as the combination of both TP53 Arg72Pro and CDH1 rs16260 polymorphisms are responsible to increase the risk of colorectal cancer development in Bangladeshi population.
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Phase I study of glasdegib (PF-04449913), an oral smoothened inhibitor, in Japanese patients with select hematologic malignancies
Summary
The hedgehog signaling pathway regulates multiple morphogenetic processes during embryogenesis. Aberrant activation of the hedgehog pathway signal transduction in adult tissues is associated with the pathogenesis of hematologic malignancies and solid tumors. We report findings from an open-label, multicenter phase I trial of the selective, small-molecule hedgehog signaling inhibitor glasdegib (PF-04449913) in Japanese patients with select advanced hematologic malignancies. Glasdegib was administered as once-daily oral doses (25, 50, and 100 mg) in 28-day cycles after a lead-in dose on Day –5. The primary objectives were to determine first-cycle dose-limiting toxicities, safety, vital signs, and laboratory test abnormalities. Secondary objectives included evaluation of pharmacokinetics, pharmacodynamics, and preliminary evidence of clinical activity of glasdegib. No dose-limiting toxicities were noted in the 13 patients in this study. All patients experienced at least one treatment-emergent, all-causality adverse event. The most frequent treatment-related adverse events (observed in ≥3 patients) were dysgeusia (n=9), muscle spasms (n=5), alopecia, decreased appetite (n=4 each), and increased blood creatinine phosphokinase, constipation, and diarrhea (n=3 each). Two deaths occurred during the study and were deemed not to be treatment-related due to disease progression. Glasdegib demonstrated dose-proportional pharmacokinetics, marked downregulation of the glioma-associated transcriptional regulator GLI1 expression in normal skin, and evidence of preliminary clinical activity, although data are limited. Glasdegib was safe and well tolerated across the dose levels tested. It is confirmed that the 100-mg dose is safe and tolerable in Japanese patients, and this dose level will be examined in the future clinical trial.
This article is protected by copyright. All rights reserved.
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The Perception of Formant Tuning in Soprano Voices
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Contact Quotient of Female Singers Singing Four Pitches for Five Vowels in Normal and Pressed Phonations
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Clinical implications of c-maf expression in plasma cells from patients with multiple myeloma
Abstract
Background
Multiple myeloma (MM) is a type of hematological malignancy with significant heterogeneity in clinical features and prognosis. Cytogenetic abnormalities are the major factors affecting patient outcomes. Studies have shown that immunohistochemistry (IHC)-based detection of cancer-related genes expression could be alternative indicators for the prognosis of MM.
Methods
Nuclear expression of c-maf protein in the bone marrow plasma cells of 128 multiple myeloma patients were examined by IHC, and its association with the clinicopathological features of MM patients was analyzed as well.
Results
Among the 128 patients, the positive rate of c-maf protein expression was up to 30.5%, which had no correlation with patient age, M protein type, Durie-Salmon staging system, the International Staging System, abnormal plasma cell ratio in the bone marrow, or the level of peripheral blood hemoglobin, serum calcium or lactate dehydrogenase. However, the c-maf-positive patients had a significantly higher rate of hypoproteinemia (p = 0.026) and higher serum β2-microglobulin levels (>2500 μg/L) (p = 0.007). Patients with negative c-maf expression had higher remission rates upon the treatment of non-bortezomib-based regimens although no effect of c-maf expression on progression-free survival or overall survival was observed.
Conclusion
Patients with negative c-maf expression had higher remission rates upon the treatment of non-bortezomib-based regimens although no effect of c-maf expression on survival was observed. A further large-scale prospective study is required to verify these findings.
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Dynamic arm study: quantitative description of upper extremity function and activity of boys and men with duchenne muscular dystrophy
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Association of of IgE Can f 2 and dyspnea in pet allergic patients
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Duration and exclusiveness of breastfeeding and school-age lung function and asthma
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Effect of Prior Injury on Changes to Biceps Femoris Architecture Across an AFL Season.
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Dynamic arm study: quantitative description of upper extremity function and activity of boys and men with duchenne muscular dystrophy
Therapeutic management of upper extremity (UE) function of boys and men with Duchenne Muscular Dystrophy (DMD) requires sensitive and objective assessment. Therefore, we aimed to measure physiologic UE functio...
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Effect of Prior Injury on Changes to Biceps Femoris Architecture Across an AFL Season.
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Acute otitis media in children: a vaccine‐preventable disease?
Braz J Otorhinolaryngol 2017;83:241-2
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Diagnostic value of repeated Dix‐Hallpike and roll maneuvers in benign paroxysmal positional vertigo
Braz J Otorhinolaryngol 2017;83:243-8
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Sound generator associated with the counseling in the treatment of tinnitus: evaluation of the effectiveness
Braz J Otorhinolaryngol 2017;83:249-55
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Difficult septal deviation cases: open or closed technique?
Braz J Otorhinolaryngol 2017;83:256-60
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The role of facial canal diameter in the pathogenesis and grade of Bell's palsy: a study by high resolution computed tomography
Braz J Otorhinolaryngol 2017;83:261-8
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Thyroid gland invasion in advanced squamous cell carcinoma of the larynx and hypopharynx
Braz J Otorhinolaryngol 2017;83:269-75
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Comparison of microRNA profiles between benign and malignant salivary gland tumors in tissue, blood and saliva samples: a prospective, case‐control study
Braz J Otorhinolaryngol 2017;83:276-84
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Obstructive sleep apnea in postmenopausal women: a comparative study using drug induced sleep endoscopy
Braz J Otorhinolaryngol 2017;83:285-91
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Pulmonary hypertension evaluation by Doppler echocardiogram in children and adolescents with mouth breathing syndrome
Braz J Otorhinolaryngol 2017;83:292-8
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Airway reconstruction: review of an approach to the advanced‐stage laryngotracheal stenosis
Braz J Otorhinolaryngol 2017;83:299-312
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LS CE‐Chirp® vs. Click in the neuroaudiological diagnosis by ABR
Braz J Otorhinolaryngol 2017;83:313-7
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Ophthalmic complications of endoscopic sinus surgery
Braz J Otorhinolaryngol 2017;83:318-23
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Role of cervical vestibular evoked myogenic potentials (cVEMP) and auditory brainstem response (ABR) in the evaluation of vestibular schwannoma
Braz J Otorhinolaryngol 2017;83:324-9
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Combined ocular and cervical vestibular evoked myogenic potential in individuals with vestibular hyporeflexia and in patients with Ménière's disease
Braz J Otorhinolaryngol 2017;83:330-40
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Deep neck abscesses: study of 101 cases
Braz J Otorhinolaryngol 2017;83:341-8
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Postoperative otorhinolaryngologic complications in transnasal endoscopic surgery to access the skull base
Braz J Otorhinolaryngol 2017;83:349-55
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Relation between chronic rhinosinusitis and gastroesophageal reflux in adults: systematic review
Braz J Otorhinolaryngol 2017;83:356-63
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First branchial cleft fistula: a difficult challenge
Braz J Otorhinolaryngol 2017;83:364-6
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Vertebral artery dissection: an important differential diagnosis of vertigo
Braz J Otorhinolaryngol 2017;83:367-9
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Ethics is the best professional policy
Braz J Otorhinolaryngol 2017;83:370
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Distant skeletal muscle metastasis to sternocleidomastoid in the setting of recurrent papillary thyroid carcinoma
Thyroid Research and Practice 2017 14(2):77-80
Papillary thyroid carcinoma (PTC), the most common form of differentiated thyroid cancer, is characterized by an indolent course and excellent prognosis. Although its spread to regional lymph nodes is well known, distant metastases are seen only in a minority of patients with lungs being the most common site. Skeletal muscle metastases are extremely rare even in follicular thyroid carcinoma, in which hematogenous spread is known to occur. We describe a case of skeletal muscle metastasis to sternocleidomastoid muscle in a case of PTC in the setting of local recurrence.
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Clinical approach to congenital hypothyroidism
Thyroid Research and Practice 2017 14(2):45-53
Congenital hypothyroidism (CH) is a preventable cause of mental retardation. The principal causes include thyroid dysgenesis and dyshormonogenesis. Central CH is rare. Due to absence of overt symptoms at birth, diagnosis is often delayed. There are some known syndromic associations with extrathyroidal anomalies. Neonatal screening programs help in early detection and categorization of cases requiring immediate treatment or close follow-up. Results of screening tests could guide further tests required for confirmation diagnosis and urgency of replacement therapy. A diagnostic protocol starting with an ultrasonography of thyroid and serum thyroglobulin levels can aid identify the probable underlying etiology and dictate the cases requiring scintigraphy or genetic tests. Early initiation of treatment with oral levothyroxine improves neurocognitive outcomes. Some cases might have transient hypothyroidism and reevaluation at 3 years of age may help in further discontinuation of treatment.
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The kidney and the thyroid – Together in function and disease
Thyroid Research and Practice 2017 14(2):43-44
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National health programs related to thyroid
Thyroid Research and Practice 2017 14(2):54-57
Identification of health objectives is one of the more visible strategies to direct the activities of the health sector. The government of India and its nodal ministry – Ministry of Health and Family Welfare undoubtedly has the central and primary role in the implementation of the health program. In this article, the authors have tried to review the available national programs for prevention and treatment of thyroid diseases; National Newborn Screening Programme including congenital hypothyroidism, Rashtriya Bal Swasthya Karyakram, National Guidelines for Screening of Hypothyroidism during Pregnancy, National Iodine Deficiency Disorders Control Programme and National Family Health Survey 3 and 4.
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A rare presentation of autoimmune thyroid disease in mother and neonate postpartum
Thyroid Research and Practice 2017 14(2):86-88
This is a case of long-standing hypothyroidism on levothyroxine (LT4) replacement developing Graves' disease postpartum and the newborn presenting with transient congenital hypothyroidism. The clinical and laboratory data of the case are reported along with a brief literature review. A 27-year-old female who has hypothyroidism for the past 3 years and gestational diabetes mellitus delivered uneventfully. The thyroid function tests (TFTs) of the newborn showed congenital hypothyroidism which was transient and resolved by 3 months' age. An ultrasound of thyroid showed gland in situ. The diagnosis of the newborn is transient congenital hypothyroidism probably due to thyroid-stimulating hormone receptor-blocking antibodies (TBAbs). The mother who has hypothyroidism for the past 3 years was stable with euthyroidism and was on LT4 100 ug daily. Seven months postpartum, she had lid lag and proptosis of her left eye. Her TFTs revealed thyrotoxicosis and was advised to stop LT4. Magnetic resonance imaging orbits were normal and her TBAbs are elevated at 4.65 IU/L (<1.22). Antimicrosomal antibodies and antithyroid peroxidase antibodies were negative. The orbitopathy resolved over 6 weeks and the mother remains euthyroid without LT4 on a follow-up period of 8 months. Close monitoring of autoimmune thyroid disease (AITD) in pregnancy and postpartum is necessary due to the immune switching in this period and may obviate the need for LT4 therapy. The suspicion of transient congenital hypothyroidism due to TBAb should be high in neonates born to mothers with AITD.
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Thyroid dysfunction in critically ill patients in a tertiary care hospital in Sikkim, India
Thyroid Research and Practice 2017 14(2):58-62
Background: During critical illness, patients with no history of thyroid disorders may experience multiple changes in their thyroid hormone levels. Such changes are termed as euthyroid sick syndrome. The extent of change correlates with the severity of the illness and its outcomes in critically ill patients. Objectives: The aim of this study was to identify critically ill patients and grade them clinically according to the Acute Physiology and Chronic Health Evaluation II (APACHE II) severity scale and evaluate the thyroid function tests (TFTs) and to document the outcome and relate the APACHE II severity scale with TFTs. Methods: A descriptive, observational hospital-based study was conducted on critically ill patients admitted to the Intensive Care Unit who fulfilled the inclusion criteria. All data were entered into Microsoft Excel sheet and were analyzed using GraphPad InStat software. Results: The majority of the patients belonged to geriatric age group (49%) and were male (55%). Cardiovascular diseases (43%) constituted the major morbidity. The majority had APACHE II score ≥20 (71%) and succumbed (45%) to their illness within 10 days. The majority of them had a low total triiodothyronine (T3) (49%), and there was a significant inverse correlation (P = 0.0235) between severity of illness and low serum total T3 levels whereas there was no relationship between total thyroxine or thyroid-stimulating hormone levels and severity of illness. Conclusions: Serum T3 has a significant inverse relationship to the severity of critically ill patients.
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Transoral thyroidectomy, vestibular approach using two ports: A novel technique
Thyroid Research and Practice 2017 14(2):75-76
Cosmesis is a prime concern for many patients undergoing thyroid surgery. Postthyroidectomy scar-related apprehension among patients has forced the surgeons to develop techniques to reduce the scar or even without scar. We report a case of a young female with thyroid nodule who underwent transoral endoscopic thyroidectomy done through a novel technique (transoral vestibular approach using two ports) at our center as potentially scarless thyroid surgery.
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Prevalence of hypothyroidism in Assam: A clinic-based observational study
Thyroid Research and Practice 2017 14(2):63-70
Introduction: Hypothyroidism is a common functional disorder of the thyroid gland. Despite extensive research, data on this subject are lacking from the northeastern part of India, which falls in the Sub-Himalayan goitrogenic belt. Therefore, we decided to study the profile of hypothyroidism in Assam, a northeastern state with the following objectives: to determine the prevalence of hypothyroidism and to describe the various modes of clinical presentation. Materials and Methods: The study was conducted at a clinic-cum-radioimmunoassay laboratory in Guwahati, Assam, from January to November 2011. Two thousand and four hundred fifty-six patients referred to our center from different parts of Assam were evaluated clinically and their thyroid profile was estimated. Antithyroid peroxidase (TPO) antibody was estimated in 1950 patients. Results: The prevalence of overt hypothyroidism was 10.9% (n = 267) and that of subclinical hypothyroidism was 13.1% (n = 321). Male:female ratio was 1:3. Among the cases of overt hypothyroidism, 247 (92.51%) were adult hypothyroids, 15 (5.62%) juvenile hypothyroids, and 5 (1.87%) cretins. The common presenting features of hypothyroidism were weakness (98%), lethargy (95%), dry and coarse skin (87%), and body ache (85%). Uncommon modes of presentation were pleural and pericardial effusion, low body weight, frequent motions, and palpitations. Postthyroidectomy and drug-induced hypothyroidism accounted for 2.38% cases each and postpartum hypothyroidism for 3.74% cases. Thirteen percent cases presented with goiter. The prevalence of anti-TPO antibody in the study population was 8.41%. Conclusion: Hypothyroidsm is no longer a rarity, and Assam is no exception to this phenomenon. A population-based epidemiological study of thyroid disorders in Northeast India is an urgent need.
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Primary hypothyroidism presenting as a pituitary macroadenoma and precocious puberty
Thyroid Research and Practice 2017 14(2):81-85
The association in young females of long-standing primary hypothyroidism, isosexual precocious pseudopuberty, and multicystic enlarged ovaries was first described in 1960 by Van Wyk and Grumbach. In this case study, we report a girl with precocious puberty, poor linear growth, decreased vision, and a large pituitary pseudotumor due to long-standing hypothyroidism with regression of all components following thyroxine (T4) supplementation. This girl aged 12 years and 3 months presented in Endocrinology Department with complaints of early menarche starting at the age of 8 years with normal cycles along with early progressive breast development starting almost simultaneously. On examination, she had a reduced growth for age (<5th centile) with adequate breast development (Tanner Stage 3) but no pubic or axillary hair development. Physical and biochemical examination for blood indices revealed a microcytic hypochromic anemia. Most importantly, she had an elevated thyroid stimulating hormone >150 μIU/ml (0.35–5.5) and a free T4 (FT4) and free triiodothyronine below normal limits suggestive of primary hypothyroidism. Furthermore, serum prolactin levels were elevated along with an elevated serum follicle-stimulating hormone, luteinizing hormone, and estradiol. Multicystic ovaries and a bulky uterus on ultrasound were suggestive of precocious puberty. Magnetic resonance imaging scan of the sella turcica was suggestive of a pituitary macroadenoma. Posttreatment with gluten-free diet, iron supplements, and T4 replacement, her thyroid function, hemoglobin, and prolactin normalized along with a regression in the size of the ovary. Therefore, in patients of this age presenting with a pituitary macroadenoma, anemia, precocious puberty, and primary hypothyroidism, medical management was preferred over neurosurgical intervention so as to avoid permanent hypopituitarism and lifelong hormone replacement therapy.
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Clinicopathologic profile of glomerular diseases associated with autoimmune thyroiditis
Thyroid Research and Practice 2017 14(2):71-74
Introduction: Thyroid hormones are known to influence renal function, development, and renal hemodynamics. In this study, we aimed to de ne the frequency and characteristics of various glomerular diseases associated with autoimmune thyroiditis. Methods: We reviewed retrospectively 36 patients with autoimmune thyroiditis referred for evaluation of proteinuria, hematuria, and/or renal impairment. Renal biopsy was performed in 32 patients and was examined with light microscopy and immunofluorescence. Six months follow-up data of 22 patients was reviewed. Results: The mean age of study population was 43.6 years. Most of them were females (n = 28). Mean duration of hypothyroidism (HT) was 1.5 years. Hypertension was seen in 16 patients and deranged renal function (estimated glomerular filtration rate <60 ml/min/1.73 m2) in 18 with a mean serum creatinine of 1.28 mg/dl at time of biopsy. 10 patients presented with nephrotic syndrome, 33 presented with isolated proteinuria and 22 presented with hematuria with or without significant proteinuria The most common histopathologic finding was membranous nephropathy (MGN) (n = 16), followed by minimal-change nephropathy (n = 5), focal segmental glomerulosclerosis (n = 5), immunoglobulin A nephropathy (n = 3), amyloidosis (n = 2), and membranoproliferative glomerulonephritis (n = 1). Membranous nephropathy was the most common finding inn patients with the nephrotic syndrome. Conclusion: Glomerular pathologies associated with HT are diverse and similar to those found in the general population; therefore, renal biopsy should be performed in cases with progressive renal failure or urinary abnormalities.
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Hashimoto's encephalopathy in a 10-year-old girl
Thyroid Research and Practice 2017 14(2):89-91
Hashimoto's encephalopathy (HE) is a rare but probably an unrecognized and underdiagnosed condition in children. Early diagnosis is critical since these patients respond dramatically to corticosteroid therapy. The diagnosis of HE requires a strong clinical suspicion along with a triad of positive antithyroid antibodies, encephalopathy not explained by another etiology, and a response to corticosteroids. We report the case of a 10-year-old female child with HE and review the literature.
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The Genetic Architecture of Ovariole Number in Drosophila melanogaster: Genes with Major, Quantitative, and Pleiotropic Effects
Ovariole number has a direct role in the number of eggs produced by an insect, suggesting that it is a key morphological fitness trait. Many studies have documented the variability of ovariole number and its relationship to other fitness and life-history traits in natural populations of Drosophila. However, the genes contributing to this variability are largely unknown. Here we conducted a genome-wide association study of ovariole number in a natural population of flies. Using mutations and RNAi-mediated knockdown, we confirmed the effects of twenty-four candidate genes on ovariole number, including a novel gene, anneboleyn (formerly CG32000), that impacts both ovariole morphology and numbers of offspring produced. We also identified pleiotropic genes between ovariole number traits and sleep and activity behavior. While few polymorphisms overlapped between sleep parameters and ovariole number, thirty-nine candidate genes were nevertheless in common. We verified the effects of seven genes on both ovariole number and sleep: bin3, blot, CG42389, kirre, slim, VAChT, and zfh1. Linkage disequilibrium among the polymorphisms in these common genes was low, suggesting that these polymorphisms may evolve independently.
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Sodium intake and multiple sclerosis activity and progression in BENEFIT
Abstract
Objective: To assess whether a high-salt diet, as measured by urinary sodium concentration, is associated with faster conversion from clinically isolated syndrome (CIS) to multiple sclerosis (MS) and MS activity and disability.
Methods: BENEFIT was a randomized clinical trial comparing early versus delayed interferon beta-1b treatment in 465 patients with a CIS. Each patient provided a median of 14 (IQR: 13 to 16) spot urine samples throughout the 5-year follow-up. We estimated 24-hour urine sodium excretion level at each time point using the Tanaka equations, and assessed whether sodium levels estimated from the cumulative average of the repeated measures were associated with clinical (conversion to MS, EDSS) and magnetic resonance imaging (MRI) outcomes.
Results: Average 24-hour urine sodium levels were not associated with conversion to clinically-definite MS over the 5-year follow-up (hazard ratio [HR]=0.91; 95% CI: 0.67-1.24 per 1g increase in estimated daily sodium intake); nor were they associated with clinical or MRI outcomes (new active lesions after 6 months HR: 1.05; 95% CI 0.97-1.13; relative change in T2 lesion volume: -0.11; 95% CI -0.25-0.04; change in EDSS: -0.01; 95% CI: -0.09-0.08; relapse rate HR: 0.78; 95% CI: 0.56-1.07). Results were similar in categorical analyses using quintiles.
Interpretation: Our results, based on multiple assessments of urine sodium excretion over 5 years and standardized clinical and MRI follow-up, suggest that salt intake does not influence MS disease course or activity. This article is protected by copyright. All rights reserved.
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A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome
Abstract
GLUT1 deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders due to other genetic defects and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients, 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder or epilepsy. This article is protected by copyright. All rights reserved.
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Decreased plasma β-amyloid in the Alzheimer's disease APP A673T variant carriers
Abstract
We investigated the association of Alzheimer's disease-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men. Carriers of protective APP A673T variant had on average 28% lower levels of Aβ40 and Aβ42 in plasma as compared to the controls and the carriers of ABCA7 rs200538373-C. This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout the life may be protective against Alzheimer's disease. This article is protected by copyright. All rights reserved.
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The genetic landscape of familial congenital hydrocephalus
ABSTRACT
Objective: Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only four genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, two X-linked (L1CAM and AP1S2) and two autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease.
Methods: Exome sequencing combined, where applicable, with positional mapping.
Results: We identified a likely causal mutation in the majority of these families (21/27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In one family with four affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with five recessive alleles.
Interpretation: Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. This article is protected by copyright. All rights reserved.
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Differential Neuronal Susceptibility and Apoptosis in Congenital ZIKV Infection
Abstract
To characterize the mechanism of ZIKV-associated microcephaly, we perform immunolabeling on brain tissue from a 20-week fetus with intrauterine ZIKV infection. While ZIKV demonstrated a wide range of neuronal and non-neuronal tropism, the infection rate was highest in intermediate progenitor cells and immature neurons. Apoptosis was observed in both infected and uninfected bystander cortical neurons, suggesting a role for paracrine factors in induction of neuronal apoptosis. Our results highlight differential neuronal susceptibility and neuronal apoptosis as potential mechanisms in the development of ZIKV-associated microcephaly, and may provide insights into the design and best timing of future therapy. This article is protected by copyright. All rights reserved.
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Phenobarbital and Midazolam Increase Neonatal Seizure-Associated Neuronal Injury
ABSTRACT
Status Epilepticus is common in neonates and infants, and is associated with neuronal injury and adverse developmental outcomes. GABAergic drugs, the standard treatment for neonatal seizures, can have excitatory effects in the neonatal brain, which may worsen the seizures and their effects. Using a recently developed model of status epilepticus in P7 rat pups that results in widespread neuronal injury, we found that the GABAA agonists phenobarbital and midazolam significantly increased Status Epilepticus-associated neuronal injury in various brain regions. Our results suggest that more research is needed into the possible deleterious effects of GABAergic drugs on neonatal seizures and on excitotoxic neuronal injury in the immature brain. This article is protected by copyright. All rights reserved.
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The effect of chlormadinone acetate on odontogenic differentiation of human dental pulp cells: in vitro study
Abstract
Background
Chlormadinone acetate (CMA) is a derivative of progesterone and is used as an oral contraceptive. The aim of this study was to investigate the effects of CMA on odontogenic differentiation and mineralization of human dental pulp cells (hDPCs) and related signaling pathways.
Methods
Cell viability was determined by the water-soluble tetrazolium (WST)-1 assay. Odontogenic differentiation of hDPCs was evaluated by real-time polymerase chain reaction using odontogenic marker genes, such as alkaline phosphatase (ALP), osteocalcin (OCN), dentin sialophosphoprotein (DSPP), and dentin matrix protein-1 (DMP-1). Mineralization of hDPCs was evaluated by ALP staining and alizarin red staining. The extracellular signal-regulated kinase (ERK) pathway was examined by Western blot analysis.
Results
There was no statistically significant difference in cell viability between the control and CMA-treated groups. Our analysis of odontogenic marker genes indicated that CMA enhanced the expression of those genes. CMA-treated hDPCs showed increased ALP activity and formation of mineralized nodules, compared with control-treated cells. In addition, CMA stimulation resulted in phosphorylation of ERK and resulted in inhibition of downstream molecules by the ERK inhibitor U0126.
Conclusions
These findings suggest that CMA improves odontogenic differentiation and mineralization of hDPCs through the ERK signaling pathway.
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Delayed type of allergic skin reaction to Candida albicans in eosinophilic rhinosinusitis cases
Source:Auris Nasus Larynx
Author(s): Nozomu Wakayama, Shoji Matsune, Kimihiro Okubo
ObjectiveEosinophilic chronic rhinosinusitis (ECRS) is frequently complicated by asthma, and recognized as refractory and persistent rhinosinusitis. However, the detailed pathophysiology of ECRS has not been elucidated yet. In this study, we investigated the association between recurrent ECRS and intradermal testing to multi-antigens including Candida albicans.MethodsThe subjects were 49 cases of bilateral chronic rhinosinusitis including 24 ECRS cases. They underwent endoscopic sinus surgery and submitted to pathological examination. Prior to surgery, peripheral blood eosinophil count, total and antigen-specific IgE levels (11 categories), and intradermal tests (5 categories) were carried out in all patients. These patients were followed-up for longer than 3 months. We compared the results of preoperative and postoperative clinical examination data between ECRS and non-ECRS (NECRS) cases.ResultsPositive reaction of the delayed type of intradermal testing to C. albicans was significantly more often observed in ECRS than NECRS cases. (P<0.01) Additionally, these positive reaction cases exhibited significantly higher recurrence of nasal polyps and symptoms of ECRS (P<0.05).ConclusionThese results suggest the involvement of (Coombs) type IV allergic reaction to C. albicans in the pathophysiology of ECRS.
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List of Reviewers
Source:Auris Nasus Larynx, Volume 44, Issue 3
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SPIO Award 2016
Source:Auris Nasus Larynx, Volume 44, Issue 3
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Malignant external otitis: The shifting treatment paradigm
Source:American Journal of Otolaryngology
Author(s): Daniel A. Carlton, Enrique E. Perez, Eric E. Smouha
ImportanceMalignant external otitis (MEO) is an aggressive infection occurring in immunocompromised hosts. Increasing antimicrobial resistance is making the disease more difficult to treat.ObjectiveDetermine if there has been a shift in the microbiology and outcomes of MEO.DesignA retrospective case series at a tertiary care institution.SettingInpatient and outpatient tertiary care hospital.Participants12 cases of recent MEO were reviewed.Main Outcomes and measuresThe primary outcome was progression of disease. Secondary outcomes were drug resistance and complications of MEO.ResultsOnly 4 patients were cured of MEO. Four patients expired during the study period and at least one of these deaths was a direct result of the MEO. 7 patients developed Cranial nerve palsies, and 3 patients developed abscesses.ConclusionsSelect cases of MEO now require multi-drug and long-term parenteral antibiotic therapy with extended hospital stays.
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Parapharyngeal Space Primary Tumours
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Gianluigi Grilli, Vanessa Suarez, María Gabriela Muñoz, María Costales, José Luis Llorente
Introduction and objectivesThe aim of this study is to present our experience with the diagnostic and therapeutic approaches for parapharyngeal space tumours.Patients and methodThis study is a retrospective review of 90 patients diagnosed with tumours of the parapharyngeal space and treated surgically between 1984 and 2015. Patients whose tumours were not primary but invaded the parapharyngeal space expanding from another region, tumours originating in the deep lobe of the parotid gland and head and neck metastasis were excluded from this study.Results74% percent of the parapharyngeal space neoplasms were benign and 26% were malignant. Pleomorphic adenoma was the most common neoplasm (27%), followed by paragangliomas (25%), miscellaneous malignant tumours (16%), neurogenic tumours (12%), miscellaneous benign tumours (10%), and malignant salivary gland tumours (10%). The transcervical approach was used in 56 cases, cervical-transparotid approach in 15 cases, type A infratemporal fossa approach in 13 cases, transmandibular approach in 4 cases and transoral approach in 2 cases. The most common complications were those deriving from nervous injuries.ConclusionsMost parapharyngeal space tumours can be removed surgically with a low rate of complications and recurrence. The transcervical approach is the most frequently used.
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Assessment of Nasal Obstruction With Rhinomanometry and Subjective Scales and Outcomes of Surgical and Medical Treatment
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Hugo Lara-Sánchez, Candelas Álvarez Nuño, Elisa Gil-Carcedo Sañudo, Agustín Mayo Iscar, Luis Ángel Vallejo Valdezate
IntroductionProspective study of patients with nasal obstruction (NO) in order to measure therapeutic success by anterior active rhinomanometry (AAR), Nasal Obstruction Symptom Evaluation (NOSE) scale and Visual Analogue Scale (VAS) and to establish the correlation between these tests.MethodsPatients with NO, on whom we performed an AAR, NOSE and VAS scales at baseline and after medical treatment (topical nasal steroid) or surgery (septoplasty, turbinoplasty or septoplasty and turbinoplasty). The nasal flow obtained by the AAR and the score of both subjective scales (NOSE and VAS) were compared and analysed.ResultsA total of 102 patients were included in the study. Surgical treatment resulted in statistically significant differences with the AAR and the subjective scales. While in patients with medical treatment there was an increase in the AAR nasal flow but without statistical significance (P=.1363). The correlation between the AAR, the NOSE and VAS scales was measured finding a strong correlation between the NOSE and VAS scales only (r=.83327).ConclusionsThe patients with NO treated surgically have better results when these are evaluated by AAR or with subjective scales. There is no significant correlation between AAR, NOSE and VAS scales, this is considered to be because the AAR and subjective scales are complementary and measure different aspects of NO. The AAR and subjective scales are useful tools to be used together for the follow up of patients with NO.
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Bone Anchored Hearing Aid (BAHA) in children: Experience of a tertiary referral centre in Portugal
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Francisco Rosa, Ana Silva, Cláudia Reis, Miguel Coutinho, Jorge Oliveira, Cecília Almeida e Sousa
ObjectivesThe aim of this study is to describe the experience of a tertiary referral centre in Portugal, of the placement of BAHA in children.MethodsThe authors performed a retrospective analysis of all children for whom hearing rehabilitation with BAHA was indicated at a central hospital, between January 2003 and December 2014.Results53 children were included. The most common indications for placement of BAHA were external and middle ear malformations (n=34, 64%) and chronic otitis media with difficult to control otorrhea (n=9, 17%). The average age for BAHA placement was 10.66±3.44 years. The average audiometric gain was 31.5±7.20dB compared to baseline values, with average hearing threshold with BAHA of 19.6±5.79dB. The most frequent postoperative complications were related to the skin (n=15, 28%). There were no major complications.ConclusionsThis study concludes that BAHA is an effective and safe method of hearing rehabilitation in children.
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Evaluation of Family History of Permanent Hearing Loss in Childhood as a Risk Indicator in Universal Screening
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Mercedes Valido Quintana, Ángeles Oviedo Santos, Silvia Borkoski Barreiro, Alfredo Santana Rodríguez, Ángel Ramos Macías
Introduction and objectiveSixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation.Material and methodThis was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response.ResultsA total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven (0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele.ConclusionsThe percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed.
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Familial Clustering of Nasopharyngeal Carcinoma in Non-Endemic Area. Report of Three Families
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Leydy Mallerling Paredes-Durán, Elvira del Barco-Morillo, María Jesús Baldeón-Conde, Soledad Medina-Valdivieso, María Cecilia Guillen-Sacoto, Juan Jesús Cruz-Hernández
Nasopharyngeal carcinoma is the predominant tumour type arising in the nasopharynx. Its aetiology is multifactorial; racial and geographical distribution, EBV infection and environmental exposure to specific substances are considered risk factors.This condition is endemic in some Asian areas, where a genetic predisposition in its oncogenesis has been established. There is a strong susceptibility between nasopharyngeal carcinoma and HLA, where related specific haplotypes have been found.In areas where the incidence is low, there are few reported cases of families affected. We report 3 cases of families with nasopharyngeal carcinoma among siblings, in the non-Asian population, probably related to EBV infection.
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Ossiculoplasty in chronic otitis media: Surgical results and prognostic factors of surgical success
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Ana Castro Sousa, Vânia Henriques, Jorge Rodrigues, Rui Fonseca
Background and objectivesThe goal of ossiculoplasty is to improve hearing. Successful ossiculoplasty depends on several factors. This retrospective study was carried out to analyze hearing results of ossiculoplasty in ears with chronic otitis media (COM) and evaluate clinical outcomes and factors predictive of hearing improvement.Subjects and methodsWe reviewed the results of 153 patients with COM (with cholesteatoma (COMC) and without cholesteatoma (COMWC)) who underwent ossiculoplasty between January of 2002 to December of 2011. Several potential prognostic factors were evaluated: cholesteatoma present vs absent; type of surgical procedure, state of the middle ear mucosa, state of the ossicular chain, type of prosthesis.ResultsWe analyzed 153 ossiculoplasties: 96 patients presented COMWC and 57 patients presented COMC. The ossiculoplasties were performed using autologous ossicles for the most part. All ossiculoplasties were carried out in one-stage surgery. In 38% of cases ossiculoplasty was combined with mastoidectomy; in the remaining 62% of cases, ossiculoplasty was performed without mastoidectomy. Ossiculoplasty was successfully achieved in 113 patients (74%). The presence of the stapes superstructure and normal mucosa were significant predictive factors of surgical success.ConclusionThe majority of the ossiculoplasties improved hearing status satisfactorily. Multivariate analysis should be performed to investigate prognostic factors of favorable short-term hearing outcomes after ossiculoplasty. Better knowledge of these predictive factors may contribute to the surgeon's judgment and the information given to patients.
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Otorhinolaryngology Manifestations Secondary to Oral Sex
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Claudia Fernández-López, Carmelo Morales-Angulo
IntroductionOver the last few years, oral and pharyngeal signs and symptoms due to oral sex have increased significantly. However, no review articles related to this subject have been found in the medical literature.The objective of our study was to identify otorhinolaryngological manifestations associated with orogenital/oroanal contact, both in adults and children, in the context of consensual sex or sexual abuse.MethodsWe performed a review of the medical literature on otorhinolaryngological pathology associated with oral sex published in the last 20 years in the PubMed database.ResultsOtorhinolaryngological manifestations secondary to oral sex practice in adults can be infectious, tumoral or secondary to trauma. The more common signs and symptoms found in the literature were human papillomavirus infection (above all, condyloma acuminata and papilloma/condyloma), oral or pharyngeal syphilis, gonococcal pharyngitis, herpes simplex virus infection and pharyngitis from Chlamydia trachomatis. The incidence of human papillomavirus-induced oropharyngeal carcinoma has dramatically increased.In children past the neonatal period, the presence of condyloma acuminatus, syphilis, gonorrhoea or palatal ecchymosis (the last one, unless justified by other causes) should make us suspect sexual abuse.ConclusionsSexual habits have changed in the last decades, resulting in the appearance of otorhinolaryngological pathology that was rarely seen previously. For this reason, it is important for primary care physicians to have knowledge about the subject to perform correct diagnosis and posterior treatment. Some sexual abuse cases in children may also be suspected based on the knowledge of the characteristic oropharyngeal manifestations secondary to them.
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Bilateral Metastasis in the Internal Auditory Canal of Malignant Melanoma
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): M. Francisca Ropero Carmona, Joaquín J. Cabrera Rodríguez, Juan Quirós Rivero, Julia L. Muñoz García
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Autosomal Dominant Auditory Neuropathy and Variant DIAPH3 (c.-173C>T)
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Ana Sánchez-Martínez, José I. Benito-Orejas, Juan J. Tellería-Orriols, María J. Alonso-Ramos
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Isolated osteoma of the sphenoid sinus
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Ramanuj Sinha, Neeraj Aggarwal, Mainak Dutta
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Trigeminal Trophic Syndrome: An Unusual Cause of Nasal Ulceration
Source:Acta Otorrinolaringologica (English Edition), Volume 68, Issue 3
Author(s): Carlos Morales-Raya, Esther García-González, Lidia Maroñas-Jiménez
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Prevalence of restless legs syndrome and associated factors in an otherwise healthy population: results from the Danish Blood Donor Study
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Spontaneous Union of an Accidentally Fractured Proximal Segment During Vertical Ramus Osteotomy.
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Traumatic Facial Myopericytoma: A Differential to Consider.
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A Modified Suction-Assisted Technique of Transfer of Diced Cartilage Graft to Carrier Material and Outcome of Direct Injection of Unwrapped Diced Cartilage in Rhinoplasty.
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Effect of Preoperative Molding Helmet in Patients With Sagittal Synostosis.
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Value of Osteoblast-Derived Exosomes in Bone Diseases.
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Review Article: Retropharyngeal Abscess—Mimickers and Masqueraders
Abstract
To discuss a case of suspected retropharyngeal abscess having important clinical and academic significance. This paper discusses an unusual presentation and evolution of a well known condition such as retropharyngeal abscess. Though the diagnosis in this case was initially a retropharyngeal abscess, several unusual findings were evident, which interfered with the optimal management of the patient. A literature review revealed rare causes and lesions mimicking a retropharyngeal abscess, such as retropharyngeal calcific tendinitis and Kawasaki disease, which are neither familiar to otolaryngologists nor other specialists such as orthopedicians. It is possible that this patient was both over treated and undertreated at the same time. Though the diagnosis in this case could not be established with certainty, several important pieces of information came up, especially unusual causes of retropharyngeal abscess and management of the same. Retropharyngeal abscess is a well-known condition with established modes of management. However, certain variations may occur and may pose challenges in diagnosis and management. These variations are little known and need to be highlighted so that optimal management is ensured.
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Invasive Fungal Infection in Acute Myeloid Leukemia Associated with Myeloid Sarcoma of the Sinonasal Cavity: A Rare Case
Abstract
Myeloid sarcoma is a rare malignant extramedullary neoplasm of myeloid precursor cells. The majority of these cases occur in patients with known leukemia or those who eventually develop the disease. It can occur in various sites but sinonasal cavity involvement along with invasive fungal infection is exceedingly rare.
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True Parapharyngeal Space Tumors: Case Series from a Teaching Oncology Center
Abstract
The Parapharyngeal Space (PPS) tumors are rare tumors accounting for 0.5% of the tumors in head and neck region. A retrospective study conducted at Department of Surgical oncology, Vydehi institute of Medical Sciences & Research center, Bengaluru, between 2010 and 2015 identified nine cases treated for PPS tumors. Patients are diagnosed on the basis of clinical examination fine needle aspiration cytology and imaging and considered for excision by one of the varied surgical approaches {transoral(1), transcervical(4), transparotid(0), transcervical-transparotid(1), transmandibular(3) or intratemporal(0) approach}. The choice of approach is defined by the size of the tumor, suspicion of malignancy and the position of the tumor with regard to the superior extent and proximity to the skull base as well as its relation with neurovascular bundle.
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Zygomaticomaxillary complex fractures: diagnosis and treatment.
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