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Τρίτη 21 Σεπτεμβρίου 2021

Primary hyperparathyroidism: A disease of diverse genetic, symptomatic, and biochemical phenotypes

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Abstract

Genetic, symptomatic, and biochemical heterogeneity of patients with primary hyperparathyroidism (PHPT) has become apparent in recent years. An in-depth, evidence-based review of the phenotypes of PHPT was conducted. This review was intended to provide the resulting information to surgeons who operate on patients with hyperparathyroidism. This review revealed that the once relatively clear distinction between familial and sporadic PHPT has become more challenging by the finding of various germline mutations in patients with seemingly sporadic PHPT. On the one hand, the genetic and clinical characteristics of some syndromes in which PHPT is an important component are now better understood. On the other hand, knowledge is emerging about novel syndromes, such as the rare multiple endocrine neoplasia type IV (MEN4), in which PHPT occurs frequently. It also revealed that, currently, the classical array of symptoms of PHPT is seen rarely upon initial presentation for evaluation. More co mmon are nonspecific, nonclassical symptoms and signs of PHPT. In areas of the world where serum calcium levels are checked routinely, most patients today are "asymptomatic" and they are diagnosed after an incidental finding of hypercalcemia; however, some of them have subclinical involvement of bones and kidneys, which is demonstrated on radiographs, ultrasound, and modern imaging techniques. Last, the review points out that there are three distinct biochemical phenotypes of PHPT. The classical phenotype in which calcium and parathyroid hormone levels are both elevated, and other disease presentations in which the serum levels of calcium or intact parathyroid hormone are normal. Today several, distinct phenotypes of the disease can be identified, and they have implications in the diagnostic evaluation and treatment of patients, as well as possible screening of relatives.

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DICER activates autophagy and promotes cisplatin resistance in non-small cell lung cancer by binding with let-7i-5p

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Via histochem

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Acta Histochem. 2021 Sep 17;123(7):151788. doi: 10.1016/j.acthis.2021.151788. Online ahead of print.

ABSTRACT

OBJECTIVE: Drug resistance is the main obstacle in the treatment of non-small cell lung cancer (NSCLC). This study aimed to explore the mechanism of DICER in NSCLC resistance and its downstream signaling pathways.

METHODS: The A549 cisplatin (DDP)-resistant strain A549/DDP was established. A549/DDP cells were transfected with DICER- and let-7i-5p-related vector s, and treated with autophagy activator rapamycin. The cell viability and apoptosis were tested by CCK-8 assay and flow cytometry, respectively. The formation of autophagosomes was observed with a transmission electron microscopy. RT-qPCR and Western blot assay were conducted to detect expression levels of DICER, let-7i-5p, autophagy-related proteins, and the PI3K/AKT/mTOR pathway-related proteins. The dual luciferase reporter gene assay was implemented to confirm the targeted binding of DICER and let-7i-5p.

RESULTS: DICER was highly expressed in DDP-resistant NSCLC tissues and cells, and DICER could target and negatively regulate the expression of let-7i-5p. DDP treatment could inhibit the viability and promote cell apoptosis of A549/DDP cells. Downregulation of DICER in A549/DDP cells exhibited a decrease of cell viability, a decreased ratio of LC3-II/LC3-I and autophagosomes, together with an elevation of cell apoptosis rate and the phosphorylation levels of PI3K/AKT/mTOR. Treatment of rapamycin and let-7i-5p inhibitor reversed the effects of downregulated DICER in cell viability, ratio of LC3-II/LC3-I, autophagosomes, cell apoptosis rate and the phosphorylation levels of PI3K/AKT/mTOR in A549/DDP cells.

CONCLUSION: Our research suggests that DICER promotes autophagy and DDP resistance in NSCLC through downregulating let-7i-5p, and inhibits the activation of PI3K/AKT/mTOR pathway.

PMID:34543777 | DOI:10.1016/j.acthis.2021.151788

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Comparison of Olfactory Cleft Width and Volumes in Patients with COVID-19 Anosmia and COVID-19 Cases Without Anosmia

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Introduction: The aim of this study was to assess the relationship between olfactory cleft width/volume and COVID-19-related anosmia. Methods: This study consisted of PCR-proven COVID-19 patients. Cases with COVID-19-related anosmia constituted Group 1 and cases without any olfactory dysfunction (OD) throughout COVID-19 infection or after recovery constituted Group 2. A total of 50 patients were included in the study, comprising 24 cases in Group 1 and 26 cases in Group 2. Group 1 patients underwent a 4-item-odor identification test during active symptoms and a Sniffin' Sticks test after reconversion of PCR results to negative. All patients in Group 2 also underwent the Sniffin' Stick test to document normosmia. All cases had paranasal sinus CT performed. Olfactory cleft widths and olfactory volumes were measured. The differences in width and volume between groups and the correlation with odor test scores (threshold-discrimination-identification [TDI]) were calculated. In addition, regression analyzes analysis was performed for cleft widths, volumes, and TDI scores according to age. Results: Olfactory cleft widths and olfactory volumes were significantly higher in Group 1 than those in Group 2 (p = 0.001; p #x3c; 0.01). There was a significant negative correlation between total TDI scores and olfactory cleft widths and total olfactory volumes (r = −0.665; r = −0.731, respectively). Patients younger than 40 years of age had significantly higher right olfactory cl eft width, left olfactory cleft width, and olfactory cleft volume than those in patients older than 40 years of age (p = 0.004, p = 0.005, p = 0.003; p #x3c; 0,01, respectively). However, patients younger than 40 years of age had a significantly lower total TDI score and in all other values individually (t-d-i) than those in patients older than 40 years of age (p = 0.004; p #x3c; 0.01). Conclusion: Patients with COVID-19-related OD had larger olfactory cleft width and volumes than those without OD in this study. Total TDI score was found to be inversely correlated with cleft width and volume.
ORL
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Impact of Noise on Sound Processing at Lower Auditory System: An Electrophysiological Study

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Abstract

The importance of signal-to-noise ratio (SNR) is well documented in behavioral speech perception experiments and psychophysical measurements. Studies on ABR related to the encoding of signals in ipsilateral noise are very limited. The present study aimed to systematically investigate the effect of various SNRs on the latency and amplitude of ABR to a range of stimuli & to compare the latency and amplitude of ABR recorded in various ipsilateral SNRs in children and adults. We recorded auditory brain stem responses (ABR) in children and young adults for clicks, a speech token /da/ of 40 ms duration, and for a 1000 Hz tone burst in the presence of a broad band noise and quiet. There were four SNR conditions (+ 10 dB SNR, 0 dB SNR and -10 dB SNR), and the level of noise was varied, while the stimulus level was fixed at 60 dB HL. The results showed that SNR affects the latency and amplitude of the wave V peak differentially for the different stimuli. A difference in the performance of children and adults was also observed. SNR measurements using ABR provide an objective index of brainstem ability to process sound in the presence of background noise. This measure is important and can be used to assess the sound-in-noise processing ability in the difficult-to-test population such as infants and children where measures of signal-to-noise tests cannot be administered.

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A Case of Invasive Aspergillosis Involing Orbital Apex and Optic Nerve Sheath

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Abstract

Spread of fungal infection neurally is a rare phenomenon. Hereby we report a case of fifty year old diabetic female with primary optic atrophy and aspergillosis of orbital apex and optic nerve sheath. In this case fungal debris was found in sphenoid sinus, orbital apex and optic nerve sheath. This patient had mild proptosis on left eye. This is a rare condition of fungal growth in the optic nerve sheath. Radiological investigation revealed bony erosion in posterior wall of sphenoid sinus. Functional endoscopic sinus surgery was done and sample sent for KOH mount, fungal culture and histopathological examination revealing aspergillus fumigatus and post op follow up with antifungal therapy.

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Endoscopic Cartilage Boomerang Ossiculoplasty- as Total Ossicular Replacement Using Endoscope Holder

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Abstract

We report the technique of two handed transcanal endoscopic ossiculoplasty using tragal cartilage in the form of boomerang as an option for total ossicular replacement in absence of stapes superstructure. In this technique, the vertical strut is fashioned as a boomerang and measures 10 mm in length and 2 mm in breadth. A partial thickness cut is made on the vertical strut at 4–4.5 mm along the length so that it can be bent into boomerang, one end of which is placed on the stapes footplate and the other part rests in the hypotympanum. This stable assembly is placed on the footplate of the stapes (when all ossicles are absent). Tympanic membrane reconstruction is performed with or without attic reconstruction, using sliced tragal cartilage of 0.5 mm thickness. Boomerang ossiculoplasty is good option in cases of absent stapes providing a stable assembly. The use of endoscope holder during ear surgery gives additional advantages of panoramic vie w of middle ear spaces due to use of endoscope along with benefits of two handed technique (similar to microscopic ear surgery).

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The Effect of Somatosensorial System on Vestibular System

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Abstract

The aim of this study was to investigate the effects of the somatosensory system on the vestibular system and the interconnected ways they work together to maintain balance. The study was conducted on 54 individuals (27 females and 27 males), aged between 18–25 years. vHIT as well as cVEMP tests were used to evaluate the participants. Tests were carried out while sitting, standing on firm surface and standing on foam respectively. According to the posterior vHIT results, there was a significant difference between VOR gains obtained while sitting and standing on firm surface in right side as well as on the left side (p < 0,01). Moreover, when VOR gains in standing on firm and standing on foam results were compared to each other, statistical significance was found right and left posterior canals (p < 0,05). Concerning the results obtained from VEMP, a statistically significant difference was seen in the comparison of P1-N1 amp litudes of the right side on firm surface and standing on foam (p < 0,01). When the inputs from somatosensorial system are disturbed, the parts of the vestibular system that are primarily affected are the posterior SSC, saccule and inferior vestibular nerve. This can be interpreted as the inferior vestibular nerve being more affected than the superior vestibular nerve when posture is disturbed due to somatosensory cues being unavailable or unstable.

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Sleep Endoscopy Patterns in Six Adults With Trisomy 21 and Obstructive Sleep Apnea

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Obstructive sleep apnea (OSA) is prevalent amongst individuals with Trisomy 21 (T21). This case series describes the results of drug-induced sleep endoscopy of six adult patients with OSA and T21 and compares the patterns of collapse to those observed in adults without T21. Predominantly hypopharyngeal airway collapse was found in four of the six (66.7%) subjects with T21, a much higher proportion than in the general population. This finding may implicate anatomic differences underlying the increased prevalence of OSA in individuals with T21 and may have treatment implications. Laryngoscope, 2021

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Safety of Ibuprofen in Children With G6PD Deficiency: A Systematic Review

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Introduction

Ibuprofen is included on websites and frequently referenced lists as medium risk for inducing hemolysis in children with glucose-6-phosphate dehydrogenase (G6PD) deficiency. This presents a challenge for otolaryngologists who perform tonsillectomy and other surgeries in children, as ibuprofen serves as an important alternative to opioids for perioperative pain control. We systematically review published literature and national medication databases to evaluate the risk of hemolytic anemia and related complications when ibuprofen is used in children with G6PD deficiency.

Methods

Systematic literature review using preferred reporting items for systematic reviews and meta-analyses methodology. National drug adverse reaction database inquiry.

Results

Our search yielded 774 results for review consideration. Of these, three studies were included in our final analysis (two retrospective case-series, and one nonrandomized prospective study). The prospective study showed no evidence of hemolysis from perioperative exposure to ibuprofen or other non-steroidal anti-inflammatory drugs (NSAIDs) in children with G6PD deficiency at high risk. Two population studies in the Middle East suggested extremely low incidence of ibuprofen-related hemolysis (approximate 1/100,000 affected children per year). United States Food and Drug Administration (FDA), European Medicine Agency, and Health Canada adverse drug reaction databases reveled reported ibuprofen-related hematologic adverse reactions of approximate 1/100 million affected children per year.

Conclusions

There is scant, low-quality evidence of hemolytic anemia caused by ibuprofen in children with G6PD deficiency. If an association does exist, it is extremely rare. Drug-induced hemolytic anemias are recognizable and reversible following discontinuation of the inciting medication. Given these low risks, ibuprofen should be considered an appropriate choice in the management of perioperative pain in children with G6PD deficiency.

Level of Evidence

N/A Laryngoscope, 2021

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Validation of a French version of the Sunnybrook facial grading system

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Eur Ann Otorhinolaryngol Head Neck Dis. 2021 Sep 17:S1879-7296(21)00181-2. doi: 10.1016/j.anorl.2021.08.003. Online ahead of print.

ABSTRACT

BACKGROUND: The aim of this study was to translate the Sunnybrook Facial Grading System and its specific criteria into French and validate its use by French-speaking physicians for facial palsy evaluation.

MATERIAL AND METHODS: The original English version of the Sunnybrook Facial Grading System and its specific criteria was translated into French according to international standards. Twenty videos of patients with a wide range of facial palsy in terms of duration and severity were independently rated, twice each, by 6 physicians with varied experience in facial palsy care. Internal consistency and intra- and inter-rater reliability were analyzed.

RESULTS: The French version of Sunnybrook Facial Grading System and its specific criteria both showed good internal consistency, with Cronbach alph a of 0.84 and 0.86 respectively. Inter-rater reliability was excellent in both sessions for the composite score, the score of symmetry at rest and during voluntary movement and synkinesis: intraclass correlation coefficient (ICC) between 0.77 and 0.98. Intra-rater reproducibility on the composite score and subscores was also excellent and comparable for expert, experienced and novice physicians, with an average ICC of 0.95.

CONCLUSION: The French version of the Sunnybrook Facial Grading System and its specific criteria is reliable, reproducible and easy to use by French-speaking teams for facial palsy evaluation.

PMID:34544661 | DOI:10.1016/j.anorl.2021.08.003

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Aberrant course of the precavernous-cavernous junction of the internal carotid artery

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Surg Radiol Anat. 2021 Sep 21. doi: 10.1007/s00276-021-02839-x. Online ahead of print.

ABSTRACT

We present an extremely rare case of an aberrant course of the precavernous-cavernous junction of the internal carotid artery (ICA), which was observed by magnetic resonance (MR) angiography. The patient was a 67-year-old woman with no symptoms related to the anomalous ICA. The anomalous segment of the ICA was stenotic and formed a loop postero-supero-laterally. We found no simila r cases in the relevant English-language literature. Segmental agenesis of the ICA with collateral formation, probably via the proximal segment of the primitive trigeminal artery, may be associated with the development of this variation.

PMID:34546381 | DOI:10.1007/s00276-021-02839-x

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Sliced vs crushed cartilage for camouflage: long-term graft survival and histological outcomes

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Eur Arch Otorhinolaryngol. 2021 Sep 21. doi: 10.1007/s00405-021-07079-8. Online ahead of print.

ABSTRACT

PURPOSE: In this study, we proposed a "sliced-partial thickness cartilage graft" for nasal contour restoration purposes and compared the long-term graft survival and histological changes of sliced, crushed, and intact cartilage grafts.

METHODS: Nasal septal and auricular cartilage grafts were harvested from 8 rabbits. Sliced, crushed, or intact cartilage grafts were measured in thickness with a micrometer and re-implanted. 4 months later, specimens were histologically evaluated and thickness were measured.

RESULTS: Both nasal septal and auricular crushed cartilage lost significantly more chondrocytes than sliced samples together with fibrosis, multiple fracture lines, and even ossification. Sliced and intact cartilages were histologically similar except sliced cartilage had some minor changes limited to its cut surface. Sliced cartilages retained their thickness, histology, and structural properties in the long term similar to intact cartilages whereas -contrary to expectations- crushed specimens had significantly higher thickness measurements at the end of 4 months.

CONCLUSION: Sliced cartilage grafts prepared with an atraumatic cartilage slicer are an ideal camouflaging material with its uniform thickness, and malleability. Crushed cartilages seemingly getting thicker without histological findings could be explained by lower than actual initial measurements due to its structural weakness and getting squeezed when the standard pressure of the micrometer was applied.

PMID:34546396 | DOI:10.1007/s00405-021-07079-8

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