Κυριακή 1 Νοεμβρίου 2020

Visible Vessels of Vocal Folds: Can they have a Diagnostic Role?

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Visible Vessels of Vocal Folds: Can they have a Diagnostic Role?

Curr Med Imaging Rev. 2019;15(8):785-795

Authors: Turkmen HI, Karsligil ME, Kocak I

Abstract
BACKGROUND: Challenges in visual identification of laryngeal disorders lead researchers to investigate new opportunities to help clinical examination. This paper presents an efficient and simple method which extracts and assesses blood vessels on vocal fold tissue in order to serve medical diagnosis.
METHODS: The proposed vessel segmentation approach has been designed in order to overcome difficulties raised by design specifications of videolaryngostroboscopy and anatomic structure of vocal fold vasculature. The limited number of medical studies on vocal fold vasculature point out that the direction of blood vessels and amount of vasculature are discriminative features for vocal fold disorders. Therefore, we extracted the features of vessels on the basis of these studies. We represent vessels as vascular vectors and suggest a vector field based measurement that quantifies the orientation pattern of blood vessels towards vocal fold pathologies.
RESULTS: In order to demonstrate the relationship between vessel structure and vocal fold disorders, we performed classification of vocal fold disorders by using only vessel features. A binary tree of Support Vector Machine (SVM) has been exploited for classification. Average recall of proposed vessel extraction method was calculated as 0.82 while healthy, sulcus vocalis, laryngitis classification accuracy of 0.75 was achieved.
CONCLUSION: Obtained success rates showed the efficiency of vocal fold vessels in serving as an indicator of laryngeal diseases.

PMID: 32008546 [PubMed - indexed for MEDLINE]

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Laryngeal oncocytic cystadenoma mimicking a combined laryngomucocele.

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Laryngeal oncocytic cystadenoma mimicking a combined laryngomucocele.

BMJ Case Rep. 2020 Oct 29;13(10):

Authors: Salvador P, Moreira da Silva F, Fonseca R

Abstract
Laryngeal oncocytic cystadenomas are rare benign tumours lined by oncocytic epithelium and arising from the salivary glands; they usually present as a supraglottic mass. Oncocytic changes are very uncommon in the larynx and occur mainly in ventricles and false vocal cords, where seromucinous glands predominate. The authors present the case of a 62-year-old woman who reported a 6-month history of hoarseness associated with a soft and non-compressible upper left side neck swelling. Transnasal fiberoptic laryngoscopy revealed a left submucosal supraglottic mass involving the false vocal fold and the vallecula, partially obstructing the airway. CT scan showed a homogeneous isodense cystic lesion centred at the left laryngeal ventricle, with extension through the thyrohyoid membrane. The patient was successfully managed by a lateral thyrotomy approach. Histopathological examination of the specimen revealed a papillary oncocytic cystadenoma and excluded malignancy. There was no evi dence of recurrence after 9 months of follow-up.

PMID: 33122233 [PubMed - in process]

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Tubed Supraglottic Laryngeal Closure to Treat Chronic Aspiration After Radiotherapy for Head and Neck Cancer.

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Tubed Supraglottic Laryngeal Closure to Treat Chronic Aspiration After Radiotherapy for Head and Neck Cancer.

Laryngoscope. 2020 Oct 30;:

Authors: Ku PKM, Vlantis AC, Cho RHW, Yeung ZWC, Ho OYM, Hui TSC, Abdullah V, van Hasselt A, Tong MCF

Abstract
OBJECTIVES/HYPOTHESIS: To evaluate the long-term swallowing outcomes after surgical treatment for chronic aspiration in patients treated with radiotherapy for head and neck cancer.
STUDY DESIGN: This was a retrospective study.
METHODS: The data of patients who underwent radiotherapy for head and neck cancer and who subsequently required a laryngectomy or a tubed supraglottic laryngeal closure (TSLC) for recurrent aspiration pneumonia between 2004 and 2017 were retrieved from a tertiary referral hospital dysphagia clinic. The Functional Oral Intake Scale (FOIS) and the Swallowing Performance and Status Scale (SPSS) were used to assess swallowing function.
RESULTS: Of the 17 patients who required surgery for chronic aspiration secondary to radiotherapy for head and neck cancer, two underwent a laryngectomy and 15 a TSLC. During a mean follow-up of 77 months, the FOIS and SPSS scores significantly improved at 12, 24, and 36 months after laryngectomy and TSLC relative to the baseline (P < .05). Both patients who underwent laryngectomy and 11 of the 15 (73.3%) who underwent a TSLC resumed oral feeding. Both laryngectomy patients had episodes of recurrent aspiration pneumonia after surgery due to leakage through the tracheoesophageal puncture or prosthesis, whereas none of the TSLC patients had these episodes.
CONCLUSION: A tubed supraglottic laryngeal closure, which is a reversible procedure that preserves the larynx and allows for natural phonation, should be considered an alternative to laryngectomy for the control of chronic aspiration.
LEVEL OF EVIDENCE: 4. Laryngoscope, 2020.

PMID: 33125167 [PubMed - as supplied by publisher]

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Abnormal Laryngeal Electromyography Findings in Asymptomatic Adults Across the Age Spectrum.

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Abnormal Laryngeal Electromyography Findings in Asymptomatic Adults Across the Age Spectrum.

Laryngoscope. 2020 Oct 30;:

Authors: Leclerc AA, Munin MC, Smith LJ, Rosen CA

Abstract
OBJECTIVES/HYPOTHESIS: Laryngeal electromyography (LEMG) is a diagnostic tool for patients with suspected neurogenic abnormalities of the larynx. LEMG is often used with the assumption that any abnormality is symptom-/disease-related. We sought to determine the prevalence of abnormal LEMG findings in a group of healthy asymptomatic adults across a large age spectrum.
STUDY DESIGN: Open, prospective study, gender-match and age balanced by decade.
METHODS: Forty-six healthy participants (age 20-78) underwent LEMG, including 178 muscles. Participants had no history of voice problems, normal VHI-10, and normal flexible laryngoscopy. Qualitative and quantitative LEMG (bilateral) were performed involving the thyroarytenoid-lateral cricoarytenoid muscle complex (TA-LCA) and cricothyroid (CT) muscles. LEMG parameters included evaluation for fibrillation potentials, sharp waves, reduced recruitment, polyphasic potentials, electrical synkinesis, and measurement of turns per second.
RESULTS: Of participants, 4% had at least one abnormal qualitative finding (slightly reduced recruitment or two to three discrete polyphasic potentials). There were no findings of fibrillation potentials or sharp waves. There were no abnormal qualitative findings in the CT muscles tested. Of participants, 16% had at least one abnormal synkinesis finding. LEMG qualitative abnormalities and quantitative abnormalities do not appear to correlate with gender or age.
CONCLUSION: Abnormal qualitative and quantitative LEMG findings were uncommon and minor in severity in our group of asymptomatic healthy adults. The likelihood of abnormal LEMG results in asymptomatic adults was 2.2% for qualitative findings, 9.3% for synkinesis, and 5.4% for turns/s.
LEVEL OF EVIDENCE: 3. Laryngoscope, 2020.

PMID: 33125187 [PubMed - as supplied by publisher]

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Impact of adenotonsillectomy on the evolution of inflammatory markers.

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Impact of adenotonsillectomy on the evolution of inflammatory markers.

Clin Otolaryngol. 2019 11;44(6):983-988

Authors: Marcano-Acuña ME, Carrasco-Llatas M, Tortajada-Girbés M, Dalmau-Galofre J, Codoñer-Franch P

Abstract
BACKGROUND: Tonsils are first-line host defence organs against pathogenic agents and participate in local and systemic immunity. Persistent increases in systemic inflammatory responses may contribute to associated morbidity. The aim of this study was to verify the short- and long-term impact of adenotonsillectomy on the evolution of inflammatory markers in 3- to 9-year-old children.
METHODS: A prospective and longitudinal study was conducted over 1 year in 29 children who underwent tonsillectomy due to either chronic tonsillitis or adenotonsillar hypertrophy. Measurements of high-sensitivity C-reactive protein (hs-CRP) levels were taken. Levels of Th1-type cytokines [interleukin-1, interferon-γ, and tumor necrosis factor-α (TNF-α)] and anti-inflammatory Th2-type cytokines [interleukin-4, -5, -6, -10 and -13] were measured. Levels of transforming growth factor-beta (TGF-β) and intercellular adhesion molecule-1 (ICAM-1) were also determined. The results were compared to those of 29 control children.
RESULTS: At baseline, children with surgery indications presented with higher levels of hs-CRP, interleukin-1 and -10, interferon-γ, TNF-α and ICAM-1, whereas values of interleukin-4 were significantly lower than in control children. Children with severe tonsillar obstruction had higher values of interleukin-1, -4, and -5 and lower values of interleukin-10 compared with children with recurrent tonsillitis. One year after surgery, the levels except IL-4 did not show a significant difference from those obtained in the control group. The levels of hs-CRP and TNF-α decreased significantly in the first month.
CONCLUSION: Children with chronic tonsillitis and/or adenotonsillar hypertrophy have significantly elevated levels of proinflammatory cytokines. Adenotonsillectomy restores the normal values of these parameters 1 year after surgery.

PMID: 31461789 [PubMed - indexed for MEDLINE]

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Vici syndrome .... Agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing

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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Medicine (Baltimore). 2020 Oct 23;99(43):e22302

Authors: Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A

Abstract
RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for regulating autophagy activity.
PATIENT CONCERN: We report a 6-month-old Saudi female patient who was the second-born baby of first cousins. She was born by normal spontaneous vertex vaginal delivery. Parents noticed that she had global developmental delay and recurrent hospital admissions due to chest infections.
DIAGNOSIS: Brain magnetic resonance imaging showed brain atrophy with corpus callosum agenesis. Ophthalmology examination revealed bilateral congenital cataract. Molecular genetic testing identified the pathogenic homozygous variant c.4751T>A p. (Leu1584*) on exon 27 of the EPG5 gene and confirmed the diagnosis of Vici syndrome.
INTERVENTIONS: Supportive multidisciplinary care plan was initiated to this untreatable syndrome.
OUTCOMES: The patient died at the age of 6 months due to sepsis with uncompensated septic shock.
LESSONS: VICIS is a rare untreatable disorder with worldwide distribution. High index of suspicion is needed to diagnose it and family genetic counselling is crucial.

PMID: 33120733 [PubMed - in process]

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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

gnorimies20.15 shared this article with you from Inoreader
Related Articles

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Medicine (Baltimore). 2020 Oct 23;99(43):e22302

Authors: Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A

Abstract
RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for regulating autophagy activity.
PATIENT CONCERN: We report a 6-month-old Saudi female patient who was the second-born baby of first cousins. She was born by normal spontaneous vertex vaginal delivery. Parents noticed that she had global developmental delay and recurrent hospital admissions due to chest infections.
DIAGNOSIS: Brain magnetic resonance imaging showed brain atrophy with corpus callosum agenesis. Ophthalmology examination revealed bilateral congenital cataract. Molecular genetic testing identified the pathogenic homozygous variant c.4751T>A p. (Leu1584*) on exon 27 of the EPG5 gene and confirmed the diagnosis of Vici syndrome.
INTERVENTIONS: Supportive multidisciplinary care plan was initiated to this untreatable syndrome.
OUTCOMES: The patient died at the age of 6 months due to sepsis with uncompensated septic shock.
LESSONS: VICIS is a rare untreatable disorder with worldwide distribution. High index of suspicion is needed to diagnose it and family genetic counselling is crucial.

PMID: 33120733 [PubMed - in process]

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