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Κυριακή 6 Μαρτίου 2022

Recurrent Metastatic Parotid Acinic Cell Carcinoma Responsive to Pembrolizumab

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In Vivo. 2022 Mar-Apr;36(2):1047-1051. doi: 10.21873/invivo.12801.

ABSTRACT

BACKGROUND: No clear chemotherapy regimen for recurrent or metastatic parotid cancer exists. We describe our experience with pembrolizumab to treat recurrent or metastatic parotid cancer.

CASE REPORT: A 73-year-old woman with swelling in the lower part of the right ear for 10 years before surgery was diagnosed with right parotid cancer, underwent total right parotidectomy, and reported recurrence. She requested treatment due to diminished quality of life caused by neurological symptoms. Tissue was collected from the recurrent lesion and its combined positive score was >20; pembrolizumab was started 9 years postoperatively.

RESULTS: To date, the patient has received 14 cycles of pembrolizumab. Evaluation by computed tomography showed a partial response to treatment. The only immune-related adverse event was grade 1 pneumonia in both lungs.

C ONCLUSION: Significant response to pembrolizumab in recurrent or metastatic parotid cancer is rarely reported, making this a remarkable case. We plan to continue pembrolizumab administration.

PMID:35241570 | DOI:10.21873/invivo.12801

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Sequential Loss of Mandibular Permanent Incisors in Noonan Syndrome

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In Vivo. 2022 Mar-Apr;36(2):1021-1029. doi: 10.21873/invivo.12797.

ABSTRACT

BACKGROUND: Noonan syndrome (NS) is a multigenic disorder with a highly variable phenotype. Cardiac disorders and a predisposition to neoplasm often require early medical attention. Central giant central lesions (CGCLs) of the jaws are part of the phenotype.

CASE REPORT: In a patient with genetically confirmed NS and multiple teeth loss presumably caused by CGCL, careful review of the medical history and radiographic findings made it probable that the cause of tooth loss was cervical root resorption (CRR) of the teeth following long-term orthodontic therapy.

CONCLUSION: CRR is a rare dental disease of unknown origin. However, association with prior orthodontic therapy is well documented. In NS, mandibular lesions can occur which, at first glance, might lead the examiner to assume that it is a CGCL, but on closer analysis, obviously are of non-tumoro us origin and should be assessed as coincidental. The report adds relevant information to orthodontic treatment of NS patients.

PMID:35241566 | DOI:10.21873/invivo.12797

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PKM2 Is Overexpressed in Glioma Tissues, and Its Inhibition Highly Increases Late Apoptosis in U87MG Cells With Low-density Specificity

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In Vivo. 2022 Mar-Apr;36(2):694-703. doi: 10.21873/invivo.12755.

ABSTRACT

BACKGROUND/AIM: Pyruvate kinase M2 (PKM2) functions as an important rate-limiting enzyme in aerobic glycolysis and is involved in tumor initiation and progression. However, there are few studies on the correlation between PKM2 expression and its role in glioma.

MATERIALS AND METHODS: PKM2 expression was immunohistochemically examined in human brain tumor samples. Furthermore, we studied the effects of two PKM2 inhibitors (shikonin and compound 3K) on the U87MG glioma cell line.

RESULTS: PKM2 was overexpressed in most glioma tissues when compared to controls. Interestingly, glioma-adjacent tissues from showed slight PKM2 overexpression. This suggests that PKM2 overexpression maybe an important trigger factor for glioma tumorigenesis. We found that the PKM2 inhibitor shikonin was effective against U87MG cells at a relatively low dose and was largely dep endent on low cellular density compared to the effects of the anticancer drug vincristine. Shikonin highly increased late-apoptosis of U87MG cells. We also demonstrated that autophagy was involved in the increase in late-apoptosis levels caused by shikonin. Although vincristine treatment led to a high level of G2-phase arrest in U87MG cells, shikonin did not increase G2 arrest. Co-treatment with two PKM2 inhibitors, shikonin and compound 3K, increased the inhibitory effects.

CONCLUSION: Combination therapy with PKM2 inhibitors together might be more effective than combination therapy with anticancer drugs. Our findings encourage the application of PKM2-targeting in gliomas, and lay the foundation for the development of PKM2 inhibitors as promising antitumor agents for glioma.

PMID:35241524 | DOI:10.21873/invivo.12755

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Endonasal Acoustic Doppler Sonography in Predicting the Survival of Nasoseptal Flap Following Previous Irradiation

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Objective

Blood supply to the nasoseptal flap may be compromised in patients who had previous irradiation to the head and neck region, hence, affecting its viability. Here, we evaluate the role of an endonasal acoustic Doppler sonography in predicting the survival of the nasoseptal flap in this group of patients.

Study Design

Retrospective cohort.

Methods

Retrospective review of patients with previous irradiation to the head and neck region who had undergone endoscopic endonasal surgeries requiring nasoseptal flap as reconstruction. Survival rates of nasoseptal flap were compared between groups where endonasal Doppler was used.

Results

A total of 28 patients were identified with previous irradiation to the head and neck region who had undergone endoscopic endonasal surgeries requiring nasoseptal flap as reconstruction. The overall survival rate of nasoseptal flap is 67.8% (19 out of 28). Endonasal acoustic Doppler was used in 17 of these patients, of which 13 patients had a positive signal. The flap survival rate in the Doppler-positive group compared to the non-Doppler group was significantly better at 100% vs 45.4% (P = .003). Among those where the endonasal Doppler was used, the flap survival rate with a negative doppler signal was significantly worse at 25%, compared with 100% flap survival in those with positive doppler signal (P = .006). The positive predictive value of a positive endonasal Doppler signal with flap survival is 100%.

Conclusion

The use of endonasal acoustic Doppler may be useful in predicting the viability of nasoseptal flap in postirradiated patients who need a local mucosal flap coverage.

Level of Evidence

Level 3 Laryngoscope, 2022

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Smoothed Cepstral Peak Analysis

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Childhood and adolescence are essential stages in the development of voice and speech quality; therefore, it is essential to understand the vocal changes that occur during this period. Frequency-based measurement methods like cepstral measurements stand out among the methods described, which are able to identify fo and estimate the periodicity and noise in the acoustic wave without establishing individual cycles of the sound wave.
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Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease

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ABSTRACT

An 82-year-old female patient presented with a recent onset of painful skin lesions in unilateral distribution on the abdominal area following the lines of Blaschko; the initial diagnosis of Varicella-zoster infection was made. However, because the individual lesions appeared as hyperkeratotic papules and were unresponsive to antiviral therapy, a skin biopsy was performed, which revealed hyperkeratosis, suprabasal acantholysis and dyskeratosis with corps ronds and grains, consistent with acantholytic dyskeratotic acanthoma. Since this entity has been associated with Darier disease, whole transcriptome sequencing by RNA-Seq was performed on RNA isolated from a lesion as well as from adjacent normal appearing skin, and a recently developed bioinformatics pipeline that can identify both genomic sequence variants and the presence of any of over 900 viruses was applied. Two pathogenic missense mutations in the ATP2A2 gene were identified in the lesional but not in normal appeari ng skin, and no evidence of Varicella-Zoster infection was obtained. These findings confirm the diagnosis of segmental Darier disease due to postzygotic mutations in the ATP2A2 gene, and attest to the power of a novel single-step application of RNA-Seq in providing correct diagnosis in this rare genodermatosis.

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A Novel 3-Step Tuning Fork Hearing Test; Preliminary Report on Its Clinical Utility

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Abstract

It is pertinent to have a Tuning Fork Hearing Test that stand-alone can detect severities (Mild, Moderate, Severe and Profound) and the types of hearing losses (Conductive, Sensorineural, and Mixed). A novel 3-Step Tuning Fork Hearing Test (3-STFHT) was attempted for the first time that could detect both the types and the severities of hearing losses. The study was aimed to describe the method of the 3-STFHT and evaluate its clinical utility and reliability. Research Design: Hospital-based observational study of a diagnostic tool. Settings: Otorhinolaryngology Department of a tertiary care medical college hospital. Subjects: 108 adult patients (216 ears) who required hearing evaluation. Main Outcome measures: Sensitivity and specificity of novel 3-STFHT were assessed by comparing its results with the reports of pure tone audiometry in detecting the type and severity of hearing loss. The new 3-STFHT was found very effective (100% sensitivity and specificity) in de tecting conductive and profound sensorineural hearing losses. The sensitivity in detecting sensorineural hearing loss was found 97%-100%. The sensitivity was observed relatively low (92%) at detecting mixed hearing loss. The overall sensitivity and specificity of the 3-STFHT in detecting the types of hearing losses was found 97% and 86% respectively. The novel 3-STFHT, which is simple and convenient, was found very effective in detecting the types and severity of hearing losses. The 3-STFHT can be an important tool in otorhinolaryngology practice and in primary care setting for detecting and screening the types and severities of hearing losses.

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